scholarly journals Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1820
Author(s):  
Nessrine Mezzi ◽  
Olfa Messaoud ◽  
Rahma Mkaouar ◽  
Nadia Zitouna ◽  
Safa Romdhane ◽  
...  

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

2020 ◽  
Vol 65 (7-8) ◽  
pp. 63-70
Author(s):  
B. S. Belov ◽  
R. M. Balabanova

Currently, the problem of reactive arthritis (ReA) retains its importance due to the fairly high prevalence of the disease, primarily in Russia. Analysis of epidemiological data allows us to put forward a number of possible reasons explaining the different frequency of ReA in certain regions of the Russian Federation and in other countries. The lecture describes the clinical picture of the disease, as well as analyzes the significance of various laboratory techniques aimed at identifying the causative agent of ReA. The Russian diagnostic criteria for ReA are presented. The main approaches to the therapy of ReA are outlined with an emphasis on the use of antimicrobial drugs. The effectiveness and safety of drug immunocorrection (inducers of interferon, polyoxidonium, immunofan, etc.) in the treatment of urogenital chlamydia in patients with ReA have not been confirmed by data from randomized controlled trials.


2020 ◽  
Vol 16 (7) ◽  
pp. 1015-1027
Author(s):  
Mohammad Bagherniya ◽  
Zahra Khorasanchi ◽  
Mina S. Bidokhti ◽  
Gordon A. Ferns ◽  
Mitra Rezaei ◽  
...  

Background: Vitamin D deficiency is a common medical condition worldwide. In Iran, it has been reported that between 30-90% of people have vitamin D deficiency. However, its distribution in different parts of the country and among different age and regional groups is unclear. Therefore, the aim of this study was to review the recent literature on vitamin D deficiency in Iran. Methods: The literature review was performed using Web of Science, PubMed-Medline, Scopus and Scientific Information Database (SID) with a cut-off date of November 2016 to identify articles on vitamin D status in Iran published in the last 10 years. Studies in English and Persian that reported vitamin D levels in male and female subjects of all age groups and in healthy populations were included. Results: From 325 studies that were initially retrieved, 82 articles met the inclusion criteria. A high prevalence of vitamin D deficiency was reported, and in some regions, this was reported as >90% and was found in all age groups and in all regions of Iran. Conclusion: This review highlights the very high prevalence of vitamin D deficiency in Iran. It will be important to recognize the importance of vitamin D deficiency as a major public health problem in Iran.


2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Juan C. Gabaldón-Figueira ◽  
Carlos Chaccour ◽  
Jorge Moreno ◽  
Maria Villegas ◽  
Leopoldo Villegas

Abstract Background Fifty-three percent of all cases of malaria in the Americas in 2019 came from Venezuela, where the epidemic is heavily focused south of the Orinoco river, and where most of the country’s Amerindian groups live. Although the disease is known to represent a significant public health problem among these populations, little epidemiological data exists on the subject. This study aims to provide information on malaria incidence, geospatial clustering, and risk factors associated to Plasmodium falciparum infection among these groups. Methods This is a descriptive study based on the analysis of published and unpublished programmatic data collected by Venezuelan health authorities and non-government organizations between 2014 and 2018. The Annual Parasite Index among indigenous groups (API-i) in municipalities of three states (Amazonas, Bolivar, and Sucre) were calculated and compared using the Kruskal Wallis test, risk factors for Plasmodium falciparum infection were identified via binomial logistic regression and maps were constructed to identify clusters of malaria cases among indigenous patients via Moran’s I and Getis-Ord’s hot spot analysis. Results 116,097 cases of malaria in Amerindian groups were registered during the study period. An increasing trend was observed between 2014 and 2016 but reverted in 2018. Malaria incidence remains higher than in 2014 and hot spots were identified in the three states, although more importantly in the south of Bolivar. Most cases (73.3%) were caused by Plasmodium vivax, but the Hoti, Yanomami, and Eñepa indigenous groups presented higher odds for infection with Plasmodium falciparum. Conclusion Malaria cases among Amerindian populations increased between 2014 and 2018 and seem to have a different geographic distribution than those among the general population. These findings suggest that tailored interventions will be necessary to curb the impact of malaria transmission in these groups.


