scholarly journals Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Emmanuel Quansah ◽  
Thomas K. Karikari
Keyword(s):  
Motor Neuron ◽  
Muscular Atrophy ◽  
Clinical Care ◽  
Treatment Options ◽  
Molecular Genetic ◽  
Population Based ◽  
Sub Saharan Africa ◽  
Motor Neuron Diseases ◽  
African Populations ◽  
Sub Saharan

Motor neuron diseases (MNDs) are devastating neurological diseases that are characterised by gradual degeneration and death of motor neurons. Major types of MNDs include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). These diseases are incurable, with limited disease-modifying treatment options. In order to improve MND-based biomedical research, drug development, and clinical care, population-based studies will be important. These studies, especially among less-studied populations, might identify novel factors controlling disease susceptibility and resistance. To evaluate progress in MND research in Africa, we examined the published literature on MNDs in Sub-Saharan Africa to identify disease prevalence, genetic factors, and other risk factors. Our findings indicate that the amount of research evidence on MNDs in Sub-Saharan Africa is scanty; molecular and genetics-based studies are particularly lacking. While only a few genetic studies were identified, these studies strongly suggest that there appear to be population-specific causes of MNDs among Africans. MND genetic underpinnings vary among different African populations and also between African and non-African populations. Further studies, especially molecular, genetic and genomic studies, will be required to advance our understanding of MND biology among African populations. Insights from these studies would help to improve the timeliness and accuracy of clinical diagnosis and treatment.

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

2018 ◽  
Vol 19 (1) ◽  
pp. 149-175
Author(s):  
Amanda Krause ◽  
Heather Seymour ◽  
Michèle Ramsay
Keyword(s):  
Molecular Genetic ◽  
Black Families ◽  
Oculocutaneous Albinism ◽  
Sub Saharan Africa ◽  
Founder Mutations ◽  
Monogenic Diseases ◽  
African Populations ◽  
Clinical Consequences ◽  
Sub Saharan ◽  
Almost All

This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost all different from the common mutations observed in non-African populations. Myotonic dystrophy is curiously absent among Africans, and nonsyndromic deafness does not arise from mutations in GJB2 and GJB7. Locus heterogeneity is present for Huntington disease, with two common triplet expansion loci in Africa, HTT and JPH3. These findings have important clinical consequences for diagnosis, treatment, and genetic counseling in affected families. We currently have just a glimpse of the molecular etiology of monogenic diseases in sub-Saharan Africa, a proverbial “ears of the hippo” situation.

scholarly journals Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maria A. Barceló ◽  
Mònica Povedano ◽  
Juan F. Vázquez-Costa ◽  
Álvaro Franquet ◽  
Marta Solans ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Muscular Atrophy ◽  
Population Based ◽  
Motor Neuron Diseases ◽  
Spanish Regions ◽  
Confounding Variables ◽  
The Individual ◽  
Primary Lateral ◽  
Lateral Sclerosis ◽  
Part Model

AbstractAccording to the degree of upper and lower motor neuron degeneration, motor neuron diseases (MND) can be categorized into amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) or progressive muscular atrophy (PMA). Although several studies have addressed the prevalence and incidence of ALS, there is a high heterogeneity in their results. Besides this, neither concept has been previously studied in PLS or PMA. Thus, the objective of this study was to estimate the prevalence and incidence of MND, (distinguishing ALS, PLS and PMA), in the Spanish regions of Catalonia and Valencia in the period 2011–2019. Two population-based Spanish cohorts were used, one from Catalonia and the other from Valencia. Given that the samples that comprised both cohorts were not random, i.e., leading to a selection bias, we used a two-part model in which both the individual and contextual observed and unobserved confounding variables are controlled for, along with the spatial and temporal dependence. The prevalence of MND was estimated to be between 3.990 and 6.334 per 100,000 inhabitants (ALS between 3.248 and 5.120; PMA between 0.065 and 0.634; and PLS between 0.046 and 1.896), and the incidence between 1.682 and 2.165 per 100,000 person-years for MND (ALS between 1.351 and 1.754; PMA between 0.225 and 0.628; and PLS between 0.409–0.544). Results were similar in the two regions and did not differ from those previously reported for ALS, suggesting that the proposed method is robust and that neither region presents differential risk or protective factors.

scholarly journals Model Systems of Motor Neuron Diseases As a Platform for Studying Pathogenic Mechanisms and Searching for Therapeutic Agents

