A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis.
A fibrin-stabilizing plasma enzyme (TRANSGLUTAMINASES) that is activated by THROMBIN and CALCIUM to form FACTOR XIIIA. It is important for stabilizing the formation of the fibrin polymer (clot) which culminates the coagulation cascade.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
The process which spontaneously arrests the flow of BLOOD from vessels carrying blood under pressure. It is accomplished by contraction of the vessels, adhesion and aggregation of formed blood elements (eg. ERYTHROCYTE AGGREGATION), and the process of BLOOD COAGULATION.
A method of tissue ablation and bleeding control that uses ARGON plasma (ionized argon gas) to deliver a current of thermocoagulating energy to the area of tissue to be coagulated.
The process of the interaction of BLOOD COAGULATION FACTORS that results in an insoluble FIBRIN clot.

Prenatal diagnosis in factor XIII-A deficiency. (1/39)

Congenital factor XIII deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. The condition is commonly due to absence of the factor XIII-A subunit protein in the plasma. The case of a baby is reported who showed typical clinical features of factor XIII-A deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage after circumcision. Family studies were performed and molecular analysis, using a Short Tandem Repeat (STR) marker closely linked to the A subunit gene, allowed antenatal exclusion diagnosis to be undertaken in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal period, particularly if the parents are consanguineous.  (+info)

Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. (2/39)

Two Japanese patients were newly diagnosed as having B subunit (XIIIB) deficiency of factor XIII (former type I deficiency). Both patients have a previously described one-base deletion at the boundary between intron A/exon II in the XIIIB gene, heterozygously or homozygously. A founder effect was proposed for this mutation because 3 unrelated patients with XIIIB deficiency also share 2 3'-polymorphisms. In one patient heterozygous for the above mutation, a novel mutation was also identified: a deletion of guanosine in exon IX (delG) of the XIIIB gene. To understand the molecular and cellular pathology of the delG mutation, expression studies were performed using a cultured mammalian cell line. Pulse-chase experiments showed that a resultant truncated XIIIB remained inside the cells and could not be secreted into the culture medium. Furthermore, immunocytochemical examinations by epifluorescence, confocal, and electron microscopes indicated impaired intracellular transportation of the truncated XIIIB from the endoplasmic reticulum to the Golgi apparatus. No mutations in the gene for the A subunit (XIIIA) were identified in this patient. Therefore, secretion of the truncated XIIIB must also be impaired in vivo, leading to a secondary XIIIA deficiency. These results support a previous conclusion that genetic defects of XIIIB are the basis for the former type I factor XIII deficiency.  (+info)

Increased risk for postoperative hemorrhage after intracranial surgery in patients with decreased factor XIII activity: implications of a prospective study. (3/39)

BACKGROUND AND PURPOSE: The functional integrity of the hemostatic system is a prerequisite for the safe performance of neurosurgical procedures. To monitor the individual coagulation capacity of each patient, standard tests are effective to detect deficiencies involving the generation of fibrin. However, fibrin clot strength depends primarily on coagulation factor XIII, which cross-links fibrin monomers and enhances clot resistance against fibrinolysis. Therefore, factor XIII is functionally involved in both the hemostatic and fibrinolytic systems. The objective of this prospective study was to determine the incidence and clinical relevance of perioperative decreased factor XIII with respect to standard coagulation parameters and the occurrence of postoperative hematoma. METHODS: In 876 patients, 910 neurosurgical procedures were performed. Prothrombin time (PT), partial thromboplastin time (PTT), platelet count, fibrinogen, and factor XIII were tested in each patient preoperatively and postoperatively. RESULTS: Postoperative intracranial hematoma (defined as requiring surgical evacuation) occurred after 39 (4.3%) of 910 surgical procedures. Patients with postoperative hematoma had significantly lower factor XIII and fibrinogen levels preoperatively and postoperatively than patients without hematoma. In patients with postoperative hematoma, PT and platelets differed significantly only postoperatively, whereas PTT was different neither preoperatively nor postoperatively. Of the 39 patients with a postoperative hematoma, 13 (33.3%) had a postoperative factor XIII <60% compared with 61 (7%) of 867 patients without hematoma (P<0.01, Fisher's exact test). The relative risk of developing a postoperative hematoma is therefore increased 6.4-fold in patients with postoperative factor XIII <60%. The risk is increased 12-fold in patients who additionally have postoperative decreased fibrinogen levels (<1.5 g/L) and 9-fold in patients with platelet count <150x10(9)/L and factor XIII <60%. CONCLUSIONS: This is the first prospective study that demonstrates the association of decreased perioperative factor XIII with an increased risk of postoperative hematoma in neurosurgical patients. The risk is further increased in those patients with low factor XIII and additional abnormalities of fibrinogen, PT, platelets, and PTT. Factor XIII testing and specific replacement, as accepted for other clotting factors, may reduce the risk of postoperative hematoma.  (+info)

