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Deficient Mismatch Repair and BRAF Mutations in Metastatic Colorectal Cancer in the South Island of New Zealand.
Asia Pac J Clin Oncol
January 2025
Wellington Blood and Cancer Centre, Health New Zealand/Te Whatu Ora - Capital, Coast and Hutt Valley, Wellington, New Zealand.
Aim: Manatū Hauora, the Ministry of Health of New Zealand (NZ), published minimum standards for molecular testing of colorectal cancers (CRCs) in June 2018. These included mismatch repair (MMR) testing at diagnosis and BRAFV600E mutation analysis on newly diagnosed stage IV CRCs. This study aimed to determine the proportion of patients with CRC in the South Island of NZ with metastatic deficient mismatch repair (dMMR) CRC, the proportion of metastatic CRCs and dMMR CRCs that have a BRAFV600E mutation, and audit testing for BRAF mutations and appropriate referral to genetics services.
View Article and Find Full Text PDFDistribution and viability of ocular and non-ocular Chlamydia trachomatis in households in a trachoma-endemic community in Oromia, Ethiopia.
PLoS Negl Trop Dis
January 2025
International Centre for Eye Health, Clinical Research Department, London School of Hygiene & Tropical Medicine, London, United Kingdom.
Background: We aimed to determine the household distribution and viability of Chlamydia trachomatis (Ct) from the eyes, face, and hands during the initial two visits of a year-long fortnightly cohort study in geographically defined adjacent households.
Methods/findings: We enrolled 298 individuals from 68 neighbouring households in Shashemene Woreda, Oromia, Ethiopia. All individuals above 2 years of age residing in these households were examined for signs of trachoma.
Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS).
Eur J Neurol
January 2025
Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Sorbonne Université, Paris, France.
Background: Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described.
Objective: To report a newly acquired myopathy associated with MG.
Methods: Three adult patients with the same phenotype from two French referral centers were prospectively analyzed.
Chondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2).
Cureus
December 2024
Physical Medicine and Rehabilitation, Unidade Local de Saúde de Lisboa Ocidental, Lisbon, PRT.
Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging.
View Article and Find Full Text PDFMolecular Identification and Antifungal Susceptibility of Fusarium spp. Clinical Isolates.
Mycoses
January 2025
Clinical Microbiology Laboratory, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Background: Accurate identification of Fusarium species requires molecular identification. Treating fusariosis is challenging due to widespread antifungal resistance, high rates of treatment failure, and insufficient information relating antifungal susceptibility to the clinical outcome. Despite recent outbreaks in Mexico, there is limited information on epidemiology and antifungal susceptibility testing (AST).
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