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This page shows you the most recent publications within this specialty of the MedWorm directory.

Prenatally Acquired Multiple Limb Ischemia in a Very Low Birth Weight Monochorionic Twin
Limb ischemia is an extremely rare event occuring in monochorionic twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS). The authors describe a case of TTTS and TAPS treated successfully using amnioreduction and laser ablation. However, severe ischemia of both lower extremities in the recipient twin developed after the fetal treatment. This serious complication was diagnosed on MRI in utero and confirmed postnatally. Elective amputation of the affected limbs was performed. The etiology of the disease remains unclear despite profound clinical and histopathologic...
Source: Fetal Diagnosis and Therapy - July 6, 2015 Category: Perinatology & Neonatology Source Type: research

Age Does Matter: A Pilot Comparison of Placenta-Derived Stromal Cells for in utero Repair of Myelomeningocele Using a Lamb Model
This study compares the effectiveness of placenta-derived mesenchymal stromal cells (PMSCs) from early-gestation versus term-gestation placenta to augment FM repair to improve distal motor function in a sheep model. Methods: Fetal lambs (n = 4) underwent surgical MMC creation followed by repair with FM patch with term-gestation PMSCs (n = 1), FM with early-gestation PMSCs (n = 1), FM only (n = 1), and skin closure only (n = 1). Histopathology and motor assessment was performed. Results: Histopathologic analysis demonstrated increased preservation of spinal cord architecture and large neurons in the lamb repaired with early...
Source: Fetal Diagnosis and Therapy - July 6, 2015 Category: Perinatology & Neonatology Source Type: research

Prenatal whole‐exome sequencing: parental attitudes
ConclusionsThe majority of respondents felt prenatal whole‐exome sequencing should be offered. Moreover, the majority wanted to know prenatally about treatable and non‐treatable childhood and adult conditions. © 2015 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - July 6, 2015 Category: Perinatology & Neonatology Authors: Eve J. Kalynchuk, Andrew Althouse, Lisa S. Parker, Devereux N. Saller, Aleksandar Rajkovic Tags: Original Article Source Type: research

The significance of gender in fetuses with increased nuchal translucency: pregnancy outcomes and long‐term outcomes of children
ConclusionAfter increased nuchal translucency, the pregnancy outcome of male fetuses was better due to the lower incidence of chromosomal abnormalities compared with female fetuses. Among euploid fetuses, the pregnancy outcome and the long‐term outcome were equal. © 2015 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - July 6, 2015 Category: Perinatology & Neonatology Authors: Outi Äyräs, Marianne Eronen, Minna Tikkanen, Päivi Rahkola‐Soisalo, Jorma Paavonen, Vedran Stefanovic Tags: Original Article Source Type: research

Uterine leiomyoma confounding a noninvasive prenatal test result
This study provides further evidence that the grossly ‘abnormal’ and ‘non‐reportable’ noninvasive prenatal testing result due to global genomic changes was attributable to a maternal uterine leiomyoma, in an otherwise normal fetus. The possibility of such adventitious findings is something about which physicians ordering noninvasive prenatal testing for their patients may want to offer pre‐test counseling. © 2015 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - July 6, 2015 Category: Perinatology & Neonatology Authors: Nilesh G. Dharajiya, Akira Namba, Isao Horiuchi, Shunsuke Miyai, Daniel H. Farkas, Eyad Almasri, Juan‐Sebastian Saldivar, Kenjiro Takagi, Yoshimasa Kamei Tags: NGS Special Issue Source Type: research

V25. Benign familial neonatal seizures and transient neonatal diabetes in a family with a mutation in ABCC8 encoding the SUR1 subunit of the ATP-sensitive potassium (K-ATP) channel
Benign familial neonatal seizures (BFNS) are a distinct epilepsy syndrome with selflimited seizures starting in the first days of life. The majority of cases is caused by mutations in the genes KCNQ2 and KCNQ3, encoding the voltage gated potassium channels Kv7.2 and Kv7.3. (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - July 5, 2015 Category: Neuroscience Authors: S. Syrbe, J. Houghton, M.K. Bernhard, J. Lemke, T.M. Kapellen, A. Merkenschlager Source Type: research