Factor XIII A subunit-deficient mice developed severe uterine bleeding events and subsequent spontaneous miscarriages. (4/39)

To understand the molecular pathology of factor XIII (FXIII) deficiency in vivo, its A subunit (FXIIIA)-knockout (KO) mice were functionally analyzed. Although homozygous FXIIIA female KO mice were capable of becoming pregnant, most of them died due to excessive vaginal bleeding during gestation. Abdominal incisions revealed that the uteri of the dead mice were filled with blood and that some embryos were much smaller than others within a single uterus. A series of histologic examinations of the pregnant animals suggested that massive placental hemorrhage and subsequent necrosis developed in the uteri of the FXIIIA KO mice on day 10 of gestation. This was true regardless of the genotypes of fetuses. These results are reminiscent of spontaneous miscarriage in pregnant humans with FXIII deficiency and indicate that maternal FXIII plays a critical role in uterine hemostasis and maintenance of the placenta during gestation.  (+info)

Identification of a point mutation in factor XIII A subunit deficiency. (5/39)

Oligonucleotide primers have been designed for the amplification of all 15 exons of the human coagulation factor XIII A subunit gene. Each exon and its intron flanking regions has been amplified and sequenced from a patient with severe A subunit deficiency. A single G to A transition in the last base of exon 14 has been identified in the homozygous proband and in his heterozygous parents. The mutation would result in the substitution 681 Arg to His in the mature protein product. However, because the mutation is at a splice junction, the deficiency may result from a defect in pre-messenger RNA splicing.  (+info)

Factor XIII deficiency: a rare cause of repeated abortions. (6/39)

Factor XIII deficiency is a rare cause of early abortion. The obstetrical outcome of four pregnancies in two women with factor XIII deficiency is reported. Both women were treated with substitution therapy using locally-prepared cryoprecipitate. The outcome in these two women demonstrated the need for substitution therapy in early pregnancy leading to an increased chance of obstetrical success.  (+info)

Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (7/39)

We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide 979C-->T corresponding to Arg326Stop; and nucleotide 2075G-->A corresponding to Trp691 Stop), one novel deletion of a single nucleotide (nucleotide 708G or 709G), one previously reported missense mutation (nucleotide 888C-->G corresponding to Ser295Arg), and a previously reported splice site mutation (nucleotide 319G-->T at the last position of exon 3). The phenotypic consequences of these mutations are discussed.  (+info)

Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. (8/39)

A congenital deficiency of the coagulation Factor XIII A subunit (F XIII A) is a rare autosomal recessive disorder that is characterized by a life-long bleeding tendency complicated by a difficulty in healing. Thus far, no molecular genetic analysis of this disorder has been reported. In this study, we demonstrate the molecular abnormalities in a family with this disorder. We performed Northern blot analysis of peripheral blood monocytes obtained from the propositus and found a 4-kb single band of F XIII A mRNA whose size was identical with that of normal subjects. Exons II-XV, which encode all the amino acids, were individually amplified by a polymerase chain reaction (PCR). All PCR products from the propositus had lengths indistinguishable from those of the wild type on agarose gel, suggesting that this defect results from either a point mutation or a short deletion/insertion. The sequencing of F XIII A cDNA from the propositus revealed a deletion of the dinucleotide AG within the AGAG repeat at the position of 210 to 213. Concerning the genomic sequence, a deletion of dinucleotide AG was also demonstrated in the intron B-exon III boundary. This deletion appeared to cause a frameshift mutation making a new stop codon shortly thereafter, and leading to a deficiency of plasma F XIII A. The heterozygosity of the F XIII A deficiency in the patient's offspring was documented by the nucleotide sequences of their exon III.  (+info)

Factor XIII deficiency, also known as fibrin stabilizing factor deficiency, is a rare bleeding disorder caused by a lack or dysfunction of Factor XIII, a protein involved in the final stage of blood clotting. This deficiency results in impaired clot stability and increased risk of bleeding. Symptoms can include umbilical cord bleeding at birth, prolonged bleeding after circumcision, easy bruising, nosebleeds, muscle bleeds, gastrointestinal bleeds, and excessive menstrual bleeding. Treatment typically involves replacement of the missing Factor XIII through injections, either prophylactically or on-demand to manage bleeding episodes.

