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Congenital birth defects

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https://www.readbyqxmd.com/read/29141329/-association-between-illness-and-mental-status-in-pregnant-women-and-birth-defects
#1
D D Zhao, Y X Dai, L Q Guo, R Liu, H L Wang, B B Mi, S N Dang, H Yan
Objective: To understand the prevalence of birth defects, related diseases and mental status of women during pregnancy in Shaanxi province and to analyse the major risk factors on birth defects and congenital heart disease. Possible association between maternal diseases or mental status and the risk of birth defects, was also explored. Methods: A cross-sectional design was used in this study and stratified multistage random sampling method was used. The whole survey was from Jury 2013 to November 2013. Logistic regression method was used to analyze the association between maternal diseases, mental status during pregnancy and birth defects...
November 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#2
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
November 13, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29128566/restoration-of-polr1c-in-early-embryogenesis-rescues-the-type-3-treacher-collins-syndrome-facial-malformation-phenotype-in-zebrafish
#3
Ernest Man Lok Kwong, Jeff Cheuk Hin Ho, Marco Chi Chung Lau, May-Su You, Yun-Jin Jiang, William Ka Fai Tse
Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, our group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating its expression. In this report, we aim to identify the functional time window of polr1c in TCS by the use of photo-morpholino to restore the polr1c expression at different time points...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29126909/-demographic-analysis-of-a-congenital-heart-disease-clinic-of-the-mexican-institute-of-social-security-with-special-interest-in-the-adult
#4
Horacio Márquez-González, Lucelli Yáñez-Gutiérrez, Jimena Lucely Rivera-May, Diana López-Gallegos, Eduardo Almeida-Gutiérrez
INTRODUCTION: Congenital heart disease (CHD) has an incidence of 8-10 cases per 1000 live births. In Mexico, there are 18,000-20,000 new cases per year. Most tertiary care centers for CHD attend only pediatric population; the Mexican Institute of Social Security (IMSS) has a clinic that attends pediatric and adult population. OBJECTIVE: To analyze the demographic aspects of the CHD clinic of IMSS. METHODS: From 2011 to 2016 a cross-sectional study of the CC clinic of a third level hospital of the IMSS, including all patients with confirmed structural heart disease of recent diagnosis was carried out...
November 7, 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/29118365/impaired-development-of-the-cerebral-cortex-in-infants-with-congenital-heart-disease-is-correlated-to-reduced-cerebral-oxygen-delivery
#5
Christopher J Kelly, Antonios Makropoulos, Lucilio Cordero-Grande, Jana Hutter, Anthony Price, Emer Hughes, Maria Murgasova, Rui Pedro A G Teixeira, Johannes K Steinweg, Sagar Kulkarni, Loay Rahman, Hui Zhang, Daniel C Alexander, Kuberan Pushparajah, Daniel Rueckert, Joseph V Hajnal, John Simpson, A David Edwards, Mary A Rutherford, Serena J Counsell
Neurodevelopmental impairment is the most common comorbidity associated with complex congenital heart disease (CHD), while the underlying biological mechanism remains unclear. We hypothesised that impaired cerebral oxygen delivery in infants with CHD is a cause of impaired cortical development, and predicted that cardiac lesions most associated with reduced cerebral oxygen delivery would demonstrate the greatest impairment of cortical development. We compared 30 newborns with complex CHD prior to surgery and 30 age-matched healthy controls using brain MRI...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112951/phenotype-and-specificity-of-t-cells-in-primary-human-cytomegalovirus-infection-during-pregnancy-il-7rpos-long-term-memory-phenotype-is-associated-with-protection-from-vertical-transmission
#6
Federico Mele, Chiara Fornara, David Jarrossay, Milena Furione, Alessia Arossa, Arsenio Spinillo, Antonio Lanzavecchia, Giuseppe Gerna, Federica Sallusto, Daniele Lilleri
Congenital human cytomegalovirus (HCMV) infection is the major cause of birth defects and a precise definition of the HCMV-specific T-cell response in primary infection may help define reliable correlates of immune protection during pregnancy. In this study, a high throughput method was used to define the frequency of CD4+ and CD8+ T cells specific for four HCMV proteins in the naïve compartment of seronegative subjects and the effector/memory compartments of subjects with primary/remote HCMV infection. The naïve repertoire displayed comparable frequencies of T cells that were reactive with HCMV structural (pp65, gB and the pentamer gHgLpUL128L) and non-structural (IE-1) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/29111139/seroprevalence-of-schmallenberg-virus-in-dairy-cattle-in-ethiopia
#7
Berhanu Sibhat, Gelagay Ayelet, Endrias Zewdu Gebremedhin, Eystein Skjerve, Kassahun Asmare
Schmallenberg virus (SBV) is a recently identified member of the genus Orthobunyavirus of the family Bunyaviridae. It is an arbovirus transmitted by different members of Culicoides spp of biting midges. The virus is more recognized for its effect on reproductive disorders in ruminants characterised by abortion, stillbirth and birth of congenitally defective newborns with hydranencephaly-arthrogryposis syndrome. The current study was undertaken with the objectives of exploring the presence of SBV exposure and identification of factors affecting its distribution among dairy cattle in Ethiopia...
