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1.
Int J Legal Med ; 134(2): 775-782, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31201501

RESUMO

We aim to establish a Tunisian score for age estimation through the study of chest plate's radiographs of a Tunisian male sample. We have focused on the study of 128 chest plate radiographs of Tunisian male individuals. We have established a score of eight criteria. The total score ranges from 8 to 32. Three observers scored double-blind the X-ray films. We studied the correlation of each criterion as well as the total score with chronological age for each observer. We also tested the reproducibility and the repeatability of criteria and total score. We calculated the estimated age for each score. We studied the relationship between the estimated age and the chronological age. The correlation between the total score and the chronological age has been good for the three observers (0.746, 0.756 and 0.742). The total score gives an estimation of age with a standard deviation of ± 5.88 years and a confidence interval of 95%, the interval's width increases gradually from 6.9 years to 23 years.


Assuntos
Determinação da Idade pelo Esqueleto/métodos , Determinação da Idade pelo Esqueleto/estatística & dados numéricos , Articulações Esternocostais/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Autopsia , Criança , Método Duplo-Cego , Humanos , Masculino , Pessoa de Meia-Idade , Osteogênese , Estudos Prospectivos , Valores de Referência , Análise de Regressão , Reprodutibilidade dos Testes , Estatísticas não Paramétricas , Tunísia/etnologia
2.
Med Anthropol Q ; 34(1): 77-98, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32103540

RESUMO

Since 2015, an unprecedented number of people from Middle Eastern and African countries have crossed borders into and within Europe. Media and political actors describe this time as an "emergency" and a "crisis" that challenges the core of European values and human rights principles. Calling this a crisis implies responding to it, on the one hand, with humanitarian gestures of saving lives, and, on the other, with stricter border control. I reflect on the grammar of crisis and the forms of care that it simultaneously enables and disables. I am inspired by the relationship between two painters-from Tunisia and Nigeria-and their forms of therapeutic and ethical explorations through art. I propose to attend to practices that bear witness to other grammars, or the lack thereof. These practices are the expression of a denial, or, better, of an interruption in the language of the crisis and pathology.


Assuntos
Arte , Criatividade , Refugiados/psicologia , Antropologia Médica , Europa (Continente) , Humanos , Nigéria/etnologia , Socorro em Desastres , Tunísia/etnologia
3.
Psychiatr Q ; 90(1): 229-248, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30498939

RESUMO

There is a scarcity of research on suicidal phenomena in the Muslim world. Therefore, this study aimed at investigating the self-reported prevalence of suicidal thoughts, attempts and motives in 12 Muslim countries. A total of 8417 (54.4% women) university students were surveyed by means of a self-report questionnaire. Overall, 22% of the participants reported suicidal ideation and 8.6% reported attempting suicide. The odds of suicidal thoughts were elevated in Azerbaijan, Indonesia and Saudi Arabia, while reduced ORs were recorded in Egypt, Jordan, Lebanon and Malaysia. While odds of suicide attempts were high in Azerbaijan, Palestine and Saudi Arabia reduced odds ratios (OR) were detected in Indonesia, Iran, Jordan, Lebanon, Malaysia and Tunisia. Taking drugs and using a sharp instrument were the two most frequently used methods to attempt suicide. Only 32.7% of attempts required medical attention. Escape motives were endorsed more than social motives by participants who attempted suicide. Suicidal behaviors were more frequent in women than in men. Compered to men, fewer attempts by women required medical attention. Moreover, our results show that making suicide illegal does not reduce the frequency of suicidal behavior. Results from this comparative study show that suicidal thoughts and attempts are frequent events in young adults in countries where religious scripture explicitly prohibit suicide and the frequencies of nonfatal suicidal behavior show large variation in nations adhering to the same religion.


