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Congenital birth defects

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https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#1
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28938115/a-human-bi-specific-antibody-against-zika-virus-with-high-therapeutic-potential
#2
Jiaqi Wang, Marco Bardelli, Diego A Espinosa, Mattia Pedotti, Thiam-Seng Ng, Siro Bianchi, Luca Simonelli, Elisa X Y Lim, Mathilde Foglierini, Fabrizia Zatta, Stefano Jaconi, Martina Beltramello, Elisabetta Cameroni, Guntur Fibriansah, Jian Shi, Taylor Barca, Isabel Pagani, Alicia Rubio, Vania Broccoli, Elisa Vicenzi, Victoria Graham, Steven Pullan, Stuart Dowall, Roger Hewson, Simon Jurt, Oliver Zerbe, Karin Stettler, Antonio Lanzavecchia, Federica Sallusto, Andrea Cavalli, Eva Harris, Shee-Mei Lok, Luca Varani, Davide Corti
Zika virus (ZIKV), a mosquito-borne flavivirus, causes devastating congenital birth defects. We isolated a human monoclonal antibody (mAb), ZKA190, that potently cross-neutralizes multi-lineage ZIKV strains. ZKA190 is highly effective in vivo in preventing morbidity and mortality of ZIKV-infected mice. NMR and cryo-electron microscopy show its binding to an exposed epitope on DIII of the E protein. ZKA190 Fab binds all 180 E protein copies, altering the virus quaternary arrangement and surface curvature...
September 21, 2017: Cell
https://www.readbyqxmd.com/read/28934941/folic-acid-usage-and-associated-factors-in-the-prevention-of-neural-tube-defects-among-pregnant-women-in-ethiopia-cross-sectional-study
#3
Meselech Ambaw Dessie, Ejigu Gebeye Zeleke, Shimelash Bitew Workie, Ayanaw Worku Berihun
BACKGROUND: Neural tube defects are among the most common birth defects, contributing to miscarriage, infant mortality, severe congenital abnormalities and serious disabilities. It is burdensome to patients, caregivers, healthcare systems and society. It could be reduced if women consume a folic acid supplement before and during the early weeks of pregnancy. This study assesses folic acid usage and associated factors for the prevention of neural tube defects among pregnant women in Ethiopia...
September 21, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#4
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28931341/the-neurotoxic-effects-of-prenatal-gabapentin-and-oxcarbazepine-exposure-on-newborn-rats
#5
Zuleyha Erisgin, Bulent Ayas, Jens R Nyengaard, N Ercument Beyhun, Yuksel Terzi
Teratogenicity is a problematic issue for pregnant women because of x-ray radiation, drugs, genetic and unknown variables. First generation antiepileptic drugs (AED) like valproic acid are well-known teratogens for developing foetuses. However, their usage is necessary in order to prevent maternal seizures. The underlying mechanism of birth defects associated with AED exposure remains unclear and information about the neurotoxic effects of prenatal exposure to AED is still limited. Oxcarbazepine (OXC) and gabapentin (GBP) are second generation antiepileptic drugs...
September 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28925604/epidemiology-and-prognosis-of-congenital-diaphragmatic-hernia-a-population-based-cohort-study-in-utah
#6
Hari Shanmugam, Luca Brunelli, Lorenzo D Botto, Sergey Krikov, Marcia L Feldkamp
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. METHODS: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28925590/analytic-methods-for-evaluating-patterns-of-multiple-congenital-anomalies-in-birth-defect-registries
#7
REVIEW
A J Agopian, Jane A Evans, Philip J Lupo
BACKGROUND: It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#8
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914749/raised-frequency-of-microcephaly-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#9
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. In 2016, rates of microcephaly appeared to start increasing around May, peaking in July, and declining through December. The occurrence of microcephaly appears to have increased nearly 4-fold in 2 large cities in Colombia, concurrently with the reported Zika virus epidemic in the country.
October 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#10
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28891233/fetoscopic-tracheal-occlusion-for-treatment-of-non-isolated-congenital-diaphragmatic-hernia
#11
Viola Seravalli, Eric B Jelin, Jena L Miller, Aylin Tekes, Luca Vricella, Ahmet A Baschat
Fetoscopic endotracheal occlusion (FETO) is a prenatal treatment that may increase survival in severe congenital diaphragmatic hernia (CDH). In the USA, FETO is offered for isolated severe left-sided CDH in the context of an FDA-approved feasibility study. FETO in non-isolated cases of severe CDH is only performed with a compassionate use exemption from US regulatory bodies. Anomalies frequently associated with CDH include congenital cystic lesions of the lung and cardiac defects. We describe two cases of non-isolated severe left-sided CDH that underwent prenatal FETO, survived after birth and underwent postnatal surgical repair...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28888041/supplementation-with-the-methyl-donor-betaine-prevents-congenital-defects-induced-by-prenatal-alcohol-exposure
#12
Ganga Karunamuni, Megan M Sheehan, Yong Qiu Doughman, Shi Gu, Jiayang Sun, Youjun Li, James P Strainic, Andrew M Rollins, Michael W Jenkins, Michiko Watanabe
BACKGROUND: Despite decades of public education about dire consequences of prenatal alcohol exposure, drinking alcohol during pregnancy remains prevalent. As high as 40% of live-born infants exposed to alcohol during gestation and diagnosed with Fetal Alcohol Syndrome have congenital heart defects that can be life-threatening. In animal models, the methyl donor betaine, found in foods such as wheat bran, quinoa, beets and spinach, ameliorated neurobehavioral deficits associated with prenatal alcohol exposure (PAE) but effects on heart development are unknown...
