Fatty acids profile in preterm Colostrum of Tunisian women. Association with selected maternal characteristics.

Fatty acids (FA), especially arachidonic (AA, 20:4ω6) and docosahexaenoic (DHA, 22:6ω3) acids are critical for the health and development of infants. Colostrum FA composition has been examined in 101 lactating Tunisian women delivering prematurely using gas chromatography. Among polyunsaturated FA, linoleic acid predominated whereas each of the other polyunsaturated FA accounted for 1% or less of total FA. Colostrum AA and DHA contents were lower in women aged above 34 years compared to those less than 34 years. Preeclampsia was associated with lower DHA (0.40±0.22 vs. 0.53±0.27; p=0.018), but higher AA (1.14±0.44 vs. 0.93±0.30; p<0.006) and AA:DHA ratio (4.31±4.04 vs. 2.29±2.79; p<0.001). In multivariate analysis, colostrum DHA correlated with plasma DHA (ß, 0.417; p=0.002), maternal age (ß, -0.290; p=0.028) and preeclampsia (ß, -0.270; p=0.042). Preterm colostrum FA profile in Tunisian women is comparable to those of other populations. Colostrum AA and DHA levels are altered in aged and pre-eclamptic women.

Polymorphisms of the NOS3 gene in Tunisian patients with Behçet's disease.

Behçet's disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation and skin lesions. Reduced plasma nitric oxide (NO) levels in patients with BD have been implicated in the development of the endothelial abnormalities and thrombotic complications occurring in these patients. Polymorphisms in the endothelial nitric oxide synthase gene (NOS3) have been inconsistently associated with BD. This inconsistency may derive from population stratification secondary to ethnic diversity, and consideration limited to only one rather than combinations of polymorphisms. We studied three genetic variations in the NOS3 gene: a single nucleotide polymorphism in the promoter region -786T>C, in exon 7 (Glu298Asp), and a variable number of tandem repeats in intron 4 (4a4b) of the NOS3 gene in 100 unrelated Tunisian patients with BD and 148 healthy controls. In addition, we also examined the association of NOS3 gene haplotypes with BD. Analyses of the Glu298Asp, -786T>C and 4a4b polymorphisms were made by the polymerase chain reaction (PCR) restriction fragment length polymorphism technique and PCR genotyping, respectively. The distribution of the Glu298Asp genotype differed significantly between patients with BD and controls (P = 0.01). Allele Asp298 was significantly more frequent in patients with BD than in controls (P = 0.005, OR = 1.70, 95% CI 1.14-2.54). In contrast, distribution of alleles and genotypes of -786T>C and 4a4b polymorphisms was not different between the control and BD group. However, the frequency of Asp-T-4b haplotype was significantly higher in patients with BD than in healthy controls. By gender, the signification remained only for heterozygous men (P = 0.03) and homozygous women (P = 0.02). These results suggest that Glu298Asp polymorphism of the NOS3 gene is associated with BD susceptibility in Tunisian patients.

Urinary creatine at rest and after repeated sprints in athletes: a pilot study.

Creatine plays a key role in muscle function and its evaluation is important in athletes. In this study, urinary creatine concentration was measured in order to highlight its possible significance in monitoring sprinters. The study included 51 sprinters and 25 age- and sex-matched untrained subjects as a control group. Body composition was measured and dietary intake estimated. Urine samples were collected before and after standardized physical exercise. Creatine was assessed by gas chromatography mass spectrometry. Basal urinary creatine (UC) was significantly lower in sprinters than controls (34±30 vs. 74±3 µmol/mmol creatinine, p < 0.05). UC was inversely correlated with body mass (r = -0.34, p < 0.01) and lean mass (r = -0.30, p < 0.05), and positively correlated with fat mass (r = 0.32, p < 0.05). After acute exercise, urinary creatine significantly decreased in both athletes and controls. UC is low in sprinters at rest and further decreases after exercise, most likely due to a high uptake and use of creatine by muscles, as muscle mass and physical activity are supposed to be greater in athletes than untrained subjects. Further studies are needed to test the value of urinary creatine as a non-invasive marker of physical condition and as a parameter for managing Cr supplementation in athletes.

