IIG Seminar Series - Golnaz Vahedi (UPenn) - "Genetic predisposition to type 1 diabetes leads to chromatin misfolding"
Date: Wednesday, 03 27, 2019; Speaker: Golnaz Vahedi; Building: Building 10 (Clinical Center); Lipsett Auditorium; Videocast Event
AbstractThe purpose of this review is to provide a view of the future of genomics and other omics approaches in defining the genetic contribution to all stages of risk of type 1 diabetes and the functional impact and clinical implementations of the associated variants. From the recognition nearly 50 years ago that genetics (in the form of HLA) distinguishes risk of type 1 diabetes from type 2 diabetes, advances in technology and sample acquisition through collaboration have identified over 60 loci harbouring SNPs associated with type 1 diabetes risk. Coupled with HLA region genes, these varia nts account for the majo...
Conclusions/interpretationIn Denmark, children with type 1 diabetes generally feel well supported in school but have more headaches than other children. Poor glycaemic control is associated with worse psychological school-related wellbeing.Graphical abstract
In conclusion, children and adolescents with ITP present high frequency of latent and overt polyautoimmunity even for autoantibodies other than ANA. Therefore, ANA and other non–organ-specific and organ-specific autoantibodies should be considered for assessment during ITP patients’ follow-up.
Survey finds patients with type 1 diabetes generally view pandemic-imposed telemedicine visits favorably, regardless of age and education level.Medscape Medical News
Diabetes Technology&Therapeutics, Ahead of Print.
Nivolumab, a fully human IgG4 immune checkpoint inhibitor (ICI) antibody, has been approved for a variety of cancers. Several endocrine-associated immune-related adverse events have been reported, but the incidence rate is relatively low. This is a case of a patient with gastric cancer who underwent nivolumab therapy, leading to type 1 diabetes as well as adrenocorticotropic hormone (ACTH) deficiency and hypothyroidism almost simultaneously. A 70-year-old man with no previous history of diabetes was treated with nivolumab monotherapy for gastric cancer in November 2018. After 8 courses of nivolumab, he was diagnosed with t...
Mutations in the MT-ATP6 are a well-known cause of maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31-year-old female with type 1 diabetes mellitus, recurrent severe lactic acidosis and ketoacidosis, recurrent infections with suspected immunodeficiency with T cell lymphopenia and hypogammaglobulinaemia, as well as proximal tetraparesis with severe muscle and limb pain and rapid physical exhaustion. Muscle biopsy and respiratory chain activities were normal.