Factor XIII, also known as fibrin stabilizing factor, is a protein involved in the clotting process of blood. It is a transglutaminase enzyme that cross-links fibrin molecules to form a stable clot. Factor XIII becomes activated during the coagulation cascade, and its activity helps strengthen the clot and protect it from premature degradation by proteolytic enzymes. A deficiency in Factor XIII can lead to a bleeding disorder characterized by prolonged bleeding after injury or surgery.

The Survival Motor Neuron (SMN) complex is a protein complex that plays a crucial role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential components of the spliceosome involved in pre-messenger RNA (pre-mRNA) splicing. The SMN complex consists of several proteins, including the SMN protein itself, Gemins2-8, and unrip.

The SMN protein is the central component of the complex and is encoded by the SMN1 gene located on chromosome 5q13.2. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.

The SMN complex assembles in the cytoplasm and facilitates the assembly of spliceosomal snRNPs by helping to load Sm proteins onto small nuclear RNA (snRNA) molecules. Proper functioning of the SMN complex is essential for the correct splicing of pre-mRNA, and its dysfunction can lead to various developmental abnormalities and diseases, including SMA.

Hemostasis is the physiological process that occurs to stop bleeding (bleeding control) when a blood vessel is damaged. This involves the interaction of platelets, vasoconstriction, and blood clotting factors leading to the formation of a clot. The ultimate goal of hemostasis is to maintain the integrity of the vascular system while preventing excessive blood loss.

Argon Plasma Coagulation (APC) is a medical procedure that uses ionized argon gas to deliver electrical current and heat to tissue, resulting in coagulation. It is commonly used in the treatment of gastrointestinal bleeding, as well as for cutting and coagulating during surgical procedures. The argon plasma is created by passing argon gas through a high-voltage electrical field, which ionizes the gas and creates a highly precise and controllable plasma beam. This beam can be directed at the tissue to achieve hemostasis (stopping bleeding) or to cut tissue with minimal thermal damage to surrounding structures. The procedure is often performed under endoscopic guidance.

Blood coagulation, also known as blood clotting, is a complex process that occurs in the body to prevent excessive bleeding when a blood vessel is damaged. This process involves several different proteins and chemical reactions that ultimately lead to the formation of a clot.

The coagulation cascade is initiated when blood comes into contact with tissue factor, which is exposed after damage to the blood vessel wall. This triggers a series of enzymatic reactions that activate clotting factors, leading to the formation of a fibrin clot. Fibrin is a protein that forms a mesh-like structure that traps platelets and red blood cells to form a stable clot.

Once the bleeding has stopped, the coagulation process is regulated and inhibited to prevent excessive clotting. The fibrinolytic system degrades the clot over time, allowing for the restoration of normal blood flow.

Abnormalities in the blood coagulation process can lead to bleeding disorders or thrombotic disorders such as deep vein thrombosis and pulmonary embolism.

