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Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
J Thromb Haemost
December 2024
Institute of Haematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: Myosin heavy chain 9-related diseases (MYH9-RDs) are rare autosomal dominant platelet disorders characterized by macrothrombocytopenia and leukocyte inclusion bodies. They can manifest with nonhematological complications, including deafness, nephropathy, or cataracts. Due to its rarity and its similar clinical presentation with immune thrombocytopenia (ITP), MYH9-RD is often misdiagnosed as ITP, leading to inappropriate treatment and delayed management of complications.
View Article and Find Full Text PDFClinicopathological Characteristics and Favorable Prognosis of Pediatric Cutaneous Nodular Fasciitis: A Case Series.
Clin Exp Dermatol
November 2024
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Article Synopsis
- - Cutaneous nodular fasciitis (cNF) is a rare, non-cancerous growth that can be mistaken for cancer due to its rapid development and similar appearance under a microscope.
- - A study of 15 pediatric cNF cases found that most occurred in kids around 6 years old, primarily on the head and neck, and revealed specific genetic changes (like the MYH9-USP6 fusion) in many samples.
- - The research emphasizes the benign nature of cNF, highlighting that most cases can resolve on their own without surgery and stresses the importance of proper diagnosis to prevent unnecessary treatments, especially in areas that are cosmetically sensitive.
Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.
Heliyon
September 2024
Department of Respiratory and Critical Care Medicine, Sichuan Provincial People's Hospital, No.32, West 2nd Section, 1st Ring Road, Qingyang District, Chengdu, 610072, Sichuan Province, China.
Article Synopsis
- * The diagnosis was confirmed through advanced slide reading technology that identified specific features in the patient's blood samples, leading to genetic testing that revealed a mutation in the MYH9 gene.
- * The report emphasizes the importance of recognizing hematologic signs and integrating genetic testing into standard diagnostic procedures to enhance patient care and avoid misdiagnoses like this one.
MYH9-related disease misdiagnosed for a decade: lessons from diagnostic pitfalls.
QJM
August 2024
Department of Hematology, Yamagata Prefectural Central Hospital, 1800 Aoyagi, Yamagata-shi, Yamagata 990-2292, Japan.
Diagnostic delay of MYH9-related disorder in Japan.
Br J Haematol
June 2024
Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan.
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