Publications by authors named "Florkowski C"

Aims: Point-of-care (POC) high-sensitivity troponin (hs-cTn) assays within a clinical pathway may safely reduce length of stay (LoS) for patients presenting to the emergency department (ED) with possible acute myocardial infarction (AMI). In this early report, we present the first evaluation of a POC hs-cTn in real-life care.

Methods And Results: In adult patients presenting to ED investigated for possible AMI, we compared the LoS in patients assessed with a troponin in the 8 weeks before (usual-care phase) and the 8 weeks following introduction of the Siemens Atellica VTLi POC hs-cTnI for decision-making (intervention phase).

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Article Synopsis
  • Primary aldosteronism (PA) is a significant cause of hypertension, and familial hyperaldosteronism type 1 (FH-1) is a hereditary form that can lead to severe health issues, making early detection important.
  • A study analyzed genetic testing data for FH-1 in New Zealand from April 2010 to October 2023, revealing that only 147 tests were conducted, with a positive result in 12.9% of cases and significant variations in testing rates by region.
  • Although testing rates for FH-1 have increased over the years, they are still considered low, indicating a need for more awareness and testing, especially for individuals diagnosed with PA at a young age or those with a family
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Objectives: The Siemens Point-of-Care Testing (POC) Atellica VTLi high-sensitivity troponin I (hsTnI) device has been previously validated. Verification independently provides evidence that an analytical procedure fulfils concordance with laboratory assays, imprecision, and hemolysis interference requirements.

Methods: Five whole blood samples spanning the measuring interval were analysed 20 times in succession.

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  • Familial hypercholesterolaemia (FH) variants are linked to more than double the cardiovascular risk compared to controls with similar LDL-C levels, making improved detection methods important.
  • In a study of 213 subjects, 14.6% had pathogenic FH variants, and those with variants were generally younger and had higher LDL-C levels and more family members with elevated cholesterol.
  • The Besseling model for detecting FH variants showed better discrimination than traditional methods, while established criteria like the Dutch Lipid Clinic Network Score did not significantly improve FH detection.
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Due to increased convenience and faster test results, interest in point-of-care testing (PoCT) has grown significantly. Though PoCT may improve the speed and convenience of testing, the devices need to be fit for their intended purpose. Our aim was to verify the performance of Roche cobas b 101 and Abbott Afinion 2 for C-reactive protein (CRP), lipid studies and glycated haemoglobin (HbA1c), and Siemens Atellica DCA for HbA1c.

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Background: Urine metanephrines are used to screen for phaeochromocytoma or paraganglioma (PPGL). Current reference intervals (RI) derived in healthy individuals are not age or sex-stratified, and lower than in hypertensive patients, leading to high false positive rates. This study aims to determine age and sex-stratified RI from a contingent screening population.

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An 81-year-old man was admitted to hospital with symptomatic coronavirus disease (COVID-19) infection. He had a background of progressive chronic inflammatory demyelinating polyneuropathy associated with Waldenstrom's macroglobulinaemia. His plasma creatinine on four separate samples was inconceivably low (all ≤13 μmol/L), as measured by a Beckman Coulter enzymatic assay) after being 72 μmol/L 3 months earlier.

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Background: Internationally, placental growth factor (PlGF)-based tests are used as prognostic markers in suspected preeclampsia. However, Ministry of Health guidelines do not currently endorse PlGF-based tests in New Zealand (NZ).

Aims: To investigate the predictive value of soluble fms-like tyrosine kinase 1 (sFlt-1)/PlGF ratio in suspected preeclampsia in a NZ population.

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Objectives: To describe a novel β-globin variant that interferes with HbA1c analysis by cation exchange HPLC.

Design And Methods: Diabetes screening by HbA1c measurement was assessed using cation exchange HPLC and an immunoassay point-of-care analyzer. Routine hemoglobinopathy screening was performed including CBC, HbF and HbA measurement by cation exchange HPLC and capillary electrophoresis (CE).

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  • - Hereditary coproporphyria (HCP) is a rare genetic condition with a low incidence and typically mild symptoms, but a family study revealed higher penetrance and severity, with 57-71% of family members showing symptoms.
  • - Some affected individuals experienced severe complications, including life-threatening issues and opioid dependence, which complicates treatment options.
  • - The case study explores new treatments, including an mRNA interference drug called givosiran, ketamine for acute attacks, and innovative embryo selection techniques, emphasizing the need for international registries to improve understanding and management of HCP.
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Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of children with severe progressive neurological disease and in three adult siblings with a more slowly, progressive neurological disease and distinct leukoencephalopathy. We report three further adult individuals who share a distinct pattern of white matter abnormality on brain MRI in association with biallelic variants in HMBS, two individuals with homozygous variants, and one with compound-heterozygous variants.

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The COVID-19 pandemic raised major concerns relating to hospital capacity and cross-infection patients and staff in the Emergency Department (ED) of a metropolitan hospital servicing a population of ~500,000. We determined to reduce length of stay and admissions in patients presenting with symptoms of possible myocardial infarction; the most common presentation group. After establishing stakeholder consensus, the existing accelerated diagnostic pathway (ADP) based on the ED Assessment of Chest-pain Score (EDACS), electrocardiogram, and troponin measurements with a high-sensitivity assay (hs-cTn) on presentation and two hours later (EDACS-ADP) was modified to stream patients following an initial troponin measure as follows: (i) to a very-low risk group who could be discharged home without follow-up or further testing, and (ii) to a low-risk group who could be discharged with next-day follow-up community troponin testing.

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Introduction: Severe familial hypercholesterolaemia (FH) causes premature disability and death due to atherosclerotic cardiovascular disease and is refractory to standard lipid-lowering therapies. Lipoprotein apheresis (LA) has long been a standard of care for patients with severe FH, but is invasive, expensive and time-consuming for patients and their caregivers. Newer drug therapies, including the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, may reduce the need for LA.

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Objectives: Supplementation provides the best means of improving vitamin D status; however, individual responses vary partly owing to genetics. The aim of this study was to determine whether 28 single nucleotide polymorphisms (SNPs) in six key vitamin D pathway genes (GC, DHCR7, CYP2 R1, CYP24 A1, CYP27 B1, VDR) were associated with differences in response to supplementation.

Methods: Participants (N = 313; n = 160 vitamin D, n = 153 placebo) were part of VIDARIS (Vitamin D and Acute Respiratory Infections Study), a double-blind, randomized controlled trial involving oral monthly supplementation of either vitamin D (200 000 IU each for the first 2 mo, thereafter 100 000 IU monthly) or placebo for 18 mo.

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