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Casablanca, Morocco

Senhaji N.,Hassan II University | Serbati N.,Hassan II University | Diakite B.,Hassan II University | Arazzakou S.,CHU Ibn Rochd | And 3 more authors.
Gene | Year: 2013

Background: The association of genetic polymorphisms related to metabolism of homocysteine and folate with inflammatory bowel disease has been evidenced. Several studies have identified genetic variants of MTHFR as significant susceptibility loci for Crohn's disease (CD) and ulcerative colitis (UC). The C677T genetic polymorphism in the MTHFR gene is found to be associated with a thermolabile variant enzyme that shows a reduced activity. Therefore, we investigated whether the C677T variant confers genetic susceptibility to CD or UC and evaluated the genotype-phenotype associations in the Moroccan population. Methods: The present study included 96 inflammatory bowel disease patients (68 patients with CD and 28 with UC) and 182 healthy controls. DNA samples were genotyped for the MTHFR (C677T) mutation by the PCR-RFLP method. Statistical analyzes were performed using MedCalc software, Chi square test and Fisher test. Results: The respective odds ratio for CD, UC and control group were, 1.55 (CI 95%: 0.53-4.53, P = 0.52); 0.50 (CI 95%: 0.06-4.15, P = 0.52) and 0.50 (CI 95%: 0.06-4.15, P = 0.52). Thus, no statistically significant association with the disease was observed in frequency of the TT variant in comparison to healthy controls. Stratification of IBD patients on the basis of CD or UC showed that individuals carrying at least one T allele are not protected against Crohn's disease. Furthermore, clinical features of the disease did not show any significant association. Conclusion: In conclusion, the present study indicates that the genetic risk for IBD is not modulated by MTHFR C677T polymorphism in Moroccan population. © 2013 Elsevier B.V. Source

Benyaich H.,CHU Ibn Rochd
Sexologies | Year: 2012

Objective: The effects of domestic violence on the physical, mental and sexual health of women are a subject of increasing concern. This is particularly true of sexual abuse, of which only very few women dare even speak and accuse. The aim of our study is to characterize domestic sexual violence among patients treated in our service. Methods: Our study included all women who consulted for domestic violence over a period of 12months. Of the 200victims of domestic violence, eight were victims of associated sexual violence. Results: The patients' ages ranged from 20 to 48years. Only 10women had jobs outside of their homes. In all cases, the aggressor was the male partner, suffering from substance abuse in 27cases and with a criminal history in 14cases (theft, abuse, assault and injuries...). Violence consisted primarily of imposed anal penetration in all the cases. Associated physical violence was noted in 23cases. The medical examination confirmed injuries consistent with the reported anal violence in five cases. Discussion: In our sociocultural context, it is difficult to determine the extent of domestic sexual abuse. The subject is still taboo and forced sex is not always recognized as violence. This is also reflected in case-law which refuses to recognize the reality of rape between husband and wife. © 2011. Source

Reis A.F.,Federal University of Sao Paulo | Kannengiesser C.,Laboratoire Of Biochimie Hormonale Et Genetique | Kannengiesser C.,University Paris Diderot | Jennane F.,CHU Ibn Rochd | And 9 more authors.
Pediatric Diabetes | Year: 2011

Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis. © 2010 John Wiley & Sons A/S. Source

Senhaji N.,Hassan II University | Diakite B.,Hassan II University | Serbati N.,Hassan II University | Zaid Y.,Montreal Heart Institute | And 2 more authors.
BMC gastroenterology | Year: 2014

BACKGROUND: The pathogenesis of inflammatory bowel disease (IBD) involves interactions between the host genetic susceptibility, intestinal microflora and mucosal immune responses through the pattern recognition receptor. Polymorphisms in toll-like receptor 4 (TLR4) induce an aberrant immune response to indigenous intestinal flora, which might favor IBD development. In this study, we aimed to determine whether TLR4 gene was associated with Crohn's disease (CD) and ulcerative colitis (UC) among Moroccan patients, and evaluated its correlation with clinical manifestation of the disease.METHODS: The study population comprised 117 patients with IBD and 112 healthy unrelated blood donors. TLR4 polymorphisms: Asp299Gly and Thr399Ile were genotyped by polymerase chain reaction-restriction fragment length polymorphism. PCR products were cleaved with Nco I for the Asp299Gly polymorphism and Hinf I for the Thr399Ile polymorphism. Meta-analysis was performed to test the association of 299Gly and 399Ileu carriage with CD, UC and the overall IBD risk.RESULTS: Our study revealed that the frequency of Asp299Gly and Thr399Ile did not differ significantly between patients and controls in the Moroccan population. However, meta-analysis demonstrated significantly higher frequencies of both Asp299Gly and Thr399Ile SNPs in IBD and CD and for 399Ileu carriage in UC patients.CONCLUSION: The meta-analysis provides evidence that TLR4 polymorphisms confer a significant increased risk for the overall IBD development. Source

Hamzi K.,Medical Genetic Laboratory and Molecular Pathology | Bellayou H.,Medical Genetic Laboratory and Molecular Pathology | Slassi I.,Medical Genetic Laboratory and Molecular Pathology | Nadifi S.,CHU Ibn Rochd
Neurology India | Year: 2010

Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). The aim of the present study was to establish the use of polymerase chain reaction (PCR)-based simple and rapid method for initial sample screening. Only a minority of samples were tested positive with the above method and need to be detected by tri primer (TP)-PCR and Southern blotting which is more time consuming and involves use of radioactive material. This study concerned 24 patients from nine families with a clinical diagnosis of the DM1. DNA extracted from the blood was used for amplification of the triplet repeat sequences at the DMPK loci. We obtained two bands for the normal subjects and one band for patients corresponding to normal DMPK allele, confirmed by the TP-PCR and the Southern blot. This rapid test for initial screening of samples for the presence of DMPK mutations is economical and reliable method. This method reduces the number of samples needing TP-PCR and Southern blotting. Source

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