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The value of local validation of a predictive model. A nomogram for predicting failure of non-invasive ventilation in patients with SARS-COV-2 pneumonia.
Med Intensiva (Engl Ed)
January 2025
Intensive Care Unit, Hospital Universitario Doctor Peset, Av Gaspar Aguilar 90, 46017 Valencia, Spain.
Objective: We aimed to determine predictors of non-invasive ventilation (NIV) failure and validate a nomogram to identify patients at risk of NIV failure.
Design: Observational, analytical study of a retrospective cohort from a single center, compared with an external cohort (March 2020 to August 2021).
Setting: Two intensive care units (ICUs).
Vaping: A Safe Alternative to Counteract Smoking? Case Report.
Clin Med Insights Case Rep
January 2025
Pneumology Department, Fundación Santa Fe de Bogotá, Bogotá, Colombia.
The respiratory impact of e-cigarette usage, also known as vaping, emerged as a significant healthcare issue in 2019. This concern arose due to the sharp rise in cases of e-cigarette or vaping-associated lung injury (EVALI) among adolescents and young adults. Now, systemic manifestations have been described.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFBackground: Group B streptococcus (GBS) causes neonatal invasive disease, mainly sepsis and meningitis. Understanding the clinical characteristics, laboratory tests, and antibiotic resistance patterns of GBS invasive infections provides reliable epidemiological data for preventing and treating GBS infections.
Methods: Clinical characteristics and laboratory test results from 86 patients with neonatal invasive disease (45 cases of early-onset disease [EOD] and 41 cases of late-onset disease [LOD]) recruited from Fujian Maternity and Child Health Hospital between January 2012 and December 2021 were analyzed.
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