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
NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome
Mol Ther Methods Clin Dev. 2022 Oct 7;27:295-308. doi: 10.1016/j.omtm.2022.10.003. eCollection 2022 Dec 8. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) protein, Wolframin. We previously reported that Wolframin […]
Two cases of Wolfram syndrome
Zhonghua Yan Ke Za Zhi. 2022 Oct 11;58(10):799-802. doi: 10.3760/cma.j.cn112142-20220608-00287. ABSTRACT Two adolescents with T1DM participated in the Shanghai Children and Adolescent DM Eye study (SCADE) 2017-2018. The previous T1DM history of the 2 children were 12 years and 4 years respectively. The history of optic atrophy were 8 years and 4 years respectively. The […]
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome
JCI Insight. 2022 Sep 22;7(18):e156549. doi: 10.1172/jci.insight.156549. ABSTRACT Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Recent genetic and clinical findings have revealed Wolfram syndrome as a spectrum disorder. Therefore, a genotype-phenotype correlation analysis is needed […]
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 […]