An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.

BACKGROUND: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans. OBJECTIVE: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa. METHODS: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants were recruited from 5 African countries. Additional data were collected from patients positive for the mHtt gene; these included demographics, the presence of psychiatric and (or) cognitive symptoms, family history, spoken languages, and ethnic origin. Additionally, their pedigrees were examined to estimate the number of people at risk of developing HD and to trace back the earliest account of the disease in each region. RESULTS: HD cases were identified in all countries. Overall, 53.4% of patients with chorea were carriers for the mHTT; median tract size was 45 CAG repeats. Of the asymptomatic relatives, 28.6% (6/21) were carriers for the mHTT; median tract size was 40 CAG. No homozygous carries were identified. Median CAG tract size in controls was 17 CAG repeats. Men and women were equally affected by HD. All patients with HD-bar three who were juvenile onset of <21 years-were defined as adult onset (median age of onset was 40 years). HD transmission followed an autosomal dominant pattern in 84.2% (16/19) of HD families. In familial cases, maternal transmission was higher 52.6% (10/19) than paternal transmission 36.8% (7/19). The number of asymptomatic individuals at risk of developing HD was estimated at ten times more than the symptomatic patients. HD could be traced back to the early 1900s in most African sites. HD cases spread over seven ethnic groups belonging to two distinct linguistic lineages separated from each other approximately 54-16 kya ago: Nilo-Sahara and Niger-Congo. CONCLUSION: This is the first study examining HD in multiple sites in sub-Saharan Africa. We demonstrated that HD is found in multiple ethnic groups residing in five sub-Saharan African countries including the first genetically confirmed HD cases from Guinea and Kenya. The prevalence of HD in the African continent, its associated socio-economic impact, and genetic origins need further exploration and reappraisal.

Health equity, care access and quality in headache - part 1.

Current definitions of migraine that are based mainly on clinical characteristics do not account for other patient's features such as those related to an impaired quality of life, due to loss of social life and productivity, and the differences related to the geographical distribution of the disease and cultural misconceptions which tend to underestimate migraine as a psychosocial rather than neurobiological disorder.Global differences definition, care access, and health equity for headache disorders, especially migraine are reported in this paper from a collaborative group of the editorial board members of the Journal of Headache and Pain. Other components that affect patients with migraine, in addition to the impact promoted by the migraine symptoms such as stigma and social determinants, are also reported.

[Antithrombotiques oraux et pronostic après un an des patients atteints de fibrillation auriculaire dans un milieu à ressources limitées]. / Oral antithrombotic therapy and one-year clinical outcomes among patients with atrial fibrillation in resource-limited settings.

BACKGROUND: Atrial fibrillation is associated with increased risk of morbidity and mortality. There's limited data on the outcomes of atrial fibrillation patients in Africa. We aimed at evaluating the clinical outcomes and their associated factors in patients with atrial fibrillation on antithrombotic therapy in Douala. METHODS: The Douala atrial fibrillation registry is a prospective, observational cohort study of patients with atrial fibrillation followed by cardiovascular specialists in 3 specialized care centres. From January to April 2018, all patients with electrocardiographic diagnosis of atrial fibrillation, aged 21 years or older, were included in the registry provided their consent. The composite endpoint of heart failure, stroke, major bleeding, hospitalisation and mortality as well as their individual occurrence were assessed at 12 months. RESULTS: Of 113 participants that were included, 6(5.3%) were lost to follow-up. The mean age was 70 ± 12 years, with a female predominance (68%). After a mean follow-up time of 12.2 ± 0.7 months, 51 patients (47.7%) had at least one outcome. Hospitalisation, all-cause mortality, heart failure, stroke and major bleeding rates were 33.3%, 16.8%, 15.2%, 4.8% and 2.9% respectively. There was no significant difference in the composite outcome and mortality according to the antithrombotic treatment. Previous heart failure [aHR = 3.07, 95% CI (1.48-6.36) p = 0.003], new onset atrial fibrillation [aHR= 4.00, 95% CI (0.96-8.19) p < 0.001] and paroxystic atrial fibrillation [aHR= 3.74, 95% CI (1.33-10.53) p = 0.013] were significant predictors of outcome. CONCLUSION: Half of patients with atrial fibrillation in this registry developed an outcome after one year of follow-up, with heart failure, new onset and paroxystic atrial fibrillation being the main predicting factors. Diagnosing and managing atrial fibrillation in patients with heart disease should therefore be considered as a key priority.

