Results 31 to 40 of about 26,942 (220)

Ductal closure with radiofrequency energy; outcomes of the first series

Indian Heart Journal, 2020
Using radiofrequency energy for closure of the patent ductus arteriosus (PDA) has been reported by us previously. In this article we report the early and late outcome of the first group in whom patent ductus arteriosus has been occluded with ...
Mohammad Dalili, Jayakeerthi Y. Rao, Mahmoud Meraji   +2 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

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

Pakistan 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, Sana Imtiaz, Khurram Akhtar, Amjad Mehmood, Andaleeb Ara, Abdul Wahab, Abubakar Sadiq, Javeria Kamran   +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

Frontiers 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, Hui Liu, Rujun Hu, Qiang You, Min Zeng, Xiaolian Jiang   +5 more
doaj   +1 more source

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

American 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, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +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

Veterinary 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, Woo-Jin Kim, Won-Jong Lee, Kyung-Min Kim, Hae-Beom Lee, Seong-Mok Jeong, Dae-Hyun Kim   +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

American 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, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +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

American 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, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Tratamiento farmacológico del conducto arterioso permeable en recién nacidos prematuros

Revista 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, Gyhill Meneses-Gaviria, Nataly Revelo-Jurado, Julián Felipe Villa-Rosero, Jhon Edison Ijají Piamba, Alexander Burbano-Imbachí, Anuar Alonso Cedeño-Burbano   +6 more
doaj   +1 more source

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

American 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, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source