University St Joseph

Beirut, Lebanon

University St Joseph

Beirut, Lebanon
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Marduel M.,French Institute of Health and Medical Research | Marduel M.,University of Paris Descartes | Ouguerram K.,University of Nantes | Serre V.,French Institute of Health and Medical Research | And 26 more authors.
Human Mutation | Year: 2013

Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low-density lipoproteins (LDLs). We now report an exceptionally large family including 14 members with ADH. Through genome-wide mapping, analysis of regional/functional candidate genes, and whole exome sequencing, we identified a mutation in the APOE gene, c.500_502delTCC/p.Leu167del, previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain, (2) a decreased apo E level in LDLs, and (3) a decreased catabolism of LDLs. Our results show that mutations in the APOE gene can be associated with bona fide ADH. © 2012 Wiley Periodicals, Inc.

Askri B.,University of Limoges | Bouhlila R.,National Engineering School of Tunis | Job J.O.,University St Joseph
Journal of Hydrology | Year: 2010

In modern oases situated in the south of Tunisia, secondary salination of irrigated lands is a crucial problem. The visible salt deposits and soil salination processes are the consequence of several factors including the excessive use of saline irrigation water, seepage from earthen canal systems, inefficient irrigation practices and inadequate drainage. Understanding the mechanism of the secondary salination is of interest in order to maintain existing oases, and thus ensure the sustainability of date production in this part of the country. Therefore, a conceptual, daily, semi-distributed hydrologic model (OASIS_MOD) was developed to analyse the impact of irrigation management on the water table fluctuation, soil salinity and drain discharge, and to evaluate measures to control salinity within an oasis ecosystem. The basic processes incorporated in the model are irrigation, infiltration, percolation to the shallow groundwater, soil evaporation, crop transpiration, groundwater flow, capillary rise flux, and drain discharge. OASIS_MOD was tested with data collected in a parcel of farmland situated in the Segdoud oasis, in the south-west of Tunisia. The calibration results showed that groundwater levels were simulated with acceptable accuracy, since the differences between the simulated and measured values are less than 0.22 m. However, the model under-predicted some water table peaks when irrigation occurs due to inconsistencies in the irrigation water data. The validation results showed that deviations between observed and simulated groundwater levels have increased to about 0.5 m due to under-estimation of groundwater inflow from an upstream palm plantation. A long-term simulation scenario revealed that the soil salinity and groundwater level have three types of variability in time: a daily variability due to irrigation practices, seasonal fluctuation due to climatic conditions and annual variability explained by the increase in cultivated areas. The irrigation interval was found to be important with irrigating once each ten days leading to soil salinity increase during the dry summer season and to a rising water table during the autumn-winter period. The annual increase in the irrigated area caused a decrease of the irrigation water depths, and thus an augmentation of the soil and groundwater salinities. The surface area affected by a soil salinity concentration above 15 g/L has increased from 2% of the study parcel area in June 1992 to about 50% four years later due to the abandonment of several cultivated basins. © 2009 Elsevier B.V. All rights reserved.

Daher W.,Montpellier University | Daher W.,University St Joseph | Pistre S.,Montpellier University | Kneppers A.,Schlumberger | And 3 more authors.
Journal of Hydrology | Year: 2011

Managed Aquifer Recharge (MAR) is an emerging sustainable technique that has already generated successful results and is expected to solve many water resource problems, especially in semi-arid and arid zones. It is of great interest for karst aquifers that currently supply 20-25% of the world's potable water, particularly in Mediterranean countries. However, the high heterogeneity in karst aquifers is too complex to be able to locate and describe them simply via field observations. Hence, as compared to projects in porous media, MAR is still marginal in karst aquifers.Accordingly, the present work presents a conceptual methodology for Aquifer Rechargeability Assessment in Karst - referred to as ARAK. The methodology was developed noting that artificial recharge in karst aquifers is considered an improbable challenge to solve since karst conduits may drain off recharge water without any significant storage, or recharge water may not be able to infiltrate. The aim of the ARAK method is to determine the ability of a given karst aquifer to be artificially recharged and managed, and the best sites for implementing artificial recharge from the surface. ARAK is based on multi-criteria indexation analysis modeled on karst vulnerability assessment methods. ARAK depends on four independent criteria, i.e. Epikarst, Rock, Infiltration and Karst. After dividing the karst domain into grids, these criteria are indexed using geological and topographic maps refined by field observations. ARAK applies a linear formula that computes the intrinsic rechargeability index based on the indexed map for every criterion, coupled with its attributed weighting rate. This index indicates the aptitude for recharging a given karst aquifer, as determined by studying its probability first on a regional scale for the whole karst aquifer, and then by characterizing the most favorable sites. Subsequently, for the selected sites, a technical and economic feasibility factor is applied, weighted by the difficulties that could occur when trying to undertake a recharge operation at a selected site from the surface. Each site is finally rated by its rechargeability index - the product of two factors, the intrinsic rechargeability and the feasibility index. ARAK was applied to the region of Damour, Lebanon, on the Mediterranean coast where uncontrolled exploitation of public and private wells led to its partial salinization by seawater. A MAR system in Damour region represents an interesting solution to cope with salinization and the insufficiency of the resource. © 2011 Elsevier B.V.

