MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Annals of Clinical and Laboratory Science' source. Tue, 07 Feb 2012 06:39:40 +0100 http://www.medworm.com/index.php?rid=5535044&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166498%26dopt%3DAbstract Authors: Avory JS PMID: 22166498 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535044 Fri, 23 Dec 2011 21:54:02 +0100 5535044 http://www.medworm.com/index.php?rid=5535043&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166499%26dopt%3DAbstract Authors: McCully KS Abstract Hyperhomocysteinemia was first associated with degenerative disease by observation of accelerated arteriosclerosis in children with inherited disorders of cystathionine synthase, methionine synthase, and methylene tetrohydrofolate reductase. The metabolic blockade of sulfate synthesis from homocysteine thiolactone in malignant cells is ascribed to a deficiency of a chemopreventive derivative of homocysteine thiolactone that occurs in normal cells. Its chemical structure was elucidated by the organic synthesis of thioretinamide from retinoic acid and homocysteine thiolactone. Oxidation of the sulfur atom of homocysteine is inhibited in scorbutic guinea pigs, demonstrating ascorbate function in sulfate synthesis from homocysteine. Studies of homocysteine ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535043 Fri, 23 Dec 2011 21:54:02 +0100 5535043 http://www.medworm.com/index.php?rid=5535042&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166500%26dopt%3DAbstract Authors: Alfakir M, Moammar MQ, Ali MI, Alhatem E, Curran RD, Saoud RM, Chandran C, Khan MA, Debari VA Abstract Little is known about the effect of hemodialysis (HD) on gas exchange in subjects with chronic obstructive pulmonary disease (COPD). The purpose of this study was to examine blood gases and pH in COPD patients undergoing HD with bicarbonate dialysate. We studied thirteen subjects with COPD and thirteen controls (CON). All were dialyzed for 4 hrs against a bicarbonate HD solution. Blood gases, pH and HCO(3) (-) were initially analyzed (t(0)) and, during HD, at 30 min (t(0.5)), 1 hr (t(1)) and 4 hrs (t(4)). At t(0), a statistically significant difference was observed for PO(2) (CON: 84.7±3.60, COPD: 72.19±4.92; p<0.001). For the first hr, PO(2) decreased, and at t(1), ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535042 Fri, 23 Dec 2011 21:54:02 +0100 5535042 http://www.medworm.com/index.php?rid=5535041&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166501%26dopt%3DAbstract Authors: Hu P, Lee CW, Xu JP, Simien C, Fan CL, Tam M, Ramagli L, Brown BW, Lynch P, Frazier ML, Siciliano MJ, Coolbaugh-Murphy M Abstract Microsatellites are short tandem repeats of deoxyribonucleic acid (DNA) sequences which are distributed throughout the genome. Tumors in patients with Lynch syndrome tend to accumulate mutations in microsatellites at a much higher rate than other sequences in the genome resulting in microsatellite instability (MSI). This is due to germline mutations in mismatch repair (MMR) genes. Using small pool-polymerase chain reaction (SP-PCR), previous studies have shown that mutant alleles can be detected in microsatellites of DNA from peripheral blood lymphocytes (PBLs) of Lynch syndrome patients at frequencies that were low, but significantly higher tha... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535041 Fri, 23 Dec 2011 21:54:02 +0100 5535041 http://www.medworm.com/index.php?rid=5535040&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166502%26dopt%3DAbstract Conclusion These data suggest that increased oxidative stress and decreased antioxidant activity are associated with declining renal function. PMID: 22166502 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535040 Fri, 23 Dec 2011 21:54:02 +0100 5535040 http://www.medworm.com/index.php?rid=5535039&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166503%26dopt%3DAbstract Authors: Huh JY, Park G, Jang SJ, Moon DS, Park YJ Abstract ABO is the most clinically important blood group system in transfusion and transplantation medicine. The popular ABO genotyping methods, such as the sequencing of exons 6 and 7 and sequence-specific primer (SSP)-PCR, often lead to ambiguous typing results. Long PCR-sequencing method was designed to analyze two regulatory regions (promoter and CBF/NF-Y enhancer regions) and all genomic sequences (except for intron 1) of the ABO gene. Using rapid DNA polymerase with high-fidelity, we amplified 6.3 kb and 7.3 kb for sequencing of enhancer-exon 1 and exons 2-7, respectively. ABO genotyping was performed using this technique in the peripheral blood of three unrelated families. The time requirements of the PCR amplification and ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535039 Fri, 23 Dec 2011 21:54:02 +0100 5535039 http://www.medworm.com/index.php?rid=5535038&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166504%26dopt%3DAbstract In this study, the cDNAs for the A(1v) and B(1) alleles were first obtained from healthy volunteers and were used as the templates for site-directed mutagenesis to generate expression constructs corresponding to various ABO subtypes including A(1), A(2) (539G>C), A(3) (838C>T), A(1) (829G>A), A(1v) (829G>A), and B(el) (502C>T). K562 erythroleukemia cells were used as the cell study model and were transfected with individual ABO expression constructs. Flow cytometry analysis was then performed to determine the levels of surface antigen expression. Using the relative percentage of antigen-expressing cells as an index for comparison, we found that the levels of A antigen expression for A(1v), A(2) (539G>C), A(3) (838C>T), A(1) (829G>A), and A(1v) (829G>A) were 65.71... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535038 Fri, 23 Dec 2011 21:54:02 +0100 5535038 http://www.medworm.com/index.php?rid=5535037&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166505%26dopt%3DAbstract Authors: Zappacosta R, Aiello FB, D'Antuono T, Procopio AD, Durum SK, Conti P, Rosini S Abstract Immunofluorescence is the most frequently utilized technique to analyze protein expression. Fixed immunofluorescent cell suspensions, however, can only be stored for a week. We investigated whether liquid-based cytology could be used to detect antigens in cultured cells after a long storage period. Murine and human cells were fixed in PreservCyt solution, stored for various periods, and then used to perform an automated immunocytochemical analysis. Phosphorylation of the nuclear transcription factor Stat-5 induced by IL-7 was detected up to 4 months after IL-7 stimulation. Simultaneous nuclear positivity for the proliferation index MIB-1 and membrane positivity for the CD30 antigen were... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535037 Fri, 23 Dec 2011 21:54:02 +0100 5535037 http://www.medworm.com/index.php?rid=5535036&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166506%26dopt%3DAbstract This study indicates that NT-pro-BNP might be a more useful laboratory marker as an adjuvant diagnostic tool for KD than hs-CRP. Especially in a patient with incomplete clinical features of KD, the diagnosis and the start of treatment were delayed to confirm a fever persisting for at least 5 days. Therefore, we expect that NT-pro- BNP would be especially useful for KD patients with these atypical clinical presentations. This study was approved by IRB in Kyung Hee University Medical Center (KMC IRB 1024-01). PMID: 22166506 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535036 Fri, 23 Dec 2011 21:54:02 +0100 5535036 http://www.medworm.com/index.php?rid=5535035&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166507%26dopt%3DAbstract Authors: Zhuang Z, Zhao X, Wu Y, Huang R, Zhu L, Zhang Y, Shi J Abstract The serine-threonine kinase Akt plays an important role in survival pathways by inactivating downstream apoptogenic factors in many cell systems. In the following study, we investigated whether or not the activation of the Phosphatidylinositol 3-kinase (PI3K)-Akt pathway could reduce neuronal apoptosis following subarachnoid hemorrhage (SAH). Rats were randomly divided into 6 groups: control group, SAH group, SAH+ saline group, SAH+ vehicle group, SAH+ Insulin-like Growth Factor 1 (IGF-1) group, and SAH+Ly294002 (PI3K pathway inhibitor) group. All SAH animals were subjected to injection of autologous blood into the cisterna magna twice (on day 0 and on day 1). The administration was executed via cerebral ventr... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535035 Fri, 23 Dec 2011 21:54:02 +0100 5535035 http://www.medworm.com/index.php?rid=5535034&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166508%26dopt%3DAbstract Authors: Forouhar F, Rustagi T, Lamea L Abstract Reports of eosinophilic infiltration of the colon causing obstruction are few. It is even less common to find associated extensive intestinal venulitis, which is similar to and lumped together with so called Mesenteric Inflammatory Veno-Occlusive Disease (MIVOD) or Self-Limited Intestinal Venulitis. Eosinophilic necrotizing lymphadenitis, such as what we report here, has never been reported in association with this disease. A 41-year-old female presented with cramping lower abdominal pain, hematochezia, nausea, and vomiting. Computed tomography revealed the presence of the mass and thickening of the illeocecal wall. Endoscopy confirmed a cecal mass with surface ulceration suggestive of cecal adenocarcinoma. Patient underwent right he... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535034 Fri, 23 Dec 2011 21:54:02 +0100 5535034 http://www.medworm.com/index.php?rid=5535033&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166509%26dopt%3DAbstract We report the case of a 66-year-old male patient diagnosed with refractory anemia with excess blasts-2 with fibrosis (MDS RAEB-2-F) with a normal karyotype and negative findings for both BCR-ABL1 transcript and JAK2 V617F mutations. He refused therapy upon his diagnosis and, after 5 months, his disease progressed to leukemia. The patient was diagnosed with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), based on a bone marrow exam revealing increased blasts (32.8%). Cytogenetic study revealed a complex karyotype, and molecular studies identified a minor BCRABL1 fusion transcript. The patient's general condition deteriorated despite the initiation of induction chemotherapy, and he died approximately 2 weeks after the diagnosis of AML-MRC. This patient's poor clinical o... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535033 Fri, 23 Dec 2011 21:54:02 +0100 5535033 http://www.medworm.com/index.php?rid=5535032&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166510%26dopt%3DAbstract We describe a 45-year-old man who was referred to us for investigation of progressive ptosis. We performed a multiplex ligation-dependent probe amplification (MLPA) assay of mtDNA from muscle tissue and peripheral blood leukocytes, and followed up with gap-polymerase chain reaction (PCR) and direct sequence analysis. Results showed a deletion of a 4,407 bp segment in the mtDNA region, ranging from nucleotide position 8,577 in the MT-ATP6 gene to nucleotide position 12,983 in the MT-ND5 gene. To the best of our knowledge, this is the first report of a CPEO patient with a large novel deletion of mtDNA genetically confirmed by MLPA assay. MLPA can be a feasible platform for clinical laboratories to detect large deletion mutations in the mtDNA for suspected cases. PMID: 22166510 [PubMed - ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535032 Fri, 23 Dec 2011 21:54:02 +0100 5535032 http://www.medworm.com/index.php?rid=5535031&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166511%26dopt%3DAbstract This study aimed to examine fibroblast growth factor-19 (FGF-19) in type 2 diabetic (T2DM) patients with metabolic syndrome (MetS) and to evaluate the relationship between FGF-19 and other cardiovascular risk factors, such as atherogenic index of plasma (AIP) and hsCRP. 26 T2DM patients with MetS and 12 healthy controls were enrolled in the study. Serum FGF-19 levels were measured by sandwich ELISA, and compared with other cardiovascular risk factors; lipid profile, AIP, glucose, HbA1c, and hsCRP. AIP was calculated as log (TG/HDL-c). The median (1-3.quartile) FGF-19 levels in T2DM patients with MetS and healthy controls were 122.90 (108.63-237.60) pg/ml and 293.45 (153.64-370.31) pg/ml, respectively (P=0.003). Patients were also grouped by body mass index (BMI) <30 kg/m(2) (n=13) and â... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535031 Fri, 23 Dec 2011 21:54:02 +0100 5535031 http://www.medworm.com/index.php?rid=5535030&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22166512%26dopt%3DAbstract Authors: Choi J, Kim HJ, Chang MH, Choi JR, Yoo JH Abstract Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk factor for recurrent venous thrombosis, inherited as an autosomal-dominant trait, either homozygous or heterozygous. It may be caused by point mutations in the gene (PROS1) encoding PS, which contains 15 exons on the chromosome 3q11.2. Only a few point mutations associated with the PROS1 gene in patients with hereditary PS deficiency have been reported. A 60-year-old woman was admitted for deep vein thrombosis (DVT) of the right lower extremity. Upon coagulation examination, both the free PS antigen level and the total PS antigen level were decreased, so the DNA-PCR products of all 15 exons, including the exon-intron boundaries of the PROS... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5535030 Fri, 23 Dec 2011 21:54:02 +0100 5535030 http://www.medworm.com/index.php?rid=5421146&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075502%26dopt%3DAbstract Conclusion We report on the successful development of a model - based on the algorithmic and consultative integration of transfusion medicine and coagulation - that customizes blood component, derivative, and recombinant therapies appropriate for an individual patient's need, resulting in targeted transfusion therapy and associated with reduced blood component utilization. PMID: 22075502 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421146 Fri, 18 Nov 2011 22:18:03 +0100 5421146 http://www.medworm.com/index.php?rid=5421145&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075503%26dopt%3DAbstract Conclusion To the best of our knowledge, this is the first time that E-cadherin and β-catenin have been studied in detail in these two cell lines. These data seem to be very promising in terms of adding insight into the cell biology of CC and initiating investigations that aim to identify cytoskeletal dynamics and ultimately provide guidelines for developing new therapeutic strategies. PMID: 22075503 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421145 Fri, 18 Nov 2011 22:18:03 +0100 5421145 http://www.medworm.com/index.php?rid=5421144&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075504%26dopt%3DAbstract In conclusion, long-term glycemic control does not contribute to fetal-type erythropoiesis, but increased NOx production seems to play an important role in the enhanced HbF synthesis of diabetics. PMID: 22075504 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421144 Fri, 18 Nov 2011 22:18:03 +0100 5421144 http://www.medworm.com/index.php?rid=5421143&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075505%26dopt%3DAbstract Authors: Moon HW, Noh J, Yun YM, Kim HY, Yun IJ, Song J, Kim JQ Abstract The therapeutic dose of warfarin is dependent upon intrinsic patient characteristics that are highly variable. We assessed the effects of CYP2C9, VKORC1 1173 C/T polymorphisms, and old age on warfarin dosing and sensitivity by measuring plasma S-/R-warfarin levels in Korean patients. INR and the plasma S-/R-warfarin concentrations were determined in 58 patients who had the VKORC1 1173C/T CYP2C9 genotypes, were on a long-term anticoagulation regimen with warfarin, and took a daily dose of warfarin. The pharmacokinetic sensitivity of warfarin was significantly higher in the CYP2C9 *1/*3 genotypes than in the CYP2C9 *1/*1 genotypes [ratio of S-warfarin concentration/dose, 0.53 vs. 0.21; p=0.01]. Pharmacodynamic s... