Category: Wolfram syndrome

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome

Front Neurosci. 2022 Apr 12;16:795317. doi: 10.3389/fnins.2022.795317. eCollection 2022. ABSTRACT Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming […]

Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature

J Neurol Sci. 2022 Jun 15;437:120267. doi: 10.1016/j.jns.2022.120267. Epub 2022 Apr 20. ABSTRACT Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS […]

The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies

Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. ABSTRACT PURPOSE: To describe the clinical phenotype of a cohort of patients with Wolfram syndrome (WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance imaging (MRI) measurements, as compared with patients with OPA1-related dominant optic atrophy (DOA). DESIGN: Retrospective, comparative […]

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report

J Clin Res Pediatr Endocrinol. 2022 Aug 19. doi: 10.4274/jcrpe.galenos.2022.2022-4-11. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy (OA). Individuals with WS initially present with autoantibody-negative type 1 DM (T1BDM). The diagnosis is often […]

Cardiovascular risk factors, exercise capacity and health literacy in patients with chronic ischaemic heart disease and type 2 diabetes mellitus in Germany: Baseline characteristics of the Lifestyle Intervention in Chronic Ischaemic Heart Disease and Type 2 Diabetes study

Diab Vasc Dis Res. 2022 Jul-Aug;19(4):14791641221113781. doi: 10.1177/14791641221113781. ABSTRACT BACKGROUND: Lifestyle interventions are a cornerstone in the treatment of chronic ischaemic heart disease (CIHD) and type 2 diabetes mellitus (T2DM). This study aimed at identifying differences in clinical characteristics between categories of the common lifestyle intervention targets BMI, exercise capacity (peak V̇O2) and health literacy […]

Petrified heart in a patient with Wolfram Syndrome

J Public Health Res. 2022 Jul 9;11(3):22799036221107063. doi: 10.1177/22799036221107063. eCollection 2022 Jul. ABSTRACT Myocardial calcification is a rare complication of severe systemic sepsis. The pathophysiological mechanisms underlying calcium accumulation in cardiomyocytes in generalized sepsis are complex and still under investigation. It is a serious and life-threatening condition, usually diagnosed by autopsy, rarely with imaging techniques. […]

Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome

Am J Ophthalmol. 2022 Nov;243:10-18. doi: 10.1016/j.ajo.2022.07.003. Epub 2022 Jul 16. ABSTRACT PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination. DESIGN: Single-center, cohort study. METHODS: A total of 38 participants were studied, who underwent a […]

Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):698-702. doi: 10.3760/cma.j.cn511374-20210603-00469. ABSTRACT OBJECTIVE: To explore the genetic pathogenicity for a Chinese pedigree affected with severe syndromic deafness. METHODS: High-throughput sequencing was carried out to analyze the 415 genes associated with hereditary deafness in the proband who has hearing loss in association with optic […]

Diagnosis of Parkinson syndrome and Lewy-body disease using 123I-ioflupane images and a model with image features based on machine learning

Ann Nucl Med. 2022 Aug;36(8):765-776. doi: 10.1007/s12149-022-01759-z. Epub 2022 Jul 7. ABSTRACT OBJECTIVES: 123I-ioflupane has been clinically applied to dopamine transporter imaging and visual interpretation assisted by region-of-interest (ROI)-based parameters. We aimed to build a multivariable model incorporating machine learning (ML) that could accurately differentiate abnormal profiles on 123I-ioflupane images and diagnose Parkinson syndrome or […]