P89. Differential diagnosis between epilepsy and parasomnia may be difficult even on 10–20 video-EEG
We present the case of a 19year-old male with history of preterm birth, perinatal intracerebral hemorrhage, and post-hemorrhagic hydrocephalus.His parents reported up to 20 attacks per night characterized by startle from sleep, fearful expression in his eyes, grabbing hold of the bedframe, body rocking, and groaning, each episode lasting between 10 and 30s. (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - July 5, 2015 Category: Neuroscience Authors: S. Runge, P. Young, G. Möddel Source Type: research

Skeletal Dysplasias: An Overview.
This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions. © 2015 S. Karger AG, Basel. PMID: 26138847 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Offiah AC Tags: Endocr Dev Source Type: research

Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.
Abstract This section gives an overview of radiological findings in bony fragility states, with a special focus on osteogenesis imperfecta (OI) and rickets. Conventional radiological assessment of bone density is inaccurate and imprecise and only reliably detects severe osteopaenia. However, other aspects of bone structure and morphology can be assessed, and it is possible to distinguish between osteopaenic and osteomalacic states. OI is a heterogeneous group of disorders of type 1 collagen formation and processing that are characterised by varying degrees of bony fragility, with presentations varying from perinata...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Calder AD Tags: Endocr Dev Source Type: research

Helicobacter sp. MIT 01-6451 infection during fetal and neonatal life in laboratory mice.
Authors: Yamanaka H, Nakanishi T, Takagi T, Ohsawa M, Kubo N, Yamamoto N, Takemoto T, Ohsawa K Abstract Helicobacter sp. MIT 01-6451 has been detected in SPF mice kept in Japan. To characterize strain MIT 01-6451, its infection route during fetal and neonatal life and effects on pregnancy were investigated using immunocompetent and immunodeficient mouse strains (BALB/c, C57BL/6, and SCID). MIT 01-6451 was detected in the uterus, vagina, and mammary glands of 50% of infected SCID mice, whereas these tissues were all negative in immunocompetent mice. No fetal infections with MIT 01-6451 were detected at 16-18 days af...
Source: Experimental Animals - July 5, 2015 Category: Research Tags: Exp Anim Source Type: research

Male cloaca malformation: rare variant of anorectal malformation
Conclusion With familiarity of varying anatomy of MC, early recognition can avoid a neonatal colostomy in selected patients. (Source: Pediatric Surgery International)
Source: Pediatric Surgery International - July 5, 2015 Category: Surgery Source Type: research

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
ConclusionThis data suggests that exome sequencing is likely to be a valuable diagnostic testing option for pregnancies with multiple congenital anomalies detected by prenatal ultrasound; however, additional studies with larger cohorts of affected pregnancies are necessary to confirm these findings. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - July 5, 2015 Category: Perinatology & Neonatology Authors: Christina L. Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C. Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang Tags: Original Article Source Type: research

Protective effects of aloperine on neonatal rat primary cultured hippocampal neurons injured by oxygen–glucose deprivation and reperfusion
This study investigated the protective effects of ALO on neonatal rat primary-cultured hippocampal neurons injured by oxygen–glucose deprivation and reperfusion (OGD/RP). Treatment with ALO (25, 50, and 100 mg/l) attenuated neuronal damage (p < 0.01), with evidence of increased cell viability (p < 0.01) and decreased cell morphologic impairment. Furthermore, ALO increased mitochondrial membrane potential (p < 0.01), but inhibited intracellular-free calcium [Ca2+] i (p  < 0.01) elevation in a dose-dependent manner at OGD/RP. ALO also reduced the intracellular reactive oxygen s...
Source: Journal of Natural Medicines - July 4, 2015 Category: Drugs & Pharmacology Source Type: research

Efficacy of WHO recommendation for continued breastfeeding and maternal cART for prevention of perinatal and postnatal HIV transmission in Zambia.
CONCLUSIONS: Maternal cART may limit MTCT of HIV to the UNAIDS target of <5% for eradication of paediatric HIV within the context of a clinical study, but poor adherence to cART and follow-up can limit the benefit. Continued breastfeeding can prevent the rise in infant mortality after six months seen in previous studies, which encouraged early COB. PMID: 26140453 [PubMed - as supplied by publisher] (Source: Journal of the International AIDS Society)
Source: Journal of the International AIDS Society - July 4, 2015 Category: Infectious Diseases Tags: J Int AIDS Soc Source Type: research

