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1.
Medicine (Baltimore) ; 100(29): e26614, 2021 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-34398016

RESUMO

ABSTRACT: Cytochrome P450 enzymes play a central role in the phase I biotransformation process of a wide range of compounds, including xenobiotics, drugs, hormones and vitamins. It is noteworthy that these enzymes are highly polymorphic and, depending on the genetic makeup, an individual may have impaired enzymatic activity. Therefore, the identification of genetic variants in these genes could facilitate the implementation of pharmacogenetic studies and genetic predisposition to multifactorial diseases. We have established the frequencies of CYP2B6 (rs3745274; rs2279343) and CYP3A4 (rs2740574) alleles and genotypes in 209 healthy Malian subjects using TaqMan drug metabolism genotyping assays for allelic discrimination. Allele frequencies were 37% for CYP2B6 rs3745274; 38% for CYP2B6 rs2279343; and 75% for CYP3A4 rs2740574 respectively. Overall, the frequencies observed in Mali are statistically comparable to those reported across Africa except North Africa. The major haplotypes in CYP2B6 rs3745274 and CYP2B6 rs2279343 were represented by GA (60.24%) followed by TG (35.36%). We noted a strong linkage disequilibrium between CYP2B6 rs3745274 and CYP2B6 rs2279343 with D' = 0.91 and r2 = 0.9. The frequencies of the genotypic combinations were 43.5% (GT/AG), 37.3% (GG/AA) and 11.5% (TT/GG) in the combination of CYP2B6-rs3745274 and CYP2B6-rs2279343; 26.8% (GT/CC), 25.4%, (GT/CT), 17.2% and GG/CT in the combination CYP2B6-rs3745274-CYP3A4-rs2740574; 26.8% (AG/CC), 23.9% (AA/CC), 19.1% (AG/CT), and 11% (AA/CT) in the combination CYP2B6-rs2279343-CYP3A4-rs2740574, respectively. The most common triple genotype was GT/AG/CC with 24.9%, followed by GG/AA/CC with 23.9%, GT/AG/CT with 16.7%, and GG/AA/CT with 10%. Our results provide new insights into the distribution of these pharmacogenetically relevant genes in the Malian population. Moreover, these data will be useful for studies of individual genetic variability to drugs and genetic predisposition to diseases.


Assuntos
Alelos , Genótipo , Haplótipos/genética , Adolescente , Adulto , Idoso , Citocromo P-450 CYP2B6/genética , Citocromo P-450 CYP3A/genética , Feminino , Humanos , Malásia/etnologia , Masculino , Pessoa de Meia-Idade , Farmacogenética/métodos
2.
BMC Psychiatry ; 21(1): 413, 2021 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-34416862

RESUMO

BACKGROUND: Schizophrenia is a relatively common disease worldwide with a point prevalence of around 5/1000 in the population. The aim of this present work was to assess the demographic, clinical, familial, and environmental factors associated with schizophrenia in Mali. METHODS: This was a prospective descriptive study on a series of 164 patients aged at least 12 years who came for a follow-up consultation at the psychiatry department of the University Hospital Center (CHU) Point G in Mali between February 2019 and January 2020 for schizophrenia spectrum disorder as defined by DSM-5 diagnostic criteria. RESULTS: Our results revealed that the male sex was predominant (80.5%). The 25-34 age group was more represented with 44.5%. The place of birth for the majority of our patients was the urban area (52.4%), which also represented the place of the first year of life for the majority of our patients (56.1%). We noted that the unemployed and single people accounted for 56.1 and 61% respectively. More than half of our patients 58.5% reported having reached secondary school level. With the exception of education level, there was a statistically significant difference in the distribution of demographic parameters. Familial schizophrenia cases accounted for 51.7% versus 49.3% for non-familial cases. The different clinical forms were represented by the paranoid form, followed by the undifferentiated form, and the hebephrenic form with respectively 34, 28 and 17.1%. We noted that almost half (48.8%) of patients were born during the cold season. Cannabis use history was not observed in 68.7% of the patients. The proportions of patients with an out-of-school father or an out-of-school mother were 51.2 and 64.2%, respectively. CONCLUSION: The onset of schizophrenia in the Malian population has been associated with socio-demographic, clinical, genetic and environmental characteristics.


