Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care.
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ABSTRACT:
SUBMITTER: Al-Mousa H
PROVIDER: S-EPMC5483440 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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Project description:We investigated hepatitis C virus (HCV) epidemiology in populations with liver-related diseases (LRDs) in the Middle East and North Africa. The data source was standardized databases of HCV measures populated through systematic reviews. Random-effects meta-analyses and meta-regressions were performed, and genotype diversity was assessed. Analyses were based on 252 HCV antibody prevalence measures, eight viremic rate measures, and 30 genotype measures on 132,358 subjects. Pooled mean prevalence in LRD populations was 58.8% (95% confidence interval [CI], 51.5%-66.0%) in Egypt and 55.8% (95% CI, 49.1%-62.4%) in Pakistan; these values were higher than in other countries, which had a pooled prevalence of only 15.6% (95% CI, 12.4%-19.0%). Mean prevalence was highest in patients with hepatocellular carcinoma at 56.9% (95% CI, 50.2%-63.5%) and those with cirrhosis at 50.4% (95% CI, 40.8%-60.0%). Type of LRD population and country were the strongest predictors of prevalence, explaining 48.6% of the variation. No evidence for prevalence decline was found, but there was strong evidence for prevalence increase in Pakistan. A strong, positive association was identified between prevalence in the general population and that in LRD populations; the Pearson correlation coefficient ranged between 0.605 and 0.862. The pooled mean viremic rate was 75.5% (95% CI, 61.0%-87.6%). Genotype 4 was most common (44.2%), followed by genotype 3 (34.5%), genotype 1 (17.0%), genotype 2 (3.5%), genotype 6 (0.5%), and genotype 5 (0.3%). Conclusion: HCV appears to play a dominant role in liver diseases in Egypt and Pakistan and has a growing role in Pakistan. Testing and treatment of LRD populations are essential to reduce disease burden and transmission and to reach HCV elimination by 2030.
| S-EPMC7109336 | biostudies-literature
Project description:BackgroundTunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.MethodWe report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.ResultsWe identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic epidermolysis bullosa and xeroderma pigmentosa.ConclusionThis report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.
| S-EPMC3495028 | biostudies-literature
Project description:BackgroundThe HIV-1 spread in the Middle East and North Africa (MENA) has not been previously characterised using the phylogenetic approach. The aim of the current study was to investigate the genetic diversity and domestic transmission of HIV-1 in the MENA.MethodsA total of 2036 HIV-1 sequences available in Genbank and collected in the MENA during 1988-2016 were used together with 715 HIV-1 reference sequences that were retrieved from Genbank based on genetic similarity with the MENA sequences. The REGA and COMET tools were used to determine HIV-1 subtypes and circulating recombinant forms. Maximum Likelihood and Bayesian phylogenetic analyses were used to identify and date HIV-1 transmission clusters.ResultsAt least 21 HIV-1 subtypes and recombinant forms were prevalent in the MENA. Subtype B was the most common variant (39%), followed by CRF35_AD (19%) and CRF02_AG (14%). The most common genetic region was pol, and 675 partial pol sequences (average of 1005 bp) were eligible for detailed phylogenetic analysis. Fifty-four percent of the MENA sequences formed HIV-1 transmission clusters. Whereas numerous clusters were country-specific, some clusters indicated transmission links between countries for subtypes B, C and CRF02_AG. This was more common in North Africa compared with the Middle East (p < 0.001). Recombinant forms had a larger proportion of clustering compared to pure subtypes (p < 0.001). The largest MENA clusters dated back to 1991 (an Algerian CRF06_cpx cluster of 43 sequences) and 2002 (a Tunisian CRF02_AG cluster of 48 sequences).ConclusionsWe found an extensive HIV-1 diversity in the MENA and a high proportion of sequences in transmission clusters. This study highlights the need for preventive measures in the MENA to limit HIV-1 spread in this region.
