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Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.
BMJ Case Rep
December 2024
Lungemedicinsk, Vejle Sygehus, Vejle, Denmark.
Alkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation of symptoms and the diagnosis with his monozygotic twin brother. The symptoms include early-onset arthropathy, tendinopathy, osteopenia, discolouration of the auricular regions and fingers, scleral discolouration, secondary glaucoma, proteinuria, calcification of the mitral valve and black urethral and prostate stones.
View Article and Find Full Text PDFEffectiveness of selective NaV1.7 blocker PF-05089771 in reducing cough associated with allergic rhinitis in guinea pigs.
Respir Physiol Neurobiol
December 2024
Department of Pathophysiology Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovakia. Electronic address:
Background: Allergic rhinitis (AR) is a common cause of chronic cough, linked to dysregulated airway C- and Aδ-fibres through inflammatory mediators. Despite the limited efficacy of current antitussive therapies, recent studies show that the Na1.7 inhibitor can block cough in naïve guinea pigs.
View Article and Find Full Text PDF[Value of exercise challenge testing in the diagnosis of cough variant asthma in children].
Zhongguo Dang Dai Er Ke Za Zhi
December 2024
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China.
Objectives: To investigate the value of exercise challenge testing (ECT) in the diagnosis of cough variant asthma (CVA) in children.
Methods: A prospective study was conducted on 78 children with chronic cough who were admitted between January 2023 and January 2024. ECT was performed, and clinical data were collected.
Beyond The Basics: Unveiling Superior Vena Cava Compression in Hodgkin's Lymphoma.
Cureus
November 2024
Internal Medicine/Pulmonary Critical Care, Appalachian Regional Healthcare, Harlan, USA.
Hodgkin's lymphoma (HL) is a malignancy of the lymphocytes in the lymph nodes and presents with non-specific systemic symptoms like fever, night sweats, and weight loss. While HL often involves the mediastinum, it rarely causes superior vena cava (SVC) syndrome, and eosinophilia is noted in approximately 15% of cases. Here, we report a unique presentation of HL in a 52-year-old male with a history of chronic pruritus, chronic kidney disease, and inactive hepatitis B.
View Article and Find Full Text PDFEndobronchial actinomycosis with broncholithiasis presenting with hemoptysis-A case report.
J Family Med Prim Care
November 2024
Department of Pulmonary Medicine, RajaRajeswari Medical College and Hospital, Bengaluru, Karnataka, India.
Article Synopsis
- Pulmonary actinomycosis is a rare lung infection caused by the bacterium Actinomyces and is often misdiagnosed as pulmonary tuberculosis or lung cancer due to its uncommon pulmonary presence.
- Endobronchial actinomycosis, where the infection occurs in the bronchial tubes, is very rare, and there have been instances of broncholithiasis (calcium stones in the bronchial tubes) linked to it.
- A case study of a 50-year-old male presenting with cough and hemoptysis (coughing up blood) revealed he had endobronchial actinomycosis with broncholithiasis, confirmed through a transbronchial biopsy.
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