A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

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.

Lymphocytic Lymphoma Transforming into Hodgkin Lymphoma in Sub-Saharan Africa: Case Report and Literature Review.

The Hodgkin variant Richter syndrome (HvRS) is an infrequent complication occurring in 1% of lymphocytic lymphoma/chronic lymphocytic leukemia patients. We report a case of HvRS diagnosed in Sub-Saharan Africa. A 63-year-old patient was consulted for the investigation of an abdominal mass that had been evolving for 5 years prior to admission.

Morbidity and Mortality Associated with COVID-19 and Acute Chest Syndrome in Sickle Cell Disease Patients.

SUMMARYCOVID-19 infection has emerged as a comorbidity that can significantly increase morbidity and mortality in sickle cell patients with ACS (acute thoracic/chest syndrome). The aim of our study was to assess COVID-19-related morbidity and mortality in sickle cell patients with ACS. This was a retrospective, descriptive study of patient records followed over a 36-month period from January 2020 to December 2022.

A Case of Rosai-Dorfman Disease Successfully Treated by Corticotherapy.

Rosai-Dorfman disease (RDD) is a benign histiocytic proliferation that results in nodal and extranodal involvements. It is a rare disease, with fewer than 1,000 cases reported in the literature, which explains its lack of knowledge by physicians and the lack of codified therapeutic strategies. We report the case of an 8-year-old girl who presented a rapidly progressive cervical lymph node mass; the diagnosis of RDD was made based on histology and immunohistochemistry.

Homozygous Sickle Cell Disease after Age of 40: Follow-Up of a Cohort of 209 Patients in Senegal, West Africa.

Objectives: The aim of this study was to describe the morbidity and mortality of homozygous sickle cell disease after the age of 40.

Methods: This was a cohort study of 209 patients followed from 1994 to 2022. All hemoglobin electrophoresis-confirmed SS sickle cell patients over 40 years were included.

Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.

Most genome-wide association studies (GWAS) for lipid traits focus on the separate analysis of lipid traits. Moreover, there are limited GWASs evaluating the genetic variants associated with multiple lipid traits in African ancestry. To further identify and localize loci with pleiotropic effects on lipid traits, we conducted a genome-wide meta-analysis, multi-trait analysis of GWAS (MTAG), and multi-trait fine-mapping (flashfm) in 125,000 individuals of African ancestry.

Complexity of Plasmodium falciparum infection and genetic variations associated with differences in parasite clearance time in two Malian villages.

Background: Effective approaches to fight against malaria include disease prevention, an early diagnosis of malaria cases, and rapid management of confirmed cases by treatment with effective antimalarials. Artemisinin-based combination therapies are first-line treatments for uncomplicated malaria in endemic areas. However, cases of resistance to artemisinin have already been described in South-East Asia resulting in prolonged parasite clearance time after treatment.

Evaluation of knowledge of priapism in sickle cell patients in Senegal.

Purpose: Erectile dysfunction is a dreadful complication of priapism especially with delay in diagnosis and management. The lack of awareness of priapism as a vaso-occlusive complication of sickle cell disease (SCD) is more concerning. The objective of this study was to evaluate the burden of priapism in adult Senegalese males adults with sickle cell disease.

[A Case Of Behçet's Disease In A Black Subject In Sikasso, Mali].

Behçet's disease is an autoinflammatory systemic vasculitis of unknown etiology. The literature on this pathology in the black subject is rare. We report the case of a 53-year-old subject with mucocutaneous and ocular manifestation.

[Causes Of Death In The Medicine Department Of The Regional Hospital Of Sikasso].

Unlabelled: The causes of death are of great importance in assessing the health status of the population and care'squality. Their study could guide health policies aimed at increasing life expectancy.

Objectives: It was to determine the causes of death; to study the socio-demographic characteristics of deceased.

Access to Anti-Biofilm Compounds from Endolichenic Fungi Using a Bioguided Networking Screening.

Endolichenic microorganisms represent a new source of bioactive natural compounds. Lichens, resulting from a symbiotic association between algae or cyanobacteria and fungi, constitute an original ecological niche for these microorganisms. Endolichenic fungi inhabiting inside the lichen thallus have been isolated and characterized.

Homozygous sickle cell disease related mortality in Senegal (2011-2020).

Homozygous sickle cell disease (HSCD) is characterized by multiorgan morbidity and an increased risk of early death. We aim to describe the mortality rate, causes, and risk factors of death in HSCD between 2011 and 2020. We conducted a retrospective study with a duration of 10 years in the cohort of 2348 HSCD patients.

Transferability of genetic risk scores in African populations.

The poor transferability of genetic risk scores (GRSs) derived from European ancestry data in diverse populations is a cause of concern. We set out to evaluate whether GRSs derived from data of African American individuals and multiancestry data perform better in sub-Saharan Africa (SSA) compared to European ancestry-derived scores. Using summary statistics from the Million Veteran Program (MVP), we showed that GRSs derived from data of African American individuals enhance polygenic prediction of lipid traits in SSA compared to European and multiancestry scores.

[Sexuality assessment of homozygous adult sickle cell patients with a history of priapism in Senegal].

Objectives: The objective of this study was to evaluate the sexuality of SS sickle cell patients with a history of priapism.

Methods: This was a case-control study of adult SS sickle cell patients. The occurrence of priapism as well as the nature of the priapism had been investigated.

Life-threatening bleeding in patients with hemophilia (PWH): a 10-year cohort study in Dakar, Senegal.

Objective: The aim of this study was to assess incidence, risk factors, treatment and outcome of LTB in Senegalese people with hemophilia (PWH).

Methods: We analyzed the characteristics of LTB in a cohort of 274 PWH after 10 years of follow-up.

Results: We included 274 patients (241 HA and 33 HB).

Differential Incidence of Malaria in Neighboring Villages in a High-Transmission Setting of Southern Mali.

Throughout a phase IIIb/IV efficacy study of repeated treatment with four artemisinin-based combination therapies, significant heterogeneity was found in the number of clinical episodes experienced by individuals during the 2-year follow-up. Several factors, including host, parasite, and environmental factors, may contribute to the differential malaria incidence. We aimed to identify risk factors of malaria incidence in the context of a longitudinal study of the efficacy of different artemisinin-based combination therapy regimens in Bougoula-Hameau, a high-transmission setting in Mali.

Detection, Molecular Identification and Transmission of the Intestinal Protozoa sp. in Guinea from a Large-Scale Epidemiological Study Conducted in the Conakry Area.

sp. is a single-celled parasite estimated to colonize the digestive tract of 1 to 2 billion people worldwide. Although it represents the most frequent intestinal protozoa in human stools, it remains still under-investigated in countries with a high risk of infection due to poor sanitary and hygiene conditions, such as in Africa.

Transfusion Practice, Post-Transfusion Complications and Risk Factors in Sickle Cell Disease in Senegal, West Africa.

Context And Objectives: Blood transfusions (BT) remain a mainstay of therapy for patients with sickle cell disease (SCD) but pose significant clinical challenges. We aim to assess infectious markers, red cell alloimmunization, and iron overload secondary to BT in SCD patients.

Materials And Methods: This case-control study included 253 SCD (153 SCD-transfused and 100 SCD non-transfused).