Neuro-meningeal cryptococcal infection revealing a multiple myeloma.

Rare cases of Cryptococcus have been documented in patients living with multiple myeloma. To date there has been no documented evidence of cryptococcosis revealing multiple myeloma. We reported a 63-year-old man who had a 2-months history continuous holocranial headaches, morning vomiting, complaining of blurred vision and fever.

[Disseminated intravascular coagulation: role of the International Society on Thrombosis and Haemostasis (ISTH) diagnostic scoring system].

Disseminated intravascular coagulation (DIC) is a life-threatening event during resuscitation. The International Society on Thrombosis and Haemostasis (ISTH) diagnostic scoring system enables early diagnosis of DIC. We here report three clinical cases of DIC characterized by several etiologies: prostatic adenocarcinoma, septic shock and retroplacental hematoma.

Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease.

Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD.

Association between an angiotensin-converting enzyme gene polymorphism and Alzheimer's disease in a Tunisian population.

Background: The angiotensin-converting enzyme gene (ACE) insertion/deletion (I/D or indel) polymorphism has long been linked to Alzheimer's disease (AD), but the interpretation of established data remains controversial. The aim of this study was to determine whether the angiotensin-converting enzyme is associated with the risk of Alzheimer's disease in Tunisian patients.

Methods: We analyzed the genotype and allele frequency distribution of the ACE I/D gene polymorphism in 60 Tunisian AD patients and 120 healthy controls.

The Plasminogen Activator Inhibitor 1 4G/5G Polymorphism and the Risk of Alzheimer's Disease.

Objective: The aim of this study was to determine whether plasminogen activator inhibitor 1 (PAI-1) is associated with the risk of Alzheimer's disease (AD) in Tunisian patients.

Design And Methods: We analyzed the genotype and allele frequency distribution of the PAI-1 polymorphism in 60 Tunisian patients with AD and 120 healthy controls.

Results: The results show a significantly increased risk of AD in carriers of the 4G/4G and 4G/5G genotypes versus the wild-type 5G/5G genotype (4G/4G: 28.

HLA DRB1*03 as a possible common etiology of schizophrenia, Graves' disease, and type 2 diabetes.

Background: Autoimmune diseases and schizophrenia share many common features. Association studies confirm a shared genetic association in the human leukocyte antigen (HLA) region between schizophrenia and most autoimmune diseases. To our knowledge, the simultaneous syndromes of Graves' disease (GD) and type 2 diabetes (T2D) in schizophrenia are rare in Tunisia.

The Effect of ACE I/D Polymorphisms Alone and With Concomitant Risk Factors on Coronary Artery Disease.

Background: Coronary artery disease (CAD), also known as atherosclerotic heart disease, is a leading cause of mortality and morbidity throughout the world. The role of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene in the etiology of CAD remains to be more completely clarified. The aim of this study was to determine the role of the ACE I/D polymorphism in patients with CAD and to study the association together with traditional risk factors in assessing the risk of CAD.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J.

Association Between Thrombophilic Gene Mutations and the Risk of Vascular Access Thrombosis in Hemodialysis Patients.

The cause of thrombosis in hemodialysis vascular access is considered to be of a multifactorial nature, including stenosis of the venous or arterial connection. Therefore, identification of relevant thrombotic risk factors could lead to an improved antithrombotic therapy. This case control study was performed to evaluate the relationship between Factor V (G1691A and A4070G) and Factor II polymorphisms and vascular access thrombosis in hemodialysis patients.

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case-Control Study.

Apolipoprotein E ( APOE) is a member of the apolipoprotein gene family. APOE is polymorphic with 3 main allelic types: ∊2, ∊3, and ∊4. Certain of these alleles have been associated with higher vascular risk.

Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients.

Objective: The present study evaluated the role of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and correlated these results with plasma homocysteine (Hcy) levels in Tunisian ischemic stroke (IS) patients.

Methods: Overall, 84 patients with IS were included and compared with 100 healthy controls. The most common stroke risk factors were investigated.

Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients.

Background And Objective: Multiple sclerosis (MS) is a chronic neurological disease characterized by central nervous system (CNS) inflammation and demyelination of nerve axons. The aim of this study was to investigate a possible association between the methylenetetrahydrofolate reductase (MTHFR) gene and multiple sclerosis in Tunisian patients.

Patients And Methods: The genotyping of two missense variants of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C was performed in 80 multiple sclerosis patients and 200 healthy controls.

Association of HLA-DR-DQ polymorphisms with diabetes in Tunisian patients.

Objective: Type 1 diabetes (T1D) is a polygenic disease whose principal locus is the human leukocytes antigen (HLA) region. The aim of this study was to evaluate HLA DR-DQ alleles and to asses them as risk factors for type 1 diabetes in the Tunisian population.

Materials And Methods: A total of 119 subjects with diabetes were tested for HLA class II alleles and compared with 292 healthy controls.

Role of methylenetetrahydrofolate reductase A1298C polymorphism in cerebral venous thrombosis.

The association between the methylenetetrahydrofolate reductase (MTHFR) gene and cerebral venous thrombosis (CVT) remains controversial. This study principally investigated the potential role of the MTHFR A1298C variant and CVT. The genotyping of the A1298C variant of the MTHFR gene was performed in 35 CVT patients and 200 healthy controls.

Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acute coronary syndrome among Arab-African Tunisians.

The importance of the extrinsic haemostatic system, of which factor VII/VIIa (FVII/FVIIa) is a key constituent, in acute coronary syndrome (ACS) is well recognized. The contribution of FVII gene variants R353Q and -323P0/10, and altered FVII plasma levels to the risk of ACS was investigated in a North African Tunisian Arab cohort consisting of 308 ACS cases and 312 age-, gender- and ethnically-matched control subjects; FVII antigen levels were determined by ELISA. Regression analysis was used in assessing the association of FVII variants and changes in FVII levels to the overall risk of ACS.

Contribution of JAK2 and STAT3 variants to the genetic susceptibility of recurrent miscarriage among Bahraini and Tunisian Arabs.

We investigated the contribution of JAK2 rs2203724 and STAT3 rs1053023 and rs1053004 to the susceptibility of idiopathic recurrent miscarriage (IRM) in Bahraini (246 cases and 279 controls) and Tunisian (235 cases and 235 controls) Arabs. The distribution of JAK2 rs2203724 and STAT3 rs1053023 genotypes were in Hardy-Weinberg equilibrium (HWE) in both communities, while mild deviation from HWE was noted for rs1053004 in Tunisians but not Bahraini. JAK2 rs2203724 was not associated with IRM in either community, while STAT3 rs1053023 was positively associated with IRM in both Bahraini and Tunisian women.

Thrombophilic polymorphisms - factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T - in Tunisian patients with cerebral venous thrombosis.

Cerebral venous thrombosis (CVT) has been associated with thrombophilic defects. We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients. A single center case-control study (26 patients with CVT and 197 controls) was performed.

Lack of association between factor V Leiden and prothrombin G20210A polymorphisms in Tunisian subjects with a history of myocardial infarction.

Background: Myocardial infarction is a multifactorial disease. It is provoked by occlusions in the coronary arteries resulting from exposure to multiple risk factors.

Objective: To study the risk of myocardial infarction associated with the gene polymorphisms of factor V Leiden and factor II (G20210A).

Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies.

Our aim in this study was to investigate the association between elevated homocysteine levels and the two MTHFR polymorphisms, C677T and A1298C, with several pregnancy complications such as recurrent pregnancy loss, preeclampsia, placental abruption and intrauterine growth retardation. In 203 women with different placental vasculopathies, we determined the MTHFR C677T and the A1298C prevalence and their relative association to elevated homocysteine levels. The mean plasma homocysteine level was significantly higher in the pathologic groups when compared with the control group.

-174G>C interleukin-6 gene polymorphism in Tunisian patients with coronary artery disease.

Background And Objectives: A state of low-grade inflammation accompanies the pathogenesis of atherosclerotic events. Interleukin-6 (IL-6) is a pleotropic pro-inflammatory cytokine that modulates the development of acute coronary syndromes (ACSs), partly by destabilizing coronary atherosclerotic plaques. We have examined the contribution of the -174G>C IL-6 promoter variant on the risk of coronary artery disease (CAD) among Tunisians.

Hyperhomocysteinemia, C677T MTHFR polymorphism and ischemic stroke in Tunisian patients.

Background: Hyperhomocysteinaemia has been identified as a strong risk factor for ischemic stroke (IS). A point mutation in methylene tetrahydrofolate reductase (MTHFR C677T) has been associated with increased plasma homocysteine (Hcy) levels.

Aim: This preliminary study aimed to investigate whether hyperhomocysteinaemia and/or MTHFR C677T mutation are associated with ischemic stroke.

TNF-alpha -308G>A and IL-6 -174G>C polymorphisms in Tunisian patients with coronary artery disease.

Objective: Our aim was to evaluate the contribution of tumor necrosis factor (TNF)-alpha -308G>A and interleukin (IL)-6 -174G>C gene promoter variants to the presence of coronary artery disease (CAD) in Tunisians.

Design And Methods: Study subjects comprised 418 angiographically proven CAD patients and 406 age-, gender-, and ethnic origin-matched controls. Genotyping was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.

-308G>A and -1031T>C tumor necrosis factor gene polymorphisms in Tunisian patients with coronary artery disease.

Background: Recent research has shown that inflammation plays a key role in coronary artery disease (CAD) and other manifestations of atherosclerosis. Several lines of evidence support a key role for tumor necrosis factor-alpha (TNF-alpha), a potent immunomodulator and pro-inflammatory cytokine, in the development of atherosclerosis and in complications of CAD.

Methods: We investigated the possible association between CAD and the TNF gene promoter polymorphisms -308G>A and -1031T>C in a Tunisian population.

Distinct association of factor V-Leiden and prothrombin G20210A mutations with deep venous thrombosis in Tunisia and Lebanon.

Factor V G1691A (FV-Leiden) and prothrombin (PRT) G20210A single nucleotide polymorphisms (SNPs) were associated with venous thrombosis among Caucasians. We assessed the contribution of both SNPs to the genetic susceptibility of deep venous thrombosis (DVT) among Lebanese and Tunisian patients. Subjects comprised 198 DVT patients and 540 healthy controls from Lebanon and 126 Tunisian DVT patients and 197 control subjects; FV-Leiden (MnlI) and PRT G20210A (HindIII) genotyping was done by PCR-RFLP.