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http://dx.doi.org/10.47102/annals-acadmedsg.202252 | DOI Listing |
Turk J Pediatr
September 2025
West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: The α-actinin-4 (ACTN4) gene encodes an actin-binding protein, which plays a crucial role in maintaining the structure and function of podocytes. Previous studies have confirmed that ACTN4 mutations can lead to focal segmental glomerulosclerosis-1 (FSGS1), a rare disease primarily manifesting in adolescence or adulthood, characterized by mild to moderate proteinuria, with some cases progressing slowly to end-stage renal disease.
Case Presentation: We report a 12.
Clin Immunol
September 2025
Department of Experimental Pathology, Immunology, and Microbiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Center
Chronic Granulomatous Disease (CGD) is caused by mutations in the NADPH oxidase complex that impair the ability of phagocytes to eliminate injested pathogens. As a result, patients with CGD suffer from recurrent infections and chronic inflammation. We report the clinical, biochemical, and genetic basis of the disease in 17 CGD patients from Lebanon.
View Article and Find Full Text PDFIntractable Rare Dis Res
August 2025
Endocrinology, SBMS, Faculty of Medicine, The University of Queensland, St Lucia, Australia.
X-linked nephrogenic diabetes insipidus (X-NDI) is a rare congenital disease caused by inactivating mutations of the vasopressin type-2 receptor (), characterized by impaired renal concentrating ability, dramatic polyuria, polydipsia and risk of dehydration. This study aims to elucidate the pathogenic mechanisms associated with a novel variant in the gene, which has been implicated in X-NDI. Whole exome sequencing (WES) was employed to identify genetic variants, complemented by bioinformatic analyses to predict the functional impact of these mutations.
View Article and Find Full Text PDFBMC Genomics
September 2025
Element Biosciences, San Diego, CA, USA.
Background: Hybrid capture is a critical technology for selective enrichment of genomic regions of interest in genomic analysis. Despite its widespread adoption, the core methodology has remained largely unchanged for over 15 years, with traditional workflows involving time-consuming bead-based capture steps, multiple temperature-controlled washes, and post-hybridization PCR. These steps introduce workflow complexity, increase turnaround time, and can negatively impact library complexity and variant calling accuracy.
View Article and Find Full Text PDFInt J Dev Neurosci
October 2025
Department of Neurology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with plexiform neurofibromas occurring in approximately 20%-50% of patients. A 12-year-old girl underwent surgery due to unbearable pain caused by diffuse neurofibromas. Postoperatively, the girl exhibited rapid growth and extremely extensive plexiform neurofibromas, with multiple plexiform neurofibromas that were inoperable.
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