Perinatal and Childhood Exposure to Cadmium, Manganese, and Metal Mixtures and Effects on Cognition and Behavior: A Review of Recent Literature
Abstract Lead (Pb) and mercury (Hg) neurotoxicity is well established. In recent years, a growing body of evidence suggests that environmental exposure to other metals including arsenic (As), cadmium (Cd), and manganese (Mn) and their mixtures also poses public health threats. In this paper, we summarize the recent literature examining the relationship of prenatal and childhood environmental metal exposures with cognitive and behavioral outcomes in children. We conducted a literature search to identify epidemiologic studies that examined the relationship of Cd, Mn, and metal mixtures with children’s neurodevelop...
Source: Current Environmental Health Reports - July 4, 2015 Category: Environmental Health Source Type: research

Needs assessment to improve neonatal intensive care in Mexico.
CONCLUSION: These findings may guide efforts to improving quality of care delivery in Mexican neonatal intensive care units. PMID: 26134488 [PubMed - as supplied by publisher] (Source: Paediatrics and international child health)
Source: Paediatrics and international child health - July 4, 2015 Category: Pediatrics Tags: Paediatr Int Child Health Source Type: research

Neonatal outcome in women with preterm premature rupture of membranes (PPROM) between 18 and 26 weeks
The Journal of Maternal-Fetal & Neonatal Medicine, Ahead of Print. (Source: Journal of Maternal-Fetal and Neonatal Medicine)
Source: Journal of Maternal-Fetal and Neonatal Medicine - July 4, 2015 Category: Perinatology & Neonatology Tags: article Source Type: research

Medication errors in neonatal care: A systematic review of types of errors and effectiveness of preventive strategies
Conclusions Medication errors are an avoidable cause of iatrogenic events in neonatal care settings. Evidence-based interventions implemented in collaboration with pharmacists, appear to be an effective way of reducing medication errors. (Source: Journal of Neonatal Nursing)
Source: Journal of Neonatal Nursing - July 4, 2015 Category: Perinatology & Neonatology Source Type: research

Impact of Immunoglobulin Therapy in Pediatric Disease: a Review of Immune Mechanisms
Abstract Intravenous immunoglobulin (IVIG) provides replacement therapy in immunodeficiency and immunomodulatory therapy in inflammatory and autoimmune diseases. This paper describes the immune mechanisms underlying six major non-primary immunodeficiency pediatric diseases and the diverse immunomodulatory functions of IVIG therapy. In Kawasaki disease, IVIG plays a major, proven, and effective role in decreasing aneurysm formation, which represents an aberrant inflammatory response to an infectious trigger in a genetically predisposed individual. In immune thrombocytopenia, IVIG targets the underlying increased pl...
Source: Clinical Reviews in Allergy and Immunology - July 4, 2015 Category: Allergy & Immunology Source Type: research

Neonatal Herpes Simplex Virus Infection
Herpes simplex virus (HSV) 1 and HSV-2 infections are highly prevalent worldwide and are characterized by establishing lifelong infection with periods of latency interspersed with periodic episodes of reactivation. Acquisition of HSV by an infant during the peripartum or postpartum period results in neonatal HSV disease, a rare but significant infection that can be associated with severe morbidity and mortality, especially if there is dissemination or central nervous system involvement. Diagnostic and therapeutic advances have led to improvements in mortality and, to a lesser extent, neurodevelopmental outcomes, but room e...
Source: Infectious Diseases Clinics of North America - July 4, 2015 Category: Infectious Diseases Authors: Scott H. James, David W. Kimberlin Source Type: research

