Beyond Vision and Hearing: A Case Report of Wolfram Syndrome DOI Open Access

U Jeyapriya,

Jennie Santhanam,

Ramachandran Rm

et al.

Cureus, Journal Year: 2024, Volume and Issue: unknown

Published: July 22, 2024

Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, urinary tract disorders that make management more challenging. Here, we present 22-year-old male who was diagnosed with type 1 at the age 4 received treatment basal-bolus insulin therapy. He had blurring vision loss 13 years age, our evaluation revealed atrophy sensorineural loss. polydipsia polyuria (intake/output 5-6 L/day) despite fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) done, which confirmed diagnosis central insipidus. His sonogram flow studies bilateral hydroureteronephrosis reflux uropathy. We him neurogenic bladder detrusor sphincter dyssynergia. This patient early onset urological involvement eyes ears, mellitus satisfied criteria WFS. The genetic test diagnosis. currently being managed desmopressin.

Language: Английский

The crosstalk between metabolism and translation DOI
Stefano Biffo, Davide Ruggero, Massimo Santoro

et al.

Cell Metabolism, Journal Year: 2024, Volume and Issue: 36(9), P. 1945 - 1962

Published: Sept. 1, 2024

Language: Английский

Citations

12
A Compound Screen Based on Isogenic hESC‐Derived β Cell Reveals an Inhibitor Targeting ZnT8‐Mediated Zinc Transportation to Protect Pancreatic β Cell from Stress‐Induced Cell Death DOI Creative Commons
Rui Hu, Qing Ma, Yunhui Kong

et al.

Advanced Science, Journal Year: 2025, Volume and Issue: unknown

Published: April 7, 2025

Abstract Pancreatic β cell loss by cellular stress contributes to diabetes pathogenesis. Nevertheless, the fundamental mechanism of regulation remains elusive. Here, it is found that elevated zinc transportation causes excessive in pancreatic cells diabetes. With gene‐edited human embryonic stem cell‐derived (SC‐β cells) and primary islets, results reveal initiates integrated response (ISR), ultimately leads death. By contrary, genetic abolishment shields from exacerbated endoplasmic reticulum (ER stress) concurrent ISR. To target with a chemical inhibitor, an isogenic SC‐β based drug‐screening platform established. Surprisingly, independent its traditional role as protein synthesis inhibitor at high‐dose (10 µ m ), low‐dose (25 n ) anisomycin significantly inhibits effectively prevents loss. Remarkably, vivo administration mice demonstrates protective effects on type 2 induced high‐fat diet. Overall, identified crucial driver potential therapeutic molecule for

Language: Английский

Citations

0
Recent progress in modeling and treating diabetes using stem cell-derived islets DOI Creative Commons

Marlie M. Maestas,

Maggie H Bui,

Jeffrey R. Millman

et al.

Stem Cells Translational Medicine, Journal Year: 2024, Volume and Issue: 13(10), P. 949 - 958

Published: Aug. 19, 2024

Abstract Stem cell-derived islets (SC-islets) offer the potential to be an unlimited source of cells for disease modeling and treatment diabetes. SC-islets can genetically modified, treated with chemical compounds, or differentiated from patient derived stem model These models provide insights into pathogenesis vulnerabilities that may targeted treatment. themselves are also being investigated as a cell therapy However, transplantation process is imperfect; side effects immunosuppressant use have reduced SC-islet therapeutic potential. Alternative methods this include encapsulation, immunomodulating molecules, genetic modification SC-islets. This review covers recent advances using understand different diabetes pathologies therapy.

Language: Английский

Citations

2
Beyond Vision and Hearing: A Case Report of Wolfram Syndrome DOI Open Access

U Jeyapriya,

Jennie Santhanam,

Ramachandran Rm

et al.

Cureus, Journal Year: 2024, Volume and Issue: unknown

Published: July 22, 2024

Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, urinary tract disorders that make management more challenging. Here, we present 22-year-old male who was diagnosed with type 1 at the age 4 received treatment basal-bolus insulin therapy. He had blurring vision loss 13 years age, our evaluation revealed atrophy sensorineural loss. polydipsia polyuria (intake/output 5-6 L/day) despite fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) done, which confirmed diagnosis central insipidus. His sonogram flow studies bilateral hydroureteronephrosis reflux uropathy. We him neurogenic bladder detrusor sphincter dyssynergia. This patient early onset urological involvement eyes ears, mellitus satisfied criteria WFS. The genetic test diagnosis. currently being managed desmopressin.

Language: Английский

Citations

0