"Recombinant Factor XIII". 2010. "Factor XIII". 2014-03-05. Muszbek, Laszlo; et al. (1999). "Blood coagulation factor XIII: ... Factor XIII Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al. (2015). "Factor XIII Deficiency in ... "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 ...
Deficiency of factor XIII (a rare genetic condition) predisposes to hemorrhage; concentrated enzyme can be used to correct the ... Examples are blood clots (coagulation factor XIII), skin, and hair. The catalytic reaction is generally viewed as being ... The exact biochemical activity of transglutaminases was discovered in blood coagulation protein factor XIII in 1968. Nine ... doi:10.1016/0003-9861(59)90413-8. Pisano JJ, Finlayson JS, Peyton MP (May 1968). "[Cross-link in fibrin polymerized by factor ...
Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B ... the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. ... Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a ... Adány R (1997). "Intracellular factor XIII: cellular distribution of factor XIII subunit a in humans". Semin. Thromb. Hemost. ...
... Deficiency is also known as Laki-Lorand factor, after Kalman Laki and Laszlo Lorand, the scientists who first ... Factor XIII is a transglutaminase that circulates in human blood as a heterotetramer of two A and two B subunits. Factor XIII ... Factor XIIIa is an enzyme of the blood coagulation system that crosslinks fibrin. Deficiency of XIII worsens clot stability and ... Deficiency of Factor XIII (FXIIID), while generally rare, does occur, with Iran having the highest global incidence of the ...
... congenital factor XIII A-subunit deficiency, which is a kind of Factor XIII deficiency. The medication prevents bleeding in ... a breakthrough in the treatment of congenital factor XIII A-subunit deficiency?". J Blood Med. 5: 107-13. doi:10.2147/JBM. ... "Blood-coagulation factor XIII". Drug Information Portal. U.S. National Library of Medicine. Portal: Medicine v t e (Webarchive ... Catridecacog, sold under the brand name Tretten in the US and NovoThirteen in the EU) is a class of recombinant factor XIII A- ...
However, on 25 April, he abruptly announced his retirement, citing Factor XIII deficiency, a rare blood disorder. He was ... 13 June 2014. Retrieved 19 January 2015. "UFC Fight Night 46 results: Paddy Holohan submits Josh Sampo". Cage Pages. 19 July ...
"Effect of Social Factors on the Highest Global Incidence of Factor XIII Deficiency in Southeast of Iran". Archives of Iranian ... Khash also is the point of origin for the abnormally high incidence of Factor XIII deficiency, an extremely serious genetic ...
Notably, deficiencies in factors VII or XIII will not be detected with the PTT test.[citation needed] Prolonged aPTT may ... Deficiencies of factors VIII, IX, XI and XII and rarely von Willebrand factor (if causing a low factor VIII level) may lead to ... coagulation factor deficiency (e.g., hemophilia) sepsis - coagulation factor consumption presence of antibodies against ... antiphospholipid antibodies or coagulation factor specific inhibitors), while if it does disappear a factor deficiency is more ...
... with Factor XIII deficiencies display impairment in wound healing as fibroblasts don't grow well in fibrin lacking Factor XIII ... covalently cross-linked to fibrin with the help of Factor XIII (fibrin-stabilizing factor). Fibroblasts play a major role in ... Martin JA, Miller BA, Scherb MB, Lembke LA, Buckwalter JA (July 2002). "Co-localization of insulin-like growth factor binding ... Gui Y, Murphy LJ (May 2001). "Insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) binds to fibronectin (FN): ...
Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B ... the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. ... Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a ... 1990). "A familial factor XIII subunit B deficiency". Br. J. Haematol. 74 (3): 290-4. doi:10.1111/j.1365-2141.1990.tb02585.x. ...
... of ROTEM clot stabilization kinetics in a patient with severe factor XIII deficiency after administration of factor XIII ... In contrast to standard clotting tests, the fibrin-stabilizing effect of factor XIII contributes to the result. The rapid ... Prolongation of CT may be a result of coagulation deficiencies, primarily coagulation factors, or heparin (dependent on the ... The sensitivity for coagulation factor deficiencies, including those induced by oral anticoagulation, is less pronounced as ...
Hemophilia A 286.1 Hemophilia B 286.2 Hemophilia C 286.3 Congenital deficiency of other clotting factors Factor XIII deficiency ... 280 Iron deficiency anemias 280.0 Iron deficiency anemia secondary to blood loss (chronic) 280.1 Iron deficiency anemia ... unspecified 281 Other deficiency anemias 281.0 pernicious anemia 281.2 Anemia, folate deficiency 281.3 Other specified ... Hemorrhagic disorder due to intrinsic anticoagulants 286.6 Defibrination syndrome 286.7 Acquired coagulation factor deficiency ...
... factor, which is involved in platelet activation. Deficiencies in other factors, such as factor XIII or factor VII are ... For instance, deficiency of Factor VIII causes classic hemophilia A while deficiencies of Factor IX cause "Christmas disease"( ... Deficiencies of platelet function may require platelet transfusion while deficiencies of clotting factors may require ... Deficiencies of coagulation factors are associated with clinical bleeding. ...
