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 'Pediatric and Developmental Pathology' source. Sat, 10 Oct 2009 19:35:54 +0100 http://www.medworm.com/index.php?rid=1929710&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F38l7350lw12312g2%2F In this report, we present the radiologic and histopathologic features in a case of type I metatropic dysplasia, with the unusual features of a persistent tail, unique lung dysmorphology, and thyroidal agenesis. Content Type Journal ArticleAuthors M.J. O'Sullivan, Department of Pathology, St. Louis Children's Hospital, Washington University Medical Center, 660 S. Euclid Avenue, St. Louis, MO 63110, USA USW.H. McAllister, Department of Radiology, St. Louis Children's Hospital, Washington University Medical Center, 660 S. Euclid Avenue, St. Louis, MO 63110, USA USR.H. Ball, Department of Radiology, St. Louis Children's Hospital, Washington University Medical Center, 660 S. Euclid Avenue, St. Louis, MO 63110, USA USS.L. Teitelbaum, Department of Pathology, St. Louis Children's Hospital,... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1929710 Sat, 01 Nov 2008 06:55:51 +0100 1929710 http://www.medworm.com/index.php?rid=1368705&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fg11k08n5h6222528%2F In conclusion, HL-PTLD and HD appear to be two related but immunophenotypically and biologically distinct forms of lymphoproliferation in post-transplant patients and may require different protocols for their management. Content Type Journal ArticleCategory Original articleDOI 10.1007/s10024-003-9877-yAuthors S. Ranganathan, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine Department of Pathology 3705 5th Avenue Pittsburgh PA 15213 USAS. Webber, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine Department of Cardiology Pittsburgh PA 15213 USAS. Ahuja, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine Department of Hematology/Oncology Pittsburgh PA 15213 USAR. Jaffe, Children’s Hospital of ... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1368705 Fri, 11 Apr 2008 05:54:11 +0100 1368705 http://www.medworm.com/index.php?rid=1323024&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fu75876n3x1335h5w%2F We examined 1146 placentas of live-born infants with a birth weight of 500–1500 g. We then conducted analyses of pairs of characteristics and multiple characteristics to identify “associated groups” and “factors,” respectively. We found an associated group and factor that had placental features associated with acute inflammation and another associated group and factor that had features associated with vasculopathy. Acute umbilical vasculitis had the strongest correlation with other features of the acute inflammation associated group and factor. Gross evidence of acute inflammation (opacification and green appearance of membrane) was eliminated in the reduction from associated group to factor. Infarcts and syncytial knots were strongly dissociated with features of acute infl... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323024 Fri, 21 Mar 2008 19:26:27 +0100 1323024 http://www.medworm.com/index.php?rid=1323029&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fj1p1j9167np6120g%2F ABSTRACT   Progressive familial intrahepatic cholestasis (PFIC), originally described as “Byler disease” in an Amish kindred, has been distinguished from other forms of cholestatic liver disease in childhood by clinical findings, clinical–laboratory observations, and morphologic studies in biopsy, hepatectomy, and autopsy specimens. Correlation with genetic analyses has permitted both more precise definition of PFIC and distinctions within PFIC. Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), and PFIC-2, resulting from mutations in a gene called BSEP (bile salt export pump). Other forms of PFIC may yet be identified. The roles of FIC1 and BSEP in the secretion of bile acids into bi... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323029 Fri, 21 Mar 2008 19:26:25 +0100 1323029 http://www.medworm.com/index.php?rid=1323028&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ft034826402292880%2F In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD. Content Type Journal ArticleDOI 10.1007/s100249910022Authors Beril Talim, Department of Pediatric Pathology, Hacettepe Children's Hospital, 061... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323028 Fri, 21 Mar 2008 19:26:25 +0100 1323028 http://www.medworm.com/index.php?rid=1323027&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fb277416314675230%2F ABSTRACT   A prototype version of a new diagnostic assay for influenza A and B (Zstat Flu™) based on detection of viral neuraminidase was evaluated and compared to culture in 196 clinical samples. Children with respiratory illnesses were prospectively evaluated at a pediatrician's office and at a large children's hospital using the neuraminidase assay and viral culture performed on respiratory secretions. Influenza virus was isolated from 51 samples and 83 were positive by the neuraminidase assay. When compared to culture the sensitivity of the assay was 96%, specificity was 77%, positive predictive value was 59%, and negative predictive value was 98%. Testing in the laboratory of pure cultures of bacteria and non-influenza viruses frequently found in the respiratory trac... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323027 Fri, 21 Mar 2008 19:26:25 +0100 1323027 http://www.medworm.com/index.php?rid=1323026&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F3026j65843r4q13u%2F Content Type Journal ArticleDOI 10.1007/s100249910024Authors Vijay V. Joshi, Department of Pediatric Pathology, Connecticut Children's Medical Center and Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA US Journal Pediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal Volume Volume 3 Journal Issue Volume 3, Number 2 / March, 2000 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323026 Fri, 21 Mar 2008 19:26:25 +0100 1323026 http://www.medworm.com/index.php?rid=1323025&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fk83567685732346q%2F Content Type Journal ArticleDOI 10.1007/s100249910025Authors M. Moldavsky, Department of Pathology, Rebecca Sieff Government Hospital, Safed, Israel IL Journal Pediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal Volume Volume 3 Journal Issue Volume 3, Number 2 / March, 2000 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323025 Fri, 21 Mar 2008 19:26:25 +0100 1323025 http://www.medworm.com/index.php?rid=1323035&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F1j81p73797j93wj4%2F The objective of this study was to determine if perioperative elevation of cardiac troponin I (cTnI) predicts mortality in infants and children after surgical correction of congenital heart defects. One hundred infants and children having open heart surgery were studied. Blood samples for cTnI analysis were collected before cardiopulmonary bypass (CPB) and at 4, 8, 12, and 24 h after initiation of CPB. Demographic information, cardiac defect, repair performed, duration of CPB, complications, and outcome were recorded. Cardiac defects were categorized as atrial septal defect (ASD), ventricular septal defect (VSD), hypoplastic left heart syndrome (HLHS), complex, and “other.” Baseline cTnI was significantly lower in survivors (mean 0.42 ng/ml, median 0.35 ng/ml) than in nonsurvivor... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323035 Fri, 21 Mar 2008 19:26:24 +0100 1323035 http://www.medworm.com/index.php?rid=1323034&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Frj643704t586w567%2F We report a unique case of a minute, occult synovial sarcoma of the lung detected intraoperatively during a pneumothorax repair in a 17-year-old boy. No alternative primary site could be detected upon complete body imaging studies and physical examinations. The diagnosis was confirmed by demonstration of the characteristic SYT/SSX gene fusion by reverse transcriptase polymerase chain reaction (RT-PCR) performed upon RNA extracted from the paraffin block of the biopsy. This case demonstrates the utility of this technique in diagnostic pathology. Content Type Journal ArticleDOI 10.1007/s100249910011Authors Pedram Argani, Department of Pathology, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287, USA USFrederic B. Askin, Department of Pathology, The Johns Hopkin... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323034 Fri, 21 Mar 2008 19:26:24 +0100 1323034 http://www.medworm.com/index.php?rid=1323033&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fhr1143u72x5723g4%2F We describe two prepubertal girls with oncogenic rickets. The first patient, 9 years of age, presented with recent-onset lower-extremity pain. The second girl, presented at 4 years of age following a 9-month period of muscle weakness, bone pain, and poor linear growth. Laboratory analyses in both patients revealed hypophosphatemia and hyperphosphaturia; elevated circulating alkaline phosphatase activity was present in one of them. Radiographic evidence of a generalized rachitic process was evident in both cases. Computerized tomography of the paranasal sinuses and facial bones in patient 1 revealed a small lesion eroding through the inner table of the left mandibular ramus. Microscopic examination of this mass revealed a spindle cell neoplasm with chondroid material, dystrophic calci... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323033 Fri, 21 Mar 2008 19:26:24 +0100 1323033 http://www.medworm.com/index.php?rid=1323032&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F93636562475h4300%2F We report a case of juxtaposed Wilms' tumor (WT) and cystic nephroma (CN) in a 21-month-old girl which gave rise to radiological diagnostic difficulty. Preoperative chemotherapy was given, resulting in marked tumor necrosis but the cystic nephroma remained untouched. Histological examination showed characteristic features of a triphasic WT and a CN; the two lesions were separated by a thick fibrous capsule. While everybody agrees that WT and cystic partially differentiated nephroblastoma (CPDN) are closely related, there are two opposite views about their relationship to CN. One is that CN may represent the final step in maturation of WT and CPDN. Other authors argue that there is no evidence to support this theory but believe CN might have something in common with nephrogenic rests.... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323032 Fri, 21 Mar 2008 19:26:24 +0100 1323032 http://www.medworm.com/index.php?rid=1323031&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F2u15q43l33415454%2F ABSTRACT   This case provides a complete light microscopic, immunophenotypic, and molecular genetic analysis of autoimmune lymphoproliferative syndrome (ALPS), a rare benign cause of dramatic lymphadenopathy with atypical histology and phenotype that may be mistaken for malignancy. The patient is 3-year-old child who was first clinically evaluated at the age of 16 months because of marked generalized lymphadenopathy and hepatosplenomegaly. Histologic sections of a cervical lymph node demonstrated a marked paracortical proliferation of occasional small and intermediate-sized lymphocytes and numerous large immunoblasts, the majority of which displayed a CD3+, CD43+, CD45RO− (OPD4, UCHL1) CD4−, CD8− phenotype on paraffin sections, and which had a CD2+, CD3+, CD5+, CD56−... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323031 Fri, 21 Mar 2008 19:26:24 +0100 1323031 http://www.medworm.com/index.php?rid=1323030&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fa80224277567755g%2F In this study, we used the scores on the factors in cluster analyses and identified eight classes of neuroglial tumors. Each of these classes had significant differences in histology, allowing the separation of many of the conventional types of neuroglial tumors into two or more classes. For instance, fibrillary astrocytoma, pilocytic astrocytoma, subependymal giant cell astrocytoma, anaplastic astrocytoma, oligodendroglioma, and ependymoma were represented in two or more classes. Often these classes had statistically significant differences in survival distributions. For instance, the two classes of “anaplastic astrocytomas” have widely discrepant 5-year survival probabilities of 0.7 and 0.2. Use of the classes identified in this study ensures relatively homogeneous histologic s... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323030 Fri, 21 Mar 2008 19:26:24 +0100 1323030 http://www.medworm.com/index.php?rid=1323037&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fg06634205327402t%2F ABSTRACT   The Pró-Natal project is a collaborative initiative that aims to improve maternal and infant health in a deprived community in Natal, Northeast Brazil. To assess the perinatal and infant mortality in this population of 40,000, we have collected over a 2-year period a consecutive series of 39 autopsy examinations on deaths under 1 year of age. During this period there were 2212 live births in the study population. The 14 perinatal deaths are described using the Wrigglesworth classification, and the 25 infant deaths, using a clinicopathological system. The contribution of normally formed stillbirths was small (14%), which probably reflects the underreporting of stillbirths in this community. The most common cause of death in the live births was complications of pr... