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Congenital birth defects

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https://www.readbyqxmd.com/read/28804687/zika-virus-zikv-a-review-of-proposed-mechanisms-of-transmission-and-associated-congenital-abnormalities
#1
Sruti K Desai, Steven D Hartman, Shilpa Jayarajan, Stephanie Liu, G Ian Gallicano
Zika virus (ZIKV) has been of major international public health concern following large outbreaks in the Americas occurring in 2015-2016. Most notably, ZIKV has been seen to pose dangers in pregnancy due to its association with congenital abnormalities such as microcephaly. Numerous experimental approaches have been taken to address how the virus can cross the placenta, alter normal fetal development, and disrupt specific cellular functions. Many areas concerning the mechanisms of transmission, especially from mother to fetus, are largely unknown but demand further research...
2017: American Journal of Stem Cells
https://www.readbyqxmd.com/read/28803895/periderm-life-cycle-and-function-during-orofacial-and-epidermal-development
#2
REVIEW
Nigel L Hammond, Jill Dixon, Michael J Dixon
Development of the secondary palate involves a complex series of embryonic events which, if disrupted, result in the common congenital anomaly cleft palate. The secondary palate forms from paired palatal shelves which grow initially vertically before elevating to a horizontal position above the tongue and fusing together in the midline via the medial edge epithelia. As the epithelia of the vertical palatal shelves are in contact with the mandibular and lingual epithelia, pathological fusions between the palate and the mandible and/or the tongue must be prevented...
August 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28802092/utility-of-capture-recapture-methodology-to-estimate-prevalence-of-congenital-heart-defects-among-adolescents-in-11-new-york-state-counties-2008-to-2010
#3
Tugba Akkaya-Hocagil, Wan-Hsiang Hsu, Kristin Sommerhalter, Claire McGarry, Alissa Van Zutphen
BACKGROUND: Congenital heart defects (CHDs) are the most common birth defects in the United States, and the population of individuals living with CHDs is growing. Though CHD prevalence in infancy has been well characterized, better prevalence estimates among children and adolescents in the United States are still needed. METHODS: We used capture-recapture methods to estimate CHD prevalence among adolescents residing in 11 New York counties. The three data sources used for analysis included Statewide Planning and Research Cooperative System (SPARCS) hospital inpatient records, SPARCS outpatient records, and medical records provided by seven pediatric congenital cardiac clinics from 2008 to 2010...
August 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#4
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28796462/malformations-surveillance-comparison-between-findings-at-birth-and-age-1-year
#5
Emma G Thomas, Cathleen Higgins, Marie-Noel Westgate, Angela E Lin, Marlene Anderka, Lewis B Holmes
BACKGROUND: Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life. METHODS: The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program...
August 10, 2017: Birth defects research
https://www.readbyqxmd.com/read/28795449/zebrafish-models-of-orofacial-clefts
#6
REVIEW
Kaylia Duncan, Kusumika Mukherjee, Robert A Cornell, Eric C Liao
Zebrafish is a model organism that affords experimental advantages toward investigating the normal function of genes associated with congenital birth defects. Here we summarize zebrafish studies of genes implicated in orofacial cleft (OFC). The most common use of zebrafish in this context has been to explore the normal function an OFC-associated gene product in craniofacial morphogenesis by inhibiting expression of its zebrafish ortholog. The most frequently deployed method has been to inject embryos with antisense morpholino oligonucleotides targeting the desired transcript...
August 10, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28790014/bmp2-expression-in-the-endocardial-lineage-is-required-for-av-endocardial-cushion-maturation-and-remodeling
#7
Jacob G Saxon, Daniel R Baer, Julie A Barton, Travis Hawkins, Bingruo Wu, Thomas C Trusk, Stephen E Harris, Bin Zhou, Yuji Mishina, Yukiko Sugi
Distal outgrowth, maturation and remodeling of the endocardial cushion mesenchyme in the atrioventricular (AV) canal are the essential morphogenetic events during four-chambered heart formation. Mesenchymalized AV endocardial cushions give rise to the AV valves and the membranous ventricular septum (VS). Failure of these processes results in several human congenital heart defects. Despite this clinical relevance, the mechanisms governing how mesenchymalized AV endocardial cushions mature and remodel into the membranous VS and AV valves have only begun to be elucidated...
August 5, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#8
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28768736/congenital-diaphragmatic-hernias-from-genes-to-mechanisms-to-therapies
#9
REVIEW
Gabrielle Kardon, Kate G Ackerman, David J McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K Chung
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28768288/reliability-and-validity-of-a-smartphone-paired-pulse-oximeter-for-screening-of-critical-congenital-heart-defects-in-newborns
#10
Maurice J Huizing, Eduardo Villamor-Martínez, Ingrid A Chavagne, Ward Y Vanagt, Marc A E Spaanderman, Eduardo Villamor
BACKGROUND: Barriers to widespread implementation of pulse oximetry screening of critical congenital heart defects (CCHD) in newborns include increasing trends of out-of-hospital births and cost of equipment. In recent years, smartphone-compatible pulse oximeters have appeared on the market, but the validity of such devices in the setting of CCHD screening has not been evaluated. OBJECTIVES: To compare the performance in CCHD screening of a smartphone-paired pulse oximeter (Masimo iSpO2-Rx™) and a hospital-grade pulse oximeter (Masimo Radical-7™)...
