Publications by authors named "Bouke Hazenberg"

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.*
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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.

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Background: 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).

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  • A systematic review analyzed studies on NfL levels in patients with systemic amyloidosis, including data from 1604 participants, revealing that higher NfL levels indicate the presence of polyneuropathy.
  • The findings suggest NfL can be useful for early detection, monitoring of disease progression, and evaluating treatment responses in systemic amyloidosis, though it shouldn't be used as a final outcome measure.
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Objective: To evaluate serum neurofilament light chain (sNfL) as biomarker of disease onset, progression and treatment effect in hereditary transthyretin (ATTRv) amyloidosis patients and variant (v) carriers.

Methods: sNfL levels were assessed longitudinally in persistently asymptomatic v carriers ( = 12), persistently asymptomatic ATTRv amyloidosis patients (defined as asymptomatic patients but with amyloid detectable in subcutaneous abdominal fat tissue) ( = 8), in v carriers who developed polyneuropathy ( = 7) and in ATTRv amyloidosis patients with polyneuropathy on treatment (TTR-stabiliser ( = 20) or TTR-silencer ( = 18)). Polyneuropathy was confirmed by nerve conduction studies or quantitative sensory testing.

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(1) Background: Individuals carrying a pathogenic transthyretin gene variant () are at high risk for developing hereditary transthyretin (ATTRv) amyloidosis and are routinely screened for the development of cardiomyopathy (ATTRv-CM). This study aims to evaluate whether the cardiac biomarkers N-terminal pro B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin T (hs-cTnT) can be used to rule out ATTRv-CM. (2) Methods: In this retrospective case-control study, data from 46 ATTRv-CM patients and 101 carriers and ATTRv amyloidosis patients without cardiomyopathy were included.

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AL amyloidosis is caused by the misfolding of immunoglobulin light chains leading to an impaired function of tissues and organs in which they accumulate. Due to the paucity of -omics profiles from undissected samples, few studies have addressed amyloid-related damage system wide. To fill this gap, we evaluated proteome changes in the abdominal subcutaneous adipose tissue of patients affected by the AL isotypes and λ.

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Systemic AA amyloidosis is a debilitating protein misfolding disease in humans and animals. In humans, it occurs in two variants that are called 'vascular' and 'glomerular', depending on the main amyloid deposition site in the kidneys. Using cryo electron microscopy, we here show the amyloid fibril structure underlying the vascular disease variant.

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Article Synopsis
  • - A precise diagnosis of amyloidosis typically requires a tissue biopsy to identify the disease accurately.
  • - With more specific treatments available for various types of amyloid diseases, it's crucial to determine the exact type of amyloid present.
  • - The paper outlines different biopsy techniques and amyloid typing methods used by specialized laboratories across Europe, Japan, and the USA.
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Several studies recently showed that fibrils from patient or animal tissue were structurally different from formed fibrils from the same polypeptide chain. Analysis of serum amyloid A (SAA) and Aβ-derived amyloid fibrils additionally revealed that fibrils were more protease stable than fibrils. These observations gave rise to the proteolytic selection hypothesis that suggested that disease-associated amyloid fibrils were selected inside the body by their ability to resist endogenous clearance mechanisms.

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Heart failure with preserved ejection fraction (HFpEF) comprises half of the heart failure population. A specific, but underdiagnosed, cause for HFpEF is transthyretin-derived (ATTR) amyloidosis. This article reviews the clinical characteristics of cardiac ATTR amyloidosis.

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Objective: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.

Methods: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin ( gene mutation carriers (v carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and v carriers (HC/v).

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We describe three cases, two 70-year-old males with mainly cardiac symptoms and a 34-year-old male with gastro-intestinal and neurologic symptoms. Each patient was shown to have a distinctive type of transthyretin-mediated amyloidosis (ATTR). ATTR amyloidosis is a life-threatening disease characterised by the extracellular deposition of pathogenic transthyretin (TTR).

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To study the outcome of patients with AL amyloidosis who were ineligible for high dose melphalan (HDM) and autologous stem cell transplantation (ASCT). A real-life retrospective observational cohort study of Dutch patients with AL amyloidosis ineligible for HDM and ASCT was performed at the University Medical Center Groningen from January 2001 until April 2017. Primary outcome measure was overall survival (OS).

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