Plombières-lès-Dijon, France
Plombières-lès-Dijon, France

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PubMed | Hopitaux Universitaires Est Parisien, French Institute of Health and Medical Research, Institute Pasteur Paris, Service Genetique Medicale and Service Endocrinologie
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2015

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located 600kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8kb duplication located 600kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9kb element located 600kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region.


PubMed | Service endocrinologie and Organisation non gouvernementale Sante Diabete
Type: | Journal: Soins; la revue de reference infirmiere | Year: 2014

Mali has a high proportion of people with diabetes, a situation which has significantly worsened since war broke out at the beginning of 2013. A nongovernmental organisation, Sant Diabte, is carrying out wide-scale action in order to improve access to care and the follow-up of people with diabetes in Mali.


PubMed | Service endocrinologie and Service de readaptation cardiaque
Type: Journal Article | Journal: Archives of cardiovascular diseases | Year: 2014

Although diabetes is associated with a high cardiovascular risk, very little information is available about diabetic patients enrolled in cardiac rehabilitation (CR).To analyse the characteristics of diabetic patients and diabetes care in CR.From the database of 700 patients enrolled in CR during a 29-month period, we analysed data from all patients with glucose metabolism disorders (n=105) and 210 matched normoglycaemic patients.A total of 105 patients with glucose metabolism disorders (type 1 diabetes, n=5; type 2 diabetes, n=84; impaired fasting glucose, n=16) were enrolled in a CR programme (15% of whole population). Fifteen per cent of patients with type 2 diabetes and all patients with impaired fasting glucose were diagnosed during CR. These 105 patients were older and had a higher body mass index, a larger waist circumference, higher fasting blood glucose and triglyceride concentrations and lower low-density lipoprotein cholesterol concentrations than non-diabetic patients; they also had higher rates of hypertension (P=0.001) and dyslipidaemia (P=0.02). They were more frequently referred to CR for peripheral artery disease (P=0.001), coronary heart disease+peripheral artery disease (P=0.007) and primary prevention (P=0.009). The intervention of a diabetologist was needed for 42.6% of patients because of uncontrolled or newly diagnosed diabetes.In the present study, we showed that (1) the proportion of patients with diabetes in CR is lower than expected, (2) many glucose metabolism disorders are diagnosed during CR, (3) patients with glucose metabolism disorders show a more severe cardiovascular risk profile than normoglycemic patients, and (4) the intervention of a diabetologist is needed during CR for many patients with diabetes.


Verges B.,Service Endocrinologie
Expert Opinion on Pharmacotherapy | Year: 2011

Introduction: A significant drop in cardiovascular risk has been seen in patients with type 2 diabetes treated with statins. However, this cardiovascular risk remains high, compared with nondiabetic individuals. This is partly due to the typical abnormalities of diabetic dyslipidemia - hypertriglyceridemia and decreased high-density lipoprotein cholesterol (HDL-C) - that are uncontrolled by statins. For this reason, combination lipid therapy may be considered in patients with type 2 diabetes. Areas covered: This review presents the main reasons for a combination lipid therapy in type 2 diabetes and the effects of several drugs, including fibrates, pioglitazone, niacin and omega 3, on diabetic dyslipidemia and the prevention of cardiovascular events. The real cardiovascular benefit of fibrates in patients with type 2 diabetes is not totally clear, but they may produce a significant benefit in patients with type 2 diabetes and diabetic dyslipidemia (hypertriglyceridemia, low HDL-C). Pioglitazone, which reduces triglycerides and increases HDL-C, has been shown to reduce the risk for major cardiovascular events in type 2 diabetes. Niacin and omega 3 fatty acids have a positive effect on diabetic dyslipidemia, but warrants clinical trials to demonstrate a clear cardiovascular benefit in type 2 diabetes. Expert opinion: Although combination lipid therapy seems to be useful to control diabetic dyslipidemia, the efficacy of such combined therapies on significantly reducing cardiovascular risk has still to be confirmed by additional clinical trials. © 2011 Informa UK, Ltd.


