Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

BACKGROUND: The prevalence of Parkinson's disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan African populations have the potential to reveal novel insights into the pathobiology of PD. In this study, we aimed to characterise the genetic variation in known and novel PD genes in a group of Black South African and Nigerian patients. METHODS: We recruited 33 Black South African and 14 Nigerian PD patients, and screened them for sequence variants in 751 genes using an Ion AmpliSeq™ Neurological Research panel. We used bcftools to filter variants and annovar software for the annotation. Rare variants were prioritised using MetaLR and MetaSVM prediction scores. The effect of a variant on ATP13A2's protein structure was investigated by molecular modelling. RESULTS: We identified 14,655 rare variants with a minor allele frequency ≤ 0.01, which included 2448 missense variants. Notably, no common pathogenic mutations were identified in these patients. Also, none of the known PD-associated mutations were found highlighting the need for more studies in African populations. Altogether, 54 rare variants in 42 genes were considered deleterious and were prioritized, based on MetaLR and MetaSVM scores, for follow-up studies. Protein modelling showed that the S1004R variant in ATP13A2 possibly alters the conformation of the protein. CONCLUSIONS: We identified several rare variants predicted to be deleterious in sub-Saharan Africa PD patients; however, further studies are required to determine the biological effects of these variants and their possible role in PD. Studies such as these are important to elucidate the genetic aetiology of this disorder in patients of African ancestry.

Awareness of stroke risk factors and warning signs in Nigerian adolescents compared with adults.

BACKGROUND: Stroke, a significant health problem affecting adults, is increasing among younger age groups, particularly because of changing lifestyles. The aim of the study was to compare the awareness of stroke risk factors and warning signs among students and teachers in selected secondary schools in Osun State, Nigeria. METHODS: This was a cross-sectional survey involving 703 (589 students and 114 teachers) respondents in selected secondary schools in Osun, Nigeria. Information on the awareness of stroke risk factors and warning signs was collected with the aid of a structured questionnaire. RESULTS: Hypertension (69.4%) was the most commonly identified stroke risk factor, with more teachers (79.8%) identifying correctly than the students (67.4%). Weakness (51.9%) was the most commonly identified warning sign of stroke with more students (53.8%) identifying correctly than the teachers (42.1%). There were significant differences in the awareness of some risk factors (age, obesity, family history, alcohol use, diet, transient ischemic attack, and hyperlipidemia) and warning signs (dizziness, weakness, and vision problems) between students and teachers. Predictors for adequate awareness of risk factors were being a teacher, not being obese and being hypertensive, whereas predictors for adequate awareness of warning signs were stroke in the family and being hypertensive. CONCLUSIONS: There was inadequate awareness of risk factors and warning signs among the respondents with students having better awareness of warning signs and teachers having better awareness of risk factors. Stroke campaigns should emphasize stroke risk factors particularly among adolescents and warning signs in adults. The use of media, particularly television, is recommended.

Awareness of risk factors and warning signs of stroke in a Nigeria university.

BACKGROUND: Rapid access to medical services which is an important predictor of treatment and rehabilitation outcome requires that there is an understanding of stroke risk factors and early warning signs. This study assessed awareness of stroke risk factors and warning signs among students and staff of Obafemi Awolowo University, Nigeria. METHODS: This was a cross sectional survey involving 994 (500 students and 494 staff) respondents. Information on the awareness of stroke risk factors and warning signs was collected with the aid of a structured questionnaire. Descriptive and inferential statistics were used for data analysis. RESULTS: Weakness (66.2%) was the most commonly identified warning sign of stroke with more staff (69.8%) identifying correctly than students (62.6%). Hypertension (83.4%) was the most commonly identified stroke risk factor, with more staff (91.7%) identifying correctly than students (83.2%). There were significant differences (p < 0.05) in the awareness of some risk factors (age, hypertension, stress and obesity), and warning signs (dizziness, numbness, weakness, headache and vision problems) between students and staff. Predictors for adequate awareness of both stroke risk factors and warning signs were younger age, smoking history and higher educational level. CONCLUSIONS: Majority of the respondents recognized individual important stroke risk factors and warning signs, but few recognized multiple stroke risk factors and warning signs. Awareness programs on stroke should be organized, even in communities with educated people to increase public awareness on the prevention of stroke and on the reduction of morbidity in the survivors.

