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Bandini A.,University of Florence | Orlandi S.,University of Florence | Manfredi C.,University of Florence | Evangelisti A.,University of Florence | And 3 more authors.
Microvascular Research | Year: 2013

The presence of dysautonomia in diabetic neuropathy is correlated with impairment of vasomotor activity that drives blood microcirculation. Microcirculation, in turn, plays an important role in thermoregulation. In this work, we investigate the changes between two different physiological conditions of diabetic patients, induced by FREMS application, in the control of skin temperature, using a minimally invasive experiment. Skin is warmed up to a fixed temperature (44 °C) for a few minutes, then the heat source is turned off, letting the skin recover its physiological temperature. Both temperature and local blood flow, the latter measured with laser Doppler, are monitored during the experiment. A simple model of the cooling phase is used to evaluate the time constants involved in the process. Results indicate that significant differences exist in the model parameters between the two conditions. © 2013 Elsevier Inc. Source

Al-Shawi M.,Maternity and Children Hospital | Mutair A.A.,King Saud bin Abdulaziz University for Health Sciences | Ellard S.,University of Exeter | Habeb A.M.,Endocrine and Diabetes Unit
Journal of Pediatric Endocrinology and Metabolism | Year: 2013

Wolcott-Rallison syndrome (WRS) is a rare condition characterized by permanent neonatal diabetes (PND), skeletal dysplasia, and recurrent hepatitis. Other features, including central hypothyroidism, have been reported. We compared the phenotype of five patients from two families with WRS caused by the same EIF2AK3 mutation who have been followed up since diagnosis. Direct sequencing of the EIF2AK3 gene identified a homozygous frameshift mutation (c.1259delA) in all patients that has been reported only in these families. All patients presented with PND and four experienced recurrent hepatitis. A 3.5-year-old girl has isolated PND, whereas her younger sister has typical WRS features. Two children developed skeletal abnormalities and two had transient central hypothyroidism. Other reported features of WRS were not detected. The EIF2AK3 c.1259delA mutation results in a variable phenotype, ranging from isolated PND to typical WRS. Thyroid dysfunction in WRS is a transient phenomenon refl ecting euthyroid sickness. © 2013 by Walter de Gruyter. Source

Summary: Diabetes is a multisystem disorder. Diabetes care is a multidisciplinary process. The Bildirici Center for Diabetes Care and Research opened its doors to its first patients in August 2007, as the first center in Israel to offer comprehensive integrated multidisciplinary care for people with diabetes. In addition to direct patient care, the Center has organized courses, lectures and workshops for people with diabetes, as well as for professionals caring for people with diabetes and for the general community. The ability of individuals within different departments to develop and implement such a center may have been facilitated by the smallness of our institution and the familiarity they share as a result. We have shown how a community hospital, without ties to a major medical center or academic institution, can establish a multidisciplinary inpatient and outpatient diabetes center, the first of its kind in a country. © 2012 John Wiley & Sons, Ltd. Source

Oboni J.-B.,Internal Medicine Unit | Marques-Vidal P.,University of Lausanne | Pralong F.,Endocrine and Diabetes Unit | Waeber G.,Internal Medicine Unit | Waeber G.,University of Lausanne
BMC Endocrine Disorders | Year: 2013

Background: Adrenal insufficiency is a rare and potentially lethal disease if untreated. Several clinical signs and biological markers are associated with glucocorticoid failure but the importance of these factors for diagnosing adrenal insufficiency is not known. In this study, we aimed to assess the prevalence of and the factors associated with adrenal insufficiency among patients admitted to an acute internal medicine ward.Methods: Retrospective, case-control study including all patients with high-dose (250 μg) ACTH-stimulation tests for suspected adrenal insufficiency performed between 2008 and 2010 in an acute internal medicine ward (n = 281). Cortisol values <550 nmol/l upon ACTH-stimulation test were considered diagnostic for adrenal insufficiency. Area under the ROC curve (AROC), sensitivity, specificity, negative and positive predictive values for adrenal insufficiency were assessed for thirteen symptoms, signs and biological variables.Results: 32 patients (11.4%) presented adrenal insufficiency; the others served as controls. Among all clinical and biological parameters studied, history of glucocorticoid withdrawal was the only independent factor significantly associated with patients with adrenal insufficiency (Odds Ratio: 6.71, 95% CI: 3.08 -14.62). Using a logistic regression, a model with four significant and independent variable was obtained, regrouping history of glucocorticoid withdrawal (OR 7.38, 95% CI [3.18 ; 17.11], p-value <0.001), nausea (OR 3.37, 95% CI [1.03 ; 11.00], p-value 0.044), eosinophilia (OR 17.6, 95% CI [1.02; 302.3], p-value 0.048) and hyperkalemia (OR 2.41, 95% CI [0.87; 6.69], p-value 0.092). The AROC (95% CI) was 0.75 (0.70; 0.80) for this model, with 6.3 (0.8 - 20.8) for sensitivity and 99.2 (97.1 - 99.9) for specificity.Conclusions: 11.4% of patients with suspected adrenal insufficient admitted to acute medical ward actually do present with adrenal insufficiency, defined by an abnormal response to high-dose (250 μg) ACTH-stimulation test. A history of glucocorticoid withdrawal was the strongest factor predicting the potential adrenal failure. The combination of a history of glucocorticoid withdrawal, nausea, eosinophilia and hyperkaliemia might be of interest to suspect adrenal insufficiency. © 2013 Oboni et al.; licensee BioMed Central Ltd. Source

Jebasingh F.,Christian Medical College and Hospital | Paul T.V.,Christian Medical College and Hospital | Spurgeon R.,Christian Medical College and Hospital | Abraham S.,Christian Medical College and Hospital | Jacob J.J.,Endocrine and Diabetes Unit
Singapore Medical Journal | Year: 2010

A 19-year-old Indian man presented with a history of proximal muscle weakness, knock knees and gynaecomastia. On examination, he had features of rickets and bilateral small testes. Karyotyping revealed a chromosomal pattern of 47,XXX, confirming the diagnosis of Klinefelter's syndrome. He was also found to have hyperchloraemic metabolic acidosis with hypokalaemia, hypophosphataemia, phosphaturia and glycosuria, which favoured a diagnosis of proximal renal tubular acidosis. Patients with Klinefelter's syndrome typically have a tall stature due to androgen deficiency, resulting in unfused epiphyses and an additional X chromosome. However, this patient had a short stature due to associated proximal renal tubular acidosis. To the best of our knowledge, this is the second case of Klinefelter's syndrome with short stature due to associated renal tubular acidosis reported in the literature. This report highlights the need to consider other causes when patients with Klinefelter's syndrome present with a short stature. Source

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