2021 ◽  
Vol 22 (9) ◽  
pp. 4480
Author(s):  
Maria Tziastoudi ◽  
Georgios Pissas ◽  
Georgios Raptis ◽  
Christos Cholevas ◽  
Theodoros Eleftheriadis ◽  
...  

Chronic kidney disease (CKD) is an important global public health problem due to its high prevalence and morbidity. Although the treatment of nephrology patients has changed considerably, ineffectiveness and side effects of medications represent a major issue. In an effort to elucidate the contribution of genetic variants located in several genes in the response to treatment of patients with CKD, we performed a systematic review and meta-analysis of all available pharmacogenetics studies. The association between genotype distribution and response to medication was examined using the dominant, recessive, and additive inheritance models. Subgroup analysis based on ethnicity was also performed. In total, 29 studies were included in the meta-analysis, which examined the association of 11 genes (16 polymorphisms) with the response to treatment regarding CKD. Among the 29 studies, 18 studies included patients with renal transplantation, 8 involved patients with nephrotic syndrome, and 3 studies included patients with lupus nephritis. The present meta-analysis provides strong evidence for the contribution of variants harbored in the ABCB1, IL-10, ITPA, MIF, and TNF genes that creates some genetic predisposition that reduces effectiveness or is associated with adverse events of medications used in CKD.


2011 ◽  
Vol 26 (S2) ◽  
pp. 1631-1631 ◽  
Author(s):  
P. De Usabel Guzmán ◽  
M.J. Mota Rodríguez ◽  
A. Pampin Alfonso ◽  
J.B. Brenlla Gonzalez ◽  
M.J. Núñez ◽  
...  

IntroductionSuicide is a major public health problem in most of the countries because it has a high prevalence in young people. It has been studied that high levels of cortisol are associated with depression and increase of the suicidal risk.ObjectiveTo analyze the relationship between cortisol levels in a population of university students and the questionnaire results for the Beck Depression Inventory (BDI).MethodThe sample was composed by 106 students of the Nursing School of Santiago de Compostela University. The 88.7% of the sample are women with a mean age of 21.50 + /−2.52, the 99% are unmarried. The protocol consisted in 3 sections: demographic variables, BDI questionnaire with spanish scale and determination of salivary cortisol levels. Statistical analysis was done with SPSS 15.ResultsThe are higher levels of salivary cortisol in students with a greater or equal score to 13 on the BDI with statistically significances differences (p = .000). Students with suicidal ideation (item 9 of the BDI) have highest rates of cortisol, with statistically significant differences (p = 0.001).ConclusionsThis study supports other researchs about the association between biological neuroendocrine markers and affective disorders. Explaining suicidal behavior could help us to prevent it by using early intervention strategies for vulnerable populations. They could also identify markers to establish the risk of suicide.


2019 ◽  
Author(s):  
Adia Pilav ◽  
Emira Tanović-Mikulec ◽  
Suada Branković ◽  
Vedran Đido

Aim. The aim of this paper is to present public health importance of hypertension in population as one of the major CVD risk factor as well as a model of integrated approach to hypertension control at community level. Background. In spite of wide knowledge of pathophysiology and epidemiology in development of hypertension, ability to easily diagnose it, availability of efficient medications, hypertension continues to have high prevalence and setting up hypertension controls poses significant public health challenge. High prevalence of hypertension exists in all countries of the world, regardless of socioeconomic status of the country. It is estimated that the number of people with hypertension by 2025 will rise by 15-20%, and the number of sick people will increase up to 1.5 billion people worldwide. Methods. A review of the relevant literature which discusses the importance of defining clear strategies and interventions in the control of hypertension in countries, with particular emphasis on integrated hypertension management that has the greatest impact. Discussion. Effective and efficient hypertension control requires two approaches: population approach and individual approach to high-risk individuals. The balanced combination of population approach and an approach to access high-risk individuals is vital for the effective control of hypertension and cardiovascular diseases. Conclusions. Health systems in every country must be flexible and ready to provide adequate model of integrated approach to hypertension control at community level understanding their own local needs.


Author(s):  
Seema B. N.