Acta Naturae ◽  
2015 ◽  
Vol 7 (1) ◽  
pp. 19-36 ◽  
Author(s):  
K. R. Valetdinova ◽  
S. P. Medvedev ◽  
S. M. Zakian
Keyword(s):  
Stem Cells ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Molecular Genetic ◽  
Embryonic Stem ◽  
Deep Understanding ◽  
Therapeutic Agents ◽  
Model Systems ◽  
Hereditary Diseases ◽  
Motor Neuron Diseases

Over the past 30 years, many molecular genetic mechanisms underlying motor neuron diseases (MNDs) have been discovered and studied. Among these diseases, amyotrophic lateral sclerosis (ALS), which causes the progressive degeneration and death of central and peripheral motor neurons, and spinal muscular atrophy (SMA), which is one of the inherited diseases that prevail among hereditary diseases in the pattern of child mortality, hold a special place. These diseases, like most nerve, neurodegenerative, and psychiatric diseases, cannot be treated appropriately at present. Artificial model systems, especially those that are based on the use of embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), are of paramount importance in searching for adequate therapeutic agents, as well as for a deep understanding of the MND pathogenesis. This review is mainly focused on the recent advance in the development of and research into cell and animal models of ALS and SMA. The main issues concerning the use of cellular technologies in biomedical applications are also described.

scholarly journals Cervical cancer in Sub‐Saharan Africa: a multinational population‐based cohort study on patterns and guideline adherence of care

2021 ◽  
Author(s):  
Mirko Griesel ◽  
Tobias P Seraphin ◽  
Nikolaus CS Mezger ◽  
Lucia Hämmerl ◽  
Jana Feuchtner ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Cohort Study ◽  
Guideline Adherence ◽  
Population Based ◽  
Sub Saharan Africa ◽  
Sub Saharan

scholarly journals Factors associated with oral cavity cancers in Sub-Saharan Africa: Summary of the literature

2021 ◽  
Vol 1 (2) ◽  
pp. 34-41
Author(s):  
A Dieng ◽  
AD Faye ◽  
MM Ndiaye ◽  
G Diop ◽  
A Bouazé ◽  
...  
Keyword(s):  
Oral Cavity ◽  
Public Health Problem ◽  
Epidemiological Data ◽  
Sub Saharan Africa ◽  
Factors Associated ◽  
Manual Search ◽  
African Populations ◽  
Localization Strategy ◽  
Sub Saharan ◽  
Oral Cavity Cancers

INTRODUCTION: Oral cavity cancers are now a public health problem according to WHO epidemiological data. There are several risk factors or factors associated with cancers of the oral cavity but they vary according to geographic regions. OBJECTIVE: The objective of this study was to identify factors associated with cancers of the oral cavity in Sub-Saharan African populations through a systematic literature review. METHODOLOGY: Using the data available for the period from January 1980 to December 2019, a synthesis of the literature was carried out. The literature localization strategy included an electronic search of the MEDLINE, EMBASE and GOOGLE SCHOLAR databases from 1980 to 2019 and a manual search of the list of references of articles identified by snowballing. The data were extracted independently by two researchers on an Excel© spreadsheet. Parameters collected from each study were author, country, type of study, period of study, size, age, gender, and factors studied. RESULTS: Out of 1,318 articles found, 24 were selected. The data contained 17,290 patients including 8,229 men, i.e. a male / female sex-ratio of 0.91. Factors studied were tobacco, alcohol, diet, infection, genetics and social factors. CONCLUSION: The results reported showed that several factors are associated with the occurrence of oral cavity cancers in Sub-Saharan Africa. There is a need to conduct further studies with more structured methodologies for more convincing results.

scholarly journals Estimating the timing of multiple admixture pulses during local ancestry inference

2018 ◽  
Author(s):  
Paloma Medina ◽  
Bryan Thornlow ◽  
Rasmus Nielsen ◽  
Russell Corbett-Detig
Keyword(s):  
Biological Process ◽  
Genetic Material ◽  
Simulated Data ◽  
Sub Saharan Africa ◽  
African Populations ◽  
Fundamental Biological Process ◽  
Admixed Population ◽  
Sub Saharan ◽  
Local Ancestry Inference ◽  
Admixture Event

ABSTRACTAdmixture, the mixing of genetically distinct populations, is increasingly recognized as a fundamental biological process. One major goal of admixture analyses is to estimate the timing of admixture events. Whereas most methods today can only detect the most recent admixture event, here we present coalescent theory and associated software that can be used to estimate the timing of multiple admixture events in an admixed population. We extensively validate this approach and evaluate the conditions under which it can succesfully distinguish one from two-pulse admixture models. We apply our approach to real and simulated data of Drosophila melanogaster. We find evidence of a single very recent pulse of cosmopolitan ancestry contributing to African populations as well as evidence for more ancient admixture among genetically differentiated populations in sub-Saharan Africa. These results suggest our method can quantify complex admixture histories involving genetic material introduced by multiple discrete admixture pulses. The new method facilitates the exploration of admixture and its contribution to adaptation, ecological divergence, and speciation.

