Search results for "Factor XI"

showing 10 items of 40 documents

Recurrent angioedema and the threat of asphyxiation.

2009

Angioedema (also known as Quincke disease) is the name given to edema lasting 1–7 days that recurs at irregular intervals. Target organs are the skin, tongue, glottis and larynx, gastrointestinal tract, and sometimes other soft organs. The clinical symptom referred to as angioedema forms part of a variety of disease entities (Box 1, Figure 1). In Germany, according to the present author’s estimate, several thousand patients suffer from one of the forms of recurrent angioedema. Cases of sudden asphyxiation are rare, but do occur every now and again (1). This review aims to draw attention to the various clinical features of recurrent angioedema and the practical steps for dealing with it, and…

Larynxmedicine.medical_specialtyDNA Mutational AnalysisReview ArticleC1-inhibitorAsphyxiaimmune system diseasesRecurrenceRisk FactorsEdemamedicineAmbulatory CareHumanscardiovascular diseasesAngioedemaskin and connective tissue diseasesPseudoallergic reactionChronic urticariabiologyAngioedemabusiness.industryfood and beveragesGeneral MedicineAirway obstructionmedicine.diseaseDermatologyAirway Obstructionmedicine.anatomical_structureImmunologyHereditary angioedemaFactor XIIbiology.proteinmedicine.symptombusinessComplement C1 Inhibitor ProteinDeutsches Arzteblatt international
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Hereditary Angioedema with Normal C1 Inhibitor Activity Including Hereditary Angioedema with Coagulation Factor XII Gene Mutations

2006

Recurrent angioedema of the skin is a commonly diagnosed clinical symptom that can be found in various clinical entities [1,2]. Some types of angioedema of the skin are associated with episodes of upper airway obstruction that may be life threatening. Death by asphyxiation from laryngeal edema is well known in hereditary angioedema (HAE) due to C1 inhibitor deficiency [3,4] and in recurrent angioedema induced by angiotensinconverting enzyme (ACE) inhibitors [5–9]. Therefore, it is important to determine the exact type of angioedema in each patient. In many patients angioedema is associated with urticaria. If relapsing urticaria occurs simultaneously or alternately with angioedema, both cond…

MaleAllergymedicine.medical_specialtyImmunologyGene mutationLaryngeal EdemaC1-inhibitorimmune system diseasesHumansImmunology and AllergyMedicinecardiovascular diseasesAngioedemaskin and connective tissue diseasesAspirinAngioedemabiologybusiness.industryfood and beveragesmedicine.diseaseDermatologyPedigreeFactor XIIMutationImmunologyHereditary angioedemaSerum sicknessbiology.proteinFemalemedicine.symptombusinessComplement C1 Inhibitor Proteinmedicine.drugImmunology and Allergy Clinics of North America
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A Multicenter, Phase 2, Randomized, Placebo-Controlled, Double-Blind, Parallel-Group, Dose-Finding Trial of the Oral Factor XIa Inhibitor Asundexian …

2022

Background: Oral activated factor XI (FXIa) inhibitors may modulate coagulation to prevent thromboembolic events without substantially increasing bleeding. We explored the pharmacodynamics, safety, and efficacy of the oral FXIa inhibitor asundexian for secondary prevention after acute myocardial infarction (MI). Methods: We randomized 1601 patients with recent acute MI to oral asundexian 10, 20, or 50 mg or placebo once daily for 6 to 12 months in a double-blind, placebo-controlled, phase 2, dose-ranging trial. Patients were randomized within 5 days of their qualifying MI and received dual antiplatelet therapy with aspirin plus a P2Y12 inhibitor. The effect of asundexian on FXIa inhibition…

MaleTicagrelorAspirinMyocardial InfarctionAnticoagulantsHemorrhageFactor XIaPercutaneous Coronary InterventionTreatment OutcomeDouble-Blind MethodPhysiology (medical)HumansFemale03.02. Klinikai orvostanAcute Coronary SyndromeCardiology and Cardiovascular MedicinePrasugrel HydrochloridePlatelet Aggregation InhibitorsAgedCirculation
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Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

2006

International audience; Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema. Three forms of HAE have been described. The classic forms, HAE types I and II, occur as a consequence of mutations in the C1-inhibitor gene. In contrast to HAE types I and II, HAE type III has been observed exclusively in women, where it appears to be correlated with conditions of high estrogen levels--for example, pregnancy or the use of oral contraceptives. A recent report proposed two missense mutations (c.1032C-->A and c.1032C-->G) in F12, the gene encoding human coagulation factor XII (FXII, or Hageman factor…

MaleTime FactorsKinins030204 cardiovascular system & hematologyMESH: Founder Effect[SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunityLinkage Disequilibrium0302 clinical medicineMissense mutationHereditary Angioedema Type IIIGenetics(clinical)MESH: Models GeneticGenetics (clinical)MESH: Heterozygote0303 health sciencesFactor XII[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyFounder EffectMarkov ChainsPedigree3. Good healthMESH: Linkage DisequilibriumFactor XIIHereditary angioedemaFemalemedicine.symptomMESH: Factor XIIHeterozygotemedicine.medical_specialtyMESH: MutationMESH: PedigreeMESH: Bayes TheoremCoagulation Factor XIIBiology03 medical and health sciencesMESH: Markov ChainsReportInternal medicinemedicineGeneticsHumansMESH: AngioedemaAngioedema030304 developmental biologyMESH: HumansModels GeneticAngioedemaHaplotypeMESH: Time FactorsBayes TheoremHeterozygote advantageMESH: Haplotypesmedicine.diseaseMESH: KininsMESH: MaleEndocrinologyHaplotypesMutationImmunologyMESH: Microsatellite RepeatsMESH: FemaleMicrosatellite RepeatsThe American Journal of Human Genetics
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Coagulation factors and proteinase inhibitors in the plasma of children with acute lymphoblastic leukoses. Behaviour before and during treatment acco…