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323037 Fri, 21 Mar 2008 19:26:23 +0100 1323037 http://www.medworm.com/index.php?rid=1323036&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fq267k2618w363222%2F Content Type Journal ArticleDOI 10.1007/s100249910001Authors Kevin E. Bove, Division of Pediatric Pathology, Children's Hospital Medical Center, and the University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA USCynthia C. Daugherty, Division of Pediatric Pathology, Children's Hospital Medical Center, and the University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA USWes Tyson, Department of Pathology, Denver Children's Hospital, 1056 East 19th Avenue, Denver, CO 80218, USA USGary Mierau, Department of Pathology, Denver Children's Hospital, 1056 East 19th Avenue, Denver, CO 80218, USA USJames E. Heubi, Division of Pediatric Gastroenterology, Children's Hospital Medical Center, and the University of Cincinna... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1323036 Fri, 21 Mar 2008 19:26:23 +0100 1323036 http://www.medworm.com/index.php?rid=1246068&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fr6t3tr808l852505%2F We describe in detail the congenital malformations found in 65 cardiac explants acquired from a population of children over a period of 15 years. The specimens were examined and diagnosed using the method of sequential segmental analysis. The most prevalent type of cardiac malformation was severe obstruction of the left heart (29.2%), followed by double-outlet right ventricle (15.4%), complete transposition (13.8%), hearts with left-hand ventricular topology (10.8%), ventricular septal defect(s) (9.2%), tricuspid valvar agenesis (4.6%), and tetralogy of Fallot (4.6%). These abnormalities accounted for 87.6% of the specimens studied. We also cataloged the extracardiac malformations found at autopsy in those patients who died despite the transplantation. Extracardiac malformations w... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246068 Mon, 18 Feb 2008 19:51:37 +0100 1246068 http://www.medworm.com/index.php?rid=1246067&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fh835250550161206%2F This study was designed to evaluate the significance of gastric lymphoid follicles (LF) and aggregates (LA) in children with and without Helicobacter pylori (HP) infection. All 605 antrum biopsies performed during 1994 were reviewed and classified according to the presence or absence of inflammation, LF, or LA. HP was searched with a DiffQuik stain in all biopsies showing gastritis, LF, or LA. Gastritis was diagnosed in 80 biopsies (16 with LF, 18 with LA and 46 without LA or LF). Identification of HP in these biopsies was as follows: (a) cases with LF: 12/16; (b) cases with LA: 3/18; (c) cases without LF or LA: 8/46. The biopsies without gastritis had a higher frequency of LA (65/525) than of LF (2/525). HP was not identified in any case without gastritis. The presence of LF with his... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246067 Mon, 18 Feb 2008 19:51:37 +0100 1246067 http://www.medworm.com/index.php?rid=1246072&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F1373j305914w2630%2F Content Type Journal ArticleDOI 10.1007/s100249910015Authors Arthur G. Weinberg, Department of Pathology, Children's Medical Center, Dallas, TX, USA USGeorge Reed, Monterey, CA, USA USWilliam Q. Sturner, University of Arkansas for Medical Sciences, Arkansas State Crime Laboratory, Little Rock, AR, USA US Journal Pediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal Volume Volume 3 Journal Issue Volume 3, Number 1 / January, 2000 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246072 Mon, 18 Feb 2008 19:51:36 +0100 1246072 http://www.medworm.com/index.php?rid=1246071&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fg383660522vm76h2%2F ABSTRACT   We explored the mechanism of normal hepatic growth in children by evaluating the proliferation index (with Ki-67 antibody) and apoptosis index (with the ApopTag™ kit). The proliferative index is almost constant, but the level of apoptosis is very low in childhood and increases with age. Thus the growth of the liver in children is not due to a high proliferation index, but to a very low apoptosis index. Content Type Journal ArticleDOI 10.1007/s100249910009Authors D. Gheban, Pathology Department, University of Medicine and Pharmacy, Str. Peana nr. 18, bl. V6, ap. 4, 3400 Cluj-Napoca, Romania RO Journal Pediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal Volume Volume 3 Journal Issue Volume 3, Number 1 / January,... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246071 Mon, 18 Feb 2008 19:51:36 +0100 1246071 http://www.medworm.com/index.php?rid=1246070&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fq2726914gv48m626%2F ABSTRACT   The aims of this study were to determine whether immunohistochemical staining for C9 can demonstrate myocardial necrosis in the fetus and neonate. Hearts from cases of stillbirth or neonatal death with confirmed myocardial necrosis (in neonates) or with ischemic lesions outside the heart (in neonates and stillborns) were stained immunohistochemically with antibodies to C9. All five cases with confirmed myocardial infarction showed positive immunohistochemical staining for C9, largely localized to the infarcted areas. The youngest subject was born at 24 weeks gestation and died at 4 days of age. One of two neonates without myocardial necrosis on H&E staining but with pathological evidence of ischemic lesions elsewhere showed staining of scattered fibers. Six out o... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246070 Mon, 18 Feb 2008 19:51:36 +0100 1246070 http://www.medworm.com/index.php?rid=1246069&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F981844k67241671p%2F ABSTRACT   A pregnancy with one normal female fetus and a placenta that was divided into halves, one normal the other molar, is described. Genetic analysis shows the molar component to be hyperdiploid/tetraploid but having an identical DNA composition as the normal twin. Because there was no trophoblastic proliferation and the hyperdiploid cells were confined to the villous stroma, and because the molar component was still being perfused by diploid vessels from the normal twin, we believe the mole is derived from polyploidization of the mesenchymal epiblast in a monozygotic twin pregnancy. Content Type Journal ArticleDOI 10.1007/s100249910013Authors Kurt Benirschke, Department of Pathology, University of California San Diego, University Medical Center, 200 West Arbor Dri... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=1246069 Mon, 18 Feb 2008 19:51:36 +0100 1246069 http://www.medworm.com/index.php?rid=902536&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fj2213164n1352187%2F Content Type Journal ArticleDOI 10.1007/s10024-002-0107-9Authors Debra S. Heller, University of Medicine and Dentistry of New Jersey–New Jersey Medical School Department of Pathology UH/E158 185 South Orange Avenue Newark NJ 07103 USADemaretta Rush, Weill Medical College of Cornell University Department of Pathology Ithaca New York USARebecca N. Baergen, Weill Medical College of Cornell University Department of Pathology Ithaca New York USA Journal Pediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal Volume Volume 6 Journal Issue Volume 6, Number 3 / June, 2003 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=902536 Sun, 23 Sep 2007 03:43:38 +0100 902536 http://www.medworm.com/index.php?rid=845500&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F338142t741940763%2F ABSTRACT   Gaucher disease is the most prevalent inherited sphingolipidosis and results from deficient glucocerebrosidase activity. Three clinical forms of Gaucher disease have been described: type 1, or non-neuronopathic; type 2, or acute neuronopathic; and type 3, or subacute neuronopathic. We have identified a novel mutation in a patient of Russian-British descent who died of type 2 Gaucher disease a few hours after birth. A heterozygous T → C transition mutation in exon 6, cDNA nucleotide position 667, results in the substitution of tryptophan by arginine at amino acid residue 184 (W184R) of glucocerebrosidase. This mutation creates a new cleavage site for the restriction endonuclease Hinf1. We developed a method that utilizes Hinf1 restriction endonuclease analysis to... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=845500 Wed, 05 Sep 2007 20:39:28 +0100 845500 http://www.medworm.com/index.php?rid=845499&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ft636q33wq4663x70%2F We describe the intestinal pathology in multiple specimens from three children with BRRS. Examination of gastrointestinal biopsies from these children revealed predominantly colonic and rectal polyps with the histology of juvenile polyps. Additionally, two cases with clusters of ectopic ganglion cells within the lamina propria, one in a colonic polyp and one in a duodenal biopsy, and an atypical polyp were observed. Bannayan-Riley-Ruvalcaba syndrome should be included in the list of differential diagnostic considerations when a child or young adult presents with a juvenile polyp, particularly if unusual histologic features such as atypical polyps or ectopic ganglion cells are encountered. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=845499 Wed, 05 Sep 2007 20:39:28 +0100 845499 http://www.medworm.com/index.php?rid=845498&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F220t23285234h100%2F This study aimed to quantitate structural differences between normal and CDH-affected preterm lamb lungs. We hypothesized that (a) pulmonary hypoplasia is present in preterm CDH-affected lungs; (b) the relative degree of pulmonary hypoplasia increases with gestation; and (c) the left upper lobe (LUL) is affected most. Fetal lambs were allocated to two groups. One group underwent surgery (72–74 days gestation) inducing CDH. Both groups (n = 7, n = 7) were delivered by cesarean section at 129 days (term: 145–149). Lungs were obtained at autopsy, were inflation-fixed, processed for histology, and morphometry was performed. Preterm lungs of CDH-affected lambs in comparison to those of normal lambs demonstrated a reduction in the following: lung weight (37.7 g vs. 116.3 g); lung... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=845498 Wed, 05 Sep 2007 20:39:28 +0100 845498 http://www.medworm.com/index.php?rid=845497&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fj24x0p8m0q62211t%2F ABSTRACT   Inborn metabolic errors causing lysosomal storage, such as β-galactosidase deficiency (GM1 gangliosidosis [GM1]), have well-recognized effects on cellular function and morphology. In some classically “neuronal” storage diseases, including GM1, neuroradiologic observations of infants have suggested a delay in myelination on the basis of persistently “immature” signal intensities monitored over time. We sought to evaluate in a semiquantitative fashion the pattern and degree of myelination in two infantile GM1 patients, one boy and one girl, autopsied at 15 months of age. We assigned myelination degrees for defined sites on an ordinal scale of 0 to 4, and compared them to published population-based values for autopsied infants. In both patients, earlier-myeli... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=845497 Wed, 05 Sep 2007 20:39:28 +0100 845497 http://www.medworm.com/index.php?rid=845496&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fal867148803056l3%2F The objective of this study was to test the hypothesis that macrosomic infants of nondiabetic mothers have beta-cell hyperplasia in their pancreases. Pancreatic tissues were examined from 10 macrosomic fetuses and liveborn infants and from 10 comparison cases matched for gestational age and gender. None of the mothers had a history of diabetes and all had normal glucose screening during pregnancy. Tissues were stained with hematoxylin and eosin and a monoclonal antibody against beta cells and were analyzed using an image analysis program to evaluate the size and surface area of beta-cell clusters. Brain/liver weight ratios were calculated and compared. The total surface area and cluster size of beta cells in the pancreases of macrosomic subjects were significantly larger than in the ... