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Bouzid K.,Laboratoire Of Biochimie Clinique | Odievre M.-H.,Service de pediatrie | Couque N.,UF de genetique moleculaire et biochimie | Elion J.,UF de genetique moleculaire et biochimie | Ducrocq R.,UF de genetique moleculaire et biochimie
Immuno-Analyse et Biologie Specialisee | Year: 2011

Sickle cell syndromes are generally the consequence of the homozygous sickle mutation or associated in trans with another haemoglobin variant or beta-thalassaemia. We present two cases of atypical sickle cell syndrome identified among sickle cell disease children diagnosed at the Pediatric Hospital Robert-Debré, Paris, and Louis-Mourier Hospital, Colombes, France. The first case is a 9-year-old girl who is a compound heterozygote S/C-Ndjamena. She carries the β S mutation (HBB :c.20A>T[p.Glu6Val]) on one allele and the β S mutation together with a β 37 (HBB :c.112T>G[p.Trp37Gly]) mutation in cis on the other allele. This second mutation is responsible of an increased affinity of haemoglobin for oxygen explaining the reduced symptomatology of this child who is homozygous for the β S mutation. The second case is S/β +-thalassaemia with high expression of HbA and without clinical symptomatology. The child was carrier for the -101C>T mutation (HBB :c.-151C>T) located in the most distal CACCC box of the β-globin gene promotor, mutation known to be responsible of silent β-thalassemia in heterozygotes. The phenotype is similar to that of an A/S subject. Familial phenotypical and genotypical studies are essential in similar cases to make a correct diagnosis that explains the patients' symptomatology of and also to detect rare haemoglobin variants, which associated to sickle cell anaemia. © 2011 Elsevier Masson SAS. Source


Slama F.B.,Institute National Of La Sante Publique | Ben Amor A.,Laboratoire Of Biochimie Et Of Techno Biologie | Tinsa F.,Service de medecine infantile B | Ben Rayana C.,Institute National Of Nutrition | And 4 more authors.
Nutrition Clinique et Metabolisme | Year: 2012

Background: Obesity in children is a public health problem around the world. Its pathogenesis is not yet elucidated. The fatty tissue, a long time considered as a structure of storage, is now recognized as an endocrine structure, secreting adipokines which would participate in the genesis of obesity. The correlation between the leptin and obesity is largely known. On the other hand, the role of the resistin and its implication in the comorbidities of obesity, inter alia the insulinoresistance, remain a controversial subject. Objectives: The main objective of our study is to compare the serum concentrations of glucose, lipidic parameters, resistin, leptin and insulin between two samples of obese and non-obese children, and to search correlations between resistin on the one hand and leptin, insulin, BMI, age and sex on the other hand. Results: We note that 92 obese children and 72 non-obese children aged between 6 to 10 years old were included in the study. Serum levels of leptin, insulin and resistin were significantly higher in the obese sample. Among obese children, resistin was correlated significantly with BMI (r= 0.798; P< 0.001), leptin (r= 0.635; P< 0.001) and insulin (r= 0.760; P< 0.001). Among non-obese, resistin was significantly correlated with BMI (r= 0.686; P< 0.001), leptin (r= 0.329; P< 0.001) and insulin (r= 0.844; P< 0.01). We did not find any significant correlation between either resistin and age or lipidic parameters neither in the first group nor in the second. In multivariate analysis, resistin did not appear to be related directly with obesity, only leptin was related with this status. Conclusion: Our results prove that resistin is correlated with BMI. However, it is not related directly to obesity. Its action seems to be modulated and controlled by leptin. © 2012 Elsevier Masson SAS. Source


Bouzid K.,Laboratoire Of Biochimie Clinique | Ben Mami Ben Miled F.,Institute National Of Nutrition | Hassine M.,Institute National Of Nutrition | Kalai E.,Laboratoire Of Biochimie Clinique | And 5 more authors.
Annales de Cardiologie et d'Angeiologie | Year: 2012

