Endocrine Abstracts

Background and aims: MEHMO is an X-linked syndrome comprising Mental retardation, Epilepsy, Hypogenitalism, Microcephaly and Obesity. It is caused by a damaging p.Ile465Serfs frameshift mutation in EIF2S3 that encodes the □ subunit of eukaryotic translation initiation factor 2 (eIF2), essential for protein synthesis and regulation of the integrated stress response. Patients with this EIF2S3 mutation also have neonatal hypoglycemia, early onset insulin-...

Background and aims: Diabetes currently affects 425 million people worldwide. Pancreatic β-cell failure is central in the development and progression of type 1 and type 2 diabetes. Diabetes research is slowed by the difficulty to study the diseased tissue, i.e. human islet bcells: these are only available in a few donor organ transplantation centers worldwide. β-cells differentiated from human induced pluripotent stem cells (hiPSCs) represent a novel cell source. Cur...

Objectives: Pre-clinical medical education is mainly delivered in didactic large-group lectures, where complex new terminology and concepts are introduced. Mounting evidence suggests that pre-class activities introducing new material can increase student performance. Concise Medical Information Cines (CoMICs) compresses information on various diseases into 5-minute videos. This study assessed the effectiveness of CoMICs as a pre-lecture resource to enhance learning and motivat...

Background: SIMBA is a simulation-based learning platform designed to increase clinicians’ confidence in managing various clinical scenarios. The restriction of face-to-face learning during the COVID-19 pandemic led to switching Simulation via Instant Messaging – Birmingham Advance (SIMBA) to entirely virtual sessions.Objective: To explore SIMBA’s effectiveness to sustain medical education in endocrinology during the pandemic.<p class=...

IntroductionIn response to the COVID-19 pandemic, delivery of medical education has transitioned from predominantly in-person teaching to virtual platforms. Simulation-based learning is a successful teaching modality to develop clinicians’ knowledge and skill, while safeguarding patients. Simulation has traditionally been performed via face-to-face role play, however many of its principles can be adapted for remote use. We explored the effectiveness...

Background: The COVID-19 pandemic restricted face-to-face teaching leading to increased use of virtual learning platforms. Launched in 2019, Simulation via Instant Messaging – Birmingham Advance (SIMBA) delivers simulation-based learning to increase clinicians’ confidence in managing various clinical scenarios.Objective: To explore SIMBA’s effectiveness to sustain medical education in endocrinology during the pandemic.<p class="abstext...

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...