Thoracolumbar spine injury in Cameroon: etiology, management, and outcome.

BACKGROUND: Thoracolumbar spine injury (TLSI) is a major concern worldwide despite its low prevalence. Studies demonstrate a gradual rise in annual incidence. There have been improvements in its management. However, a lot is still to be done. TLSI secondary to trauma usually occurs abruptly and leaves demeaning consequences, especially in our setting where the prognosis from several studies is poor. This study aimed to describe the etiology, management principles, and prognosis of TLSI in Douala General Hospital and as such contribute data on those aspects in the research community. METHOD: This was a hospital-based five-year retrospective study. The study population was patients treated for TLSI in the Douala General Hospital from January 2014 to December 2018. Patients' medical records were used to retrieve data. Data analysis was done using SPSS Version 23. Logistic regression models were fitted to assess the association between dependent and independent variables. Statistical significance was set at 95% CI, with a P-value < 0.05. RESULTS: We studied a total of 70 patients' files including 56 males. The mean age of occurrence of TLSI was 37.59 ± 14.07 years. The most common etiology was road traffic accidents (45.7%) and falls (30.0%). Half of our patients (n = 35) had an incomplete neurological deficit (Frankel B - D). Paraplegia was the most common motor deficit (42.9%). The lumbar spine was affected in 55.7% of cases. The most common CT scan finding was fracture of the vertebrae (30%) while the most reported MRI finding was disc herniation with contusion (38.5%). More than half (51.4%) of our patients were referred from peripheral health centers. The median arrival time was 48 h (IQR: 18-144) with 22.9% reporting after a week post-injury. Less than half (48.1%) benefited from surgery, and 41.4% of our population benefited from in-hospital rehabilitation. The median in-hospital delay time for surgery was 120 h (IQR: 66-192). While the median time between injury and surgery was 188 h (IQR: 144-347). The mortality rate was 5.7% (n = 4). Almost all (86.9%) of the patients developed complications and we had a 61.4% improvement in neurological status upon discharge. Being covered by health insurance was a predictor of improved neurological status (AOR = 15.04, 95%CI:2.90-78.20, P = 0.001) while being referred was a predictor of a stationary neurological status upon discharge (AOR = 0.12, 95%CI:0.03-0.52, P = 0.005). The average hospital stay was 20 days. We did not identify any predictors of lengthy hospital stay. CONCLUSION: Road traffic accident is the most common etiology of TLSI. The arrival time to a neurosurgery specialized center after a traumatic injury, and the in-hospital delay time for surgery is high. Reduction of these delays, encouraging universal health insurance coverage, and improving on management to reduce complications would better the outcome of TLSI which is comparable with those in other studies.

Poststroke Erectile Dysfunction in Cameroon: Prevalence, Associated Factors, and Quality of Life.

BACKGROUND: Stroke is a severe disease due to its morbidity-mortality. It is the first cause of acquired disability including erectile dysfunction (ED). The purpose of this study was to determine the prevalence of ED in stroke patients at the Douala General Hospital, to identify associated factors and to evaluate their quality of life. MATERIALS AND METHODS: A cross-sectional study was conducted over a period of seven months from November 2016 to May 2017 on two groups of patients in neurology, cardiology, and endocrinology units of the Douala General Hospital (Cameroon): stroke patients (stroke+) and nonstroke patients (stroke-). We collected sociodemographic and clinical data using a preestablished questionnaire. Erectile function was assessed using International Index of Erectile Function (IIEF-5). Associated and predictive factors were determined using univariate and multivariate analyses. Results were significant for a p value < 0.05. RESULTS: A total of 269 patients were included, among them 87 stroke+ (32.34%) and 182 stroke- (67.66%) (controlled group). The mean age was 56.37 ± 12.89 years and 57.18 ± 10.24 years of stroke+ and stroke-, respectively (p = 0.608). Prevalence of poststroke ED was 64.4% (OR = 3.41, 95% CI: 1.99-5.82, p < 0.001). The average time of occurrence of the poststroke ED was 5 ± 5.85 months. Diabetes and dyslipidemia were the predictive factors of occurrence of poststroke ED. Depression was found both in stroke+ with ED and stroke+ without ED with no difference (p = 0.131). CONCLUSION: About two-thirds of stroke patients developed ED. Diabetes and dyslipidemia were predictive factors of ED in stroke patients.

Availability of Therapies and Services for Parkinson's Disease in Africa: A Continent-Wide Survey.

