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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFAsymptomatic lung abscess of aspergillus in a female without previous lung diseases or immunocompromise: a case report.
BMC Infect Dis
January 2025
Department of Respiratory and Critical Care Medicine, Beijing Youan Hospital, Capital Medical University, Beijing, 100069, China.
Background: Chronic pulmonary abscess usually results from bacterial or mycobacterium infection, but rarely from aspergillosis. Chronic pulmonary aspergillosis is usually found in a person with structural lung disease or immunocompromise. Here, we report a case of chronic lung abscess of aspergillosis without immunocompromise, structural lung diseases or even clinical symptoms.
View Article and Find Full Text PDFPLAC8 attenuates pulmonary fibrosis and inhibits apoptosis of alveolar epithelial cells via facilitating autophagy.
Commun Biol
January 2025
Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
Idiopathic pulmonary fibrosis (IPF) is an irreversible lung condition that progresses over time, which ultimately results in respiratory failure and mortality. In this study, we found that PLAC8 was downregulated in the lungs of IPF patients based on GEO data, in bleomycin (BLM)-induced lungs of mice, and in primary murine alveolar epithelial type II (pmATII) cells and human lung epithelial cell A549 cells. Overexpression of PLAC8 facilitated autophagy and inhibited apoptosis of pmATII cells and A549 cells in vitro.
View Article and Find Full Text PDFChanges in swallowing response on patients undergoing chemoradiotherapy for head and neck cancer.
Support Care Cancer
January 2025
Swallowing Center, Osaka University Hospital, 2-15, Yamadaoka, Suita City, Osaka, 565-0871, Japan.
Purpose: Chemoradiotherapy (CRT) for head and neck cancer (HNC) often causes dysphagia. The risk of dysphagia increases during CRT tends to become more severe after finishing CRT, and persists for a few weeks thereafter. Thus, understanding the changes in swallowing physiology during and immediately after CRT is essential.
View Article and Find Full Text PDFThe value of metagenomic next-generation sequencing in the diagnosis of fever of unknown origin.
Sci Rep
January 2025
Department of Clinical laboratory, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.17, YongWaiZheng Street, Nanchang, 330006, China.
Fever of unknown origin (FUO) caused by infection is a disease state characterized by complex pathogens and remains a diagnostic dilemma. Metagenomic next-generation sequencing (mNGS) technology is a promising diagnostic tool for identifying pathogenic microbes of FUO caused by infection. Little is known about the clinical impact of mNGS in the etiological diagnosis of FUO.
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