Al-Shaikh F.S.,Arabian Gulf University | Sater M.S.,Arabian Gulf University | Finan R.R.,University St Joseph | Racoubian E.,St Marc Medical Center | And 3 more authors.
Reproductive Sciences | Year: 2013

Protein Z (PZ) deficiency due to anti-PZ autoantibodies and/or mutations in PZgene was linked with adverse pregnancy outcomes, including idiopathic recurrent miscarriage (IRM). We investigated the association of rs3024718, rs3024719, rs3024731, rs3024778, rs3024772, and rs3024735 (G79A) PZ variants and changes in PZ levels in 287 women with IRM, and 308 control women. Of the 6 single nucleotide polymorphisms (SNPs) analyzed, higher minor allele frequency of rs3024735 (G79A) and rs3024731 were seen in IRM cases than in control women. Significantly higher frequencies of rs3024735/G79A G/A and A/A (P<.001), rs3024719 G/A (P=.009), and rs3024731 A/A (P =.012), but not rs3024718 (P=.12), rs3024778 (P =.76), or rs3024772 (P=.27) genotype carriers were seen between IRM cases versus control women, respectively, and was linked with reduced PZ levels. Six-locus (rs3024718/rs3024719/rs3024778/rs3024731/rs3024735/rs3024772) PZhaplotypes analysis demonstrated increased frequency of GAGAAG and AGGTAG and reduced frequency of AGGTGC haplotypes in IRM cases, thereby conferring disease susceptibility and protective nature to these haplotypes, respectively. These results demonstrate that specific PZSNPs and haplotypes are significantly associated with IRM. © The Author(s) 2013.

Almawi W.Y.,Arabian Gulf University | Guarino B.D.,University of Genoa | Al-Sulaiti M.A.,Arabian Gulf University | Al-Busaidi A.S.,Arabian Gulf University | And 2 more authors.
Human Fertility | Year: 2013

We investigated the association of endothelial nitric oxide synthase (NOS3) polymorphisms rs2070744 (-786T> C), 27-bp repeat 4b/4a, rs1799983 (Glu298Asp), rs3918188 (-734C> A), and rs743507 (113G> A) with idiopathic recurrent miscarriage (IRM). This was a case-control study involving women with confirmed IRM (n = 296), and 305 age-and ethnically matched control women. NOS3 rs2070744, rs1799983, rs3918188, and rs743507 genotyping was done by TaqMan assays; NOS3 4b/4a genotyping was done by PCR-ASA. A higher frequency of-786C and 298Asp alleles was seen in IRM cases, which remained associated independently with IRM on multivariate analysis. Allele and genotype distribution of 4b/4a, rs3918188 (-734C> A) and rs743507 (113A> G) were comparable between IRM cases and control women. Taking homozygous wild-type genotype as a reference, regression analysis confirmed the association of Glu298Asp and-786T/C, and rs743507 homozygous carriers with IRM risk. Marked linkage disequilibrium was seen between tested NOS3 variants, thus allowing the construction of 5-locus [-786T> C/4b4a/Glu298Asp/-734C> A/113G> A] haplotypes. Taking the common T4bGCA haplotype as a reference, multivariate analysis confirmed the positive association of C4bTCG haplotype with IRM, after controlling for traditional covariates. Genetic variation at the NOS3 locus represents a genetic risk factor for increased susceptibility to IRM. © 2013 The British Fertility Society.

