RESUMEN
The pathogenic mechanisms underlying Schizophrenia (SZ), one of the most frequent mental disorders, are complex and poorly understood. Several evidences suggest that inflammatory processes may underpin some of its neurobiological correlates. The aim of this study was: (i) to analyze the potential association between circulating levels of the C-reactive protein (CRP), a crucial inflammatory marker, and Schizophrenia in Tunisian patients and healthy controls (HC) cohorts; (ii) to investigate the genetic diversity of three CRP variants (rs1417938, rs1130864 and rs1205) and; (iii) to analyze a potential relationship between expression and genetic data and clinical and socio demographical characteristics. CRP polymorphisms were exanimated for 155 patients and 203 HC by taqMan5'-nuclease. High-sensitivity CRP (hs-CRP) serum level was measured in 128 clinically stable out-patient SZ patients and 63 HC subjects via an automated biochemical analyzer. We found that hs-CRP levels were significantly higher in SZ patients as compared to HC. No significant differences were found when the proportions of CRP variants were compared in patients and HC. Further analysis according to clinical and socio demographical characteristics revealed a positive association with age and hypertension. Our data on an original Tunisian sample confirm the previous finding in others population groups.
Asunto(s)
Proteína C-Reactiva/análisis , Esquizofrenia/sangre , Esquizofrenia/epidemiología , Adolescente , Adulto , Anciano , Biomarcadores/análisis , Biomarcadores/sangre , Proteína C-Reactiva/metabolismo , Estudios de Casos y Controles , Estudios de Cohortes , Susceptibilidad a Enfermedades , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Esquizofrenia/etiología , Túnez/epidemiología , Adulto JovenRESUMEN
OBJECTIVES: Osteopenia is characterized by intermediate values of bone mineral density (BMD) as compared to normal and osteoporotic subjects. BMD, a surrogate phenotype for osteoporosis, is influenced in part by genetic factors. Among the genes associated with BMD, the vitamin D receptor (VDR) was the first gene studied as a potential candidate associated with BMD in adult and postmenopausal bone loss. However, results are controversial. METHODS: To determine whether VDR polymorphisms ApaI and TaqI are associated with BMD, osteopenia, osteoporosis and low-impact fracture risk in North Africans, these genotypes were analyzed in 566 postmenopausal Tunisian women. RESULTS: In postmenopausal Tunisian women, the GT ApaI genotype seems to be protective against osteoporosis development (p = 0.02; odds ratio = 0.54). Moreover, the presence of the combined GT/TT genotype of ApaI and TaqI polymorphisms is more frequent in normal BMD women than in osteoporotic women (p = 0.00; odds ratio = 0.41). Interestingly, the GG ApaI genotype is associated with osteopenia development (p = 0.02; odds ratio = 1.86) and also the TT TaqI polymorphism (p = 0.02; odds ratio = 1.53). The GG ApaI genotype is associated with a three times risk of vertebral fracture. CONCLUSIONS: The ApaI polymorphism showed an association with osteopenia and low-impact vertebral fracture incidence but not with osteoporosis. The TaqI polymorphism is associated specifically with the osteopenia phenotype. The presence of the two polymorphisms increases the risk to develop osteopenia in postmenopausal Tunisian women. Osteopenia seems to be genetically determined. However, osteoporosis is the result of interaction between genetic and environmental factors.
Asunto(s)
Enfermedades Óseas Metabólicas/genética , Predisposición Genética a la Enfermedad , Genotipo , Fenotipo , Polimorfismo de Nucleótido Simple , Posmenopausia/genética , Receptores de Calcitriol/genética , Adulto , Anciano , Enfermedades Óseas Metabólicas/epidemiología , Estudios de Cohortes , Femenino , Marcadores Genéticos , Humanos , Incidencia , Persona de Mediana Edad , Osteoporosis Posmenopáusica/epidemiología , Osteoporosis Posmenopáusica/genética , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/genética , Túnez/epidemiologíaRESUMEN
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.
