Publications by authors named "H L A Nienhuis"
Article Synopsis
- Enzyme replacement therapy (ERT) with velmanase alfa demonstrated effectiveness and safety for up to 12 years in patients with alpha-mannosidosis based on a pooled analysis from two multicenter trials.
- In pediatric patients, improvements in six-minute walk test (6MWT) and stair climb test (3MSCT) were observed, while adult patients showed stabilization or slight decline in performance.
- The treatment resulted in sustained clearance of serum oligosaccharides and increased serum immunoglobulin G (IgG) levels, with most adverse events being mild to moderate in severity, indicating that velmanase alfa is generally well-tolerated.
Aims: Wild-type transthyretin cardiac amyloidosis (ATTRwt-CM) is an under-recognized aetiology of heart failure (HF), necessitating early detection for timely treatment. Our study aimed to differentiate patients with ATTRwt-CM from ATTRwt-negative HFpEF/HFmrEF patients by identifying and validating circulating protein biomarkers. In addition, we measured the same biomarkers in patients with cardiomyopathy due to light chain amyloidosis (AL)-CM to gain disease-specific insights.
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- The study aims to evaluate how effective liver stiffness measurements are in detecting liver involvement in patients with AL amyloidosis.
- Researchers measured liver stiffness using transient elastography in 71 AL amyloidosis patients and 18 with ATTRwt amyloidosis, using alternative methods to liver biopsy for diagnosing liver issues.
- Results showed that higher liver stiffness correlates with liver involvement in AL amyloidosis, suggesting it could be a useful diagnostic tool for assessing liver conditions in these patients.*
[Tc]Tc-hydroxydiphosphonate uptake in soft tissue is associated with amyloid load in subcutaneous abdominal fat tissue and mortality in wild-type transthyretin amyloidosis patients.
Eur J Nucl Med Mol Imaging
December 2024
Purpose: Bone scintigraphy is key to non-invasively diagnosing wild-type transthyretin (ATTRwt) amyloidosis, and is mainly used to assess cardiac radiotracer uptake. However, extracardiac radiotracer uptake is also observed. We investigated whether intensity of soft tissue radiotracer uptake is associated with amyloid load in subcutaneous abdominal fat tissue and with mortality.
View Article and Find Full Text PDFBackground: Reliable typing of amyloid is essential. Amyloid extraction from tissue enables immunochemical typing of the precursor protein using an enzyme-linked immunosorbent assay (ELISA).
Objective: To assess the diagnostic accuracy of a panel of ELISAs for typing the four main types (AA, ATTR, AL-kappa and AL-lambda amyloid).