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Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease that causes recurrent neuritis and myelitis. Ravulizumab, a complement protein C5 inhibitor, was developed to treat NMOSD. However, its efficacy in improving symptoms remains unclear.
View Article and Find Full Text PDFUnraveling the uncommon: Pneumoperitoneum induced by emphysematous pyelonephritis.
Radiol Case Rep
March 2025
Emergency Radiology Department, Ibn Sina University Hospital, Faculty of Medicine and Pharmacy of Rabat, Mohamed V University, Rabat, Morocco.
Emphysematous pyelonephritis is a necrotizing infection of the renal parenchyma by gas-forming organisms, with a risk of the gas extending into peri-nephric or para-renal spaces and in advanced cases, the involvement may be extensive and bilateral. It is a common complication in patients with long-term diabetes, primarily caused by Gram-negative organisms or, in some cases, anaerobes. The diagnosis of emphysematous pyelonephritis is made by clinical features and confirmed by computed tomography.
View Article and Find Full Text PDFNutcracker Syndrome: A Rare Cause of Hematuria.
Cureus
December 2024
Internal Medicine, Pedro Hispano Hospital, Matosinhos, PRT.
Nutcracker syndrome (NCS) is an uncommon vascular condition caused by the compression of the left renal vein (LRN), which may result in venous hypertension and clinical symptoms, including hematuria, flank pain, and pelvic congestion. This report describes the case of a 30-year-old woman with recurrent painless macroscopic hematuria, ultimately diagnosed with NCS based on clinical and radiological findings. Computed tomography (CT) angiography revealed a reduced aortomesenteric angle and LRN compression without signs of severe venous hypertension or collateral circulation.
View Article and Find Full Text PDFWhen the heart deceives: a case report of hyperthyroidism disguised as STEMI in female pregnant patient.
Egypt Heart J
January 2025
Department of Cardiology and Vascular Medicine, Rumah Sakit Umum Daerah Gunung Jati, Kesambi Street No. 56, Cirebon, West Java, 45134, Indonesia.
Background: Acute myocardial infarction during pregnancy is a rare condition with an incidence of 1 to 10 per 100,000 deliveries. ST-elevation myocardial infarction (STEMI) is dominating the clinical presentation. It is estimated that 29% of the patients had normal coronary arteries, and hyperthyroidism may be associated with coronary vasospasm.
View Article and Find Full Text PDFDiagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.
Neurol Genet
December 2024
From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.
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