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Cromosomas Humanos Par 1/genética , Proteínas Ricas en Prolina del Estrato Córneo/deficiencia , Psoriasis/genética , Eliminación de Secuencia , Adolescente , Adulto , Anciano , Niño , Cromosomas Humanos Par 6/genética , Proteínas Ricas en Prolina del Estrato Córneo/genética , Epistasis Genética , Salud de la Familia , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Antígenos HLA-C/genética , Humanos , Mutación INDEL , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Psoriasis/epidemiología , Psoriasis/etnología , Túnez/epidemiología , Túnez/etnología , Adulto JovenRESUMEN
SETTINGS: In Tunisia, therapeutic failure profile is detected in 42.22% of treated patients. These patients are still confronted to ethical and socioeconomic problems but also to therapeutic and technical ones. Indeed, the limited number of available antiretroviral (ARV) molecules and the unavailability of resistance genotypic test in routine use is the reason why the same therapeutic combination of ARV molecules is maintained after therapeutic failure in some cases. OBJECTIVE AND METHOD: The authors studied the evolution, on two consecutive samples, of resistance mutations in patients with prolonged exposure to the same therapeutic combination after therapeutic failure and the resulting effect on management of these patients. RESULTS: We found a greater number of patients presenting with mutant viral stains after a prolonged exposure to the same ARV molecules. Results also showed that the detected mutation frequency increased and even more on the second sample, compared to the first one. Thus, the early diagnostic of resistance mutations using genotypic resistance test would be of great interest by allowing the physician to take necessary measures to reduce resistance rate and find an optimal treatment for the patient. CONCLUSION: The introduction of new ARV molecules in our country was also an important step by improving the therapeutic management of HIV infected patients.
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Fármacos Anti-VIH/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , VIH-1/efectos de los fármacos , Fármacos Anti-VIH/farmacología , Resistencia a Medicamentos/genética , Frecuencia de los Genes , Genotipo , Infecciones por VIH/genética , VIH-1/genética , Humanos , Mutación , TúnezRESUMEN
Three years after the introduction of antiretroviral therapy (ART) in Tunisia (North Africa), we aimed to determine the prevalence of drug resistance mutations in Tunisian HIV-1-infected patients failing ART. Plasma samples of 80 patients were tested for genotypic resistance using two distinct line probe assays, LiPA HIV-1 reverse transcriptase RT and LiPA HIV-1 protease assay. Of the 80 patients, 82.5% showed resistance to at least one antiretroviral molecule. In the RT gene, resistance to nucleoside RT inhibitors (NRTIs) and non-nucleoside RT inhibitors (NNRTIs) were recognized in 66.25 and 37.5%, respectively, with M184V, T215Y and K103N being the codons most frequently involved. Resistance to protease inhibitors (PIs) was found in 46.25% of cases. Despite the presence of different mutations, the viral variants were still susceptible to other RTIs and PIs that are currently not available in Tunisia. Thus, alternative therapeutic options exist but are not yet accessible.
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Fármacos Anti-VIH/farmacología , Infecciones por VIH/virología , Inhibidores de la Proteasa del VIH/farmacología , VIH-1/genética , Inhibidores de la Transcriptasa Inversa/farmacología , Adolescente , Adulto , Fármacos Anti-VIH/uso terapéutico , Terapia Antirretroviral Altamente Activa , Farmacorresistencia Viral/genética , Femenino , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/prevención & control , Proteasa del VIH/genética , Inhibidores de la Proteasa del VIH/uso terapéutico , Transcriptasa Inversa del VIH/genética , VIH-1/efectos de los fármacos , Humanos , Masculino , Mutación , Estudios Retrospectivos , Inhibidores de la Transcriptasa Inversa/uso terapéutico , Insuficiencia del Tratamiento , Túnez/epidemiologíaRESUMEN
Allele frequencies, together with some parameters of forensic interest, for 15 STRs included in the Powerplex 16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPO and VWA) were estimated from two samples of unrelated individuals from Tunisia, of different ethnicity: Kesra (Berber) and Zriba (Arab). No deviations from Hardy-Weinberg equilibrium were observed after Bonferroni's correction for the number of loci analysed. Comparative analyses between our population data and other North African databases showed that significant differences were concentrated on loci with lowest values of diversity (mainly CSF1PO and D13S317), irrespective of ethnicity and geographic location.
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Etnicidad/genética , Genética de Población , Secuencias Repetidas en Tándem , Dermatoglifia del ADN/métodos , Frecuencia de los Genes , Marcadores Genéticos , Humanos , Reacción en Cadena de la Polimerasa , TúnezRESUMEN
Mycoplasma pneumoniae (MP) infection is associated with the emergence of anti-I cold agglutinins of IgM isotype, rarely complicated by hemolytic anemia. The mechanism by which the autoimmune disease occurs is still considerably controversed. We describe here a case of MP infection complicated by severe autoimmune hemolytic anemia with monoclonal anti-I IgM. IgM anti-I antibodies were purified by adsorption-elution on OI+ red cells. The red blood cell antibodies were found to be tightly associated with IgG and anti-MP specificity probably as immune complexes. The significance of these results is discussed.