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https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#1
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28208963/clinical-profile-of-cardiac-arrhythmias-in-children-attending-the-out-patient-department-of-a-tertiary-paediatric-care-centre-in-chennai
#2
Sarala Premkumar, Premkumar Sundararajan, Thangavelu Sangaralingam
INTRODUCTION: The presentation of symptoms of paediatric arrhythmias vary depending on the age and underlying heart disease. Physical examination of children with important arrhythmias may be entirely normal. AIM: Aim is to study the characteristics of cardiac arrhythmias in paediatric patients in a tertiary paediatric care centre in Chennai, India. MATERIALS AND METHODS: The participants (n=60) were from birth to 12 years of age. Patients with sinus arrhythmias, sinus tachycardia and sinus bradycardia were excluded...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208750/the-consequences-of-chromosome-segregation-errors-in-mitosis-and-meiosis
#3
REVIEW
Tamara Potapova, Gary J Gorbsky
Mistakes during cell division frequently generate changes in chromosome content, producing aneuploid or polyploid progeny cells. Polyploid cells may then undergo abnormal division to generate aneuploid cells. Chromosome segregation errors may also involve fragments of whole chromosomes. A major consequence of segregation defects is change in the relative dosage of products from genes located on the missegregated chromosomes. Abnormal expression of transcriptional regulators can also impact genes on the properly segregated chromosomes...
February 8, 2017: Biology
https://www.readbyqxmd.com/read/28206997/pulmonary-hypertension-in-preterm-infants-results-of-a-prospective-screening-program
#4
C G Weismann, J D Asnes, A Bazzy-Asaad, C Tolomeo, R A Ehrenkranz, M J Bizzarro
OBJECTIVE: Determine prevalence and associations with pulmonary hypertension (PH) in preterm infants. STUDY DESIGN: Prospective institutional echocardiographic PH screening at 36 to 38 weeks' corrected gestational age (GA) for infants born <32 weeks' GA who had bronchopulmonary dysplasia (BPD; group BPD), and infants without BPD who had a birth weight (BW) <750 g, or clinical suspicion for PH (group NoBPD). RESULTS: Two hundred and four infants were screened (GA 25...
February 16, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28205220/comprehensive-genome-profiling-of-single-sperm-cells-by-multiple-annealing-and-looping-based-amplification-cycles-and-next-generation-sequencing-from-carriers-of-robertsonian-translocation
#5
Yanwei Sha, Yankun Sha, Zhiyong Ji, Lu Ding, Qing Zhang, Honggen Ouyang, Shaobin Lin, Xu Wang, Lin Shao, Chong Shi, Ping Li, Yueqiang Song
Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28202111/-mortality-rate-and-cause-of-death-in-hospitalized-neonates-an-analysis-of-480-cases
#6
Feng-Dan Xu, Xiang-Yong Kong, Zhi-Chun Feng
OBJECTIVE: To investigate the mortality rate and the cause of death of hospitalized neonates. METHODS: The clinical data of 480 neonates who died between January 2008 and December 2014 were collected. The mortality rates of neonates with different gestational ages, birth weights, sexes, and ages in days were analyzed. The abnormal perinatal factors, cause of death, and death grade were summarized. RESULTS: Among the 41 910 hospitalized neonates, 480 (1...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28199379/the-effects-of-amoxicillin-treatment-of-newborn-piglets-on-the-prevalence-of-hernias-and-abscesses-growth-and-ampicillin-resistance-of-intestinal-coliform-bacteria-in-weaned-pigs
#7
Jinhyeon Yun, Satu Olkkola, Marja-Liisa Hänninen, Claudio Oliviero, Mari Heinonen
This study investigated the effects of a single amoxicillin treatment of newborn piglets on the prevalence of hernias and abscesses until the age of nine weeks. We also studied whether the treatment was associated with growth and mortality, the need for treatment of other diseases, the proportions of ampicillin resistant coliforms and antimicrobial resistance patterns of intestinal Escherichia coli (E. coli). A total of 7156 piglets, from approximately 480 litters, were divided into two treatment groups: ANT (N = 3661) and CON (N = 3495), where piglets were treated with or without a single intramuscular injection of 75 mg amoxicillin one day after birth, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28197921/sumoylation-in-craniofacial-disorders
#8
Erwin Pauws, Philip Stanier
Craniofacial development requires a complex series of coordinated and finely tuned events to take place, during a relatively short time frame. These events are set in motion by switching on and off transcriptional cascades that involve the use of numerous signalling pathways and a multitude of factors that act at the site of gene transcription. It is now well known that amidst the subtlety of this process lies the intricate world of protein modification, and the posttranslational addition of the small ubiquitin -like modifier, SUMO, is an example that has been implicated in this process...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28196368/pericardio-amniotic-shunting-for-incomplete-pentalogy-of-cantrell
#9
Alexander C Engels, Anne Debeer, Francesca M Russo, Michael Aertsen, Katleen Aerts, Marc Miserez, Jan Deprest, Liesbeth Lewi, Roland Devlieger
A 27-year-old woman, gravida 2, para 0, presented with an incomplete Pentalogy of Cantrell with an omphalocele, diaphragmatic hernia, and a pericardial defect at 32 weeks' gestation. A large pericardial effusion compressed the lungs and had led to a reduced lung growth with an observed-to-expected total lung volume of 28% as measured by MRI. The effusion disappeared completely after the insertion of a pericardio-amniotic shunt at 33 weeks. After birth, the newborn showed no signs of pulmonary hypoplasia and underwent a surgical correction of the defect...
