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| http://dx.doi.org/10.5144/0256-4947.2004.476 | DOI Listing |
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Cervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, University of Miami Miller School of Medicine, 1095 NW 14 Terrace, Miami, FL, 33136, USA.
Wolcott-Rallison Syndrome is an extremely rare syndrome characterized by infantile non-autoimmune diabetes, extensive skeletal dysplasia, and multi-organ failure requiring transplant. Prognosis is very poor, and as such, surgical intervention for symptomatic cervical spine compromise in pediatric patients has not been widely reported in part due to their high fragility. We report a complex case of Wolcott-Rallison Syndrome that presented with cervical myelopathy due to cervicomedullary compression and the exceptional surgical considerations required for successful intervention.
View Article and Find Full Text PDFRecurrent Liver Failure Due to Wolcott Rallison Syndrome.
Indian J Pediatr
November 2024
Division of Pediatric Gastroenterology and Hepatology, Department of Gastroenterology, Apollo BGS Hospitals, Mysore, India.
Developmental diseases are challenging to investigate due to their clinical heterogeneity and relatively low prevalence. The Wolcott-Rallison Syndrome (WRS) is a rare developmental disease characterized by skeletal dysplasia and permanent neonatal diabetes due to loss-of-function mutations in the endoplasmic reticulum stress kinase PERK (EIF2AK3). The lack of efficient and less invasive therapies for WRS highlights the need for new animal models that replicate the complex pathological phenotypes, while preserving scalability for drug screening.
View Article and Find Full Text PDFEIF2AK3, also known as PERK, plays a pivotal role in cellular proteostasis, orchestrating the Unfolded Protein Response (UPR) and Integrated Stress Response (ISR) pathways. In addition to its central position in intracellular stress regulation, human GWAS identify EIF2AK3 as a risk factor in tauopathies, neurodegenerative diseases caused by aberrant tau protein accumulation. Guided by these genomic indicators, our investigation systematically analyzed human PERK variants, focusing on those with potential tauopathy linkages.
View Article and Find Full Text PDFNatural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.
Liver Int
March 2024
Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Article Synopsis
- Wolcott-Rallison syndrome is a rare genetic disorder characterized by neonatal diabetes and various health complications, including liver impairment and growth issues, with a significant impact on patient survival rates.
- A review of 62 studies involving 159 patients revealed a median age of presentation at 2.5 months and an average age of death at 36 months, with liver failure being a primary cause of mortality in some cases.
- Transplantation, especially liver or multi-organ transplants, notably improves survival outcomes, with better prognosis linked to specific genetic mutations (missense mutations).
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