Anderson, United States
Anderson, United States

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Tabebi M.,University of Sfax | Charfi N.,Service of endocrinology | Kallabi F.,University of Sfax | Alila-Fersi O.,University of Sfax | And 7 more authors.
Journal of Diabetes and its Complications | Year: 2016

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations.Our study reported a Tunisian family with clinical features of maternally inherited diabetes and deafness (MIDD). Accordingly, we performed a whole mitochondrial genome mutational analysis, results revealed a haplotype composed by "A750G, A1438G, G8860A, T12705, T14766C and T16519C", in homoplasmic state, in the mother and transmitted to her daughter and her son. The patient with MIDD2 and retinopathy presented, in addition to this haplotype associated to the MIDD, two . de novo variations including a novel one m.8241. T. > G (p. F219C) in . MT-CO2 gene and a known one m.13276G. > A (p. M314. V) in . MT-ND5 gene. The coexistence of these two mutations could explain the retinopathy observed in this patient. © 2016 Elsevier Inc.


PubMed | Service of endocrinology, University of Sfax and University College of Applied Sciences
Type: | Journal: Journal of diabetes and its complications | Year: 2016

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Our study reported a Tunisian family with clinical features of maternally inherited diabetes and deafness (MIDD). Accordingly, we performed a whole mitochondrial genome mutational analysis, results revealed a haplotype composed by A750G, A1438G, G8860A, T12705, T14766C and T16519C, in homoplasmic state, in the mother and transmitted to her daughter and her son. The patient with MIDD2 and retinopathy presented, in addition to this haplotype associated to the MIDD, two de novo variations including a novel one m.8241T>G (p. F219C) in MT-CO2 gene and a known one m.13276G>A (p. M314V) in MT-ND5 gene. The coexistence of these two mutations could explain the retinopathy observed in this patient.


PubMed | Service of Endocrinology and Cardio Thoracic Center
Type: | Journal: Vascular health and risk management | Year: 2016

The burden of cardiovascular diseases (CVD) is increasing in most countries of sub-Saharan Africa. However, as there is a scarcity of data, little is known about CVD in Angola. This study aimed to determine the prevalence of prehypertension, hypertension, prediabetes, diabetes, overweight, and obesity among workers at a private tertiary center in Angola.A cross-sectional study was conducted among 781 workers of Clnica Girassol, a tertiary health care center in Angola, during the month of November 2013. Demographic, anthropometric, and clinical variables were analyzed.Of the 781 participants studied, 50.44% were males and 78.11% were under 40 years old. The prevalence of hypertension and prehypertension was 17.93% (95% confidence interval [CI]: 15.24%-20.74%) and 54.03% (95% CI: 50.58%-57.62%), respectively. Among hypertensive subjects, 83.57% (117) were unaware of the diagnosis. Hypertension was associated with age (40 years) (odds ratio [OR]: 6.21; 95% CI: 4.18-9.24; There was a high prevalence of cardiovascular risk factors in apparently healthy workers at the private tertiary center in Angola.


Mannic T.,Service of Endocrinology | Mouffok M.,Service of Endocrinology | Python M.,Service of Endocrinology | Yoshida T.,Service of Endocrinology | And 6 more authors.
Endocrinology | Year: 2013

Corticosteroids have been involved in the genesis of ventricular arrhythmias associated with pathological heart hypertrophy, although molecular mechanisms responsible for these effects have not been completely explained. Because mineralocorticoid receptor (MR) antagonists have been demonstrated to be beneficial on the cardiac function, much attention has been given to the action of aldosterone on the heart. However, we have previously shown that both aldosterone and corticosterone in vitro induce a marked acceleration of the spontaneous contractions, as well as a significant cell hypertrophy in isolated neonate rat ventricular cardiomyocytes. Moreover, a beneficial role of the steroid hormone dehydroepiandrosterone (DHEA) has been also proposed, but themechanismof its putative cardioprotective function is notknown.Wefound thatDHEAreduces both the chronotropic and the hypertrophic responses of cardiomyocytes upon stimulation of MR and glucocorticoid receptor (GR) in vitro. DHEA inhibitory effects were accompanied by a decrease of T-type calcium channel expression and activity, as assessed by quantitative PCR and the patchclamp technique. Prevention of cell hypertrophy by DHEA was also revealed by measuring the expression of A-type natriuretic peptide and BNP. The kinetics of the negative chronotropic effect of DHEA, and its sensitivity to actinomycin D, pointed out the presence of both genomic and nongenomic mechanisms of action. Although the genomic action of DHEA was effective mostly upon MR activation, its rapid, nongenomic response appeared related to DHEA antioxidant properties. On the whole, these results suggest new mechanisms for a putative cardioprotective role of DHEA in corticosteroid-associated heart diseases. Copyright © 2013 by The Endocrine Society.