Verges B.,Service Endocrinologie | Verges B.,French Institute of Health and Medical Research
Medecine des Maladies Metaboliques | Year: 2013

Several lipid abnormalities, potentially atherogenic are observed in type 1 diabetes (T1D). Quantitative abnormalities of lipoproteins are observed in diabetic patients with poor glycemic control (increased plasma triglyceride and LDL-cholesterol levels) or nephropathy (increased triglycerides and LDL-cholesterol, low HDLcholesterol). Several qualitative abnormalities of lipoproteins, potentially harmful, are observed in patients with T1D, even in those with good metabolic control. These abnormalities include a cholesterol/triglyceride ratio increased within VLDLs, and decreased within LDLs and HDLs, glycation of apolipoproteins, augmented oxidation of LDLs and increase in small dense LDL particles. These qualitative changes of lipoproteins are likely to impair their metabolism and function. Thus, in patients with T1D, VLDLs and LDLs are more easily taken up by macrophages and HDLs show reduced antioxidative and vasorelaxant properties. These qualitative abnormalities are not fully explained by hyperglycemia and may partly be due to peripheral hyperinsulinemia associated with the subcutaneous route of insulin administration. The exact consequences on these qualitative lipid changes on development of cardiovascular disease, in patients with T1D diabetes, are still unknown. © 2013 Elsevier Masson SAS. - Tous droits réservés.


Cortet-Rudelli C.,Service Endocrinologie
Correspondances en MHND | Year: 2012

Sleep apnea syndrome (SAS) is one of the most common complications of acromegaly. It probably aggravates HTA, insulin resistance and abnormalities of the glucose metabolism which are common in patients with acromegaly. It decreases quality of life and has consequences on cardio-and cerebrovascular morbidity. Polysomnography or polygraphy are mandatory to diagnose SAS in every patient with acromegaly. Medical and/or surgical treatment of acromegaly (somatostatin analogs, GH antagonists) improves SAS. When SAS is severe, continuous positive airway pressure is mandatory. Sometimes, it can be stopped after the treatment of acromegaly even ifGH and/or IGF I are not perfectly normalized.


A significant decline of cardiovascular risk has been obtained in patients with type 2 diabetes with statins. However, this cardiovascular risk remains high as compared to non diabetic individuals. This "cardiovascular residual risk", in type 2 diabetes, is partly due to the typical abnormalities of diabetic dyslipidemia (hypertriglyceridemia, decreased HDL-cholesterol, small dense LDL particles) which are uncontrolled by statins and to atherogenic disorders associated with diabetes (chronic hyperglycemia, inflammation, oxidative stress). Reduction of this "cardiovascular residual risk" needs combined treatments to statins in order to correct the lipid abnormalities typical of diabetic dyslipidemia. However, the efficacy of such combined therapies to reduce significantly cardiovascular risk has still to be confirmed. © 2010 - Elsevier Masson SAS.


Verges B.,Service Endocrinologie
Clinical Lipidology | Year: 2010

Lipoprotein kinetic abnormalities in patients with Type 2 diabetes, are the basis of diabetic dyslipidemia, which is likely to play an important role in the development of atherogenesis. In Type 2 diabetes, all lipoproteins (VLDL, IDL, LDL and HDL) demonstrate significant kinetic abnormalities. Hypertriglyceridemia is due mainly to increased production of VLDL (mostly large VLDL1 particles, potentially atherogenic) and, to a lesser extent, to reduced catabolism of VLDL and IDL. Low HDL-C is the result of increased catabolism of HDL. Although plasma LDL-C level is usually normal in patients with Type 2 diabetes, LDL turnover is significantly reduced and, as a consequence, LDL plasma residence time is increased, which is potentially harmful. The pathophysiology of lipid kinetic abnormalities in Type 2 diabetes has not yet been completely explained. However, insulin resistance and the 'relative insulin deficiency observed in patients with Type 2 diabetes, are likely to play a key role in lipid kinetic abnormalities since insulin has an important function in the regulation of lipid metabolism. In addition, adiponectin, which is present in low levels in patients with insulin resistance and Type 2 diabetes, could also be directly involved in some lipoprotein kinetic abnormalities. © 2010 Future Medicine Ltd.


