Objective: Genomic risk stratification methods for myeloid malignancies have moved beyond conventional karyotyping and single gene approaches to better define disease behaviour. Next-generation sequencing has been established as the new standard-of-care tool to accurately define prognosis at diagnosis and guide therapy decisions. We aimed to determine the economic value of a 37-gene panel test for informing subsequent care for patients with intermediate-risk myeloid malignancies.
Method: We performed an exploratory cost-utility analysis of a 37-gene panel test to inform stem cell transplantation therapy in patients with myeloid malignancies in Queensland, Australia. Clinician surveys provided data on management choice with and without genomics information while both published and individual-level data were used for healthcare costs, quality of life, relapse rates and survival data. We used a decision-analytic cohort model with Markov chains and 5000 simulations to derive the incremental cost per quality-adjusted life year (QALY) gained. Scenario, one-way and probabilistic sensitivity analyses were undertaken to test input variation on the stability of the main findings.
Results: Over 10 years, the model predicted mean costs of AU$125,561 for the panel testing strategy and AU$117,045 for usual care, indicating an incremental cost of AU$8516 for panel testing. The corresponding mean QALYs were 4.52 for panel testing and 4.46 for usual care, producing a cost of AU$153,854 per QALY gained. In the Australian system, the likelihood that panel testing would be cost effective was <1 % and would have a more favourable cost-effective profile at a willingness-to-pay of AU$140,000 per QALY gained.
Conclusions: Driven by small gains in survival and relapse rates following therapies, genomic panel sequencing for myeloid malignancies in people with intermediate-risk disease is unlikely to be cost effective in Australia.
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http://dx.doi.org/10.1007/s40258-024-00927-8 | DOI Listing |
World J Pediatr
January 2025
The First Hospital of Peking University, Beijing, China.
Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.
View Article and Find Full Text PDFPsicol Reflex Crit
January 2025
Departamento de Psicología. Facultad de Educación, Ciencias Sociales y Humanidades, Universidad de La Frontera, Temuco, Chile.
Background: Social support is relevant to studying well-being, quality of life, and health during aging, particularly in people over 50. Therefore, brief instruments that allow its measurement within the clinical evaluation and research processes are necessary. The ENRICH Social Support Scale (ESSI) is a brief and easy-to-use instrument that measures the perception of social support; however, its psychometric properties in people over 50 in the Chilean context have yet to be tested.
View Article and Find Full Text PDFJ Clin Microbiol
December 2024
Chrono-environnement UMR6249, CNRS, University of Franche-Comté, Besançon, Bourgogne-Franche-Comté, France.
Unlabelled: The aim of this study was to identify parameters influencing DNA extraction and PCR amplification efficiencies in an attempt to standardize Mucorales qPCR. The Fungal PCR Initiative Mucorales Laboratory Working Group distributed two panels of simulated samples to 26 laboratories: Panel A (six sera spiked with Mucorales DNA and one negative control serum) and Panel B (six Mucorales DNA extracts). Panel A underwent DNA extraction in each laboratory according to the local procedure and were sent to a central laboratory for testing using three different qPCR techniques: one in-house qPCR assay and two commercial assays (MucorGenius and Fungiplex).
View Article and Find Full Text PDFJ Clin Microbiol
December 2024
Clinical Microbiology, University of Catania, Catania, Italy.
Unlabelled: The performance of the Liofilchem Compact Antimicrobial Susceptibility Panel (ComASP) Cefiderocol was evaluated in a multicenter study. Enterobacterales, , and clinical isolates and challenge isolates were tested by three and one sites, respectively. Minimum inhibitory concentration (MIC) testing was performed by the Clinical and Laboratory Standards Institute (CLSI) broth microdilution and ComASP, which included two reading endpoints (CLSI read; MIC is the first well in which reduction of growth is <1 mm or light haze/faint turbidity] and ComASP [ComASP read; MIC is the first well at which 100% inhibition of growth occurs]).
View Article and Find Full Text PDFMikrobiyol Bul
October 2024
University of Health Sciences, Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital, Clinic of Pediatric Infectious Diseases, İzmir, Türkiye.
Central nervous system infections (CNS) are life-threatening infections in children, requiring urgent intervention and rapid diagnosis. In this study, we aimed to investigate the efficacy of syndromic tests in diagnosing CNS infections and the distribution of viral pathogens in pediatric patients. A total of 145 pediatric patients with a prediagnosis of CNS infection based on clinical findings by a pediatric infectious disease specialist were included in the study.
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