For example, factor X deficiency may be seen in amyloidosis, where factor X is adsorbed to the amyloid fibrils in the ... Factor X is activated, by hydrolysis, into factor Xa by both factor IX (with its cofactor, factor VIII in a complex known as ... The result is a Factor VIIa/TF complex, which catalyzes the activation of Factor X and Factor IX. Factor Xa formed on the ... Factor XIa activates free Factor IX on the surface of activated platelets. The activated Factor IXa with Factor VIIIa forms the ...
... with Factor VIII or IX deficiency) who have developed antibodies against replacement coagulation factor. It has also been used ... the interface between factor Xa and tissue factor in the quaternary complex tissue factor-factor VIIa-factor Xa-tissue factor ... The complex of factor VIIa with TF catalyzes the conversion of factor IX and factor X into the active proteases, factor IXa and ... or blood-coagulation factor VIIa, activated blood coagulation factor VII), which in turn activates factor IX and factor X. ...
It is majorly associated with a complex I deficiency, a deficiency in the first complex of the mitochondrial respiratory chain ... "Complex I assembly factor TMEM126B, mitochondrial". www.uniprot.org. Retrieved 2018-07-27. Rhein VF, Carroll J, Ding S, ... A complex I deficiency involving the dysfunction of the mitochondrial respiratory chain may cause a wide range of clinical ... The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It ...
"The biochemical pathways of central nervous system neural degeneration in niacin deficiency". Neural Regeneration Research. 9 ( ... BDNF is a member of the neurotrophin family of growth factors, which are related to the canonical nerve growth factor (NGF), a ... Binder DK, Scharfman HE (September 2004). "Brain-derived neurotrophic factor". Growth Factors. 22 (3): 123-31. doi:10.1080/ ... "trkB encodes a functional receptor for brain-derived neurotrophic factor and neurotrophin-3 but not nerve growth factor". Cell ...
Deficiency of VWF can then lead to a reduction in factor VIII levels, which explains the elevation in PTT. Normal levels do not ... Factor VIII levels are also performed because factor VIII is bound to VWF which protects the factor VIII from rapid breakdown ... This is a deficiency of the binding of VWF to coagulation factor VIII. The VWF antigen test is normal, indicating normal ... It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required ...
"Nutritional Factors in Tooth Development". ADHA. Retrieved 2008-12-30. "Effect of Inorganic Fluoride on Living Organisms of ... Fluoride or fluorine deficiency is a disorder[dubious - discuss] which may cause increased dental caries and possibly ... Symptoms such as fractured hips in the elderly or brittle and weak bones may be caused by fluorine deficiency in the body.[ ... Mamelle, N; Meunier, PJ; Dusan, R; Guillaume, M; Martin, JL; Gaucher, A; Prost, A; Zeigler, G; Netter, P (13 August 1988). " ...
"Deficiency of fibroblast growth factor 21 (FGF21) promotes hepatocellular carcinoma (HCC) in mice on a long term obesogenic ... Badman, MK; Pissios, P; Kennedy, AR; Koukos, G; Flier, JS; Maratos-Flier, E (2007). "Hepatic fibroblast growth factor 21 is ... "Hepatic fibroblast growth factor 21 is regulated by PPARalpha and is a key mediator of hepatic lipid metabolism in ketotic ... "Fibroblast growth factor 21 (FGF21) is robustly induced by ethanol and has a protective role in ethanol associated liver injury ...
... allowing factor XI's protease activity on it. Deficiency of factor XI causes the rare hemophilia C; this mainly occurs in ... factor XII, factor XI, and factor IX). Factor XIa activates factor IX by selectively cleaving arg-ala and arg-val peptide bonds ... Factor IXa, in turn, forms a complex with Factor VIIIa (FIXa-FVIIIa) and activates factor X. Physiological inhibitors of factor ... "Activation of human blood coagulation factor XI independent of factor XII. Factor XI is activated by thrombin and factor XIa in ...
... congenital Factor X deficiency Factor XI deficiency, congenital Factor XIII deficiency, congenital Factor XIII deficiency ... II deficiency Factor V deficiency Factor V Leiden mutation Factor VII deficiency Factor VIII deficiency Factor X deficiency, ... 6-bisphosphatase deficiency Fructose-1-phosphate aldolase deficiency, heredita Fructosemia, hereditary Fructosuria Frydman- ... with nephrocalcinosis and renal stones Fanconi anemia Fara-Chlupackova syndrome Farber's disease Farmer's lung Fas deficiency ...
"Accumulation of apoplastic iron in plant roots: a factor in the resistance of soybeans to iron-deficiency induced chlorosis?." ... Her 1980 MSc titled 'Factors affecting iron uptake by iron-efficient and inefficient soybean varieties' and a 1986 PhD titled ' ... She and her research group examine factors that affect peoples' attitudes towards science-related issues. They also examine how ... "Factors affecting iron uptake by iron-efficient and inefficient soybean varieties" - via Open WorldCat. Longnecker, Nancy Ellen ...
Marlar RA, Griffin JH (1980). "Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease". The Journal of ... Deficiency of protein C inhibitor in the human body may cause male infertility. Protein C inhibitor has a role in reproduction ... Either deficiency or the presence of inactive protein C inhibitor can lead to male caused infertility. Protein C inhibitor has ... inhibiting several blood coagulation enzymes counting thrombin and factor Xa. In the beginning, protein C inhibitor(PCI) was ...