Assuntos
Esquizofrenia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Escolaridade , Humanos , Masculino , Estudos Prospectivos , Esquizofrenia/epidemiologia , Estações do Ano
3.
Mol Biol Rep ; 47(1): 393-400, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31650384

RESUMO

Glutathione S-transferase genes, known to be highly polymorphic, are implicated in the process of phase II metabolism of many substrates, including xenobiotics, anticancer and anti-infective drugs. The detoxification activity is linked to individual genetic makeup. Therefore, the identification of alleles and genotypes in these genes within a population may help to better design genetic susceptibility and pharmacogenetic studies. We performed the present study to establish the frequencies of the GSTM1, GSTT1, and GSTP1 c. 313A > G (rs1695) polymorphisms in 206 individuals of the Malian healthy population. GSTM1 and GSTT1 were genotyped by using multiplex polymerase chain reaction, whereas genotypes of GSTP1 were identified by polymerase chain reaction followed by restriction fragment length polymorphism. The frequencies of GSTM1-null and GSTT1-null genotypes were respectively 24.3 and 41.3%. The observed genotype frequencies for GSTP1 were 25.73% homozygous wild-type AA, 49.03% heterozygous AG and 25.24% homozygous mutant GG. The frequency of GSTP1-A allele was 50.24% versus 49.76% for the GSTP1-G allele. The distribution of these three genes was homogeneous between men and women (p > 0.05). We found no statistical association between the presence of a particular profile of GSTM1 or GSTT1 with the genotypes of GSTP1 (p > 0.05). Nevertheless, we noticed that the majority of the individuals harboring the GSTM1-present or the GSTT1-present harbor also the GSTP1-AG genotype. In addition, the triple genotype GSTM1-present/GSTT1-present/AG was the most frequent with 25.2%. Our findings will facilitate future studies regarding genetic associations of multifactorial diseases and pharmacogenetic, thus opening the way to personalized medicine in our population.


Assuntos
Glutationa S-Transferase pi/genética , Glutationa Transferase/genética , Desintoxicação Metabólica Fase II/genética , Adolescente , Adulto , Idoso , Alelos , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Glutationa S-Transferase pi/metabolismo , Glutationa Transferase/metabolismo , Voluntários Saudáveis , Humanos , Masculino , Mali , Desintoxicação Metabólica Fase II/fisiologia , Pessoa de Meia-Idade , Polimorfismo Genético/genética , Fatores de Risco
4.
J AIDS Clin Res ; 11(7)2020.
Artigo em Inglês | MEDLINE | ID: mdl-34295571

RESUMO

Background: Routine monitoring of HIV-1 Viral Load (VL) is important in patients on Antiretroviral Therapy (ART) management. Access to HIV VL remains a challenge in resource-limited settings, especially in rural areas. Universal access to VL requires more simplified and less restrictive alternatives to current conventional VL methods. The objective of this study was to evaluate the performance of the new rapid (2-hour turnaround time) Xpert HIV-1VL technique compared to Roche TaqMan and Abbott RT m2000 for HIV-1 RNA quantification in HIV- infected patients. Study design: We conducted a cross-sectional study in patients seen for routine VL monitoring between August and November 2018 in a HIV care site in Bamako. The performance of the Xpert HIV-1 VL assay was evaluated against the Roche TaqMan assay and Abbott m2000 RT assay. Performance, utility and reliability/reproducibility were verified using accuracy, sensitivity, specificity, positive and negative predictive values, Diagnostic Odds Ratio (DOR), Kappa coefficient, Pearson correlation coefficient, and Bland-Altman analysis. Results: The Xpert assay compared well with the two current referral assays (Roche TaqMan and Abbott m2000 RT assays). Compared to Roche TaqMan assay the sensitivity was 93.10%, specificity (97.01%) and accuracy (95.20%), the correlation coefficient of Pearson (r) was 0.98 (p <0.01). Bland-Altman analysis showed a mean difference of 0.18 log10 cp/mL; (Standard Deviation) SD=0.33. Compared to the Abbott m2000 RT, the sensitivity, the specificity and the accuracy were respectively 93.44%; 92% and 92.65%. The Xpert HIV-1 VL assay showed a good correlation with a correlation coefficient of Pearson, r=0.99 (p <0.001). The overall mean difference in the HIV-1 VL values obtained by Xpert HIV-1 VL and Abbott m2000 RT assays was 0.08 log10 cp/mL; SD=0.30. Conclusion: Xpert HIV-1 VL showed a good performance compared to Roche TaqMan and Abbott m2000 RT. With the rapid test results (less than 2 h) and ease of testing individual specimens, the Xpert HIV-1 VL assay could be an effective alternative for HIV VL monitoring in resource-limited settings.

