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A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Nephrol Dial Transplant
January 2025
Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFTranscriptional Changes Associated with Amyoplasia.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina 188300, Russia.
Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations.
View Article and Find Full Text PDFClinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
J Neurol
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular Reference Centre, ERN-EURO-NMD, Avenida de Fernando Abril Martorell 106, 46026, Valencia, Spain.
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Challenges and Solutions in Managing Recurrent Distal Tibia Interosseous Osteochondroma: A Case Study and Review of Literature.
J Orthop Case Rep
December 2024
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Rajasthan, India.
Introduction: Osteochondroma, a common benign bone tumor, predominantly affects young individuals, with a higher prevalence in males. It typically manifests as a bony growth capped with cartilage near bone growth plates, often extending away from joints. While most cases are asymptomatic, some may present with pain, swelling, or mechanical complications necessitating surgical intervention.
View Article and Find Full Text PDFClinical Characteristics, Management, and Outcomes of Colitis-Associated Colorectal Cancer and the Comparison With Sporadic Colorectal Cancer in Taiwan.
Clin Transl Gastroenterol
December 2024
Division of Gastroenterology, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Introduction: We explored the clinical characteristics, treatment, and outcomes of colitis-associated colorectal cancer (CAC) and compared with sporadic colorectal cancer in Taiwan.
Methods: In this retrospective study spanning 1987-2022, CACs diagnosed according to endoscopic and pathological reports from 14 tertiary centers were reported to our cohort. Clinical demographics, endoscopic findings, histological results, treatment modalities, and outcomes were analyzed.
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