Endocrine Abstracts

Introduction: Neonatal diabetes is a rare condition diagnosed within the first months of life. Activating mutation of KCNJ11, the gene encoding the Ki6.2 subunit of the ATP-sensitive potassium channel, is the most common cause of permanent neonatal diabetes, and ~20% of patients have neurological features.Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Inte...

Background: Visceral obesity has been associated with systemic oxidative stress, measured by oxidized LDL (oxLDL).Aim: Investigate circulating oxLDL levels in patients with visceral obesity, and its relationship with metabolic abnormalities found in visceral obesity.Methods: We evaluated blood pressure (BP), waist circumference (WC), fasting glucose, total cholesterol, LDL, HDL, triglycerides, ApoA1, ApoB, ApoCIII, Lp(a) and oxLDL ...

Introduction: Pendred syndrome is a rare autosomal recessive disease and the classic triad is congenital sensorineural hearing impairment, goiter and impaired iodine organification with abnormal perchlorate discharge test, but hypothalamic tumors are not a feature of this syndrome.Case report: We report a case of a 32-year-old female with Pendred syndrome confirmed by genetic testing and perchlorate discharge test, with goiter, hypothyroidism treated wit...

Introduction: Liquid silicone is an inert material that as minimal local tissue reaction, but it is the systemic complications, such as silicone embolism and acute respiratory distress syndrome (ARDS) that carry the highest associated morbidity. Liquid silicone is frequently used for illegal cosmetic procedures in transsexual patients, and the most common injection sites are the hips, buttocks, face and breasts.We report a case of silicone embolism with ...

Necrotizing fasciitis is a rare infection of the soft tissues with consequent necrosis of fascial planes and surrounding tissues. If misdiagnosed or not properly treated it can be fatal. It typically follows trauma and it have already been described after intramuscular or intravenous injection of insulin.The authors present a case of a 24-year-old man, with type 1 diabetes mellitus for more than ten years, admitted to the emergency room for diabetic keto...

Introduction: Successful whole pancreas transplantation is at the present the most effective treatment for type 1 diabetes but allograft dysfunction related with infection, vascular compromise or immunological causes are not uncommon. Usually, graft vascular thrombosis or haemorrhage, as well as infectious complications are responsible for early pancreas graft failure; late cases occur more frequently by immunological causes, either allograft rejection or recurrence of the &#1...