September 9, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28885087/encephalocele-development-from-a-congenital-meningocele-case-report
#13
Gurpreet S Gandhoke, Ezequiel Goldschmidt, Robert Kellogg, Stephanie Greene
A fetal MRI study obtained at 21 weeks' gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#14
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28876550/maternal-medicaid-recipient-status-and-congenital-malformations-among-new-york-state-live-births-in-2010
#15
Sandra D Richardson, Raina E Josberger
BACKGROUND: Congenital malformations are a leading cause of infant mortality in the United States, and risk for some congenital malformations varies by socioeconomic status (SES). Medicaid provides health insurance for people with low income, and covers approximately half of all live births in the United States. Income level is one aspect of SES. Studies have shown relationships between SES and some congenital malformations. METHODS: This retrospective cohort study examined associations between maternal Medicaid recipient status and 46 congenital malformations in New York State for birth year 2010...
September 6, 2017: Birth defects research
https://www.readbyqxmd.com/read/28872655/fosterkardiologiska-erfarenheter-fr%C3%A3-n-astrid-lindgrens-barnsjukhus
#16
Felicia Nordenstam, Sven-Erik Sonesson
Fetal Cardiology. Experiences from a tertiary referral centre in Stockholm, Sweden This review provides a brief overview of the current position and clinical experiences of fetal cardiology at a tertiary referral centre in Stockholm, Sweden. In Stockholm, more than 60% of congenital cardiac defects requiring surgery or catheter intervention before one year of age are detected before birth. This not only results in termination of pregnancy in the majority of cases carrying a poor prognosis, but also conveys a better postnatal care and prognosis in cases of continued pregnancy...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28869773/antioxidant-consumption-is-associated-with-decreased-odds-of-congenital-limb-deficiencies
#17
Nelson D Pace, Tania A Desrosiers, Suzan L Carmichael, Gary M Shaw, Andrew F Olshan, Anna Maria Siega-Riz
BACKGROUND: Approximately 1 in 2000 infants is born with a limb deficiency in the US. Research has shown that women's periconceptional diet and use of vitamin supplements can affect risk of birth defects. We investigated whether maternal consumption of nutritional antioxidants was associated with occurrence of transverse limb deficiency (TLD) and longitudinal limb deficiencies (LLD). METHODS: We analysed case-control data from mothers and their singleton infants with TLD (n = 566), LLD (n = 339), or no malformation (controls; n = 9384) in the National Birth Defects Prevention Study (1997-2009)...
September 4, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28863867/results-on-exposure-during-pregnancy-from-a-pregnancy-registry-for-as04-hpv-16-18-vaccine
#18
Marta López-Fauqued, Julia Zima, Maria-Genalin Angelo, Jens-Ulrich Stegmann
OBJECTIVE: To assess pregnancy outcomes after exposure to AS04-HPV-16/18 vaccine (Cervarix, GSK, Belgium) prior to, or during pregnancy, as reported to a pregnancy registry. METHODS: A pregnancy exposure registry was established to collect data in the United Kingdom and the United States. Exposure was defined as vaccination with AS04-HPV-16/18 within 60days before the estimated conception date and delivery. Reporting was voluntary. RESULTS: Between September 2007 and November 2015, 306 pregnancy exposure reports were received of which 181 were prospective, evaluable reports...
September 25, 2017: Vaccine
https://www.readbyqxmd.com/read/28860961/case-report-a-toddler-with-anasarca-caused-by-congenital-nephrotic-syndrome
#19
Tumelo M Satekge, Olivia Kiabilua, Gertruida van Biljon, Komala Pillay, Tahir S Pillay
Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive protein loss in the urine with associated compensatory mechanisms. Here we present a clinical case of a female toddler with a history of anasarca (severe generalised edema) from birth and who presents with the classical biochemical laboratory findings of nephrotic syndrome, together with the more pronounced features that arise from protein loss including abnormal thyroid function testing and a marked hypercholesterolaemia...
May 2017: EJIFCC
https://www.readbyqxmd.com/read/28857497/incidence-and-natural-history-of-neonatal-isolated-ventricular-septal-defects-do-we-know-everything-a-6-year-single-center-italian-experience-follow-up
#20
Alberto Cresti, Raffaele Giordano, Martin Koestenberger, Isabella Spadoni, Marco Scalese, Ugo Limbruno, Susanna Falorini, Stefania Stefanelli, Andrea Picchi, Francesco De Sensi, Angela Malandrino, Massimiliano Cantinotti
BACKGROUND: Despite ventricular septal defects (VSDs) are the most common congenital heart diseases (CHDs) in the neonatal period, their incidence and natural history are still debated and their follow-up and management strategies remain controversial. Our aim was to evaluate the incidence and natural history of isolated VSDs. METHODS: From January 1996 to December 2015 all neonates with a CHD suspicion were referred to the Cardiological Department of Grosseto Misericordia Hospital...
August 30, 2017: Congenital Heart Disease
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