An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
Stable blood coagulation factor activated by contact with the subendothelial surface of an injured vessel. Along with prekallikrein, it serves as the contact factor that initiates the intrinsic pathway of blood coagulation. Kallikrein activates factor XII to XIIa. Deficiency of factor XII, also called the Hageman trait, leads to increased incidence of thromboembolic disease. Mutations in the gene for factor XII that appear to increase factor XII amidolytic activity are associated with HEREDITARY ANGIOEDEMA TYPE III.

Alzheimer's beta-amyloid peptides can activate the early components of complement classical pathway in a C1q-independent manner. (1/39)

beta-Amyloid (beta-A) accumulates in the brain of patients with Alzheimer's disease (AD) and is presumably involved in the pathogenesis of this disease, on account of its neurotoxicity and complement-activating ability. Although assembly of beta-A in particular aggregates seems to be crucial, soluble non-fibrillar beta-A may also be involved. Non-fibrillar beta-A does not bind C1q, so we investigated alternative mechanisms of beta-A-dependent complement activation in vitro. On incubation with normal human plasma, non-fibrillar beta-A 1-42, and truncated peptide 1-28, induced dose-dependent activation of C1s and C4, sparing C3, as assessed by densitometric analysis of immunostained membrane after SDS-PAGE and Western blotting. The mechanism of C4 activation was not dependent on C1q, because non-fibrillar beta-A can still activate C1s and C4 in plasma genetically deficient in C1q (C1qd). In Factor XII-deficient plasma (F.XIId) the amount of cleaved C4 was about 5-10% less that in C1qd and in normal EDTA plasma; the reconstitution of F.XIId plasma with physiologic concentrations of F.XII resulted in an increased (8-15%) beta-A-dependent cleavage of C4. Thus our results indicate that the C1q-independent activation of C1 and C4 can be partially mediated by the activation products of contact system. Since the activation of contact system and of C4 leads to generation of several humoral inflammatory peptides, non-fibrillar beta-A might play a role in initiating the early inflammatory reactions leading to a multistep cascade contributing to neuronal and clinical dysfunction of AD brain.  (+info)

Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. (2/39)

A homozygous cross-reacting material negative factor XII-deficient patient with 3% antigen and activity levels of factor XII was screened for the identification of a mutation at the genomic level. Low-ionic strength single-stranded conformation polymorphism (SSCP) analysis and sequence analysis showed that the proband's gene for factor XII had an A-->G substitution at nucleotide position 7832 in exon 3, resulting in a Tyr34 to Cys substitution in the NH2-terminal type II domain of factor XII. We designated this mutation as factor XII Tenri. Mutagenic polymerase chain reaction (PCR), followed by KpnI digestion, showed a homozygous mutation in the proband's gene and heterozygous mutations in his parents and sister. Immunoprecipitation and Western blot analyses of plasma samples from the factor XII Tenri family indicated that the proband had a trace amount of variant factor XII with an apparent molecular mass of 115 kD, which was converted to the normal 80-kD form after reduction, suggesting that factor XII Tenri was secreted as a disulfide-linked heterodimer with a approximately 35-kD protein, which we identified as alpha1-microglobulin by immunoblotting. Pulse-chase experiments using baby hamster kidney (BHK) cells showed that Tenri-type factor XII was extensively degraded intracellularly, but the addition of cystine resulted in increased secretion of the mutant. Using membrane-permeable inhibitors, we observed that the degradation occurred in the pre-Golgi, nonlysosomal compartment and a proteasome appeared to play a major role in this process. On the basis of these in vitro results, we speculate that the majority of the factor XII Tenri is degraded intracellularly through a quality control mechanism in the endoplasmic reticulum (ER), and a small amount of factor XII Tenri that formed a disulfide-linked heterodimer with alpha1-microglobulin is secreted into the blood stream.  (+info)

A modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasma. (3/39)

BACKGROUND: Blood coagulation factor XIII (FXIII) is a zymogen that is transformed into an active transglutaminase by thrombin and Ca(2+). FXIII plays an essential role in fibrin stabilization and in the protection of fibrin from proteolytic degradation. No convenient method has been available for the measurement of FXIII activity in plasma. The aim of the present study was to improve and optimize a kinetic photometric FXIII assay originally developed in our laboratory. METHODS: In the assay, FXIII was activated by thrombin and Ca(2+). Fibrin polymerization was prevented by an inhibitory tetrapeptide. Glycine-ethyl ester and a glutamine residue of a synthetic dodecapeptide served as acyl acceptor and acyl donor transglutaminase substrates, respectively. The amount of ammonia released during the reaction was monitored using glutamate dehydrogenase and NADPH. RESULTS: The use of a new glutamine substrate and optimization of activator and substrate concentrations increased sensitivity. Substitution of NADPH for NADH and introduction of an appropriate blank eliminated systemic overestimation of FXIII activity. The recovery of FXIII was 96%, the assay was linear up to 470 U/L, the detection limit was 1 U/L, and the imprecision (CV) was <8% even at very low FXIII activities. A reference interval of 108-224 U/L (69-143%) was established. The results correlated well with results obtained by an immunoassay specific for plasma FXIII. CONCLUSIONS: The optimized FXIII assay is a simple, rapid method for the diagnosis of inherited or acquired FXIII deficiencies and increased FXIII concentrations. It can be easily adapted to clinical chemistry analyzers.  (+info)

Defective thrombus formation in mice lacking coagulation factor XII. (4/39)

Blood coagulation is thought to be initiated by plasma protease factor VIIa in complex with the membrane protein tissue factor. In contrast, coagulation factor XII (FXII)-mediated fibrin formation is not believed to play an important role for coagulation in vivo. We used FXII-deficient mice to study the contributions of FXII to thrombus formation in vivo. Intravital fluorescence microscopy and blood flow measurements in three distinct arterial beds revealed a severe defect in the formation and stabilization of platelet-rich occlusive thrombi. Although FXII-deficient mice do not experience spontaneous or excessive injury-related bleeding, they are protected against collagen- and epinephrine-induced thromboembolism. Infusion of human FXII into FXII-null mice restored injury-induced thrombus formation. These unexpected findings change the long-standing concept that the FXII-induced intrinsic coagulation pathway is not important for clotting in vivo. The results establish FXII as essential for thrombus formation, and identify FXII as a novel target for antithrombotic therapy.  (+info)

Subdural hematoma in a patient with Hageman trait--case report. (5/39)

A 61-year-old man with severe factor XII deficiency presented with a subdural hematoma appearing as mixed but mainly high density by computed tomography in the left frontotemporoparietal region. No cranial injury was reported in the medical history of the patient. Clotting system study showed less than 1% functional activity of factor XII, whereas the levels of the other clotting factors were within the normal ranges. Partially clotted and hemolyzed subdural hematoma was removed through a craniotomy. The postoperative course was uneventful. The patient later died of severe circulatory-respiratory failure. We believe that the subdural hematoma may have developed as a result of a minor head trauma sustained in the past. We suggest that impairment of fibrinolytic activation related to severe factor XII deficiency might have contributed to the delay of dissolution of the subdural hematoma which, under ordinary circumstances, would have formed chronic subdural hematoma.  (+info)

Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. (6/39)

Formation of fibrin is critical for limiting blood loss at a site of blood vessel injury (hemostasis), but may also contribute to vascular thrombosis. Hereditary deficiency of factor XII (FXII), the protease that triggers the intrinsic pathway of coagulation in vitro, is not associated with spontaneous or excessive injury-related bleeding, indicating FXII is not required for hemostasis. We demonstrate that deficiency or inhibition of FXII protects mice from ischemic brain injury. After transient middle cerebral artery occlusion, the volume of infarcted brain in FXII-deficient and FXII inhibitor-treated mice was substantially less than in wild-type controls, without an increase in infarct-associated hemorrhage. Targeting FXII reduced fibrin formation in ischemic vessels, and reconstitution of FXII-deficient mice with human FXII restored fibrin deposition. Mice deficient in the FXII substrate factor XI were similarly protected from vessel-occluding fibrin formation, suggesting that FXII contributes to pathologic clotting through the intrinsic pathway. These data demonstrate that some processes involved in pathologic thrombus formation are distinct from those required for normal hemostasis. As FXII appears to be instrumental in pathologic fibrin formation but dispensable for hemostasis, FXII inhibition may offer a selective and safe strategy for preventing stroke and other thromboembolic diseases.  (+info)

