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Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
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Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFSmall Bowel Obstruction Linked to Meckel's Diverticulum: A Rare Case.
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Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, arising from incomplete obliteration of the vitelline duct. MD contains all layers of the intestinal wall and often remains asymptomatic. Gastrointestinal bleeding, bowel obstruction, and acute diverticulitis occur in a few cases.
View Article and Find Full Text PDFExtending health equity to people with moderate and mild hemophilia A: revisiting the HAVEN 6 trial.
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Department of Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan, USA.
Congenital hemophilia A (HA) disease severity has traditionally been categorized according to intrinsic factor (F)VIII levels, with <1% of normal indicating severe HA, 1% to 5% moderate HA, and 6% to 40% mild HA. However, mounting evidence illustrates considerable variability in bleeding phenotype regardless of FVIII level. Despite treatment advances, people with moderate or mild HA may be neglected, as treatment guidelines and established norms focus on FVIII levels, and many clinical trials do not include people with FVIII > 1%.
View Article and Find Full Text PDFAn assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional studies.
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Department of Physical and Rehabilitation Medicine, La Paz University Hospital (IdiPaz), Madrid, Spain.
Background: Clinical research has offered many definitions and fragmented perspectives of joint morbidity in haemophilia. As joint damage, pain and mobility impairment can be present without clinical record of persistent bleeding, a person-centric joint morbidity characterisation remained a priority for the haemophilia community, giving rise to the 'problem joint' concept. As diagnosing and managing joint morbidity is critical, the aim of this study was to analyse the holistic burden of problem joints in people with moderate or severe haemophilia A (HA).
View Article and Find Full Text PDFClinical and Genetic characterization of 51 Patients with Congenital Fibrinogen Disorders from China.
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Union Hospital of Huazhong University of Science & Technology, Institute of Hematology, Wuhan, China.
Objective To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population. Methods Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.
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