Background: Anemia is the nutritional deficiency disorder and 56% of all women living in developing countries are anaemic according to World Health Organization. India has the highest prevalence of anaemia and 20% of total maternal deaths are due to anemia. To determine the prevalence of anemia and factors influencing its causation among pregnant women.           Methods: This is the study of 1769 pregnant women which was conducted in a rural population of Koppal district, Karnataka, India, from June 2016 to November 2016 i.e. a period of 6 months. This longitudinal prospective observational study was conducted in the district hospital of Koppal. Anemia was classified as per the Indian Council of Medical Research (ICMR) criteria. The diagnosis of anemia was undertaken by peripheral blood smear examination and standard hemoglobin estimation by shale’s method.Results: The average age of pregnant women was 23.5 years, ranging between 18 and 40 years. Most of the women belonged to below poverty line (BPL) families (84.6%) and Hindu religion (98%). Regarding education, 28.9% were illiterates. The mean haemoglobin level was found to be 8.95. Prevalence of anemia was 96.5% among the pregnant females in this region of rural Koppal. Out of these 22.47% had mild anemia, 56.30% had moderate anemia, 14.98% had severe anemia and 2.73% very severe anemia according to ICMR classification of anemia.Conclusions: High prevalence of anemia among pregnant women indicates anemia to be a major public health problem in the rural community and indicates strict implementation of National Nutrition Anemia prophylaxis programme. Factors such as socioeconomic status, education, birth interval, and gravida contribute to this high prevalence.


2014 ◽  
Vol 51 (4) ◽  
pp. 316-319 ◽  
Author(s):  
Gabriel de Deus VIEIRA ◽  
Cledson Gonçalves VENTURA ◽  
Camila Maciel de SOUSA

Context Hepatitis C causes a major impact on public health due to the high prevalence in the population. Objectives Evaluate the epidemiological data of hepatitis C in the State of Rondônia, Brazil. Methods Data from hepatitis C were analyzed during the period 2002 to 2012, assigned by the Agency for Sanitary Vigilance of the State of Rondônia. The variables studied were: year of diagnosis, gender, age, associated disease, exposure to risk factors and clinical presentation. Results Eight hundred fifty-nine cases were reported during the study period. Of this total, 542 (63.1%) cases were male. In relation to age group, the one with the highest number of cases was between 40-59 years (54%), followed by 20-39 years (33.5%). In relation to sexually transmitted diseases (STDs) association, 1.8% of patients had HIV and 2.1% other type of sexually transmitted disease. About exposure to risk factors, 288 (28.1%) individuals were exposed to a surgical procedure. Was also analyzed the clinical form of the disease, 9.9% are in acute disease and 91.1% in the chronic phase. Conclusions In the State of Rondônia, hepatitis C had a mean annual incidence of 5.1 cases/100,000 inhabitants, similar to the national rate.


2021 ◽  
Vol 1 (2) ◽  
pp. 34-41
Author(s):  
A Dieng ◽  
AD Faye ◽  
MM Ndiaye ◽  
G Diop ◽  
A Bouazé ◽  
...  

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.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Marina Aferiba Tandoh ◽  
Abigail Owusuaa Appiah ◽  
Anthony Kwaku Edusei

Anemia among adolescent females is a major worldwide public health problem which should be given appropriate attention. Half of all anemic cases are caused by iron deficiency. In addition to anemia, poor nutrition is also a challenge in sub-Saharan Africa. This study determined the prevalence of anemia and undernutrition among adolescent females in school. A cross-sectional study was conducted among 151 adolescent females in four basic schools in the Ahafo region of Ghana. The hemoglobin level and anthropometry measures of participants were taken to determine their anemic and nutritional status. The prevalence of anemia among adolescent females in school was 50.3%. Out of the 151 participants, 6.6%, 19.9%, and 23.8% were severely anemic, moderately anemic, or mildly anemic, respectively. Only 2% of the participants were underweight, but the rate of stunting was 26.5%. The notable high prevalence of anemia that was found among adolescent females was correlated with other health and wellness concerns. Anemia and under nutrition negatively affect academic performance, productivity, and general wellbeing of adolescents; therefore, effective measures should be put in place to correct and eradicate these nutritional problems.


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