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An atypical presentation of autoimmune hepatitis with delayed menarche in a Nigerian adolescent: a case report.
J Med Case Rep
January 2025
Gastroenterology Unit, Enugu State University of Science and Technology, Parklane, Enugu, Nigeria.
Background: Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presentation of autoimmune hepatitis in a Nigerian adolescent girl, highlighting diagnostic challenges in resource-limited settings. The case is unique owing to the absence of jaundice, a common symptom of liver dysfunction, and features such as delayed menarche and bilateral leg swelling.
View Article and Find Full Text PDFGuillain-Barré syndrome in patients with multiple myeloma: three cases report and literature review.
BMC Neurol
January 2025
Department of Hematology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Background: Multiple myeloma (MM) with Guillain-Barré syndrome (GBS) is relatively rare, and the specific mechanism is still unclear. The previous infection, surgery, and medication use may have contributed to the occurrence of GBS. The use of bortezomib in patients with MM can easily lead to peripheral neuropathy, which is similar to the symptoms of GBS, making it challenging to diagnose GBS.
View Article and Find Full Text PDFEstimation of Diagnostic Test Accuracy Without Gold Standards.
Stat Med
February 2025
Department of Biostatistics and Beijing International Center for Mathematical Research, Peking University, Beijing, China.
The ideal evaluation of diagnostic test performance requires a reference test that is free of errors. However, for many diseases, obtaining such a "gold standard" reference is either impossible or prohibitively expensive. Estimating test accuracy in the absence of a gold standard is therefore a significant challenge.
View Article and Find Full Text PDFAcrocyanosis: The Least Known Acrosyndrome Revisited With a Dermatologic Perspective.
Dermatol Res Pract
January 2025
Department of Dermatology, Acıbadem University School of Medicine, İstanbul, Turkey.
Acrocyanosis is a functional peripheral vascular disorder, currently categorized under the canopy of acrosyndromes, i.e., a group of clinically similar and significantly overlapping vascular disorders involving the acral skin.
View Article and Find Full Text PDFA compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Front Med (Lausanne)
January 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.
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