Are hemostasis and thrombosis two sides of the same coin? (7/39)

Factor XII (FXII), a clotting enzyme that can initiate coagulation in vitro, has long been considered dispensable for normal blood clotting in vivo because hereditary deficiencies in FXII are not associated with spontaneous or excessive bleeding. However, new studies show that mice lacking FXII are protected against arterial thrombosis (obstructive clot formation) and stroke. Thus, FXII could be a unique drug target that could be blocked to prevent thrombosis without the side effect of increased bleeding.  (+info)

Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (8/39)

Transmission of congenital clotting factor deficiencies after orthotopic liver transplantation is rare. There are published reports of liver donor-to-recipient transmission of protein C deficiency with dysfibrinogenemia, protein S, factor VII and factor XI deficiencies. We report a case of transmission of factor XII deficiency with liver transplantation in a patient with Budd-Chiari syndrome. There was a persistent elevation of the activated partial thromboplastin time (aPTT), but no evidence of bleeding while the patient was maintained on warfarin. The presence of a persistently abnormal aPTT may raise suspicion for the presence of a clotting factor deficiency; however, deficiencies of other clotting factors may not be readily apparent on routine blood tests performed in a donor. Being aware of the possibilities of transmission of these inherited deficiencies of coagulation factors will aid in their early detection and management in the transplant donor and recipient.  (+info)

Factor XII deficiency, also known as Hageman factor deficiency, is a rare genetic disorder characterized by a lack or dysfunction of coagulation factor XII. This protein is involved in the initiation of the coagulation cascade, which leads to the formation of a blood clot. People with Factor XII deficiency may have an increased risk of bleeding, but it is typically mild and not life-threatening. The diagnosis is usually made through blood tests that measure the level and function of Factor XII. Treatment is generally not necessary unless there is significant bleeding, in which case fresh frozen plasma or cryoprecipitate may be given to provide temporary correction of the deficiency. It's important to note that Factor XII deficiency is not a common cause of bleeding disorders and it doesn't increase the risk of thrombosis.

Factor XII, also known as Hageman factor, is a protein that plays a role in the coagulation cascade, which is the series of events that leads to the formation of a blood clot. It is one of the zymogens, or inactive precursor proteins, that becomes activated and helps to trigger the coagulation process.

When Factor XII comes into contact with negatively charged surfaces, such as damaged endothelial cells or artificial surfaces like those found on medical devices, it undergoes a conformational change and becomes activated. Activated Factor XII then activates other proteins in the coagulation cascade, including Factor XI, which ultimately leads to the formation of a fibrin clot.

Deficiencies in Factor XII are generally not associated with bleeding disorders, as the coagulation cascade can still proceed through other pathways. However, excessive activation of Factor XII has been implicated in certain thrombotic disorders, such as deep vein thrombosis and disseminated intravascular coagulation (DIC).

