5 results match your criteria: "Mongi Slim Hospital Marsa[Affiliation]"
Key Clinical Message: Primary hydatid cyst of the thigh is a rare condition requiring prompt recognition and accurate diagnosis for timely management and prevention of complications.
Abstract: Muscular hydatid cysts are rare, with a frequency ranging from 1% to 5% even in endemic areas. The clinical presentation of muscular hydatidosis is typically subtle and lacks specific features, frequently resulting in delayed diagnosis.
Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the gene in the Tunisian population.
View Article and Find Full Text PDFBeckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Mol Genet Genomic Med
October 2021
Department of Congenital and Hereditary Diseases, Mongi Slim Hospital Marsa, Tunis, Tunisia.
Background: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1.
Methods: Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype-phenotype correlations.
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
Clin Rheumatol
February 2020
Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.
Article Synopsis
- - The study investigates a group of patients with axial and extra-axial deceleration, characterized by joint pain, antalgic gait, and spine biomechanical loss, which initially led to misdiagnoses of myopathy and juvenile rheumatoid arthritis.
- - The research involved seven patients of varying ages and included clinical evaluations, imaging studies, and genetic testing that revealed a diagnosis of progressive pseudorheumatoid chondrodysplasia, showing specific skeletal abnormalities and mutations in the WISP3 gene.
- - The findings emphasize the importance of thorough clinical examination and skeletal surveys over myopathic and rheumatologic tests to accurately distinguish between different diagnoses, especially in the context of joint-related conditions.