Publications by authors named "S BAMBA"

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.

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  • *This study focused on the genetic causes of HI in the Malian population through whole exome sequencing, uncovering variants in multiple known HI genes and identifying a novel candidate gene, UBFD1.
  • *Results showed that 75% of the examined families had identifiable causes for HI, with many variants being newly identified and a case of digenic inheritance observed.
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Background 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.

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  • Asymptomatic carriers of Plasmodium falciparum play a crucial role in malaria transmission, prompting a study to assess malaria infection levels among household members of children receiving seasonal malaria chemoprevention (SMC).
  • The study, which involved 745 participants and used various diagnostic tests, found that 26.58% of participants carried asexual forms of the parasite, with the highest prevalence (35.76%) among children aged 5 to 15 years.
  • The ultrasensitive rapid diagnostic test (usRDT) showed greater sensitivity for detecting malaria compared to the standard rapid diagnostic test (rRDT), suggesting that usRDT is more effective for community-based screening and treatment strategies.
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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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