Explore the vast range of titles available.

Background Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C). Objectives To pinpoint which clinical signs and symptoms best discriminate between FGF14  + from FGF14  − patients at symptoms’ onset. Methods Twenty SCA27B (≥ 250 GAA repeat expansion) patients were retrospectively matched by gender and age at disease onset with 20 negative FGF14 (−) LOCA patients and with 20 MSA-C patients. Clinical features were ranked based on their contribution towards distinguishing between the groups (feature importance ranking). Results SCA27B patients had significantly higher rates of episodic symptoms, cerebellar oculomotor signs, dysdiadochokinesia, and alcohol intolerance than LOCA- FGF14  − ataxia patients. The lack of autonomic symptoms and MRI signs in SCA27B patients were the most discriminating features from MSA-C. An AUC of 0.87 was obtained if using the “top 3 clinical features model” (episodic symptoms, cerebellar oculomotor signs and dysdiadochokinesia) to distinguish SCAB27 from LCOA FGF14  − . Regarding MRI findings, no significant differences were found between SCA27B and FGF14  − patients, while a positive hot cross buns sign and the presence of brainstem atrophy were key distinguishing features between SCA27B from MSA-C patients ( p  < 0.005). Conclusion Our pilot case–control study contributes to the identification of early clinical symptoms to differentiate SCA27B to LOCA patients including FGF14 - and MSA-C ones. From a feature perspective, while clinical features are crucial, identifying surrogate biomarkers—such as ocular or gait parameters—could aid in the early diagnosis and follow-up of SCA27B patients.

Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa. We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients. This study supports the hypothesis that HDL2 may be widely spread across Africa. We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.

Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets. Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.

Le dihydrogène, communément appelé « hydrogène », figure au premier rang des solutions identifiées pour atteindre la neutralité carbone. À ce jour, c’est toute une palette de couleurs, aussi riche qu’un arc-en-ciel, qui est utilisée pour le catégoriser selon son empreinte carbone et sa valeur environnementale (vert, bleu, etc.). Une couleur dont on ne parle que trop peu, c’est l’hydrogène blanc, aussi appelée « gold hydrogen », ou encore « hydrogène naturel », voire « hydrogène natif ».L’hydrogène naturel est une nouvelle source d’énergie primaire renouvelable, qui permet d’accélérer l’atteinte des objectifs climatiques mondiaux.À l’origine de cette découverte, faite au Mali, Hydroma Inc., la société canadienne de l’entrepreneur malien, Aliou Diallo, qui a su faire preuve de résilience et d’innovation dans un contexte sécuritaire et sous-régional complexe.Dans cet article, nous retraçons le chemin parcouru, de la découverte de l’hydrogène naturel jusqu’à son usage dans l’unité pilote de Bourakebougou. Nous présentons également les enjeux et les perspectives de cette découverte pour le continent africain et la transition énergétique. Dihydrogen, commonly known as ‟hydrogen”, is at the forefront of solutions identified to achieve carbon neutrality. To date, a whole palette of colors, as rich as a rainbow, is used to categorize it according to its carbon footprint and its environmental value (green, blue, etc.). One color that is not talked about enough is white hydrogen, also called ‟gold hydrogen”, or natural hydrogen, or even native hydrogen.Natural hydrogen is a new source of renewable primary energy, which can accelerate the achievement of global climate goals.This discovery was made in Mali by Hydroma Inc., the Canadian company of Malian entrepreneur Aliou Diallo, who has demonstrated resilience and innovation in a complex security and sub-regional context.In this article, we retrace the journey from the discovery of natural hydrogen to its use in the Bourakebougou pilot plant. We also present the challenges and prospects of this discovery for the African continent and the energy transition.