[Megalencephaly with dystonia revealing Canavan disease]. / Macrocéphalie avec dystonie révélant une maladie de Canavan.

Canavan disease, or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The disease results from the accumulation of N-acetyl aspartic acid in the brain, due to aspartoacylase deficiency. We report the case of a 6-month-old girl who presented with megalencephaly, peripheral hypertonia, and a developmental delay noticeable after 4 months of age. Magnetic resonance imaging of the brain with spectroscopy was suggestive of Canavan disease, which was confirmed by chromatography of urinary organic acids.

Unbalanced bone remodeling in Tunisian patients with inflammatory bowel diseases.

BACKGROUND: Bone loss is an ignored complication in inflammatory bowel diseases. Its underling mechanisms are not fully elucidated. OBJECTIVES: To investigate bone turnover in patients with inflammatory bowel diseases. METHODS: The study included 67 patients with inflammatory bowel diseases and 54 age- and sex-matched healthy subjects. Urinary degradation products of C-terminal telopeptide of type I collagen, serum osteocalcin, parathyroid hormone, 25 hydroxy vitamin D and interleukin-6 were assessed. Bone mineral density was measured by dual energy-X-ray absorptiometry and osteoporosis was defined as T score < -2.5 SD. RESULTS: Patients showed significantly higher levels of C-terminal telopeptide of type I collagen and interleukin-6 and lower levels of 25 hydroxy vitamin D. Serum osteocalcin and parathyroid hormone were in normal range. In multivariate analysis, urinary degradation products of C-terminal telopeptide of type I collagen were associated with disease activity (p=0.04) and osteocalcin was associated with parathyroid hormone (p=0.04). Urinary degradation products of Cterminal telopeptide of type I collagen and interleukin-6 were significantly increased in inflammatory bowel disease patients with osteoporosis. No association was found between osteoporosis and serum osteocalcin, parathyroid hormone and 25 hydroxy vitamin D. CONCLUSION: Bone resorption rate is increased and is associated with osteoporosis in inflammatory bowel disease patients. Inflammation, malnutrition, and hypovitaminosis D may contribute to the bone loss.

[Molecular diagnosis of Gaucher disease in Tunisia]. / Diagnostic moléculaire de la maladie de Gaucher en Tunisie.

Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid ß-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.

A novel 22bp deletion in a Tunisian phenylketonuria family.

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point mutations, few studies have been published about molecular defects of PKU in our country. In this study, we report a novel deletion in exon 6 of two brothers in a Tunisian family after DHPLC analysis and sequencing of the exon 6 of the PAH gene.

Prehypertension among adults in Great Tunis region (Tunisia): A population-based study.

PURPOSE: The present study aimed to determine the prevalence of prehypertension (preHTN) and its cardiometabolic profile in Tunisians, and to estimate the risk for coronary heart disease (CHD) according to blood pressure status. PATIENTS AND METHOD: This cross-sectional study was conducted in 2004-2005, and used a two-stage cluster sampling method to select a representative sample of the Great Tunis population. A total of 2712 individuals (1228 men and 1484 women), aged 35 to 69 years were included. Definition and classification of hypertension (HTN) was performed according to guidelines from the Joint National Committee on prevention, detection, evaluation and treatment of high blood pressure (JNC-7) report. RESULTS: The prevalence of preHTN and HTN was 56.8% and 25.0% in males, and 43.1% and 36.1% in females, respectively. Subjects with preHTN and those with HTN showed higher prevalence of diabetes, dyslipidemia, obesity and abdominal obesity than the normotensive (NT) group. The metabolic syndrome (MetS) was found in 8.0%, 17.8% and 53.8% of NT, preHT and HTN subjects, respectively. The risk of developing CHD within 10 years, as predicted by the Framingham-Anderson model, was above 15% for 3.9%, 31.1% and 65.0% among NT, preHTN and HTN subjects, respectively. In multivariate analysis, preHTN was associated with age (OR [95% CI], 1.02 [1.01-1.03]; P<0.01), male gender (2.51 [1.89-3.23]; P<0.001), obesity (2.36 [1.71-3.26]; P<0.01), abdominal obesity (1.53 [1.14-2.06]; P<0.01) and smoking (0.70 [0.53-0.92]; P<0.01). CONCLUSION: PreHTN is very common in Tunisians. It is associated with a higher prevalence of cardiometabolic risk factors and confers a higher risk for subsequent CHD. These findings support the recommendations of lifestyle modification for preHTN patients.

Plasma fatty acids profile and estimated elongase and desaturases activities in Tunisian patients with the metabolic syndrome.

This study aimed to determine plasma fatty acids pattern and to estimate desaturases activities in Tunisian subjects with metabolic syndrome (MetS). A total of 1975 adults were randomly selected from the Great Tunis region (Tunisia). MetS was defined according to the International Diabetes Federation criteria. Saturated and monounsaturated fatty acids levels and delta 9 desaturase activity were increased, but polyunsaturated fatty acids (PUFA) levels and delta 5 desaturase activity were decreased in patients with MetS. Using multivariate analysis, MetS was found inversely associated with PUFA; compared to first quartile, multi-adjusted odd ratios (95% confidence interval) of MetS were 0.80 (0.54-1.17), 0.47 (0.27-0.81) and 0.32 (0.15-0.68) for second, third and fourth quartiles of PUFA, respectively. Altered fatty acids pattern in MetS is likely related to both dietary and metabolic changes.

Metabolic syndrome is associated with gastroesophageal reflux disease based on a 24-hour ambulatory pH monitoring.

Several studies have focused on the relationship between metabolic syndrome and gastroesophageal reflux disease (GERD). They were based on GERD complications, whereas little is known about the association between metabolic syndrome and objectively measured esophageal acid exposure. The aim of our study was to assess the relationship between metabolic syndrome and GERD based on a 24-hour pH testing. It was a cross-sectional study including 100 consecutive patients who underwent a 24-hour pH-metry monitoring and were assessed for the five metabolic syndrome components as well as for body mass index (BMI). Among the 100 patients, 54 had a pathological acid GERD. The 46 GERD-free patients represented control group. Sex distribution was comparable between both groups but GERD patients were older than controls (44.59 vs. 37.63 years, P= 0.006) and more often obese or with overweight (83.3 vs. 60.9%, P= 0.01). Frequency of metabolic syndrome as a whole entity was higher among patients with GERD than those without GERD (50 vs. 19.56%; P= 0.002) with a crude odds ratio of 4.11 (95% confidence interval: 1.66-10.14). Multivariate regression analysis showed that metabolic syndrome as well as an age ≥ 30 years were independent factors associated to GERD but not BMI and sex. Abnormal waist circumference and fasting glucose level ≥ 100 mg/L were the only independent factors among the five components of metabolic syndrome. Metabolic syndrome but not BMI was an independent factor associated to GERD. These results confirm the hypothesis that central obesity is associated to GERD.

Metabolic syndrome in Tunisian psoriatic patients: prevalence and determinants.

BACKGROUND: A significant association between psoriasis and the metabolic syndrome (MetS) has been frequently reported. OBJECTIVE: The aim of this study was to specify the main factors that determine the MetS in psoriatic Tunisian patients. METHODS: A case-control study has included 164 psoriatic patients and 216 controls. RESULTS: The prevalence of MetS was higher in cases than in controls but without statistical differences [35.5% vs. 30.8%, odds ratio (OR): 1.39 CI: 0.88-2.18; P=0.095]. According to gender, the prevalence of MetS was significantly increased only in psoriatic women (47.4% vs. 30%, OR: 1.89, CI: 1.11-3.21; P=0.01). A multiple logistic regression, considering the effect of age, and gender, showed that the prevalence of MetS was significantly higher in cases than in controls (OR: 1.73, CI: 1.06-2.82; P=0.03). MetS components analysed seperately showed a significantly higher prevalence of decreased high-density lipoprotein cholesterol (HDLc) (60.9% vs. 35.9%, OR: 2.77, CI: 1.8-4.27, P<0.001) and for increased hypertension (50% vs. 40%, OR: 1.48, CI: 0.97-2.257, P=0.04) in psoriatic patients. According to gender, HDLc was significantly decreased in both genders (male: OR: 2.075, CI: 1.24-3.47, P=0.004; female: OR: 3.58, CI: 2.07-6.19, P<0.0001), while hypertension was increased only in psoriatic men (OR: 2.09, CI: 1.24-3.51, P=0.004) and abdominal obesity only in psoriatic women (OR: 2.31, CI: 1.30-4.11, P=0.002). CONCLUSION: Decreased HDLc is the main biological abnormality that characterized MetS in Tunisian psoriatic patients. Moreover, contrary to men, psoriatic women have shown a significantly higher prevalence of MetS, which is, in addition to decreased HDLc, mainly attributed to abdominal obesity.

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.

The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.

The G3057A LEPR polymorphism is associated with obesity in Tunisian women.

OBJECTIVES: The aim of this study was to evaluate the effect of the G3057A (rs62589000) LEPR polymorphism on obesity risk and plasma leptin, insulin, and lipid levels in a sample of the Tunisian population. DESIGN AND METHODS: Three hundred and ninety-three obese patients and 317 controls participated in this study. The G3057A genotype was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: In the entire study sample, no significant differences in genotype frequencies were observed between obese patients and controls. However, stratified analysis by gender revealed a quantitative increase in the variant allele (33.3% vs. 25.8%; χ(2)=4.90, p=0.026) in obese women (but not men) compared to controls. When a dominant model of inheritance was assumed, the GA+AA genotypes were more prevalent in these obese female patients than in controls (58.3% vs. 47.8%; χ(2)=4.08, p=0.044). Unconditional logistic regression showed that in women only, obesity risk was significantly higher for homozygotes for the variant allele (OR=2.73, 95% CI 1.03-7.21) and for carriers of GA+AA genotypes (OR=1.53, 95% CI 1.01-2.31) compared with homozygotes for the normal allele. The association between the G3057A LEPR variant and obesity remained statistically significant even after adjustment for age. No relationship was found between the G3057A LEPR polymorphism and leptin and insulin levels. Additionally, this LEPR gene variant had no effect on plasma lipid concentrations. CONCLUSION: There is evidence in this study that the G3057A LEPR polymorphism is associated with obesity in Tunisian women.

Polyunsaturated fatty acids deficits are associated with psychotic state and negative symptoms in patients with schizophrenia.

The study was aimed to examine membrane polyunsaturated fatty acids (PUFAs) profile in patients with schizophrenia (SZ) before and after antipsychotic medication and test their association with psychopathology. Erythrocyte membrane fatty acids were analysed by gas chromatography in 36 drug-free patients with SZ and 36 controls. Psychometric evaluation and blood sampling were achieved at baseline and after 3 months of antipsychotic treatment. At enrolment, levels of total PUFAs and arachidonic (AA) and docosahexaenoic (DHA) acids were significantly lower, but ω6/ω3 PUFAs ratio was higher in patients. AA and DHA were negatively related to the Andreason's scale for assessment of negative symptoms (SANS) score. DHA was inversely related to "alogia", "anhedonia", "avolition", and "blunted affect" subitems of SANS. After 3 months under typical antipsychotic drugs, fatty acid profile turned into comparable to controls in parallel with psychopathology improvement. Data indicate that PUFAs deficits are associated with psychotic state and negative symptoms of SZ.

Lack of association between monocyte protein-1 (MCP-1) -2518 A>G chemoattractant and C-C chemokine receptor 2 (CCR2) Val64Ile polymorphisms and multiple sclerosis in a Tunisian population.

Chemokines and their receptors are known to mediate inflammation and tissue damage in autoimmune disorders such as multiple sclerosis (MS). Multiple sclerosis is an inflammatory disease of the central nervous system, characterized by myelin damage and neurological complications. Monocyte chemoattractant protein-1 (MCP-1) interacts with the C-C chemokine receptor 2 (CCR2) and plays a role in the migration of leukocytes into the central nervous system, thus contributing to the T cell-mediated pathogenesis of MS. Genomic DNA obtained from 58 MS patients and 72 healthy controls was tested for the MCP-1 -2518 A>G and CCR2 Val64Ile polymorphisms using polymerase chain reaction-restriction fragment length polymorphism analysis. Neither the MCP-1 -2518G (p=0.43) nor the CCR2 64Ile (p=0.52) variant contributed to the risk of MS in Tunisians.

The metabolic syndrome: prevalence, main characteristics and association with socio-economic status in adults living in Great Tunis.

AIMS: This study aimed to determine the prevalence of the metabolic syndrome (MetS) and its association with socio-economic status in the population of Great Tunis. METHODS: The study included 2712 subjects (1228 men and 1484 women), aged 35-70 years and living in the Great Tunis region, all of whom were recruited between March 2004 and June 2005. The sample was weighted by using the inverse of the response rate according to governorate, district and gender. The MetS was defined according to the National Cholesterol Education Program-Adult Treatment Panel III. RESULTS: In the studied population, the overall prevalence of the MetS was 31.2%, and it was significantly more frequently seen in women than in men (37.3% vs 23.9%, respectively; P<0.001), as were abdominal obesity (69% vs 21.6%, respectively; P<0.001), high blood pressure (50.3% vs 43.1%, respectively; P<0.001) and low HDL cholesterol (40.6% vs 33.6%, respectively; P<0.001), the most common characteristics of the MetS. Also, the prevalence of the MetS increased with age in both genders, but more so in women. In those aged greater than 55 years, the prevalence of MetS was 56.7% in women and 30.7% in men. An inverse relationship was observed between level of education and prevalence of the MetS in women, with the highest prevalence being in illiterate women and the lowest in those who were university graduates. CONCLUSION: The prevalence of the MetS is markedly high within the population of Great Tunis and especially in women. As these findings predict future increases in cardiovascular disease in these populations, substantial efforts need to be made to fight against obesity and sedentary lifestyles to ameliorate the expected poor health outcomes.

Ketosis-onset diabetes in Tunisian adults: immunological markers and beta-cell function.

The aim of this study in Tunisia was to classify ketosis-onset diabetes in adult patients. All patients aged > 30 years without known diabetes, presenting with ketosis and admitted to our department were studied. Patients with secondary or gestational diabetes and those on corticoid therapy or with coinciding infection were excluded. The data included clinical characteristics, immunological markers and beta-cell function. Of the 63 patients, islet-cell antibodies were present in 27.0%, glutamic acid decarboxylase antibodies in 25.4% and thyrosin phosphatase antibodies in 19.0%. Beta-cell functional reserve was preserved in 54.0%. Our results confirm that patients with ketosis-onset diabetes mellitus in adulthood are a heterogeneous group.

Ketosis-onset diabetes in Tunisian adults: immunological markers and beta-cell function

The aim of this study in Tunisia was to classify ketosis-onset diabetes in adult patients. All patients aged >/= 30 years without known diabetes, presenting with ketosis and admitted to our department were studied. Patients with secondary or gestational diabetes and those on corticoid therapy or with coinciding infection were excluded. The data included clinical characteristics, immunological markers and beta-cell function. Of the 63 patients, islet-cell antibodies were present in 27.0%, glutamic acid decarboxylase antibodies in 25.4% and thyrosin phosphatase antibodies in 19.0%. beta-cell functional reserve was preserved in 54.0%. Our results confirm that patients with ketosis-onset diabetes mellitus in adulthood are a heterogeneous group

[Prevalence of conventional cardiovascular risk factors in the Great Tunis population]. / Prévalence des facteurs de risque cardiovasculaires conventionnels dans la population du Grand Tunis.

BACKGROUND: This study was designed to determine the prevalence of main cardiovascular risk factors in the population of Great Tunis. SUBJECTS AND METHODS: This cross-sectional study included 2483 individuals aged 35 to 70 years dwelling in the Great Tunis region, recruited between March 2004 and June 2005. The sample was weighted using the inverse of response rate according to governorate, district and sex. RESULTS: Obesity and abdominal obesity were observed respectively in 34 and 48% of subjects. The prevalence of these two factors was particularly elevated in females (46 and 69% respectively). Hypertension was common (31%), especially in women (36%). Diabetes mellitus and dyslipemia were found in 15 and 21% of subjects, respectively, without difference according to sex. More than half of men and 8% of women were current smokers. CONCLUSION: The prevalence of conventional cardiovascular risk factors is dramatically high in the population of Great Tunis. These findings predict a future expansion of cardiovascular diseases in this population. Profound changes of lifestyle and dietary habits of Tunisians are needed to reduce the risk of cardiovascular morbidity and mortality.