Assuntos
Islamismo/psicologia , Motivação , Religião e Psicologia , Estudantes/estatística & dados numéricos , Suicídio/etnologia , Adulto , Azerbaijão/etnologia , Egito/etnologia , Feminino , Humanos , Indonésia/etnologia , Irã (Geográfico)/etnologia , Israel/etnologia , Jordânia/etnologia , Líbano/etnologia , Malásia/etnologia , Masculino , Paquistão/etnologia , Prevalência , Arábia Saudita/etnologia , Autorrelato , Fatores Sexuais , Ideação Suicida , Tentativa de Suicídio/etnologia , Tunísia/etnologia , Turquia/etnologia , Universidades/estatística & dados numéricos , Adulto Jovem
4.
Artigo em Inglês | MEDLINE | ID: mdl-27132790

RESUMO

The first generation of Turkish and Northwest African immigrants in Belgium are ageing and at risk for developing cancer. Relatives play an important role and provide both emotional and practical care, including mental support and acting as a contact person and/or a translator for improving access to healthcare, as most patients and their spouses have only a limited command of the language. Although access to professional interpreters has shown to be the best guarantee for qualitative healthcare, oncology health providers working with relatives as interpreters is much more common than professional interpreters. The aim of this study was to provide insight into the process wherein relatives balance truth-telling in translating for an older family member diagnosed with cancer. This was a qualitative research study, with elements of constructivist grounded theory. Twenty-eight loosely structured interviews were conducted. Most relatives consider it their responsibility to contribute to a positive attitude of the patient. Relatives decided to what extent they inform the patient, based on several motives and embedded in their assessment of the patient's emotional strength, understanding and need to be informed. What they decide influences the way they act as a translator and/or a contact person between the patient and health professional(s). Some considered it best to omit medical information while others considered it best to inform the patient fully. The results emphasise the importance for healthcare providers to take into account the complexity and unpredictable character of the process of balancing truth-telling when family members translate for their ill older relative.


Assuntos
Emigrantes e Imigrantes , Família , Neoplasias , Tradução , Revelação da Verdade , Adulto , Idoso , Idoso de 80 Anos ou mais , Argélia/etnologia , Bélgica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/etnologia , Pesquisa Qualitativa , Tunísia/etnologia , Turquia/etnologia , Adulto Jovem
5.
Intervirology ; 59(1): 36-47, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27544241

RESUMO

In Tunisia, the prevalence of naturally occurring surface (S) gene variants of hepatitis B virus (HBV) has not been determined. In the present study, the prevalence of these variants was examined in terms of the clinical and viral state in a series of 99 Tunisian patients with HBV infection. The S genes were amplified and directly sequenced. Genotype D was predominant (98%), 40.4% isolates belonged to subgenotypes D7 and 1 to subgenotype D2. The most common subtype was ayw2 (95.9%). In total, 60.6% of the studied strains harbored S mutations. Several novel mutation patterns were detected. Interestingly, the presence of S mutations was significantly correlated with the D7 subgenotype, low HBV DNA and advancing age (≥35 years), and tended to be higher in liver cirrhosis than in chronic infection. The global prevalence of the major hydrophilic region variants was 12.1%, with substitution S143L/T as the most frequent (4%). Only 33.9% of S substitutions produced amino acid changes in the polymerase gene. In conclusion, a high prevalence of naturally occurring HBsAg variants was observed among Tunisian HBV carriers. Natural viral variability in a geographical region and duration of infection are among the major factors associated with the occurrence of S mutations.


Assuntos
Variação Genética , Antígenos de Superfície da Hepatite B/genética , Vírus da Hepatite B/genética , Hepatite B Crônica/virologia , Adulto , Idoso , Sequência de Bases , Portador Sadio/virologia , DNA Viral/genética , Feminino , Genótipo , Vírus da Hepatite B/classificação , Hepatite B Crônica/epidemiologia , Hepatite B Crônica/etnologia , Humanos , Cirrose Hepática/virologia , Masculino , Pessoa de Meia-Idade , Mutação , Filogenia , Prevalência , Análise de Sequência de DNA , Tunísia/epidemiologia , Tunísia/etnologia , Adulto Jovem
6.
Public Health Nutr ; 19(15): 2743-51, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27122229

RESUMO

OBJECTIVE: To investigate the nutritional status of North African (NA) immigrant women in Italy, analysing their body size, adiposity and body image perception in comparison to Italian natives and NA residents. DESIGN: The study utilized a cross-sectional design. Anthropometric traits were directly measured and a few indices were computed as proxy measures of nutritional status and adiposity. Body image perception was assessed using silhouette drawings. ANCOVA, adjusted for age, was used to compare anthropometric traits among different groups of women and the χ 2 test to analyse differences in the prevalence of nutritional status. SETTING: Italy and North Africa (Tunisia, Morocco). SUBJECTS: A sample of 433 women aged 18-60 years old: NA immigrants (n 105); Italians (n 100); Tunisians (n 104); Moroccans (n 124). RESULTS: Overweight/obesity prevalence was very high in immigrants (79·8 %). Immigrants had the highest BMI value, the greatest hip circumference and mid upper-arm circumference. Their triceps skinfold thickness was significantly higher than that of Italians, but lower than that of NA residents. CONCLUSIONS: NA immigrant women in Italy showed a higher incidence of overweight compared with Italians and NA residents. All groups showed a preference for a thinner body in comparison to their actual bodies and the immigrants are the most dissatisfied. Immigrants remain a high-risk group for obesity. Assessment of their body composition and health risk profile should be improved by using specific anthropometric measures that are easy to collect even in the case of large migration flows.


