Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied.

Epidemiological and clinical characteristics of 66 Tunisian Sickle cell syndrome patients.

Introduction: Sickle cell syndrome (SCS) represent a real health problem. In this work, we propose to study the epidemiological and clinical features of 66 patients with SCS.

Methods: This is a retrospective descriptive cross-sectional study carried out on a population of 66 patients with SCS, (36 S/S, 18 S/β-thalassemia, seven S/C and five S/O), over a period of two years.

Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.

Background: Hemoglobinopathies, inherited disorders of hemoglobin (Hb), are the most common hereditary monogenic diseases of the red cell in the world. Few studies have been conducted on hemoglobinopathies in Mauritania. Therefore, the aim of this work is to establish the molecular and epidemiological basis of hemoglobinopathies in a cohort of Mauritanian patients and to determine the haplotype of the β-globin gene cluster in sickle cell subjects.

Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.

Background: Thalassemia is one of the most prevalent worldwide autosomal recessive disorders characterized by a great molecular and clinical expression heterogeneity. Alpha and beta-thalassemia are the main two types observed in case of mutations affecting alpha and beta-globin genes respectively. Delta-thalassemia is noted when mutations occur on the delta-globin gene.

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.

Background & Objectives: Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane regulator (CFTR) protein, a chloride channel located in the epithelial cell membrane. Over than 2,000 CFTR mutations have been identified, which contribute to the variety of clinical phenotypes of CF. We performed a case-control study to determine p.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

Association of II Polymorphism in and (894G/T and -786T/C) Polymorphisms in eNOS Gene With Stroke Susceptibility in Tunisian Patients α2 Gene Polymorphism in α2β1 Integrin and eNOS Gene Variants and Stroke.

Background: This study investigated the association of II polymorphism in α2β1 integrin gene () and eNOS (894G/T and -786T/C) polymorphisms with ischemic stroke (IS) in Tunisian patients.

Methods: The study comprised 210 patients with IS and 208 controls. The genotypes of the II polymorphism in and eNOS (894G/T and -786T/C) polymorphisms were determined using the PCR-RFLP.

Association analysis of the surfactant protein-C gene to childhood asthma.

Objectives: This study aims to describe the molecular variability in the gene in a childhood chronic respiratory disease, asthma, in the Tunisian population and to identify the implications based on a case-control study of p.Thr138Asn (T138N) and p.Ser186Asn (S186N) variants.

Glucose-6-phosphate dehydrogenase deficiency in Tunisian jaundiced neonates.

Background And Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy worldwide associated with hemolysis as well as neonatal jaundice, kernicterus, and even death. The goal of this study is to determinate the prevalence of G6PD deficiency in icteric neonates and to investigate its biochemical, hematological and molecular characteristics.

Patients And Methods: This cross sectional study was carried out on 154 icteric newborns admitted to the Bechir Hamza Children's Hospital in Tunisia.

Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.

Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study.

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.

Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in the reported data. The patient was referred to our hospital to explore a severe hypochromic and microcytic anemia.

Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study.

Introduction And Objectives: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them.

Clopidogrel utilization in patients with coronary artery disease and diabetes mellitus: should we determine CYP2C19*2 genotype?

Purpose: Clopidogrel non-responsiveness is multifactorial; several genetic and non-genetic factors may contribute to impaired platelet inhibition. The goal of this study is to determine the effect of the cytochrome P450 CYP2C19*2 polymorphism on the platelet response to clopidogrel in patients with and without diabetes mellitus (DM).

Methods: We conducted an observational study in patients with coronary artery disease and consequent exposure to clopidogrel therapy (75 mg/day for at least 7 consecutive days).

Association of MP6d9 Polymorphism with Clinical Variability in Cystic Fibrosis Patients.

Background: In this work, we are interested to study for the first time the extragenic polymorphic marker MP6d9 in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of MP6d9 polymorphism in the phenotypic variability of CF patients.

Methods: Our study enrolled 112 CF patients and 100 healthy controls. The analysis of the polymorphic marker MP6d9 was performed using the PCR-RFLP technique.

First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.

The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPÉ› is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid differentiation.

Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.

Introduction: Inherited abnormalities of fibrinogen (FG) are rare coagulation disorders divided into two types: quantitative abnormalities (afibrinogenemia and hypofibrinogenemia) or qualitative abnormalities (dysfibrinogenemia and hypo-dysfibrinogenemia) of circulating fibrinogen. In particular, congenital afibrinogenemia is inherited as an autosomal recessive mode and is usually determined by homozygous or compound heterozygous mutations affecting any of the three fibrinogen genes (FGA, FGB and FGG), resulting in the complete absence or extremely reduced amount of fibrinogen. The aim of the present study was to characterize the fibrinogen abnormalities in two Tunisian families.

Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum.

Autosomal dominant polycystic kidney disease: identification of two polymorphisms.

The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.

Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle-cell disease and sickle-cell thalassemia.

Background: In Tunisia, thalassemia and sickle cell disease represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively.