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Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Ital J Pediatr
January 2025
Pediatrics Department, Genetics Unit, Mansoura University, Mansoura, Egypt.
Background: Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.
Methods: The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations.
Analysis of risk factors for acute cerebral infarction in patients with intracranial tuberculosis.
Front Neurol
January 2025
Department of Radiology, Hangzhou Red Cross Hospital, Hangzhou, China.
Objective: Acute cerebral infarction is a common complication of intracranial tuberculosis (TB), causing irreversible damage to brain tissue and significantly affecting patient prognosis. This study aims to explore the risk factors associated with acute cerebral infarction in patients with intracranial tuberculosis.
Methods: We retrospectively analyzed data from eligible intracranial TB patients treated at our hospital between January 2020 and March 2023.
Neratinib Efficacy in Patients With EGFR Exon 18-Mutant Non-Small-Cell Lung Cancer: Findings From the SUMMIT Basket Trial.
Clin Lung Cancer
December 2024
Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Medicine, Chicago, IL.
Background: Activating mutations in the epidermal growth factor receptor (EGFR) gene occur in 7% to 23% of patients with non-small-cell lung cancer (NSCLC). A small proportion of these (3-5%) are exon 18 mutations. Neratinib, an irreversible pan-HER tyrosine kinase inhibitor (TKI), had activity in the phase II SUMMIT basket study.
View Article and Find Full Text PDFPrevalence and determinants of restrictive lung disorder among quarry workers at the Umuoghara quarry site, Ebonyi State, Nigeria: a cross-sectional study.
BMC Pulm Med
January 2025
Institute of Public Health, University of Nigeria, Enugu, Nigeria.
Introduction: Respiratory disorders pose a serious health risk for quarry workers exposed to dust, as they are a leading source of morbidity and mortality globally, often resulting in irreversible lung conditions. This study assessed the prevalence and determinants of restrictive disorder among quarry workers in Umuoghara quarry site, Ebonyi State.
Methods: This study was done on quarry workers at the Umuoghara quarry site, Ebonyi State.
Experiences of Oral Corticosteroid Use and Adverse Effects: A National Cross-Sectional Survey of People with Asthma.
Patient Prefer Adherence
January 2025
Respiratory Research@Alfred, Monash University, Melbourne, VIC, Australia.
Purpose: Oral corticosteroids (OCS) are an effective treatment for severe uncontrolled asthma or asthma exacerbations, but frequent bursts or long-term use carry serious and sometimes irreversible adverse effects, or complications such as adrenal insufficiency upon discontinuation. Our aim was to survey people with asthma on their experiences of, and attitudes towards, using OCS.
Patients And Methods: This study was a national descriptive cross-sectional survey of people with asthma in Australia.
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