Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
BMB Rep. 2024 Apr 17:6179. Online ahead of print. ABSTRACT In the context of aging, the susceptibility to infectious diseases increases, leading to heightened morbidity and mortality. This phenomenon, termed immunosenescence, is characterized by dysregulation in the aging immune system, including abnormal alterations in lymphocyte composition, elevated basal inflammation, and the accumulation of senescent T […]
Editorial: Stars and rising stars in pediatric endocrinology: 2022
Front Endocrinol (Lausanne). 2024 Mar 18;15:1384549. doi: 10.3389/fendo.2024.1384549. eCollection 2024. NO ABSTRACT PMID:38562411 | PMC:PMC10982425 | DOI:10.3389/fendo.2024.1384549
Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1
J Clin Med. 2024 Mar 21;13(6):1803. doi: 10.3390/jcm13061803. ABSTRACT Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been […]
A Wolfram-like syndrome family: Case report
Eur J Ophthalmol. 2024 Mar 12:11206721241237552. doi: 10.1177/11206721241237552. Online ahead of print. ABSTRACT BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome. CASE PRESENTATION: We reported a case of a 10-year-old boy and […]
Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
J Pediatr Endocrinol Metab. 2024 Mar 12. doi: 10.1515/jpem-2023-0531. Online ahead of print. ABSTRACT OBJECTIVES: Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End […]
An adolescent with Wolfram syndrome and central sleep apnea
J Clin Sleep Med. 2024 Mar 7. doi: 10.5664/jcsm.11110. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive disorder affecting approximately 1:500,000 individuals. The disorder is most commonly caused by mutations in the WFS1 gene, which encodes an endoplasmic reticulum (ER) protein, wolframin, which is thought to protect against ER stress-related […]
Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments
Mamm Genome. 2024 Feb 13. doi: 10.1007/s00335-023-10028-x. Online ahead of print. ABSTRACT Wolfram syndrome (OMIM 222300) is a rare autosomal recessive disease with a devastating array of symptoms, including diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss, and neurological dysfunction. The discovery of the causative gene, WFS1, has propelled research on this disease. However, […]
ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models
Cell Death Differ. 2024 Feb 6. doi: 10.1038/s41418-024-01258-w. Online ahead of print. ABSTRACT Pancreatic β-cell failure by WFS1 deficiency is manifested in individuals with wolfram syndrome (WS). The lack of a suitable human model in WS has impeded progress in the development of new treatments. Here, human pluripotent stem cell derived pancreatic islets (SC-islets) harboring […]
Wolfram-like syndrome: a case report
Zhonghua Yan Ke Za Zhi. 2024 Feb 11;60(2):180-184. doi: 10.3760/cma.j.cn112142-20231213-00288. ABSTRACT Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene. In this case, a 7-year-old male child presented to the eye clinic due to vision loss that could not be corrected, […]
Neuroimaging features in Wolfram syndrome type 1
Neurol Sci. 2024 Jan 31. doi: 10.1007/s10072-024-07352-8. Online ahead of print. ABSTRACT Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features […]