Objective: To study the frequency of silent myocardial ischemia (SMI) in Tunisian patients with recent type 2 diabetes and identify cardiovascular risk factors directly in relation with SMI. Patients and methods: One hundred and twenty diabetics and sixty healthy people have benefited from blood sampling, electrocardiogram and exercise test. Results: The frequency of SMI was 21% in diabetics and 3% in healthy people (P=0.01). Obesity and hypertension were higher in diabetics than in healthy people (P=0.001 and P<10-4). Using unvaried analysis for risk factors with the presence of SMI in diabetics, we found that age greater than 60yrs, male sex, sedentary and smoking were significantly correlated with SMI; respectively P=0.004, 0.01, 0.009 and 0.03. The SMI was found in 37% of diabetics with high blood pressure vs 8% in diabetics with normal blood pressure and was correlated with hypertriglyceridemia, hypoHDLemia and microalbuminuria. Patients with SMI had at least two cardiovascular risk factors apart from diabetes among those: age greater or equal to 60yrs, male sex, smoking, hypertension, dyslipidemia and family history of early coronaropathy. Chronic inflammation and hyperhomocysteinemia were significantly correlated to SMI; OR=4.2 and 3.8. In addition, SMI was found in one diabetic over three who had bad glycemic control. Using multivariate analysis, only age greater or equal to 60yrs, smoking, hypertension, hyperhomocysteinemia and hypertriglyceridemia were risk factors directly in relation with SMI in type 2 diabetes. Conclusion: The assessment of global cardiovascular risk from the moment of discovering type 2 diabetes and the early screening of SMI should be necessary. © 2011 Elsevier Masson SAS. Source


Lasram M.M.,Tunis el Manar University | Bouzid K.,Laboratoire Of Biochimie Clinique | Douib I.B.,Tunis el Manar University | Annabi A.,Tunis el Manar University | And 4 more authors.
Drug and Chemical Toxicology | Year: 2015

Several studies showed that organophosphorus pesticides disturb glucose homeostasis and can increase incidence of metabolic disorders and diabetes via insulin resistance. The current study investigates the influence of malathion on glucose metabolism regulation, in vivo, during subchronic exposure. Malathion was administered orally (200mg/kg), once a day for 28 consecutive days. Plasma glucose, insulin and Glycated hemoglobin levels were significantly increased while hepatic glycogen content was decreased in intoxicated animals compared with the control group. Furthermore, there was a significant disturbance of lipid content in subchronic treated and post-treated rats deprived of malathion for one month. In addition, we used the homeostasis model assessment (HOMA) to assess insulin resistance (HOMA-IR) and pancreatic β-cell function (HOMA-β). Our results show that malathion increases insulin resistance biomarkers and decreases insulin sensitivity indices. Statistical analysis demonstrates that there was a positive and strong significant correlation between insulin level and insulin resistance indices, HOMA-IR, HOMA-β. Similarly, a negative and significant correlation was also found between insulin level and insulin sensitivity indices. For the first time, we demonstrate that malathion induces insulin resistance in vivo using homeostasis model assessment and these changes were detectable one month after the end of exposure. To explain insulin resistance induced by malathion we focus on lipid metabolism disturbances and their interaction with many proteins involved in insulin signaling pathways. © 2014 Informa Healthcare USA, Inc. Source


Gorsane I.,Service de nephrologie et de medecine A M8 | Gorsane I.,Laboratoire Of Recherche Dimmunologie Of Transplantation Renale Et Dimmunopathologie | Zammouri A.,Service de nephrologie et de medecine A M8 | El Meddeb J.,Service de nephrologie et de medecine A M8 | And 6 more authors.
Nephrologie et Therapeutique | Year: 2016

Purpose. - Brown tumors are rare and severe manifestations of secondary hyperparathyroidism. We propose in this study: to define and illustrate brown tumors observed in our hemodialysis center; to show the frequency for 20 years in our center; to identify risk factors compared to the rest of dialysis patients; and finally to offer improved support for reducing the incidence. Patients and methods. - We conducted a retrospective and descriptive study, over a period of 20 years (1993-2013), including 311 cumulative patients which are chronic hemodialysis in our unit. Results. - Twenty-one patients had brown tumors (6.75%). The average age was 36.1 years and the sex ratio M/F is of 0.6. The average time between the start of hemodialysis and the diagnosis of brown tumor was 87.6 months. Clinical symptoms were dominated by bone pain, found in 76.1% of cases. The most frequent locations were costal (28.5% of cases), while spinal involvement was less frequent (4.76% of cases). The location was multifocal in 57.1% of cases. The mean serum calcium was of 2.08 mmol/L, the serum phosphate of 2.25 mmol/L, alkaline phosphatase of 1709 IU/L and the average value of parathyroid hormone of 1934 pg/mL. Radiography was the key of diagnostic. Resonance magnetic imaging and computed tomography had an interest in the exploration of spinal locations and maxillo-mandibular locations. All patients underwent parathyroidectomy and it was total in one patient. Tumorectomy was necessary in three patients (14.2% of cases). The outcome was favorable in 85.7% of cases. Conclusion. - Our work relates one of the most important series published of brown tumors and is characterized by the multifocal character of these tumors. © 2015 Association Sociétéde néphrologie. Source

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