Al-Khateeb G.M.,Arabian Gulf University | Sater M.S.,Arabian Gulf University | Finan R.R.,University St Joseph | Mustafa F.E.,Arabian Gulf University | And 3 more authors.
Fertility and Sterility | Year: 2011

Objective: To evaluate the association of interleukin-18 (IL-18) promoter single-nucleotide polymorphisms rs1946519 (-656C/A), rs187238 (-137G/C), rs360718 (-119A/C), and rs360717 (-105G/A) and changes in IL-18 serum levels with recurrent spontaneous miscarriage (RSM). Design: Case-control study. Setting: Outpatient obstetrics and gynecology clinics. Patient(s): Women with confirmed RSM (n = 282), and 283 age- and ethnically matched controls. Intervention(s): None. Main Outcome Measure(s): IL-18 genotyping was accomplished by allelic discrimination assays; serum IL-18 levels were measured by ELISA. Result(s): The minor allele frequencies of rs360717 and rs1946519, but not rs360718 or rs187238, were higher in patients with RSM. Significant differences in the distribution of the rs360717 and rs1946519 genotypes were noted between patients and controls, and both rs360717 and rs1946519 IL-18 single-nucleotide polymorphisms showed significant association with RSM under additive, dominant, and recessive models. Lower serum IL-18 levels were seen between patients and controls and were more pronounced in rs360717 and rs1946519 heterozygous and homozygous genotypes. Four-locus (rs1946519/rs187238/rs360718/ rs360717) IL-18 haplotype analysis identified that the AGAA (Pc<.001), CGAA (Pc<.001), and ACAG (Pc=.018) haplotypes were associated with a reduction in IL-18 secretion and with increased RSM risk, after adjustments for body mass index, menarche, and gravida. Conclusion(s): These results demonstrated that reduced IL-18 levels and rs360717 and rs1946519 IL-18 variants are significantly associated with RSM. © 2011 American Society for Reproductive Medicine, Published by Elsevier Inc.

Sater M.S.,Arabian Gulf University | Finan R.R.,University St Joseph | Abu-Hijleh F.M.,Arabian Gulf University | Abu-Hijleh T.M.,Arabian Gulf University | Almawi W.Y.,Arabian Gulf University
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2012

Objective: To investigate the association of antibodies to β2-glycoprotein I (anti-β2GPI), cardiolipin (ACA), phosphatidylserine (anti-PS) and prothrombin (anti-PT) with recurrent spontaneous miscarriage (RSM). Study design: Case-control study involving 277 RSM cases and 288 controls: autoantibody levels were measured by ELISA. Differences between cases and controls were analyzed by nonparametric Mann-Whitney test, and logistic regression was used in analyzing the association of autoantibodies with RSM. Results: Anti-PS IgG, ACA IgM and IgG, and anti-PT IgM were significantly associated with RSM risk, and differential antibody association was noted according to BMI and primary and secondary RSM. Higher prevalence of elevated anti-PS IgG was seen in cases, with the strongest risk above the 99th percentile. For ACA IgM, 28 cases (10.1%) and 5 controls (1.7%) were positive, with increasing OR for increasing cut-off points, which was significant at antibody titers >99th percentile. For ACA IgG, 101 cases (36.5%) and 13 controls (4.5%) were positive, with graded increase in OR for increasing cut-off points, which was significant at titers >90th percentile (maximal at titers >99th percentile). For anti-PT, 23 cases (12.0%) and 9 controls (6.1%) were positive, with increased OR at titers >90th percentile. Regression analyses confirmed the independent association of anti-PS IgG, ACA IgM and IgG with RSM, and significant RSM risk was associated with high anti-PS IgG (P < 0.001) and ACA IgM (P < 0.001) titers, and a dose-dependent increase in RSM risk was seen with progressively increased ACA IgG titers. No significant association existed between anti-PT IgM and RSM. Conclusion: Elevated ACA IgM and IgG, and anti-PS IgG antibodies are positively associated with RSM. © 2012 Elsevier Ireland Ltd.