October 27, 2017: Acta Tropica
https://www.readbyqxmd.com/read/29111080/morbidity-and-mortality-among-big-babies-who-develop-necrotizing-enterocolitis-a-prospective-multicenter-cohort-analysis
#8
Cristine S Velazco, Brenna S Fullerton, Charles R Hong, Kate A Morrow, Erika M Edwards, Roger F Soll, Tom Jaksic, Jeffrey D Horbar, Biren P Modi
BACKGROUND: Necrotizing enterocolitis (NEC) is classically a disease of prematurity, with less reported regarding morbidity and mortality of this disease among other infants. METHODS: Data were prospectively collected from 2009 to 2015 at 252 Vermont Oxford Network member centers on neonates with birth weight>2500g admitted to a participating NICU within 28days of birth. RESULTS: Of 1629 neonates with NEC, gestational age was 37 (36, 39) weeks, and 45% had major congenital anomalies, most commonly gastrointestinal defects (20%), congenital heart defects (18%), and chromosomal anomalies (7%)...
October 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29107849/teratogenic-bluetongue-and-related-orbivirus-infections-in-pregnant-ruminant-livestock-timing-and-pathogen-genetics-are-critical
#9
REVIEW
N James Maclachlan, Bennie I Osburn
Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally occurring teratogenic central nervous system and/or musculoskeletal defects (arthrogryposis) in domestic animals. Congenital infections of ruminant livestock with bluetongue virus (BTV) and some related members of the genus Orbivirus (family Reoviridae) have clearly shown the critical role of gestational age at infection in determining outcome...
November 3, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/29106052/regional-differences-in-right-versus-left-congenital-heart-disease-diagnoses-in-neonates-in-the-united-states
#10
Jennifer S Nelson, Paula D Strassle
BACKGROUND: Differences in the prevalence of left and right congenital heart defects (CHD) across the United States are unclear. This study evaluated the overall prevalence and the distribution of right versus left CHD across US regions and divisions in neonates. METHODS: Newborns born from 2000 to 2014 diagnosed with CHD were identified using the National Inpatient Sample. Heart defects were stratified into right, left, and "neither" subtypes. The risk of right and left heart diagnoses between US Census regions and divisions was compared using multivariable binomial regression, adjusting for infant, and hospital characteristics...
November 6, 2017: Birth defects research
https://www.readbyqxmd.com/read/29104383/comparison-of-dermatoglyphic-pattern-among-cleft-and-noncleft-children-a-cross-sectional-study
#11
Sandeep S Mayall, Seema Chaudhary, Harsimran Kaur, Naveen Manuja, Telegi Ravishankar, Ashish A Sinha
Background: Oral clefts are among the common congenital birth defects with a broad phenotypic gamut. Since the epidermal ridges of the fingers and palms as well as the facial structures like lip, alveolus, and palate are formed from the same embryonic tissues during the same embryonic period, the genetic and environmental factors responsible for causing cleft lip and palate might also affect dermatoglyphic patterns. Aim: Thus, study was undertaken to compare the dermato-glyphic pattern of children with orofacial clefts and normal children and to determine the correlation of dermatoglyphics with orofacial clefts...
July 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29103604/incidence-predictors-and-mortality-of-infective-endocarditis-in-adults-with-congenital-heart-disease-without-prosthetic-valves
#12
Darren Mylotte, Dinela Rushani, Judith Therrien, Liming Guo, Aihua Liu, Kenneth Guo, Giuseppe Martucci, Andrew S Mackie, Jay S Kaufman, Ariane Marelli
Congenital heart disease (CHD) increases the risk of infective endocarditis (IE), though the lesion-specific risk and mortality are poorly defined. Using the population-based Quebec CHD database, we sought to describe the predictors of IE and to evaluate if IE was associated with mortality among adult CHD (ACHD) patients without prior valve replacement surgery. We extracted data on ACHD patients with IE and assessed the lesion-specific incidence of IE, risk factors for IE acquisition, and all-cause 1-year mortality...
October 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29096572/prenatal-cardiac-magnetic-resonance-imaging-of-right-aortic-arch-with-mirror-image-branching-and-retroesophageal-left-ductus-arteriosus
#13
Su-Zhen Dong, Ming Zhu
OBJECTIVE: To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) in diagnosing right aortic arch with mirror image branching and retroesophageal left ductus arteriosus (RLDA). METHODS: This retrospective study included six infants diagnosed with right aortic arch with mirror image branching and RLDA postnatally by cardiac computed tomography (CT) that had fetal echocardiography (echo) and MRI initially performed. The six fetal MR cases were examined using 1...