Introduction/Aims Charcot‐Marie‐Tooth disease (CMT), the most common inherited peripheral neuropathy, is clinically and genetically heterogeneous with over 100 genes identified to date. Recently, next‐generation sequencing (NGS) has enabled molecular diagnosis in previously unidentified CMT cases. However, less progress has been achieved in sub‐Saharan African (SSA) populations. We report rare CMT variants found in four unrelated Malian families. Methods Patients went through a thorough neurological examination and Nerve Conduction Studies (NCS) were performed. DNA was extracted for genetic analysis (CMT gene panel testing and whole‐exome/genome sequencing). Putative variants were confirmed with Sanger sequencing and segregation was checked in all available family members. Deleteriousness was checked using several in silico prediction tools and protein modeling. Results Nine patients (three males and six females) from four families were enrolled. The mean age at onset and diagnosis were 15 and 22.7 years, respectively (ranges: 3 to 55 years, and 12 to 58 years). Walking difficulty was the first symptom commonly reported. Neurological examination found distal muscle weakness and wasting with sensory loss, reduced tendon reflexes, and skeletal deformities. In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features. NCS was consistent with the axonal pattern in three families. Genetic analysis revealed rare pathogenic variants in BSCL2, SH3TC2, and PEX10, and of unknown significance in BAG3. Discussion This study reports rare variants in these CMT genes for the first time in SSA populations, expanding the global epidemiological, clinical, and genetic spectrum of these diseases.

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. Methods After obtaining consent, three affected siblings and their relatives underwent physical examinations by specialists and laboratory tests where possible. DNA was extracted from peripheral blood for genetic testing, including Whole Exome Sequencing (WES). Putative variants were confirmed through Sanger Sequencing and assessed for pathogenicity using in silico tools. Results The three siblings and their healthy parents, from a consanguineous marriage, presented with early‐onset progressive muscle weakness, walking difficulty, proximal motor deficits, severe muscle atrophy, hypotonia, skeletal deformities, joint hyperlaxity, ankyloses at the elbows and knees, keloid scars and dental crowding. No cardiac involvement was detected and creatine kinase (CK) levels were normal. All had low serum calcium levels, treated with oral supplements. Needle myography indicated myopathic patterns. WES identified a novel splice site variant in the first intron of COL6A1 (c.98‐1G>C), which segregated with the disease within the family. This variant is predicted to cause exon 2 skipping in COL6A1, with a high CADD score of 33 and Splice AI predicting it as deleterious. Conclusion We identified a novel COL6A1 variant in a consanguineous family, highlighting the need for further studies in larger African cohorts to enhance genetic epidemiology and prepare for future therapeutic research. A novel homozygous splice site variant in COL6A1 causing Ullrich congenital muscular dystrophy in a Malian family, emphasizing the importance of genetic studies in African cohorts to advance epidemiological knowledge and therapeutic development.

People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. A cross-sectional, case-control study was conducted in sequential recruitment phases (July 2024-July 2025) at Ignace Deen Hospital, Conakry. Adult (≥ 18 years) PWE enrolled consecutively, excluding those with a seizure within the past 24 h. Controls were healthy adults accompanying PWE at the hospital. Cognitive status was assessed with the Montreal Cognitive Assessment (MoCA) in French or translated into the patient's preferred language (Pular, Susu, Maninka, Kissi) as needed. We enrolled 100 PWE (mean age 30.4 years, range 18-71, SD = 12.0) and 100 controls (mean age 39.4 years, range 19-70, SD = 12.3). Although 93% of PWE had previously used anti-seizure medications (ASMs), only 85% were currently receiving treatment and 50% reported interrupted access to ASMs, primarily due to cost barriers. The mean MoCA score of controls (21.8, SD = 4.9) was higher than that of PWE (17.9, SD = 6.1; mean difference -4.2, 95% CI [-5.6, -2.8], SE = 0.69, p < 0.001), adjusted for education level, sex, age, and language. Participants who attended lower secondary, upper secondary, or university education scored 4.9, 5.3, and 8.3 points higher, respectively, than those with no school or primary education (all p < 0.001). Speaking an indigenous language was on average associated with a 2.5-point decline in MoCA scores (95% CI [-3.8, -1.2], SE = 0.65, p < 0.001). PWE in Guinea demonstrated significantly lower cognitive performance on the MoCA compared to healthy controls, even after adjusting for covariates.