BACKGROUND: The growing burden of Parkinson's disease (PD) in Africa necessitates the identification of available therapies and services to improve patient care. OBJECTIVE: To investigate the availability, affordability, frequency of usage, and insurance coverage of PD therapies (pharmacological, surgical, physical, and speech therapies) and services including specialized clinics, specialists, and nurses across Africa. METHODS: A comprehensive web-based survey was constructed and distributed to neurologists/physicians with a special interest in PD across Africa. The survey instrument includes components that address availability, affordability, frequency of use, and insurance coverage of different therapies and services. RESULTS: Responses were received from 28 (of 43 contacted) countries. Levodopa-based oral preparations were always available in 13 countries (46.4%) with variable affordability and "partial or no" insurance coverage in 60% of countries. Bromocriptine was the most available (50%) and affordable ergot dopamine agonists (DA), whereas non-ergot DA was always available in only six countries (21.4%). Trihexyphenidyl was the most available and affordable anticholinergic drug (46.4%). Tricyclic antidepressants and selective serotonin reuptake inhibitors were available in most countries (89.3% and 85.7% respectively), with variable affordability. Quetiapine and clozapine were less available. Specialized clinics and nurses were available in 25% and 7.1% of countries surveyed, respectively. Other services were largely unavailable in the countries surveyed. CONCLUSION: PD-specific therapies and services are largely unavailable and unaffordable in most African countries. The data provide a platform for organizing strategies to initiate or scale up existing services and drive policies aimed at improving access to care and tailoring education programs in Africa. © 2021 International Parkinson and Movement Disorder Society.

Epilepsy surgery in Africa: state of the art and challenges.

OBJECTIVE: Epilepsy is an important public health problem representing 0.6% of the global burden of disease that particularly impacts people living in the lowest income countries where epilepsy incidence may be 10 fold more than in the developed world. The battery of treatments designed to counteract the clinical manifestations of this disease are various and range from a wide spectrum of antiseizure medicationand specific diets, to surgical techniques for resection of the epileptogenic focus. The aim of our study was to describe the State of the art of Epilepsy Surgery (ES) in Africa and examine ways to deal with the high surgical treatment gap. METHODOLOGY: In an observational study, we prospectively disseminated questionnaires via email or directly administered to main epileptologists and neurologists involved in epilepsy care, in key African countries. We also conducted a literature search using PubMed, Google scholar on ES in all the African countries. RESULTS: We received responses from the majority of African countries, which allowed us to identify 3 levels of care for ES in African countries, a first level that uses ES with invasive presurgical evaluation, a second level that uses ES but without invasive presurgical evaluation, and a third level that does not use ES, and we summarized these results on a map. DISCUSSION: This paper studied the availability of ES as a treatment modality in several African countries. We aimed to establish optimal pathways for initiating ES with noninvasive Electroencephalography and readily available investigations. This could be achieved through collaboration with epilepsy programs in developed countries directly or by using telemedicine.

Post-ivermectin encephalopathy in Senegal: a case report.

Ivermectin is an ant parasitic drug used for combating onchocerciasis and lymphatic filariasis. It works by inhibiting the function of neurons and muscles, thus causing paralysis of microfilariae. Side effects of this drug have been reported including post-ivermectin encephalopathy requiring emergency care in hospital. We report the case of a 35 years old patient living in rural areas of Senegal who presented two days after a mistake in administration of a second dose of ivermectin, headaches, altered consciousness and bilateral blindness. The workup revealed brain white matter lesions, abnormal liver function tests and biological inflammation without evidence of Loa loa microfilariae in blood and cerebrospinal fluid. Corticosteroid treatment was administered in emergency and patient recovered despite the persistence of bilateral blindness. Inflammatory process seems to have an important role in the pathophysiology of this encephalopathy. We should therefore carefully control the administration of this drugs.

Superior Foville syndrome due to pontine hemorrhage: a case report.

The Superior Foville Syndrome is a rare clinical feature of stroke or brain hemorrhage. Few cases have been reported worldwide particularly in Africa. We report the case of a 20 years old patient resident in Senegal with no known medical history. He was admitted on August 2015 in the Neurology Department of Fann National Teaching Hospital for an abrupt onset of left body side weakness, acute headaches and rotatory vertigo five days before admission. The physical examination found a superior Foville Syndrome. And the brain CT scan shown hemorrhage at the right inferior part of the pons compressing the fourth ventricle. No cause of this hemorrhage stroke has been found. Superior Foville syndrome is a rare clinical presentation of stroke and presented a rich semiological feature of the posterior cerebral fossa.