... is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that ... "Factor XII Deficiency" (PDF). Pathology, Virginia Commonwealth University. Retrieved February 20, 2017. "Factor XII Deficiency ... hemophilia B with a deficiency in factor IX (Christmas disease), and hemophilia C with a deficiency in factor XI. Other rare ... Pauer HU, Burfeind P, Köstering H, Emons G, Hinney B (2003). "Factor XII deficiency is strongly associated with primary ...
Ting RZ, Szeto CC, Chan MH, Ma KK, Chow KM (October 2006). "Risk factors of vitamin B(12) deficiency in patients receiving ... Higher doses and prolonged use are associated with increased incidence of vitamin B12 deficiency, and some researchers ... Andrès E, Noel E, Goichot B (October 2002). "Metformin-associated vitamin B12 deficiency". Archives of Internal Medicine. 162 ( ... Gilligan MA (February 2002). "Metformin and vitamin B12 deficiency". Archives of Internal Medicine. 162 (4): 484-5. doi:10.1001 ...
Unlike other clotting factor deficiencies, factor XII deficiency is totally asymptomatic and does not cause excess bleeding. ... or factor XI deficiency. As a result, the main concern related to factor XII deficiency is the unnecessary testing, delay in ... In humans, factor XII is encoded by the F12 gene. Human Factor XII is 596 amino acids long and consists of two chains, the ... Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of factor XIIa, an enzyme (EC ...
Acquired cases are results from an isolated factor II deficiency. Specific cases include: Vitamin K deficiency: In the liver, ... Factor assays: To observe the performance of specific factors (II) to identify missing/poorly performing factors. These lab ... "Factor II Deficiency". DoveMed. Retrieved 2017-12-12. Bajaj S, Rapaport S, Fierer D, Herbst K, Schwartz D (1983). "A mechanism ... Vitamin K-dependent coagulation factors have a very short half-life, sometimes leading to a deficiency when a depletion of ...
... partial deficiency of factor VIII:C, partial deficiency of factor XI:C, partial deficiency of factor XII:C, and an imbalance of ... resemble that of the general population and treatment of bleeding diathesis is guided by the specific factor deficiency or ... Additional factors may present in the form of winging of the scapula, scoliosis, breast bone prominence (pectus carinatum), ... 12 (3): 283-5. doi:10.1038/nm0306-283. PMID 16520774. S2CID 6989331. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo ...
... such as factor V Leiden, prothrombin 20210A mutation, and protein C, S, and antithrombin III and factor XII deficiency. The ... SVT has risk factors similar to those for other thrombotic conditions and can arise from a variety of causes. Diagnosis is ... Many of the risk factors that are associated with SVT are also associated with other thrombotic conditions (e.g. DVT). These ... Other risk factors include immobilization (stasis) and laparoscopy. Hypercoagulable states due to genetic conditions that ...
Factor XIII Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al. (2015). "Factor XIII Deficiency in ... "Recombinant Factor XIII". 2010. "Factor XIII". 2014-03-05. Muszbek, Laszlo; et al. (1999). "Blood coagulation factor XIII: ... "Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency". ... Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one ...
... factor XI deficiency) is centered on prolonged activated partial thromboplastin time (aPTT). One will find that the factor XI ... "Orphanet: Congenital factor XI deficiency Hemophilia C". www.orpha.net. Retrieved 2016-07-12. Orkin, Stuart H.; Nathan, David G ... "OMIM Entry - # 612416 - FACTOR XI DEFICIENCY". omim.org. Retrieved 2016-07-12. Kitchens, Craig S.; Konkle, Barbara A.; Kessler ... "Factor XI Deficiency: Background, Pathophysiology, Epidemiology". 2018-07-02. {{cite journal}}: Cite journal requires ,journal ...
Following is a list of potential risk factors that may lead to iodine deficiency: Low dietary iodine Selenium deficiency ... The diagnostic workup of a suspected iodine deficiency includes signs and symptoms as well as possible risk factors mentioned ... Congenital iodine deficiency syndrome, previously known as cretinism, is a condition associated with iodine deficiency and ... iodine deficiency remained a serious public health problem in the developing world. Iodine deficiency is also a problem in ...
Deficiencies of factors VIII, IX, XI and XII and rarely von Willebrand factor (if causing a low factor VIII level) may lead to ... anti-hemophilic factor), X (Stuart-Prower factor), XI (plasma thromboplastin antecedent), and XII (Hageman factor). The PTT is ... Normal PTT requires the presence of the following coagulation factors: I, II, V, VIII, IX, X, XI and XII. Notably, deficiencies ... coagulation factor deficiency (e.g., hemophilia) sepsis - coagulation factor consumption presence of antibodies against ...
... congenital factor VIII deficiency). Turoctocog alfa pegol is indicated for the treatment and prophylaxis of bleeding in adults ... and children twelve years and above with haemophilia A (congenital factor VIII deficiency). In the safety and efficacy trial ... is for congenital FVIII deficiency. NovoSeven is called a bypassing agent because it skips the need for factor VIII or IX in ... "Antihemophilic factor Use During Pregnancy". Drugs.com. 20 January 2020. Archived from the original on 16 July 2020. Retrieved ...
Pellagra, caused by niacin deficiency. Chloride, sodium, potassium, zinc and/or iodine deficiency, as these elements are needed ... These have also proved to be factors of acid secretion in the stomach. Autoimmune conditions can often be managed with various ... Bacterial overgrowth and B12 deficiency (pernicious anemia) can cause micronutrient deficiencies that result in various ... Autoimmune disorders are also a cause for small bacterial growth in the bowel and a deficiency of Vitamin B-12. ...
"The Influence of Deficiency of Accessory Food Factors on the Intesting", British Medical Journal, 2 (3054): 36-39, doi:10.1136/ ... "Dietetic Deficiency And Endocrine Activity, With Special Reference To Deficiency Oedemas", British Medical Journal, 2 (3111): ... His 1921 book Studies in Deficiency Disease was considered notable at the time, being published at a time when knowledge of ... McCarrison himself noted that prior to publication of his studies on the pathogenesis of deficiency disease "no systemic post- ...
The type of haemophilia known as parahaemophilia is a mild and rare form and is due to a deficiency in factor V. This type can ... Factor VIII is used in haemophilia A and factor IX in haemophilia B. Factor replacement can be either isolated from human blood ... Thalji, N; Camire, RM (September 2013). "Parahemophilia: new insights into factor v deficiency". Seminars in Thrombosis and ... Al-Fadhil, Nawal; Pathare, Anil; Ganesh, Anuradha (2001-10-01). "Traumatic Hyphema and Factor XI Deficiency (Hemophilia C)". ...
"Senators Press Defense Department to End "Plugging" Numbers false numbers mask accounting and control deficiencies". Nebraska ... Fudge factor "Senators Press Defense Department to End "Plugging" Numbers -- false numbers mask accounting and control ... and effectively masks accounting errors and control deficiencies". Plugging will make an analysis unreliable, resulting for ... June 12, 2014. Retrieved 16 June 2014. "Definitions: P - Management & legal, plug number". Homewyse. Costwyse LLC. n.d. ...
Lymphoproliferation caused by Fas deficiency is dependent on the transcription factor eomesodermin". Journal of Immunology. 185 ... Wang HT, Ge XS, Xue ZP, Li BQ (Jan 2010). "[Role of transcription factor T-bet and Eomes in IFN-gamma secretion of different ... Costello I, Pimeisl IM, Dräger S, Bikoff EK, Robertson EJ, Arnold SJ (Sep 2011). "The T-box transcription factor Eomesodermin ... Tbr2 has been observed in a transcription factor cascade to enable to development of glutamatergic neurons. Pax6, as expressed ...
PK is cleaved to produce kallikrein by activated Factor XII (Hageman factor). Prekallikrein is homologous to factor XI, and ... The family appeared to have a hereditary deficiency in an unknown coagulation factor, dubbed "Fletcher factor" after the family ... However, unlike factor XI, prekallikrein does not form dimers. Prekallikrein is activated to form kallikrein by factor XII ... Although most cases of prekallikrein deficiency are asymptomatic, a few reports link severe prekallikrein deficiency with ...
Steel, E. G.; Witzel, D. A.; Blanks, A. (1976). "Acquired coagulation factor X activity deficiency connected with Hymenoxys ... site and phenological factors on hymenoxon content of bitterweed (Hymenoxys odorata)". J Anim Sci. 65 (6): 1553-62. doi:10.2527 ... as well as inhibition of clotting factors. An ill sheep may be bloated, anorexic, weak, drooling, and vomiting. Acute and ... 37 (12): 1383-6. PMID 999065. Bitter Rubberweed (Hymenoxys odorata) USDA Poisonous Plants Research Jepson Manual Treatment, ...
... congenital Factor VIII deficiency) for: (1) On-demand treatment and control of bleeding episodes ; (2) Perioperative management ... In the United States damoctocog alfa pegol is indicated for use in previously treated adults and adolescents (twelve years of ... congenital factor VIII deficiency). "Jivi". Therapeutic Goods Administration (TGA). 6 April 2023. Retrieved 7 April 2023. "Jivi ... Damoctocog alfa pegol, sold under the brand name Jivi is a recombinant DNA-derived, Factor VIII concentrate medication used to ...
Copper is a required cofactor for factor VIII and copper deficiency is known to increase the activity of factor VIII. There is ... Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII ... It is a cofactor to factor IXa in the activation of factor X, which, in turn, with its cofactor factor Va, activates more ... The active protein (sometimes written as coagulation factor VIIIa) interacts with another coagulation factor called factor IX. ...
... factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor". ... She also identified the mutations responsible for several Factor VII and Factor X-deficient blood clotting disorders. High ... "Factor This! Series: An Interview with Dr. Katherine A. High ·". onthepulseconsultancy.com. 19 January 2018. Retrieved 6 ... "Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector". Nature Genetics. ...
