Results 261 to 270 of about 188,655 (392)

Outcomes for Congenital Diaphragmatic Hernia in Three Decades: A Report From a UK Surgical Centre

open access: yesActa Paediatrica, Volume 115, Issue 1, Page 174-180, January 2026.
ABSTRACT Aims Congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia, pulmonary hypertension and high mortality. Three decades experience from a UK centre is reported. Methods Medical records of CDH newborns between February 1990 and November 2021 and attending a multidisciplinary clinic were examined. Survival and health outcomes are
Wan Teng Lee, Paul D. Losty
wiley   +1 more source

Early Detection of Progressive Adolescent Idiopathic Scoliosis: A Severity Index

open access: yesSpine, 2017
W. Skalli   +7 more
semanticscholar   +1 more source

“It Changed My Perspective”: Embedding Occupational Therapy Within an Early Childhood Education Centre Provides Inclusive Developmental Support and Access to Early Intervention

open access: yesChild: Care, Health and Development, Volume 52, Issue 1, January 2026.
ABSTRACT Background Early intervention (EI) provides critical support to young children with developmental delays, aiming to optimize their development and learning readiness. However, studies have shown that 74% of eligible children never receive a referral for EI services.
Alexis Bedard, Lisa Fyffe
wiley   +1 more source

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

open access: yesClinical Genetics, Volume 109, Issue 1, Page 167-175, January 2026.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad   +20 more
wiley   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, Volume 109, Issue 1, Page 181-187, January 2026.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

open access: yesClinical Genetics, Volume 109, Issue 1, Page 188-193, January 2026.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca   +13 more
wiley   +1 more source

Home - About - Disclaimer - Privacy