... deficiency is treated by injection of purified factor IX produced through cloning in various animal or animal cell ... and a Factor VIII cofactor, it hydrolyses one arginine-isoleucine bond in factor X to form factor Xa. Factor IX is inhibited by ... Deficiency of factor IX causes Christmas disease (hemophilia B). Over 3000 variants of factor IX have been described, affecting ... Zhong D, Bajaj MS, Schmidt AE, Bajaj SP (Feb 2002). "The N-terminal epidermal growth factor-like domain in factor IX and factor ...
... but deficiency remains a serious public health problem in the developing world. Iodine deficiency is also a problem in certain ... It is unknown if the thyroid gland is the rate-limiting factor in generating thyroid hormone from iodine and tyrosine, but ... A deficiency of thyroid hormones can reduce basal metabolic rate up to 50%, while an excessive production of thyroid hormones ... In turn, an excess of selenium increases demand for iodine, and deficiency will result when a diet is high in selenium and low ...
In the next two years, the same two groups showed that the congenital deficiency of a vWF-cleaving protease was associated with ... Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K (January 2002). "Von Willebrand factor-cleaving protease and ... Deficiency of ADAMTS13 was originally discovered in Upshaw Schulman Syndrome, the recurring familial form of thrombotic ... Kremer Hovinga JA, Studt JD, Lämmle B (2005). "The von Willebrand factor-cleaving protease (ADAMTS-13) and the diagnosis of ...
According to the Journal Citation Reports, the journal has a 2014 impact factor of 4.556, ranking it twelfth out of 78 journals ... Journal of acquired immune deficiency syndromes (accessed 24 October 2007) NLM Catalog: Journal of acquired immune deficiency ... The Journal of Acquired Immune Deficiency Syndromes is a peer-reviewed medical journal covering all aspects of research in HIV/ ... The journal was established in 1988 (ISSN 0894-9255). It was retitled Journal of Acquired Immune Deficiency Syndromes and Human ...
All these factors are currently believed to contribute to global reserve. Cognitive reserve is commonly used to refer to both ... Journal of Acquired Immune Deficiency Syndromes. 6 (5): 503-11. doi:10.1097/00126334-199305000-00011. PMID 8483113. Wilson RS, ... Studies use factors like education, occupation, and lifestyle as proxies for cognitive reserve because they tend to positively ... Due to the variety of the four lifestyle factors, a lot of different self-report-scales are used to specify the severity of ...
Another disease associated with deficiencies in the COP II pathway is combined factor V and factor VIII deficiency. In this ... Spreafico, Marta; Peyvandi, Flora (June 2009). "Combined Factor V and Factor VIII Deficiency". Seminars in Thrombosis and ... The mutation of the MCFD2 gene is what causes combined factor V and VIII deficiency. Treatment for the disease includes ... the person produces Factor V and VIII but they can not transport factor V or VIII into the bloodstream. This is an autosomal ...
"Recombinant Factor XIII". 2010. "Factor XIII". 2014-03-05. Muszbek, Laszlo; et al. (1999). "Blood coagulation factor XIII: ... Factor XIII Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al. (2015). "Factor XIII Deficiency in ... "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 XIII deficiency is a rare bleeding disorder. Explore symptoms, inheritance, genetics of this condition. ... Genetic Testing Registry: Factor XIII, b subunit, deficiency of *Genetic Testing Registry: Factor XIII, A subunit, deficiency ... The acquired form of factor XIII deficiency results when the production of factor XIII is reduced or when the body uses factor ... medlineplus.gov/genetics/condition/factor-xiii-deficiency/ Factor XIII deficiency. ...
Although acquired factor XIII deficiency has been described in association with hepatic failure, inflammatory bowel disease, ... deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe ... encoded search term (Pediatric Factor XIII Deficiency) and Pediatric Factor XIII Deficiency What to Read Next on Medscape ... Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood. 2012 May 31. 119(22):5111-7. ...
encoded search term (Factor XIII Deficiency) and Factor XIII Deficiency What to Read Next on Medscape ... Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood. 2012 May 31. 119(22):5111-7. ... Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood. 2012 May 31. 119(22):5111-7. ... Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Br J ...
Although acquired factor XIII deficiency has been described in association with hepatic failure, inflammatory bowel disease, ... deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe ... Workup in factor XIII deficiency. Assessment of clot stability is the most common screening test for factor XIII deficiency, ... encoded search term (Pediatric Factor XIII Deficiency) and Pediatric Factor XIII Deficiency What to Read Next on Medscape ...
Hereditary factor XIII deficiency is Inherited Factor XIII deficiency is the rarest factor deficiency, occurring in 1 out of 5 ... factor XIII deficiency are born with low levels of factor XIII in the blood. Congenital factor XIII deficiency is very rare, ... Factor XIII Deficiency Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A (2)B (2)) that is converted into an active ... Also unlike other coagulation factors, factor XIII circulates as a 22 Mar 2017 Objective: Fibrinogen and factor XIII (FXIII) ...
