Results 31 to 40 of about 2,087 (172)

Anatomical Characteristics of Patent Ductus Arteriosus and Choice of Transcatheter Occluder Devices

open access: yesPakistan Armed Forces Medical Journal
Objective: To determine the anatomical characteristics of Patent Ductus Arteriosus, choice of transcatheter occluder device and outcomes of Patent Ductus Arteriosus device closure. Study Design: Analytical Cross-sectional study.
Saima Rafique   +7 more
doaj   +1 more source

Efficacy and Safety of Paracetamol for Patent Ductus Arteriosus Closure in Preterm Infants: An Updated Systematic Review and Meta-Analysis

open access: yesFrontiers in Pediatrics, 2020
Background: Indomethacin and ibuprofen, two commonly used prostaglandin inhibitors, are the drugs of choice for patent ductus arteriosus. However, paracetamol is an alternative choice when these drugs are ineffective or contraindicated.
Yingqi Xiao   +5 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Granulomatous Inflammation and Pericarditis Induced by Silk Granuloma Related to Previous Surgical Ligation of Patent Ductus Arteriosus in a Dog

open access: yesVeterinary Sciences, 2022
Surgical ligation of a patent ductus arteriosus is regarded as a standard treatment approach with a low complication rate if performed by experienced surgeons, and it has been performed successfully for decades in dogs.
Chang-Hwan Moon   +6 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

Tratamiento farmacológico del conducto arterioso permeable en recién nacidos prematuros

open access: yesRevista de la Facultad de Medicina, 2019
Introducción. Por lo general, el manejo farmacológico del conducto arterioso permeable (CAP) comprende inhibidores no selectivos de la enzima ciclooxigenasa, en especial indometacina e ibuprofeno.
Hellmann Adrián Escobar   +6 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus

open access: yesActa Veterinaria Scandinavica, 2017
Background Congenital pulmonary valve stenosis and patent ductus arteriosus are common congenital heart defects in dogs. However, concurrence of atypical pulmonary valve stenosis and patent ductus arteriosus is uncommon.
Hakyoung Yoon   +3 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin   +7 more
wiley   +1 more source

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