scholarly journals Parkinson’s disease – a review of pathogenesis, recent advances in management, and challenges of care in sub-Saharan Africa

2021 ◽  
pp. e35
Author(s):  
Akintomiwa I. Makanjuola ◽  
Funmilola T. Taiwo ◽  
Joseph O. Yaria ◽  
Rufus O. Akinyemi ◽  
Adesola Ogunniyi
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Treatment Options ◽  
Sub Saharan Africa ◽  
Treatment Modalities ◽  
Unequal Distribution ◽  
Low Resource Settings ◽  
Low Resource ◽  
Recent Advances ◽  
Sub Saharan

Parkinson’s disease (PD) remains a common neurodegenerative movement disorder with significant morbidity, which is expected to increase worldwide in the coming decades. Since its initial description, much has been elucidated about its etiology, pathogenesis, and the role of genetic and environmental risk factors. Effective treatments, including surgical therapies, have been discovered. Despite these strides, many questions remain unanswered; PD remains an active research area with ongoing efforts to discover newer treatment modalities and identify neuroprotective strategies. As with many neurological conditions, there is an unequal distribution of health resources, resulting in some management challenges in low resource settings, especially sub-Saharan Africa (SSA). In this communication, we provide an overview of PD etiopathogenesis, including genetics and management strategies, including some recent advances with respect to treatment options and disease modification approaches. Finally, we discuss some challenges of PD management in low-resource settings and highlight efforts to turn the tide.

scholarly journals Cohort profile: The Chikwawa lung health cohort; a population-based observational non-communicable respiratory disease study in Malawi

2020 ◽  
Author(s):  
Martin Njoroge ◽  
Sarah Rylance ◽  
Rebecca Nightingale ◽  
Stephen Gordon ◽  
Kevin Mortimer ◽  
...  
Keyword(s):  
Health Economic ◽  
Lung Function ◽  
Low Income ◽  
Respiratory Symptoms ◽  
Population Based ◽  
Sub Saharan Africa ◽  
Rural Setting ◽  
Sub Saharan ◽  
Lung Health

AbstractPurposeThe Chikwawa lung health cohort was established in rural Malawi in 2014 to prospectively determine the prevalence and causes of lung disease amongst the general population of adults living in a low-income rural setting in Sub-Saharan Africa.ParticipantsA total of 1481 participants were randomly identified and recruited in 2014 for the baseline study. We collected data on demographic, socio-economic status, respiratory symptoms and potentially relevant exposures such as smoking, household fuels, environmental exposures, occupational history/exposures, dietary intake, healthcare utilization, cost (medication, outpatient visits and inpatient admissions) and productivity losses. Spirometry was performed to assess lung function. At baseline, 56.9% of the participants were female, a mean age of 43.8 (SD:17.8) and mean body mass index (BMI) of 21.6 Kg/m2 (SD: 3.46)Findings to dateCurrently, two studies have been published. The first reported the prevalence of chronic respiratory symptoms (13.6%, 95% confidence interval [CI], 11.9 – 15.4), spirometric obstruction (8.7%, 95% CI, 7.0 – 10.7), and spirometric restriction (34.8%, 95% CI, 31.7 – 38.0). The second reported annual decline in forced expiratory volume in one second [FEV1] of 30.9mL/year (95% CI: 21.6 to 40.1) and forced vital capacity [FVC] by 38.3 mL/year (95% CI: 28.5 to 48.1).Future plansThe ongoing current phase of follow-up will determine the annual rate of decline in lung function as measured through spirometry, and relate this to morbidity, mortality and economic cost of airflow obstruction and restriction. Population-based mathematical models will be developed driven by the empirical data from the cohort and national population data for Malawi to assess the effects of interventions and programmes to address the lung burden in Malawi. The present follow-up study started in 2019.Strengths and limitations of this studyThis is an original cohort study comprising adults randomly identified in a low-income Sub-Saharan African Setting.The repeated follow up of the cohort has included objective measures of lung function.The cohort has had high rates of case ascertainment that include verbal autopsies.The study will include an analysis of the health economic consequences of rate of change of lung function and health economic modelling of impact of lung diseases and potential interventions that could be adopted.A main limitation of our study is the systematic bias may be introduced through the self-selection of the participants who agreed to take part in the study to date and the migration of individuals from Chikwawa.

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