| S-EPMC5506879 | biostudies-literature
Project description:PurposeThe Middle East and North Africa (MENA) region registers some of the lowest serum 25‑hydroxyvitamin D [25(OH)D] concentrations, worldwide. We describe the prevalence and the risk factors for hypovitaminosis D, completed and ongoing clinical trials, and available guidelines for vitamin D supplementation in this region.MethodsThis review is an update of previous reviews published by our group in 2013 for observational studies, and in 2015 for randomized controlled trials (RCTs) from the region. We conducted a comprehensive search in Medline, PubMed, and Embase, and the Cochrane Library, using MeSH terms and keywords relevant to vitamin D, vitamin D deficiency, and the MENA region, for the period 2012-2017 for observational studies, and 2015-2017 for RCTs. We included large cross-sectional studies with at least 100 subjects/study, and RCTs with at least 50 participants per arm.ResultsWe identified 41 observational studies. The prevalence of hypovitaminosis D, defined as a 25‑hydroxyvitamin D [25(OH)D] level below the desirable level of 20 ng/ml, ranged between 12-96% in children and adolescents, and 54-90% in pregnant women. In adults, it ranged between 44 and 96%, and the mean 25(OH)D varied between 11 and 20 ng/ml. In general, significant predictors of low 25(OH)D levels were female gender, increasing age and body mass index, veiling, winter season, use of sun screens, lower socioeconomic status, and higher latitude.We retrieved 14 RCTs comparing supplementation to control or placebo, published during the period 2015-2017: 2 in children, 8 in adults, and 4 in pregnant women. In children and adolescents, a vitamin D dose of 1000-2000 IU/d was needed to maintain serum 25(OH)D level at target. In adults and pregnant women, the increment in 25(OH)D level was inversely proportional to the dose, ranging between 0.9 and 3 ng/ml per 100 IU/d for doses ≤2000 IU/d, and between 0.1 and 0.6 ng/ml per 100 IU/d for doses ≥3000 IU/d. While the effect of vitamin D supplementation on glycemic indices is still controversial in adults, vitamin D supplementation may be protective against gestational diabetes mellitus in pregnant women. In the only identified study in the elderly, there was no significant difference between 600 IU/day and 3750 IU/day doses on bone mineral density. We did not identify any fracture studies.The available vitamin D guidelines in the region are based on expert opinion, with recommended doses between 400 and 2000 IU/d, depending on the age category, and country.ConclusionHypovitaminosis D is prevalent in the MENA region, and doses of 1000-2000 IU/d may be necessary to reach a desirable 25(OH)D level of 20 ng/ml. Studies assessing the effect of such doses of vitamin D on major outcomes, and confirming their long term safety, are needed.
| S-EPMC6020111 | biostudies-literature
Project description:Background:More than 5.5 million Syrian refugees have fled violence and settled in mostly urban environments in neighboring countries. The Middle East and North Africa (MENA) region accounts for 6% of the global population but 25% of the population are 'of concern' to the UN Refugee Agency. In addition to large amounts of forced migration, the region is also undergoing an epidemiologic transition towards a heavier burden of noncommunicable diseases (NCDs), which in 2018 accounted for 74% of all deaths in the region. To address NCD needs globally, a myriad of policies and interventions have been implemented in low-income stable country settings. However, little is known about which policies and interventions are currently being implemented or are best suited for refugee hosting countries across the Middle East and North Africa. Methods:A scoping review of peer-reviewed literature was conducted to identify policies and interventions implemented in the Middle East and North Africa to address the needs of urban refugees with noncommunicable diseases. Results:This scoping review identified 11 studies from Jordan, Lebanon, Iran, West Bank, Gaza and Syria. These studies addressed three foci of extant work, (1) innovative financing for expensive treatments, (2) improvements to access and quality of treatment and, (3) efforts to prevent new diagnoses and secondary complications. All interventions targeted refugee populations including Palestinians, Sudanese, Syrians, Afghans and Iraqis. Discussion:The scoping review highlighted five key findings. First, very few studies focused on the prevention of noncommunicable diseases among displaced populations. Second, several interventions made use of health information technologies, including electronic medical records and mHealth applications for patients. Third, the vast majority of publications were solely focused on tackling NCDs through primary care efforts. Fourth, the literature was very sparse in regard to national policy development, and instead favored interventions by NGOs and UN agencies. Last, the perspectives of refugees were notably absent. Conclusion:Opportunities exist to prioritize prevention efforts, scale up eHealth interventions, expand access to secondary and tertiary services, address the scarcity of research on national policy, and incorporate the perspectives of affected persons in the broader discourse.