Finan R.R.,University St Joseph | Mustafa F.E.,Salmaniya Medical Complex | Al-Zaman I.,Salmaniya Medical Complex | Madan S.,Salmaniya Medical Complex | And 3 more authors.
American Journal of Reproductive Immunology | Year: 2010

Problem: We investigated the association of signal transducers and activators of transcription (STAT). 3 gene variants with idiopathic recurrent miscarriage (RM). Method of Study: A case-control study involving 189 RM patients and 244 control women was carried out. STAT3 (rs1053004 and rs1023023) genotyping was performed by allelic discrimination/real-time PCR method. Results: STAT3 rs1053004 C allele [OR (95% CI) = 1.60 (1.22-2.10)] and C/C genotype [OR (95% CI) = 3.42 (1.70-6.92)] were positively associated with RM. Two-locus (rs1053004/rs1053023) haplotype analysis revealed increased frequency of CG and CA haplotypes in RM patients, of which only CA haplotype (Pc = 0.020) remained positively associated with RM after applying the Bonferroni correction. This was confirmed by multivariate regression analysis (OR = 1.70; 95% CI = 1.17-2.46) after adjusting for a number of covariates. Conclusion: STAT3 rs1053004 variant is significantly associated with idiopathic RM. Replication studies on other racial groups and other STAT3 gene variants are warranted. © 2009 John Wiley & Sons A/S.

Saidi S.,University of Monastir | Mallat S.G.,University St Joseph | Almawi W.Y.,Arabian Gulf University | Mahjoub T.,University of Monastir
Acta Neurologica Scandinavica | Year: 2010

Background and purpose - Endothelial nitric oxide synthase (eNOS) gene polymorphisms were associated with reduced NO production, and were evaluated as risk factors for ischemic stroke (IS). We investigated the association between eNOS gene -786T>C (promoter), 27-bp repeat 4b/4a (intron 4), and Glu298Asp (exon 7) polymorphisms with IS in 329 IS patients and 444 controls. Materials and methods - Glu298Asp and -786T>C genotyping was done by PCR-RFLP, 4b/4a was assessed by PCR-ASA. The contribution of eNOS polymorphisms to IS was analyzed by haplotype and multivariate regression analysis. Results - Higher frequency of 298Asp allele was seen in IS patients (P = 1.2 × 10 -10), which remained independently associated with IS on multivariate analysis after controlling for traditional cerebrovascular risk factors. Allele and genotype distribution of 4b/4a and -786T>C polymorphisms were comparable between patient and controls. Significantly higher prevalence of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes were seen in IS cases, thus conferring a disease susceptibility nature to these haplotypes. Multivariate regression analysis confirmed the association of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes, and in addition identified 298Asp/4a/-786T haplotype to be independently associated with IS, after controlling for traditional cerebrovascular risk factors. Conclusions - Genetic variation at the eNOS locus represent genetic risk factor for increased susceptibility to IS. © 2009 Blackwell Munksgaard.

Sater M.S.,Arabian Gulf University | Finan R.R.,University St Joseph | Mustafa F.E.,Arabian Gulf University | Al-Khateeb G.M.,Arabian Gulf University | Almawi W.Y.,Arabian Gulf University
Journal of Reproductive Immunology | Year: 2011

Anti-annexin V antibodies have been identified as risk factors for recurrent spontaneous miscarriage (RSM) in some, but not all previous studies. We investigated the association between anti-annexin IgM and IgG in RSM cases and control women. Blood samples from 244 women with idiopathic RSM, and 283 multi-parous control women were tested for anti-annexin V antibodies by ELISA. A significant elevation in anti-annexin V IgM and IgG was seen in the RSM cases. An increased prevalence of elevated anti-annexin V IgM and to a lesser extent anti-annexin V IgG was seen in RSM patients. Receiver operating characteristic analysis indicated that the area under the curve for anti-annexin V IgM was 0.916, and for anti-annexin V IgG was 0.725. A systematic shift in anti-annexin V IgM and IgG distributions toward higher values occurred in RSM women, which was confirmed by percentile analysis. For each of the anti-annexin V isotypes, the adjusted odds ratio increased as the percentile value increased; the strongest risk was for anti-annexin V IgM, in which the 99th percentile (P99) was associated with a 165-fold higher risk than P50, and for anti-annexin V IgG where P99 was associated with a 38-fold higher risk than P50. In addition, a higher prevalence of elevated anti-annexin V IgM and anti-annexin V IgG was seen in RSM cases than in control women. We conclude that anti-annexin V IgM and IgG antibody positivity are independent risk factors for RSM. © 2011 Elsevier Ireland Ltd.

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