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Introduction: Vitamin D plays a role in regulating the immune response through an immunomodulatory effect, and is probably involved in the pathophysiology of Crohn's disease (CD).

Aim: to assess vitamin D status in patients with CD as well as in healthy controls and to determine associated factors of vitamin D deficiency in patients with CD.

Methods: We conducted a prospective study over 18 months, including CD patients with age and sex matched with healthy controls.

The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.

Introduction: Type 2 diabetes (T2D) is a multifactorial disease involving genetic and environmental components. Several genome-wide association studies (GWAS) have been conducted to decipher potential genetic aberrations promoting the onset of this metabolic disorder. These GWAS have identified over 400 associated variants, mostly in the intronic or intergenic regions.

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.

Monogenic diabetes (MD) accounts for 3%-6% of all cases of diabetes. This prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 diabetes. Hence, genetic testing is the most appropriate tool for obtaining an accurate diagnosis.

Marine toxin C17-SAMT causes major structural damage to vital organs in mice following subchronic toxicity trials.

C17-sphinganine analog mycotoxin (C17-SAMT) has been characterized as the contaminant responsible for the atypical toxicity reported in mussels from the Bizerte lagoon (northern Tunisia) over the past decade. C17-SAMT exhibited common symptoms of toxicity in mice, including flaccid paralysis and severe respiratory distress, followed by rapid death. To determine the potential health risks of this neurotoxin, we assessed its subchronic toxicity according to the recommendations of OCDE n° 407.

Vitamin D in healthy Tunisian population: Preliminary results.

Background: Vitamin D deficiency is one of the most common medical conditions worldwide. In Tunisia, several studies evaluated Vitamin D status, but this was concerning specific populations (pregnant women, obese or diabetic patients and children with asthma). The only study that evaluated Vitamin D status in a healthy Tunisian population was conducted by Meddeb and associeties in 2002.

Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.

Background: Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of HNF1A gene and haplotypes with the metabolic syndrome (MetS) and its components through an association study in the Tunisian population as well as by a meta-analysis.

Methods: A total of 594 Tunisian individuals were genotyped for three variants (rs1169288, rs2464196 and rs735396) located in HNF1A gene using KASPar technology.

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.

Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes. In the present study, we report the case of a young diabetic Tunisian patient presenting learning problems, speech deficits, short stature, brachydactyly, and a normal weight. Whole exome sequencing analysis revealed five heterozygous genetic variants in , and .

New Markers of Bone Fragility in Hemodialysis Patients: A Monocentric Study.

Introduction: Mechanisms underlying bone fragility in patients under dialysis are various. The assessment of bone disorder is not yet codified in these patients. Our study aimed to determine the relationship between the serum fibroblast growth factor 23 (FGF23) level and bone fragility.

Association of rs662799 variant and APOA5 gene haplotypes with metabolic syndrome and its components: a meta-analysis in North Africa.

Apolipoprotein A5 (APOA5) has been linked to metabolic syndrome (MetS) in several populations. In North Africa, only the Tunisian and Moroccan populations were investigated. Our aim is to assess the association between APOA5 gene variant (rs662799) and haplotypes with MetS in Tunisian population and to perform a meta-analysis in North Africa.

Mineral bone disorder and osteoporosis in hemodialysis patients.

Background: Bone disease is common in patients undergoing hemodialysis. It is the result of bone turnover abnormalities and the decrease of bone mineral density (BMD). We aimed to determine the usefulness of serum bone turnover markers and BMD measurement by dual-energy x-ray absorptiometry (DXA) in hemodialysis patients.

Correlation of Fgf23 and Balp with Bone Mineral Density in Hemodialysis Patients.

Background: Chronic kidney disease (CKD) is associated with numerous complications such as bone mineral disorder. The aim of our study was to analyze the correlation of bone turnover markers with Bone Mineral Density (BMD) measurements in Tunisian end stage renal diseases (ESRD) patients.

Methods: This study included 100 ESRD Tunisian patients.

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.

Aims: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim was investigating MODY by means of next-generation sequencing in the Tunisian population.

A cross sectional study of bone and cartilage biomarkers: correlation with structural damage in rheumatoid arthritis.