August 3, 2017: Neonatology
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#11
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28764825/living-with-tricuspid-atresia-case-report-with-review-of-literature
#12
Brittany Watson Frock, Amy J Jnah, Desi M Newberry
Tricuspid atresia (TA) is a rare congenital heart defect in which the right atrioventricular connection, the tricuspid valve, is absent. As a result, there is no direct communication between the right atrium and right ventricle. Surgical treatment, including the Fontan procedure, is indicated yet palliative, leaving patients with various lifelong complications. A comprehensive literature review revealed a paucity of evidence-based education on the identification, evaluation, management, treatment, and life span implications of TA...
July 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28763732/exposure-to-air-pollution-and-noise-from-road-traffic-and-risk-of-congenital-anomalies-in-the-danish-national-birth-cohort
#13
Marie Pedersen, Ester Garne, Nete Hansen-Nord, Dorrit Hjortebjerg, Matthias Ketzel, Ole Raaschou-Nielsen, Anne-Marie Nybo Andersen, Mette Sørensen
BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled...
July 29, 2017: Environmental Research
https://www.readbyqxmd.com/read/28759840/an-experimental-canine-patent-ductus-arteriosus-occlusion-device-based-on-shape-memory-polymer-foam-in-a-nitinol-cage
#14
Mark A Wierzbicki, Sarah B Raines, Sonya G Gordon, John C Criscione, Ashley B Saunders, Scott Birch, Bradley Due, Brandis Keller, Landon D Nash, Matthew W Miller, Duncan J Maitland
Patent ductus arteriosus (PDA) is a congenital cardiovascular defect in which a fetal connection between the aorta and pulmonary artery does not spontaneously close shortly after birth. If left uncorrected serious complications and even death can occur. Surgical ligation is the traditional treatment method; however, it is an invasive procedure, that motivates development of a minimally invasive option. Shape memory polymer (SMP) foams are unique materials that hold promise in the field of minimally invasive occlusion devices...
July 25, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#15
Qian-Nan Guo, Hong-Dan Wang, Li-Zhen Tie, Tao Li, Hai Xiao, Jian-Gang Long, Shi-Xiu Liao
BACKGROUND: Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28747097/tissue-engineering-strategies-to-improve-osteogenesis-in-the-juvenile-swine-alveolar-cleft-model
#16
Montserrat Caballero, Donna C Jones, Zhengyuan Shan, Sajjad Soleimani, John A van Aalst
Alveolar <b>(gumline)</b> clefts are the most common congenital bone defect in humans, affecting 1 in 700 live births. Treatment <b>to repair these bony</b> defects relies on autologous, <b>cancellous</b> bone transfer from the iliac crest. This harvest requires a second surgical site <b>with increased </b>surgical time associated with potential complications, <b>while providing only limited cancellous bone</b>. Improvements in treatment protocols that avoid these limitations would be beneficial to patients with clefts and other craniofacial bone defects...
July 26, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28742214/association-of-combined-gif290t-c-heterozygous-mutation-fut2-secretor-variant-with-neural-tube-defects
#17
R M Guéant-Rodriguez, C Chery, B-M Fofou-Caillierez, J Voirin, B Foliguet, T Josse, D Tramoy, F François, J-L Guéant
Folate and vitamin B12 are needed for the proper embryo-fetal development possibly through their interacting role in the one-carbon metabolism. Folate fortification reduces the prevalence of complex birth defects, and more specifically neural tube defects (NTD). GIF and FUT2 are two genes associated with the uptake and blood level of vitamin B12. We evaluated GIF and FUT2 as predictors of severe birth defects, in 181 aborted fetuses compared to 375 healthy newborns. The GIF290C allele frequency was estimated to 0...
July 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28739660/a-gene-implicated-in-activation-of-retinoic-acid-receptor-targets-is-a-novel-renal-agenesis-gene-in-humans
#18
Patrick D Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W Darbro, Xiaojing Hong, Jason C Clarke, Kevin A Peterson, James Denegre, Michael Schneider, Caroline R Sussman, Lone Sunde, Dorte L Lildballe, Jens Michael Hertz, Robert A Cornell, Stephen A Murray, John R Manak
Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end stage renal disease. Genetic investigations have identified several gene variants which cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans...
July 24, 2017: Genetics
https://www.readbyqxmd.com/read/28738009/morphological-evaluation-of-clefts-of-the-lip-palate-or-both-in-dogs
#19
Santiago Peralta, Nadine Fiani, Kimi H Kan-Rohrer, Frank J M Verstraete
OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images...
August 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28737144/congenital-malformations-to-birth-defects-the-indian-scenario
#20
Surendra B Mathur, Sharmila B Mukherjee
No abstract text is available yet for this article.
July 15, 2017: Indian Pediatrics
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