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Congenital birth defects

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https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#1
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29770094/travel-related-zika-virus-cases-in-canada-october-2015-june-2017
#2
J Tataryn, L Vrbova, M Drebot, H Wood, E Payne, S Connors, J Geduld, M German, K Khan, P A Buck
Background: Zika virus (ZIKV) is an emerging mosquito-borne disease that can cause severe birth defects if contracted congenitally. Since late 2015, there has been a large increase in the number of travel-related cases of Zika virus infection in Canada. Objective: The objective of this study was to describe the epidemiology of travel-related Zika cases in Canada from October 2015 to June 2017 and review them in the context of the international outbreak in the Americas...
January 4, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29764439/a-survey-on-outcomes-of-accidental-atovaquone-proguanil-exposure-in-pregnancy
#3
Kathrine R Tan, Jessica K Fairley, Mengxi Wang, Julie R Gutman
BACKGROUND: Malaria chemoprophylaxis options in pregnancy are limited, and atovaquone-proguanil (AP) is not recommended because of insufficient safety evidence. An anonymous, internet-based survey was disseminated to describe outcomes of pregnancies accidentally exposed to AP. Outcomes of interest included miscarriage (defined as pregnancy loss before 20 weeks), stillbirth (defined as pregnancy loss at or after 20 weeks), preterm birth or live birth prior to 37 weeks, and the presence of congenital anomalies...
May 15, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#4
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29756715/an-update-on-amniotic-bands-sequence
#5
Eunice López-Muñoz, Luis E Becerra-Solano
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29754141/unilateral-lung-agenesis-hiatal-hernia-and-atrioventricular-septal-defect-a-rare-combination-of-congenital-anomalies
#6
Sudheer R Gorla, Josaura Fernandez-Sanchez, Ashish Garg, Sethuraman Swaminathan
Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#7
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753093/epidemiology-of-septo-optic-dysplasia-with-focus-on-prevalence-and-maternal-age-a-eurocat-study
#8
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K Morris
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753092/sex-differences-for-major-congenital-heart-defects-in-down-syndrome-a-population-based-study
#9
Michele Santoro, Alessio Coi, Isabella Spadoni, Fabrizio Bianchi, Anna Pierini
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period)...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29751595/optical-electrophysiology-in-the-developing-heart
#10
REVIEW
Kandace Thomas, Julie Goudy, Trevor Henley, Michael Bressan
The heart is the first organ system to form in the embryo. Over the course of development, cardiomyocytes with differing morphogenetic, molecular, and physiological characteristics are specified and differentiate and integrate with one another to assemble a coordinated electromechanical pumping system that can function independently of any external stimulus. As congenital malformation of the heart presents the leading class of birth defects seen in humans, the molecular genetics of heart development have garnered much attention over the last half century...
May 11, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29747890/detection-and-prevention-of-perinatal-infection-cytomegalovirus-and-zika-virus
#11
REVIEW
Amber M Wood, Brenna L Hughes
Congenital cytomegalovirus is the most common viral congenital infection, and affects up to 2% of neonates. Significant sequelae may develop after congenital cytomegalovirus, including hearing loss, cognitive defects, seizures, and death. Zika virus is an emerging virus with perinatal implications; a congenital Zika virus syndrome has been identified, and includes findings such as microcephaly, fetal nervous system abnormalities, and neurologic sequelae after birth. Screening, diagnosis, prevention, and treatment of these perinatal infections are reviewed in this article...
June 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29747884/perinatal-care-of-infants-with-congenital-birth-defects
#12
REVIEW
Elizabeth K Sewell, Sarah Keene
Prenatal diagnosis has changed perinatal medicine dramatically, allowing for additional fetal monitoring, referral and counseling, delivery planning, the option of fetal intervention, and targeted postnatal management. Teams participating in the delivery room care of infants with known anomalies should be knowledgeable about specific needs and expectations but also ready for unexpected complications. A small number of neonates will need rapid access to postnatal interventions, such as surgery, but most can be stabilized with appropriate neonatal care...
June 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29747664/adverse-effects-in-children-exposed-to-maternal-hiv-and-antiretroviral-therapy-during-pregnancy-in-brazil-a-cohort-study
#13
Adriane M Delicio, Giuliane J Lajos, Eliana Amaral, Fernanda Cavichiolli, Marina Polydoro, Helaine Milanez
BACKGROUND: Antiretroviral therapy (ART) in pregnancy was associated with a drastic reduction in HIV mother-to-child transmission (MTCT), although it was associated with neonatal adverse effects. The aim of this study was to evaluate the neonatal effects to maternal ART. METHODS: This study was a cohort of newborns from HIV pregnant women followed at the CAISM/UNICAMP Obstetric Clinic from 2000 to 2015. The following adverse effects were evaluated: anemia, thrombocytopenia, liver function tests abnormalities, preterm birth, low birth weight and congenital malformation...
