The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Croissance pondérale de la naissance à deux ans d’enfants de la province de Marrakech

De la naissance à l’âge adulte, la croissance est un phénomène ininterrompu, de vitesse irrégulière. Programmée génétiquement (Vanderberg et Falkner, 1965), elle est sensible aux conditions de l’environnement (Eveleth et Tanner, 1976a et b) comme l’alimentation, le milieu pathogène (Rowland et al, 1977), ou encore l’ambiance psychoaffective (d’Agostino et Raimbault, 1979). Certains facteurs comme le revenu et la dimension de la famille (Benech et al., 1960 ; Olivier et al., 1970), le niveau d..

Chapitre premier. Parenté généalogique et isonymie dans une population marocaine (vallée d’Azgour)

Cette étude généalogique et patronymique de la population de la vallée d’Azgour (Wilaya de Marrakech, Maroc) a été menée afin d’en apprécier le degré d’isolement, d’y estimer les taux de consanguinité proche et éloignée, d’évaluer le niveau d’endogamie (endogamie villageoise ou de la vallée), ainsi que les dimensions de l’aire matrimoniale. L’intérêt de cette confrontation de l’approche patronymique et de l’approche généalogique est de permettre de pallier les carences d’une information démog..

Fécondité, mortalité et possibilité d’accès aux soins sanitaires dans une population du Haut-Atlas (Azgour, cercle d’Amizmiz, Marrakech)

Introduction Le Maroc, comme d’autres pays en voie de développement, connaît une croissance démographique rapide. Conscient des effets d’une telle croissance, le gouvernement marocain a organisé des programmes sanitaires visant à diminuer la mortalité infantile par l’amélioration des conditions sanitaires et à réduire la fécondité par la sensibilisation des couples à la pratique de la planification familiale. Pour saisir l’impact de ces programmes sur les comportements féconds des femmes et s..

Body Dissatisfaction and Associated Factors: A Study of a Group of Moroccan Adolescents’

No Abstrac

Body image perceptions and avoidance behaviours among a Moroccan group of adolescents

Background Adolescents are a vulnerable group to body dissatisfaction that causes unhealthy attitudes and behaviours. It has been shown that many factors affect body image dissatisfaction. Aim To describe body image size perception, degree of body dissatisfaction, avoidance behaviours, and their relationship with gender, age, and weight status, and to assess the relationship between body dissatisfaction and avoidance behaviours among a group of Moroccan adolescents. Subjects and methods This cross-sectional survey was comprised of a sample of 487 adolescents. Stunkard’s Figure Rating Scale was used to assess perceptions of current and ideal body image and body dissatisfaction. Body Image Avoidance Questionnaire was employed to assess avoidance behaviours. Results Body dissatisfaction was found to be strongly associated with weight status in both male and female adolescents. Avoidance behaviours were positively associated with gender, age, weight status, and body dissatisfaction. Indeed, avoidance behaviours were frequently reported among females, young adolescents, those with high BMI z-score, and those seeking to lose weight. Adolescents tended to behave under the influence of two factors: clothing and weighing-grooming. Conclusion Weight status is an important factor that deeply impacts adolescent body dissatisfaction. Adolescents resort to behaviour avoidance and physical appearance control to cope with body dissatisfaction

Pregnancy morbidity: Situation and determinants in the province of Essaouira - Morocco-

Pregnancy-related morbidity is a public health problem. The main aim of this study is to assess the prevalence of maternal morbidity among childbearing women in Essaouira province (Morocco) and to determine the associated factors. A cross-sectional descriptive and analytical study conducted by questionnaire, surveyed 1184 married women aged between 18 to 49 years. The prevalence of pregnancies morbidity is 55.9% (662/1184). The mains determinants identified is sexually transmitted infections (STIs) with 50.1% and anaemia with 45.8%. Also, based on the multinomial logistic regression model, the socio-economic level, antenatal care regularity and precocity, pregnancies risks knowledge, distance from health care facilities and place of residence determine the pregnancies morbidity independently. In conclusion, Morocco must address family living conditions, health education, literacy, and other social determinants of health

Determinants of access to primary health care for the elderly in the province of Essaouira

Morocco is experiencing demographic and epidemiological changes marked by an increase in the proportion of elderly people accompanied by a growing prevalence of chronic diseases and disabilities, thus leading to an increase in the demand for health care. the Moroccan health system therefore faces the challenge of meeting the specific needs of older populations in terms of access to and use of health care services. To achieve this, the World Health Organisation (WHO) recommends a community-based approach, based on primary health care facilities (PHCFs), to the provision of services for older people. This is a descriptive, cross-sectional study based on a quantitative approach. The survey was carried out via a questionnaire intended for a sample of 739 people aged 60 years and over attending the ESSPs in the province of Essaouira between January and February of the year 2020. Our study has allowed us to understand the determinants related to the use of PHC by the elderly in the province of Essaouira. These determinants concern the characteristics of the elderly as well as the organisational and institutional aspects of the care offer. The bivariate analysis of the results showed a statistically significant association between the use of PHC by the elderly and the area of residence, gender, level of education, distance travelled to health facilities, quality of reception, and availability of medicines. Policymakers are called upon to consider the determinants of the use of PHC in order to better address the health needs of older people, and also to respond to WHO guidance in this area

Evolution de la croissance durant la décennie 1982-1992 des enfants scolarisés de la ville de Marrakech (Maroc)

A travers cette étude, nous avons tenté d'appréhender la correspondance entre l'amélioration des conditions de vie de la population et quelques variables anthropométriques et biologiques en comparant les résultats de deux enquêtes transversales sur la croissance réalisées entre 1980-1982 et en 1991 dans les établissements scolaires de Marrakech. Ces deux enquêtes ont touché respectivement 1206 (595 garçons ; 50,7% et 595 Filles ; 49,3%) et 1144 enfants (585 garçons ; 51,1% et 559 filles ; 48,9%), âgés de 6 à 17 ans. Les courbes des moyennes de la taille révèlent un accroissement en faveur des enfants examinés en 1991. En effet, ces enfants sont, en moyenne, plus longs que leurs homologues examinés en 1981-1982. Egalement, il ressort de cette comparaison une évolution séculaire positive sur le poids, les dimensions corporelles en longueur et en largeur et l'âge médian aux premières règles au cours de cette décennie