June 1996). "Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti- ... September 1998). "A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for ... T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary ... Min JH, Wilder C, Aoki J, Arai H, Inoue K, Paul L, Gelb MH (April 2001). "Platelet-activating factor acetylhydrolases: broad ...
Impaired absorption explains most cases of vitamin B12 deficiency, but it can also result from other factors. Impaired ... Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition in which the blood and tissue have a lower ... Severe vitamin B12 deficiency can damage nerve cells. If this happens, vitamin B12 deficiency may result in sense loss, loss of ... The presence of antibodies to gastric parietal cells and intrinsic factor may indicate pernicious anemia. Deficiency can ...
In the 1950s, vWD was shown to be caused by a plasma factor deficiency (instead of being caused by platelet disorders), and, in ... Factor VIII is released from VWF by the action of thrombin. In the absence of VWF, factor VIII has a half-life of 1-2 hours; ... GeneReviews/NCBI/NIH/UW entry on von Willebrand Factor Deficiency. Includes: Type 1 von Willebrand Disease, Type 2A von ... Von Willebrand Factor's primary function is binding to other proteins, in particular factor VIII, and it is important in ...
... factor XII, factor XI, and factor IX). Factor XIa activates factor IX by selectively cleaving arg-ala and arg-val peptide bonds ... allowing factor XI's protease activity on it. Deficiency of factor XI causes the rare hemophilia C; this mainly occurs in ... "Activation of human blood coagulation factor XI independent of factor XII. Factor XI is activated by thrombin and factor XIa in ... Factor IXa, in turn, forms a complex with Factor VIIIa (FIXa-FVIIIa) and activates factor X. Physiological inhibitors of factor ...
... von Willebrand factor, fibrinogen, thrombospondin-1, and osteonectin. There is also a quantitative deficiency in the platelet ... qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von ... Willebrand factor, and fibrinogen and an epinephrine aggregation defect". Blood. 87 (12): 4967-78. doi:10.1182/blood.V87.12. ... 12-24hrs after injury). In 2010, the genetic cause of QPD was determined as a mutation involving an extra copy of the gene ...
Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have ... 1996). "An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet ... A unique protein with RGDS, coiled-coil, and epidermal growth factor-like domains and a carboxyl terminus similar to the ... 2005). "Identification of the MMRN1 binding region within the C2 domain of human factor V". J. Biol. Chem. 279 (49): 51466-71. ...
"A synthetic lethality-based strategy to treat cancers harboring a genetic deficiency in the chromatin remodeling factor BRG1". ... whereas a deficiency in only one of these genes does not. The deficiencies can arise through mutations, epigenetic alterations ... Watanabe R, Ui A, Kanno S, Ogiwara H, Nagase T, Kohno T, Yasui A (2014). "SWI/SNF factors required for cellular resistance to ... Synthetic lethality arises when a combination of deficiencies in the expression of two or more genes leads to cell death, ...
GATA2 deficiency is a grouping of several disorders caused by common defect, viz., familial or sporadic inactivating mutations ... This type is refractory to granulocyte colony-stimulating factor. There is an absence of lysosomes in fibroblasts and depletion ... Most cases of SCN respond to treatment with granulocyte colony-stimulating factor (filgrastim), which increases the neutrophil ... The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood- ...
... factor X deficiency MeSH C16.320.099.325 - factor XI deficiency MeSH C16.320.099.330 - factor XII deficiency MeSH C16.320. ... factor V deficiency MeSH C16.320.099.310 - factor VII deficiency MeSH C16.320.099.320 - ... 099.335 - factor XIII deficiency MeSH C16.320.099.500 - hemophilia A MeSH C16.320.099.510 - hemophilia B MeSH C16.320.099.515 ... pyruvate dehydrogenase complex deficiency disease MeSH C16.320.565.240 - cytochrome-c oxidase deficiency MeSH C16.320.565.390 ...
Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that ... "Factor XII Deficiency" (PDF). Pathology, Virginia Commonwealth University. Retrieved February 20, 2017. "Factor XII Deficiency ... hemophilia B with a deficiency in factor IX (Christmas disease), and hemophilia C with a deficiency in factor XI. Other rare ... Pauer HU, Burfeind P, Köstering H, Emons G, Hinney B (2003). "Factor XII deficiency is strongly associated with primary ...
Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. ... Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. ... Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. ... Factor XII is one such factor. A lack of this factor does not cause you to bleed abnormally. But, the blood takes longer than ...
Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation ... coagulation factor XII. Names. Hageman factor. Plasma coagulation Factor XIIa. beta-factor XIIa part 1. beta-factor XIIa part 2 ... Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to ... Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A Prospective Case-Referent Study. Title: Factor XII ...
Thrombin, in turn, activates platelets, as well as factors XI, VIII, and V, and triggers the sequential activation of factors ... Blood coagulation is triggered by the exposure of tissue factor at injury sites, leading to the generation of minute quantities ... Factor XII deficiency. Factor XII deficiency is defined as an absence or reduced level of blood coagulation factor XII (Hageman ... were moderately deficient in factor XII (factor XII activity, 17-50%; antigen, 15-57%). The prevalence of factor XII deficiency ...
... and risk factors for deficiency before implementation of a national fortification program in Cameroon.. Methods: A nationally ... Home / Citations / Regional, socioeconomic, and dietary risk factors for vitamin B-12 def... ... Regional, socioeconomic, and dietary risk factors for vitamin B-12 deficiency differ from those for folate deficiency in ... Regional, socioeconomic, and dietary risk factors for vitamin B-12 deficiency differ from those for folate deficiency in ...
Factor XII Deficiency (Variant 1) Factor XII Deficiency, also known as Hageman trait, is an asymptomatic blood factor ... Factor XII Deficiency (Variant 2) Factor XII Deficiency, also known as Hageman trait, is an asymptomatic blood factor ... Hemophilia B, or Factor IX Deficiency, is a blood clotting disorder that can result in tiredness, decreased appetite, fever, ... Hemophilia B, or Factor IX Deficiency, is a blood clotting disorder that can result in tiredness, decreased appetite, fever, ...
Coagulation factor XII (FXII) deficiency is associated with decreased neutrophil migration, but the mechanisms remain ... Induction of expression of monocyte interleukin 1 by Hageman factor (factor XII). Proc Natl Acad Sci U S A. 1992;89(24):11969- ... Factor XII (FXII) is the zymogen of serine protease factor XIIa (FXIIa). Discovered by Ratnoff 60 years ago, FXII was first ... Coagulation factor XI improves host defence during murine pneumonia-derived sepsis independent of factor XII activation. Thromb ...
Prevalence and risk factors of iodine deficiency among school children (6-12) years in Kingdom of Bahrain. Publication date: ... The misconception that iron deficiency is equivalent to anemia may mask the need to address other potential causative factors. ... Iodine deficiency disorders (IDD) affects nearly 1.9 million people worldwide. Iodine deficiency (ID) remains a public health ... Same for iron deficiency; it is considered a crucial problem in women of reproductive age, especially pregnant women and ...
Factor XII Deficiency ... View other providers who treat Anemia and Iron Deficiency ...
This effect was not seen in a control group of persons with mental deficiency but no DS, suggesting specificity. [148] Other ... Genetic and host factors for dementia in Downs syndrome. Br J Psychiatry. 2002 May. 180:405-10. [QxMD MEDLINE Link]. ... Genetic and host factors for dementia in Downs syndrome. Br J Psychiatry. 2002 May. 180:405-10. [QxMD MEDLINE Link]. ... Pathophysiology/Risk Factors. Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main ...
Inherited or acquired deficiencies in factor V are rare causes of bleeding disorders. ... Factor V is an essential component in the blood coagulation cascade. ... Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. ... encoded search term (Factor V Deficiency) and Factor V Deficiency What to Read Next on Medscape ...
Other terms for this disorder include plasma thromboplastin antecedent (PTA) deficiency, Rosenthal syndrome, and hemophilia C ( ... deficiency is an autosomal disorder that may be associated with bleeding. ... encoded search term (Factor XI Deficiency) and Factor XI Deficiency What to Read Next on Medscape ... Factor XI deficiency. Diagram from the traditional cascade-waterfall model of coagulation shows the place of factor XI in the ...
TRANSPORTATION 17 XII. CLINICAL MANAGEMENT 17 XIII. DISEASES 20 MARINE MAMMALS TAXONOMY I. Order Cetacea A. Suborders 1. ... White, J. R.: Thiamine deficiency in an Atlantic bottle-nosed dolphin (Tursiops truncatus) on a diet of raw fish. JAVMA, 157: ... PARASITIC Dailey, M. D. and Walker, W. A.: Parasitism as a factor (?) in single standings of southern California cetaceans. J. ... Rigdon, R. H., and Drager, G. A.: Thiamine deficiency in sea lions (Otaria califoriana) fed only frozen fish. JAVMA, 453-455, ...
Folate (vitamin B9) deficiency anemia: Causes, symptoms, risk factors, treatment and prevention ... What is folate deficiency anemia?. Not having enough folate in your body leads to anemia, a condition wherein the body cannot ... Folate deficiency is much more common in older people, affecting one in 10 people aged 75 and above. People between the ages of ... Related: A folate deficiency puts you at risk of several diseases, research finds.) Low levels of folate in the blood can also ...