Outbreak of colonization by carbapenemase-producing Klebsiella pneumoniae in a neonatal intensive care unit: Investigation, control measures and assessment
We describe an outbreak of carbapenemase-producing Klebsiella pneumoniae in a neonatal intensive care unit and assess the effect of infection control measures. Our assessment indicates that active surveillance culture is very useful in identifying multidrug-resistant organisms and its prevention from transmission. Besides contact precaution, environment disinfection, good compliance of hand hygiene, and single-room isolation is very important for preventing transmission of carbapenemase-producing K pneumoniae isolates. (Source: American Journal of Infection Control)
Source: American Journal of Infection Control - July 4, 2015 Category: Infectious Diseases Source Type: research

Neonatal Herpes Simplex Virus Infection
Publication date: Available online 4 July 2015 Source:Infectious Disease Clinics of North America Author(s): Scott H. James , David W. KimberlinTeaser Herpes simplex virus (HSV) 1 and HSV-2 infections are highly prevalent worldwide and are characterized by establishing lifelong infection with periods of latency interspersed with periodic episodes of reactivation. Acquisition of HSV by an infant during the peripartum or postpartum period results in neonatal HSV disease, a rare but significant infection that can be associated with severe morbidity and mortality, especially if there is dissemination or central nervous syste...
Source: Infectious Disease Clinics of North America - July 4, 2015 Category: Infectious Diseases Source Type: research

Missed opportunities for prevention of perinatal HIV infection
Publication date: Available online 3 July 2015 Source:The Brazilian Journal of Infectious Diseases Author(s): Vanessa Terezinha Gubert De Matos , Ana Lúcia Lyrio De Oliveira , Edinéia Ribeiro Dos Santos , Susã Kelly da Rocha Alencar , Márcia Maria Ferrairo Janini Dal Fabbro (Source: The Brazilian Journal of Infectious Diseases)
Source: The Brazilian Journal of Infectious Diseases - July 4, 2015 Category: Infectious Diseases Source Type: research

Using a novel laminar flow unit provided effective total body hypothermia for neonatal hypoxic encephalopathy
ConclusionThe laminar flow unit proved effective in maintaining moderate total body hypothermia under well‐controlled conditions and our results were very similar to other studies.This article is protected by copyright. All rights reserved. (Source: Acta Paediatrica)
Source: Acta Paediatrica - July 4, 2015 Category: Pediatrics Authors: Jose Maria Rodriguez Perez, Sergio G. Golombek, Gad Alpan, Augusto Sola Tags: Regular Article Source Type: research

Propranolol during pregnancy for large chorioangioma
We report the first use of propranolol with the aim of limiting the increase in chorioangioma volume and avoiding the associated complications. The observed inhibition of the growth of the chorioangioma after introduction of propranolol argues for further evaluation of this treatment in this indication. (Source: Medical Hypotheses)
Source: Medical Hypotheses - July 4, 2015 Category: Biomedical Science Authors: Patrick Padys, Laurence Fouque, Michel Le Duff, Dominique D’Hervé, Patrice Poulain Tags: Correspondence Source Type: research

Continuous distending pressure for respiratory distress in preterm infants.
CONCLUSIONS: In preterm infants with respiratory distress, the application of CDP as CPAP or CNP is associated with reduced respiratory failure and mortality and an increased rate of pneumothorax. Four out of six of these trials were done in the 1970s. Therefore, the applicability of these results to current practice is difficult to assess. Further research is required to determine the best mode of administration. PMID: 26141572 [PubMed - as supplied by publisher] (Source: Cochrane Database of Systematic Reviews)
Source: Cochrane Database of Systematic Reviews - July 4, 2015 Category: Journals (General) Authors: Ho JJ, Subramaniam P, Davis PG Tags: Cochrane Database Syst Rev Source Type: research

Role of Steroids in Hyperexcitatory Adverse and Anesthetic Effects of Sevoflurane in Neonatal Rats
Conclusion: These findings provide evidence for gender-independent acute electroencephalographic effects of sevoflurane at this age. Corticosterone and estradiol are involved in mediation of sevoflurane-caused seizures. Estradiol, but not corticosterone, also contributes to sevoflurane-caused spikes, by enhancing GABAAR-mediated excitation in the cortex. By enhancing GABAAR-mediated inhibition in more mature caudal regions of the brain, estradiol, contributes to sevoflurane-induced LORR.Neuroendocrinology (Source: Neuroendocrinology)
Source: Neuroendocrinology - July 3, 2015 Category: Endocrinology Source Type: research

