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 […]
Wolfram syndrome with a rare genetic mutation – Case report
Indian J Ophthalmol. 2022 Jul;70(7):2755-2757. doi: 10.4103/ijo.IJO_1301_21. NO ABSTRACT PMID:35791237 | PMC:PMC9426068 | DOI:10.4103/ijo.IJO_1301_21
Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision
Curr Diab Rep. 2022 Sep;22(9):423-432. doi: 10.1007/s11892-022-01483-y. Epub 2022 Jul 5. ABSTRACT PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: […]
Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer’s Disease and Wolfram Syndrome
Cells. 2022 Jun 18;11(12):1963. doi: 10.3390/cells11121963. ABSTRACT Calcium ions (Ca2+) operate as important messengers in the cell, indispensable for signaling the underlying numerous cellular processes in all of the cell types in the human body. In neurons, Ca2+ signaling is crucial for regulating synaptic transmission and for the processes of learning and memory formation. Hence, […]
Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes
AACE Clin Case Rep. 2022 Jan 12;8(3):128-130. doi: 10.1016/j.aace.2022.01.001. eCollection 2022 May-Jun. ABSTRACT OBJECTIVE: Early diagnosis of syndromic monogenic diabetes allows for proper management and can lead to improved quality of life in the long term. This report aimed to describe 2 genetically confirmed cases of Wolfram syndrome, a rare endoplasmic reticulum disorder characterized by […]
Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report
J Pediatr Endocrinol Metab. 2022 Sep 15;35(12):1552-1555. doi: 10.1515/jpem-2022-0268. Print 2022 Dec 16. ABSTRACT OBJECTIVES: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy […]
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings
Invest Ophthalmol Vis Sci. 2022 Sep 1;63(10):9. doi: 10.1167/iovs.63.10.9. ABSTRACT PURPOSE: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical and genetic features. METHODS: We recruited 24 unrelated patients with suspected WFS1 who carried at least one variant in WFS1. All patients underwent […]