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research.

Parkinson's disease (PD) affects 1-2% of individuals above 60 years amounting to over 7 million people worldwide. Thus, PD has become an important contributor to the neurological disease burden. Nigeria is the most populous country in Africa, and alarmingly, approximately 5.25 million Nigerians are above 65 years and are therefore at risk for developing PD. We carried out a critical review of published literature on PD in Nigeria to summarize the findings and to evaluate gaps in knowledge. Seven electronic databases were searched for studies published in English before 18th July 2018. Search terms were ["Parkinson's disease" OR "Parkinson disease" OR "parkinsonian disorders" OR "Parkinsonism"] AND "Nigeria". A total of 44 articles (including eight reviews) published since 1969 were identified and reviewed. Amongst the original research articles, most (23) were on PD symptoms or prevalence. There were only two studies on genetics and two on environmental factors. The estimated crude prevalence of PD in Nigeria was lower (10-249/100 000) compared to studies published in Europe (65.6-12 500/100 000). Our findings suggest that PD is under-diagnosed in Nigeria. Possible environmental risk factors identified include blacksmithing and well-water contaminated with trace metals. Given the rising numbers of the ageing population in Nigeria, more studies to evaluate the prevalence and causes of PD in this country are urgently needed. To this end, more funding, resources and a workforce of well-trained neurologists and scientists are essential to manage the impending health burden of PD and related disorders in this country.

Effects of wobble board training on weight distribution on the lower extremities of sedentary subjects.

Inequality of weight distribution on the lower extremities affects the posture and gait performance of an individual. The effect of wobble board training on weight distribution on the lower extremities is presently unknown. The purpose of this study was to investigate the effects of a six week wobble board exercise training program on the weight distribution in the lower extremities. Subjects (n = 16) in the wobble board group were trained three times a week for the period of six weeks. The subjects in the control group (n = 13) did not receive any training. Weight distribution symmetry scores improved by 9% and 2% in the wobble board and control groups, respectively, no significant difference was found between the two groups' pre-training weight distribution on the lower extremities. The two-ways repeated analysis of variance revealed a significant F ratio between the two groups (P < 0.001). LSD post hoc analysis showed significant improvements in the symmetry of the weight distribution at the 4th and 6th week of training compared to pre-training value within the wobble board group, while no significant improvement was recorded within the control group. Our findings implied that the wobble board exercise program could be used to improve the symmetry of weight distribution on the lower extremities in sedentary subjects.

Comparative effects of proprioceptive and isometric exercises on pain intensity and difficulty in patients with knee osteoarthritis: A randomised control study.

PURPOSE: The study compared the effects of isometric quadriceps exercise and proprioceptive exercise on pain, joint stiffness and physical difficulties of patients with knee osteoarthritis. SUBJECTS: Forty-five patients with history of knee osteoarthritis were randomly allocated into two groups; A with 23 subjects and B with 22 subjects. METHODS: All subjects received infrared radiation for 20 minutes and kneading massage with methyl salicylate ointment. Group A underwent proprioceptive exercises while Group B had isometric quadriceps exercise. Each exercise session lasted for 10 minutes according to standard protocol, twice in a week for six weeks. Pre-treatment, 3rd week and 6th week pain intensity, joint stiffness and physical difficulties were assessed using Western Ontario McMaster Universities Osteoarthritis Index (WOMAC) questionnaire. Statistical package for social sciences (SPSS) version 17 was used to analyse the data while descriptive and inferential statistics were used to summarise the result. RESULTS: Proprioceptive exercises reduced pain intensity significantly (F = 4.76; p = 0.00) at 6th week with effect size of 2.79, and physical difficulty (F = 3.69; p < 0.04) with effect size of 7.53 better than isometric exercises. There was a significant reduction in the pain intensity (F = 12.08; p < 0.001), and physical difficulties (F = 3.69, p = 0.04) in pre-treatment, 3rd week and 6th week in both Group A and B. CONCLUSION: Both exercises are effective but proprioceptive exercises may be more effective in the management of patients with knee osteoarthritis (KOA) than isometric exercises.