The factors could represent the symptoms related to joints, cold-syndrome, deficiency syndrome and heat-syndrome in traditional ... Correlation between efficacy and deficiency syndrome related factor after 12 and 24 weeks of treatment [Cases (%)]" ... Eighteen symptoms in the RA patients were analyzed by factor analysis and the relationships between the factors and effects ... Load coefficient of each common factor after factor analysis of RA symptoms" ...
... also known as Hageman factor, is indicated when factor XII deficiency is suspected. The reference range of factor XII is 60-150 ... Factor XII, also known as Hageman factor, is indicated when factor XII deficiency is suspected. ... Factor XIIa activates factor XI, which in turn leads to the activation of factor IX. Factor XII, HK, and PK are necessary for a ... Factor XII is synthesized in the liver. Factor XII, factor XI, high-molecular-weight kininogen (HK), and prekallikrein (PK) are ...
Coagadex is a prescription medication used to replace the clotting factor that is missing in people with Factor X deficiency. ... Factor X deficiency is an inherited bleeding disorder that prevents blood from clotting normally. Coagadex is used to treat and ... The dosage and duration of treatment depend on the severity of the Factor X deficiency, on the location and extent of the ... Your healthcare provider will tell you how much Coagadex to use based on your weight, the severity of your Factor X deficiency ...
... because they inhibit factor IIa but not factor Xa[13]. A false-positive result for a type II deficiency may occur in the ... thus minimizing the effect of factor V deficiencies and factor FVIII elevations that alter the baseline aPTT. Despite these ... Factor Xa-based assays might be less sensitive to type II deficiencies than the IIa-based assays[12]. Direct thrombin ... a well-defined genetic thrombophilic risk factors and 2/potential risks factors of thrombophilia.Well-defined VTE risk factors ...
Factor XII deficiency: a clinical and molecular genetic study. Demidova Ekaterina, et al. International journal of hematology ... Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family. Wang Yu, et al. ...
Factor XII Deficiency. Glycogen Storage Disease Type IV. GM1 Gangliosidosis. GM2 Gangliosidosis, Domestic Shorthair HEXB ... Pyruvate Kinase (PK) Deficiency. Retinal Dystrophy (rdAc). Spinal Muscular Atrophy (SMA)/Spinal Muscular Dystrophy. Vitamin D- ... Chylomicronemia, Lipoprotein Lipase Deficiency. Congenital Adrenal Hyperplasia. Congenital Erythropoietic Porphyria; UROS ...
Factor XII deficiency. Felis catus. domestic cat. F12 2015 2022-09-17. ... Factor XI deficiency. Felis catus. domestic cat. F11 2022 2023-05-02. ... Vitamin-K-dependent blood coagulation factors deficiency. Felis catus. domestic cat. 2005-09-06. ... Dihydropyrimidinase deficiency. Felis catus. domestic cat. DPYS 2012 2020-05-15. OMIA:000319-9685 Ears, folded (drop vs prick) ...
Main article: Factor XII deficiency. Factor XII deficiency is a rare disorder that is inherited in an autosomal recessive ... Factor XII is part of the coagulation cascade and activates factor XI and prekallikrein in vitro. Factor XII itself is ... or factor XI deficiency.[6] As a result, the main concern related to factor XII deficiency is the unnecessary testing, delay in ... factor XII deficiency is totally asymptomatic and does not cause excess bleeding.[6] Mice lacking the gene for factor XII, ...
Factor XII Deficiency. *Fanconi Anemia. *Feltys Syndrome. *Fibrous Dysplasia. *Gaucher Disease. *Gerstmann Syndrome ...
A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X ... A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree Subject Area: Hematology , ... Background: Mutations in the F10-coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and ... Blood Coagulation Factor X Deficiency Causes Partial Embryonic Lethality and Fatal Neonatal Bleeding in Mice ...
However, because of such factors as nutritional deficiencies, underfunded, lower-performing K-12 systems, and the destruction ... 12/12/11).. Linking financial funding to degree completion rate hurts because a higher percentage of community college students ...
... magnesium and copper by a factor of 3, chloride levels by a factor of 4, iron and selenium by almost 5, iodine and sodium by ... Prevalence of iron deficiency in 12-mo-old infants from 11 European areas and influence of dietary factors on iron status (Euro ... The anti-immune factors in the first few weeks of mothers milk are indeed unique to human milk, and cannot be duplicated or ... These factors were the immune-protecting compounds sIgA, lysozyme and lactoferrin.9 We are tempted to ask how researchers with ...
... partial deficiency of factor VIII:C, partial deficiency of factor XI:C, partial deficiency of factor XII:C, and an imbalance of ... resemble that of the general population and treatment of bleeding diathesis is guided by the specific factor deficiency or ... Additional factors may present in the form of winging of the scapula, scoliosis, breast bone prominence (pectus carinatum), ... including one mediated by the epidermal growth factor receptor, which is important in the formation of the semilunar heart ...
  • Background: Representative data on folate and vitamin B-12 dietary intake and status in low-income countries are rare, despite the widespread adoption of folic acid fortification. (ihsn.org)
  • Objective: The purpose of this study was to evaluate folate and vitamin B-12 intake, status, and risk factors for deficiency before implementation of a national fortification program in Cameroon. (ihsn.org)
  • In a subset of women and their 12- to 59-mo-old children (n = 396 pairs), plasma folate and vitamin B-12, as well as breast milk vitamin B-12, were analyzed. (ihsn.org)
  • Results: Vitamin B-12 and folate dietary intake patterns and plasma concentrations were similar for women and children. (ihsn.org)
  • Conclusions: Folate intake and status are inadequate among women and young children in Yaoundé/Douala, whereas low vitamin B-12 intake and status are more common in poor and rural areas, especially in the North. (ihsn.org)
  • By smothering her daughter in factor-50 sun screen she deprived the youngster of vitamin D, which is produced by the body as a reaction to sunlight on the skin. (ecochildsplay.com)
  • But experts said Tyler was one of a growing number of children found to be suffering from the condition or associated vitamin deficiencies attributed to a combination of less active modern lifestyles and a tendency to cover up more in the sun. (ecochildsplay.com)
  • British health officials now recommend people spend 15 minutes outside during peak sun hours three times a week to prevent vitamin D deficiency, as sunlight is responsible for 90 percent of our vitamin D intake. (ecochildsplay.com)
  • Rowe S. and Carr A.C. Global vitamin C status and prevalence of deficiency: A cause for concern? (otago.ac.nz)
  • Carr A.C. and Rowe S. Factors affecting vitamin C status and prevalence of deficiency: a global health perspective. (otago.ac.nz)
  • While extreme vitamin C deficiency is known to cause scurvy, it is less well known that mild to moderate deficiency can contribute to fatigue. (naturalfactors.com)
  • [6] Because of this, vitamin C deficiency can result in carnitine deficiency, which results in decreased energy production and may contribute to fatigue. (naturalfactors.com)
  • Vitamin C. https://lpi.oregonstate.edu/mic/vitamins/vitamin-C#deficiency. (naturalfactors.com)
  • Deficiency of vitamin B -12 is also very important factor for the edema. (alwaysayurveda.net)
  • A glycoprotein secreted by the cells of the GASTRIC GLANDS that is required for the absorption of VITAMIN B 12 (cyanocobalamin). (uchicago.edu)
  • Deficiency of intrinsic factor leads to VITAMIN B 12 DEFICIENCY and ANEMIA, PERNICIOUS. (uchicago.edu)
  • One study notes vitamin C supplementation may improve skin hydration and stimulate the production of collagen, two factors that can slow the appearance of again. (eatthis.com)
  • As the world's attention has been riveted upon the growing COVID-19 pandemic, many researchers have written brief reports supporting the hypothesis that vitamin D deficiency is related to the incidence and severity of COVID-19. (frontiersin.org)
  • The clear common thread among the top risk groups-vitamin D deficiency-may be being overlooked because of previous overstated claims of vitamin D benefits. (frontiersin.org)
  • Firstly, the innate immune system is impaired by vitamin D deficiency, which would predispose sufferers to viral infections such as COVID-19. (frontiersin.org)
  • Vitamin D deficiency also increases the activity of the X-chromosome-linked "Renin-Angiotensin" System, making vitamin D deficient individuals (especially men) more susceptible to COVID-19's deadly "cytokine storm" (dramatic immune system overreaction). (frontiersin.org)
  • Secondly, the groups who are at highest risk for severe COVID-19 match those who are at highest risk for severe vitamin D deficiency. (frontiersin.org)
  • And thirdly, the pattern of geographical spread of COVID-19 reflects higher population vitamin D deficiency. (frontiersin.org)
  • Both within the USA and throughout the world, COVID-19 fatality rates parallel vitamin D deficiency rates. (frontiersin.org)
  • Although randomized controlled trial results may be available eventually, the correlational and causal study evidence supporting a link between vitamin D deficiency and COVID-19 risks is already so strong that it supports action. (frontiersin.org)
  • The 141 author groups writing primarily about biological plausibility detailed how vitamin D deficiency can explain every risk factor and every complication of COVID-19, but agreed that other factors are undoubtedly at work. (frontiersin.org)
  • Two causal modeling studies and several analyses of variance strongly supported the hypothesis that vitamin D deficiency is a causal, rather than a bystander, factor in COVID-19 outcomes. (frontiersin.org)