| S-EPMC7029555 | biostudies-literature
Project description:BackgroundThe zoonotic parasite Taenia saginata utilizes bovines as an intermediate host (causing cysticercosis) and humans as the definitive host (causing taeniosis). The public health burden of T. saginata is assumed to be low, but the economic burden is large, due to the resources utilized in the detection and condemnation of infected carcasses and carcass parts. As part of a collaborative effort to synthesize worldwide epidemiological data on this parasite, we present here the results of a systematic review on the distribution of T. saginata taeniosis and bovine cysticercosis in the Middle East and North Africa (MENA).MethodsInformation on the occurrence and prevalence of T. saginata taeniosis and cysticercosis in the MENA region was obtained through a systematic review of published and grey literature, including OIE reports, published between January 1st, 1990 and December 31st, 2017.ResultsA total of 63 publications were retrieved across the 21 MENA countries. Taenia saginata taeniosis was reported in 11 of these countries, whereas unspecified taeniosis was reported for a further seven. Microscopy-based prevalence values ranged between 0.02-8.6%. Bovine cysticercosis prevalence estimates based on meat inspection were only reported for Egypt and Israel, with prevalence data ranging between 0.2-20% and 0.1-9.1% for cattle and buffaloes, respectively. The presence of bovine cysticercosis could be confirmed for 10 additional countries through OIE reports.ConclusionsHuman taeniosis occurrence was confirmed for 86% (18/21) of the countries in the MENA region, although in several of these countries the species responsible was not specified. Religious prohibitions on the consumption of pork and the limited extent of pig farming across much of this region, however, suggest that many reported taeniosis cases are likely to be attributable to T. saginata rather than Taenia solium or Taenia asiatica. There was a paucity of data regarding both the prevalence and economic impact of bovine cysticercosis. More detailed epidemiological data on both T. saginata taeniosis and bovine cysticercosis could be obtained by adopting an integrated "One Health" approach, considering the characteristics (e.g. ecosystem related and sociopolitical aspects) of the MENA region. Compared with more conventional approaches, this could lead to an enhanced performance and cost-effectiveness of surveillance systems.
| S-EPMC6419812 | biostudies-literature
Project description:Implementing vaccination programmes at the national level is key to managing vaccine-preventable diseases (VPDs) in the overall population. Although paediatric immunization programmes have significantly reduced the burden of VPD, disease burden in adults still poses a substantial challenge, particularly in low- and middle-income countries such as those within the Middle East and North Africa (MENA) region. Invasive bacterial diseases (IBDs) are an important public health concern within this region, although vaccines are available to prevent the three most common causative organisms associated with IBD: Neisseria meningitidis (NM), Streptococcus pneumoniae (SP), and Haemophilus influenzae (HI). For this review, three separate PubMed searches were used to identify English-language publications describing the epidemiology of NM, SP, and HI in adults within the MENA region. Of the 161 total publications retrieved among all 3 literature searches, 39 were included in this review (NM: 8 publications; SP: 27 publications; HI: 4 publications). Publications describing epidemiology in paediatric or overall populations were excluded. Overall, these studies generally observed a high burden of IBD among adults in this region. Although NM, SP, and HI are communicable diseases in several countries, the surveillance systems in the MENA region are largely inadequate, resulting in poor responses to outbreaks and hindering improvement in outcomes of communicable diseases. Improving IBD surveillance would provide necessary estimates of disease burden, resulting in better vaccination strategies and improved outcomes. In conclusion, the present review provides a summary of the available information on the epidemiology of vaccine-preventable IBD in adults within the MENA region and highlights the need for increased disease surveillance and preventive strategies in these countries.
| S-EPMC7983355 | biostudies-literature
Project description:High body mass index (BMI), or excess body weight (EBW), represents a significant risk factor for a range of diseases, including cardiovascular diseases and cancers. The study sought to determine the burden of diseases attributable to EBW in the Middle East and North Africa (MENA) region from 1990 and 2019. The analysis also included an exploration of this burden by age, sex, underlying cause, and sociodemographic index (SDI). We utilized publicly available data from the Global Burden of Disease (GBD) study 2019 to identify the deaths and disability-adjusted life-years (DALYs) of diseases associated with EBW in MENA, spanning the period from 1990 to 2019. The GBD estimated the mean BMI and the prevalence of EBW using hierarchical mixed-effects regression, followed by spatiotemporal Gaussian process regression to determine the most accurate BMI distribution through comparison with actual data. In 2019, there were an estimated 538.4 thousand deaths (95% UI 369.9-712.3) and 17.9 million DALYs (12.9-23.1) attributable to EBW in the region. The DALYs attributable to EBW were higher in men (9.3 million [6.5-12.4]) than in women (8.5 million [6.4-10.8]). The age-standardized death and DALY rates for the diseases associated with EBW increased by 5.1% (- 9.0-25.9) and 8.3% (- 6.5-28.8), respectively, during the study period which was not significant. Egypt had the highest age-standardized mortality rate due to EBW (217.7 [140.0, 307.8]), while Yemen (88.6 [45.9, 143.5]) had the lowest. In 2019, the highest number of DALYs occurred among individuals aged 60 to 64 years old. Furthermore, we found a positive association between a nation's SDI and the age-standardized DALY rate linked to EBW. Cardiovascular disease emerged as the leading contributor to the EBW burden in MENA. The disease burden attributable to EBW showed a non-significant increase in MENA from 1990 to 2019.
