Results 51 to 60 of about 21,194 (199)

Beyond conventional anthropometry: Muscle‐related indicators and muscle strength in adults with congenital heart disease: A retrospective study with a comparison group

Nutrition in Clinical Practice, EarlyView.
Abstract Anthropometric characteristics and muscle strength remain insufficiently characterized in adults with congenital heart disease (CHD). The aim of the study was to characterize anthropometric indicators and muscle strength in hospitalized adults with CHD and examine differences according to cardiac lesion complexity. Exploratory comparisons with
Hyan Ribeiro Prudêncio de Sousa, Cláudia Porto Sabino Pinho   +1 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

A 10-year follow-up of therapeutic rehabilitation in a child with LMNA-associated congenital muscular dystrophy: a case report

Journal of the Pakistan Medical Association
Lamin A/C (LMNA)-associated congenital muscular dystrophy (L-CMD) is a rare neuromuscular disorder caused by mutations in the LMNA gene, characterised by droopy head syndrome with motor developmental delays and weakness of the spinal axial and proximal ...
Zhimei Liu, Shuo Zhao, Ziheng Wang, Minhua Chen, Kelong Cai, Kang Yang   +5 more
doaj   +1 more source

A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene

Journal of Biochemical and Clinical Genetics, 2018
Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD ...
Muhsin Elmas, Basak Gogus
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source

Brain MRI Findings in Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
Brain magnetic resonance imaging (MRI) findings in 13 patients with congenital muscular dystrophy (MDCIC) and Fukutin-related protein (FKRP) gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.
J Gordon Millichap
doaj   +1 more source

Incidence of Childhood Dilated Cardiomyopathy in Sweden From 1991 to 2019: A National Population‐Based Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To study the incidence, survival, and mortality of dilated cardiomyopathy (DCM) in children in Sweden, 1991–2019. Methods Hospital records of 0–18‐year‐olds diagnosed with DCM over a 29‐year period were reviewed. The annual sex‐specific incidence rates of DCM were calculated as new disease cases, divided by the average Swedish same‐sex ...
Shalan Fadl, Stefan Särnblad, Tahir Taj, Håkan Wåhlander, Eva Fernlund, Jan Sunnegårdh   +5 more
wiley   +1 more source

Severe CMD with Novel Mutation in Lamin A/C Gene

Pediatric Neurology Briefs, 2010
Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj   +1 more source

Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD), in a study at the Tokyo Women’s Medical University, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source