1984

The thrombocyte count, the factor XIII (F XIII) activity, the concentration of fibrinogen (F I), prothrombin (F II), fibronectin (CIG), albumin and the proteinase inhibitors antithrombin III (AT III), alpha 2-macroglobulin (A2M), alpha 1-antitrypsin (A1A) and Cl-esterase inactivator (Cl-INA) were determined in ten children with acute lymphoblastic leukaemia (ALL). Changes due to the disease and to therapy were observed. Before the start of treatment the patients had thrombocytopenia secondary to the disease, and the proteinase inhibitors--especially Cl-INA and A1A--were raised. During the induction phase the thrombocyte count rose but there was also a marked increase in the concentration of…

Malemedicine.medical_specialtyAdolescentAntithrombin IIIAlpha (ethology)Complement C1 Inactivator ProteinsFibrinogenMaintenance therapyInternal medicineDrug DiscoveryAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansProtease Inhibitorsalpha-MacroglobulinsChildGenetics (clinical)Factor XIIIbusiness.industryAntithrombinAlbuminFibrinogenGeneral MedicineFactor XIIIMolecular medicineBlood Coagulation FactorsFibronectinsLeukemia LymphoidEndocrinologyCoagulationChild Preschoolalpha 1-AntitrypsinImmunologyMolecular MedicineFemaleProthrombinbusinessmedicine.drugKlinische Wochenschrift
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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…

Malemedicine.medical_specialtyGenetic LinkageBiophysicsMutation MissenseCoagulation Factor XIImedicine.disease_causeBiochemistryC1-inhibitorInternal medicinemedicineMissense mutationHumansHereditary Angioedema Type IIIAngioedemaMolecular BiologyMutationFactor XIIAngioedemabiologyChemistryCell Biologymedicine.diseasePedigreeEndocrinologyHereditary angioedemaImmunologyFactor XIIbiology.proteinFemalemedicine.symptomComplement C1 Inhibitor ProteinBiochemical and biophysical research communications
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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.

Malemedicine.medical_specialtyImmunologyCoagulation Factor XIIC1-inhibitorDiagnosis DifferentialPregnancyRisk FactorsInternal medicinemedicineHumansImmunology and AllergyHereditary Angioedema Type IIIAngioedemaFactor XIIbiologyAngioedemabusiness.industryAngioedemas Hereditarymedicine.diseaseEndocrinologyTransgender hormone therapyFactor XIIMutationHereditary angioedemabiology.proteinFemaleDifferential diagnosismedicine.symptombusinessComplement C1 Inhibitor ProteinImmunology and Allergy Clinics of North America
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Plasma Kallikrein Contributes to Coagulation in the Absence of Factor XI by Activating Factor IX

2019

Objectives: FXIa (factor XIa) induces clot formation, and human congenital FXI deficiency protects against venous thromboembolism and stroke. In contrast, the role of FXI in hemostasis is rather small, especially compared with FIX deficiency. Little is known about the cause of the difference in phenotypes associated with FIX deficiency and FXI deficiency. We speculated that activation of FIX via the intrinsic coagulation is not solely dependent on FXI(a; activated FXI) and aimed at identifying an FXI-independent FIX activation pathway. Approach and Results: We observed that ellagic acid and long-chain polyphosphates activated the coagulation system in FXI-deficient plasma, as could be demo…

Malemedicine.medical_specialtyplasma kallikreinPREKALLIKREIN030204 cardiovascular system & hematologyPATHWAYMice03 medical and health sciencesTissue factor0302 clinical medicineThrombinInternal medicinemedicineAnimalsHEMOSTASIScoagulationBLOOD-COAGULATIONBlood CoagulationFactor XIFactor IXfactor IXPURIFICATIONbusiness.industryMOLECULAR-WEIGHT KININOGENThrombinPrekallikreinKallikreinfactor XIfactor XI deficiencyMice Inbred C57BLDEFICIENCYDisease Models AnimalTHROMBOSISEndocrinologyCoagulationTISSUE FACTOR030220 oncology & carcinogenesisHemostasisFemaleREDUCED INCIDENCECardiology and Cardiovascular Medicinebusinessmedicine.drug
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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 …

Pathologymedicine.medical_specialtyConnective tissueOdontologíaFibrinLesionTrichromeFibrosismedicineGeneral DentistryRadicular Cystbiologybusiness.industryAnatomyFactor XIIImedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludmedicine.anatomical_structureUNESCO::CIENCIAS MÉDICASbiology.proteinFactor XIIIamedicine.symptombusinessmedicine.drug
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Missense mutations of coagulation factor XII in hereditary angioedema with normal complement C1 inhibitor

2007

biologybusiness.industryImmunologyCoagulation Factor XIImedicine.diseaseComplement (complexity)C1-inhibitorHereditary angioedemaImmunologymedicinebiology.proteinMissense mutationbusinessMolecular BiologyMolecular Immunology
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