  • The literature review also found that prophylactically correcting possible vitamin D deficiency during the COVID-19 pandemic is extremely safe. (frontiersin.org)
  • Current methods of anticoagulation to reduce VTE target plasma procoagulant activity via broad (e.g., vitamin K antagonists that reduce the circulating levels of γ-carboxylated clotting factors) or specific (e.g., new/direct oral anticoagulants that target factor Xa or thrombin) approaches. (zedira.com)
  • Low levels of vitamin D have long been identified as an unwanted hallmark of weight loss surgery, but now findings of a new Johns Hopkins study of more than 930,000 patient records add to evidence that seasonal sun exposure - a key factor in the body's natural ability to make the "sunshine vitamin" - plays a substantial role in how well people do after such operations. (hopkinsmedicine.org)
  • Sun exposure is critical in the synthesis of vitamin D, so the notion that people living in less sunny northern states may suffer from vitamin D deficiency is not surprising," says Peterson. (hopkinsmedicine.org)
  • However, the researchers note, obesity is a well-known risk factor for vitamin D deficiency, and patients preparing to undergo weight loss operations should be screened for it. (hopkinsmedicine.org)
  • The growing rates of obesity and increased popularity of bariatric surgeries mean that primary care clinicians and bariatric surgeons should consider screening their patients and correcting any confirmed vitamin D deficiency," says Peterson. (hopkinsmedicine.org)
  • Prothrombin is a vitamin K-dependent clotting factor. (labpedia.net)
  • It is most abundant and has the longest half-life of the vitamin K-dependent clotting factors. (labpedia.net)
  • This may be acquired by vitamin K deficiency or oral anticoagulants like warfarin therapy. (labpedia.net)
  • Participants will be given 25000 IU of oral retinyl Palmitate (Vitamin A) or Placebo once daily for 12 weeks. (who.int)
  • The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. (nih.gov)
  • [ 1 ] Blood coagulation is triggered by the exposure of tissue factor at injury sites and its interaction with activated factor VII, leading to the generation of minute quantities of thrombin. (medscape.com)
  • For use in patients with blood coagulation deficiencies. (medscape.com)
  • Factor XII is responsible for the contact activation of blood coagulation as seen in the activated partial thromboplastin time test (aPTT). (medscape.com)
  • However, factor XII, HK, PK and complement factor C1q participate in inflammatory responses that involve blood coagulation, fibrinolysis, and generation of kinins. (medscape.com)
  • It belongs to a group of drugs called blood coagulation factors. (rxwiki.com)
  • Hepatocytes express blood coagulation factor XII. (wikidoc.org)
  • Characterization of the human blood coagulation factor XII gene. (wikidoc.org)
  • Some of the recently discovered genetic risk factors, such as factor V Leiden and prothrombin G20210A mutations, are quite common in the population. (intechopen.com)
  • Factor II (prothrombin) disorders are rare. (msdvetmanual.com)
  • Prothrombin time results are impacted by prothrombin protein deficiency. (flebo.in)
  • Prothrombin (Factor II). (labpedia.net)
  • The deficiency of prothrombin will delay thrombin formation, leading to hemorrhagic symptoms. (labpedia.net)
  • 2020. 12, 3286. (otago.ac.nz)
  • The prevalence of chronic energy deficiency in reproductive-aged women will be reduced to 15% by 2010 and less than 12% by 2020. (who.int)
  • The prevalence of overweight and obesity in adults will be controlled to a rate of less than 8% by 2010 and will increase to no more than 12% by 2020. (who.int)
  • A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient. (medscape.com)
  • To conclude, ID is still a public health problem in Morocco highlighting the necessity to implement effective national program, including efficient salt iodization, effective nutritional education and awareness, to control iodine deficiency and prevent IDD development. (who.int)
  • However, because of such factors as nutritional deficiencies, underfunded, lower-performing K-12 systems, and the destruction of the social safety net, the disadvantaged category now often includes students with severe cognitive and behavioral problems who come to community colleges because there is nowhere else for them to. (wsws.org)
  • [2] Vegans can experience B12 dietary deficiencies, but vegans can look for plant based sources of B12, including nutritional yeast, fortified foods, and B12 supplements. (naturalfactors.com)
  • Iron deficiency is the most common known form of nutritional deficiency. (cdc.gov)
  • The factors contributing to poor diets are limited financial resources and lack of access to health care and nutritional supplements. (americares.org)
  • environmental as well as nutritional factors playing a role [ 10-12 ]. (who.int)
  • 3. In Africa, nutritional problems in infants and young children occur in a context characterized by factors such as the prevalent low birth weight, household food insecurity, inappropriate infant and young child feeding practices, including the absence of food safety and hygiene, and inadequate intake of proteins and energy foods. (who.int)
  • 4. Over the past decade, the international community has intensified actions to fight against all these nutritional deficiencies. (who.int)
  • Consequently, different nutritional deficiency-related diseases are affecting millions of infants and young children. (who.int)
  • In 1998, 16 million deaths were caused by communicable diseases, maternal and perinatal conditions, childhood infections, tobacco-related illness and nutritional deficiencies. (who.int)
  • Mitterstieler G, Muller W, Geir W. Congenital factor V deficiency. (medscape.com)
  • Shirzadi M, Radfar AH, Dehghani M. Recurrent miscarriage in a woman with congenital factor V deficiency: a case report. (medscape.com)
  • Factor XII, also known as Hageman factor, is indicated when factor XII deficiency is suspected. (medscape.com)
  • Coagulation factor XII , also known as Hageman factor , is a plasma protein . (wikidoc.org)
  • Hageman factor was first discovered in 1955 when a routine preoperative blood sample of the 37-year-old railroad brakeman John Hageman (1918) was found to have prolonged clotting time in test tubes, even though he had no hemorrhagic symptoms. (wikidoc.org)
  • Hageman was then examined by hematologist Oscar Ratnoff , who found that Hageman lacked a previously unidentified clotting factor. (wikidoc.org)
  • [9] Ratnoff later found that the Hageman factor deficiency is an autosomal recessive disorder, after examining several related people who had the deficiency. (wikidoc.org)
  • This study was planned to evaluate the iodine status and the prevalence of iodine deficiency in a nationally representative sample of Moroccan WRA according to their socio-economic data and living areas. (who.int)
  • In the United States, the prevalence of iron-deficiency anemia among children declined during the 1970s in association with increased iron intake during infancy (1-3). (cdc.gov)
  • Different strategies may be needed to control deficiency of these nutrients in different regions of Cameroon. (ihsn.org)
  • Clinical deficiencies of nutrients may increase susceptibility to infections. (who.int)
  • But even if there is little variation in certain immune factors as claimed, there can be huge variations in other nutrients depending on what the mother eats. (westonaprice.org)
  • These data will be used to estimate deficiencies and toxicities of specific nutrients in the population and subgroups, to provide population reference data, and to estimate the contribution of diet, supplements, and other factors to serum levels of nutrients. (cdc.gov)
  • unlike the soft tissue bleeds and hemarthroses that characterize hemophilia A and B, abnormal bleeding in FXI deficiency typically involves mucosal tissues, which are rich in fibrinolytic activity (eg, the oral and nasal cavities and urinary tract). (medscape.com)
  • [6] As a result, the main concern related to factor XII deficiency is the unnecessary testing, delay in care, worry, etc. that may be prompted by the abnormal lab result. (wikidoc.org)
  • Mutations in the F10 -coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage. (karger.com)
  • Recent research clearly indicates that the underlying causes of autism are neurobiological disorders and combinations of different factors, such as environmental and genetic factors, and abnormality in the communication between neurons, probably associated with an abnormal set of neuropeptides in the brain [ 3 - 9 ]. (hindawi.com)
  • 2011-08-16 · Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. (firebaseapp.com)
  • The Eastern Mediterranean Region is experiencing a nutrition transition, characterized by the emergence of overnutrition and micro-nutrient deficiencies. (who.int)
  • Each year, micro-nutrient deficiencies take a heavy toll on infants and young children. (who.int)
  • Factor XII, factor XI, high-molecular-weight kininogen (HK), and prekallikrein (PK) are referred to as the contact factors. (medscape.com)
  • [6] All of this, including the mechanism of inheritance, also holds true for the other contact factors, prekallikrein (Fletcher factor) and high molecular weight kininogen . (wikidoc.org)
  • Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. (medlineplus.gov)
  • Factor XII deficiency is a rare inherited disorder. (medlineplus.gov)
  • Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. (medscape.com)
  • Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation. (medscape.com)
  • Alsheikh S, Alghamdi R, Alqatari A, Alfareed A, AlSaleh M. Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings. (medscape.com)
  • The heterozygous variants p.Ser362Asn or p.Tyr384Ter indicate mild FX deficiency, but the compound heterozygous mutation of the two causes severe congenital FX deficiency and bleeding. (karger.com)
  • Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor XI. (wikipedia.org)
  • FXI remains on the surface and activates factor IX in plasma. (medscape.com)