ObjectivesThis study aims to identify the factors influencing vaccine hesitancy, willingness and its variation over time in order to inform more responsive strategies for increasing vaccination uptake. The specific objectives are: (1) to describe and compare levels of COVID-19 vaccine hesitancy among the general population in rural and urban settings in West Africa over time and (2) to identify factors associated with COVID-19 vaccination willingness and hesitancy among the general population across five West African countries over time.DesignFollowing a baseline survey (Wave I), three serial cross-sectional surveys (Waves II-IV) were implemented.SettingThe study was conducted in Burkina Faso, Guinea, Mali, Senegal and Sierra Leone from November 2021 to July 2022.ParticipantsA total of 13 571 study participants were included in the study (n=4373, n=4593 and n=4605 for survey Waves II, III and IV, respectively). Inclusion criteria were being 18 years or older, living in the study area and willing to provide informed consent. A two-stage sampling strategy was used to select the sample from among the general population.Primary and secondary outcomesPrimary outcomes were the variability of vaccine hesitancy over time and across the five West African countries. Secondary outcomes were factors associated with vaccine willingness.ResultsA small but steady increase in hesitancy to COVID-19-vaccination can be observed across countries, with an upward trend of vaccine hesitancy reported by 952 participants (33.9 %) in Wave II, 1055 (37.3%) in Wave III and 1089 (38.1%) in Wave IV. Among the countries included, Senegal shows the highest level of vaccine hesitancy (‘Definitely no’ and ‘Probably no’ ranging from 50.2% to 56.0% and 26.2 to 28.3%, respectively). At the same time, Senegal has the lowest vaccination coverage overall. Across all five countries and survey waves, the primary factor associated with vaccination willingness is fear of experiencing severe COVID-19 disease (Wave II: OR 0.42, 95% CI 0.34 to 0.51, Wave III: OR 0.48, 95% CI 0.40 to 0.59 and Wave IV: OR 0.54, 95% CI 0.44 to 0.66). Perceived improved financial status seems to influence willingness to get vaccinated negatively (OR 0.57, 95% CI 0.40 to 0.81) and unlike in Western, Educated, Industrialised, Rich and Democratic countries, men seem more reluctant to get vaccinated than women (OR 0.77, 95%, CI 0.65 to 0.93).ConclusionsOur findings suggest that vaccine hesitancy should be monitored over time to inform communication strategies, which are responsive to changes in vaccination-related public sentiments. Additionally, a focus on social solidarity and the importance of women in vaccination advocacy can help improve COVID-19 vaccination coverage in West Africa.Trial registration numberThe general protocol is registered on clinicaltrial.gov (protocol number: NCT04912284).

Death certification provides reliable epidemiological data that are essential for public health decision-making. Implementing an electronic death certificate improves data quality, accuracy, and timeliness. Recognizing its importance, we developed and integrated a mortality management module into the hospital \"Le Luxembourg,\" enhancing mortality data collection and utilization. This implementation aimed to improve the completeness and accuracy of mortality data, accelerate the timeliness of death reporting, and facilitate the downstream use of data to inform public health planning and research. We began by analyzing the existing infrastructure and organizational setup within the hospital. Through a series of interviews, we identified the needs of all users, enabling the design of a module suited to all levels of operation. We implemented a module comprising multiple functionalities, including certificate editing, validation, storage, mortality statistics generation. It also integrates ICD-10 coding and follows the World Health Organization (WHO) model, while remaining adapted to the hospital's specific context. To ensure optimal usability, we assembled a project team that included a mortality audit committee. After implementation, all users received training and continuous direct technical support was provided. We developed a new death certificate model in line with WHO recommendations. Access to the certificate is secured by a unique username and password. To improve data quality, the certification process involves several validation steps: initial recording, which can be modified when the medical section is not completed by a senior physician; pre-validation by the senior physician and final validation by the mortality audit committee. The chain of morbid events is documented using ICD-10 diagnoses. Beyond the certificate itself, the system also allows for civil registration of the death. Moreover, the module can generate statistics based on multiple criteria. This process takes place with the involvement and active engagement of all stakeholders. We established a unique, secure, WHO-compliant death certificate model that ensures high-quality, easily exploitable, and well-archived data. The experience of this hospital may serve as a foundation for scaling up this model to other healthcare facilities within the country.

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. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.