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 […]
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
Ophthalmic Genet. 2022 Sep 12:1-9. doi: 10.1080/13816810.2022.2113546. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic […]
Oxidative and endoplasmic reticulum stress develop adverse metabolic effects due to the high-fat high-fructose diet consumption from birth to young adulthood
Life Sci. 2022 Nov 15;309:120924. doi: 10.1016/j.lfs.2022.120924. Epub 2022 Sep 5. ABSTRACT AIMS: The early postnatal dietary intake has been considered a crucial factor affecting the offspring later life metabolic status. Consistently, this study investigated the oxidative and endoplasmic reticulum (ER) stress interventions in the induction of adverse metabolic effects due to the high-fat high-fructose […]
New International Guidelines and Consensus on the Use of Lung Ultrasound
J Ultrasound Med. 2023 Feb;42(2):309-344. doi: 10.1002/jum.16088. Epub 2022 Aug 22. ABSTRACT Following the innovations and new discoveries of the last 10 years in the field of lung ultrasound (LUS), a multidisciplinary panel of international LUS experts from six countries and from different fields (clinical and technical) reviewed and updated the original international consensus for […]
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 […]