Endocrine Abstracts

Introduction: Williams–Beuren syndrome is a rare genetic condition with clinical manifestations that include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile.Case report: We present a particular case of a 3.5 years old boy, born SGA at 39 weeks of gestation with neonatal hypoxia, diagnosed at 1.6 y...

Introduction: Di George syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart defects, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with hypocalcaemia, gastrointestinal problems, delayed psychomotor development, craniofacial abnormalities, tendency to develop seizures and psychiatric disorders.Case report: We present the case of two patients wit...

Background: Adrenocortical carcinoma is a rare endocrine malignancy with poor prognosis and few treatment options in advanced disease. Immune checkpoint inhibitors (ICI) have been studied in few clinical trials with a limited number of patients in ACC. No real-life data are available so far. In the present study we aimed at evaluating treatment response and safety of ICI treatment in advanced ACC and identifying clinical, biochemical, histological and molecular markers for pre...

Background: DNA mismatch repair (MMR) maintains genomic integrity and stability. Inactivation of the MMR genes MLH1, PMS2, MSH2, and MSH6 by somatic or germline variants or gene methylation causes MMR deficiency (dMMR) leading to microsatellite instability (MSI) and high tumour mutational burden. In many tumour entities, patients with dMMR/MSI respond well to immune checkpoint inhibitor (ICI) therapy. The clinical relevance of dMMR and MSI i...

Proton nuclear magnetic resonance spectroscopy (1H-NMR) was applied to investigate metabolic profile of type 2 diabetes mellitus (T2DM) patients and identify possible disorders of T2DM.We investigate the potential relationship between diabetic retinopathy (DR), diabetic neuropathy (DN), estimated glomerular filtration rate (eGFR), anthropometric indicators (body mass index (BMI), waist circumference (WC), waist to hip ratio (WHR), waist to sta...