[The global cardiovascular risk of patients with schizophrenia hospitalized in psychiatry at the university hospital of Saint-Étienne]. / Le risque cardiovasculaire global des patients atteints de schizophrénie hospitalisés en psychiatrie au CHU de Saint-Étienne.

CONTEXT: Patients suffering from schizophrenia present with a risk of cardiovascular death which is two to three times as high as the general population. OBJECTIVES: Our study aims to evaluate the global cardiovascular risk according to SCORE and Framingham on patients suffering from schizophrenia who have been hospitalized in psychiatric institutions and also to assess whether being under the care of a physician affects that risk. METHODS: A prospective descriptive epidemiologic study was conducted from April 2005 to March 2016. The study population consisted of adult patients suffering from schizophrenia who were hospitalized in the psychiatric unit of the CHU de Saint-Étienne. The data was collected during the clinical admission examination. The software CARDIORISK was used to compute the global cardiovascular risk according to SCORE and Framingham. RESULTS: The average cardiovascular risk was about four times as high for males as it was for females according to the SCORE model and twice as high according to the Framingham model. According to the SCORE model, 16.5 % of the patients presented a high cardiovascular risk versus 6.6 % according to the Framingham model. There was no statistically significant difference between patients who were under the care of a physician and those who were not, both in terms of the prevalence of the risk factors and in terms of the global cardiovascular risk. CONCLUSION: Using the global cardiovascular risk approach as a primary prevention measure could allow patients suffering from schizophrenia to be admitted earlier. Also, regularly reevaluating that risk could allow initiation of behavioral changes and/or important cardiovascular treatments.

Genetics of breast cancer in African populations: a literature review.

Breast cancer (BC) is one of the most complex, diverse and leading cause of death in women worldwide. The present investigation aims to explore genes panel associated with BC in different African regions, and compare them to those studied worldwide. We extracted relevant information from 43 studies performed in Africa using the following criteria: case-control study, association between genetic variations and BC risk. Data were provided on mutations and polymorphisms associated with BC without fixing a specific date. Case-only studies and clinical trials were excluded. Our study revealed that the majority of African BC genetic studies remain restricted to the investigation of BRCA1 and BRCA2 genes and differences in their mutations spectrum. Therefore, it is necessary to encourage African researchers to characterize more genes involved in BC using methods generating global information such as next-generation sequencing in order to guide specific and more effective therapeutic strategies for the African community.

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families, for ATM gene mutations. All our patients showed ataxia, ocular telangiectasia, and immunodeficiency, as well as elevated serum alphafetoprotein levels. Mean age at diagnosis was 5.51 years, and consanguinity rate was 81.8 %. Mean age at onset was 2.02 years, and mean time to diagnosis was 3.68 years. We found 14 different mutations in 19 unrelated families, of which 7 were not reported. Our results showed that c.5644C>T mutation was the most common in our series. However, further studies are required to demonstrate a founder effects on ATM gene in Moroccan patients, who showed mutational heterogeneity otherwise. Our data indicate that direct sequencing of coding exons is sufficient for a high detection rate in ATM in Moroccan population.