February 15, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#10
Engin Deniz, Stephan Jonas, Michael Hooper, John N Griffin, Michael A Choma, Mustafa K Khokha
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28193233/tacrolimus-in-the-prevention-of-adverse-pregnancy-outcomes-and-diabetes-associated-embryopathies-in-obese-and-diabetic-mice
#11
Ahmad J H Albaghdadi, Melanie A Hewitt, Samantha M Putos, Michael Wells, Terence R S Ozolinš, Frederick W K Kan
BACKGROUND: T2DM is a high-risk pregnancy with adverse fetal and maternal outcomes including repeated miscarriages and fetal malformations. Despite the established association between placental insufficiency and poor maternal Th1-adaptability to the development of pregnancy complications in T2DM, there have been no established data to assess benefits of pre-pregnancy immunosuppression relative to gestational outcomes in T2DM. We hypothesized that pre-pregnancy macrolide immune suppression can re-establish normal placental development and uterine vascular adaptation in a mouse model of obesity-associated T2DM...
February 13, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#12
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28190456/mutations-in-inpp5k-encoding-a-phosphoinositide-5-phosphatase-cause-congenital-muscular-dystrophy-with-cataracts-and-mild-cognitive-impairment
#13
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell'Aica, René P Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C Walter, Tim M Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E Swan, Hanns Lochmüller, Jan Senderek
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosphate-5-phosphatase K...
February 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#14
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
February 10, 2017: Neurology
https://www.readbyqxmd.com/read/28186713/fetal-alcohol-research-caring-for-patients-with-prenatal-alcohol-exposure-a-needs-assessment
#15
Vincent C Smith, Phillip Matthias, Yasmin N Senturias, Renee M Turchi, Janet F Williams
BACKGROUND: Prenatal alcohol exposure (PAE) is the United States' most common preventable cause of birth defects and intellectual and developmental disabilities collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). OBJECTIVES: This study was designed to identify gaps in pediatric providers' knowledge and practices regarding FASD patient identification, diagnosis, management and referral, and to inform needs-based FASD resource development. METHODS: Pediatric providers (pediatricians, trainees, nurse practitioners) were exposed to survey links embedded in newsletters electronically distributed to the membership of two national professional societies...
January 27, 2017: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/28186364/rare-syndromes-of-the-head-and-face-mandibulofacial-and-acrofacial-dysostoses
#16
REVIEW
Karla Terrazas, Jill Dixon, Paul A Trainor, Michael J Dixon
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies...
February 10, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28185170/mechanisms-of-cardiomyocyte-proliferation-and-differentiation-in-development-and-regeneration
#17
REVIEW
Jessie Wettig Yester, Bernhard Kühn
PURPOSE OF REVIEW: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes...
February 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28182681/a-standardized-human-embryoid-body-platform-for-the-detection-and-analysis-of-teratogens
#18
Anthony Flamier, Supriya Singh, Theodore P Rasmussen
Teratogens are compounds that can induce birth defects upon exposure of the developing fetus. To date, most teratogen studies utilize pregnant rodents to determine compound teratogenicity in vivo. However, this is a low throughput approach that cannot easily meet the need for comprehensive high-volume teratogen assessment, a goal of the US Environmental Protection Agency. In addition, rodent and human development differ substantially, and therefore the use of assays using relevant human cells has utility. For these reasons, interest has recently focused on the use of human embryonic stem cells for teratogen assessment...
2017: PloS One
https://www.readbyqxmd.com/read/28182608/prevalence-and-clinical-attributes-of-congenital-microcephaly-new-york-2013-2015
#19
Krishika A Graham, Deborah J Fox, Achala Talati, Cristian Pantea, Laura Brady, Sondra L Carter, Eric Friedenberg, Neil M Vora, Marilyn L Browne, Christopher T Lee
Congenital Zika virus infection can cause microcephaly and other severe fetal neurological anomalies (1). To inform microcephaly surveillance efforts and assess ascertainment sources, the New York State Department of Health and the New York City Department of Health and Mental Hygiene sought to determine the prevalence of microcephaly in New York during 2013-2015, before known importation of Zika virus infections. Suspected newborn microcephaly diagnoses were identified from 1) reports submitted by birth hospitals in response to a request and 2) queries of a hospital administrative discharge database for newborn microcephaly diagnoses...
February 10, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28182341/external-quality-assessment-for-rubella-virus-rna-detection-using-armored-rna-in-china
#20
D Zhang, G Lin, L Yi, M Hao, G Fan, X Yang, R Peng, J Ding, K Zhang, R Zhang, J Li
BACKGROUND: Although tremendous efforts have been made to reduce rubella incidence, there are still 300 new cases of congenital rubella syndrome daily; thus, rubella infections remain one of the leading causes of preventable congenital birth defects. An effective surveillance system, which could be achieved and maintained by using an external quality assessment program, is critical for prevention and control of this disease. METHODS: Armored RNAs, which are noninfectious and RNase-resistant, were used for encapsulation of the E1 gene of rubella virus and for preparation of a 10-specimen panel for external quality assessment...
February 1, 2017: Clinical Laboratory
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