5.
J Pharmacol Exp Ther ; 366(3): 479-484, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29986950

RESUMO

Limited data are currently available on antiretroviral pharmacokinetics in breast milk (BM) and in breastfed infants' blood. To explore these parameters in patients in Mali, we measured plasma antiretroviral levels in human immunodeficiency virus (HIV)-infected mothers and their breastfed infants over 6 months. We specifically analyzed the concentrations of efavirenz (EFV) and lopinavir (LPV) in the plasma of mothers living with HIV and their breastfed infants. Blood samples were collected at delivery and at month 1, 3, and 6 postpartum. EFV and LPV concentrations were measured by liquid chromatography-tandem mass spectrometry. HIV-1 RNA load was measured by Abbott M2000RT RealTime System at delivery and 6 months postpartum for mothers, and at 3 and 6 months postbirth for infants. The median duration of antiretroviral therapy at study inclusion was 57 months [interquartile range (IQR), 0-168 months]. The median EFV ratios of infant plasma/maternal plasma (MP) were 0.057 at month 1, 0.072 at month 3, and 0.048 at month 6. During the study period, the median BM/MP ratio of EFV was 1.16 (IQR, 0.96-20.62), which corresponds to a relative infant dose of 2.46% of the recommended weight-adjusted pediatric EFV dose at month 6. The apparent infant clearance of EFV was 0.146 l/h per kilogram at month 6. The LPV concentrations in the plasma of all infants were undetectable. No drug-related adverse reaction or toxicity was observed in any of the infants. The two women who presented a viral load of >50 copies/ml at month 6 had undetectable plasma drug concentrations at the same period. This study showed that breastfed infants received a low level of EFV but not LPV from their treated mothers.


Assuntos
Fármacos Anti-HIV/sangue , Benzoxazinas/sangue , Aleitamento Materno , Infecções por HIV/tratamento farmacológico , Lopinavir/sangue , Mães , Adolescente , Adulto , Alcinos , Fármacos Anti-HIV/efeitos adversos , Fármacos Anti-HIV/farmacocinética , Fármacos Anti-HIV/uso terapêutico , Benzoxazinas/efeitos adversos , Benzoxazinas/farmacocinética , Benzoxazinas/uso terapêutico , Ciclopropanos , Feminino , Humanos , Lactente , Lopinavir/efeitos adversos , Lopinavir/farmacocinética , Lopinavir/uso terapêutico , Masculino , Mali , Segurança , Distribuição Tecidual , Adulto Jovem
6.
Gastroenterol Clin Biol ; 29(6-7): 652-5, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16141997

RESUMO

AIM: To study schistomasiasis infection in school children in Molodo, an irrigated rice growing region of Mali, by determining the prevalence of schistomasiasis and lesions identified by ultrasonography among children living in this region. METHODS: This cross sectional study included 346 children aged 7 to 14 years selected at random from five schools in Molodo. We tested for hematuria using urine dipsticks and searched for Schistosoma haematobium eggs in urine and S. mansoni eggs in stools. Ultrasonography of the liver, spleen and urinary tract was performed. RESULTS: The prevalences of Schistosoma haematobium and S. mansoni infection were 72% (range: 66.9-76.6%) and 68.2% (range: 60.9-71.2%) respectively; 55.1% of the children had co-infection. Ultrasonography of the urinary tract revealed an irregular bladder wall as the most frequent abnormality (3.4% of children). Abdominal ultrasonography demonstrated type B hepatic fibrosis in four children (1.1%), type C in one (0.3%) and type D in one (0.3%). CONCLUSION: Few schistosomiasis lesions were detected by ultrasonography compared with the prevalence of S. haematobium and S. mansoni infections. This observation is probably related to mass treatment programs conducted during a national anti-schistosomiasis program.


Assuntos
Schistosoma haematobium/patogenicidade , Schistosoma mansoni/patogenicidade , Esquistossomose Urinária/diagnóstico por imagem , Esquistossomose Urinária/epidemiologia , Esquistossomose Japônica/diagnóstico por imagem , Esquistossomose Japônica/epidemiologia , Sistema Urinário/diagnóstico por imagem , Adolescente , Animais , Criança , Estudos Transversais , Fezes/parasitologia , Feminino , Hematúria/etiologia , Humanos , Masculino , Prevalência , Schistosoma haematobium/isolamento & purificação , Schistosoma mansoni/isolamento & purificação , Ultrassonografia , Sistema Urinário/parasitologia
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