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.

Impact of a free medication intervention on seizure recurrence and anxious and depressive symptoms in people living with epilepsy in the Republic of Guinea.

BACKGROUND AND OBJECTIVE: Of ~5 million people living with epilepsy (PLWE) in Sub-Saharan Africa, roughly one-third experience depression and over one third experience anxiety. In Guinea, these issues may be compounded by fewer available resources, such as appropriate anti-seizure medications (ASMs). We aim to quantify seizure frequency, anxiety and depression in PLWE in Guinea, before and after a free ASM intervention and neurologist's consultation. METHODS: Guinean participants >12 years old with ≥2 unprovoked seizure were prospectively recruited. As part of a broader interview, participants reported prior 30-day seizure frequency and screened for depression (PHQ-9) (range 0-27 points) and anxiety (GAD-7) (range 0-21 points) with re-evaluation at 90 days. RESULTS: Of 148 participants enrolled (mean age = 27.3 years, range 12-72; 45% female), 62% were currently taking ASMs. For the 30 days pre-enrolment, average seizure frequency was 3.2 (95%CI 2.3, 4.2); 28% of participants were seizure-free. ASM regimens were modified for 95% of participants, mostly initiating levetiracetam (n = 115, 80% of modifications). 90-day study retention was 76% (n = 113) among whom 87% reported full adherence to the ASM. After 90 days, the average seizure frequency over the prior 30 days was 1.5 (95%CI 0.5, 2.6), significantly lower than at baseline (p = 0.002). 66% were seizure-free. At baseline, average PHQ-9 score was 21.2 (95%CI [20.2, 22.2]), indicating severe depressive symptoms. Average GAD-7 score was 16.5 [15.6, 17.4], indicating severe anxious symptoms. At 90-days, average PHQ-9 score was 17.5[16.4, 18.5] and significantly lower than baseline (p < 0.001). Average GAD-7 score was 14.4 [13.6, 15.3] and significantly lower than baseline (p = 0.002). Seizure frequency was not correlated with PHQ-9 nor GAD-7 scores at baseline but was at 90 days for both PHQ-9 (r = 0.24, p = 0.01) and GAD-7 (r = 0.22, p = 0.02) scores. The prevalence of suicidal ideation dropped from 67% to 47% of participants (p = 0.004). DISCUSSION: ASM management has dual importance for PLWE in resource-limited settings, improving both seizure control and mental health.

Lupus Pernio in Chronic Sarcoidosis.

Lupus pernio (LP) is characterized by the association between insidious purpuric or purplish blue lesions localized in the nose, cheeks, lips, and ears and swelling of the fingers and toes. We report a case of chronic sarcoidosis with lupus pernio in a 34-year-old male. The diagnosis of sarcoidosis was made on the basis of clinical data and imaging results and confirmed by skin biopsy, which showed numerous epithelioid granulomas surrounded by a non-caseous inflammatory crown. Treatment with prednisolone was started. It is important to make an early diagnosis to avoid a delay in treatment and worsening of the functional and psychological prognosis.

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome: Clinical and Therapeutic Aspects.

Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome is a rare entity. It is frequently under-detected. We report the case of SAPHO syndrome in a 38-year-old woman, seen in consultation for pain and swelling of the anterior chest wall affecting the sternoclavicular and sternocostal joints predominantly on the right, and low back pain with an inflammatory appearance with peripheral damage, especially in the legs. We also found in our patient episodes of palmoplantar pustulosis. The diagnosis of SAPHO syndrome was retained in accordance with Kahn's diagnostic criteria, and the osteitis was confirmed by morphological examinations (CT scan, MRI, and bone scintigraphy). The patient was treated with non-steroidal anti-inflammatory drugs and methotrexate with good clinical improvement.

Sjögren's syndrome in children: about 15 cases in Guinea Conakry.

OBJECTIVES: Sjögren's syndrome is rare in children and most often secondary. It frequently affects girls and is characterized by dry eye syndrome, mouth and sometimes systemic involvement. Its diagnosis is difficult to establish in children. We report a series of 15 cases of Sjögren's syndrome in order to clarify the peculiarities of this condition in children. PATIENTS AND METHODS: This retrospective study was carried out over a 2-year period focused on children under 16 years of age who had been followed for Sjögren's syndrome in the rheumatology and pediatric departments. Patient data were collected and then analyzed by STATA/SE version 11.2 software. Anonymity and respect for ethical rules were the norm. There was no connection between the patients and the researchers. DESCRIPTION OF CASES: The mean age of the patients was 11 years with extremes of 5-15 years. History reveals that a dry mouth was found in more than half of the cases, or in 10 (66.7%) patients. Clinical examination found oral ulceration and periodontitis in equal proportions, 6 (40%). The immunological workup and the biopsy of the accessory salivary glands served as diagnostic evidence in the 15 patients according to the US-European criteria of 2002. CONCLUSION: Sjögren's syndrome is a rare entity in pediatrics. Its diagnosis is difficult to establish in pediatrics and its severity is linked to the occurrence of late visceral and lymphomatous sicca syndrome. Rapid diagnosis and initiation of a synthetic antimalarial (hydroxychloroquine) increases the hope of a cure.