65 research outputs found
Classification des accidents vasculaires cerebraux ischemiques: revue Classification of ischemic stroke: review
Resume La classification internationale TOAST est basée sur les mécanismes étiologiques des AVC ischémiques. Elle classe les causes en 5 groupes, La fréquence relative des différentes causes est difficile à évaluer car elle dépend des critères de définition de certaines pathologies et de la place accordée aux affections dont le lien de causalité avec l'AIC n'est pas certain. Pour les études génétiques d'association dans l'AVC, l'utilisation d'une classification en sous-typage standardisée a été recommandée. Lorsque les accidents ischémiques cérébraux sont divisés en sousgroupes selon le système de la classification étiologique il est possible d'explorer le rôle d'une histoire familiale positive de l'AVC dans ces différents hypothétiques mécanismes physiopathologiques. Abstract TOAST is an international classification is based on the etiologic mechanisms of ischemic stroke. It classifies the causes into five groups, the relative frequency of different causes is difficult to assess because it depends on the definition criteria of many diseases and the importance accorded to diseases whose causal relationship. For genetic studies of association in stroke, using a classification standard subtyping was recommended. When ischemic strokes are divided into subgroups according to the etiologic classification system, it is possible to explore the role of a positive family history of stroke in these pathophysiological mechanisms. Hamzi, K., Nadifi, S., 2012. Classification des accidents vasculaires cerebraux ischemiques: revue. Antropo, 28, 49-53. www.didac.ehu.es/antropo Hamzi et al., 2012. Antropo, 28, 49-53. www.didac.ehu.es/antropo 50 Introduction L'accident vasculaire cérébral (AVC) peut être de deux catégories: ischémique ou hémorragique. L'accident ischémique est le plus fréquent (83%) (Caplan, 2006a) et survient lorsqu'un caillot bloque une artère irriguant le cerveau. L'accident hémorragique (17%) est dû à la rupture d'une artère ou d'un anévrysme entraînant un épanchement sanguin dans les tissus cérébraux. Dans les deux cas, la conséquence principale est l'arrêt de l'apport sanguin aux cellules du cerveau irriguées par l'artère touchée. Cela entraîne rapidement l'asphyxie des cellules puisqu'elles nécessitent un apport en oxygène constant pour pouvoir fonctionner. Lorsque cette situation se maintient sur une longue période de temps, la mort des cellules s'en suit. Dans l'AVC ischémique, l'hypo-perfusion résulte de deux mécanismes parfois intriqués, les phénomènes occlusifs, d'origine thrombotique, l'occlusion artérielle étant la conséquence d'une thrombose complète in situ compliquant une anomalie de la parois d'une artère, l'athérosclérose étant la plus fréquente, ou un trouble de l'hémostase ou encore d'origine embolique, embolie provenant du coeur gauche, de l'aorte ascendante ou des vaisseaux du coup, déterminant le mécanisme thromboembolique La thrombose aiguë semble être le mécanisme central dans la pathogénèse de l'AVC ischémique avec l'élévation du niveau (taux) des facteurs hémostatiques, à savoir le fibrinogène et l'activateur tissulaire du plasminogène (tPA) tels que rapportés dans certaines étude
Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women: A meta-analysis
Background: The ATM gene encoding a large protein kinase is mutated in ataxia-telangiectasia (AT), an autosomale recessive disease characterized by neurological and immunological symptoms, and cancer predisposition. Previous studies suggest that heterozygous carriers of ATM mutations have an increased risk of breast cancer compared with non carriers, but the contribution of specific variants has been difficult to estimate. However, two functional ATM variants, c.7271T > G and c.1066–6T > G (IVS10– 6T > G), are associated with increased risk for the development of breast cancer.Methods: To investigate the role of ATM in breast cancer susceptibility, we genotyped 163 case patients with breast cancer and 150 healthy control individuals for the c.7271T > G and c.1066–6T > G (IVS10– 6T > G) ATM variants using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis.Results: We did not detect the ATM c.7271T > G and c.1066–6T > G (IVS10–6T > G) mutations in any of 150 healthy control individuals and 163 breast cancer patients, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer.Conclusion: These observations suggested that the more common c.1066–6T > G (IVS10–6T > G) mutation and the rare c.7271T > G variant are not a risk factor for developing breast cancer in the Moroccan population. Larger and/or combined association studies are needed to clarify this issue
Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis
EXPRESSION PROFILE OF BREAST CANCER IN MOROCCAN WOMEN
Breast cancer (BC) is a major public health problem. Several transcriptomic studies have been conducted worldwide to elucidate breast carcinogenesis, but more are needed in developing countries like Morocco. This study was carried out to establish a genetic signature of breast cancer in Moroccan women.Transcriptome profiling of 20 fresh breast tumors and normal matched adjacent breast tissues from Moroccan BC patients was analyzed using DNA microarrays.1800 differentially expressed genes (DEGs) were identified: up-regulated genes were involved in mammary gland development, gene expression and signal transduction, while down-regulated genes were directly associated with regulation of kinase activity and signal transduction by protein phosphorylation.This study is to our knowledge the first to analyze gene differential expression in Moroccan women. Focusing on the mRNA expression machinery may help to better understand gene interactions and explore new possibilities for BC targeted therapy
EPIDERMAL GROWTH FACTOR RECEPTOR MUTATIONAL PROFILE IN LUNG CANCER - MOROCCAN COHORT
Background: Lung cancer constitutes the leading cause of cancer-associated mortality worldwide, with approximately 85% of lung cancer cases being non-small cell lung cancer (NSCLC) histological type. The study of epidermal growth factor receptor (EGFR) gene mutational profile in non-small cell lung cancer patients has a special clinical significance in the selection of patients for tyrosine-kinase inhibitor therapy. The aim of this study was to identify the frequency and spectrum of EGFR mutations in a cohort of Moroccan patients with lung cancer using the ADx- ARMS technology as routine method. Materials and methods: We performed this study by processing 164 cases of NSCLC patients recruited between 2015 and 2018. Using the DNA extracted from the formalin-fixed paraffin- embedded FFPE tissue, we evaluated EGFR mutations using HRM-PCR, real time PCR “ADx- ARMS technology for results confirmation. Results: The distribution of EGFR mutations in our cohort was as follows: 70% of patients having a deletion in exon 19, 10% in exon 21(L858R), 10% in exon 20 and 10% in exon 18 (G719X). Conclusion: These results shows the need to incorporate the EGFR mutation test into routine practice and to develop rapid technological approaches in our laboratories for the availability of effective targeted therapy.
Key Concepts of Psychotherapy on the Basis of Play Therapy
Effect of Allium sativum extract on human PBMC proliferation. CD4 T cell division was evaluated by CFSE staining and flow cytometry when PBMCs were treated with or without A.S. at two different doses in the absence or presence of PHA (a) or Okt-3 mAb (b). CD8 T cell division assessed by CFSE staining and flux cytometry within PBMCs treated with or without A.S. at two doses in the absence or presence of PHA (c) or Okt-3 mAb (d). Data shown are representative of 4 independent experiments. Percentage of cell division was calculated with FlowJo software. Data are represented in mean ± S.D. and were analyzed using the one-way ANOVA test. (DOCX 278 kb
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