  • Contact activation involves both protein-protein and protein-surface interactions that activates factor XII. (medscape.com)
  • Factor XIIa activates factor XI, which in turn leads to the activation of factor IX. (medscape.com)
  • Kallikrein activates factor XII, which, then initiates fibrinolysis by causing activation urokinase. (medscape.com)
  • Factor XII is part of the coagulation cascade and activates factor XI and prekallikrein in vitro. (wikidoc.org)
  • Contact to polyphosphates activates factor XII and initiates fibrin formation by the intrinsic pathway of coagulation with critical importance for thrombus formation. (wikidoc.org)
  • Afibrinogenemia is defined as a deficiency or absence of fibrinogen (coagulation factor I) in the blood. (medscape.com)
  • Acquired fibrinogen deficiency can be associated with several clinical conditions including excessive blood loss in the setting of surgery, trauma or postpartum hemorrhage, hemodilution from from massive transfusion, liver disease, increased consumption in the setting of cancer, DIC or tPA therapy, or assay interference with direct or other thrombin inhibitors. (medscape.com)
  • Fibrinogen (Factor 1). (labpedia.net)
  • Fibrinogen (factor I) converts to Fibrin. (labpedia.net)
  • Coagulation factors interact on platelet and endothelial cell surfaces to produce thrombin , which converts fibrinogen to fibrin. (msdmanuals.com)
  • The condition is of importance in the differential diagnosis to other bleeding disorders, specifically the hemophilias: hemophilia A with a deficiency in factor VIII or antihemophilic globulin, hemophilia B with a deficiency in factor IX (Christmas disease), and hemophilia C with a deficiency in factor XI. (wikipedia.org)
  • Zheng C, Zhang B. Combined deficiency of coagulation factors V and VIII: an update. (medscape.com)
  • Antihemophilic factor (Factor VIII). (labpedia.net)
  • What is folate deficiency anemia? (naturalnews.com)
  • Folate deficiency is often caused by not consuming enough foods that contain folate. (naturalnews.com)
  • However, even those who eat balanced diets have the potential of developing folate deficiency. (naturalnews.com)
  • Folate deficiency is much more common in older people , affecting one in 10 people aged 75 and above. (naturalnews.com)
  • However, the symptoms of folate-deficiency anemia may be similar to other blood conditions or health problems. (naturalnews.com)
  • People who already have folate-deficiency anemia may need to increase their dietary intake of folic acid , whether it's through their actual diet or supplementation. (naturalnews.com)
  • Pregnant women, in particular, should avoid drinking alcohol before and during pregnancy to reduce the risk of folate deficiency. (naturalnews.com)
  • Patients with exogenous immunosuppres- consideration of underlying host genetic factors. (cdc.gov)
  • Venous thrombosis is a multifactorial disease frequently related to the interaction of genetic and environmental risk factors. (intechopen.com)
  • Genetic analysis of these two mutations may help characterize the bleeding tendency and confirm congenital FX deficiency. (karger.com)
  • LABOGenetics XXL Cat provides you with extensive information on genetic diseases and risk factors as well as on coat colours and traits. (labogen.com)
  • Numerous genetic, acquired, and environmental factors can tip. (msdmanuals.com)
  • FXII deficiency tends to be identified during presurgical laboratory screening for bleeding disorders. (wikipedia.org)
  • Ragni MV. Hemorrhagic disorders: coagulation factor deficiencies. (medlineplus.gov)
  • Etiologically, nonplatelet hemostatic disorders can be divided those involving coagulation factors and those involving vascular aspects of hemostasis. (medscape.com)
  • Iodine deficiency disorders (IDD) affects nearly 1.9 million people worldwide. (who.int)
  • Most of the congenital coagulation protein disorders reported in domestic animals are deficiencies or abnormalities of a single factor. (msdvetmanual.com)
  • Bleeding disorder refers to a heterogenous group of diseases caused by deficiencies in platelet function or coagulation factors. (ghcgenetics.com)
  • Factor XIII deficiency is a congenital disorder that is inherited as an autosomal recessive trait and is associated with a variable bleeding tendency Acquired factor XIII deficiency is associated with liver failure, inflammatory bowel disease, leukemia, disseminated intravascular coagulation, Henoch-Schonlein purpura, systemic lupus erythematosus and exposure to certain drugs (phenytoin People with congenital (or inherited) factor XIII deficiency are born with low levels of factor XIII in the blood. (firebaseapp.com)
  • Congenital factor XIII deficiency is very rare, affecting only 1 in 2 million people - about 100-125 people in the US. (firebaseapp.com)
  • Deficiency of factor XIII during and after CPB has been described, although the importance of this finding is uncertain. (firebaseapp.com)
  • 143-146 Supplementation with human or recombinant factor XIII has been demonstrated to reduce bleeding after adult heart surgery, although possibly only in the presence of factor deficiency. (firebaseapp.com)
  • ous attempt to detect and remedy their difficulties or their deficiencies if these Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS Simulations of the Structure and Dynamics of Transcription Factor-DNA Recognition Inhibitors of Human Carbonic Anhydrase Isozymes I, II, VII, IX, XII, and XIII. (firebaseapp.com)
  • Factor XIII deficiency is a rare bleeding disorder. (firebaseapp.com)
  • Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. (firebaseapp.com)
  • Factor XIII Deficiency Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A (2)B (2)) that is converted into an active transglutaminase (FXIIIa) by thrombin and Ca (2+) in the terminal phase of the clotting cascade. (firebaseapp.com)
  • Factor XIII(a) crosslinking of fibrin α-chains mediates RBC retention in venous thrombi, and consequently, thrombus size. (zedira.com)
  • Factor XIII (FXIII) is a protransglutaminase that, once activated to FXIIIa, crosslinks fibrin and other proteins to the clot. (zedira.com)
  • Fibrin-stabilizing factor (Factor XIII). (labpedia.net)
  • Protamine sulfate down-regulates thrombin generation by inhibiting factor V activation. (medscape.com)
  • FXI is a zymogen, and when activated by factor XIIa or thrombin or when it is autoactivated, FXI becomes a trypsinlike serine protease. (medscape.com)
  • Options include factor replacement with fresh frozen plasma, antifibrinolytic therapy with tranexamic acid, and fibrin glue. (medscape.com)
  • Platelet polyphosphate-driven factor XII activation provides the link from primary hemostasis (formation of a platelet plug ) to secondary hemostasis (fibrin meshwork formation). (wikidoc.org)
  • Some patients with dysfibrinogenemia have additional hemostasis defects, including factor V Leiden and deficiencies in antithrombin, protein C, and protein S. (medscape.com)
  • Factor V Leiden and Ischemic Stroke Risk: The Genetics of Early Onset Stroke (GEOS) Study. (medscape.com)
  • Known hereditary thrombophilia (Factor V Leiden, Protein C/ S deficiency, anti-phospholipid or anti-cardiolipin antibodies) k. (who.int)
  • Duckers C, Simioni P, Rosing J, Castoldi E. Advances in understanding the bleeding diathesis in factor V deficiency. (medscape.com)
  • No bleeding diathesis is associated with its deficiency. (medscape.com)
  • Complement factor I is a serine protease present in human plasma that is involved in the degradation of complement protein C3b, which is a major opsonin of the complement system. (hindawi.com)
  • Factor I cleaves C3b and C4b in a reaction, where fI is dependent on various cofactors, such as factor H, C4b-binding protein CR1 and membrane cofactor protein (MCP) [ 26 ]. (hindawi.com)
  • Type I deficiency is a quantitative defect resulting from decreased synthesis of the protein, whereas type II deficiency is characterized by a normal or near‐normal concentration of functionally defective FXIII‐A. Untreated, severe congenital FXIII‐A deficiency causes severe bleeding events in the majority of cases, with intracranial hemorrhage being the major cause of death. (firebaseapp.com)
  • The coagulation defect in plasma from these patients was corrected on mixing with plasma from patients with hemophilia, indicating that these patients lacked a factor different from those involved in hemophilia. (medscape.com)
  • [ 1 ] This disorder was found in both sexes and was understood to be inherited but was identified as being a less severe abnormality than that observed with hemophilia A and B. Hence, older terms for this disorder included Rosenthal syndrome, PTA deficiency, and hemophilia C. (medscape.com)
  • Factor XII does play an important role in clot formation during in vitro measurements of the partial thromboplastin time , which causes these measurements to be markedly prolonged in patients with factor XII deficiency, usually well beyond even what is seen in hemophilia A, hemophilia B, or factor XI deficiency. (wikidoc.org)
  • 26 May 2018 Factor XI Deficiency is a genetically inherited disease that's a form of hemophilia. (firebaseapp.com)
  • [ 2 ] This is reflected in the fact that individuals who are deficient in any of these factors do not have a hemorrhagic diathesis, even after significant trauma or surgery. (medscape.com)
  • No hemorrhagic diathesis is associated with congenital factor XII deficiency. (medscape.com)
  • The patient's factor X level recovered after two weeks of discharge with no other hemorrhagic episodes. (mdpi.com)
  • The acquired form of FXII deficiency is seen in patients with the nephrotic syndrome, liver disease, sepsis and shock, disseminated intravascular coagulation, and other diseases. (wikipedia.org)
  • Factor I deficiency can be conferred by a C3 deficiency, since this also increases susceptibility to pyogenic infections by Neisseria meningitides, Haemophilus influenza, and Streptococcus pneumonia and increases the incidence of immune complex diseases due to impaired complement-mediated function [ 30 ]. (hindawi.com)
