Results 51 to 60 of about 438,911 (213)
, 2020 We report an unusual case of a 12-month-old boy diagnosed with anomalous origin of a single coronary artery from the pulmonary artery associated with patent ductus arteriosus.
Pretre, R., Dommerc, C., Hugues, N.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
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 +6 more
doaj +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American 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
American 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
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 +6 more
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, 2018 Closure of a haemodynamically significant patent ductus arteriosus is recommended. Most cases of patent ductus arteriosus can be closed by a range of devices at cardiac catheterization.
Robert Yates
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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 +7 more
wiley +1 more source
Acta 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
Surgical closure of patent ductus arteriosus in pre-term babies [PDF]
, 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
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