Verges B.,Service Endocrinologie | Verges B.,French Institute of Health and Medical Research
Diabetologia | Year: 2015

Cardiovascular disease is a major cause of morbidity and mortality in patients with type 2 diabetes mellitus, with a two- to fourfold increase in cardiovascular disease risk compared with non-diabetic individuals. Abnormalities in lipid metabolism that are observed in the context of type 2 diabetes are among the major factors contributing to an increased cardiovascular risk. Diabetic dyslipidaemia includes not only quantitative lipoprotein abnormalities, but also qualitative and kinetic abnormalities that, together, result in a shift towards a more atherogenic lipid profile. The primary quantitative lipoprotein abnormalities are increased triacylglycerol (triglyceride) levels and decreased HDL-cholesterol levels. Qualitative lipoprotein abnormalities include an increase in large, very low-density lipoprotein subfraction 1 (VLDL1) and small, dense LDLs, as well as increased triacylglycerol content of LDL and HDL, glycation of apolipoproteins and increased susceptibility of LDL to oxidation. The main kinetic abnormalities are increased VLDL1 production, decreased VLDL catabolism and increased HDL catabolism. In addition, even though LDL-cholesterol levels are typically normal in patients with type 2 diabetes, LDL particles show reduced turnover, which is potentially atherogenic. Although the pathophysiology of diabetic dyslipidaemia is not fully understood, the insulin resistance and relative insulin deficiency observed in patients with type 2 diabetes are likely to contribute to these lipid changes, as insulin plays an important role in regulating lipid metabolism. In addition, some adipocytokines, such as adiponectin or retinol-binding protein 4, may also contribute to the development of dyslipidaemia in patients with type 2 diabetes. © 2015, The Author(s).


PubMed | Service Endocrinologie
Type: Journal Article | Journal: Diabetologia | Year: 2015

Cardiovascular disease is a major cause of morbidity and mortality in patients with type 2 diabetes mellitus, with a two- to fourfold increase in cardiovascular disease risk compared with non-diabetic individuals. Abnormalities in lipid metabolism that are observed in the context of type 2 diabetes are among the major factors contributing to an increased cardiovascular risk. Diabetic dyslipidaemia includes not only quantitative lipoprotein abnormalities, but also qualitative and kinetic abnormalities that, together, result in a shift towards a more atherogenic lipid profile. The primary quantitative lipoprotein abnormalities are increased triacylglycerol (triglyceride) levels and decreased HDL-cholesterol levels. Qualitative lipoprotein abnormalities include an increase in large, very low-density lipoprotein subfraction 1 (VLDL1) and small, dense LDLs, as well as increased triacylglycerol content of LDL and HDL, glycation of apolipoproteins and increased susceptibility of LDL to oxidation. The main kinetic abnormalities are increased VLDL1 production, decreased VLDL catabolism and increased HDL catabolism. In addition, even though LDL-cholesterol levels are typically normal in patients with type 2 diabetes, LDL particles show reduced turnover, which is potentially atherogenic. Although the pathophysiology of diabetic dyslipidaemia is not fully understood, the insulin resistance and relative insulin deficiency observed in patients with type 2 diabetes are likely to contribute to these lipid changes, as insulin plays an important role in regulating lipid metabolism. In addition, some adipocytokines, such as adiponectin or retinol-binding protein 4, may also contribute to the development of dyslipidaemia in patients with type 2 diabetes.

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