Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.

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.

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 rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian.

Sporadic thyrotoxic periodic paralysis (TPP) is a rare muscle disorder that manifests with abrupt muscle weakness and hypokalemia associated with hyperthyroidism. It is mostly reported in the Asian population, and rare in Caucasians. Only few cases have been reported in people with black ancestry.

High frequency of antimicrobial resistance in Salmonella and Escherichia coli causing diarrheal diseases at the Yirimadio community health facility, Mali.

Background: Diarrhoea is a public health problem, especially in developing countries where it is the second leading cause of child mortality. In Low Income Countries like in Mali, self-medication and inappropriate use of antibiotics due to the scarcity of complementary diagnostic systems can lead to the development of multidrug-resistant bacteria causing diarrhoea. The objective of this work was to determine the microorganisms responsible for diarrhoea in children under 15 years of age and to characterize their sensitivity to a panel of antibiotics used in a peri-urban community in Mali.

Increasing the uptake of Intermittent Preventive Treatment of malaria in pregnancy using Sulfadoxine-Pyrimethamine (IPTp-SP) through seasonal malaria chemoprevention channel delivery: protocol of a multicenter cluster randomized implementation trial in Mali and Burkina Faso.

Background: The uptake of Intermittent Preventive Treatment of malaria in pregnancy using Sulfadoxine-Pyrimethamine (IPTp-SP) remains unacceptably low, with more than two-thirds of pregnant women in sub-Saharan Africa still not accessing the three or more doses recommended by the World Health Organisation (WHO). In contrast, the coverage of Seasonal Malaria Chemoprevention (SMC), a more recent strategy recommended by the WHO for malaria prevention in children under five years living in Sahelian countries with seasonal transmission, including Mali and Burkina-Faso, is high (up to 90%). We hypothesized that IPTp-SP delivery to pregnant women through SMC alongside antenatal care (ANC) will increase IPTp-SP coverage, boost ANC attendance, and increase public health impact.

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.

[Internally displaced persons in Mali facing the COVID 19 pandemic: A qualitative study].

Introduction: The COVID-19 pandemic has exacerbated an already existing security crisis leading to massive population displacements that have been taking place since 2012.

Purpose Of Research: This study aims to explore the representations of internally displaced persons (IDPs) about the existence of COVID-19 and their knowledge about its signs, symptoms, modes of transmission and prevention measures.

Methods: The study was qualitative and exploratory.

Integrating GIS and remote sensing for land use/land cover mapping and groundwater potential assessment for climate-smart cocoa irrigation in Ghana.

Although Ghana is a leading global cocoa producer, its production and yield have experienced declines in recent years due to various factors, including long-term climate change such as increasing temperatures and changing rainfall patterns, as well as drought events. With the increasing exposure of cocoa-producing regions to extreme weather events, the vulnerability of cocoa production is also expected to rise. Supplemental irrigation for cocoa farmers has emerged as a viable adaptation strategy to ensure a consistent water supply and enhance yield.

"Our interventions are still here to support communities during the pandemic": Resuming mass drug administration for neglected tropical diseases after COVID-19 implementation delays.

The COVID-19 pandemic disrupted essential health services, including those provided by national neglected tropical disease (NTD) programs. Most mass drug administration (MDA) programs were postponed for 6-12 months following World Health Organization guidance released in April 2020 to temporarily halt NTD programs and launch necessary COVID-19 precautions. While NTD-endemic countries have since resumed MDA activities, it is critical to understand implementers' perspectives on the key challenges and opportunities for program relaunch, as these insights are critical for maximizing gains towards disease control and elimination during public health emergencies.

[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.

Intravenous Immunoglobulin: Mechanism of Action in Autoimmune and Inflammatory Conditions.

