Results 41 to 50 of about 54,938 (253)

Surgical closure of patent ductus arteriosus in pre-term babies [PDF]

open access: yes, 2007
The objective of this article is to present by illustration the surgical options in neonatal PDA closure with emphasis on clip application.peer ...
Valentik, Pavel   +4 more
core  

Age-Related Prevalence of Open Ductus Arteriosus in Full-Term Newborns [PDF]

open access: yes, 2023
Background: The ductus arteriosus is part of the fetal circulation. Normally, the vessel closes during the cardiac transition. Delayed closure is associated with complications.
Anna Axelsson Raja   +28 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

Comparison of two dose regimens of ibuprofen for the closure of patent ductus arteriosus in preterm newborns

open access: yesJornal de Pediatria (Versão em Português), 2016
Objective: To compare the efficacy of intravenous ibuprofen at high doses (20, 10, and 10 mg/kg/dose) and at low doses (10, 5, and 5 mg/kg/dose) in closure of the ductus arteriosus in preterm neonates.
Laura Vargas Dornelles   +3 more
doaj   +3 more sources

Prevalence of patent ductus arteriosus.

open access: yes, 2013
Prevalence of patent ductus arteriosus.
Feng Zhao (90241)   +3 more
core   +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

Bronchopulmonary Dysplasia in Premature Infants: Pathogenesis, Clinical Picture, Treatment and Prevention (Part 1)

open access: yesZdorovʹe Rebenka, 2013
The article describes the current views on the pathogenesis, clinical picture, diagnosis and treatment of bronchopulmonary dysplasia. Special attention is paid to the influence of ductus arteriosus on the occurrence and severity of bronchopulmonary ...
V.I. Snysar   +4 more
doaj   +1 more source

The impact of medication shortages on paediatric care: A retrospective impact analysis

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Medication shortages are a growing global concern, with potentially greater consequences in paediatric patients because of the limited availability of safe, evidence‐based and appropriately formulated medication. This study aimed to evaluate the impact of medication shortages on paediatric patients by assessing the suitability and safety of ...
Maaike Johanna Rutten ‐ van Kranenburg   +6 more
wiley   +1 more source

Keeping the Ductus Arteriosus Patent: Current Strategy and Perspectives

open access: yesDiagnostics
Patent ductus arteriosus (PDA) continues to be a significant finding among infants, as well as adults. What is widely considered to be a problem though, in a group of patients with congenital heart disease, it is the only lifeline.
Anastasios Chatziantoniou   +3 more
doaj   +1 more source

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