May 10, 2018: Reproductive Health
https://www.readbyqxmd.com/read/29743157/parents-experiences-of-caring-for-their-child-at-the-time-of-discharge-after-cardiac-surgery-and-during-the-postdischarge-period-qualitative-study-using-an-online-forum
#14
Jo Wray, Katherine Brown, Jenifer Tregay, Sonya Crowe, Rachel Knowles, Kate Bull, Faith Gibson
BACKGROUND: Congenital heart disease (CHD) is the most common class of birth defects, which encompasses a broad spectrum of severity ranging from relatively minor to extremely complex. Improvements in surgery and intensive care have resulted in an increasing number of infants with the most complex lesions surviving after surgery until the time of discharge from the hospital, but there remain concerns about out-of-hospital mortality, variability in how services are provided at the time of discharge and beyond, and difficulties experienced by some families in accessing care...
May 9, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#15
Jung-Keun Ko, Dirga Kumar Lamichhane, Hwan-Cheol Kim, Jong-Han Leem
Little information is available on the prevalences of birth defects in Korea. The aims of this study were to estimate recent prevalences of selected birth defects and to analyze the prevalence trends of these defects during the period from 2008 to 2014. Prevalences were calculated for 69 major birth defects using health insurance claim data obtained from the Korea National Health Insurance Service (NHIS). Prevalence rate ratios were calculated using Poisson regression to analyze trends over the 7-year study period...
May 5, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29732381/asymptomatic-prenatal-zika-virus-infection-and-congenital-zika-syndrome
#16
Enny S Paixao, Wei-Yee Leong, Laura C Rodrigues, Annelies Wilder-Smith
To investigate to what extent asymptomatic vs symptomatic prenatal Zika virus infections contribute to birth defects, we identified 3 prospective and 8 retrospective studies. The ratio varied greatly in the retrospective studies, most likely due to recruitment and recall bias. The prospective studies revealed a ratio of 1:1 for asymptomatic vs symptomatic maternal Zika infections resulting in adverse fetal outcomes.
April 2018: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29715697/epidemiology-and-outcome-of-major-congenital-malformations-in-a-large-german-county
#17
Boris Wittekindt, Rolf Schloesser, Nora Doberschuetz, Emilia Salzmann-Manrique, Jasmin Grossmann, Bjoern Misselwitz, Udo Rolle
INTRODUCTION:  Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA)...
May 1, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29714433/peritoneal-dialysis-in-neonates-six-years-of-single-center-experience
#18
Ferda Özlü, Hacer Yapıcıoğlu Yıldızdaş, Gül Şeker, Hüseyin Şimşek, Aysun Karabay Bayazıt, Mehmet Satar
Background/aim: Peritoneal dialysis (PD) is generally considered the practical dialysis modality for neonates in the treatment of acute kidney injury (AKI) and metabolic disturbances. The aim of this study was to evaluate the indications, complications, and outcomes of PD between January 2011 and December 2016. Materials and methods: This study included all 56 neonates that underwent PD over six years in our neonatal intensive care unit (NICU). A retrospective chart review was performed for all patients in our institution...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29712845/systematic-analysis-of-copy-number-variation-associated-with-congenital-diaphragmatic-hernia
#19
Qihui Zhu, Frances A High, Chengsheng Zhang, Eliza Cerveira, Meaghan K Russell, Mauro Longoni, Maliackal P Joy, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Caroline M Coletti, Pooja Bhayani, Regis Hila, Jay M Wilson, Patricia K Donahoe, Charles Lee
Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent whole-exome sequencing efforts, but larger copy number variants (CNVs) have not yet been studied on a large scale in a case control study...
April 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29712514/prenatal-diagnosis-of-suprarenal-mass-by-magnetic-resonance-imaging-a-case-series
#20
Pedro Castro, Ana Paula Matos, Heron Werner, Tatiana Fazecas, Renata Nogueira, Pedro Daltro, Edward Araujo Júnior
OBJECTIVE: The aim of this study was to evaluate the perinatal outcomes and postnatal follow-up of prenatally diagnosed suprarenal masses (SRMs) evaluated by magnetic resonance imaging (MRI). METHODS: Thirteen fetuses with SRMs detected during routine prenatal ultrasound screening were evaluated by MRI between February 2007 and May 2015. The prenatal characteristics of the masses, complications of the pregnancies, and related malformations were collected as the postnatal clinical, radiological, and pathological data...
May 15, 2018: Journal of Maternal-fetal & Neonatal Medicine
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