Results 201 to 210 of about 96,013 (363)

Spontaneous Closure of Patent Ductus Arteriosus in Infants ≤1500 g

open access: yesPediatrics, 2017
J. Šemberová   +8 more
semanticscholar   +1 more source

Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis

open access: yesAnnals of Human Genetics, Volume 89, Issue 2-3, Page 126-131, May 2025.
ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by a defect in protective protein/cathepsin A (PPCA) encoded by the CTSA gene. The late‐infantile onset is characterized by developmental delay, visceromegaly, coarse facies, and cherry‐red macula.
Lukana Ngiwsara   +6 more
wiley   +1 more source

Lung function outcomes in adults born extremely preterm across three decades of advancing perinatal medicine

open access: yesActa Paediatrica, Volume 114, Issue 5, Page 863-876, May 2025.
Abstract Aim Advances in perinatal medicine from 1980 to 2000 improved survival in extremely preterm (EP) neonates. Long‐term effects of these developments remain unclear, and we aimed to investigate potential cohort effects on adult lung function. Methods Three 18‐year‐old population‐based cohorts born at ≤28 weeks gestation or with birthweight ≤1000 ...
Tonje Bårdsen   +9 more
wiley   +1 more source

Predicting Risk for Patent Ductus Arteriosus in the Neonate: A Machine Learning Analysis. [PDF]

open access: yesMedicina (Kaunas)
Jura AMC   +9 more
europepmc   +1 more source

Being born extremely preterm with low‐grade intraventricular haemorrhage had no impact on brain volumes or neurodevelopment in later childhood

open access: yesActa Paediatrica, Volume 114, Issue 5, Page 972-979, May 2025.
Abstract Aim Our aim was to investigate the impact that low‐grade intraventricular haemorrhage (IVH) had on neonatal morbidities, brain volumes and neurodevelopmental outcomes in children born extremely preterm (EPT) and compare them with children born EPT without low‐grade IVH. Methods This prospective cohort study was carried out in Stockholm, Sweden.
Lina Broström   +5 more
wiley   +1 more source

The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review

open access: yesClinical Genetics, Volume 107, Issue 5, Page 527-540, May 2025.
This study analyses 29 new Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) patients with BRPF1 variants and reveals a broad phenotypic spectrum, including novel features such as palpebral oedema. It highlights the variability in clinical expression, underlines the importance of ophthalmological assessment and detailed ...
Cindy Colson   +21 more
wiley   +1 more source

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