Culprit plaque morphology determines inflammatory risk and clinical outcomes in acute coronary syndrome
Eur Heart J. 2023 Jun 29:ehad334. doi: 10.1093/eurheartj/ehad334. Online ahead of print. ABSTRACT AIMS: Rupture of the fibrous cap (RFC) and erosion of an intact fibrous cap (IFC) are the two predominant mechanisms causing acute coronary syndromes (ACS). It is uncertain whether clinical outcomes are different following RFC-ACS vs. IFC-ACS and whether this is affected […]
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder
Front Clin Diabetes Healthc. 2023 Jun 2;4:1171091. doi: 10.3389/fcdhc.2023.1171091. eCollection 2023. ABSTRACT WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. The prognosis is poor as most patients die prematurely with severe neurological disabilities […]
Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior
Basic Clin Neurosci. 2022 Nov-Dec;13(6):893-900. doi: 10.32598/bcn.2021.910.3. Epub 2022 Nov 1. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous […]
Targeting Ca2+-dependent pathways to promote corneal epithelial wound healing induced by CISD2 deficiency
Cell Signal. 2023 Jun 12:110755. doi: 10.1016/j.cellsig.2023.110755. Online ahead of print. ABSTRACT Chronic epithelial defects of the cornea, which are usually associated with severe dry eye disease, diabetes mellitus, chemical injuries or neurotrophic keratitis, as well as aging, are an unmet clinical need. CDGSH Iron Sulfur Domain 2 (CISD2) is the causative gene for Wolfram […]
Peculiar Outer Plexiform Layer in Autosomal Dominant Wolfram Syndrome
Ophthalmol Retina. 2023 Jun 9:S2468-6530(23)00226-9. doi: 10.1016/j.oret.2023.05.015. Online ahead of print. NO ABSTRACT PMID:37306650 | DOI:10.1016/j.oret.2023.05.015
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes
Sci Rep. 2023 Jun 5;13(1):9127. doi: 10.1038/s41598-023-36334-7. ABSTRACT Diabetes is one of the most common phenotypes of Wolfram syndrome owing to the presence of the variants of the WFS1 gene and is often misdiagnosed as other types of diabetes. We aimed to explore the prevalence of WFS1-related diabetes (WFS1-DM) and its clinical characteristics in a […]
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia
Life (Basel). 2023 Apr 24;13(5):1080. doi: 10.3390/life13051080. ABSTRACT Next-generation sequencing (NGS) has revolutionized the field of genomics and created new opportunities for basic research. We described the strategy for the NGS validation of the “dysglycaemia panel” composed by 44 genes related to glucose metabolism disorders (MODY, Wolfram syndrome) and familial renal glycosuria using Ion AmpliSeq […]
Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review
Taiwan J Obstet Gynecol. 2023 May;62(3):440-443. doi: 10.1016/j.tjog.2022.12.011. ABSTRACT OBJECTIVE: Wolfram Syndrome (WS) is a rare autosomal recessive neurodegenerative disorder caused by mutations in WFS1 or CISD2 (WFS2). We present a rare case report of pregnancy with WFS1 spectrum disorder (WFS1-SD) in our hospital and reviewed literature to provide the management of pregnancy in these […]
Wolfram syndrome: new pathophysiological insights and therapeutic strategies
Ther Adv Rare Dis. 2021 Aug 16;2:26330040211039518. doi: 10.1177/26330040211039518. eCollection 2021 Jan-Dec. ABSTRACT Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration. Visual loss in WS is an important cause of registrable blindness in children and young adults and the […]
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome
Stem Cell Reports. 2023 May 9;18(5):1090-1106. doi: 10.1016/j.stemcr.2023.04.002. ABSTRACT Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident protein WFS1 causes Wolfram syndrome (WS), a rare early-onset neurodegenerative disease that has been linked to mitochondrial […]