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Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFTransthyretin variants impact blood-nerve barrier and neuroinflammation in amyloidotic neuropathy.
Brain
January 2025
Department of Neurology, National Taiwan University Hospital, Taipei, 100225, Taiwan.
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a neurodegenerative disease caused by mutations in the gene encoding transthyretin (TTR). Despite amyloid deposition being pathognomonic for diagnosis, this pathology in nervous tissues cannot fully account for nerve degeneration, implying additional pathophysiology for neurodegeneration, which, however, has not yet been fully elucidated. In this study, neuroinflammation in ATTRv-PN was investigated by examining nerve morphometry, the blood-nerve barrier, and macrophage infiltration in the sural nerves of ATTRv-PN patients and the sciatic nerves of a complementary mouse system, i.
View Article and Find Full Text PDFGuillain-Barré syndrome in patients with multiple myeloma: three cases report and literature review.
BMC Neurol
January 2025
Department of Hematology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Background: Multiple myeloma (MM) with Guillain-Barré syndrome (GBS) is relatively rare, and the specific mechanism is still unclear. The previous infection, surgery, and medication use may have contributed to the occurrence of GBS. The use of bortezomib in patients with MM can easily lead to peripheral neuropathy, which is similar to the symptoms of GBS, making it challenging to diagnose GBS.
View Article and Find Full Text PDFChronic Microvascular Complications in Sulfonylureas-Treated Diabetic Patients: Correlations with Glycemic Control, Risk Factors and Duration of the Disease.
Clin Pract
December 2024
Research Centre in the Medical-Pharmaceutical Field, Faculty of Medicine and Pharmacy, "Dunarea de Jos" University of Galati, 800008 Galati, Romania.
: Diabetes has become one of the most challenging public health problems due to the alarming increase in prevalence and the morbidity and mortality attributed to its acute and chronic complications. This study aimed to investigate the development of chronic microvascular complications in sulfonylureas-treated diabetic patients and their correlations with glycemic control, risk factors and duration of the disease. : This study included 200 patients that presented to "Providența" Medical Center, Iași.
View Article and Find Full Text PDFGenetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Pediatr Neurol
December 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Article Synopsis
- SCAN1 is an ultrarare neurodegenerative disorder characterized by progressive ataxia and axonal polyneuropathy, primarily caused by a mutation in the TDP1 gene.
- The study presents the first Iranian family diagnosed with SCAN1 carrying the c.1478A>G variant and includes a systematic review that identifies additional disease-related variants in TDP1 across different families.
- Findings indicate that despite sharing the same genetic variant, affected families exhibit clinical variability, suggesting a potential founder mutation in the Middle East and highlighting the need for further research into SCAN1.
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