Endocrine Abstracts

Background: Effects of cardiac rehabilitation (CR) on glucose metabolism of coronary artery disease (CAD) patients (pts) without diabetes has not been assessed.Aim: Evaluate effects of an intensive CR program on glucose metabolism of no-diabetic CAD pts with.Methods: Sixty non-diabetic pts (M/F 53/7), age 71.2±9.2, were submitted to a 3 week CR program. Oral glucose tolerance test (OGTT), HOMA index, six minute walking test (6...

Background and aims: Longitudinal data from the North West Adelaide Health Study (NWAHS) were used to examine the effect of development of metabolic syndrome between Stage 1 (2000–2003) and Stage 2 (2004–2006) on quality of life.Material and methods: The NWAHS is a random, representative sample of people aged 18 years and over living in the north west region of Adelaide. Participants were recruited via telephone interviews to attend the clinic....

Introduction: Some studies suggest a possible link between autoimmune thyroid disease (AITD) and thyroid cancer (TC). However, existing data is inconsistent, and no consensus exists regarding this question.Objective: The aim of this study was to analyze the association between TC and AITD, namely Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).Methods: We conducted a retrospective and observational study of all pati...

Non-alcoholic steatohepatitis (NASH) is a clinical entity characterized by the infiltration of fat into the liver associated with hepatic inflammation. The etiology is unknown, however its most frequently observed in patients with type 2 diabetes mellitus (DM 2), obesity or insulin resistance. DM 2 is an independent risk factor for the progression of NASH. Usually there are no symptoms, so it is not possible to estimate its prevalence. The treatment focuses on the control of a...

Non-alcoholic steatohepatitis (NASH) is a clinical entity characterized by the infiltration of fat into the liver associated with hepatic inflammation. The etiology is unknown, however its most frequently observed in patients with type 2 diabetes mellitus (DM 2), obesity or insulin resistance. DM 2 is an independent risk factor for the progression of NASH. Usually there are no symptoms, so it is not possible to estimate its prevalence. The treatment focuses on the control of a...

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

HDR syndrome is a rare condition with an autosomic dominant inheritance, firstly described in 1977. It is due to a mutation of GATA3 gene, a transcription factor expressed in parathyroid, inner ear, kidney, central nervous system and T lymphocytes. The most common manifestation is neurosensorial deaf, secondary to progressive degeneration of coclear cells. Hypoparathyroidism is present in 90% of patients that can be asymptomatic or, sometimes presents with ne...

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

The clinical diagnosis of MEN1 is established when a proband manifests at least two of the manifestations of the triad (Primary Hyperparathyroidism (PHPT), Pituitary adenoma, Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET)). Typically, it is a familial disease (F-MEN1), while in about 10% of cases the disease is sporadic. In sporadic forms (S-MEN1), up to 70% of patients may exhibit a negative genetic analysis (MEN1-negative). These patients seem to have distinc...

Subtotal parathyroidectomy (PTX) is considered the surgery of choice for patients with MEN1, because it optimally balances the risk of recurrence/persistence against surgical complications. Notably, MEN1 patients negative at the genetic test (MEN1-negative) seem to exhibit distinct clinical characteristics compared to their mutated counterparts (MEN1-positive). Therefore, we hypothesized that these patients may also have a different surgical outcome. The obje...