... deficiency, what causes it and how common it is. Includes links to more detailed high quality information. ... Factor XIII deficiency. (Canadian Hemophilia Society, 2001). Explains how factor XIII deficiency is passed on, what causes it, ... Factor XIII deficiency. (National Hemophilia Foundation, USA). Source: What are rare clotting factor deficiencies? World ... Factor XIII Deficiency. Factor XIII (13) deficiency is an inherited bleeding disorder caused when persons body doesnt produce ...
... deficiency, what causes it and how common it is. Includes links to more detailed high quality information. ... Factor XIII deficiency. (Canadian Hemophilia Society, 2001). Explains how factor XIII deficiency is passed on, what causes it, ... Factor XIII deficiency. (National Hemophilia Foundation, USA). Source: What are rare clotting factor deficiencies? World ... Factor XIII Deficiency. Factor XIII (13) deficiency is an inherited bleeding disorder caused when persons body doesnt produce ...
Advice of Factor XIII Deficiency. Find out things that have helped others to improve. , Diseasemaps ...
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h ...
Although acquired factor XIII deficiency has been described in association with hepatic failure, inflammatory bowel disease, ... deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe ... encoded search term (Pediatric Factor XIII Deficiency) and Pediatric Factor XIII Deficiency What to Read Next on Medscape ... Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. ...
Although acquired factor XIII deficiency has been described in association with hepatic failure, inflammatory bowel disease, ... deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe ... encoded search term (Pediatric Factor XIII Deficiency) and Pediatric Factor XIII Deficiency What to Read Next on Medscape ... Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. ...
Statistics of Factor XIII Deficiency Map - Check how this condition affects the daily life of people who suffer it. ... Total score of Factor XIII Deficiency: 0. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. ...
Factor XIII deficiency is one of the most rare coagulation factor deficiencies. ... Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) ... Congenital Factor XIII deficiency; Fibrin stabilizing factor deficiency. SNOMED CT: Hereditary factor XIII deficiency disease ( ... Biology of Factor XIII and clinical manifestations of Factor XIII deficiency.. Levy JH, Greenberg C. Transfusion 2013 May;53(5 ...
Patients with congenital Factor XIII deficiency dont make enough Factor XIII, a substance that circulates in the blood and is ... Corifact is 1st treatment for congenital Factor XIII Deficiency. The U.S. Food and Drug Administration today approved Corifact ... Congenital Factor XIII deficiency is rare and affects 1 out of every 3 million to 5 million people in the United States. The ... Newborns with Factor XIII deficiency may have umbilical cord bleeding.. "This product helps fill an important need," said Karen ...
... also known as von Willebrand factor-cleaving protease) and factor H. Test results for antibodies against both proteins were ... After the last dose, thrombocytes and activities of ADAMTS-13 and factor H increased into the normal range. Our patient ... Further diagnostics showed markedly reduced activities of both ADAMTS-13 (a disintegrin and metalloproteinase with a ... Further perpetuating factors in TTP-HUS are deficiencies of complement regulatory proteins (factor H, factor I, and decay- ...
... deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subunit (FXIII-A) deficiency. Patients ... bleeding rate, factor xiii, factor xiii deficiency, follow-up, hemorrhagic episodes, plasma, hypersensitivity, wounds and ... Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency Clinical Trials & Observations ... Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. ...
Background: Hereditary factor XIII deficiency (FXIIID) is a rare autosomal recessive disease, characterized by late bleeding, ... and Genotyping of Hereditary Factor XIII Deficiency (Project BR-13). R. Camelo1, J. Moreira2, L.I. Pires Filho3, V. Franco4, C. ... of-a-national-reference-service-for-activity-testing-typing-and-genotyping-of-hereditary-factor-xiii-deficiency-project-br-13/ ... and Genotyping of Hereditary Factor XIII Deficiency (Project BR-13) [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). ...
Protective/risk factors associated with iodine deficiency were identified using a binary logistic regression model, whereas ... The Prevalence and Risk Factors Associated with Iodine Deficiency in Canadian Adults. ... The Prevalence and Risk Factors Associated with Iodine Deficiency in Canadian Adults. ... dietary intake; epidemiological studies; iodine deficiency; iodine deficiency disorders; iodine uptake inhibitors; nutrition; ...
... release of angiogenic growth factors, and blood clot formation. By way of this review, a deeper understanding of the basic ... Mangla, A., Hamad, H., and Kumar, A. (2021). "Factor XIII Deficiency," in StatPearls (Treasure Island (FL): StatPearls ... The role of factor XIII in the extrinsic coagulation cascade. Following trauma, factor Ⅲ (FIII; tissue factor) stimulates ... 2011). Factor XIII: a Coagulation Factor with Multiple Plasmatic and Cellular Functions. Physiol. Rev. 91, 931-972. doi:10.1152 ...
