[Vitamin D Deficiency In Advanced Breast Cancer Risk In Mali].

Aims: The aim of this study was to determine the association between vitamin D deficiency and advanced BC in a Malian women population.

Methods: This is a prospective cross-sectional study, conducted during 4 months, from August 2021 to November 2021. The assays were performed on immunodiagnostic and biochemistry devices in Rodolphe Merieux Laboratory.

[Inflammatory Breast Cancers: Epidemiological Aspects At The Gabriel Touré University Hospital In Bamako, Mali].

Introduction: Inflammatory breast cancer (IBC) is very rare worldwide. The objectives of the present study were to determine the frequency, to describe the socio-demographic and clinical characteristics according to the type of CIS (primary and secondary), and to establish the prognosis.

Method: We conducted a retrospective cohort study in the Gynecology-Obstetrics unit of CHU Gabriel Touré (2015 - 2021).

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.

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.

Background And Objectives: Progressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients with PME from Mali, a country in sub-Saharan Africa highly underrepresented in genetic and genomic research.

Methods: Participants were carefully examined and phenotyped.

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty.

[Hospital frequency of non-epileptic psychogenic seizures in Bamako].

Diagnosing a non-epileptic seizure is difficult in the absence of a video electroencephalogram. The expert commission of the international league against epilepsy proposes a diagnostic approach allowing the diagnosis to be made according to a degree of certainty with or in the absence of a video electroencephalogram. Our objective was to determine the hospital frequency of psychogenic non-epileptic seizures in the absence of video-electroencephalogram.

[Squamous cell carcinoma of the male perineum: a case report].

Squamous cell carcinoma of the male perineum is exceptional. We report the case of a 42-year-old patient with no previous medical history, presenting with pelvic discomfort lasting for 4 months. The patient was treated for perineal abscess in a health centre in Bamako.

Determining the Minimum Dataset for Surgical Patients in Africa: A Delphi Study.

Background: It is often difficult for clinicians in African low- and middle-income countries middle-income countries to access useful aggregated data to identify areas for quality improvement. The aim of this Delphi study was to develop a standardised perioperative dataset for use in a registry.

Methods: A Delphi method was followed to achieve consensus on the data points to include in a minimum perioperative dataset.

[Hospital epidemiology of psychiatric disorders in Mali].

Introduction: in Mali, there are no data on the prevalence of mental disorders. The purpose of this study was to describe the clinical and epidemiological features of patients hospitalised in the Department of Psychiatry.

Methods: we conducted a cross-sectional study in the Department of Psychiatry at the University Hospital of Point G between January 2014 and December 2018.

[Factors associated with mental disorders in the psychiatric department of the university hospital centre of Point G in Mali.].

Introduction: Mental health is a state of equilibrium and well-being, any alteration of which leads to the appearance of a state of distress and/or mental disorder.

Objective: The objective of this work was to study familial and environmental factors associated with mental disorders.

Materials And Methods: A cross-sectional study was conducted in the Psychiatry Department of the Point G University Hospital Center from April 1, 2016 to March 31, 2017 among outpatients with a psychiatric disorder in whom factors associated with psychiatric disorders were studied.

Neuropsychiatric and socio-cultural aspects in a Malian family with spinocerebellar ataxia.

Introduction: Spino-cerebellar ataxia or SCA are dominant neurological diseases caused by mutations in several genes. According to social and cultural contexts, especially in populations with low education level, the advent of such diseases might generate other kinds of suffering beside those caused by the physical impairment and disability. The aim of this work was to determine the impact of this disease in patients and their relatives.

[Summary Of Admissions To The Bamako Dermatology Hospital].

Objective: It was to take stock of the dermatological conditions managed within the hospital over a period of five years.

Patients And Methods: Retrospective and descriptive study performed from January 2015 to December 2019 at the Bamako Dermatology Hospital, based on the records of patients received in consultation.

Results: During the period, 6,322 new consultations were recorded.

[Indications and anomalies of extended electrocardiogram recording (24 hours) at the Gabriel Toure university hospital in Bamako].

Aim: To specify indications and main anomalies of the 24 hours electrocardiogram in Bamako.

Methodology: The study was retrospective and conducted from 1st January 2008 to 31st July 2013, on patients whose file comprised a readable recording holter. The Holter recordings were analyzed by the software synetec (syneview 2) of ELA medical.