Castillo J.J.,Dana-Farber Cancer Institute | Ingham R.R.,Rhode Island Hospital | Reagan J.L.,Rhode Island Hospital | Furman M.,Rhode Island Hospital | And 2 more authors.
Clinical Lymphoma, Myeloma and Leukemia | Year: 2014

Background The relation between body mass index (BMI) and incidence of diffuse large B-cell lymphoma (DLBCL) has been suggested, but no systematic review has been undertaken. Material and Methods We performed a literature search through December 2012. Meta-analyses were performed to quantify the relative risk (RR) of DLBCL incidence in overweight and obese persons compared with normal weight individuals using the random-effects model. Subset analyses were performed according to study design, sex, and geographic region. Overweight was defined as a BMI 25 to 29.9 kg/m2, and obesity was defined as a BMI of 30 kg/m2. Meta-regression, using an unrestricted maximum likelihood model, was performed to evaluate the linear association between BMI and odds of DLBCL. Results Our study included 6 case-control and 10 cohort studies. The RR of DLBCL in overweight individuals was 1.14 (95% confidence interval [CI], 1.04-1.24; P =.004), and in obese individuals, RR was 1.29 (95% CI, 1.16-1.43; P <.001). The RR of DLBCL in overweight men and women was 1.22 and 1.27, respectively. In overweight individuals, both prospective and case-control studies showed an RR of 1.13. The RR of DLBCL in obese men and women was 1.40 and 1.34, respectively. In obese individuals, the RR in prospective studies was 1.25 and in case-control studies it was 1.33. Meta-regression analysis showed a 14% increase in DLBCL incidence for each 10 kg/m2 increase in BMI. Conclusion An increased BMI is associated with higher RR of DLBCL regardless of sex. Also, there seems to be a linear association between BMI and DLBCL incidence. © 2014 Elsevier Inc.


PubMed | Service of Endocrinology, H. Lee Moffitt Cancer Center and Research Institute, Rhode Island Hospital and Dana-Farber Cancer Institute
Type: Journal Article | Journal: Clinical lymphoma, myeloma & leukemia | Year: 2014

The relation between body mass index (BMI) and incidence of diffuse large B-cell lymphoma (DLBCL) has been suggested, but no systematic review has been undertaken.We performed a literature search through December 2012. Meta-analyses were performed to quantify the relative risk (RR) of DLBCL incidence in overweight and obese persons compared with normal weight individuals using the random-effects model. Subset analyses were performed according to study design, sex, and geographic region. Overweight was defined as a BMI 25 to 29.9 kg/m(2), and obesity was defined as a BMI of 30 kg/m(2). Meta-regression, using an unrestricted maximum likelihood model, was performed to evaluate the linear association between BMI and odds of DLBCL.Our study included 6 case-control and 10 cohort studies. The RR of DLBCL in overweight individuals was 1.14 (95% confidence interval [CI], 1.04-1.24; P = .004), and in obese individuals, RR was 1.29 (95% CI, 1.16-1.43; P < .001). The RR of DLBCL in overweight men and women was 1.22 and 1.27, respectively. In overweight individuals, both prospective and case-control studies showed an RR of 1.13. The RR of DLBCL in obese men and women was 1.40 and 1.34, respectively. In obese individuals, the RR in prospective studies was 1.25 and in case-control studies it was 1.33. Meta-regression analysis showed a 14% increase in DLBCL incidence for each 10 kg/m(2) increase in BMI.An increased BMI is associated with higher RR of DLBCL regardless of sex. Also, there seems to be a linear association between BMI and DLBCL incidence.


Morin E.,Notre Dame Hospital | Berthelet F.,Notre Dame Hospital | Weisnagel J.,Service of Endocrinology | Bidlingmaier M.,Ludwig Maximilians University of Munich | Serri O.,Notre Dame Hospital
Pituitary | Year: 2012

It has been suggested that treatment with adequate dose titration of pegvisomant, a GH antagonist, up to a maximum of 40 mg daily, can achieve IGF-1 normalisation in virtually all patients with acromegaly. On the other hand, temozolomide (TMZ), an alkylating cytostatic agent, has been reported to reduce pituitary tumour size and hormone hypersecretion in a small number of aggressive pituitary macroadenomas. In this paper we report the case of a patient resistant to very high doses of pegvisomant used in combination with somatostatin analogs (SSA) and to TMZ therapy. The patient, initially a 22 year-old man with an invasive GH-secreting pituitary macroadenoma (IGF-1, 371% upper limit of normal), had active acromegaly despite a repeat transsphenoidal surgery followed by radiotherapy and SSA (octreotide 800 μg sc daily) (IGF-1, 262% ULN). In combination with SSA, pegvisomant was started at 20 mg daily and doses were titrated up to 60 mg daily. IGF-1 was moderately reduced and stabilized at 200% ULN after 1 year of treatment. Serum pegvisomant level was 30,500 ng/l, the denaturalized GHBP concentration 1,120 pM and the endogenous GH level was 220 μg/l. Pegvisomant was stopped and TMZ therapy was given for 5 cycles. However, the patient reported an increase of acromegaly symptoms and the serum IGF-1 was raised to the same level prior to pegvisomant therapy. Consequently, pegvisomant was tried again with doses up to 100 mg daily finally resulting in normalisation of serum IGF-1 level and improvement of acromegaly symptoms and patient well-being. We conclude that in some patients with severe acromegaly refractory to multimodal therapy, biochemical control may be difficult to attain with conventional doses of pegvisomant or TMZ therapy. © 2010 Springer Science+Business Media, LLC.


