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Utilizing artificial intelligence for the detection of hemarthrosis in hemophilia using point-of-care ultrasonography.
Res Pract Thromb Haemost
November 2024
Children's Hospital of Central Switzerland, Luzern, Switzerland.
Background: Recurrent hemarthrosis and resultant hemophilic arthropathy are significant causes of morbidity in persons with hemophilia, despite the marked evolution of hemophilia care. Prevention, timely diagnosis, and treatment of bleeding episodes are key. However, a physical examination or a patient's assessment of musculoskeletal pain may not accurately identify a joint bleed.
View Article and Find Full Text PDFThe Evolution of Hemophilia Pharmacological Treatments and Therapeutic Targets at the Turn of the Third Millennium.
Semin Thromb Hemost
November 2024
Department of Transfusion Medicine and Hematology, Carlo Poma Hospital, Mantua, Italy.
Historically, the aim of treatment for hemophilia, the congenital X-linked hemorrhagic disorder due to deficiencies of coagulation Factor (F) VIII (hemophilia A) or FIX (hemophilia B), has been the replacement through factor concentrates, whose regular administration (i.e., prophylaxis) has been shown to be highly effective in preventing bleeding complications and it is currently considered the gold standard of hemophilia treatment.
View Article and Find Full Text PDFA transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates.
PLoS One
October 2024
Department of Gastroenterology, Hepatology, Infection Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Alu-elements comprise a large part of the human genome and some insertions have been shown to cause diseases. Here, we illuminate the protective role of an Alu-element in the 3'UTR of the human Factor 9 gene and its ability to ameliorate a poly(A) site mutation in a hemophilia B patient, preventing him from developing a severe disease. Using a minigene, we examined the disease-causing mutation and the modifying effect of the transposon in cellulo.
View Article and Find Full Text PDFSevere Hemophilic Arthropathy of the Knee: MRI Has Its Place.
Glob Pediatr Health
October 2024
Ibn Sina University Hospital Center, Rabat, Morocco.
Article Synopsis
- Hemophilia is a medical condition where a person has trouble stopping bleeding because their body doesn't have enough special proteins called coagulation factors.
- People with hemophilia can easily get bruises and bleeding in their joints, which can cause serious long-term problems in how their joints work.
- Doctors can diagnose hemophilia through blood tests and use MRI scans to see how the disease is affecting the bones and joints, as shown in two cases of patients with very similar symptoms.
Pathogenesis of osteoarthritis, rheumatoid arthritis, and hemophilic arthropathy: The role of angiogenesis.
Haemophilia
November 2024
Orthopedics and Traumatology Clinic, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Introduction: The term 'chronic inflammatory arthritis' (IA) can be used to define a group of heterogeneous diseases in which inflammation of the synovium is the common feature while having different pathogenesis and clinical outcomes. This condition can be found in osteoarthritis (OA), rheumatoid arthritis (RA), and hemophilic arthropathy (HA).
Aim: The objective is to try to highlight similarities and differences in the three pathological conditions and understand both molecular and physiological mechanisms.
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