Assuntos
Imagem Corporal , Peso Corporal , Emigrantes e Imigrantes , Antropometria , População Negra , Índice de Massa Corporal , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Marrocos/etnologia , Obesidade/etnologia , Sobrepeso/etnologia , Tunísia/etnologia
7.
Endocr Res ; 41(4): 300-309, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26905813

RESUMO

AIM OF THE STUDY: Recent genome-wide association studies (GWASs) have identified many genetic variants associated with metabolic syndrome (MetS). However, their contribution to MetS in ethnic groups in Tunisia is largely unexplored. In this study, we aim to examine the associations of related loci with a risk of metabolic syndrome in a sample of Tunisians. MATERIALS AND METHODS: Overall seven polymorphisms rs7265718, rs10401969, rs762861, rs12310367, rs1562398, rs2059807, rs4420638 located at C20orf152, CILP2, LRPAP1, ZNF664, KLF14, INSR, APOE, respectively, were analyzed in 356 samples from the Tunisian population. Anthropometric and biochemical parameters were assessed. Metabolic syndrome was defined according to the International Diabetes Federation (IDF). RESULTS: We find that LRPAP1-rs762861 C allele increases susceptibility to MetS (OR = 1.39, 95% CI = 0.99-1.95, p = 0.041). Separate analysis in men and women revealed the association of rs762861 among females (OR = 1.6, 95% CI = 1.057-2.41, p = 0.021), but not among males (OR = 0.953, 95% CI = 0.51-1.78, p = 0.882). ZNF664-rs12310367 was also found to be associated with body mass index (BMI) in women (p = 0.01) and not in men (p = 0.18). KLF14-rs1562398 was significantly correlated with impaired fasting glucose (p = 0.004) only in men. CONCLUSIONS: Our results reveal new candidate genes for MetS in the Tunisian population and suggest that the genetic basis of this syndrome is gender dependent. Further studies are necessary to understand why these associations differ between males and females.


Assuntos
Síndrome Metabólica/etnologia , Síndrome Metabólica/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Tunísia/etnologia
8.
Mol Cell Probes ; 29(6): 335-342, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26577033

RESUMO

Polymorphisms in the CD40 ligand gene (CD40LG) are associated with various immunological disorders such as tumors, autoimmune and infectious diseases. The aim of this study was to develop a highly optimized double quadruplex tetra-primer amplification refractory mutation system PCR (double quadruplex T-ARMS-PCR) coupled with capillary electrophoresis to allow genotyping of eight relevant candidate CD40LG SNPs and to establish haplotypes. After conducting the double quadruplex T-ARMS-PCR, the genotypes obtained through agarose electrophoresis were compared with those obtained through capillary electrophoresis. This strategy was applied to analyze the genetic patterns of CD40LG in two distinct cohorts of blood donors (211 French and 274 Tunisian). The T-ARMS-PCR method was rapid, inexpensive, reproducible and reliable for SNP determination. Regarding the separation technique, capillary electrophoresis allows traceable and semi-automated analysis while agarose electrophoresis remains a cost-effective technique that does not require specialized or costly equipment. Using these methods, we identified significantly different genetic heterogeneity between the two investigated populations (p ≤ 0.0001) and we also extensively characterized their haplotypes. The obtained genotype distribution and the optimized quadruplex T-ARMS-PCR technique coupled with capillary electrophoresis provides valuable information for studying pathologic inflammation leading to various diseases in which CD40LG might be a candidate gene.