Comparison of phenobarbitone and ursodeoxycholic acid in drug-augmented hepatobiliary scintigraphy for excluding the diagnosis of obstructive cholestasis in neonatal cholestasis syndrome
Objectives: Neonatal cholestasis is a common cause of jaundice among newborns. Hepatobiliary scintigraphy plays an important role in the diagnosis of neonatal cholestasis by ruling out extrahepatic biliary atresia, which is one of the common causes. Phenobarbitone and ursodeoxycholic acid (UDCA) have been used to improve the specificity of hepatobiliary scintigraphy in ruling out obstructive causes of neonatal cholestasis syndrome (NCS). The present study was undertaken to compare the utility of phenobarbitone and UDCA in augmenting hepatobiliary scintigraphy in the evaluation of NCS. Materials and methods: Seventy-four co...
Source: Nuclear Medicine Communications - July 3, 2015 Category: Nuclear Medicine Tags: Original Articles Source Type: research

Immunoglobulins in Neonates with Rhesus Hemolytic Disease of the Fetus and Newborn: Long-Term Outcome in a Randomized Trial
Conclusions: The long-term neurodevelopmental outcome in children treated with IVIg was not different from that in children treated with placebo. Standardized long-term follow-up studies with large enough case series and sufficient power are needed to replicate these findings.Fetal Diagn Ther (Source: Fetal Diagnosis and Therapy)
Source: Fetal Diagnosis and Therapy - July 3, 2015 Category: Perinatology & Neonatology Source Type: research

Late preterm babies and the risk of neurological damage.
Abstract Late preterm infants (born between 34+0 and 36+6 weeks gestation) account for the recent striking increase in premature birth and they carry a higher vulnerability to suffer brain insults compared to term infants. These babies can develop any kind of known brain lesions including those affecting the most premature babies (i.e.an intraventricular haemorrhage) and lesions affecting more typically term babies like asphyxia and stroke. In other words there is not a specific brain lesion characterizing this gestational age group, and there is not a specific maturational landmark although "subplate neurons" are ...
Source: Acta Bio-Medica : Atenei Parmensis - July 3, 2015 Category: Journals (General) Authors: Ramenghi LA Tags: Acta Biomed Source Type: research

German experience in the management of ELGAN infants.
Abstract Of 680 000 infants born in Germany a year roughly 10% are preterm and 1% are very preterm. They are treated in around 150 level 1 perinatal centers and there are various credos how to best treat the ELGAN infant. However, many centers include the use of a sustained inflation for lung aeration in the standard protocol of delivery room care in Germany. As a result of the large studies on delivery room care, a trend for earlier or prophylactic surfactant in the most immature infants can be observed, however, surfactant is increasingly given in a new less invasive way called LISA. German randomized controlled ...
Source: Acta Bio-Medica : Atenei Parmensis - July 3, 2015 Category: Journals (General) Authors: Fuchs H Tags: Acta Biomed Source Type: research

Respiratory management of ELGA infants in a region of Southern Italy.
Abstract The distribution of births in many regions of Southern Italy is scattered among a high number of level I centers, many of which still count less than 500 deliveries per year. Campania, the region around Naples, is no exception and this excessive fragmentation results in a high number of neonatal transports, many of which for respiratory distress. In the present paper, we review three different regional peculiarities relevant to the respiratory management of extremely low gestational age babies. PMID: 26135949 [PubMed - as supplied by publisher] (Source: Acta Bio-Medica : Atenei Parmensis)
Source: Acta Bio-Medica : Atenei Parmensis - July 3, 2015 Category: Journals (General) Authors: Capasso L, Cerullo J, Bucci L, Borrelli AC, Caiazzo R, Raimondi F Tags: Acta Biomed Source Type: research

