Endocrine Abstracts

Background: Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are common disorders with an autoimmune etiology, which are known as autoimmune thyroid diseases (AITD). A specific seasonal pattern of the month of birth has been suggested in several autoimmune disorders, supporting the hypothesis of a link between viral infections and the development of aberrant immune-regulatory mechanisms. However, there are few studies which specifically address this issue in AIT...

Neuroendocrine tumors (NETs) are a class of rare and heterogeneous neoplasms derived from the neuroendocrine system. Animal models are indispensable tools for investigating the pathogenesis, mechanisms for tumour invasion and metastasis and new therapeutic approaches for cancer. Unfortunately, only few models are available for NETs, probably due to the rarity and heterogeneity of this group of neoplasms. The tropical teleost zebrafish (Danio rerio) is a popular vertebrate mode...

Introduction: Signalling lymphocytic activation molecule SLAMF1 (CD150) is a modulatory receptor expressed in most immune cells. Different data indicate that CD150 is involved in T cell cytokine production, NK cell and CD8 T cell mediated cytotoxicity, and T regulatory (Treg) cell activity. Patients with autoimmune thyroid disease (AITD) show defects in their immune-regulatory mechanisms. Herein we assessed the expression and function CD150 in lymphocytes subpopulations from p...

Context: T regulatory type 1 (Tr1) cells are a subpopulation of T lymphocytes (CD4+CD49+LAG-3+IL-10+) lymphocytes that exerts a significant immunosuppressive effect. However, its possible role in autoimmune thyroid disease (AITD) had not been explored so far.Objective: To analyze the levels and function of Tr1 cells in peripheral blood and thyroid tissue of patients with AITD.Design: Cases and controls, observational study.<p c...

UPD is a congenital disease characterized by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Its effects can be dramatic when the expression of essential genes is lacking. This is due to a phenomenon known as genomic imprinting where only one of the two chromosomal copies is active, depending on the parent of origin. Maternal uniparental disomy of the chromosome 14 (UPD 14 mat) is a rare disorder characterized by prenatal a...

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...

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.Case Report: ...

Introduction: The plasticizer Bisphenol A (BPA) is an endocrine disruptor with thyroid interfering activity. Obesity is a recognized risk factor for thyroid cancer. A recent study showed that subjects with BMI ≥ 25 are more prone to BPA-related thyroid disruption. To date, few and controversial experimental and epidemiological data provide weak evidence about a correlation between BPA exposure and thyroid cancer development. Aim of the present study was to assess a possi...

Introduction: GH deficiency (GHD) is a clinical disorder characterized by pathological short stature in the child, altered body composition, impaired psychological well-being and reduced quality of life. These alterations are almost always reversible after recombinant human GH (rhGH) administration, which is currently the only accepted treatment for the subjects with GHD. Secretory dysfunction is confirmed when GH peak does not reach the established cut-off in at least two dif...

Background: Traumatic brain injury (TBI) is a major cause of disability and death, and a cause of neuroendocrine dysfunction. Partial or complete pituitary dysfunction is a frequent event occurring in 25–50% of subjects after a TBI as result from damage to either the pituitary or the hypothalamus. This large variability depends on the screening methods and on the difficulty to predict the effects of the trauma on pituitary. Growth hormone deficiency and gonadotropin defic...