  • Background: The adipocyte products, leptin and tumour necrosis factor (TNF)alpha are associated with atherosclerotic diseases and may be factors contributing to the enhanced cardiovascular risk in hypopituitary patients with growth hormone (GH) deficiency. (lu.se)
  • Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. (nih.gov)
  • Congenital afibrinogenemia (Factor I deficiency) has been reported in a family of Saanen dairy goats but not in dogs or cats. (msdvetmanual.com)
  • In the past three decades, increased iron intake among infants has resulted in a decline in childhood iron-deficiency anemia in the United States. (cdc.gov)
  • In addition, 42 percent of infants between 12 and 17 months suffer from anemia, which is caused by iron deficiency. (americares.org)
  • This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. (nih.gov)
  • On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. (nih.gov)
  • It is the zymogen form of factor XIIa, an enzyme ( EC 3.4.21.38 ) of the serine protease (or serine endopeptidase) class. (wikidoc.org)
  • Factor XII itself is activated to factor XIIa by negatively charged surfaces, such as glass. (wikidoc.org)
  • citation needed] While it is indicated that people with FXII deficiency are generally asymptomatic, studies in women with recurrent miscarriages suggest an association with FXII deficiency. (wikipedia.org)
  • citation needed] There is concern that individuals with FXII deficiency are more prone to thrombophilic disease, however, this is at variance with a long-term study from Switzerland. (wikipedia.org)
  • Inherited or congenital FXII deficiency is usually passed on by autosomal recessive inheritance. (wikipedia.org)
  • citation needed] In persons with congenital FXII deficiency the condition is lifelong. (wikipedia.org)
  • In congenital FXII deficiency treatment is not necessary. (wikipedia.org)
  • In acquired FXII deficiency the underlying problem needs to be addressed. (wikipedia.org)
  • Since then, case studies and clinical studies identified an association between thrombosis and Factor XII deficiency. (wikidoc.org)
  • In a severe deficiency or functional defect of coagulation proteins, clinical signs appear at an early age. (msdvetmanual.com)
  • Factor XIIIa: novel target for anticoagulation? (zedira.com)
  • Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. (firebaseapp.com)
  • 5 These observations were consistent with the "excessive red cell fallout" reported many years ago in a study of a family with congenital FXIII deficiency 7 , and suggested a previously-unrecognized role for FXIII(a) in mediating clot composition. (zedira.com)
  • Since whole blood clots from mice with full or even partial (heterozygous) deficiency of the FXIII catalytic A subunit show similarly increased extrusion of RBCs during clot contraction5, these mice provided an experimental model to investigate the contribution of FXIII to VTE in vivo. (zedira.com)
  • [6] Unlike other clotting factor deficiencies, factor XII deficiency is totally asymptomatic and does not cause excess bleeding. (wikidoc.org)
  • Factor XII deficiency is a rare disorder that is inherited in an autosomal recessive manner. (wikidoc.org)
  • Diagram from the traditional cascade-waterfall model of coagulation shows the place of factor XI in the intrinsic pathway, which leads to the common pathway. (medscape.com)
  • Intrinsic Factor" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
  • This graph shows the total number of publications written about "Intrinsic Factor" by people in this website by year, and whether "Intrinsic Factor" was a major or minor topic of these publications. (uchicago.edu)
  • Below are the most recent publications written about "Intrinsic Factor" by people in Profiles. (uchicago.edu)
  • The study aims to quantify bioavailability of iron from NaFeEDTA when added to a wheat flour-based meal in both nonanemic women and women with iron deficiency anemia, when consumed with and without traditional Moroccan green tea. (who.int)
  • It concludes that fractional iron absorption from wheat flour-based meals without and with tea was ∼2-fold higher in women with iron deficiency anemia than in nonanemic women. (who.int)
  • Providing fortificant iron as NaFeEDTA cannot overcome the inhibition of tea polyphenols on iron absorption, even in iron deficiency anemia, where iron absorption is strongly upregulated. (who.int)
  • As a consequence, the use of screening tests for anemia has become a less efficient means of detecting iron deficiency in some populations. (cdc.gov)
  • These recommendations update the 1989 'CDC Criteria for Anemia in Children and Childbearing-Aged Women' (MMWR 1989;38(22):400-4) and are the first comprehensive CDC recommendations to prevent and control iron deficiency. (cdc.gov)
  • Because of this decline, the value of anemia as a predictor of iron deficiency has also declined, thus decreasing the effectiveness of routine anemia screening among children. (cdc.gov)
  • CDC requested the Institute of Medicine to convene an expert committee to develop recommendations for preventing, detecting, and treating iron-deficiency anemia among U.S. children and U.S. women of childbearing age. (cdc.gov)
  • The plasma glycoprotein factor I (C3b/C4b inactivator) is a serine protease that acts as a regulator of the complement C3 cascade. (hindawi.com)
  • Factor X plays a central role in the coagulation cascade, and is the first enzyme in the common pathway of thrombus formation [ 1 ]. (mdpi.com)
  • The anticoagulant function of coagulation factor V. Thromb Haemost . (medscape.com)
  • A mixing study was performed to eliminate the presence of coagulation factor inhibitors and lupus anticoagulant. (karger.com)
  • As a result, people could develop a deficiency quickly if they don't eat enough folate-rich foods or they have an underlying condition that affects their absorption. (naturalnews.com)
  • To explore the correlations between symptom-based principal factors of rheumatoid arthritis (RA) and the effect of traditional Chinese medicine or Western medicine on RA after factor analysis of RA symptoms. (jcimjournal.com)
  • Eighteen symptoms in the RA patients were analyzed by factor analysis and the relationships between the factors and effects were analyzed with Chi-Square test. (jcimjournal.com)
  • Four principal factors were obtained from the analysis results of the 18 symptoms. (jcimjournal.com)
  • The factors could represent the symptoms related to joints, cold-syndrome, deficiency syndrome and heat-syndrome in traditional Chinese medicine (TCM),respectively. (jcimjournal.com)
  • The results based on the factor analysis of RA symptoms are similar to the results of syndrome differentiation of TCM, and the factor-related different categories of symptoms are associated with the curative effect, thus further research on the symptoms is necessary. (jcimjournal.com)
  • FXI deficiency can manifest as an incidental laboratory abnormality-for example, when a preoperative workup for elective surgery reveals an unexpected prolongation of the activated partial thromboplastin time (aPTT). (medscape.com)
  • [ 3 ] They identified the abnormality as a deficiency in a clotting factor, which they termed plasma thromboplastin antecedent (PTA). (medscape.com)
  • Iodine deficiency (ID) remains a public health concern not only for pregnant women, but for women of reproductive age (WRA) as well. (who.int)
  • He had a history of hypertension, schizophrenia, hypothyroidism and factor XII deficiency. (biomedcentral.com)
  • Excess levels of factor XII can predispose individuals towards greater risk of venous thrombosis due to factor XII's role as one of the catalysts for conversion of plasminogen to its active fibrinolytic form of plasmin . (wikidoc.org)
  • At this time a heparin infusion was initiated given the patient's known factor XII deficiency and demonstrated mesenteric venous thrombosis. (biomedcentral.com)
  • Deficiency in factor I activity is associated with an increased incidence of infections in humans. (hindawi.com)
  • Factor XII, HK, and PK are necessary for a normal aPTT, but they do not appear to be required for normal hemostasis. (medscape.com)
  • Targeted deletion of factor XII in a mouse model does not impair hemostasis but does result in reduced generation of inflammatory mediators. (medscape.com)
  • [ 7 ] Therefore, activation of the contact factors plays a much bigger role in thrombosis than hemostasis. (medscape.com)
  • Monroe DM HM, Roberts HR. Molecular Biology and Biochemistry of the Coagulation Factors and Pathways of Hemostasis. (medscape.com)
  • This gene encodes coagulation factor XII which circulates in blood as a zymogen. (nih.gov)
  • In vivo, factor XII is activated by contact to polyanions. (wikidoc.org)
  • Addition of polyphosphates restored defective plasma clotting of Hermansky-Pudlak syndrome patients, indicating that the inorganic polymer is the endogenous factor XII activator in vivo. (wikidoc.org)
  • During January-March 2014, we reviewed risk factors CMRs were lower, but still substantial, for patients receiv- for dissemination and summarized all coccidioidomycosis ing steroids (https://www.niaid.nih.gov/sites/default/files/ cases in patients with primary immunodeficiency (PID). (cdc.gov)
  • A good understanding of the possible risk factors for coronavirus disease 19 (COVID-19) severity could help clinicians in identifying patients who need prioritized treatment to prevent disease progression and adverse outcomes. (bvsalud.org)
  • Furthermore, the severity of infection was observed to increase with risk factors such as age, heart disease, hypertension, and DM eventually affecting COVID-19 prognosis and mortality. (bvsalud.org)
  • Later, male sex, obesity, and possessing naturally melanin-rich skin while living outside of the tropics came to be known as the highest risk factors after older age ( 2 p , 8 - 13 , 14 p , 15 , 16 ). (frontiersin.org)
  • PETTS was a prospective observational study of patients with MDR TB in 9 countries, studying risk factors for, and the consequences of acquired drug resistance in the treatment of MDR TB. (cdc.gov)