Publications by authors named "Tim Lavin"
Article Synopsis
- New diagnostic criteria for NF2-related schwannomatosis were established in 2022, leading to an updated prevalence study in the UK, which focused on the rate of de novo NF2 cases.
- A total of 1,084 living NF2 patients were identified, indicating a prevalence of 1 in 61,332, with a striking 72% of cases being de novo, many of which were mosaic.
- The findings also revealed that nonsense variants were most common (24.8%), while missense variants had a higher familial association (56%), emphasizing the importance of patient databases for accurate genetic counseling.
Rasch-built overall disability scale for POEMS syndrome (POEMS-RODS).
J Peripher Nerv Syst
December 2022
Article Synopsis
- Patient-reported outcome measures can effectively gauge disease severity and are meaningful for patients' lives, particularly in complex disorders like POEMS, which affects multiple body systems and causes disabling neuropathy.
- The research introduces a new scale, the Rasch-built Overall Disability Scale (POEMS-RODS), specifically designed for POEMS, created from a preliminary questionnaire which underwent thorough testing and refinement.
- The final version of the POEMS-RODS includes 23 relevant items that show reliable results, but further international studies are needed to verify its effectiveness and adaptability in different populations.
Article Synopsis
- In clinical neurology, effective serological biomarkers for assessing the peripheral nervous system are limited, leading to reliance on alternative diagnostic methods.
- Accurate understanding and application of these biomarkers are crucial to prevent misdiagnosis and ensure timely treatment adjustments.
- The text explores the benefits and drawbacks of existing biomarkers and suggests potential advancements for future use.
Article Synopsis
- The study focuses on switching patients with inflammatory neuropathies from intravenous immunoglobulin (IVIg) to subcutaneous immunoglobulin (SCIg), assessing the effectiveness of dosing strategies.* -
- A total of 44 out of 56 patients maintained their SCIg treatment for an average of 3.3 years with stable clinical outcomes; however, some needed dose adjustments over time for better management.* -
- The findings suggest that adjusting doses based on patient response is a viable method for maintaining effective SCIg therapy, although some patients reverted back to IVIg due to relapses or personal choice.*
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease.
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- This study investigated the potential link between COVID-19 and Guillain-Barré syndrome (GBS) by analyzing GBS cases in the UK before and during the COVID-19 pandemic.
- The researchers found that GBS incidence decreased during the pandemic and did not show a correlation with COVID-19 infection rates across different regions.
- Although some GBS cases were associated with COVID-19, there were no significant differences in clinical features between COVID-19 positive and negative cases, suggesting no strong evidence linking the virus as a cause of GBS.
Aim: Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome is a rare condition with an estimated prevalence rate of 0.3 per 100,000 people. Patient perspectives on healthcare experiences and quality of life have not yet been studied in depth.
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