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Case Report: Two children with factor XII deficiency caused by novel F12 compound heterozygous variants [PDF]

Frontiers in Pediatrics
BackgroundFactor XII (FXII) deficiency (OMIM 234000) is a rare hereditary coagulation disorder caused by pathogenic variants within the F12 gene. It causes prolonged activated partial thromboplastin time without bleeding diathesis.
Rui-Xue Ma, Rui-Xue Ma, Hai-Yan Li, Yi-Hang Zhang, Xue-Min Zhang, Xue-Min Zhang, Yan-Juan Chen, Yan-Juan Chen, Yi-Lin Dai, Yi-Lin Dai, Gui-Xian Li, Gui-Xian Li, Wen-Hai Luo, Wen-Hai Luo, Jie Zhang, Yun-Fen Tian   +15 more
doaj   +4 more sources

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report [PDF]

Journal of Medical Case Reports, 2023
Background Factor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is commonly known as Hageman trait and is inherited in both autosomal recessive or dominant patterns ...
Mansour Aljabry, Aljoud Algazlan, Nouf Alsubaie, Shatha Bin Dher, Hassan Semar Aljabri, Ghazi S. Alotaibi   +5 more
doaj   +2 more sources

Hereditary factor XII deficiency in an adult patient: A case report [PDF]

SAGE Open Medical Case Reports, 2022
Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time.
Rehab Y Al-Ansari, Fatimah Al-Yami, Ghayah Almulhim, Alexander Woodman   +3 more
doaj   +2 more sources

An unanticipated prolonged baseline ACT during cardiac surgery due to factor XII deficiency [PDF]

Annals of Cardiac Anaesthesia, 2022
Factor XII (FXII) deficiency is a congenital disorder inherited as an autosomal recessive condition. In his heterozygous form, it is relatively common in the general population.
Heleen J.C L. Apostel, Ben De Bie, Suzanne Kats, Jan-Uwe Schreiber   +3 more
doaj   +2 more sources

Global cerebral infarction after aortic arch replacement surgery in a patient with postoperatively revealed factor XII deficiency: a case report [PDF]

Journal of Medical Case Reports, 2020
Background This case report presents a case of a patient with global cerebral infarction of uncertain etiology following an emergency surgery for acute type A aortic dissection. As a result, factor XII deficiency was revealed postoperatively.
Keisuke Yoshida, Shiori Tanaka, Yuki Sato, Kazuhiro Watanabe, Kenichi Muramatsu, Masahiro Murakawa   +5 more
doaj   +2 more sources

Friend or Foe: Factor XII Deficiency Discovered Incidentally during Management of NSTEMI [PDF]

Case Reports in Hematology, 2023
Factor XII (FXII) deficiency is a rare coagulopathy that typically goes undiagnosed due to the lack of abnormal bleeding or thrombosis. However, the accompanying prolonged activated partial thromboplastin time (aPTT) can create difficulties with ...
Patrick J. Beck, John Benfield, Joshua Morales   +2 more
doaj   +2 more sources

Cardiopulmonary bypass in a pediatric patient with factor XII deficiency [PDF]

The Journal of ExtraCorporeal Technology
The safe use of cardiopulmonary bypass (CPB) relies upon the ability to administer, monitor, and reverse anticoagulation. Although rare, the factor XII deficient patient creates a challenge for the perfusionist due to resultant complications in ...
Fenske Julie M., Tinius Juliani Julie, Herrington Cynthia   +2 more
doaj   +2 more sources

Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency

Hematology, 2022
Objectives To identify the clinical phenotypic and molecular pathogeneses of four cases of coagulation factor XII deficiency and to deepen the cognition of this disease.Methods Coagulation tests were performed through one stage of coagulation on a STAGO ...
Shanshan Li, Kuangyi Shu, Fanfan Li, Xiao Yang, Wei Yang, Manli Ye, Xiaoou Wang, Minghua Jiang   +7 more
doaj   +3 more sources

Factor XII Deficiency and Cardiopulmonary Bypass. [PDF]

J Extra Corpor Technol, 2014
Factor XII deficiency is a laboratory finding in patients who normally do not present with bleeding tendencies. This deficiency is important in the patient undergoing cardiopulmonary bypass because activated clotting times are not helpful in determining proper levels of heparin anticoagulation and its reversal.
Uppal V, Rosin M.
europepmc   +3 more sources

ClinGen Bayesian-Framework-Guided Interpretation of Compound Heterozygous F12 Variants in a Pregnant Woman with Factor XII Deficiency: A Case Report [PDF]

Diagnostics
Background and Clinical Significance: Isolated prolongation of activated partial thromboplastin time (aPTT) without a bleeding tendency presents a frequent diagnostic challenge and often leads to prolonged, inconclusive evaluations. Case Presentation: We
Kyung Sun Park, Ha-eun Cho
doaj   +2 more sources