Search results for "Factor XII"

Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

2006

Hereditary angioedema is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types are both caused by mutations within the complement C1 inhibitor gene. A recently described new type does not show a deficiency of C1 inhibitor and affects almost exclusively women. We screened twenty unrelated index patients with this new type of hereditary angioedema for mutations in the coagulation factor XII gene. Two different missense mutations were identified in exactly the same position within exon 9 of the F12 gene. 'Mutation 1' (1032C-->A), encountered in five patients, predicts a threonine-to-lysine substitution…

Hereditary Angioedema with Normal C1 Inhibitor

2013

Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.

Distribution of factor XIIIa containing cells and collage nous components in radicular cysts: histochemical and immunohistochemical study

2011

Objective: 1) To differentiate various connective tissue layers in radicular cysts 2) To find the correlation between FXIIIa containing cells and fibrosis. Factor XIII, fibrin stabilizing factor, stabilizes the clot for blood coagulation and is also responsible for connective tissue organization in healing and tissue repair. FXIIIa has an important role during the process of fibrosis in various lesions, so we conducted a study to find its role in radicular cyst. Study Design: 10 cases of radicular cyst, reported in our hospital were selected. Clinical and follow up data of those cases were collected from the archives. Material and Methods: Histochemical analysis with Masson’s trichrome was …

Missense mutations of coagulation factor XII in hereditary angioedema with normal complement C1 inhibitor

2007

Antithrombotics and new interventions for venous thromboembolism: Exploring possibilities beyond factor IIa and factor Xa inhibition.

2021

Abstract Direct oral anti–activated factor X and antithrombin agents have largely replaced vitamin K antagonists as the standard of care in treatment of venous thromboembolism. However, gaps in efficacy and safety persist, notably in end‐stage renal disease, implantable heart valves or assist devices, extracorporeal support of the circulation, and antiphospholipid syndrome. Inhibition of coagulation factor XI (FXI) emerges as a promising new therapeutic target. Antisense oligonucleotides offer potential advantages as a prophylactic or therapeutic modality, with one dose‐finding trial in orthopedic surgery already published. In addition, monoclonal antibodies blocking activation and/or activ…

Severe plasma prekallikrein deficiency : clinical characteristics, novel KLKB1 mutations, and estimated prevalence

2020

BACKGROUND Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, and its prevalence remains unknown. PATIENTS/METHODS We described new families with PK deficiency, retrieved clinical and laboratory information of cases systematically searched in the (gray) literature, and collected blood of these cases for complementary analyses. The Genome Aggregation Database (gnomAD) and the population-based Gutenberg Health Study served to study the prevalence …

Hereditary angioedema: an update on causes, manifestations and treatment.

2019

Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recomm…

An Evaluation of Fibrin(ogen) Determinants of Thromboelastography

2011

Abstract Abstract 2251 Thromboelastography (TEG) was used in ∼200 studies published in 2009, is mainly used for global blood coagulation assessment, and is thrombin and fibrinogen concentration-dependent. Reflecting the time course of fibrin polymerization, TEG measures lag time, rate, and maximum amplitude (MA) of clot stiffness, and is substantially enhanced by platelets. To identify more specific fibrin(ogen) determinants potentially relevant to interpretation we investigated MA under different TEG conditions. The procedure utilizes a polymethylmethacrylate (hydrophobic surface) cup and pin set, the cup oscillating through 4° 45' (6 cycles/minute). The pin (sensor) is suspended via a tor…

Mutations in the Factor XII Gene in Solitary Cases of Recurrent Angioedema with Normal C1 Inhibitor Induced or Worsened by Oral Contraceptives or Hor…

2012

Missense Mutations in the Proline-Rich Region of Coagulation Factor XII in Hereditary and Idiopathic Angioedema.

2006

Abstract Hereditary angioedema (HAE) is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic HAE types (I and II) are caused by mutations in the complement C1 inhibitor gene, resulting in a functional deficiency of C1 inhibitor. Recently, a novel type of hereditary angioedema has been described, these patients showing normal C1 inhibitor concentration and activity in plasma (HAE with normal C1 inhibitor, HAE type III). With few exceptions, all reported patients have been women, and exposition to estrogens appears to be an important precipitating factor. Screening of twenty unrelated female patients with …