Endocrine Abstracts

Mice with isolated GH deficiency (IGHD) due to GHRH receptor mutations live longer than their normal siblings with an extended healthspan, i.e., the period of life free from disabilities. Human IGHD individuals due to a mutation in the GHRH receptor gene from Itabaianinha, Brazil, has a normal lifespan with an extended healthspan (1). Our hypothesis is that their aging is accompanied by a delayed cognitive decline. Accordingly, we used the Literacy Independent Cognitive Assess...

Population aging has become a universal worldwide phenomenon. Developing countries (such as Portuguese-speaking countries, with a high rate of illiteracy) will see the greatest increase in the absolute number of elderly people, and dementia disorders will pose enormous challenges to public health in these countries. Although the decline in GH secretion with age has been associated with deleterious conditions of aging, our understanding is the opposite, that the decline in GH s...

At implantation, the ability of an embryo to successfully attach to the luminal epithelium is dependent on the receptive phenotype the endometrium must acquire. This spatially and temporally restricted period of uterine receptivity is defined by endometrial molecular adaptations, highly regulated by embryonic-derived signals and ovarian steroids. Critical to this isthe expression of adhesivemoleculesintegrins and osteopontin (OPN) at the foetal-maternal interface which facilit...

Integrins are cell-extracellular matrix adhesion molecules considered functionally related to the development of cancer metastasis. Starting from the dataset of mRNA-seq of papillary thyroid carcinoma (PTC) from the TCGA, we determined the expression of fibronectin 1 (FN1) and fibronectin-binding integrins in PTC. We then analyzed the association of the expression of these two genes with the driver genes, the stage of the disease and its outcome. 355 PTCs and 58 normal thyroid...

Osteogenesis imperfecta (OI) is a heritable skeletal disorder caused by defective bone formation. OI type V (MIM#:614757) develops due to mutation in the IFITM. Mutation c.-14C >T in the IFITM5 is more common whereas only five reported patientshave a c.119C >T mutation. Patients with IFITM5:c.119C >T mutation usually have low-traumatic fractures in the prenatal period of development, severe limb and chest deformities, short height, verteb...

T3 and T4 rapidly activate intracellular signalling cascades via thyroid hormone receptor (TR)-independent actions, suggesting the existence of a plasma membrane receptor. Recent studies support a role for the RGD recognition site of integrin, a transmembrane glycoprotein, as a cell surface TR. We have demonstrated, using PCR and Western blotting, the expression of integrin αVβ3 mRNA and protein in the transformed human osteosarcoma cell line MG...

Background: Women with polycystic ovary syndrome (PCOS) may have increased cardiovascular (CV) risk but the mechanisms are unclear. Microparticles (MP), small circulating vesicles released from platelets, monocytes and endothelial cells, are elevated in patients with CV disease, and may increase CV risk through altered cell content and/or increased surface exposure of procoagulant phosphatidylserine (PS).Aims: To compare MP characteristics between women ...

Aim: An international expert committee, after considering data on association of HbA1c and retinopathy, recommended that diabetes be diagnosed when HbA1c is more than 48 mmol/mol (>6.5%), provided this assay is done in a standardized laboratory. However, the performance of HbA1c in detecting diabetes in the Korean population remains unknown. The purpose of this study was to evaluate the efficiency of HbA1c in diagnosing diabetes and to identify the optimal threshold in the...

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

In recent years, an increasing interest in an individualized approach for the care of patients with differentiated thyroid cancer has occurred. The cornerstone of individualized treatment is the existence of a proper risk stratification system that supports physicians’ options regarding the treatment and follow-up of patients. Considering that the initial risk stratification systems account for only about 15–20% of the variability in the outcome they are trying to pr...