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Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.
Clin Genet
January 2025
Human Molecular Genetics Group, National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, China.
The pathogenicity of cholestatic liver diseases (CLDs) remains insufficiently characterized, hindering definitive diagnosis and timely treatment. The aim of this study was to improve the pathogenicity prediction of novel bile acid (BA) transporter variants in patients with CLDs. We analyzed the clinical characteristics and genetic profiles of a CLD cohort (n = 57) using multiple in silico tools and in vitro functional assays.
View Article and Find Full Text PDFExpanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.
J Pediatr Endocrinol Metab
January 2025
Department of Medical Genetics, Demiroglu Bilim University Faculty of Medicine, Istanbul, Türkiye.
Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.
Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.
Neuromyelitis optica spectrum disorder with ultra-longitudinally extensive transverse myelitis: A case report and literature review.
Heliyon
November 2024
Neurology Department, Central Hospital of Dalian University of Technology(Dalian Municipal Central Hospital), Dalian City, 116000, China.
Article Synopsis
- * A unique case of a patient with NMOSD presented ultra-LETM alongside connective tissue disorders, treated with high-dose medications and a sequence of disease-modifying therapies, leading to significant recovery.
- * Early evaluation of autoimmune diseases and prompt treatment are vital for improving outcomes in NMOSD patients presenting with u-LETM as an initial symptom.
Systemic amyloidosis: an aggressive evolution in a patient with relapsing polychondritis and monoclonal gammopathy of undetermined significance (MGUS) undergoing peritoneal dialysis.
Autops Case Rep
September 2024
Universidade de São Paulo (USP), Faculdade de Medicina, Hospital das Clínicas, Serviço de Reumatologia, São Paulo, SP, Brasil.
Article Synopsis
- A case study of a female patient in her 50s with primary amyloidosis affecting multiple organs, alongside a history of relapsing polychondritis and chronic kidney disease.
- Initial tests were negative for amyloid but a second biopsy confirmed amyloid protein presence as AL-lambda amyloidosis.
- Despite medical interventions, the patient experienced worsening symptoms, eventually leading to ICU admission and death due to pulseless ventricular tachycardia, emphasizing the importance of accurate diagnosis for treatment decisions.
Syphilitic hepatitis in infants, the forgotten disease that hepatologists have to brush up on: from a case series to a revision of literature.
Eur J Pediatr
November 2024
Pediatric Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, IRCCS ISMETT (Mediterranean Institute for Transplantation and Advanced Specialized Therapies), University of Pittsburgh Medical Center, 90127, Palermo, Italy.
Clinical manifestations of congenital syphilis (CS) include liver disease with/without impaired liver function, identified as syphilitic hepatitis. Hepatic involvement may be dramatic; therefore, early diagnosis is crucial to provide treatment and prevent fatal outcomes. A new resurgence of CS cases has been described in recent years worldwide.
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