Delivery room management of ELBW infants in Italy.
Abstract In this article we evaluated the consistency of practice and the adherence to the International Guidelines in early delivery room management of ELBW infants in Italy. A polyethylene bag/wrap was used by 54 centres (55.1%). In Northern regions, one centre (2.5%) reported to use oxygen concentrations &gt;40% to initiate positive pressure ventilation in ELBW infants. These proportions were higher in the Central (14.3%) and Southern (16.2%) areas. A T-piece device for positive pressure ventilation was widely used (77/97, 79.4%). A median of 13% (IQR: 5%-30%) of ELBW infants received chest compressions at b...
Source: Acta Bio-Medica : Atenei Parmensis - July 3, 2015 Category: Journals (General) Authors: Rech Morassutti F, Satariano I, Doglioni N, Criscoli G, Cavallin F, Gizzi C, Martano C, Ciralli F, Torielli F, Villani PE, Di Fabio S, Quartulli L, Giannini L, Trevisanuto D, Study Group Italian Society Of Neonatology OB Tags: Acta Biomed Source Type: research

Nonclinical Evaluation of Next-generation Therapeutic Monoclonal Antibodies.
Abstract   Therapeutic monoclonal antibodies (mAbs) exert their effects via binding to specific target molecules, which is expected to show rare off-target adverse reactions. However, nonclinical evaluation of mAbs is difficult because they often lack reactivity toward orthologous targets in animals. During the nonclinical evaluation of mAbs, not only the target molecules but fragment crystallizable (Fc) receptors, which regulate the immune effector functions and pharmacokinetic properties of mAbs, should be considered. In this review, factors for extrapolating nonclinical study results to clinical settings are d...
Source: Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan - July 3, 2015 Category: Drugs & Pharmacology Authors: Ishii-Watabe A, Tada M, Suzuki T, Kawasaki N Tags: Yakugaku Zasshi Source Type: research

Labor and Delivery Experiences of Mothers with Suspected Large Babies
Conclusions for Practice Only one in five US women who were told that their babies might be getting quite large actually delivered infants weighing ≥4000 g. However, the suspicion of a large baby was associated with an increase in perinatal interventions, regardless of actual fetal size. (Source: Maternal and Child Health Journal)
Source: Maternal and Child Health Journal - July 3, 2015 Category: Health Management Source Type: research

Comparing Two Review Processes for Determination of Preventability of Maternal Mortality in Illinois
Conclusions for practice The statewide MMRC found more potential preventability and determined that preventability was associated with provider and systems factors, not patient factors. Observed discrepancies between regional perinatal center and statewide MMRC reviews were likely due to the complexity of cases selected for review, the multidisciplinary external composition of the review team, and the de-identification of cases. Multidisciplinary statewide expert panels should be implemented in addition to local and regionalized reviews. (Source: Maternal and Child Health Journal)
Source: Maternal and Child Health Journal - July 3, 2015 Category: Health Management Source Type: research

Surgically managed perinatal testicular torsion: a single centre experience
The Journal of Maternal-Fetal & Neonatal Medicine, Ahead of Print. (Source: Journal of Maternal-Fetal and Neonatal Medicine)
Source: Journal of Maternal-Fetal and Neonatal Medicine - July 3, 2015 Category: Perinatology & Neonatology Tags: article Source Type: research

Management options of congenital pouch colon—a rare variant of anorectal malformation
Conclusion CPC had 8.8 % neonatal mortality. Pouch excision and definitive procedure are feasible in neonates with CPC. Coloplasty in CCPC may result in postoperative colonic dilatation. (Source: Pediatric Surgery International)
Source: Pediatric Surgery International - July 3, 2015 Category: Surgery Source Type: research

De novo KCNT1 mutations in early‐onset epileptic encephalopathy
Summary KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). We performed KCNT1‐targeted next‐generation sequencing (207 samples) and/or whole‐exome sequencing (229 samples) in a total of 362 patients with Ohtahara syndrome, West syndrome, EIMFS, or unclassified EOEEs. We identified nine heterozygous KCNT1 mutations in 11 patients: nine of 18 EIMFS cases (50%) in whom migrating foci were observed, one of 180...
Source: Epilepsia - July 3, 2015 Category: Neurology Authors: Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara, Jun Tohyama, Shin Nabatame, Junji Azuma, Yuji Fujii, Munetsugu Hara, Reimi Tsurusawa, Takahito Inoue, Reina Ogata, Yoriko Watanabe, Noriko Togashi, Hirofumi Kodera, Mitsuko N Tags: Brief Communication Source Type: research