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421143 Fri, 18 Nov 2011 22:18:03 +0100 5421143 http://www.medworm.com/index.php?rid=5421142&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075506%26dopt%3DAbstract Authors: Meng R, Zhu DL, Bi Y, Yang DH, Wang YP Abstract The present study examines the effects of apocynin on oxidative stress and antioxidant enzymes in high-fat diet (HFD) induced obese mice. After 12 weeks on HFD, the C57BL/6J mice that clearly exhibited insulin resistance received apocynin (2.4g/L) in their drinking water for five weeks. The results show that apocynin treatment significantly ameliorated hyperglycemia, hyperinsulinemia and dyslipidemia in HFD mice. Furthermore, the intraperitoneal glucose tolerance test (IPGTT) and homeostasis model assessment of insulin resistance (HOMA-IR) indicate significant improvement of insulin sensitivity in HFD mice after apocynin treatment. Compared to the HFD control mice, serum malondialdehyde (MDA) was significantly lower and serum... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421142 Fri, 18 Nov 2011 22:18:03 +0100 5421142 http://www.medworm.com/index.php?rid=5421141&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075507%26dopt%3DAbstract Authors: Zhang X, Zhao XD, Shi JX, Yin HX Abstract The p38 mitogen-activated protein kinase (MAPK) plays an important role in apoptosis and is also involved in the development of cerebral vasospasm after subarachnoid hemorrhage (SAH). Here, we sought to examine whether inhibition of p38 MAPK could attenuate cerebral vasospasm and investigate the underlying mechanisms in a rabbit SAH model. SAH was established in rabbits (n=12/group) using the double-hemorrhage method. We observed apparent vasospasm in the basilar arteries of rabbits with SAH, which was significantly attenuated by SB203580, a selective p38MAPK inhibitor. Immunoblotting assays showed enhanced phosphorylation of p38 MAPK and ATF2 and increased caspase-3 cleavage following SAH, which were, however, markedly suppressed ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421141 Fri, 18 Nov 2011 22:18:03 +0100 5421141 http://www.medworm.com/index.php?rid=5421140&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075508%26dopt%3DAbstract Authors: Park BR, Kim TH, Kim HR, Lee MK Abstract The goal of this study was to determine the time to detection of Candida species isolates using the two most commonly used automated blood culture systems, and to evaluate rapid, widely available methods for the presumptive identification of C. albicans. Candidemia models of eight commonly detected Candida species were prepared using ATCC standards. The times to detection were evaluated using the BACTEC 9240 (Becton Dickinson) and BacT/Alert 3D (bioMerieux) automated blood culture systems. The presence of pseudohyphae clusters was examined by Gram staining and wet preparation. Germ tube tests were performed directly from blood culture bottles. All samples were cultured on blood agar plates and macroscopically examined for the presen... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421140 Fri, 18 Nov 2011 22:18:03 +0100 5421140 http://www.medworm.com/index.php?rid=5421139&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075509%26dopt%3DAbstract We report the case of a 3-year-old child who presented with seizures and was found to have a non-enhancing parietal lobe lesion with overlying calvarial remodeling. Following complete resection of the tumor, histopathological examination revealed bipolar spindle cells centered on cortical blood vessels, forming pseudorosettes with an ependymomatous appearance. Tumor cells were glial fibrillary acidic protein (GFAP) positive, yet failed to label with synaptophysin. Scattered tumor cells had a "dot-like" cytoplasmic staining with the antibody against epithelial membrane antigen (EMA). Collectively, these features favored a diagnosis of AG. Interestingly, the monoclonal antibody against Ki-67 (MIB-1) labeling rate averaged approximately 10.0%. The child continues to be tumor- and seizure-free... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421139 Fri, 18 Nov 2011 22:18:03 +0100 5421139 http://www.medworm.com/index.php?rid=5421138&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075510%26dopt%3DAbstract We report a recent case of IVLBCL presenting as acute cholecystitis and pancytopenia. The patient underwent a simple cholecystectomy. Examination of the gallbladder showed clusters of large lymphoma cells within lumina of small vessels in the gallbladder wall. These cells were positive for CD5/CD20 and negative for CD3, CD10, and TdT. Based on these findings, a diagnosis of IVLBCL was made. Coincidently, circulating lymphoma cells were identified in the peripheral blood and confirmed by flow cytometric analysis (positive for CD19/CD20/CD5, without light chain expression). The patient was started on chemotherapy but subsequently died of chemotherapy related multi-organ failure 10 days after the initial diagnosis. PMID: 22075510 [PubMed - in process] (Source: Annals of Clinical and Labor... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421138 Fri, 18 Nov 2011 22:18:03 +0100 5421138 http://www.medworm.com/index.php?rid=5421137&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075511%26dopt%3DAbstract Authors: Lee SG, Park TS, Cho SY, Lim G, Park GJ, Oh SH, Cho EH, Chong SY, Huh JY Abstract SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clin... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421137 Fri, 18 Nov 2011 22:18:03 +0100 5421137 http://www.medworm.com/index.php?rid=5421136&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075512%26dopt%3DAbstract Authors: Lee SH, Park JH, Park SK, Lee EH, Choi JI, Visentin GP, Park TS, Oh SH, Kim SR Abstract Thrombotic thrombocytopenic purpura (TTP) is a devastating systemic disorder that is characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurological dysfunction, and renal failure. In the hereditary form of TTP, severe deficiency of ADAMTS13, a plasma metalloprotease that cleaves von Willebrand factor, is associated with the development of this disorder. A 34-year-old woman was diagnosed with TTP due to severely reduced ADAMTS13 activity; clinical manifestations resolved only by repeated total plasma exchanges or transfusion. Homozygous and heterozygous Y658C (c.1973A>G) alleles were detected in the patient and her child with severe and mild ADAMTS13 deficiencies, ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421136 Fri, 18 Nov 2011 22:18:03 +0100 5421136 http://www.medworm.com/index.php?rid=5421135&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075513%26dopt%3DAbstract Authors: Cho SY, Lim G, Oh SH, Lee HJ, Suh JT, Lee J, Lee WI, Lee HG, Yoon HJ, Park TS Abstract Because plasma cell leukemia (PCL) is a rare and distinct variant among plasma cell dyscrasias, recent clinical and cytogenetic studies have been performed in different ethnic groups to define the characteristics of these PCL patients. As far as we know, IGH rearrangements involving t(11;14) and (14;16) are significantly more frequent in PCL than in myeloma patients. However, PCL cases associated with t(6;14)(p21;q32) or IGH-CCND3 rearrangement are extremely rare in the literature; only one PCL case with t(6;14) has been documented. A 61-year-old female was admitted due to fatigue, weight loss, and exertional dyspnea. Plasmacytoid cells were counted up to 76% at a peripheral blood film, ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421135 Fri, 18 Nov 2011 22:18:03 +0100 5421135 http://www.medworm.com/index.php?rid=5421134&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075514%26dopt%3DAbstract Authors: Kim DW, Cho D, Yazer MH, Lee HJ, Kim KH, Shin MG, Suh SP, Shin JH, Ryang DW Abstract A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A(w)14; 699 C>A, H233Q) was found by sequence analysis of exons 6&7 and in those with the A(w)14 allele, complete ABO analysis was performed. The propositus and his son had an A(w) phenotype with the A(w)14/O01 genotype. His daughter had an A(w)14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A(w)14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it w... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421134 Fri, 18 Nov 2011 22:18:03 +0100 5421134 http://www.medworm.com/index.php?rid=5421133&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075515%26dopt%3DAbstract We present a case of Nora's lesion in the distal ulna of an 8 year-old girl, in which, besides the histological features, we were able to demonstrate the translocation t(1:17)(q32;q21). Thus, we would like to emphasize the utility of cytogenetic studies in the correct and rapid diagnosis of clinically and radiologically ambiguous periosteal-based lesion. PMID: 22075515 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421133 Fri, 18 Nov 2011 22:18:03 +0100 5421133 http://www.medworm.com/index.php?rid=5421132&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075516%26dopt%3DAbstract Authors: Szigeti R, Finegold MJ, Kellermayer R Abstract The peri-appendiceal red patch (PARP) or appendiceal orifice inflammation (AOI) is a known complication of non-pancolonic ulcerative colitis (UC), but it is not well documented in the pediatric pathology and gastroenterology literature. Here we describe the youngest patient with this manifestation to date and provide a brief review on PARP associated UC. PMID: 22075516 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421132 Fri, 18 Nov 2011 22:18:03 +0100 5421132 http://www.medworm.com/index.php?rid=5421131&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22075517%26dopt%3DAbstract Authors: Roseff SD PMID: 22075517 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5421131 Fri, 18 Nov 2011 22:18:03 +0100 5421131 http://www.medworm.com/index.php?rid=5141507&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844568%26dopt%3DAbstract Authors: Knight JA Abstract Excess body weight is a very serious problem, especially in North America and Europe. It has been referred to as a "pandemic" since it has progressively increased over the past several decades. Moreover, excess body weight significantly increases the risk of numerous diseases and clinical disorders, including all-cause mortality, coronary and cerebrovascular diseases, various cancers, type 2 diabetes mellitus, hypertension, liver disease and asthma, as well as psychopathology, among others. Unfortunately, overweight and obesity are now common in both young children and adolescents. Although the causes of excess body weight are multi-factorial, the most important factors are excess caloric intake coupled with limited energy expenditure. Therefore, lifesty... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141507 Fri, 19 Aug 2011 23:04:06 +0100 5141507 http://www.medworm.com/index.php?rid=5141506&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844569%26dopt%3DAbstract Authors: Stasik CJ, Davis M, Kimler BF, Fan F, Damjanov I, Thomas P, Tawfik OW Abstract Tumor grade, size and margin status are the most significant factors in predicting the behavior of ductal carcinoma in-situ (DCIS). The inclusion of necrosis and nuclear grade in the grading of DCIS has demonstrated a fair but suboptimal agreement between pathologists. The grading of DCIS was studied and compared to the Van Nuys (VN) system, by using our newly proposed unifying "nuclear grade + proliferation index (N+P) grading system for invasive carcinomas. 162 DCIS tumors were studied including 49 VN I, 31 VN II, and 82 VN III cases. The VN and N+P systems were compared with each other and correlated with tumor size, ER, PR, p53, Her-2, EGFR, Bcl-2, p27 and p21 status. The two systems demonst... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141506 Fri, 19 Aug 2011 23:04:06 +0100 5141506 http://www.medworm.com/index.php?rid=5141505&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844570%26dopt%3DAbstract Authors: Kalra VK, Debari VA, Zauk A, Kataria P, Myridakis D, Kiblawi F Abstract Patent ductus arteriosus (PDA) is highly prevalent in pre-term neonates (PTN) and has been recognized as a neonatal co-morbidity. The purpose of this study was to determine if levels of brain (or B-type) natriuretic peptide (BNP), a peptide secreted by ventricular myocytes in response to volume or pressure overload, correlate with the size of the PDA. In a prospective design, 52 PTN (no PDA: n=24; PDA: n=28) were studied after obtaining parental consent. Those with genetic anomalies and congenital heart disease, except for PDA and patent foramen ovale, were excluded. Echocardiographic estimates of the diameters of the PDA (or absence of PDA) were made concurrently with capillary blood collection for BN... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141505 Fri, 19 Aug 2011 23:04:06 +0100 5141505 http://www.medworm.com/index.php?rid=5141504&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844571%26dopt%3DAbstract Conclusions Our study showed CA using EDTA-BM significantly underestimated %R. Our observation might have a ramification to other quantitative workup in hematologic malignancy. PMID: 21844571 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141504 Fri, 19 Aug 2011 23:04:06 +0100 5141504 http://www.medworm.com/index.php?rid=5141503&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844572%26dopt%3DAbstract Authors: Hwang K, Park CJ, Huh HJ, Han SH, Jang S, Chi HS Abstract We measured neutrophil-associated immunoglobulin (NAIg) levels using flow cytometry to establish the reference interval for NAIg and to estimate NAIg in patients with or without neutropenia. Peripheral blood from 152 individuals was analyzed for NAIg detection by flow cytometry. Using fluorescescent-conjugated anti-CD10 monoclonal antibody and anti-human immunoglobulins, proportions of NAIgG, NAIgA, and NAIgM bound to neutrophils were measured. Reference intervals for NAIg were set as NAIgG <2.6%, NAIgA <3.2%, and NAIgM <3.4%, representing the 95th percentile of data from 40 healthy individuals. 63 patients with neutropenia showed positivities of 49.2% (31/63) for NAIgG, 50.0% (19/38) for NAIgA, and 42.9% f... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141503 Fri, 19 Aug 2011 23:04:06 +0100 5141503 http://www.medworm.com/index.php?rid=5141502&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844573%26dopt%3DAbstract Authors: Palacio C, Alexandraki I, Bertholf RL, Mooradian AD Abstract Tangier disease is a rare genetic disorder of lipid metabolism characterized by low concentrations of plasma high density lipoprotein (HDL) and low density lipoprotein (LDL) cholesterol with normal or elevated levels of triglycerides. In this case report we describe a patient with diabetes who experienced an episode of urosepsis with a plasma lipid profile resembling Tangier disease. Experimental evidence in the literature suggests that similar lipid changes may occur due to cytokines released during sepsis. Clinicians should be aware of these changes to avoid misdiagnosis of lipid disorders. PMID: 21844573 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141502 Fri, 19 Aug 2011 23:04:06 +0100 5141502 http://www.medworm.com/index.php?rid=5141498&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844574%26dopt%3DAbstract Conclusion Our results demonstrate that human muscle cells express B7-H1 in polymyositis. The muscle-related expression of B7-H1 may be helpful in the diagnosis of polymyositis and might be an indicator of prognosis of polymyositis. PMID: 21844574 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141498 Fri, 19 Aug 2011 23:04:06 +0100 5141498 http://www.medworm.com/index.php?rid=5141492&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844575%26dopt%3DAbstract We report the identification and characterization of four carbapenem-resistant isolates (three Klebsiella pneumoniae and one Escherichia coli) among 515 clinical Enterobacteriaceae isolates collected during a 7-month study period in Ankara, Turkey. The four isolates were recovered from blood and urine specimens in patients with varied clinical manifestations. They had distinct pulsed-field gel electrophoresis patterns and harbored a variety of β-lactamases including bla(TEM-1), bla(SHV-12) genes, bla(SHV-11), and/or bla(CTX-M-15). PCR and sequencing analysis revealed that the bla(OXA-48) gene was present in all four isolates. Our data indicated that the OXA-48-type carbapenemase was the only mechanism for carbapenem resistance in our hospital. PMID: 21844575 [PubMed - in process] (Sou... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141492 Fri, 19 Aug 2011 23:04:06 +0100 5141492 http://www.medworm.com/index.php?rid=5141491&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844576%26dopt%3DAbstract In this study, we investigated three newborn males who were diagnosed with MSUD using a standard newborn screening test and amino acid analysis. We screened all coding regions of the BCKDHA, BCKDHB and DBT genes for abnormalities using direct sequencing. Changes in these genes are associated with MSUD. For one patient with complex deletion/duplication mutations, we also performed TOPO TA cloning sequencing. Amino acid analysis showed elevated levels of all branched chain amino acids (BCAAs) in all patients. Three patients were either homozygous or compound heterozygous for the BCKDHA mutations. Patient 1 was homozygous for c.1036C>T (p.R346C); patient 2 was heterozygous, with c.632C>T (p.T211M) and c.659C>T (p.A220V); and patient 3 had c.1204_1209dupAAACCC (p.L402_P403dup) and c.1... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141491 Fri, 19 Aug 2011 23:04:06 +0100 5141491 http://www.medworm.com/index.php?rid=5141490&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844577%26dopt%3DAbstract Authors: Rickard KA, Parker JR, Vitaz TW, Plaga AR, Wagner S, Parker JC Abstract Papillary tumor of the pineal region (PTPR) is a newly recognized distinct entity in the 2007 World Health Organization nomenclature. This tumor is characterized by epithelial-appearing areas with papillary features and more densely cellular areas that often display ependymal-like differentiation. Ultrastructurally, this rare neuroepithelial tumor possesses neuroendocrine, secretory, and ependymal organelles that likely originate from the subcommissural organ (SCO) near the aqueduct of Sylvius. To date, approximately fifty-seven described cases worldwide have been recognized, with ages ranging from 5 years to 66 years (mean age=32 years). Clinical presentation most often includes headache and obstructi... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141490 Fri, 19 Aug 2011 23:04:06 +0100 5141490 http://www.medworm.com/index.php?rid=5141489&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844578%26dopt%3DAbstract Authors: Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK Abstract Peroxisome biogenesis disorders (PBD) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly. Zellweger syndrome (ZS) is the most severe form of PBD and is characterized by craniofacial abnormalities, severe hypotonia, neonatal seizures, ocular abnormalities, psychomotor retardation, hepatomegaly and increased levels of very long chain fatty acids (VLCFA). The most common mutation associated with the PBD is PEX1. Here, the first Korean patient with ZS confirmed by clinical, biochemical, and molecular findings is reported. Two novel mutations of the PEX1 gene were identified in the patient with ZS. The patient was a co... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141489 Fri, 19 Aug 2011 23:04:06 +0100 5141489 http://www.medworm.com/index.php?rid=5141487&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844579%26dopt%3DAbstract We present the case of a 61 year old female who developed skin rash and pancytopenia following sex-mismatched second liver transplant for autoimmune hepatitis. Initial skin biopsies revealed vacuolar interface change, keratinocyte necrosis and a mild mononuclear superficial perivascular infiltrate. The bone marrow was markedly hypocellular with scattered CD8 positive T lymphocytes. FISH analysis revealed chimerism with the presence of male donor cells in the skin and bone marrow biopsies. This case illustrates the diagnostic utility of FISH in detecting the presence of donor-derived cells in tissues affected by GVHD. PMID: 21844579 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141487 Fri, 19 Aug 2011 23:04:06 +0100 5141487 http://www.medworm.com/index.php?rid=5141485&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844580%26dopt%3DAbstract Authors: Jung CL, Kim HJ, Kim DH, Huh H, Song MJ, Kim SH Abstract Gain-of-function mutations of the CKIT gene have been reported to specifically occur in core-binding factor (CBF) acute myeloid leukemia (AML) with a poor prognostic implication. Here we report a case of therapy-related AML with t(9;11)(p22;q23) who had CKIT mutation. A 48-year-old woman with breast cancer received partial mastectomy followed by 6 cycles of adjuvant chemotherapy and radiation therapy. At 28 months from the diagnosis of breast cancer, she was diagnosed as having AML with blasts 81% in bone marrow. Cytogenetic analysis revealed t(9;11)(p22;q23), and FISH showed 96.5% of MLL break-apart signals. RT-PCR study revealed MLL(11q23)/MLLT3(9p22) chimeric transcript. FLT3-ITD and NPM1 mutations were both negat... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141485 Fri, 19 Aug 2011 23:04:06 +0100 5141485 http://www.medworm.com/index.php?rid=5141484&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844581%26dopt%3DAbstract Authors: Park KJ, Park HD, Lee SY, Ki CS, Choe YH Abstract X-linked liver glycogenosis (XLG) is caused by a mutation in the PHKA2 gene which encodes the alpha subunit of phosphorylase kinase (PHK). Although XLG is not a rare disease, there have been no reports of PHKA2 mutations in Koreans. A 5-year-old boy presented with easy fatigability and hepatomegaly. Liver enzymes were increased and liver histology revealed deposition of glycogen. The PHK activity was markedly decreased compared to control. No amplification was observed at exon 8 of the PHKA2 gene, as a result of the deletion of exon 8. Sequence analysis revealed a hemizygous deletion in the region of exon 8 (c.717+781_864+225del1626). The patient was diagnosed as having XLG I. To the best of our knowledge, this is the first... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141484 Fri, 19 Aug 2011 23:04:06 +0100 5141484 http://www.medworm.com/index.php?rid=5141483&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21844582%26dopt%3DAbstract Authors: Hajdu SI PMID: 21844582 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=5141483 Fri, 19 Aug 2011 23:04:06 +0100 5141483 http://www.medworm.com/index.php?rid=4528835&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325247%26dopt%3DAbstract Authors: Reiss RF Current FDA regulations and AABB standards do not adequately protect the well-being of blood donors. Several practices have adverse consequences for donors, including: elevated incidence of donation related reactions and injuries, iron deficiency anemia in premenopausal women, and inadequate counseling of donors to obtain medical follow-up for health risks identified during pre-donation health screening. These practices can be improved without impacting negatively on the national blood supply. In addition to revising current blood collection operations, blood centers should explore the feasibility of establishing expanded donor health screening programs and determining their effectiveness in improving donor health, donor recruitment, and donor retention. PMID: 213... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528835 Mon, 28 Feb 2011 23:45:06 +0100 4528835 http://www.medworm.com/index.php?rid=4528834&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325248%26dopt%3DAbstract Authors: Masood S, Feng D, Tutuncuoglu O, Fischer G, Bakhshandeh M, Bertholf RL, Wolfson D The aim of this study was to investigate the accuracy of imprint cytology (IC) of breast core biopsy under ultrasound guidance and to assess the value of a rapid on-site preliminary diagnosis of breast lesions. A total of 437 breast core needle biopsies under ultrasound guidance with touch imprint cytology, histology, and final diagnosis were reviewed. These cases were collected from archived files at our institution. Of 437 core biopsies, IC classified 241 (55%) as benign; 22 (5%) as probably benign; 28 (6%) as probably malignant; 107 (25%) as malignant; and 39 (9%) as inadequate for IC diagnosis. Histological classifications for the 437 cases were: 285 (65%) benign; 132 (30%) malignant; 16 (4%)... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528834 Mon, 28 Feb 2011 23:45:06 +0100 4528834 http://www.medworm.com/index.php?rid=4528833&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325249%26dopt%3DAbstract In this study, exogenous administration of recombinant mouse macrophage migration inhibitory factor (rMIF), at a dose close to the levels found in the blood of sepsis patients, significantly enhanced serum corticosterone concentration but neither altered circulatory function nor stimulated nitric oxide (NO) release in rats. Incubation of cultured rat cardiomyocytes with 10 ng/ml and 20 ng/ml of rMIF did not cause changes in GR protein expression compared to control values but significantly decreased the expression of heat shock protein 90. GR specific binding activity was significantly inhibited by incubation of rat hepatocytes with 20 ng/ml rMIF alone or with 100 μmol/L L-NAME (a NO synthase inhibitor), and no significant difference was found between the two groups. These results suggest... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528833 Mon, 28 Feb 2011 23:45:06 +0100 4528833 http://www.medworm.com/index.php?rid=4528832&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325250%26dopt%3DAbstract In conclusion, the Innovance D-dimer assay is suitable for monitoring D-dimer concentrations in various clinical conditions and should be useful in clinical laboratories. PMID: 21325250 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528832 Mon, 28 Feb 2011 23:45:06 +0100 4528832 http://www.medworm.com/index.php?rid=4528831&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325251%26dopt%3DAbstract Authors: Jin W, Kong J, Lu T, Wang H, Ni H, Wu J, Dai Y, Jiang J, Liang W Erythropoietin (EPO) has demonstrated neuroprotective effects against traumatic brain injury (TBI), but the underlying mechanisms remain unclear. The signaling pathway of an antioxidant transcription factor, nuclear factor erythroid 2-related factor 2 (Nrf2), has been shown in our previous studies to play an important role in protecting mice from TBI-induced secondary brain injury. The present study explored the effect of recombinant human erythropoietin (rhEPO) on cerebral activation of the Nrf2 signaling pathway and secondary brain injury in mice after TBI. Adult male ICR mice were randomly divided into three groups: (1) Sham group; (2) TBI group; and (3) TBI+rhEPO group (n = 12 per group). Closed head injury w... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528831 Mon, 28 Feb 2011 23:45:06 +0100 4528831 http://www.medworm.com/index.php?rid=4528830&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325252%26dopt%3DAbstract This study provides a preliminary evaluation of a multiplex assay from Seegene that uses capillary electrophoresis as the detection platform for viral and bacterial respiratory pathogens. We compared this technology to a real-time PCR assay for 3 viral targets. Thirty respiratory samples were collected that had previously tested positive for either Flu A, Flu B, or RSV (ten of each). The Seegene assay detected 9/10 Flu A samples, 9/10 Flu B, and 10/10 RSV, for a total detection rate of 93%. The two samples that were undetected by the Seegene assay both generated late-crossing thresholds on the real-time platform, consistent with low viral loads. The Seeplex assay provides a promising alternative for multiplex respiratory testing. PMID: 21325252 [PubMed - in process] (Source: Annals of ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528830 Mon, 28 Feb 2011 23:45:06 +0100 4528830 http://www.medworm.com/index.php?rid=4528829&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325253%26dopt%3DAbstract This study evaluated the activity of tigecycline combined with imipenem, amikacin, and ciprofloxacin against clinical isolates of multidrug-resistant Klebsiella pneumoniae and Escherichia coli co-producing extended-spectrum β-lactamases and acquired AmpC β-lactamases. Broth microdilution tests were performed for cefotaxime, ceftazidime, cefepime, imipenem, amikacin, ciprofloxacin, and tigecycline. Time-kill synergy studies were tested for tigecycline plus imipenem, tigecycline plus amikacin, and tigecycline plus ciprofloxacin. Imipenem (MIC(90) = 1 μg/ml for both K. pneumoniae and E. coli) and tigecycline (MIC(90) = 2 μg/ml for K. pneumoniae and 1 μg/ml for E. coli) were the most potent agents. Combination studies with tigecycline plus imipenem resulted in synergy against 18 K. pneumo... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528829 Mon, 28 Feb 2011 23:45:06 +0100 4528829 http://www.medworm.com/index.php?rid=4528828&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325254%26dopt%3DAbstract Authors: Jang JH, Jin DK, Kim JH, Tan HK, Kim JW, Lee SY, Ki CS, Park HD Mutations in the CYP21A2 gene encoding the 21-hydroxylase enzyme account for >90% of congenital adrenal hyperplasia (CAH) cases. Approximately 20% of mutant alleles carrying large deletion/duplication have also been reported. Herein, we describe the use of the multiplex ligation-dependent probe amplification (MLPA) method for convenient and rapid detection of deletions/duplications in the CYP21A2 gene. We used MLPA to analyze the gene dose of CYP21A2 MLPA in 13 Korean patients who previously underwent direct sequencing for the molecular diagnosis of CAH. The MLPA assays identified 5 patients with CYP21A2 deletions; all 5 patients carried a single mutant allele peak in sequence analysis. These results demonstrat... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528828 Mon, 28 Feb 2011 23:45:06 +0100 4528828 http://www.medworm.com/index.php?rid=4528827&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325255%26dopt%3DAbstract In conclusion, compared with HC-II test, the genotyping tests showed more than fair concordance but lower sensitivity in the detection of HR-HPVs, limiting their usefulness as HR-HPV screening tools. PMID: 21325255 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528827 Mon, 28 Feb 2011 23:45:06 +0100 4528827 http://www.medworm.com/index.php?rid=4528826&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325256%26dopt%3DAbstract We report two patients without tuberous sclerosis whose nephrectomy specimens contained renal cell carcinoma directly contiguous to AML in the same kidney. When immunohistochemical staining for epidermal growth factor receptor (EGFR) was performed on the RCCs, an interesting observation was made. The contiguous AMLs demonstrated strong positivity for EGFR, a feature not observed in isolated AMLs. The significance of this finding is unclear. Paracrine regulation may exist between these two closely adjacent tumors leading to synchronous high expression of EGFR in the AML adjacent to RCC, which may in turn affect the biologic behavior of these AMLs, compared to AMLs not associated with RCC. PMID: 21325256 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528826 Mon, 28 Feb 2011 23:45:06 +0100 4528826 http://www.medworm.com/index.php?rid=4528825&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325257%26dopt%3DAbstract We report a plasma cell neoplasm in conjunction with a glioblastoma multiforme (GBM) of the conus medullaris in a 42-year-old man. Glioblastoma is a World Health Organization (WHO) grade IV neoplasm that requires surgical intervention, radiation, and possibly chemotherapy. Astrocytomas of the spinal cord are rare neoplasms, with intramedullary glioblastomas comprising only 1% to 3%. Plasma cell neoplasms result from monoclonal proliferation of mature B cells; they have been reported as a primary malignancy with gliomas arising after treatment. Secondary plasma cell neoplasms arising within glioblastomas have not previously been described. However, there have been reports of glioblastomas related to other plasma cell and hematopoietic diseases such as Waldenstrom's macroglobulinemia and mye... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528825 Mon, 28 Feb 2011 23:45:06 +0100 4528825 http://www.medworm.com/index.php?rid=4528824&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325258%26dopt%3DAbstract We report the first in-depth description of a boy with FA who developed acute myeloid leukemia with complex hypodiploidy karyotype after successful stem cell transplantation. Of note, the leukemic cells consistently showed loss of heterozygosity (LOH) of the short arm of chromosome 17 (17p), which harbors the TP53 tumor suppressor gene. The complex hypodiploidy karyotype of the leukemic cells with LOH for 17p may represent a unique karyotypic profile that reflects genomic instability and thereby confers poor prognosis. PMID: 21325258 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528824 Mon, 28 Feb 2011 23:45:06 +0100 4528824 http://www.medworm.com/index.php?rid=4528823&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325259%26dopt%3DAbstract Authors: Cho SY, Kim SY, La Jeon Y, Oh SH, Cho EH, Lee WI, Cho KS, Park TS Although three-way Philadelphia (Ph) variant translocation has been uncommonly (3~8%) reported in chronic myeloid leukemia (CML), it has been even more rarely described in acute leukemias (ALs). When we reviewed the Mitelman database and the literature, we found about 595 three-way Ph variant cases; among these, only 39 three-way Ph variant translocations in AL were documented. Here, we report a novel three-way Ph variant case of t(8;9;22) in adult acute lymphoblastic leukemia (ALL). Based on bone marrow morphology, chromosome fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and flow cytometrry, this patient was diagnosed with B lymphoblastic leukemia/lymphoma a... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528823 Mon, 28 Feb 2011 23:45:06 +0100 4528823 http://www.medworm.com/index.php?rid=4528822&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325260%26dopt%3DAbstract Authors: Kim YG, Cho SY, Park TS, Oh SH, Yoon HJ A 55-year-old Korean woman was initially diagnosed with acute myelomonocytic leukemia (AML). After induction chemotherapy was performed using cytarabine, idarubicin, and G-CSF, complete remission (CR) was subsequently achieved following reinduction chemotherapy using the same chemotherapeutic agents. Thirty-six months after the initial CR, an increase in immature cells (up to 12.0%) was observed in the patient's bone marrow. Because chromosome analysis revealed a karyotype of 46,XX,del(7)(q22) in all of the analyzed cells, the patient was diagnosed with therapy-related myelodysplastic syndrome (t-MDS). Although the patient subsequently received chemotherapy and G-CSF for neutropenia, t-MDS rapidly progressed after 3 months to therapy-rel... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528822 Mon, 28 Feb 2011 23:45:06 +0100 4528822 http://www.medworm.com/index.php?rid=4528821&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325261%26dopt%3DAbstract Authors: Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here, the first Korean neonate diagnosed with SCADD by biochemical and genetic findings is reported. The patient has remained asymptomatic by avoiding hypoglycemia. An increased concentration of butylcarnitine was detected on newborn screening. Subsequent urine organic acid... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528821 Mon, 28 Feb 2011 23:45:06 +0100 4528821 http://www.medworm.com/index.php?rid=4528820&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325262%26dopt%3DAbstract We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48%, but normal AT III antigen level at 103%, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48%) but had normal AT antigen levels (116%), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygo... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528820 Mon, 28 Feb 2011 23:45:06 +0100 4528820 http://www.medworm.com/index.php?rid=4528819&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325263%26dopt%3DAbstract Authors: Lee EY, Chung HJ, Ki CS, Yoo JH, Choi JR Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT. Using DNA samples from a RTT patient and her parents, we sequenced three exons and flanking intron regions of the MECP2 gene using the polymerase chain reaction. Sequencing of the MECP2 gene in the proband revealed a novel 41-base pair deletion in exon 4 (c.1152_1192del41). This mutation resulted in premature termination of the 487 amino acid protein at the 390th codon, predicting a partial loss of the C-terminal domain. We did not observe this mutation in either parent of the RTT patient, but further studies are needed to evaluate the possibility of germline mosaicism. ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528819 Mon, 28 Feb 2011 23:45:06 +0100 4528819 http://www.medworm.com/index.php?rid=4528818&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21325264%26dopt%3DAbstract Authors: Hajdu SI PMID: 21325264 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4528818 Mon, 28 Feb 2011 23:45:06 +0100 4528818 http://www.medworm.com/index.php?rid=4077907&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947804%26dopt%3DAbstract We examined the clinical, histopathologic, and prognostic features of TN tumors in AA and Caucasian women. Tumor size, grade, histologic type, lymphovascular invasion (LVI), lymph node status, patient survival, ploidy status, and expression of ER, PR, p53, epidermal growth factor receptor (EGFR), MIB-1, Bcl-2, Her-2, p27, and p21 were evaluated. The TN tumors (75%) were high grade, large, aneuploid tumors that occurred in younger women and were more likely to have a high rate of LVI, elevated MIB-1 score, and nodal metastases. Patients with TN tumors showed poorer overall survival. There was no difference in overall or disease-free survival (p = 0.46) in the AA versus Caucasian women. LVI was a significant predictor of overall survival in AA but not in Caucasian women. There were minor dif... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077907 Tue, 19 Oct 2010 04:20:03 +0100 4077907 http://www.medworm.com/index.php?rid=4077906&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947805%26dopt%3DAbstract In conclusion, p53 staining detects a higher percentage of BK virus infected cells than SV40 staining alone. Thus, for diagnosis of BK virus infection in renal allograft biopsies, p53 staining is a sensitive and specific method when used along with SV40 staining. PMID: 20947805 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077906 Tue, 19 Oct 2010 04:20:03 +0100 4077906 http://www.medworm.com/index.php?rid=4077905&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947806%26dopt%3DAbstract This study determined the impact of donor-specific antibodies (DSA) against class I HLA private antigens (DS-HLA) or HLA-A and -B cross-reactive group (DS-CREG) in kidney transplantation. Pre- and post-transplant sera of 133 renal allograft patients who had negative pretransplant complement-dependent cytotoxicity were tested for HLA class I antibody specificities by SA-PRA. Clinical relevance of the flow cytometric crossmatch test (FCXM) for the detection of class I DS-HLA or DS-CREG was analyzed. The sensitivity of FCXM to detect SA-PRA-defined class I DSA was 50% (5/10) and the specificity was 98.4% (121/123). Of 133 renal allograft recipients, including 26 patients with biopsy-proven acute antibody-mediated rejection (AMR), pretransplant DS-HLA or DS-CREG were detected in 10 patients. P... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077905 Tue, 19 Oct 2010 04:20:03 +0100 4077905 http://www.medworm.com/index.php?rid=4077904&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947807%26dopt%3DAbstract This study tested whether a panel of biomarkers might be useful in the diagnosis of acute ischemic stroke. Consecutive patients with suspected stroke presenting to the emergency department of a university hospital in Korea were enrolled. Plasma specimens were assayed for brain natriuretic peptide, D-dimer, matrix metalloproteinase-9, S100β, and a proprietary composite multimarker index (MMX). There were 139 patients in this study, 89 of whom were diagnosed with acute ischemic stroke, 11 with acute cerebral hemorrhage, and 39 with other brain disorders. The MMX value was significantly higher in the patients with acute ischemic stroke in comparison to 57 healthy controls (p <0.001), but there was no significant difference between the MMX value in patients with acute ischemic stroke vs th... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077904 Tue, 19 Oct 2010 04:20:03 +0100 4077904 http://www.medworm.com/index.php?rid=4077903&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947808%26dopt%3DAbstract In conclusion, TNF-α and PAI-1 are important indicators in patients with tuberculous pleural effusions, and measurement of TAT is useful for assessing the severity of inflammation in pleural fluids. PMID: 20947808 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077903 Tue, 19 Oct 2010 04:20:03 +0100 4077903 http://www.medworm.com/index.php?rid=4077902&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947809%26dopt%3DAbstract This report describes two untreated patients in whom monoclonal FLCs were identified in urine despite normal serum FLC κ/λ ratios. Unlike the classical serum electrophoretic patterns in multiple myeloma, both serum samples showed adequate amounts of polyclonal Ig. The most likely explanation is a masking effect by polyclonal FLC on the serum κ/λ ratio when sufficient concentrations of polyclonal FLC exist. These cases illustrate this likely effect and attest to the continued importance of UIFE for initial screening of patients for Bence-Jones protein. PMID: 20947809 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077902 Tue, 19 Oct 2010 04:20:03 +0100 4077902 http://www.medworm.com/index.php?rid=4077901&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947810%26dopt%3DAbstract Authors: Mao L, Wang HD, Wang XL, Qiao L, Yin HX Inflammation plays an important role in the pathogenesis of secondary damage after spinal cord injury (SCI). The present study explored the effect of sulforaphane (SFN), a potent anti-inflammatory extract of cruciferous vegetables, on the expression of two inflammatory mediators, metalloproteinase (MMP)-9 and TNF-α, in a murine model of SCI. Murine spinal cord injury was induced by the application of vascular clips (force of 10 g) to the dura after a three-level T8-T10 laminectomy. The wet/dry weight ratio was used to reflect the percentage of water content of impaired spinal cord tissue at 48 hr after SCI. The mRNA levels of MMP-9 were determined using the reverse-transcriptase polymerase chain reaction (RT-PCR), and protein levels of ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077901 Tue, 19 Oct 2010 04:20:03 +0100 4077901 http://www.medworm.com/index.php?rid=4077900&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947811%26dopt%3DAbstract Authors: Lee S, Yu JK, Park K, Oh EJ, Kim SY, Park YJ We compared the distribution of phylogenetic groups and nine virulence factors among the pathogenic (isolated from blood and urine) and commensal (isolated from feces of healthy individuals) strains of Escherichia coli, and also compared the occurrence of virulence factors according to the production of bla(CTX-M) among the pathogenic strains. A total of 550 non-duplicate E. coli isolates (145 from blood, 200 from urine, 205 from feces) were collected. Phylogenetic grouping and virulence genotyping were done by PCR for all isolates. For pathogenic strains, antimicrobial susceptibility tests and PCR for bla(CTX-M) were performed. The distribution of phylogenetic groups was similar between isolates from blood and urine: B2 (44.8%; 58.... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077900 Tue, 19 Oct 2010 04:20:03 +0100 4077900 http://www.medworm.com/index.php?rid=4077899&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947812%26dopt%3DAbstract We examined the association between copy numbers of SMN and the risk of LMND among Koreans. We genotyped the copy number of SMN1 and SMN2 in 18 patients diagnosed with sporadic LMND and 100 neurologically healthy subjects using the multiplex ligation-dependent probe amplification (MLPA) method. A total of eight SMN1:SMN2 genotypes (1:1, 1:3, 2:0, 2:1, 2:2, 2:3, 3:2, and 2:2/3:1 of exon7/exon8) were found. We found that homozygous deletion of SMN2 was significantly related to LMND (OR 20.7; 95% CI 2.8-150.5; p = 0.003). There was no significant difference in the distribution of the SMN1 copy number between the LMND patients and controls. In contrast to ALS, the risk of which is influenced by various factors other than SMN copy number itself, the association studies in LMND show a consistent... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077899 Tue, 19 Oct 2010 04:20:03 +0100 4077899 http://www.medworm.com/index.php?rid=4077898&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947813%26dopt%3DAbstract Authors: Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity in the lower extremities. Mutations in the atlastin GTPase 1 (ATL1) gene cause approximately 10% of autosomal dominantly inherited HSP. For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic cerebral palsy. Herein we report a heterozygous R239C mutation in the ATL1 gene in a Korean family. The family members exhibited early onset pure spastic paraplegia and had been previously diagnosed with the diplegic form of cerebral palsy. We suggest that spastic paraplegia type 3 (SPG3A) be included in the differential diagnos... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077898 Tue, 19 Oct 2010 04:20:03 +0100 4077898 http://www.medworm.com/index.php?rid=4077897&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947814%26dopt%3DAbstract This study provides useful information for the functional study of hereditary hearing loss caused by tectorial membrane defects. PMID: 20947814 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077897 Tue, 19 Oct 2010 04:20:03 +0100 4077897 http://www.medworm.com/index.php?rid=4077896&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947815%26dopt%3DAbstract Authors: Hajdu SI, Darvishian F PMID: 20947815 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077896 Tue, 19 Oct 2010 04:20:03 +0100 4077896 http://www.medworm.com/index.php?rid=4077895&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20947816%26dopt%3DAbstract Authors: Cannon DJ, Sunderman FW PMID: 20947816 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=4077895 Tue, 19 Oct 2010 04:20:03 +0100 4077895 http://www.medworm.com/index.php?rid=3833808&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689131%26dopt%3DAbstract Authors: Liu J, Brown RE The mammalian target of rapamycin (mTOR) signaling pathway was studied using immunohistochemical stains on paraffin-embedded tumor tissue from two patients with anaplastic thyroid carcinoma (ATC) and on paraffin-embedded normal thyroid tissue from 23 control patients. Immunoreactivities of p-mTOR, p-Akt, p-p70S6K, and PLD1 were observed in both of the ATCs, with nuclear translocation of p-mTOR, p-Akt, and p-p70S6K. Increased expression of Ki-67, Skp2, and cyclin D1, decreased expression of p27(kip1), and increased mitotic index (MI) were noted in the ATCs in comparison with those of normal thyroid tissue. The results provide evidence of (a) constitutive activation of the mTOR pathway, (b) mTORC2 activation, suggested by the nuclear translocation of p-mTOR, and ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833808 Mon, 09 Aug 2010 00:12:03 +0100 3833808 http://www.medworm.com/index.php?rid=3833807&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689132%26dopt%3DAbstract This article reviews recently published data on the diagnosis of ovarian cancer with proteomics, including the major proteomics technologies and promising strategies for biomarker discovery and development. PMID: 20689132 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833807 Mon, 09 Aug 2010 00:12:03 +0100 3833807 http://www.medworm.com/index.php?rid=3833806&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689133%26dopt%3DAbstract Authors: Kim Y, Lim J, Kim M, Kim Y, Lee JW, Han K Since PNH occasionally results in bone marrow failure, it is difficult to differentiate PNH from AA with small numbers of CD(55) (-)CD(59) (-) erythrocytes. We quantified CD55 and CD59 molecules expressed on normal reticulocytes and mature erythrocytes of paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA), and normal individuals in order to determine their usefulness for differentiation between PNH and AA. A total of 56 patients (AA 39 patients, PNH 17 patients) and 10 healthy volunteers were enrolled. Two-color flow cytometric analyses were conducted using thiazole orange, anti-CD55 and CD59 monoclonal antibodies to identify CD(55) (-)CD(59) (-) reticulocytes and mature erythrocytes. Mean fluorescence level of CD(55) (+) ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833806 Mon, 09 Aug 2010 00:12:03 +0100 3833806 http://www.medworm.com/index.php?rid=3833805&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689134%26dopt%3DAbstract Authors: Wang Z, Chen G, Zhu WW, Zhou D Cerebral vasospasm plays a pivotal role in the outcome of patients suffering from subarachnoid hemorrhage (SAH). The mechanisms underlying cerebral vasospasm are complex and interrelated. Previous studies that focused on only one of these mechanisms have proved to be ineffective in clinical practice. Therefore, a therapeutic target is desirable that can interrupt the multi-mechanisms underlying cerebral vasospasm. Nuclear factor-erythroid 2-related factor 2 (Nrf2) has been shown to be a key regulator in reducing oxidative stress, inflammatory damage, and accumulation of toxic metabolites, which are all involved in SAH-induced cerebral vasospasm. However, whether Nrf2 is activated in the cerebral artery after SAH hasn't been studied. In the presen... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833805 Mon, 09 Aug 2010 00:12:03 +0100 3833805 http://www.medworm.com/index.php?rid=3833804&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689135%26dopt%3DAbstract Authors: Xie J, Lv R, Yu L, Huang W Previous studies demonstrated that hydroxyethyl starch (HES) down-regulates the inflammatory response, but the mechanism is controversial. The present study measured the effects of HES130/0.4 on plasma proinflammatory cytokines levels and the Toll-like receptor-4 (TLR4)/nuclear factor-kappa B (NF-kappaB) signaling pathway in lipopolysaccharide (LPS)-treated rats. Endotoxemia was induced in rats by injection of LPS (5 mg/kg, via tail vein) and the rats were infused with different doses of HES130/0.4 (7.5, 15, or 30 ml/kg, via jugular vein). At 2 hr after the injection of LPS, plasma and peripheral monocytes were collected to determine tumor necrosis factor (TNF)-alpha and interleukin (IL)-1beta concentrations (enzyme-linked immunosorbent assay), NF-ka... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833804 Mon, 09 Aug 2010 00:12:03 +0100 3833804 http://www.medworm.com/index.php?rid=3833803&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689136%26dopt%3DAbstract Authors: Moon JR, Jeong SI, Huh J, Lee HJ, Park PW, Kang IS The CoaguChek XS international normalized ratio (INR) assay was compared to INR assay by a standard laboratory method in children with heart disease on anticoagulant therapy. The data comprised 120 pairs of INR values for 42 patients (age <16 yr) who attended a cardiology clinic between 1 May 2007 and 30 January 2008. Parallel INR assays by the CoaguChek XS and the standard method were performed within 1 hr by a single qualified technician and the paired results were evaluated by linear regression and Bland-Altman analysis. The mean difference in the INR values was -0.08 +/- 0.04 units (p = 0.63); the difference between the two results was consistently <0.5 INR units. The slope of the regression line was 0.98 (95% CI: 0.... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833803 Mon, 09 Aug 2010 00:12:03 +0100 3833803 http://www.medworm.com/index.php?rid=3833802&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689137%26dopt%3DAbstract In conclusion, all four media showed good results after the 24 hr readings, but MRSA ID and CHROMagar MRSA media required readings at 48 hr due to increased sensitivity at this time point. PMID: 20689137 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833802 Mon, 09 Aug 2010 00:12:03 +0100 3833802 http://www.medworm.com/index.php?rid=3833801&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689138%26dopt%3DAbstract Authors: Kirkpatrick B, Nguyen L, Kondrikova G, Herberg S, Hill WD Stromal-derived factor 1-alpha (SDF-1alpha, or CXCL12alpha) is a major chemokine that controls adult stem cell trafficking. Little is known about its stability after blood sampling, but this is a crucial issue for clinical studies of this molecule. In a study of six subjects, we found total human plasma SDF-1alpha concentrations to be stable for 120 min when the blood is placed on ice immediately after sampling. PMID: 20689138 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833801 Mon, 09 Aug 2010 00:12:03 +0100 3833801 http://www.medworm.com/index.php?rid=3833800&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689139%26dopt%3DAbstract Authors: Park CH, Park HD, Lee SY, Kim JW, Sohn YB, Park SW, Jin DK Pseudohypoparathyroidism (PHP) comprises a heterogeneous group of endocrine disorders with the common feature of resistance to parathormone (PTH), manifested by hypocalcemia, hyperphosphatemia, and elevation of serum PTH despite normal renal function. Herein, the first Korean cases of PHP type Ia are reported. The two patients (6-yr-old female, 7-yr-old male) had typical signs of Albright hereditary osteodystrophy. Genomic DNA was isolated from their peripheral blood leukocytes and the GNAS gene was amplified by PCR and analysed by bidirectional sequencing including all coding exons. Two GNAS mutations were found: c.94A>T and c.344_345insT. Patient 1 had a nonsense mutation of c.94A>T (p. K32X), which has not bee... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833800 Mon, 09 Aug 2010 00:12:03 +0100 3833800 http://www.medworm.com/index.php?rid=3833799&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689140%26dopt%3DAbstract Authors: Yin DT, Wang L, Sun J, Yin F, Yan Q, Shen RL, Gao JX, He G The fragile histidine triad (FHIT) gene encompasses the most common human fragile site, FRA3B at 3p14.2, a region that is involved in homozygous deletions in a variety of human tumors. FHIT is considered to be a tumor suppressor gene that is frequently inactivated in various types of cancer. To study the role of the FHIT gene in thyroid tumorigenesis, we looked for homozygous deletions or mutations of exons 5 and 8 of the FHIT gene in 65 cases of differentiated thyroid carcinoma (DTC) and their matched non-cancerous epithelium (NCE), using exon-specific PCR amplification and PCR single strand conformation polymorphism (PCR-SSCP) techniques. In DTC, the incidence of homozygous deletion of exon 5 was 30.8% (20/65), and i... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833799 Mon, 09 Aug 2010 00:12:03 +0100 3833799 http://www.medworm.com/index.php?rid=3833798&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689141%26dopt%3DAbstract Authors: Lee SG, Park TS, Lim G, Lee KA, Song J, Choi JR Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37%) and those without (47/322... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833798 Mon, 09 Aug 2010 00:12:03 +0100 3833798 http://www.medworm.com/index.php?rid=3833797&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689142%26dopt%3DAbstract This study expands the spectrum of mutations of the ACTA2 gene by identifying a novel missense mutation. This is the first report of a pathologically- and genetically-confirmed family with TAAD in Korea. PMID: 20689142 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833797 Mon, 09 Aug 2010 00:12:03 +0100 3833797 http://www.medworm.com/index.php?rid=3833796&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689143%26dopt%3DAbstract Authors: Brion M, Allegue C, Gil R, Blanco-Verea A, Carracedo A, Pagannone E, Evangelista A, Di Castro S, Marchitti S, Stanzione R, Volpe M, Rubattu S Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by cardiac hypertrophy caused by mutations in sarcomere protein genes. MYBPC3 mutations are reported as a frequent cause of HCM. We aimed to identify the gene mutation underlying HCM in an Italian patient and his family composed of 13 relatives. Mutation screening of 658 known mutations was performed using a rapid and efficient mutation detection system based on semiautomated MALDI-TOF mass spectrometry using the Sequenom MassArray System and iPLEX Gold genotyping chemistry. Subsequently, direct sequencing of the coding exons and flanking intronic regions was performed... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833796 Mon, 09 Aug 2010 00:12:03 +0100 3833796 http://www.medworm.com/index.php?rid=3833795&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689144%26dopt%3DAbstract This study reveals a novel mutation of the KRIT1 gene related to CCM and multiple spinal CMs. Based on these findings, molecular diagnosis might be beneficial for early diagnosis and treatment of the family members. PMID: 20689144 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833795 Mon, 09 Aug 2010 00:12:03 +0100 3833795 http://www.medworm.com/index.php?rid=3833794&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689145%26dopt%3DAbstract We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without the P arm. Chromosome study of the parents revealed that the t(Y;22) chromosome was derived from the patient's father who was phenotypically normal. Although the Y fragment was transmitted in patrilinear fashion in this case, our patient with intact copies of both X chromosomes and the Y chromosome with a deleted p arm is expected to show normal fertility. However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma. PMID: 2068... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833794 Mon, 09 Aug 2010 00:12:03 +0100 3833794 http://www.medworm.com/index.php?rid=3833793&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689146%26dopt%3DAbstract We report a case of brodifacoum (superwarfarin) intoxication of unknown etiology presenting as hemoperitoneum after fluconazole administration for one week before the onset of symptoms. The initial prothrombin time (PT) and partial thromboplastin time (PTT) were markedly prolonged, although a mixing study with normal plasma showed that the corrected PT and PTT were in the normal range. Vitamin K-dependent coagulation factors (Factors II (5%), VII (8%), IX (4%), and X (6%)), and Protein C (16%) and Protein S (19%) activities were reduced. Although the patient denied ingesting rodenticides or medications other than an antifungal drug, fluconazole, superwarfarin toxicity was suspected; subsequently, his serum brodifacoum level was found to be positive. After administration of fresh frozen pla... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833793 Mon, 09 Aug 2010 00:12:03 +0100 3833793 http://www.medworm.com/index.php?rid=3833792&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20689147%26dopt%3DAbstract Authors: Hajdu SI, He G PMID: 20689147 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3833792 Mon, 09 Aug 2010 00:12:03 +0100 3833792 http://www.medworm.com/index.php?rid=3515873&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421621%26dopt%3DAbstract Authors: Gilbert-Barness E Crucial morphogenetic processes during the blastogenesis period, which extends throughout the first 4 wk of development, from fertilization until the end of the gastrulation stage (days 27 to 28 postconception), can be altered and result in structural abnormalities, including patterns of multiple congenital anomalies (MCAs) arising from developmental field defects. Severe damage may cause death of the product of conception or, because of the pluripotential nature of the cells, the damage may be compensated allowing development to continue in a normal fashion. Most investigators believe that the all-or-none rule applies to the first 2 wk of development. Because the fetus is less susceptible to morphologic alterations when the developmental process of the major... