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Effects of miRNAs in inborn error of metabolism and treatment strategies.
Postgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFCase Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFThe Complexities of Sepsis-Induced Cardiomyopathy: A Clinical Case and Review of Inflammatory Pathways and Potential Therapeutic Targets.
Cureus
December 2024
Internal Medicine, Kempegowda Institute of Medical Sciences, Bangalore, IND.
Sepsis-induced cardiomyopathy (SICM) is a life-threatening complication of sepsis characterized by myocardial dysfunction. SICM significantly increases mortality rates in sepsis. Despite its clinical relevance, SICM lacks a unified definition and standardized diagnostic criteria, complicating early identification and treatment.
View Article and Find Full Text PDFEffects of chemoradiotherapy on surface PD-L1 expression in esophageal cancer and its implications for immunotherapy.
Front Immunol
December 2024
Translational Radiobiology Lab, Department of Radiotherapy and Radiation Oncology, University Medical Center Göttingen, Göttingen, Germany.
Background: Esophageal cancer has a poor prognosis despite treatment advancements. Although the benefit of neoadjuvant chemoradiotherapy (CRT) followed by adjuvant immunotherapy is evident, the effects of CRT on PD-L1 expression in esophageal cancer are not well understood. This study examines the impact of neoadjuvant CRT on PD-L1 surface expression in esophageal cancer both and considering its implications for immunotherapy.
View Article and Find Full Text PDFTreatment of idiopathic scoliosis with conservative methods based on exercises: a systematic review and meta-analysis.
Front Sports Act Living
December 2024
Faculty of Sports and Physical Education, University of Novi Sad, Novi Sad, Serbia.
Introduction: This systematic review and meta-analysis aimed to systematically assess the effect size of conservative methods based on exercise for respondents with idiopathic scoliosis.
Methods: This study was developed in accordance with the PRISMA guidelines. The PubMed, Cochrane Library, Web of Science, and Google Scholar databases were searched in May 2023.
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