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=845496 Wed, 05 Sep 2007 20:39:28 +0100 845496 http://www.medworm.com/index.php?rid=670964&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fb320257wv415g815%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670964 Thu, 07 Jun 2007 07:11:07 +0100 670964 http://www.medworm.com/index.php?rid=670968&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F37417pg52n483401%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670968 Thu, 07 Jun 2007 07:11:03 +0100 670968 http://www.medworm.com/index.php?rid=670974&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ft5g804j12k265g5u%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670974 Thu, 07 Jun 2007 07:10:47 +0100 670974 http://www.medworm.com/index.php?rid=670973&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fax7725042443v65m%2F We report a case of a benign solitary fibrous tumor that occurred in the right shoulder of a 9-year-old girl. This case is remarkable due to the unusual location of its occurrence and the young age of the patient. In addition, cytogenetic analysis revealed a karyotype unreported in this neoplasm: 46,XX,der(4)t(4;9)(q31.1;q34), del(9)(p22p24),der(9)t(4;9)(q31.1;q34)ins(9;?)(q34;?)(17 cells)/46,XX (3 cells). Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670973 Thu, 07 Jun 2007 07:10:28 +0100 670973 http://www.medworm.com/index.php?rid=670977&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F25t84524772h3x83%2F Abstract  Systemic form of juvenile xanthogranuloma with involvement of liver and bone marrow is reported in a 2-month-old female infant who presented with hepatosplenomegaly, severe anemia, and thrombocytopenia. There was no skin lesion, nor bone lesion. The enlarged liver has generalized yellowish spots. The diagnosis of juvenile xanthogranuloma was made by pathologic findings of marrow and portal tract infiltration by S-100 negative, CD1a negative, CD68 positive, and Factor XIIIa positive large pale to foamy histiocytes with Touton giant cells, and lack of Langerhans cell granule by electron microscopic examination. The patient was treated with Vinblastine and Etoposide, and experienced slow and gradual disease regression in one year. To the best of knowledge, this is th... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670977 Thu, 07 Jun 2007 07:10:05 +0100 670977 http://www.medworm.com/index.php?rid=670962&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fhp72j71368852h53%2F Summary  The diagnosis of mitochondrial disease is challenging and requires a multidisciplinary approach for investigation. Despite the complexity, a specific diagnosis can be achieved in many cases. A specific diagnosis may provide prognostic information for the patient and the option of prenatal testing for the family in a subsequent pregnancy. the case reports in this section nicely illustrate several common pediatric clinical presentations of mitochondrial disease and a systematic approach to investigation. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670962 Thu, 07 Jun 2007 07:09:24 +0100 670962 http://www.medworm.com/index.php?rid=670966&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F90m15l47657307k5%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670966 Thu, 07 Jun 2007 07:09:23 +0100 670966 http://www.medworm.com/index.php?rid=670976&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F12k8146577552r27%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670976 Thu, 07 Jun 2007 07:09:21 +0100 670976 http://www.medworm.com/index.php?rid=670958&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fgjjm0061r2k85j38%2F We describe the distribution of staining in autopsy pediatric tissues, dermatopathic and other reactive lymph nodes, and childhood histiocytic lesions using the 12D6 antibody (Novocastra). We also correlate CD1a (antibody O1O) staining to these factors. Langerin on epidermal LCs has a coarsely granular cell membrane and a cytoplasmic staining pattern that is always associated with CD1a expression. All 6 skin samples had Langerin+/CD1a+ LCs within the epidermis. Six of 8 thymuses showed single scattered dendriticshaped cells in the medulla and rare cells within Hassall corpuscles that coexpressed Langerin and CD1a. Cortical thymocytes were CD1a+/Langerin−. Four of 8 livers examined showed a sinusoidal lining pattern of Langerin+/CD1a−. All 15 autopsy lymph nodes showed a similarly s... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670958 Thu, 07 Jun 2007 07:09:13 +0100 670958 http://www.medworm.com/index.php?rid=670975&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F8n84j564j4454667%2F Abstract  Anencephaly is a designation for congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased to small masses attached to the base of the skull. The etiology is unknown. Whether the bony tissue or soft brain tissue is a primary factor is also unknown. The present study has focused on the posterior cranial fossa in anencephaly. The goal is to determine whether differences in the posterior cranial fossa could provide a basis for subclassification of anencephalic fetal skeletons. Twenty-three human anencephalic fetuses, at gestational ages 13 to 22 weeks, were studied. Radiologic and cephalometric analyses, including measurements of bone sizes and different angles, were performed. Permission for autopsy of the central nervous syst... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670975 Thu, 07 Jun 2007 07:09:12 +0100 670975 http://www.medworm.com/index.php?rid=670967&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F0qx33757mt2j1u12%2F Abstract  We investigated whether it is possible to accelerate the examination of a pediatric brain at autopsy and thus facilitate its return to the body before a fueral without compromising the quality of the neuropathologic examination. Accelerated fixation and next-day dissection of the brain was performed in selected cases over a 2-year period by using a microwave histologic tissue processor (MicroMed T/T MEGA, Milestone, Sorisole, Italy). Direct comparison of the histolotic appearance and immunohistochemical reactivity of 2 cases, 1 fixed by conventional methods and 1 fixed with the accelerated method, was performed in a blinded fashion by a specialist neuropathologist. Examination of rapidly fixed brain by conventional thin coronal sections was readily achieved. There... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670967 Thu, 07 Jun 2007 07:09:08 +0100 670967 http://www.medworm.com/index.php?rid=670960&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy0760hn9h34214g2%2F Abstract  In recent reports, investigators have described a variant of adult sclerosing rhabdomyosarcoma (RMS) that is characterized by a hyalinizing, matrix-rich stroma. To determine whether this variant occurs in children we investigated this phenomenon in a recent series of 1207 pediatric patients who had RMS accessioned by the Intergroup Rhabdomyosarcoma Study Group, now part of Children's Oncology Group. Thirteen patients had features of sclerosing RMS; 9 had been diagnosed with alveolar RMS (ARMS), 3 with embryonal RMS (ERMS),FKHR). Cytogenetic testing in 2 patients who had ARMS-like foci demonstrated mild hyperdiploidy in both patients and a near-tetraloid clone in 1 patient. Sclerosing RMS may arise in children, have mixed ERMS-ARMS histology, originate from the head... