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The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFEctopic thyroid tissue in the airway: a case report.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
Oxidation state of bioavailable dissolved organic matter influences bacterioplankton respiration and growth efficiency.
Commun Biol
January 2025
Marine Science Institute/Department of Ecology, Evolution and Marine Biology, University of California, Santa Barbara, CA, USA.
Oxygen consumption by oceanic microbes can predict respiration (CO production) but requires an assumed respiratory quotient (RQ; ΔO/ΔCO). Measured apparent RQs (ARQs) can be impacted by various processes, including nitrification and changes in dissolved organic matter (DOM) composition, leading to discrepancies between ARQ and actual RQ. In DOM remineralization experiments conducted in the eastern North Atlantic Ocean, ARQs averaged 1.
View Article and Find Full Text PDFGenetics of Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Department of Psychiatry and Yale Child Study Center, Yale School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA. Electronic address:
This review explores the genetic basis of Tourette syndrome (TS), a complex neuropsychiatric disorder characterized by motor and vocal tics. Family, twin, and molecular genetic studies provide strong evidence for a genetic component in TS, with heritability estimates ranging from 50% to 80%. The genetic architecture of TS is complex, involving both common variants with small effects and rare variants with larger effects.
View Article and Find Full Text PDFLeflunomide-induced drug reaction eosinophilia systemic symptoms and haemophagocytic lymphohistiocytosis overlap syndrome with rheumatoid arthritis.
BMJ Case Rep
January 2025
Department of Infectious Diseases, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical manifestations. We present a case of a woman in her late 40s with rheumatoid arthritis who developed DRESS/HLH overlap syndrome after starting hydroxychloroquine and leflunomide therapy. Despite corticosteroid treatment, her condition worsened, necessitating etoposide therapy.
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