keyword
MENU ▼
Read by QxMD icon Read
search

Congenital birth defects

keyword
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/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#3
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/28190456/mutations-in-inpp5k-encoding-a-phosphoinositide-5-phosphatase-cause-congenital-muscular-dystrophy-with-cataracts-and-mild-cognitive-impairment
#4
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
#5
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/28186364/rare-syndromes-of-the-head-and-face-mandibulofacial-and-acrofacial-dysostoses
#6
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
#7
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/28182608/prevalence-and-clinical-attributes-of-congenital-microcephaly-new-york-2013-2015
#8
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
#9
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
https://www.readbyqxmd.com/read/28178169/an-artificial-neural-network-prediction-model-of-congenital-heart-disease-based-on-risk-factors-a-hospital-based-case-control-study
#10
Huixia Li, Miyang Luo, Jianfei Zheng, Jiayou Luo, Rong Zeng, Na Feng, Qiyun Du, Junqun Fang
An artificial neural network (ANN) model was developed to predict the risks of congenital heart disease (CHD) in pregnant women.This hospital-based case-control study involved 119 CHD cases and 239 controls all recruited from birth defect surveillance hospitals in Hunan Province between July 2013 and June 2014. All subjects were interviewed face-to-face to fill in a questionnaire that covered 36 CHD-related variables. The 358 subjects were randomly divided into a training set and a testing set at the ratio of 85:15...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28177882/time-trends-in-the-prevalence-and-epidemiological-characteristics-of-neural-tube-defects-in-liaoning-province-china-2006-2015-a-population-based-study
#11
Tie-Ning Zhang, Ting-Ting Gong, Yan-Ling Chen, Qi-Jun Wu, Yuan Zhang, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Chen Zhou, Yan-Hong Huang
To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28176006/development-of-a-high-throughput-colorimetric-zika-virus-infection-assay
#12
Janis A Müller, Mirja Harms, Axel Schubert, Benjamin Mayer, Stephanie Jansen, Jean-Philippe Herbeuval, Detlef Michel, Thomas Mertens, Olli Vapalahti, Jonas Schmidt-Chanasit, Jan Münch
Zika virus (ZIKV) is an emerging pathogen that causes congenital infections which may result in birth defects, such as microcephaly. Currently, no approved treatment or vaccination is available. ZIKV can be readily detected in cell culture where virally infected cells are normally stained by specific antibodies. As ZIKV regularly causes a cytopathic effect, we were wondering whether this viral property can be used to quantitatively determine viral infectivity. We here describe the use of an 3-[4,5-dimethyl-2-thiazolyl]-2,5-diphenyl-2H-tetrazolium bromide-(MTT)-based cell viability assay that allows to determine ZIKV-induced cell death...
February 7, 2017: Medical Microbiology and Immunology
https://www.readbyqxmd.com/read/28164002/giant-omphalocele-complicated-by-postoperative-duodenal-obstruction
#13
Sunita Ojha, Shobha Parashar, Dharmil Doshi, Rajiv Kumar Bansal
Omphalocele is a congenital defect in the abdominal wall, usually treated at birth or within 1-2 years of life depending on condition of patient and size and contents of the defect. We repaired a giant omphalocele without mesh in a 9-year-old girl. She developed duodenal obstruction in the postoperative period requiring another laparotomy and duodeno-jejunostomy to bypass obstruction.
January 2017: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#14
REVIEW
Stacy Rosenblum, Abhijeet Pal, Kimberly Reidy
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT are a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Prenatal imaging is useful to identify CAKUT, but will not detect all defects. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development...
February 1, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28160402/genetic-advances-in-craniosynostosis
#15
Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28157255/current-views-on-fetal-surgical-treatment-of-myelomeningocele-the-management-of-myelomeningocele-study-moms-trial-and-polish-clinical-experience
#16
Jacek Zamłyński, Ewa Horzelska, Mateusz Zamłyński, Katarzyna Olszak-Wąsik, Leszek Nowak, Piotr Bodzek, Tomasz Horzelski, Rafał Bablok, Anita Olejek
Myelomeningocele (MMC) is the most frequent congenital defect of the central nervous system for which there is no satisfactory alternative to postnatal treatment. On the contrary prenatal MMC surgery is conducting before birth and is aimed at protecting from Chiari II malformation. The main goal of fetal MMC repair is to improve development and life quality of children with Chiari II malformation. Management of Myelomeningocele Study (MOMS) which was published in 2011 clearly confirmed effectiveness of prenatal surgery...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28157247/congenital-diaphragmatic-hernia-pathogenesis-prenatal-diagnosis-and-management-literature-review
#17
Przemysław Kosiński, Mirosław Wielgoś
Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28153478/perfusion-index-and-pulse-oximetry-screening-for-congenital-heart-defects
#18
Federico Schena, Irene Picciolli, Massimo Agosti, Antonio Alberto Zuppa, Gianvincenzo Zuccotti, Luciana Parola, Giulia Pomero, Giorgio Stival, Markus Markart, Silvia Graziani, Luigi Gagliardi, Cristina Bellan, Simona La Placa, Giuseppe Limoli, Gabriella Calzetti, Andrea Guala, Enza Bonello, Fabio Mosca
OBJECTIVE: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. STUDY DESIGN: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission...
January 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28151929/announcement-congenital-heart-defect-awareness-week-february-7-14-2017
#19
(no author information available yet)
Congenital Heart Defect Awareness Week is observed each year during February 7-14 to promote awareness and education about congenital heart defects (CHDs). CHDs affect approximately one in 100 births every year in the United States and are the most common type of birth defect (1,2). Heart defects are conditions that persons live with throughout their lives; an estimated 1 million children and 1.4 million adults in the United States were living with a CHD in 2010 (3). CDC's website, Stories: Living with Heart Defects, includes personal stories by persons affected by CHDs (https://www...
February 3, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28151899/cohort-study-on-maternal-cytomegalovirus-seroprevalence-and-prevalence-and-clinical-manifestations-of-congenital-infection-in-china
#20
Shiwen Wang, Tongzhan Wang, Wenqiang Zhang, Xiaolin Liu, Xiaofang Wang, Haiyan Wang, Xiaozhou He, Shunxian Zhang, Shuhui Xu, Yang Yu, Xingbing Jia, Maolin Wang, Aiqiang Xu, Wei Ma, Minal M Amin, Stephanie R Bialek, Sheila C Dollard, Chengbin Wang
Congenital cytomegalovirus (CMV) infection is the leading viral cause of birth defects and developmental disabilities in developed countries. However, CMV seroprevalence and burden of congenital CMV infection are not well defined in China.Cohort of newborns from 5 birthing hospitals in 2 counties of Shandong Province, China, were enrolled from March 2011 to August 2013. Dried blood spots (DBS) and saliva were collected within 4 days after birth for IgG testing for maternal seroprevalence and real-time PCR testing for congenital CMV infection, respectively...
February 2017: Medicine (Baltimore)
keyword
keyword
36203
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"