Endocrine Abstracts

Paragangliomas and pheochromocytomas (PPGL) are neuroendocrine tumors with a very strong genetic component. A germline mutation in one of the different susceptibility genes identified so far explains about 40% of all cases. Genetic testing is recommended in every affected patient and next-generation sequencing (NGS) is the ideal technology to screen the high number of PPGL susceptibility genes (1). The interpretation of genetic variants identified by NGS can be guided by the c...

Pre-gestational diabetics frequently rise to the challenge of pregnancy with remarkable improvements in diabetic control. Optimising pregnancy outcomes necessitates rigorous diabetes self-care, which is critically dependent on women’s capacity and the support they receive. The aim of this study was to identify self-reported drivers and inhibitors of self-care in pre-gestational diabetic pregnancies. The study was carried out at a tertiary referral maternity unit. Convenie...

Routine thyroid function testing (TFT) in hospitalised patients is not recommended; however, delayed management of thyroid dysfunction may have significant consequences. We quantified the rate of TFT in hospitalised patients and identified factors influencing the likelihood of finding significantly abnormal TSH (<0.01 or >10 mUI). TFTs were performed during 26 937/280 000 (9.6%) admissions between 2007 and 2011. 57.6% of those tested were female and mean age was 63.8 (...

Introduction: We evaluated Twin Precision Treatment (TPT) approach, a cluster of Internet of Things (IoT) and Artificial Intelligence (AI), validated biosensors and Continuous Glucose Monitoring (CGM) through Ambulatory Glucose Profile (AGP) integrated with machine learning algorithms, enabling physicians to empower patients to reverse diabetes.Methods: 64 T2DM (19 males, 45 female), registered on Twin Health TM service, managed by standard care of appro...

Background: There have been a number of drivers that have led nurses to take on extended roles that have been traditionally been the domain of doctors. Competency frameworks for specialist nurses have been developed in other paediatric specialities, such as diabetes, oncology and epilepsy. However, this has not been established for paediatric endocrine nurses.Aim: To establish a competency framework for paediatric endocrine nurse specialists.<p class...

Background: Thyroid nodules are the most common endocrine pathology. Due to the widespread use of imaging modalities, mostly ultrasound, the incidental finding of thyroid nodules has increased, reaching a prevalence of 50-60% in adults. Diagnostic definition and therapeutic interventions represent thus an increasing cost for health system. In patient with benign thyroid nodule causing local symptoms, hemithyroidectomy with isthmectomy or total thyroidectomy are the recommended...

Background: 10% of pancreatic neuroendocrine tumors (pNETs) are thought to be related to inherited syndromes, (MEN1, MEN4, VHL, NF1 and TSC). Growing evidence suggests, that clinically sporadic appearing pNETs can harbor germline mutations. Here, we report the prevalence of pathological/likely pathological germline variants (P/LP) in 2 cohorts: 1) High-risk and 2) Unselected.Methods: We retrospectively collected clinical data of pNET patients seen at MD ...

Recent years have seen an increasing effort to decode the cancer genome. Most of the studies have focused on the coding genome to identify cancer driver genes. My group is interested in the role of the non-coding genome and its potential contribution to the drive transcriptional aberrations in breast cancer patients. To do so we use a wide-spectrum of techniques including genomic, epigenomics in patient-derived samples. I will present the results of a couple of studies in whic...

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...

Objectives: NTRK gene fusions are oncogenic drivers in many solid tumours, including thyroid cancers. In the phase 2 study STARTRK-2 (NCT02568267), entrectinib (a CNS-active tropomyosin receptor kinase [TRK] inhibitor) demonstrated efficacy in patients with NTRK-fp thyroid cancer (objective response rate [ORR]: 40%; clinical cut-off: 31 Oct 2018; n=5). We report updated data from a larger cohort with longer follow-up.Methods: A...