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光激酶C基因突变导致的大头精子畸形是阿尔及利亚男性不育症的最常见遗传因素

Asian Journal of Andrology 2015年第1期17卷 68-73,I0008页

作者： Leyla Ounis Abdelali Zoghmar Charles Coutton leila rouabah Maroua Hachemil Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Faure Sebti Benbouhedja Abdelkader rouabah Pierre F Ray Laboratoire de Biologie Moleculaire et Cellulaire Faculte des Sciences de la Nature et de la Vie Universite Constantine I Algerie Clinique Ibn Rochd Centre de Medecine de la Reproduction Constantine Algerie Universite Grenoble Alpes Grenoble France Equipe Genetique Epigenetique et Therapies de I'lnfertilitE CNRS AGIM Grenoble France Laboratoire de GEnetique Chromosomique CHU Grenoble Grenoble France Laboratoire de Biochimie et Genetique Moleculaire CHU Grenoble Grenoble France Equipe Muscle et Pathologies INSERM U836 Grenoble Institut des Neurosciences Grenoble France.

Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C （AURKCj and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of teratozoospermia particularly frequent among North African men. We carried out genetic analyses on Algerian patients, to evaluate the prevalence of these syndromes in this population and to compare it with the expected frequency of Klinefelter syndrome and Y-microdeletions. We carried out a retrospective study on 599 consecutive patients consulting for couple infertility at the assisted reproduction unit of the Ibn Rochd Clinique, Constantine, Algeria. Abnormal sperm parameters were observed in 404 men. Fourteen and seven men had typical macrozoospermia and globozoospermia profiles, respectively. Molecular diagnosis was carried out for these patients, for the AURKC and DPY19L2 genes. Eleven men with macrozoospermia had a homozygous AURKC mutation （79%）, corresponding to 2.7% of all patients with abnormal spermograms. All the men with globozoospermia studied （n = 5）, corresponding to 1.2% of all infertile men, presented a homozygous DPY19L2deletion. By comparison, we would expect 1.6% of the patients in this cohort to have Klinefelter syndrome and 0.23% to have Y-microdeletion. Our findings thus indicate that AURKCmutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. Furthermore, we estimate that AURKCand DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.

关键词： aurora kinase C DPY19L2 globozoospermia intracytoplasmic sperm injection infertility macrozoospermia

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Cross-Sectional Study of the Prevalence of Obesity Among Adults in Constantine

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Journal of Life Sciences 2012年第8期6卷 858-863页

作者： Souhai'la Dalichaouch-Benchaoui leila rouabah Nourredine Abadi Amira Sayed Fethi Tebbani Abdelkader rouabah Laboratory of Molecular Biology and Genetic CHU Constantine 25000 Algeria Laboratory of Cellular and Molecular Biology University of Mentouri Constantine CHU Constantine 25000 Algeria

In Algeria, as in all countries in the developing world, obesity has become more and more common in adults, suggesting a worsening of risk factors for cardiovascular disease and diabetes for these generations. This study aims to assess the prevalence of obesity by anthropometry in adults in the city of Constantine over the year 2010-2011, and to explore its relationship with certain determining factors. A cross-sectional study with cluster sampling and stratification on sex allowed us to estimate the frequency of all categories of BMI. For this purpose, 320 adults living in Constantine were interviewed. In 2011, the prevalence of obesity was 35.84%. Women are more affected by obesity than men (40.83% vs. 22.08%). The prevalence of abdominal obesity, according to IDF, was 81.0% for women vs. 56.2% for men; according to NCEP ATP III, it was 64.3% in women vs. 35.9% in men. Obesity is more common in families of low socioeconomic status. Similarly, level of education and obesity are inversely correlated. People who have a sedentary lifestyle are more likely to be obese than those who are physically active. Obesity is a serious condition that results in significant health care costs. There is a need to undertake epidemiological surveillance in childhood. Urgent preventive actions are required. Promotion of a healthy balanced diet and physical exercise is a priority in the prevention of obesity.

关键词：患病率横断面成年人肥胖心血管疾病以色列国防军流行病学监测生活方式

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