Assuntos
Ligante de CD40/genética , Primers do DNA/química , Eletroforese Capilar/métodos , Polimorfismo de Nucleotídeo Único , Primers do DNA/genética , Feminino , França/etnologia , Quadruplex G , Genótipo , Haplótipos , Humanos , Masculino , Reação em Cadeia da Polimerase Multiplex/métodos , Tunísia/etnologia
9.
Eur J Public Health ; 24 Suppl 1: 6-10, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25107992

RESUMO

In recent years, North African (NA) countries ceased to be emigration-only countries and are now on the verge of becoming immigration as well as transit countries for economic migrants and refugees. Contextual as well as structural long-term factors are driving these changes. The ongoing crises in Africa and the Middle East are prompting strong outflows of refugees, which are likely to induce NA countries to share some common public policy and public health concerns with European countries in a near future. This article highlights some aspects of these changes, from the study of the consequences of the 2011 Libyan crisis in Tunisia. It addresses individual trajectories and health concerns of refugees in and out North Africa from a study of the Choucha camp in Tunisia. The camp opened to immigrants from Libya during the 2011 crisis and accommodated the bulk of the refugees flow to Tunisia until July 2012. The study includes a monographic approach and a qualitative survey in the Choucha camp refugees. We describe the crisis history and the health response with a focus on the camp. We then address refugees' trajectories, and health needs and concerns from the interviews we collected in the camp in April 2012.


Assuntos
Emigração e Imigração/estatística & dados numéricos , Serviços de Saúde/estatística & dados numéricos , Saúde Pública/métodos , Refugiados/estatística & dados numéricos , Adulto , África do Norte/etnologia , Países em Desenvolvimento , Feminino , Serviços de Saúde/tendências , Nível de Saúde , Humanos , Entrevistas como Assunto/métodos , Masculino , Saúde Pública/tendências , Pesquisa Qualitativa , Tunísia/etnologia
10.
Eur J Public Health ; 24 Suppl 1: 11-5, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25107993

RESUMO

This article explores illegal migration routes and groups across North Africa to Europe. We describe sub-Saharan and cross-Mediterranean routes, and how they changed during the years. We propose an analytical framework for the main factors for these migrations, from local to international and regulatory context. We then describe sea-migrants' nationalities and socio-economic and demographic characteristics, from studies undertook in Tunisia and Morocco. While boat migration represents only a fraction of illegal migration to Europe, it raises humanitarian as well as ethical issues for European and North African (NA) countries, as a non-negligible amount of them end up in death tolls of shipwrecks in the Mediterranean Sea. Moreover, existing statistics show that illegal trans-Mediterranean migration is growing exponentially. Ongoing crises in Africa and the Middle East are likely to prompt even larger outflows of refugees in the near future. This should induce NA countries to share closer public policy concerns with European countries.


Assuntos
Emigração e Imigração/estatística & dados numéricos , Refugiados/estatística & dados numéricos , Navios , Migrantes/estatística & dados numéricos , Adolescente , Adulto , África do Norte/etnologia , Países em Desenvolvimento , Europa (Continente) , Feminino , Humanos , Masculino , Mar Mediterrâneo/etnologia , Marrocos/etnologia , Política Pública , Fatores Socioeconômicos , Tunísia/etnologia , Adulto Jovem
11.
Pathol Biol (Paris) ; 62(1): 34-7, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24485035

RESUMO

BACKGROUND: Recently, it has been shown that a deletion in the late cornified envelope (LCE) gene cluster (LCE3C_LCE3B-del) is associated with susceptibility to psoriasis in European and Asian populations. However, no study of this deletion has been performed in the North African population. The aim of the present study was to investigate whether this deletion is associated with familial psoriasis in Tunisian population. METHODS: A total of 34 patients and 55 healthy individuals were recruited from 7 multiplex families and a PCR assay was used to determine the association of this deletion. Its effect on susceptibility to psoriasis was assessed using the PDT program. RESULTS: We failed to detect any evidence of association between LCE3C_LCE3B-del and psoriasis in Tunisian families. No epistasic effect was found between the deletion and PSORS1 locus. CONCLUSIONS: These findings indicate that the LCE3C_LCE3B-del does not contribute in a major way to psoriasis susceptibility in Tunisian families.


Assuntos
Cromossomos Humanos Par 1/genética , Proteínas Ricas em Prolina do Estrato Córneo/deficiência , Psoríase/genética , Deleção de Sequência , Adolescente , Adulto , Idoso , Criança , Cromossomos Humanos Par 6/genética , Proteínas Ricas em Prolina do Estrato Córneo/genética , Epistasia Genética , Saúde da Família , Feminino , Predisposição Genética para Doença/genética , Genótipo , Antígenos HLA-C/genética , Humanos , Mutação INDEL , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Psoríase/epidemiologia , Psoríase/etnologia , Tunísia/epidemiologia , Tunísia/etnologia , Adulto Jovem
12.
J Thromb Thrombolysis ; 35(2): 243-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22932775

RESUMO

We examined the contribution of two factor VII (FVII) bi-allelic (R353Q, -323P0/10) and one tandem repeat (HVR4) polymorphisms to the risk of coronary artery disease (CAD) in Tunisians. Study subjects comprised 308 CAD patients and 312 age-, gender- and ethnically-matched controls. Regression analysis was used in assessing the FVII association to CAD risk. While the distribution of -323P0/10 alleles and genotypes were comparable between cases and controls, marginal association of the R353Q variant was noted, with the Q allele (19.1 vs. 23.8%; P = 0.05) and Q allele-containing genotypes (R/Q + Q/Q; 33.8 vs. 48.0%) being slightly under-represented in cases than in controls. On the other hand, four alleles of FVII microsatellite HVR4 were detected at variable frequencies in Tunisians, and comprised H6 (63.2%), H7 (33.8%), and to lesser extents H5 (1.9%) and H8 (0.8%). Of these, the H7 variant was under-represented in patients [P = 0.038; OR (95%CI) = 0.75 (0.58-0.97)]. Of the major genotypes detected (H6/H6, H6/H7, H7/H7) only H6/H6 was positively associated with CAD [P = 0.047; OR (95%CI) = 1.39 (1.00-1.94)]. In conclusion, our study underscores the role of polymorphisms in the FVII gene in modulating the susceptibility to CAD in (North African) Tunisian Arabs.


Assuntos
Árabes/genética , Doença da Artéria Coronariana/genética , Fator VII/genética , Polimorfismo Genético/genética , Idoso , Árabes/etnologia , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/etnologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Sequências de Repetição em Tandem/genética , Tunísia/etnologia
14.
Int J Immunogenet ; 39(2): 110-3, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22136554

RESUMO

Several polymorphisms in the complement components factor H and CFHR1 are associated with higher risk to develop atypical Haemolytic Uraemic Syndrome (aHUS) in Caucasians. We have determined the prevalence of these polymorphisms in Tunisian controls by using genetic and immunological techniques. No differences in the frequency of the factor H risk alleles c.-331C>T, c.2089A>G or c.2881G>T between Tunisian and Caucasians were found. On the contrary, the analysis of CFHR1 polymorphism revealed a higher frequency of Tunisian individuals homozygous for the CFHR1*Del (deleted) allele, and of individuals presenting the CFHR1*A phenotype. These results suggest distinct contributions of factor H and CFHR1 polymorphisms to aHUS in Tunisian and Caucasian populations.


Assuntos
Proteínas Inativadoras do Complemento C3b/genética , Fator H do Complemento/genética , Síndrome Hemolítico-Urêmica/genética , Polimorfismo Genético , População Branca/genética , Adulto , Alelos , Síndrome Hemolítico-Urêmica Atípica , Proteínas Sanguíneas/genética , Estudos de Casos e Controles , Etnicidade , Predisposição Genética para Doença/etnologia , Genoma Humano , Síndrome Hemolítico-Urêmica/epidemiologia , Síndrome Hemolítico-Urêmica/etnologia , Síndrome Hemolítico-Urêmica/patologia , Homozigoto , Humanos , Fenótipo , Prevalência , Fatores de Risco , Tunísia/etnologia
15.
Ann Hum Biol ; 39(3): 190-4, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22471616

RESUMO

BACKGROUND: Otosclerosis is a common form of hearing impairment among Western-Eurasian adults. The cause of otosclerosis remains unknown. Autoimmune reaction against the otic capsule has been suggested as a possible aetiologic factor in otosclerosis. AIM: The present study is the first report to evaluate the relationship between class I major histocompatibility complex (MHC) genes (HLA-A, HLA-B and HLA-Cw) and genetic susceptibility to otosclerosis in Tunisian patients. SUBJECTS AND METHODS: Fifty unrelated Tunisian patients exhibiting clinical otosclerosis were typed for HLA-A, HLA-B and HLA-Cw antigens and compared with 100 ethnically-matched healthy controls. RESULTS: Increased frequencies of HLA-A*03 (OR = 4.16, Pc < 0.043), HLA-B*35 (OR = 2.76, Pc < 0.043) and HLA-Cw*03 (OR = 4.57, Pc < 0.043) antigens were found in the patients with otosclerosis compared with healthy controls. Individuals with HLA-A*30 (OR=0.25, Pc < 0.043), HLA-B*51 (OR = 0.11, Pc < 0.043), HLA-Cw*16 (OR = 0.08, Pc < 0.043) and Cw*06 (OR=0.32, Pc < 0.043) antigens have a protective effect against otosclerosis. CONCLUSIONS: In conclusion, the data suggest that a variation in class I HLA antigens could be a genetic factor involved in susceptibility to otosclerosis in the Tunisian population.


