Searchable abstracts of presentations at key conferences in endocrinology

ea0061p005 | (1) | OU2019

Metabolic health and different body composition phenotypes in a Maltese cohort

Agius Rachel , Pace Nikolai , Fava Stephen

It is known that a subset of obese individuals do not exhibit features of the metabolic syndrome (Met-S); these are referred to as being metabolically healthy obese (MHO) individuals. Conversely there are other individuals who although have a normal BMI are insulin resistant and exhibit some of the features of the Met-S and are termed as being metabolically unhealthy normal weight (MUHNW) individuals. This study aims to identify the prevalence of metabolic health among a diffe...

ea0081ep784 | Pituitary and Neuroendocrinology | ECE2022

A novel population of activated cytotoxic T cells infiltrate pituitary neuroendocrine tumour subytpes

Mazzitelli Oriana , Ebejer Jean Paul , Pace Nikolai Paul , Gruppetta Mark , Vassallo Josanne , Saliba David

Non-functional pituitary adenomas (NFPA) are non-hormone secreting pituitary tumours while growth hormone-secreting pituitary adenomas (GHPA) are active pituitary tumours causing acromegaly. Since immunotherapy is becoming the preferred therapeutic strategy in cancers, understanding the diversity of immune cells infiltrating the tumour microenvironment is warranted. However, little is known about the immune landscape of pituitary tumours. We validated an acoustic-assisted hydr...

ea0081p428 | Pituitary and Neuroendocrinology | ECE2022

RNA profiling of human growth hormone-secreting and non-functioning pituitary adenomas reveals novel and differentially expressed immune related genes

Spiteri Emma Jayne , Formosa Robert , Paul Ebejer Jean , Paul Pace Nikolai , Gruppetta Mark , Saliba David , Vassallo Josanne

Pituitary neuroendocrine tumours (PitNETs) are broadly classified as non-functioning pituitary adenomas (NFPAs) and functional pituitary adenomas (FPAs) which include growth hormone secreting adenomas (GHPAs). Since the role of the immune system in PitNET pathogenesis is still poorly understood, we employed RNA-sequencing technology to unravel differentially expressed genes in GHPAs and NFPAs. Here we present an RNA-sequencing workflow of GHPAs (n=3) and NFPAs (n<...

ea0070aep246 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Insights from whole exome sequencing in a Maltese cohort with gestational diabetes

Paul Pace Nikolai , Vella Barbara , Craus Johann , Abou-Hussein Samir , Caruana Ruth , Felice Alex , Savona-Ventura Charles , Vassallo Josanne

Background: Gestational diabetes (GDM) can be driven by mutations or rare variants in various genes associated with monogenic or atypical forms of diabetes. The reported frequency of monogenic defects of beta cell function in GDM varies extensively, in part due to differences in ethnicity, patient ascertainment criteria and techniques used for genetic analysis. The objective was to evaluate the frequency and molecular spectrum of mutations in a curated list of genes associated...