Endocrine Abstracts

Introduction: Human tear is rich in cytokines, i.e. in healthy individuals it exhibits a higher ratio of cytokines to total proteins than that in the serum of the same individual. EOP related to Graves–Basedow disease is thought to develop due to elevation of serum cytokine levels and to an altered cytokine response of the intra- and periorbital tissues. In our present study we focused on the measurement of IL6, IL8 and TNF-α, the relative amount of a lipocalin-type ...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

Multiple endocrine neoplasia type2A (MEN 2A) is a syndrome of familial cancers characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands. RET protooncogene is the responsible gene for MEN 2A; in more than 96% of MEN 2A families mutations in RET exon 10 or exon 11 are identified. Herein we report a MEN 2A case affected by a mutation (Gly533Cys) in exon 8. A 66-yr-old male patient was referred to our Department due ...

The aim of this study was to compare metabolic profile in hypertensive obese and lean subjects. The study population consisted of 76 patients. We measured fasting glucose and insulin levels, triglycerides, total, LDL and HDL cholesterol. We also estimated the BMI, WHR, systolic (SBP) and diastolic blood pressure (DBP). We used WHO criteria for abdominal obesity (WHR>0.90 men, >0.85 women), and WHO criteria for diagnosing the metabolic syndrome (triglyceride>1.7 mmo...

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

We aimed to establish the extent of adult cystic fibrosis-related diabetes (CFRD) in Ireland, and examine the differences between patients with CFRD and those with normal glucose handling.We conducted a retrospective analysis of patients with cystic fibrosis (CF) who attend the national referral centre for adult CF. Data including lung spirometry, sputum microbiology, bone mineral density and genotype were collected. Patients were diagnosed as having CFR...

Testosterone is a coronary vasodilator and is known to increase ischaemic threshold in men with angina. We have previously demonstrated that testosterone inhibits the pore forming alpha1c subunit of the cardiovascular L-type calcium channel transfected into HEK293 cells. In this study we have investigated the effect of testosterone on potassium-stimulated extracellular calcium entry in A7r5 vascular smooth muscle cells (VSMCs).A7r5 cells grown...

The kidney plays a dominant role in long-term blood pressure (BP) control and electrolyte homeostasis but aldosterone (aldo) responsive molecular pathways in the kidney involved in regulating BP remain poorly understood despite identification of several participant genes. Many human single gene disorders affecting BP have been faithfully reproduced in mice by targeting the corresponding genes. Thus mouse is an excellent model to study molecular pathways underlying hypertension...

Renal sodium handling and responses to aldosterone (aldo) are conserved across species and intrinsic to the dominant role of the kidney in long-term blood pressure (BP) control. Molecular pathways involved in hypertensive responses to aldo and escape from these remain largely unclear despite identification of several participant genes. We have characterized renal gene expression changes in mice, receiving aldo and/or dietary salt excess, using microarray analysis and concurren...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...