Endocrine Abstracts

Introduction: Ipilimumab is a monoclonal antibody against the inhibitory CTLA-4 receptor expressed on T cells. It provokes an upregulation of the immune system. It is known to cause neuroendocrine disorders, such as hypophysitis, hyppothyroidism/thyroiditis and adrenal insufficiency. Althought it is stipulated that thyroid.stimulating hormone (TSH) levels should be evaluated before administration of each dose of ipilimumab as a screen for thyroid diyfunction, there is no reque...

Introduction: Epigenetic is acquiring great importance in complex diseases, providing mechanisms whereby environmental factors can influence complex diseases such as obesity and type 2 diabetes. Experimental animal and human studies have revealed the association between SCD1 and obesity and insulin resistance. The aim of this study was to evaluate whether metabolic changes after intervention are associated with DNA methylation pattern and if these changes are related to weigh ...

Introduction: The stearoyl-CoA desaturase 1 (SCD1) is an enzyme involved in the metabolism of fatty acids, and seems to be involved in the regulation of atherosclerosis development. In this study we want to check the expression of SCD1 in visceral and subcutaneous adipose tissue and its relationship with the metabolic syndrome.Methods: We measured SCD1 mRNA and protein expression in visceral and subcutaneous adipose tissue from 25 morbidly obese patients...

Introduction: Gastroenteropancreatic neuroendocrine tumors have a highly variable presentation, which can range from benign neoplastic growths to rapidly aggressive malignancies. Neuroendocrine carcinomas of the digestive system are relatively rare. The incidence of GEP NEC in Spain is estimated to be 2.5 – five cases per 100 000 inhabitants.Case: We describe the case of a 67-year-old man, previously diagnosed with hypertension and dyslipidemia. He ...

Background: Abnormal pubertal timing affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. However, despite this strong heritability, little is known about the genetic control of human puberty. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine ...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 111 members of 18 families fro...

Introduction: In a majority of Spanish hospitals, serum sodium levels (SNa) are determined by indirect electrode methodology (sodium in the liquid fraction of serum) divided by the total serum volume (mmol/l). To avoid over/underestimating SNa, a formula can be applied: SNa corrected for total proteins (TP)=SNa×93 divided by (99.1−(0.7×TP)). Hypoproteinaemia is frequent in patients receiving parenteral nutrition (PN), and is probably related to surgery, acute d...

Context: Primary hyperparathyroidism (PHPT) is a common endocrine disease, characterized by the chronic elevation of serum calcium (Ca) levels induced by a long-standing increase of PTH concentrations. PHPT includes mild-asymptomatic and symptomatic forms. Cinacalcet is effective in lowering serum Ca levels in PHPT, but is indicated solely in mild-asymptomatic PHPT meeting surgery criteria. Management of non-surgical mild-asymptomatic PHPT is still a debated issue.<p class...

Introduction: Fatal insomnia is a neurodegenerative spongiform prion disease. Presentation can be sporadic or hereditary (autonomal dominant). The latter, FFI, is caused by a mutation in the human prion protein gene on chromosome 20. Affected individuals present a disorderd sleep-wake cycle, dysautonomia and motor signs, with a predominance of lesions in the thalamus. SIADH has been described in two affected patients.Case Study: A 70-year-old woman was r...

Introduction: Hyponatremia(HN) is frequent in the emergency room(ER), yet often ignored, or poorly studied/managed. Our objective was to determine the characteristics of patients presenting HN at the ER of a general hospital.Methods: Retrospective analysis of all 347 patients(AllP) presenting/developing non-translocational HN (serum sodium (SNa)<135 mmol/l) the first 48 h at the Hospital Clinico San Carlos ER in August 2012. Volemia was determined by...