Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease

Genome wide association studies (GWAS) and their replications that have associated DNA variants with myocardial infarction (MI) and/or coronary artery disease (CAD) are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3), and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR = 0.68, p = 0.0035), while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR = 1.33, p = 0.0086). Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology

A comparison between multiple and single pregnancies obtained by in-vitro fertilization

Thirty-eight single and 10 multiple pregnancies obtained after in-vitro fertilization were compared. In the group of multiple gestations, maternal age was lower and the amounts of ovulatory drugs given were significantly smaller than in relation to single pregnancies. All multiple pregnancies arose from triple embryo transfers and the embryos from this group exhibited significantly higher vitality scores. In both groups, plasma levels of oestradiol and progesterone followed the same pattern until day 8 after oocyte retrieval. Following implantation, the secretion of these hormones increased more rapidly in multiple pregnancies pointing at greater luteal activity in this group. HCG levels became significantly higher in multiple gestation on day 25 after oocyte collection. Echographic examination showed that, compared to normal pregnancy, growth in both groups of IVF conceptuses was initially retarded but caught up with normal evolution at ~ 30 days after egg retrieval. The need for adjusting the number of embryos transferred not only to expected success rates but also to the risk of high rank multiples is emphasized.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Estimation de la fréquence des thalassémies hétérozygotes chez les immigres d'origine méditerranéenne vivant dans la région bruxelloise. Définition d'une stratégie de dépistage

SCOPUS: NotDefined.jinfo:eu-repo/semantics/publishe

Lethal osteopetrosis with multiple fracturesin utero

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Intérêt du diagnostic chromosomique prénatal en cas d'anomalies foetales: résultats obtenus dans 468 grossesses pathologiques.

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

A case of partial sirenomelia and possible vitamin A teratogenesis

Prenatal echographical findings of a partial sirenomelic fetus are described. An attempt was made to terminate pregnancy by administration of prostaglandin F2 alpha, but uterine rupture occurred. The teratogenic role of vitamin A ingested by the mother in the periconceptional period is discussed.Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jFLWNAinfo:eu-repo/semantics/publishe

Lethal osteopetrosis with multiple fractures in utero.

Severe osteopetrosis was diagnosed in utero in two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.Case ReportsJournal Articleinfo:eu-repo/semantics/publishe