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515873 Thu, 29 Apr 2010 21:38:03 +0100 3515873 http://www.medworm.com/index.php?rid=3515872&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421622%26dopt%3DAbstract In this study, superior mesenteric artery occlusion (SMAO) was employed as a clinically relevant model of ischemia/reperfusion. The superior mesenteric artery of rats was clamped for one hr and and followed by reperfusion with P188 or saline for five hr, after which tissues were harvested for expression microarray, histologic, enzymatic, and western blot analyses. The results demonstrated that P188 significantly inhibits the entire spectrum of inflammatory, coagulation, and apoptotic responses produced by SMAO. This supports the existence of a novel mechanism that recognizes two types of adhesive interactions. The first, specific receptor-ligand adhesion, governs interactions between cells and molecules and is unaffected by P188. P188 affects only the second type, hydrophobic adhesion, whi... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515872 Thu, 29 Apr 2010 21:38:03 +0100 3515872 http://www.medworm.com/index.php?rid=3515871&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421623%26dopt%3DAbstract This study provides evidence of stemness in FLHCC and discusses the implications of stemness in the histogenesis of FLHCC vs conventional, well-differentiated HCC. PMID: 20421623 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515871 Thu, 29 Apr 2010 21:38:03 +0100 3515871 http://www.medworm.com/index.php?rid=3515870&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421624%26dopt%3DAbstract This study demonstrates that green tea extract has immunoregulatory effects on human IgE responses in vitro. PMID: 20421624 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515870 Thu, 29 Apr 2010 21:38:03 +0100 3515870 http://www.medworm.com/index.php?rid=3515869&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421625%26dopt%3DAbstract This study investigated the association between hypophosphatemia and weaning failure in patients in two medical intensive care units (ICU). The study was conducted in a prospectively developed cohort of 66 patients being treated with ventilatory support and in whom 193 weaning trials were attempted. Ultimately, all 66 subjects were successfully weaned. A cross-sectional analysis was conducted on serum phosphorus levels and success or failure to wean the patients from ventilators. At the time of the successful weaning attempts (n = 66), the subjects' serum phosphorus concentrations (mean +/- SD) were 1.18 +/- 0.27 mmol/L, whereas at all failed weaning attempts (n = 127) serum phosphorus concentrations averaged 1.06 +/- 0.31 mmol/L (p = 0.008). Subjects with phosphorus concentrations below t... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515869 Thu, 29 Apr 2010 21:38:03 +0100 3515869 http://www.medworm.com/index.php?rid=3515868&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421626%26dopt%3DAbstract This study investigated whether the single nucleotide polymorphisms (SNPs) and haplotypes of interleukin-10 (IL-10) were associated with cachexia in 223 Chinese patients with gastric cancer diagnosed by histopathological examination. Genomic DNA was extracted from peripheral blood leukocytes. The SNPs at positions -1082A/G, -819T/C, and -592A/C in the IL-10 gene promoter were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No significant differences were found in the allele and genotype frequencies of -592A/C in patients with or without cachexia. Increased frequency of the -1082G allele was found in patients with cachexia (OR = 1.83, 95% CI, 1.00-3.33, p = 0.049). In a logistic regression analysis adjusted for body weight, carcinoma location, a... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515868 Thu, 29 Apr 2010 21:38:03 +0100 3515868 http://www.medworm.com/index.php?rid=3515867&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421627%26dopt%3DAbstract In this study, we provide the first haplotypic molecular evidence for a founder effect of DM1 mutations in Korea, and reinforce the hypothesis that out-of-Africa DM1 alleles were derived by expansion from a pool of non-DM1 alleles with haplotype A. PMID: 20421627 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515867 Thu, 29 Apr 2010 21:38:03 +0100 3515867 http://www.medworm.com/index.php?rid=3515866&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421628%26dopt%3DAbstract Authors: Lee SY, Park KG, Lee GD, Park JJ, Park YJ The performance of the recently developed Seeplex VRE detection kit was compared with chromID VRE agar and the conventional blood agar plate with vancomycin disk (BAP-VA) for detection of vancomycin-resistant enterococci (VRE) from 180 rectal swab specimens. After 18 hr enrichment in enterococcosel broth (EB), the sensitivity and specificity for detection of vancomycin-resistant E. faecium were as follows: Seeplex VRE detection kit, 92.5% and 98.9%; chromID VRE agar, 92.5% and 97.8%; BAP-VA, 77.5% and 70.3%, respectively. The reporting times averaged 2, 3.4, and 3.6 days, respectively. The Seeplex VRE detection kit and chromID VRE agar were comparable and were superior to BAP-VA. Unexpectedly, 15.7% of VRE were vanA-positive Enterococc... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515866 Thu, 29 Apr 2010 21:38:03 +0100 3515866 http://www.medworm.com/index.php?rid=3515865&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421629%26dopt%3DAbstract Authors: Jung S, Yu JK, Shin SH, Park KG, Jekarl DW, Han K, Park YJ Amikacin (AN) is the most active aminoglycoside for the treatment of infections caused by Acinetobacter baumannii. The VITEK 2 automated system showed false susceptibility to AN for the A. baumannii isolate harboring armA. This phenomenon was not observed in the Serratia marcescens isolate harboring armA, but was detected in its transconjugant E. coli J53. PMID: 20421629 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515865 Thu, 29 Apr 2010 21:38:03 +0100 3515865 http://www.medworm.com/index.php?rid=3515864&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421630%26dopt%3DAbstract We describe a case of relapsed Plasmodium falciparum malaria detected by rapid diagnostic testing (RDT) 19 days before microscopic- or PCR-positive conversion. Three malaria tests gave discrepant results; the malaria smear and polymerase chain reaction (PCR) tests were both negative, while malaria RDT with a commercial kit to detect malarial antigens, including histidine-rich protein 2 (HRP-2), was repeatedly positive for P. falciparum. About 3 weeks after the onset of symptoms, the patient was hospitalized because of a high fever. Blood and urine cultures and malaria smears were all negative, and a subsequent bone marrow study was performed to evaluate fever of unknown origin. Unexpectedly, 19 days after the positive RDT result, malaria parasites were detected by microscopy in the bone ma... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515864 Thu, 29 Apr 2010 21:38:03 +0100 3515864 http://www.medworm.com/index.php?rid=3515863&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421631%26dopt%3DAbstract Authors: Hajdu SI, Vadmal MS PMID: 20421631 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515863 Thu, 29 Apr 2010 21:38:03 +0100 3515863 http://www.medworm.com/index.php?rid=3515862&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20421632%26dopt%3DAbstract Authors: Macdonald RL PMID: 20421632 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3515862 Thu, 29 Apr 2010 21:38:03 +0100 3515862 http://www.medworm.com/index.php?rid=3238489&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124323%26dopt%3DAbstract Authors: Pandolfi F, Cianci R, Cammarota G, Pagliari D, Landolfi R, Conti P, Theoharides TC In recent years, the field of primary immunodeficienciency diseases (PID) has experienced remarkable progress with the identification of a number of new genes associated with specific diseases. Yet the diagnosis of PID remains difficult. In fact, this field requires continuous updating because once a novel molecule related to the immune function is discovered, the corresponding PID will soon be described. Since comprehensive reviews on the classification of PID are available, we concentrate here on reviewing some controversial and new issues, mainly those related to the role of T-cells and innate immunity. We will consider common variable immunodeficiency as an example of a PID where several imm... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238489 Thu, 04 Feb 2010 15:58:03 +0100 3238489 http://www.medworm.com/index.php?rid=3238488&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124324%26dopt%3DAbstract In conclusion, serum homocysteine and Lp(a) concentrations are often increased in FMF patients during attack-free periods. The elevated homocysteine and Lp(a) levels, which are markers of sub-clinical inflammation, may be mediators of atherosclerotic disease in FMF patients. PMID: 20124324 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238488 Thu, 04 Feb 2010 15:58:03 +0100 3238488 http://www.medworm.com/index.php?rid=3238487&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124325%26dopt%3DAbstract Authors: Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, yet many patients have either one mutation, or no mutation. We investigated whether the mutation detection rate is associated with any biochemical characteristics of WD. In a study of 71 patients, we used PCR-sequencing to screen for ATP7B mutations in 7 exons (exons 8, 10, 11, 14, 15, 16, and 18) covering 95% of known mutations in Korean patients with WD. We also investigated serum concentrations of various biochemical analytes. Data were analyzed by linear association test and one-way ANOVA. Based on the number of detected ATP7B mutations, a significant difference in serum ceruloplasmin concentration was found among the 3 groups (p &... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238487 Thu, 04 Feb 2010 15:58:03 +0100 3238487 http://www.medworm.com/index.php?rid=3238486&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124326%26dopt%3DAbstract Authors: Park HD, Ki CS, Kim JW, Kim WT, Kim JK Cornelia de Lange syndrome (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, growth delay, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or cardiac abnormalities. Although the NIPBL gene has been identified as a causative gene for CdLS, there has hitherto been no genetically confirmed case of CdLS in Korea. Herein, we report a clinical and genetic analysis of three Korean patients with clinical features consistent with CdLS. A male neonate had distinctive facial features, malformations of the upper extremities, genital abnormalities, and bilateral hearing loss, while a 6-yr-old boy and a 10-yr-old girl had distinctive facial features, sh... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238486 Thu, 04 Feb 2010 15:58:03 +0100 3238486 http://www.medworm.com/index.php?rid=3238485&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124327%26dopt%3DAbstract Authors: Rice KM, Walker EM, Kakarla SK, Paturi S, Wu M, Narula S, Blough ER The factors that regulate vascular mechanotransduction and how this process may be altered with aging are poorly understood and have not been widely studied. Recent data suggest that increased tissue loading can result in the release of prostaglandin F2 alpha (PGF2alpha) and other reports indicate that aging diminishes the ability of the aged aorta to activate mitogen activated protein kinase (MAPK) signaling in response to increased loading. Using ex vivo incubations, here we investigate whether aging affects the ability of the aorta to induce phosphorylation of extracellular signal-regulated kinase 1/2 (ERK(1/2)-MAPK), p38-MAPK, and Jun N-terminal kinase (JNK-MAPK) activation following stimulation with a PGF... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238485 Thu, 04 Feb 2010 15:58:03 +0100 3238485 http://www.medworm.com/index.php?rid=3238484&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124328%26dopt%3DAbstract In conclusion, simvastatin administration attenuates cerebral vasospasm and alleviates microthrombosis in the late phase of SAH in this prechiasmatic blood injection model. PMID: 20124328 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238484 Thu, 04 Feb 2010 15:58:03 +0100 3238484 http://www.medworm.com/index.php?rid=3238483&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124329%26dopt%3DAbstract This study was performed to determine the mechanisms for acquiring carbapenem resistance in six clinical isolates of Acinetobacter baumannii. All isolates showed similar SmaI-macrorestriction patterns with less than 3 band differences by PFGE. The isolates showed a high level resistance (>32 mg/L) to both imipenem and meropenem by Etest. Phe-Arg-beta-naphthylamide lowered the MICs of carbapenems. Real-time PCR experiments showed that expression levels of the adeB gene in the six A. baumannii isolates were 10- to 40-times higher than those of imipenem-susceptible strains. Direct sequencing of PCR products showed that all isolates carried the bla(OXA-23) gene, which was preceded by ISAba1. The bla(OXA-23) probe hybridized with approximately 500-kb I-CeuI chromosomal fragments, but not wit... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238483 Thu, 04 Feb 2010 15:58:03 +0100 3238483 http://www.medworm.com/index.php?rid=3238482&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124330%26dopt%3DAbstract This study compared the assay results of HBV markers obtained with two automated immunoassay systems in serum samples with concomitant HBV antigens and antibodies. Eighty-nine samples of concomitant HBsAg and anti-HBs and 74 samples of concomitant HBeAg and anti-HBe were analyzed by the Abbott Architect i2000 and the Roche Elecsys 2010 immunoassay systems. The overall concordance rates of the Architect and Elecsys results were 78.6% for samples with concomitant HBsAg and anti-HBs and 77% for samples with concomitant HBeAg and anti-HBe. The data show that substantial differences exist between the results obtained by these two systems, especially in determining anti-HBs and HBeAg at low concentrations. PMID: 20124330 [PubMed - in process] (Source: Annals of Clinical and Laboratory Scienc... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238482 Thu, 04 Feb 2010 15:58:03 +0100 3238482 http://www.medworm.com/index.php?rid=3238481&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124331%26dopt%3DAbstract Authors: Park J, Chun S, Kim JQ, Song J, Kim JJ, Min WK It is recommended that clinical laboratories keep the bias of serum total cholesterol analysis at </=3.0% compared to a reference method. In Korea, national cholesterol proficiency testing has long been available, but there has been little information about the magnitude of analytical bias. The authors calculated the bias of the peer group mean for Korea's national cholesterol proficiency test through an indirect approach that overcomes the potential matrix effect of proficiency test materials. One laboratory was selected among the proficiency test participants to represent Korean laboratories. Total cholesterol levels of six fresh serums spanning a wide range of concentrations were measured by the representative laboratory and... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238481 Thu, 04 Feb 2010 15:58:03 +0100 3238481 http://www.medworm.com/index.php?rid=3238480&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124332%26dopt%3DAbstract This study examined the effect of storage temperature on the protein profile of human serum. Serum samples were stored for >/=7 days at -80 degrees C, -20 degrees C, 4 degrees C, and room temperature prior to proteomic analysis. Serum protein fractionations by SDS-PAGE, including high and low molecular weight (MW) proteins, showed that several bands had different intensities after storage at higher temperatures. Fractionations by 2-dimensional gel electrophoresis (2-DE) indicated that approximately 60 protein spots had changed significantly after storage at higher temperatures. These proteins included C3/C4, alpha2-macroglobulin, and alpha1B glycoprotein, based on identification by MS and MS/MS. The profile of the low MW serum proteins, analyzed using SELDI ProteinChip Arrays (IMAC3 and... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238480 Thu, 04 Feb 2010 15:58:03 +0100 3238480 http://www.medworm.com/index.php?rid=3238479&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124333%26dopt%3DAbstract Authors: Moody P, Bui MM, Vrionis F, Setzer M, Rojiani AM Primary synovial chondromatosis is an uncommon, benign entity involving the synovial lining of larger joints. In this metaplastic process, islands of chondrocytes are clustered throughout the synovium, forming nodules that jut into the joint cavity. Clinical manifestations include pain, swelling, and decreased range of motion of associated extremities. Synovial chondromatosis may be confused with other degenerative joint diseases as well as chondrosarcoma. The occurrence of synovial chondromatosis in the spine is rare. Ten cases of this spinal variant have previously been published and this report represents the eleventh case. Here we briefly review the literature and discuss the histopathologic pitfalls and differential diagnos... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238479 Thu, 04 Feb 2010 15:58:03 +0100 3238479 http://www.medworm.com/index.php?rid=3238478&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124334%26dopt%3DAbstract We report a testicular lymphoma consistent with diffuse large B-cell lymphoma (DLBCL) in an AIDS patient and we review the literature on primary testicular lymphoma in AIDS patients. PMID: 20124334 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238478 Thu, 04 Feb 2010 15:58:03 +0100 3238478 http://www.medworm.com/index.php?rid=3238477&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124335%26dopt%3DAbstract Authors: Jang JH, Yoo EH, Kim HJ, Kim DH, Jung CW, Kim SH A 57-yr-old woman was diagnosed with acute myeloid leukemia (AML) with maturation, based on morphological and cytochemical/immunophenotypic findings on bone marrow studies. Conventional cytogenetic analysis using bone marrow cells revealed terminal deletion of the short arm of an X chromosome as 46,X,del(X)(p21)[8]/46,XX[12]. On the other hand, fluorescence in situ hybridization (FISH) for the RUNX1/RUNX1T1 (formerly AML1/ETO) rearrangement revealed 86% interphase nuclei with one fusion signal, which was found to be on the long arm of chromosome 8 on metaphase FISH, indicating the RUNX1/RUNX1T1 rearrangement by cryptic insertion of the RUNX1 gene. Molecular genetic study by reverse transcriptase polymerase chain reaction (RT-PCR... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238477 Thu, 04 Feb 2010 15:58:03 +0100 3238477 http://www.medworm.com/index.php?rid=3238476&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124336%26dopt%3DAbstract Authors: Picarelli A, Libanori V, De Nitto D, Saponara A, Di Tola M, Donato G Anti-endomysial and anti-transglutaminase antibodies can be produced in vitro by the intestinal mucosa of celiac disease (CD) patients in clinical remission, when the culture is performed in the presence of gliadin peptides. Our aim was to use this organ culture system as a means to detect the pathognomonic antibodies of celiac disease (CD) in the culture supernatants. Organ culture was performed in the presence of three different activators to evaluate which one induced the strongest antibody response in intestinal mucosa from patients in clinical remission of CD. Our data confirm the high efficiency of synthetic peptide 31-43 as a specific immunological activator in CD and demonstrate its capability to stim... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238476 Thu, 04 Feb 2010 15:58:03 +0100 3238476 http://www.medworm.com/index.php?rid=3238475&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20124337%26dopt%3DAbstract Authors: Hajdu SI PMID: 20124337 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=3238475 Thu, 04 Feb 2010 15:58:03 +0100 3238475 http://www.medworm.com/index.php?rid=2955112&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880759%26dopt%3DAbstract Authors: Chai H, Brown RE The concept "field effect in cancer" originated in 1953 from the histopathological observations of Slaughter and colleagues [1] regarding the occurrence of multiple primary oral squamous cell carcinomas and their local recurrences. The development of modern molecular technologies has extended the field effect concept by exploring the molecular abnormalities in tissues that appear histologically normal. To date, such field effect biomarkers have been reported in several sites and organs, eg, head and neck, colon and rectum, prostate, breast, lung, esophagus, stomach, and skin. Two popular hypotheses have been proposed. One hypothesis implicates genetic alterations that occur in a stepwise fashion (initiation, promotion, and progression); a clone gains growth ad... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955112 Tue, 03 Nov 2009 20:26:02 +0100 2955112 http://www.medworm.com/index.php?rid=2955111&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880760%26dopt%3DAbstract This study shows the dearth of physician blood donors and a strong cohort of institution-affiliated repeat donors. Physicians represent a potential, stable, and sustainable donor pool; further studies are needed to establish physician recruitment programs. PMID: 19880760 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955111 Tue, 03 Nov 2009 20:26:02 +0100 2955111 http://www.medworm.com/index.php?rid=2955110&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880761%26dopt%3DAbstract Authors: Malysz J, Crisan D Activating JAK2 V617F mutation is present in many patients with chronic myeloproliferative neoplasms. We evaluated, retrospectively, clinical and laboratory data from 70 patients with BCR-ABL1 negative, JAK2 positive, chronic myeloproliferative disease. Quantity of the JAK2 mutant allele was tested for correlation with the clinical presentation, type of chronic myeloproliferative disease, hemoglobin level, white blood cell and platelet counts, spleen size, and/or cardiovascular complications. RealTime-PCR was used for amplification of DNA from marrow or peripheral blood. Polycythemia vera was more frequently diagnosed among patients with >or=50% mutational load than among those with <50% mutational load (71% vs 25%; p = 0.003). Patients with >or=50%... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955110 Tue, 03 Nov 2009 20:26:02 +0100 2955110 http://www.medworm.com/index.php?rid=2955109&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880762%26dopt%3DAbstract Authors: Deng L, Boujdir M, Tremontano A, Pincus MR, El-Sherif N PNC-2 is a peptide corresponding to an effector domain (residues 96-110) of ras-p21 that strongly and specifically blocks mitogenic signal transduction by oncogenic but not activated, normally-expressed wild-type ras-p21 protein. Since myocardial hypertrophy can be induced both by oncogenic and overexpressed wild-type ras-p21, we investigated whether PNC-2 can block norepinephrine (NE)-induced, ras-dependent myocardial hypertrophy in cardiac myocytes. Since PNC-2 blocks oncogenic ras-p21-induced activation of JNK and ERK, we further determined whether this peptide blocks activation of these kinases in NE-treated myocytes. Using cultured neonatal rat ventricular myocytes (NRVM), we found that NE alone significantly increas... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955109 Tue, 03 Nov 2009 20:26:02 +0100 2955109 http://www.medworm.com/index.php?rid=2955108&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880763%26dopt%3DAbstract Authors: Lee YK, Kim HS, Kang HJ Transcobalamin-bound vitamin B(12), or holotranscobalamin (HoloTC), a biologically active form, is believed to be a sensitive marker of vitamin B(12) deficiency. We investigated the prevalence of vitamin B(12) deficiency in gastrectomized patients using HoloTC and total vitamin B(12) to determine the diagnostic utility of HoloTC. We enrolled 128 gastrectomized patients and measured serum HoloTC, total vitamin B(12), homocysteine (Hcy), and complete blood count (CBC). HoloTC values were also obtained from 100 healthy controls. The precision of HoloTC measurement was good and the normal range of HoloTC was set at >or=42.48 pmol/L. Among the 128 gastrectomized subjects, HoloTC was low (<42.48 pmol/L) in 32 patients (25.0%) and total vitamin B(12) was... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955108 Tue, 03 Nov 2009 20:26:02 +0100 2955108 http://www.medworm.com/index.php?rid=2955107&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880764%26dopt%3DAbstract Authors: Zappacosta R, Caraceni D, Stura S, Zappacosta B, Rosini S Although gastrointestinal stromal tumors (GISTs) are uncommon, they represent the most frequent mesenchymal neoplasms of the gastrointestinal tract. During recent years, considerable information has been published about the pathogenesis, molecular biology, histological criteria, surgery, and adjuvant pharmacological treatment of GISTs, but there have been few reports about the cytologic diagnosis of GISTs, particularly in effusions; in such specimens these neoplasms cause a wide range of potential pitfalls. In this case report, we show that by combining morphological and immunocytochemical studies on thin layer slide preparations, the cytologic diagnosis of GISTs can be both accurate and efficient. PMID: 19880764 [P... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955107 Tue, 03 Nov 2009 20:26:02 +0100 2955107 http://www.medworm.com/index.php?rid=2955106&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880765%26dopt%3DAbstract Authors: Chandrasena LG, Peiris H, Waikar HD A prospective study was performed to monitor the postoperative changes in biochemical markers associated with reperfusion injury following (i) cardiopulmonary bypass (CPB) with aortic cross-clamping and cardioplagia (CABG); (ii) CPB with a tissue stabilizing device (SUP.CPB); or (iii) surgery on beating heart (off-pump CABG or OPCABG). Of the 48 patients, 16 were subjected to CABG, 16 to SUP.CPB, and 16 to OPCABG. Arterial and venous blood samples drawn 10 min preoperatively and 0.2, 4, 24, and 48 hr after surgery were assayed for plasma lactate, total calcium, and ionized calcium and erythrocyte glutathione peroxidase (GPX) and superoxide dismutase (SOD). Results revealed that ionized calcium, SOD, and GPX levels of all patients increased a... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955106 Tue, 03 Nov 2009 20:26:02 +0100 2955106 http://www.medworm.com/index.php?rid=2955105&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880766%26dopt%3DAbstract This study tested if acetaminophen, N-methyl-D-glucamine dithiocarbamate (NMGDTC), deferoxamine, and combinations of these agents reduce excess iron content, prevent iron-induced pathology, reduce cardiac arrhythmias, and reduce mortality in iron-overloaded gerbils. Eight groups of 16 gerbils received iron dextran injections (ferric hydroxide dextran complex, 120 mg/kg, ip) or saline solution (controls) twice/wk for 8 wk. The 8 groups were treated every Monday, Wednesday, and Friday with one of the following: saline control, acetaminophen, 150 mg/kg, ip), acetaminophen (150 mg/kg, po), deferoxamine, 83 mg/kg, ip), NMGDTC (200 mg/kg, ip), or combinations of acetaminophen (75 mg/kg) with deferoxamine (42 mg/kg, each ip, separately) or acetaminophen (75 mg/kg) with NMGDTC (100 mg/kg, each ip,... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955105 Tue, 03 Nov 2009 20:26:02 +0100 2955105 http://www.medworm.com/index.php?rid=2955104&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880767%26dopt%3DAbstract This study investigated in rabbits whether a high methionine (HM) diet influences oxidative stress parameters in serum, apo-B containing lipoproteins (LDL+VLDL), heart, and aorta. Rabbits received a normal commercial chow supplemented with 2% L-methionine (w/w) for 6 mo (approximately 1 g/kg body wt/day). Serum homocysteine (HCys), malondialdehyde (MDA), diene conjugate (DC), and cholesterol levels were found to be increased, but protein carbonyl (PC) and triglyceride levels remained unchanged in the HM group as compared to controls. Cholesterol, endogenous DC, and copper-induced MDA levels were significantly higher in the LDL+VLDL fraction of plasma lipoproteins in the HM group. MDA and DC levels were found to be increased in homogenates of heart and aorta in the HM group. The HM diet cau... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955104 Tue, 03 Nov 2009 20:26:02 +0100 2955104 http://www.medworm.com/index.php?rid=2955103&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880768%26dopt%3DAbstract Authors: Kim SJ, Park TS, Lee ST, Song J, Suh B, Kim SH, Jang SJ, Lee CH, Choi JR Therapy-related myelodysplastic syndrome and acute leukemia after treatment with temozolomide have rarely been described in the literature. Only 10 cases in association with temozolomide have been documented. The cases included anaplastic astrocytoma (4 cases), anaplastic oligodendroglioma (2 cases), low grade astrocytoma (2 cases), low grade oligodendroglioma (1 case), and one case of secondary Philadelphia-positive acute lymphoblastic leukemia in a patient with glioblastoma multiforme. Here we report a novel case of therapy-related myelodysplastic syndrome/acute myeloid leukemia associated with der(1;7)(q10;p10) in a glioblastoma multiforme patient treated with temozolomide. Results of bone marrow morph... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955103 Tue, 03 Nov 2009 20:26:02 +0100 2955103 http://www.medworm.com/index.php?rid=2955102&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880769%26dopt%3DAbstract Authors: Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS Mitochondrial trifunctional protein (MTP) is a heterocomplex composed of 4 alpha-subunits containing LCEH (long-chain 2,3-enoyl-CoA hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and 4 beta-subunits that harbor LCKT (long-chain 3-ketoacyl-CoA thiolase) activity. MTP deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile cardiomyopathy to mild chronic progressive polyneuropathy. Here, we report the case of a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure. A newborn screening test and plasma acylcarnitine profile analysis by tandem mass spectrometry showed an increase of 3-hydroxy speci... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955102 Tue, 03 Nov 2009 20:26:02 +0100 2955102 http://www.medworm.com/index.php?rid=2955101&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880770%26dopt%3DAbstract Authors: de Pádua RA, de Lima Scodro RB, Ghiraldi LD, Siqueira VL, Yamashita YK, Helbel C, Cardoso RF This work describes a case of Haemophilus influenzae serotype a meningitis in Brazil, after almost a decade since the introduction of Haemophilus influenzae serotype b conjugate vaccine. Uncertainty about the replacement of H. influenzae serotypes as a cause of invasive diseases justifies continuous surveillance, coupled with investigations of carriage rates and requirements of chemoprophylaxis in contact persons. PMID: 19880770 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955101 Tue, 03 Nov 2009 20:26:02 +0100 2955101 http://www.medworm.com/index.php?rid=2955100&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880771%26dopt%3DAbstract We report the identification of Histoplasma capsulatum var. capsulatum from whole blood in a renal transplant patient with disseminated histoplasmosis using colorimetric microtiter-plate PCR. This modality demonstrated utility in reaching a definitive diagnosis in a timely manner. Blood fungal cultures in this case remained negative, suggesting that molecular assays may facilitate the laboratory diagnosis of disseminated histoplasmosis. PMID: 19880771 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955100 Tue, 03 Nov 2009 20:26:02 +0100 2955100 http://www.medworm.com/index.php?rid=2955099&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19880772%26dopt%3DAbstract Authors: Hajdu SI, Tang P PMID: 19880772 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2955099 Tue, 03 Nov 2009 20:26:02 +0100 2955099 http://www.medworm.com/index.php?rid=2692234&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667406%26dopt%3DAbstract Authors: McCully KS This review considers recent advances in the chemical pathology of homocysteine in atherogenesis, oxidative metabolism, and carcinogenesis. Homocysteine is a potent excitatory neurotransmitter that binds to the N-methyl-D-aspartate (NMDA) receptor and leads to oxidative stress, cytoplasmic calcium influx, cellular apoptosis, and endothelial dysfunction. According to the adsorption-induction theory, cytoplasmic calcium influx leads to depletion of cellular adenosine triphosphate (ATP) by reaction with cytoplasmic phosphate, leading to calcium apatite deposition. Oxidative stress is caused by failure of ATP synthesis and accumulation of reactive oxygen radicals, theoretically because of inhibition of thioretinaco ozonide function within mitochondria and endoplasmic re... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692234 Wed, 12 Aug 2009 19:02:03 +0100 2692234 http://www.medworm.com/index.php?rid=2692233&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667407%26dopt%3DAbstract This study was conducted to evaluate the analytical performance of a new colorimetric assay for plasma homocysteine (Hcy) and to determine the influence of the method used on the frequency of hyperhomocysteinemia and on the association between Hcy and biological parameters in diabetic patients. Plasma Hcy was measured in 160 diabetic patients by high performance liquid chromatography (HPLC) in parallel with an automated colorimetric assay (DiaSys Diagnostic Systems GmbH) using the Olympus AU640 and Abbott C8000 analyzers. Plasma glucose, creatinine, folates, vitamin B(12), high-sensitivity C-reactive protein (hs-CRP), and blood hemoglobin A1c (HbA1c) concentrations were measured by routine methods. The Hcy concentrations obtained with the HPLC (x) and colorimetric methods (y) were highly c... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692233 Wed, 12 Aug 2009 19:02:03 +0100 2692233 http://www.medworm.com/index.php?rid=2692232&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667408%26dopt%3DAbstract Authors: Lee JY, Prineas RJ, Eaton JW Individuals genetically susceptible to hypertension may have preexisting membrane defects influencing cell sodium permeability. Fourteen Minnesotan families of Northern European descent were selected as having one or both progenitors with either high (HP) or low (LP) erythrocyte sodium permeability. We earlier found that over one-half of the (22)Na(+) influx into HP erythrocytes can be inhibited by micromolar amounts of furosemide, which has no apparent effect on LP erythrocytes. In these families, we find a significant midpoint parent/offspring correlation in the furosemide-sensitive component of erythrocyte (22)Na(+) flux rates (p <0.001). The relationship between parents and children in this metric trait is most consistent with a single locus... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692232 Wed, 12 Aug 2009 19:02:03 +0100 2692232 http://www.medworm.com/index.php?rid=2692231&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667409%26dopt%3DAbstract Authors: Karaczyn AA, Cheng RY, Buzard GS, Hartley J, Esposito D, Kasprzak KS Nickel(II), capable of transforming cells and causing tumors in humans and animals, has been previously shown by us to mediate hydrolytic truncation of histone H2A's C-terminal tail by 8 amino acids in both cell-free and cell culture systems. Since H2A's C-tail is involved in maintaining chromatin structure, such truncation might alter this structure and affect gene expression. To test the latter possibility, we transfected cultured T-REx 293 human embryonic kidney cells with plasmids expressing either wild type (wt) or truncated (q) histone H2A proteins, which were either untagged or N-terminally tagged with fluorescent proteins. Each histone variant was found to be incorporated into chromatin at 24 and 48 h... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692231 Wed, 12 Aug 2009 19:02:03 +0100 2692231 http://www.medworm.com/index.php?rid=2692230&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667410%26dopt%3DAbstract Authors: Wu PP, Jin YL, Shang YF, Jin Z, Wu P, Huang PL DLC1 (deleted in liver cancer-1) is a new candidate tumor suppressor gene, which is inactive in various types of human cancers including colon cancer. To study the function of DLC1, we constructed a pcDNA3.1 vector containing the DLC1 gene and transfected it into HT29 colon cancer cells that were deficient in DLC1 expression. The restoration of DLC1 expression in HT29 cells significantly inhibited cell proliferation and migration. Flow cytometry showed that DLC1 transfection into HT29 cells induced apoptosis and that the cell cycle was arrested at S-phase. Additionally, cyclinD1 mRNA and protein expression were down-regulated while p21 expression was increased in pcDNA3.1-DLC1-HT29 cells compared to wild HT29 cells. These results ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692230 Wed, 12 Aug 2009 19:02:03 +0100 2692230 http://www.medworm.com/index.php?rid=2692229&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667411%26dopt%3DAbstract This study analyzes the interobserver variability in interpreting atypia on breast core needle biopsies and in each category of atypia calculates the upgrade risk of carcinoma in the subsequent surgical excision. We identified 51 cases of atypia on breast core needle biopsies performed at our institution from January 2003 to August 2006. The atypia was classified into 4 categories: atypical ductal hyperplasia (ADH), atypical lobular hyperplasia (ALH), flat epithelial atypia (FEA), and atypia of undetermined significance (AUS). After a tutorial session, these cases were independently reviewed by four pathologists, whose overall multi-rater kappa value for agreement on different categories of atypia was 0.79 (95% CI, 0.69-0.89), which is within the substantial agreement range. The upgrade ri... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692229 Wed, 12 Aug 2009 19:02:03 +0100 2692229 http://www.medworm.com/index.php?rid=2692228&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667412%26dopt%3DAbstract We report 5 cases of adrenocortical neoplasms in young children and review their clinical presentations, pathology, and follow-up data. Pathologic evaluations included histology and immunostains with p53 and Ki-67. The patients were 3 girls and 2 boys, 13-28 mo of age. The patients all presented with virilization and other hormone-related symptoms for an average duration of 6 mo. Serum testosterone levels were elevated in 3 cases. Imaging studies revealed neoplasms in the left adrenal gland in 3 cases and the right adrenal gland in 2 cases. No evidence of disease was identified at any other site of the body. The tumors were grossly confined to the adrenal glands and ranged in diameter from 3 to 6 cm (mean 4.3 cm). Microscopically, the tumors had histological and immunophenotypic features c... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692228 Wed, 12 Aug 2009 19:02:03 +0100 2692228 http://www.medworm.com/index.php?rid=2692227&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667413%26dopt%3DAbstract This study demonstrates that flow cytometric detection of PAIg combined with ROC curve analysis is a convenient, sensitive, and specific test, compared to previous methods, and it is useful for the differential diagnosis of thrombocytopenic patients. PMID: 19667413 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692227 Wed, 12 Aug 2009 19:02:03 +0100 2692227 http://www.medworm.com/index.php?rid=2692226&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667414%26dopt%3DAbstract The objective of this study was to identify possible risk factors associated with a lack of response to aspirin and clopidogrel treatments in patients with coronary or cerebral ischemic artery disease. A point-of-care analyzer, VerifyNow (Accumetrics, San Diego, CA), was used to measure adenosine-5-diphosphate and platelet P2YI2 receptor blockage to investigate the responses of a group of 197 patients to aspirin and/ or clopidogrel therapies (aspirin therapy, 178; clopidogrel therapy, 139; both drugs, 144). Of these 197 patients, 135 (68.5%) had coronary artery disease and 72 (31.5%) had ischemic cerebrovascular disease. Aspirin resistance was defined as an ARU (aspirin reaction units) > or =550, and clopidogrel resistance was defined as platelet inhibition <20%. Twenty-five of 178 a... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692226 Wed, 12 Aug 2009 19:02:03 +0100 2692226 http://www.medworm.com/index.php?rid=2692225&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667415%26dopt%3DAbstract We report a case of a primitive neuroectodermal tumor (PNET) arising in the cerebellum and pons 7 yr after intracranial radiation and chemotherapy for leukemia involving the CNS. This case suggests a possible link between radiation, chemotherapy, and the formation of these tumors, with a potential new pathogenetic role for somatic inactivation of the protooncogene RET. PMID: 19667415 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692225 Wed, 12 Aug 2009 19:02:03 +0100 2692225 http://www.medworm.com/index.php?rid=2692224&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667416%26dopt%3DAbstract In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea. PMID: 19667416 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692224 Wed, 12 Aug 2009 19:02:03 +0100 2692224 http://www.medworm.com/index.php?rid=2692223&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667417%26dopt%3DAbstract Authors: Suh B, Park TS, Kim JS, Song J, Kim J, Yoo JH, Choi JR The chromosomal abnormality der(9)t(1;9)(q11;q34) is a rare occurrence in patients with hematologic malignancies. As far as we know, only 3 cases of acute myeloid leukemia, 1 case of polycythemia vera, and 1 case of multiple myeloma with this derivative chromosome have been reported in the literature. Here we report the first case of der(9)t(1;9)(q11;q34) in a patient with chronic myelomonocytic leukemia (CMML). A 45-yr-old man was brought to our hospital for evaluation of pancytopenia and monocytosis. The patient's persistent monocytosis in peripheral blood and his bone marrow findings were consistent with the diagnosis of CMML. Chromosome study results repeatedly showed 46,XY,der(9)t(1;9)(q11;q34). In addition, the BCR/A... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692223 Wed, 12 Aug 2009 19:02:03 +0100 2692223 http://www.medworm.com/index.php?rid=2692222&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667418%26dopt%3DAbstract Authors: DeBari VA It has been demonstrated that decision levels (DL) and their confidence intervals (CI) can be estimated from the second derivative, f '' (P), of the logistic regression probability curve (LRPC). Although this method generally provides smooth curves from which DL and CI can be obtained, there are datasets that generate "noisy" curves making these measurements difficult. The purpose of this study was to develop a procedure to obviate this noise, thus allowing the more facile estimation of DL and CI. Data from two clinical studies were examined. Logistic regression analysis was performed and the first derivatives, f ' (P), were fitted to Gaussian models. The derivatives of these surrogate f ' (P) were generated to provide f '' (P) and were compared with data from receiv... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692222 Wed, 12 Aug 2009 19:02:03 +0100 2692222 http://www.medworm.com/index.php?rid=2692221&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19667419%26dopt%3DAbstract Authors: Hajdu SI PMID: 19667419 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science) Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2692221 Wed, 12 Aug 2009 19:02:03 +0100 2692221 http://www.medworm.com/index.php?rid=2525204&cid=s_36963_166_f&fid=36963&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19429794%26dopt%3DAbstract Authors: Tantibhaedhyangkul U, Tatevian N, Gilger MA, Major AM, Davis CM Eosinophilic esophagitis (EE) and gastroesophageal reflux disease (GERD) have similar clinical presentations. The immunoregulatory mechanisms involved in both diseases are not clearly defined. We studied cellular inflammation in pediatric patients with EE and GERD compared to normal controls (NC). Pathology records were reviewed of 10 EE, 8 GERD, and 10 NC children who were seen at Texas Children's Hospital in the past 3 yr. FOXP3, CD4, CD8, CD25, eotaxin-3, and IL-5 immunohistochemical stains were performed on formalin-fixed, paraffin-embedded esophageal tissue sections and assessed by a blinded observer. The numbers of FOXP3(+), CD25(+), and CD8(+) cells were significantly increased in both EE and GERD compared ... Annals of Clinical and Laboratory Science journals http://www.medworm.com/rss/comments.php?id=2525204 Sat, 27 Jun 2009 11:00:09 +0100 2525204