Bortolotti M.,University of Lausanne | Maiolo E.,University of Lausanne | Corazza M.,University of Lausanne | Van Dijke E.,University of Lausanne | And 10 more authors.
Clinical Nutrition | Year: 2011

Background & aims: High protein diets have been shown to improve hepatic steatosis in rodent models and in high-fat fed humans. We therefore evaluated the effects of a protein supplementation on intrahepatocellular lipids (IHCL), and fasting plasma triglycerides in obese non diabetic women. Methods: Eleven obese women received a 60 g/day whey protein supplement (WPS) for 4-weeks, while otherwise nourished on a spontaneous diet, IHCL concentrations, visceral body fat, total liver volume (MR), fasting total-triglyceride and cholesterol concentrations, glucose tolerance (standard 75 g OGTT), insulin sensitivity (HOMA IS index), creatinine clearance, blood pressure and body composition (bio-impedance analysis) were assessed before and after 4-week WPS. Results: IHCL were positively correlated with visceral fat and total liver volume at inclusion. WPS decreased significantly IHCL by 20.8 ± 7.7%, fasting total TG by 15 ± 6.9%, and total cholesterol by 7.3 ± 2.7%. WPS slightly increased fat free mass from 54.8 ± 2.2 kg to 56.7 ± 2.5 kg, p = 0.005). Visceral fat, total liver volume, glucose tolerance, creatinine clearance and insulin sensitivity were not changed. Conclusions: WPS improves hepatic steatosis and plasma lipid profiles in obese non diabetic patients, without adverse effects on glucose tolerance or creatinine clearance. Trial Number: NCT00870077, ClinicalTrials.gov. © 2011 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.


Giusti V.,Cardio Metabolic Center | Theytaz F.,University of Lausanne | Di Vetta V.,Service of Endocrinology | Clarisse M.,Service of Endocrinology | And 3 more authors.
American Journal of Clinical Nutrition | Year: 2016

Background: The effect of a Roux-en-Y gastric bypass (RYGB) on body weight has been amply documented, but few studies have simultaneously assessed the evolution of energy and macronutrient intakes, energy expenditure, and changes in body composition over time after an RYGB. Objective: We evaluated energy and macronutrient intakes, body composition, and the basal metabolic rate (BMR) in obese female patients during the initial 3 y after an RYGB. Methods: Sixteen women with a mean 6 SEM body mass index (in kg/m2) of 44.1 ± 1.6 were included in this prospective observational study. The women were studied on 6 different occasions as follows: before and 1, 3, 6, 12 (n = 16), and 36 (n = 8) mo after surgery. On each occasion, food intake was evaluated from 4-or 7-d dietary records, body composition was assessed with the use of bioimpedancemetry, and energy expenditure was measured with the use of indirect calorimetry. Results: Body weight evolution showed the typical pattern reported after an RYGB. Total energy intake was 2072 6 108 kcal/d at baseline and decreased to 681 ± 58 kcal/d at 1 mo after surgery (P < 0.05 compared with at baseline). Total energy intake progressively increased to reach 1240 ± 87 kcal/d at 12 mo after surgery (P < 0.05 compared with at 1 mo after surgery) and 1448 ± 57 kcal/d at 36 mo after surgery (P < 0.05 compared with at 12 mo after surgery). Protein intake was 87 ± 4 g/d at baseline and 6 2 g/d 1 mo after surgery (P < 0.05 compared with at baseline) and increased progressively thereafter to reach 57 ± 3 g/d at 36 mo after surgery (P < 0.05 compared with at 1 mo after surgery). Carbohydrate and fat intakes over time showed similar patterns. Protein intake from meat and cheese were significantly reduced early at 1 mo after surgery but increased thereafter (P < 0.05). The BMR decreased from 1.12 ± 0.04 kcal/min at baseline to 0.93 ± 0.03, 0.86 ± 0.03, and 0.85 ± 0.04 kcal/min at 3, 12, and 36 mo after surgery, respectively (all P < 0.05 compared with at baseline). Conclusions: Total energy, carbohydrate, fat, and protein intakes decreased markedly during the initial 1-3 mo after an RYGB, whereas the BMR moderately decreased. The reduction in protein intake was particularly severe at 1 mo after surgery, and protein intake increased gradually after 3-6 mo after surgery. © 2016 American Society for Nutrition.

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