Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/ibd/izy089 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Asymptomatic HyperCKemia in the Pediatric Population: A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests.
Neurology
January 2025
From the U763 (P.M., N.M., I.A., T.S., J.J.V.), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Madrid; Neuromuscular Research Group (P.M., I.P.C., N.M., I.A., L.F., R.V., T.S., J.J.V.), IIS La Fe; Neuromuscular Referral Center ERN-EURO-NMD (I.P.C.), Neuropediatric Department, UIP La Fe Hospital; Neuromuscular Referral Center ERN-EURO-NMD (N.M., T.S.), Neurology Department, UIP La Fe Hospital, Valencia; and Department of Medicine (N.M., T.S., J.J.V.), Universitat de Valencia, Spain.
Article Synopsis
- - The study focuses on diagnosing asymptomatic hyperCKemia in pediatric patients using next-generation sequencing (NGS) and other diagnostic tools, as genetic myopathies are often linked to elevated creatine kinase levels.
- - Conducted on 65 patients, the study found that NGS successfully diagnosed 55% of cases, with seven specific genes frequently showing pathogenic variants, while muscle biopsies were crucial for identifying myopathologic features.
- - The research highlighted the effectiveness of EMG in revealing myopathic features in 48% of cases, although some diagnostic challenges remained, with 14% and 29% of diagnoses being inconclusive.
Rare skin manifestation of juvenile dermatomyositis: peri-orbital oedema and facial swelling.
Paediatr Int Child Health
November 2024
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Article Synopsis
- Juvenile dermatomyositis (JDM) is an autoimmune disease that typically causes muscle weakness and distinctive skin symptoms, but less common presentations can occur.
- A case is presented of a 7-year-old boy with rare symptoms of peri-orbital edema and facial swelling, alongside cholestasis and cytopenia, without initial muscle weakness.
- After developing muscle weakness and receiving a muscle biopsy that confirmed inflammatory myopathy, he was successfully treated and showed no further physical or skin issues after 14 months, highlighting the challenges of diagnosing atypical JDM symptoms.
A founder mutation in causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
JIMD Rep
July 2024
Genetic & Developmental Medicine Clinic, Department of Genetics Sultan Qaboos University Hospital Muscat Oman.
Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.
View Article and Find Full Text PDFPhenotypic spectrum of inclusion body myositis.
Clin Exp Rheumatol
February 2024
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Inclusion body myositis (IBM) is a progressive, debilitating muscle disease commonly encountered in patients over the age of 50. IBM typically presents with asymmetric, painless, progressive weakness and atrophy of deep finger flexors and/or quadriceps muscle. Many patients with IBM develop dysphagia.
View Article and Find Full Text PDFdeletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis.
Front Neurol
January 2024
Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked dilated cardiomyopathy is also caused by mutations. Males carrying deletions with absent or very mild phenotypes have been sparsely described.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!