India's new health policy draft 2015 and patient safety: A critical review
Publication date: Available online 3 July 2015 Source:Journal of Patient Safety &amp; Infection Control Author(s): Akilesh Ramasamy The draft of National Health Policy 2015 is under discussion and process of finalization. Issues of healthcare quality, maternal and neonatal health, communicable diseases, information technology, affordable and accessible healthcare, health as a fundamental right and justiciable healthcare are some of the key focus areas in the draft. Most of the focus areas of the draft will have a direct bearing on the patient safety. Numerous discussions on the National Health Policy Draft 2015 are a...
Source: Journal of Patient Safety and Infection Control - July 3, 2015 Category: Infectious Diseases Source Type: research

Information and Communication Technology Use Among Low-Income Pregnant and Postpartum Women by Race and Ethnicity: A Cross-Sectional Study
Conclusions: Mobile phones are widely available for the delivery of health interventions to low-income, racially diverse pregnant and postpartum women, but disparities in Internet use and SMS text messaging exist. Interventions or programs requiring Web-based apps may have lower uptake unless alternatives are available, such as those adapted for limited English proficiency populations. (Source: Journal of Medical Internet Research)
Source: Journal of Medical Internet Research - July 3, 2015 Category: Journals (General) Authors: Nymisha ChilukuriMeredith WestJanice Lynn HendersonShari LawsonRobert EhsanipoorKathleen CostiganSarah PolkWendy Bennett Source Type: research

Pregnancy following Mustard or Senning correction of transposition of the great arteries: a retrospective study
ConclusionsCardiac events after atrial repair for TGA are equally common in pregnant women and non‐pregnant controls, although worsening tricuspid regurgitation occurs more frequently in pregnancy. Induction of labour is to be expected but vaginal delivery is achievable in most cases. Infants are likely to be premature and small‐for‐gestational‐age. (Source: BJOG: An International Journal of Obstetrics and Gynaecology)
Source: BJOG: An International Journal of Obstetrics and Gynaecology - July 3, 2015 Category: OBGYN Authors: S Cataldo, M Doohan, K Rice, J Trinder, AG Stuart, SL Curtis Tags: Original Article Source Type: research

Impact of Surgery for Neonatal Gastrointestinal Diseases on Weight and Fat Mass
To compare growth, fat mass (FM), and fat-free mass in surgical infants vs matched controls at similar postconceptional age (PCA). (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - July 3, 2015 Category: Pediatrics Authors: Angela De Cunto, Giulia Paviotti, Laura Travan, Jenny Bua, Gabriele Cont, Sergio Demarini Tags: Original Article Source Type: research

Chorioamniotic membrane separation after fetoscopy in monochorionic twin pregnancies: incidence and impact on perinatal outcome
ConclusionsCMS complicated one fifth of all fetoscopies in MC twins. CMS seems to be more common before 18 weeks and it is associated with poorer outcomes. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - July 3, 2015 Category: Radiology Authors: J.U. Ortiz, E. Eixarch, A. Peguero, S.M. Lobmaier, M. Bennasar, J.M. Martinez, E. Gratacós Tags: Original Article Source Type: research

A Dramatic Improvement in Juvenile Parkinsonism in a Patient Negative for the PANK2 Mutation after Levodopa Treatment
Publication date: Available online 3 July 2015 Source:Pediatrics &amp; Neonatology Author(s): Syuan-Yu Hong , Inn-Chi Lee Juvenile Parkinson disease is rarer than the adult type, however it has more diverse presentations. The difficulty in identifying its etiology often leads to a delay in administering dopamine agonists such as levodopa, which may cause the symptoms to worsen. Herein, we report a 14-year-old girl with juvenile parkinsonism who was PNAK2 negative. She was initially diagnosed with Rett syndrome and received dopamine antagonists and antipsychotics which contributed to a worse clinical condition. Howeve...
Source: Pediatrics and Neonatology - July 3, 2015 Category: Perinatology & Neonatology Source Type: research