Outcomes for Congenital Diaphragmatic Hernia in Three Decades: A Report From a UK Surgical Centre
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
Radiographic characterization and predictive modeling of functional scoliosis secondary to leg length discrepancy in adolescents. [PDF]
Huang Y +8 more
europepmc +1 more source
Early Detection of Progressive Adolescent Idiopathic Scoliosis: A Severity Index
W. Skalli +7 more
semanticscholar +1 more source
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
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Preoperative Halo Traction Versus Direct Posterior Fusion in Severe Adolescent Idiopathic Scoliosis: A Comparative Study. [PDF]
Popescu MB +6 more
europepmc +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
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
Submucosal tunneling endoscopic septum division for Zenker's diverticulum in a patient with scoliosis and stent impaction. [PDF]
Xiang ZY, Fan L, Lin SL, Ma L, Zhou PH.
europepmc +1 more source
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
Validation and Cultural Adaptation of the Polish Version of the 24-Item Early Onset Scoliosis Questionnaire (EOSQ-24). [PDF]
Kinel E +6 more
europepmc +1 more source
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
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