| S-EPMC10663478 | biostudies-literature
Project description:BACKGROUND:Donor countries in the Middle East and North Africa (MENA) including Saudi Arabia, Kuwait and United Arab Emirates (UAE) have been among the largest donors in the world. However, little is known about their contributions for health. In this study, we addressed this gap by estimating the amount of development assistance for health (DAH) contributed by MENA country donors from 2000 to 2017. METHODS:We tracked DAH provided and received by the MENA region leveraging publicly available development assistance data in the Development Assistance Committee (DAC) database of the Organisation for Economic Co-operation and Development (OECD), government agency reports and financial statements from key international development agencies. We generated estimates of DAH provided by the three largest donor countries in the MENA region (UAE, Kuwait, Saudi Arabia) and compared contributions to their relative gross domestic product (GDP) and government spending; We captured DAH contributions by other MENA country governments (Egypt, Iran, Qatar, Turkey, etc.) disbursed through multilateral agencies. Additionally, we compared DAH contributed from and provided to the MENA region. RESULTS:In 2017, DAH contributed by the MENA region reached $514.8 million. While UAE ($220.1 million, 43.2%), Saudi Arabia ($177.3 million, 34.8%) and Kuwait ($59.8 million, 11.6%) as sources contributed the majority of DAH in 2017, 58.5% of total DAH from MENA was disbursed through their bilateral agencies, 12.0% through the World Health Organization (WHO) and 3.3% through other United Nations agencies. 44.8% of DAH contributions from MENA was directed to health system strengthening/sector-wide approaches. Relative to their GDP and government spending, DAH level fluctuated across 2000 to 2017 but UAE and Saudi Arabia indicated increasing trends. While considering all MENA countries as recipients, only 10.5% of DAH received by MENA countries were from MENA donors in 2017. CONCLUSION:MENA country donors especially UAE, Saudi Arabia and Kuwait have been providing substantial amount of DAH, channeled through their bilateral agencies, WHO and other multilateral agencies, with a prioritized focus on health system strengthening. DAH from the MENA region has been increasing for the past decade and could lend itself to important contributions for the region and the globe.
| S-EPMC7001325 | biostudies-literature
Project description:BackgroundDengue virus (DENV) infection is widespread and its disease burden has increased in past decades. However, little is known about the epidemiology of dengue in the Middle East and North Africa (MENA).Methodology / principal findingsFollowing Cochrane Collaboration guidelines and reporting our findings following PRISMA guidelines, we systematically reviewed available records across MENA describing dengue occurrence in humans (prevalence studies, incidence studies, and outbreak reports), occurrence of suitable vectors (Aedes aegypti and Aedes albopictus), and DENV vector infection rates. We identified 105 human prevalence measures in 13 of 24 MENA countries; 81 outbreaks reported from 9 countries from 1941-2015; and reports of Ae. aegypti and/or Ae. albopictus occurrence in 15 countries. The majority of seroprevalence studies were reported from the Red Sea region and Pakistan, with multiple studies indicating >20% DENV seroprevalence in general populations (median 25%, range 0-62%) in these subregions. Fifty percent of these studies were conducted prior to 1990. Multiple studies utilized assays susceptible to serologic cross-reactions and 5% of seroprevalence studies utilized viral neutralization testing. There was considerable heterogeneity in study design and outbreak reporting, as well as variability in subregional study coverage, study populations, and laboratory methods used for diagnosis.Conclusions / significanceDENV seroprevalence in the MENA is high among some populations in the Red Sea region and Pakistan, while recent outbreaks in these subregions suggest increasing incidence of DENV which may be driven by a variety of ecologic and social factors. However, there is insufficient study coverage to draw conclusions about Aedes or DENV presence in multiple MENA countries. These findings illustrate the epidemiology of DENV in the MENA while revealing priorities for DENV surveillance and Aedes control.
| S-EPMC5142774 | biostudies-literature