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670960 Thu, 07 Jun 2007 07:09:08 +0100 670960 http://www.medworm.com/index.php?rid=670972&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fp042231250522417%2F Abstract  The confident diagnosis of renal spindle cell tumors in children is often difficult. An immunohistochemical study of WT-1, Bcl-2, and CD34 was performed to determine their expression profiles and to assess the potential utility of these immunohistochemical markers in the differential diagnosis of 36 cases of renal spindle cell tumors of childhood. The cases included 11 stromal predominant Wilms tumors, 12 cellular mesoblastic nephromas, 9 clear cell sarcomas of the kidney (CCSK), and 4 monophasic synovial sarcomas. WT-1 was uniformly positive in primitive undifferentiated stromal Wilms tumors (6 of 6) and negative in the differentiating and differentiated stromal elements of Wilms tumors (0 of 5). WT-1 was also negative in cellular mesoblastic nephromas (0 of 12),... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670972 Thu, 07 Jun 2007 07:09:06 +0100 670972 http://www.medworm.com/index.php?rid=670961&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ff00p131377707646%2F In this study, the expressions of adhesive glycoproteins, laminin, and fibronectin were studied immunohistochemically in 25 autopsy cases of renal dysplasia and normal age-matehed control cases. These cases of renal dysplasia were categorized into 3 groups based on the period of gestation: 20 to 26 weeks, 17 to 33 weeks, and 34 to 40 weeks. The immunohistochemical findings were graded from 0 to 4+ based on the visual intensity. Chi-square analysis was used to calculate the difference in expressions of laminin and fibronectin in cases and controls as a whole and within and between age groups. Immunostaining for laminin in all age groups showed a significant difference in expression between dysplastic kidneys (less expression) and normal controls (greater expression). In the case of fi... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670961 Thu, 07 Jun 2007 07:09:02 +0100 670961 http://www.medworm.com/index.php?rid=670969&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fx661460111625616%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670969 Thu, 07 Jun 2007 07:08:51 +0100 670969 http://www.medworm.com/index.php?rid=670971&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fn65327121n4u1nh8%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670971 Thu, 07 Jun 2007 07:08:47 +0100 670971 http://www.medworm.com/index.php?rid=670970&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fe7745520l272h25l%2F Conclusions  It is impossible for the anatomic or clinical pathologist to reliably “rule out mitochondrial disease”. Nevertheless, we should gather the energy to work with our clinical colleagues and those in the research arena to better define these diseases over the next decade. One needs only to look at the progress made in peroxisomal diseases and fatty oxidation defects to know that such collaboration would lead to a better understanding of these complicated disorders [19]. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670970 Thu, 07 Jun 2007 07:08:45 +0100 670970 http://www.medworm.com/index.php?rid=670963&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F6670u050285k918k%2F We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / Decembe... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670963 Thu, 07 Jun 2007 07:08:44 +0100 670963 http://www.medworm.com/index.php?rid=670965&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fw6v456q588165275%2F We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level. Content TypeJournal Article JournalPediatric and Deve... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670965 Thu, 07 Jun 2007 07:08:39 +0100 670965 http://www.medworm.com/index.php?rid=670959&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fm132512rp0552w2w%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 7 Journal IssueVolume 7, Number 6 / December, 2004 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=670959 Thu, 07 Jun 2007 07:08:37 +0100 670959 http://www.medworm.com/index.php?rid=174219&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy3180043w2643m80%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174219 Wed, 21 Dec 2005 08:35:31 +0100 174219 http://www.medworm.com/index.php?rid=174220&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy3537mvn6g737172%2F In this report, the neuropathology of other conditions associated with intractable epilepsy is considered, suggesting that in them similar epilepsy-produced alterations in microarchitecture can be observed. The idea is important to define the optimum time for epilepsy surgery and the underlying etiology of these seizure-genic lesions. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174220 Wed, 07 Dec 2005 08:36:02 +0100 174220 http://www.medworm.com/index.php?rid=174221&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy73p465l6h713755%2F We report the case of a 12-year-old girl with GCTST of the right leg that metastasized to the lung. Cytogenetic studies from the primary tumor showed the phenomenon of telomeric association involving multiple chromosomes. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174221 Tue, 22 Nov 2005 08:31:05 +0100 174221 http://www.medworm.com/index.php?rid=174229&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ff111526110v13825%2F The investigation of sudden death of infants varies, and death rates may depend on local practices of death certification. We studied the extent of the investigation and the final cause of death (COD) in 3 regions: New York, New York, USA (NY); King County, Washington, USA (KC); and Montevideo, Uruguay (MU). We conducted a retrospective review of 543 cases (NY 258, KC 56, MU 229) of previously healthy babies who died suddenly without obvious trauma, at ages 0 to 12 months, over a 3-year period (1998 to 2001). All cases included a complete autopsy and histologic examination. Cases were assessed for completion of special studies (including radiographs, photos, toxicology and metabolic sampling, cultures, and vitreous humor chemistry), measurements, and scene investigation. Specialized pediat... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174229 Sat, 19 Nov 2005 14:11:53 +0100 174229 http://www.medworm.com/index.php?rid=174228&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fyv817220328mx5k2%2F A diagnosis of multiple gastric stromal tumors that were nonmetastatic at presentation was made in an 11-year-old girl who presented with hematemesis. Gastrointestinal stromal tumor (GIST) is a rare diagnosis in childhood and reported multiple lesions are generally seen in the context of familial disease, occasionally with syndromic associations. Although there are no reports of genetic mutation in cases of pediatric GIST, very many cases of multiple GISTs investigated on a molecular level have shown germline KIT or platelet-derived growth factor receptor-α mutation; these were familial cases. Despite the negative family history in our patient, the multiplicity of lesions in such a young patient raised concern for a genetic predisposition and prompted extensive molecular workup. Repeat ev... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174228 Sat, 19 Nov 2005 14:11:53 +0100 174228 http://www.medworm.com/index.php?rid=174225&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fp672j26j1561l409%2F Two cases of newborns with deletion 13q syndrome were identified and studied using electron microscopy and histologic, immunohistochemical, and special stained sections. We reviewed the published literature on genes that are haploinsufficient in the deletion 13q syndrome. The complexity of the deletion 13q syndrome phenotype is due at least in part to the haploinsufficiency of dosage-sensitive genes. Future studies need to be performed to identify their precise role in the cellular function and the development of the deletion 13q syndrome phenotype. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Patholo... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174225 Sat, 19 Nov 2005 14:11:53 +0100 174225 http://www.medworm.com/index.php?rid=174222&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F73044230tt24x204%2F We describe the clinical and pathologic features of an unusual case of alpha-thalassemia major in a patient who survived to term and lived for 9 days. The neonate was nonhydropic and the clinical picture was dominated by severe hypoxia with pulmonary hypertension. The diagnosis was not suspected until postnatal examination of the blood smear, which prompted the performance of hemoglobin electrophoresis and subsequent molecular confirmation. This case illustrates that alpha-thalassemia major should be in the differential diagnosis of hypoxic neonates even in the absence of hydrops. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Ped... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174222 Sat, 19 Nov 2005 14:11:53 +0100 174222 http://www.medworm.com/index.php?rid=174227&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy028460t27432512%2F We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain ... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174227 Sat, 19 Nov 2005 14:11:52 +0100 174227 http://www.medworm.com/index.php?rid=174226&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F7236200602738715%2F Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t(X;17)(p11.2;q25). Recently, it has been suggested that the inactivation of DNA mismatch repair genes hMLH1 and hMSH2 may play an additional role in the pathogenesis of alveolar soft part sarcoma. Immunohistochemical expression of the proteins hMLH1 and hMSH2 is indicative of the activation status of the corresponding genes. We performed immunohistochemistry for hMLH1 and hMSH2 in 4 cases of pediatric renal cell carcinomas with Xp11.2 rearrangements. All cases showed nuclear immunoreactivity for both proteins, although the staining was patchy. Our study demonstrates that inactivation of the DNA mismatch repair genes hMLH1 and hMSH2 does not appear to play a role in the tumorigenesis of p... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174226 Sat, 19 Nov 2005 14:11:52 +0100 174226 http://www.medworm.com/index.php?rid=174224&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Ff75688w886l35n67%2F We describe a unique series of 3 cases of biliary atresia (BA) associated with a choledochal cyst. All 3 children presented with jaundice at birth and had no other abnormalities. Although these children had a fetal form of BA, their presentation and outcome differed from those of biliary atresia splenic malformation syndrome (BASM), the well-described form of early onset BA. Unlike those with BASM, these children had no other associated malformations, had a normal birth weight, and did not yet require a liver transplant. We believe that the present series of patients and their associated pathology may represent a distinct phenotype with a common, prenatally acquired etiology that is different from other fetal forms of BA, such as BASM, and from patients who present with the classic perinat... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174224 Sat, 19 Nov 2005 14:11:52 +0100 174224 http://www.medworm.com/index.php?rid=174223&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fp321t50234338206%2F Livin is a recently identified member of the Inhibitor-of-Apoptosis protein (IAP) family of antiapoptosis proteins, and expression has been reported in melanoma and some types of carcinoma. We evaluated livin expression in paraffin-embedded tumor tissue from 68 patients with neuroblastoma (NB) and 7 NB cell lines by immunoperoxidase using an anti-livin monoclonal antibody. Eighteen (26.5%) of the 68 NB tumor tissues showed high livin expression, 36 (53%) showed low-intermediate expression, and 14 (20.5%) were negative. Similarly, 4 NB cell lines showed high livin expression, and 3 showed intermediate expression. In primary NB tissue, livin was observed mainly in tumor neuropil, an extension of tumor cell cytoplasm, and the cytoplasm itself. By reverse transcriptase–polymerase chain react... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174223 Sat, 19 Nov 2005 14:11:52 +0100 174223 http://www.medworm.com/index.php?rid=174230&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Flr2j642757153576%2F We report a male infant who exhibited typical features of Zimmermann-Laband syndrome with an unusual histopathologic finding. Excised tissue from the infant’s gingivae showed papillary projections that were composed of hyperplastic stratified squamous epithelium with different amounts of keratinization. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174230 Thu, 03 Nov 2005 08:03:58 +0100 174230 http://www.medworm.com/index.php?rid=174232&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy762165740886128%2F We present a case of an infant with Down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174232 Wed, 19 Oct 2005 07:25:27 +0100 174232 http://www.medworm.com/index.php?rid=174231&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F362581v3881r1t25%2F We report a case of preterm delivery of twin infants at 23 weeks of gestation with documented E. corrodens infection in 1 twin who was not resuscitated. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 4 / August, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174231 Wed, 19 Oct 2005 07:25:27 +0100 174231 http://www.medworm.com/index.php?rid=174236&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F74753x5044655264%2F Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueVolume 8, Number 6 / December, 2005 (Source: Pediatric and Developmental Pathology) Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174236 Thu, 13 Oct 2005 07:07:08 +0100 174236 http://www.medworm.com/index.php?rid=174234&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fkq4x61352w06m53j%2F This study identified cytogenetic abnormalities in a population screened for deletion 22q11.2 syndrome (D22S) by fluorescence in situ hybridization (FISH) and G-banding and correlated these abnormalities to referring specialty and submitted indications. Requests for the D22S FISH assay were retrospectively reviewed over a 29-month period in our institution. Positive test results for D22S FISH and other abnormalities found by other FISH assays and G-banding were correlated to submitting specialist and indication. Thirteen medical services ordered D22S FISH testing on 297 patients over 29 months. The detection rate for all cytogenetic aberrations was 9.4% (28 of 297) including 5.4% (16 of 297) for D22S detection by FISH and 2.7% (8 of 297) for detection of additional cytogenetic anomalies by... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174234 Thu, 13 Oct 2005 07:07:08 +0100 174234 http://www.medworm.com/index.php?rid=453434&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fpr2j371401438174%2F Spindle epithelial tumor with thymus-like elements is a rare thyroid lesion of children and young adults thought to be derived from branchial pouch remnants or foci of ectopic thymus. The lesion is poorly understood, and although it was originally believed to follow an indolent clinical course, its potential for late metastasis is becoming generally acknowledged. We have recently seen a unique case of this rare tumor in an 11-year-old boy, in which an unexpected and salient feature is the presence of a micrometastasis in a single lymph node at presentation. With the exception of 1 case with extensively infiltrative tumor and metastatic disease at the time of onset, in all other cases dissemination occurred years after surgical resection of the primary lesion. We review all previously repor... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=453434 Thu, 13 Oct 2005 07:06:50 +0100 453434 http://www.medworm.com/index.php?rid=174238&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fk573084063211414%2F We describe the case of a primary cervical tumor in a 6-year-old child that was originally suspected to be an embryonal rhabdomyosarcoma botryoides. Histologic analysis revealed a clear cell adenocarcinoma. Despite a direct search and questioning for maternal exposure to diethylstilbestrol, this was not documented. Clear cell adenocarcinoma is an extremely rare neoplasm that should be kept in the differential diagnosis of cervicovaginal lesions in children, even in the absence of a clinical history of in utero diethylstilbestrol exposure. We discuss the hypothesized pathogenesis and review the literature on this unusual tumor. Content TypeJournal Article JournalPediatric and Developmental PathologyOnline ISSN 1615-5742Print ISSN 1093-5266 Journal VolumeVolume 8 Journal IssueV... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174238 Thu, 13 Oct 2005 07:06:50 +0100 174238 http://www.medworm.com/index.php?rid=174237&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fy88h647553t78002%2F Lysosomal storage diseases (LSDs), due to deficiency of a lysosomal enzyme, are inherited, progressive disorders that are often fatal during childhood. The mucopolysaccharidoses (MPS) are LSDs caused by deficiency of a lysosomal enzyme needed for the stepwise degradation of glycosaminoglycans. A murine model of MPS VII shares many clinical, biochemical, and pathologic features with human MPS and has proved valuable for the study of the pathophysiology of MPS and for evaluation of therapies for LSDs. Early therapy of MPS VII mice, initiated in the first weeks of life, is much more effective in decreasing clinical and morphologic evidence of disease than treatment begun in mature animals. Whether such early therapy decreases existing storage or prevents its accumulation is incompletely inves... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174237 Thu, 13 Oct 2005 07:06:50 +0100 174237 http://www.medworm.com/index.php?rid=174235&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2Fbp38083lv72041t2%2F A 12-year-old female with developmental delay/mental retardation and a family history of gynecologic cancers presented with nonspecific abdominal complaints and was found to have a 4.5-kg, 25-− × 23-− × 15-cm pelvic mass with solid and cystic components and associated retroperitoneal and mesenteric lymphadenopathy. Laboratory studies revealed increased serum levels of CA-125 and inhibin B. Histologically, the tumor exhibited several different morphologic appearances including adult granulosa cell tumor, juvenile granulosa cell tumor (with areas of marked atypia), and Sertoli cell tumor. Immunohistochemically, the tumor was positive for calretinin, MIC-2 (CD99), S100 protein, PGP 9.5, and neuron-specific enolase. Electron microscopy of the Sertoli cell tumor-like areas showed Charcot-... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174235 Thu, 13 Oct 2005 07:06:50 +0100 174235 http://www.medworm.com/index.php?rid=174233&cid=s_33302_32_f&fid=33302&url=http%3A%2F%2Fwww.springerlink.com%2Fcontent%2F307u251230704154%2F During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 week... Pediatric and Developmental Pathology journals http://www.medworm.com/rss/comments.php?id=174233 Thu, 13 Oct 2005 07:06:50 +0100 174233