Assuntos
Predisposição Genética para Doença , Antígenos de Histocompatibilidade Classe I/genética , Otosclerose/genética , Polimorfismo Genético , Adolescente , Adulto , Estudos de Casos e Controles , Etnicidade/genética , Feminino , Frequência do Gene/genética , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Humanos , Masculino , Pessoa de Meia-Idade , Otosclerose/imunologia , Tunísia/etnologia , Adulto Jovem
16.
Eur J Neurol ; 18(5): 695-702, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21040232

RESUMO

BACKGROUND: Febrile seizures (FSs) relatively represent the most common form of childhood seizures. FSs are not thought of as a true epileptic disease but rather as a special syndrome characterized by its provoking factor (fever) and a typical range of 3 months to 5 years. Although specific genes affecting the majority of FS cases have not been identified yet, several genetic loci for FSs have been reported recently. The aim of this report is to search for the gene responsible for FSs in six affected Tunisian families. METHODS: A microsatellite marker analysis was performed on the known FS and generalized epilepsy with febrile seizures plus (GEFS+) loci. According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was tested for mutations by direct sequencing. RESULTS: A sequencing analysis of the SCN1B gene revealed a novel mutation (c.374G>T) that changed an arginine residue with leucine at position 125 of the protein. We consider that the variation R125L may affect the protein structure and stability by the loss of hydrogen bonding. Two identified single nucleotide polymorphisms that are located in a neighboring hypothetical polyadenylation were assumed to compose a putative disease-associated haplotype. CONCLUSION: Our results support that SCN1B is the gene responsible in one amongst the six FS Tunisian families studied and might contribute to the FS susceptibility for the five others.


Assuntos
Química Encefálica/genética , Predisposição Genética para Doença/genética , Haplótipos/genética , Mutação/genética , Convulsões Febris/genética , Canais de Sódio/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões Febris/etnologia , Tunísia/epidemiologia , Tunísia/etnologia , Subunidade beta-1 do Canal de Sódio Disparado por Voltagem
17.
Sci Rep ; 11(1): 21125, 2021 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-34702931

RESUMO

Human populations are genetically affected by their demographic history, which shapes the distribution of their functional genomic variation. However, the genetic impact of recent demography is debated. This issue has been studied in different populations, but never in North Africans, despite their relevant cultural and demographic diversity. In this study we address the question by analyzing new whole-exome sequences from two culturally different Tunisian populations, an isolated Amazigh population and a close non-isolated Arab-speaking population, focusing on the distribution of functional variation. Both populations present clear differences in their variant frequency distribution, in general and for putatively damaging variation. This suggests a relevant effect in the Amazigh population of genetic isolation, drift, and inbreeding, pointing to relaxed purifying selection. We also discover the enrichment in Imazighen of variation associated to specific diseases or phenotypic traits, but the scarce genetic and biomedical data in the region limits further interpretation. Our results show the genomic impact of recent demography and reveal a clear genetic differentiation probably related to culture. These findings highlight the importance of considering cultural and demographic heterogeneity within North Africa when defining population groups, and the need for more data to improve knowledge on the region's health and disease landscape.


Assuntos
Árabes/genética , Sequenciamento do Exoma , Exoma , Feminino , Humanos , Masculino , Tunísia/etnologia
18.
Epilepsia ; 51(9): 1889-93, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20561025

RESUMO

Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989; 30:389-399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.


