AI Article Synopsis
- Sjögren-Larsson syndrome (SLS) is a genetic neurocutaneous disorder linked to mutations in the ALDH3A2 gene, leading to symptoms like ichthyosis, mental retardation, and spastic diplegia.
- Researchers have identified over 70 different mutations in the ALDH3A2 gene in SLS patients.
- In this study, two brothers diagnosed with SLS exhibited brain demyelination, and a new homozygous mutation (c. 835 T > A) was found in their genetic analysis.
Article Abstract
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788300 | PMC |
| http://dx.doi.org/10.4103/0972-2327.116927 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cell-cell crosstalk in the pathogenesis of acute lung injury and acute respiratory distress syndrome.
Tissue Barriers
January 2025
Sepsis Translational Medicine Key Laboratory of Hunan Province, Department of Pathophysiology, School of Basic Medicine Science, Central South University, Changsha, Hunan, PR China.
Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) are the result of an exaggerated inflammatory response triggered by a variety of pulmonary and systemic insults. The lung tissues are comprised of a variety of cell types, including alveolar epithelial cells, pulmonary vascular endothelial cells, macrophages, neutrophils, and others. There is mounting evidence that these diverse cell populations within the lung interact to regulate lung inflammation in response to both direct and indirect stimuli.
View Article and Find Full Text PDFUnveiling the Role of TBK1 as a Novel Biomarker in Obstructive Sleep Apnea Syndrome.
Sleep
January 2025
Department of Clinical Nutrition, the Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Thyroid storm presenting with acute respiratory distress syndrome in a postpartum patient: a case report.
Intern Emerg Med
January 2025
Department of Emergency Medicine, Ataturk Sanatoryum Training and Research Hospital, Ankara, Turkey.
Background: To investigate the effectiveness of different bariatric metabolic surgeries in improving metabolic syndrome indicators in patients.
Methods: A retrospective analysis was conducted on obese patients who underwent laparoscopic sleeve gastrectomy (LSG), laparoscopic sleeve gastrectomy + jejunojejunal bypass (LSG + JJB), and laparoscopic Roux-en-Y gastric bypass (LRYGB). Patients were categorized into groups based on their surgical procedure: LSG (N = 199), LSG + JJB (N = 242), and LRYGB (N = 288).
Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
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!