November 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29093352/prevalence-and-risk-of-birth-defects-observed-in-a-prospective-cohort-study-the-hokkaido-study-on-environment-and-children-s-health
#14
Tomoyuki Hanaoka, Naomi Tamura, Kumiko Ito, Seiko Sasaki, Atsuko Araki, Tamiko Ikeno, Chihiro Miyashita, Sachiko Ito, Hisanori Minakami, Kazutoshi Cho, Toshiaki Endo, Tsuyoshi Baba, Toshinobu Miyamoto, Kazuo Sengoku, Reiko Kishi
BACKGROUND: Prevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation. METHODS: Subjects in this study comprised 19,244 pregnant women who visited one of 37 associated hospitals in the Hokkaido Prefecture from 2003 through 2012, and completed follow-up...
October 28, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/29092907/atrial-fibrillation-burden-in-young-patients-with-congenital-heart-disease
#15
Zacharias Mandalenakis, Annika Rosengren, Georg Lappas, Peter Eriksson, Thomas Gilljam, Per-Olof Hansson, Kristofer Skoglund, Maria Fedchenko, Mikael Dellborg
Background -Patients with congenital heart disease (CHD) are assumed to be vulnerable to atrial fibrillation (AF) due to residual shunts, anomalous vessel anatomy, progressive valvulopathy, hypertension, and atrial scars from previous heart surgery. However, the risk of developing AF as well as the complications associated with AF in children and young adults with CHD have not been compared with those in controls. Methods -Data from the Swedish Patient and Cause of Death Registers were used to identify all patients with a diagnosis of CHD who were born from 1970 to 1993...
November 1, 2017: Circulation
https://www.readbyqxmd.com/read/29089047/whole-exome-sequencing-in-342-congenital-cardiac-left-sided-lesion-cases-reveals-extensive-genetic-heterogeneity-and-complex-inheritance-patterns
#16
Alexander H Li, Neil A Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C A D'Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R Parekh, Wayne J Franklin, Mark Lewin, Jeffrey A Towbin, Daniel J Penny, Charles D Fraser, James F Martin, Christine Eng, James R Lupski, Richard A Gibbs, Eric Boerwinkle, John W Belmont
BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. METHODS: Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases...
October 31, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29083536/bipolar-disorder-in-pregnancy-a-review-of-pregnancy-outcomes
#17
REVIEW
Debra A Scrandis
INTRODUCTION: Women with bipolar disorder may benefit from continuation of their medications during pregnancy, but there may be risks to the fetus associated with some of these medications. This article examines the evidence relating to the effect of bipolar disorder and pharmacologic treatments for bipolar disorder on pregnancy outcomes. METHODS: MEDLINE, CINAHL, ProQuest Dissertation & Theses, and the Cochrane Database of Systematic Reviews were searched for English-language studies published between 2000 and 2017, excluding case reports and integrative reviews...
October 30, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29079565/essentiality-of-regulator-of-g-protein-signaling-6-and-oxidized-ca-2-calmodulin-dependent-protein-kinase-ii-in-notch-signaling-and%C3%A2-cardiovascular-development
#18
Bandana Chakravarti, Jianqi Yang, Katelin E Ahlers-Dannen, Zili Luo, Heather A Flaherty, David K Meyerholz, Mark E Anderson, Rory A Fisher
BACKGROUND: Congenital heart defects are the most common birth defects worldwide. Although defective Notch signaling is the major cause of mouse embryonic death from cardiovascular defects, how Notch signaling is regulated during embryonic vasculogenesis and heart development is poorly understood. METHODS AND RESULTS: Regulator of G protein signaling 6 (RGS6)(-/-)/Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)(VV) double mutant mice were developed by crossing RGS6(-/-) mice with mice expressing an oxidation-resistant CaMKIIδ (CaMKII(VV)), and the resulting embryonic defects/lethality were investigated using E7...
October 27, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29077229/does-cryopreservation-influence-perinatal-outcome-after-blastocyst-stage-vs-cleavage-stage-transfer-a-systematic-review-and-meta-analysis
#19
REVIEW
Carlo Alviggi, Alessandro Conforti, Ilma Floriana Carbone, Rosaria Borrelli, Giuseppe De Placido, Stefano Guerriero
OBJECTIVE: To compare the perinatal outcomes of singleton pregnancies between blastocyst and cleavage embryo transfer and to assess whether this differs between fresh and frozen embryo transfer cycles. METHODS: A systematic review of the literature was carried out using the SCOPUS, MEDLINE and ISI WEB OF SCIENCE databases with no time restriction. The search terms were "blastocyst", "cleavage-stage embryo", "perinatal outcome", "perinatal mortality", "preterm birth", "premature birth", "birth weight", "congenital abnormalities", "congenital defect", "deformity", and "birth defect"...
October 27, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29073929/health-related-quality-of-life-of-mothers-of-children-with-congenital-heart-disease-in-a-sub-saharan-setting-cross-sectional-comparative-study
#20
Lidia Sileshi, Endale Tefera
BACKGROUND: While the Health Related Quality of Life of the children with congenital heart defects is primarily affected, caring for a child with birth defect has an impact on the family's quality of life as well. Understanding the level of quality of life of the parents, which is likely to vary in different cultural settings, beliefs and parental educational status may help to implement educational programs and other interventional measures that may improve the HRQOL of parents of such children...
October 26, 2017: BMC Research Notes
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