The aim of our study was to assess the relationship between bone and cartilage remodeling biomarkers and joint damage in Rheumatoid Arthritis (RA), and to detect whether they have the capacity to predict the progression of joint disease assessment by computed tomography (CT) erosion score. We analyzed 65 female patients with established RA in our Rheumatology Department. Serum levels of bone and cartilage markers were measured: osteocalcin (OC), N-propeptide of type I collagen (PINP), collagen type I and II, C-telopeptide (CTX I, CTX-II) and cartilage oligomeric matrix protein (COMP).

FGF 23, PTH and vitamin D status in end stage renal disease patients affected by VDR FokI and BsmI variants.

Objectives: The aim of this study was to evaluate the association between two VDR SNPs FokI and BsmI and mineral status in ESRD patients.

Design And Methods: Our case-control study included 100 patients with chronic renal failure in ESRD and 149 healthy subjects. We measured the serum Vitamin D levels and the serum intact PTH level by Electrochemiluminescence Technology (cobas E411 analyzer).

Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population.

Aim Of The Study: APOA5 has been linked to metabolic syndrome (MetS) or its traits in several populations. In North Africa, only the Moroccan population was investigated. Our aim is to assess the association between APOA5 gene polymorphisms with the susceptibility to MetS and its components in the Tunisian population.

Prevalence of vitamin D deficiency in mothers and their newborns in a Tunisian population.

Objective: To assess vitamin D status in mothers and their newborns and identify predictive factors of vitamin D deficiency.

Methods: A cross-sectional study was undertaken of healthy women and their full-term newborns delivered at the Charles Nicolle Hospital, Tunis, Tunisia, between October and November 2012. Maternal and neonatal serum 25-hydroxy vitamin D (25(OH)D) concentrations were measured.

[The role of type II collagen fragments and X-ray progression of knee osteoarthritis].

Aims: To investigate the association between type II collagen fragments and the presence of knee osteoarthritis (OA) in the Tunisian population and to determine whether this biomarker can predict X-ray progression of this disease.

Methods: Type II collagen C-telopeptide (uCTX-II) and helical peptide (sHelix-II) were assessed in 125 female patients with knee osteoarthritis aged 54 ± 8 years over 2 years and 57 female age-matched controls. The markers were measured at baseline, 1 and 2 yrs' follow-up corresponding to x-ray time points.

Prevalence of hemoglobin variants in a diabetic population at high risk of hemoglobinopathies and optimization of HbA1c monitoring by incorporating HPLC in the laboratory workup.

Background: In Tunisia, diabetes mellitus and hemoglobinopathies are major public health problems. Glycated hemoglobin (HbA1c) is recommended for long-term monitoring of diabetes mellitus, but the presence of hemoglobin variants may interfere with HbA1c measurement. The aim was to determine the prevalence of hemoglobin variants in Tunisian diabetics and optimize the monitoring of diabetics using HbA1c.

[Prevalence of non-conventional cardiovascular risk factors in Tunisian diabetics].

Background: The cardiovascular risk appears very early in the history of diabetes mellitus and is related not only to hyperglycemia but mainly to the other risk factors associated to diabetes mellitus.

Objective: To evaluate the prevalence of non-conventional cardiovascular risk factors in a Tunisian diabetic population.

Patients And Methods: The prospective study enrolled 120 type 2 diabetic patients recently diagnosed and 60 healthy people, sex and age matched.

Advantage of HbA1c assay by HPLC D-10 versus cobas integra 400 in a population carrier for HbS and HbC.

Background: Several studies demonstrate significant bias in analytical methods used to measure glycohemoglobin. The clinical importance of that fact is evident when HbA1c overestimation leads to aggressive glucose management, resulting in more frequent hypoglycaemic episodes. Our study was aimed to compare two automated instruments (Integra 400 and D-10) in the evaluation of HbA1c in the Tunisian population.

Increased urinary type II collagen C-telopeptide levels in Tunisian patients with knee osteoarthritis.

Unlabelled: Osteoarthritis is characterized by a progressive degeneration of articular cartilage and loss of joint function. Clinical assessment of osteoarthritis is hampered by the lack of accurate measures of disease and disease progression, especially during the early stage.

Background: To investigate urinary C-telopeptide fragments of type II collagen (CTX-II) levels in knee osteoarthritis in the Tunisian population compared with controls and to assess the association between this biomarker and radiological signs.