Intravenous immunoglobulin (IVIG) is the mainstay of therapy for humoral immune deficiencies and numerous inflammatory disorders. Although the use of IVIG may be supplanted by several targeted therapies to cytokines, the ability of polyclonal normal IgG to act as an effector molecule as well as a regulatory molecule is a clear example of the polyfunctionality of IVIG. This article will address the mechanism of action of IVIG in a number of important conditions that are otherwise resistant to treatment.

[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"].

Background: Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.

Objectives: We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.

Methods: After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G".

Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination.

Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect.

Patients And Method: We have conducted a longitudinal and prospective study from January 2018 to December 2020.

Contextual determinants of mass drug administration performance: Modelling fourteen years of lymphatic filariasis treatments in West Africa.

Background: Effective mass drug administration (MDA) is the cornerstone in the elimination of lymphatic filariasis (LF) and a critical component in combatting all neglected tropical diseases for which preventative chemotherapy is recommended (PC-NTDs). Despite its importance, MDA coverage, however defined, is rarely investigated systematically across time and geography. Most commonly, investigations into coverage react to unsatisfactory outcomes and tend to focus on a single year and health district.

Insights into tablet sticking: a quantitative case study with an ibuprofen and methocarbamol-based formulation.

Objectives And Methods: Tablet sticking is a continuous accumulation of pharmaceutical powder onto tooling surfaces during compression. Its occurrence greatly impacts tablet productivity, quality attributes, and tooling age. In a previous study, the authors proposed a multivariate data analysis approach to gain insights into tablet sticking directly on the industrial stage.

A multivariate data analysis approach to tablet sticking on an industrial scale: a qualitative case study of an ibuprofen-based formulation.

Objectives: Sticking is one of the most common and damaging issues that occur during tablet manufacturing. Sticking is the adhesion of powder onto tooling surfaces during compression. Because of the numerous factors involved in its occurrence, understanding tablet sticking requires the simultaneous investigation of these factors to clarify their possible interactions.

No evidence of lymphatic filariasis transmission in Bamako urban setting after three mass drug administration rounds.

Lymphatic filariasis (LF) elimination activities started in Mali in 2005 in the most endemic areas and reached countrywide coverage in 2009. In 2004, the district of Bamako was endemic for LF with a prevalence of 1.5%.

[Epidemiological and tomodensitometric aspects of post-traumatic maxillofacial fractures in Mopti, Mali].

Introduction: facial injuries are a public health problem, both physically and psychologically, characterized by a variety of injuries and sometimes by severe esthetic or functional sequelae. The purpose of this study was to describe the epidemiological and tomodensitometric aspects of maxillofacial fractures in Mopti.

Methods: we conducted a cross-sectional and descriptive study in the Department of Radiology of the Mopti Hospital from January 2019 to December 2019.

Challenges and difficulties in implementing and adopting isolation and quarantine measures among internally displaced people during the COVID-19 pandemic in Mali (161/250).

Introduction: Isolation and quarantine are among the key measures that protect internally displaced people (IDPs) against COVID-19. This study aims to identify the challenges encountered by humanitarian actors, and health, political, and administrative stakeholders in implementing these measures. It also describes the difficulties faced by IDPs when adopting them, and the local initiatives developed to overcome those difficulties.

[Role of helical computed tomography in petrous bone trauma: about 12 cases at the University Hospital Ibn Rochd of Casablanca].

Temporal bone injuries occur in 14-22% of skull fractures occurring due to head trauma. The purpose of this study is to understand the role of helical computed tomography in petrous bone trauma and to show the different types of fractures and the associated lesions. We conducted a retrospective study of 12 patients with petrous bone trauma (including 10 men and 2 women) over a period of 14 months.

Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa.

[Role Of Imaging In The Management Of A Case Of Intrauterine Device Migration].

We report a case of intrauterine device (IUD) migration in order to describe the contribution of imaging in its diagnosis. It was a 35-year-old woman received on 06/01/2018 for pelvic ultrasound for pelvic pain. Ultrasound examination revealed a hyperechoic right para-uterine tubular image.