Assuntos
Canais de Cálcio/genética , Consanguinidade , Epilepsia Tipo Ausência/genética , Linhagem , Adolescente , Anticonvulsivantes/uso terapêutico , População Negra/genética , Criança , Eletroencefalografia/estatística & dados numéricos , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/tratamento farmacológico , Família , Feminino , Ligação Genética , Humanos , Masculino , Fenótipo , Tunísia/etnologia
19.
DNA Repair (Amst) ; 86: 102770, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31865061

RESUMO

Nucleotide excision repair is a multistep process that recognizes and eliminates a spectrum of DNA damages. Five proteins, namely XPC, RAD23, Centrin 2, DDB1 and DDB2 act as a heterodimeric complex at the early steps of the NER pathway and play a crucial role in the removal of DNA lesions. Several exonic mutations on genes coding for these proteins have been identified as associated with Xeroderma-pigmentosum (XP), a rare monogenic disorder. However, the role of regulatory polymorphisms in disease development and inter-ethnic diversity is still not well documented. Due to the high incidence rate of XP in Tunisia, we performed a genotyping analysis of 140 SNPs found on these 5 genes in a set of 135-subjects representing the general Tunisian-population. An inter-ethnic comparison based on the genotype frequency of these SNPs have been also conducted. For the most relevant variants, we performed a comprehensive assessment of their functional effects. Linkage disequilibrium and principal component analysis showed that the Tunisian-population is an admixed and intermediate population between Sub-Saharan Africans and Europeans. Using variable factor maps, we identified a list of 20 polymorphisms that contribute considerably to the inter-ethnic diversity of the NER complex. In-silico functional analysis showed that SNPs on XPC, DDB1 and DDB2 are associated with eQTLs mainly DDB2-rs10838681 that seems to decrease significantly the expression level of ACP2 (p = 6.1 × 10-26). Statistical analysis showed that the allelic frequency of DDB2-rs10838681 in Tunisia is significantly different from all other populations. Using rVarBase, we identified 5 variants on XPC, DDB1 and DDB2 that seem to alter the binding sites of several transcription factors considered as key players in DNA-repair pathways. Results presented in this study provide the first report on regulatory polymorphisms of the NER-complex genes in Tunisia. These results may also help to establish a baseline database for future association and functional studies.


Assuntos
Biologia Computacional/métodos , Reparo do DNA , Redes Reguladoras de Genes , Polimorfismo de Nucleotídeo Único , Xeroderma Pigmentoso/genética , Fosfatase Ácida/genética , Proteínas de Ligação ao Cálcio/genética , Proteínas de Ciclo Celular/genética , Simulação por Computador , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Desequilíbrio de Ligação , Masculino , Tunísia/etnologia , Xeroderma Pigmentoso/etnologia
20.
Public Health Nutr ; 12(6): 832-41, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18647429

RESUMO

OBJECTIVE: To study how dietary patterns and physical activity vary with acculturation and with past and current exposure to socio-cultural norms of the home country among Tunisian migrants. DESIGN: A retrospective cohort study was conducted using quota sampling (n 150) based on age and residence. Dietary intake was assessed using a validated FFQ. Physical activity level and dietary aspects were compared according to length of residence (acculturation), age at migration (past exposure) and social ties with the home country (current exposure). SUBJECTS AND SETTING: Tunisian migrant men residing in the South of France. RESULTS: Migrants who had lived in France for more than 9 years had a higher percentage contribution of meat to energy intake (P = 0.04), a higher Na intake (P = 0.04), a lower percentage contribution of sugar and sweets (P = 0.04) and a lower percentage of carbohydrates (P = 0.03) than short-term migrants. Men who migrated before 21 years of age had a higher Na intake than 'late' migrants (P = 0.02). Men who had distant social ties with Tunisia had a lower physical activity level (P = 0.01) whereas men who had close ties had a higher percentage of fat (P = 0.01) and a higher ratio of MUFA to SFA (P = 0.02). CONCLUSIONS: Acculturation led to a convergence of some characteristics to those of the host population, while some results (meat and salt consumption) were at variance with other acculturation studies. Past and current exposure to the home country helped maintain some positive aspects of the diet. Nevertheless, present dietary changes in Tunisia could soon lessen these features.


Assuntos
Aculturação , Inquéritos sobre Dietas , Exercício Físico/fisiologia , Comportamento Alimentar/etnologia , Migrantes/estatística & dados numéricos , Distribuição por Idade , Estudos de Coortes , Dieta/etnologia , Exercício Físico/psicologia , França , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Classe Social , Inquéritos e Questionários , Fatores de Tempo , Tunísia/etnologia
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