Results 171 to 180 of about 96,013 (363)

Aortic arch malformations [PDF]

open access: yes, 2018
Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring.
Kellenberger, Christian
core  

Prolonged postnatal adaptation and enhanced prevalence of congenital heart diseases due to altitude may contribute to newborn mortality in Bolivia

open access: yesExperimental Physiology, EarlyView.
Abstract Highland populations suffer from significant infant mortality due to chronic ambient hypoxia, which increases the risk of congenital heart disease (CHD) and neonatal pulmonary hypertension. Neither the prevalence of these conditions nor the effectiveness of neonatal cardiac screening to identify CHD or pulmonary hypertension among neonates ...
Alexandra Heath   +12 more
wiley   +1 more source

Mediastinal bronchial artery aneurysm with short inflow segment successfully treated with a patent ductus arteriosus occluder device

open access: yesJournal of Vascular Surgery Cases and Innovative Techniques, 2020
Bronchial artery aneurysm (BAA) is a rare vascular abnormality that may result in life-threatening bleeding if it is left untreated. We present the case of a 35-year-old man with a mediastinal BAA characterized by a short inflow artery segment and ...
Neeral R. Patel, MBBS   +5 more
doaj  

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Resolución quirúrgica de conducto arterioso persistente en un canino de raza Pomerania [PDF]

open access: yes, 2016
The patent ductus arteriosus (PDA) is one of the most common congenital heart diseases in puppies. Depending on the severity of the case, the clinical classification of PDA includes several types (type I, II, IIIa, IIIb and IV).
Rueda Cabezas, Alejandro
core  

Patent Ductus Arteriosus [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1914
openaire   +3 more sources

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson   +14 more
wiley   +1 more source

Patent Ductus Arteriosus [PDF]

open access: yesArchives of Disease in Childhood, 1932
James W. Brown, D. C. Muir
openaire   +3 more sources

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