Gastrointest Endosc
December 2024
Background And Aims: Perforation is a rare but serious adverse event associated with endoscopic retrograde cholangiopancreatography (ERCP). There is no consensus to guide clinicians in the management of ERCP-related duodenal perforations, making it difficult to determine whether surgical or endoscopic treatment is optimal. The present study retrospectively evaluated the characteristics and clinical outcomes of patients who experienced ERCP-related duodenal perforations according to the mechanism of injury.
View Article and Find Full Text PDFBackground And Objectives: Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental delay or regression. Their genetic basis remains largely unelucidated, especially in sub-Saharan Africa (SSA). We investigated the genetic bases of DEE in three Malian families.
View Article and Find Full Text PDFParasitol Res
November 2024
Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.
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