Levy JH, Greenberg C. Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. Transfusion. 2013;53(5): ... Administration of factor XIII B subunit increased plasma factor XIII A subunit levels in factor XIII B subunit knock-out mice. ... The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. ... Karimi M, Bereczky Z, Cohan N, Muszbek L. Factor XIII deficiency. Semin Thromb Hemost. 2009;35(4):426-438.. View this article ...
... coagulation factors, and the endothelial cells lining the blood vessels. The platelets arise from the fragmentation of the ... Defective wound healing is observed in individuals with a factor XIII deficiency and abnormal fibrinogens. Medication history ... Delayed bleeding from the umbilical stump is characteristic of a factor XIII deficiency. ... caused by a deficiency of the plasma protein von Willebrand factor (vWF). This factor is a large, multimeric glycoprotein that ...
Factor VIII and factor XIII deficiency were identified in 3 and 2 patients, respectively. One patient developed ICH after ... Congenital disorders include hemophilia A, hemophilia B, and rarer diseases like von Willebrand factors (vWF) deficiency and ... Different risk factors like volume, size, and location of hemorrhage have been described to be associated with bad outcome. ... A recent population based study reported a distribution of risk factors that was similar to many previous reports in that most ...
The patient was subsequently diagnosed with factor XIII deficiency. Follow-up at 6 months and 12 months revealed ... supporting the use of urgent CTB in patients with certain clinical risk factors. Patients without these risk factors can be ... Clinical factors associated with abnormal CTB findings were age ≥ 40 years, HIV infection, hypertension, focal seizures, low ... Among 0-14-year-olds, western utilisation (studies/103 people) exceeded eastern by a factor of approximately 2.4 throughout ...
Factor XIII Deficiency ... View other providers who treat Anemia and Iron Deficiency ...
FDA Approves First Treatment for Congenital Factor XIII Deficiency The FDA has approved the first product intended to prevent ... bleeding in people with congenital factor XIII deficiency. News, February 23, 2011 ... and recombinant human platelet-derived growth factor (rhPDGF-BB). News, July 26, 2020 ...
Coagulation factor XIII B chain (P05160) (SMART). OMIM:134580: Factor XIIIB deficiency. ... Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh ... We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. ... A missense mutation in seventh CCP domain causes deficiency of the b subunit of factor XIII. ...
New developments in the management of congenital Factor XIII deficiency. J Blood Med. 2013. 28: 4:65-73 ... Clinical assessment for coagulation factor XIII activity and other factors. We assessed the CFXIII activity (normal range, 70- ... Keywords: Cerebrospinal fluid hypovolemia, chronic subdural hematoma, coagulation factor, coagulation factor XIII, intractable ... Spontaneous chronic subdural hematomas in young adults with a deficiency in coagulation factor XIII. Report of three cases. J ...
Factor II deficiency is a rare, inherited or acquired bleeding disorder. ... Clotting factor II, or prothrombin, is a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. ... encoded search term (Factor II Deficiency) and Factor II Deficiency What to Read Next on Medscape ... Clotting factor assay results in patients with factor II deficiency are as follows:. * In hypoprothrombinemia, functional and ...
factor VII deficiency, acquired hemophilia, Glanzmanns thrombasthenia, or. factor XIII deficiency, regardless of product ... The body doesnt recognize the infused factor as belonging to the body-it sees it as a foreign invader and mounts an attack. ... The body produces antibodies which latch on and neutralize the infused factor. It renders it useless, and the blood continues ... much they struggle: standard factor doesnt work to clot the blood, different. treatment protocols sometimes fail, children are ...
  • Acquired factor XIII (FXIII) deficiency can be caused by liver disease, inflammatory bowel disease , and disseminated intravascular coagulation , although controversy surrounds whether the low plasma levels in these conditions actually contribute to clinical bleeding. (medscape.com)
  • Naderi M, Eshghi P, Cohan N, Miri-Moghaddam E, Yaghmaee M, Karimi M. Successful delivery in patients with FXIII deficiency receiving prophylaxis: report of 17 cases in Iran. (medscape.com)
  • Activation of factor XIII (FXIII) by thrombin and calcium is a 2-step process. (medscape.com)
  • Factor XIII (FXIII), which was initially termed fibrin stabilizing factor, is involved in clot preservation. (medscape.com)
  • FXIII deficiency, an autosomal recessive disorder, is a rare but potentially life-threatening cause of a hemorrhagic diathesis. (medscape.com)
  • Congenital FXIII deficiency is due principally to defects in the catalytic A subunit of FXIII, with more than 100 mutations throughout the factor XIII A gene identified. (medscape.com)
  • [ 1 ] Acquired FXIII deficiencies, which result from autoantibodies against FXIII subunits, are extremely rare but may produce severe bleeding diatheses. (medscape.com)
  • However, these tests cannot be used to screen for FXIII deficiency because the results would be within reference ranges in a patient with isolated severe FXIII deficiency. (medscape.com)
  • Congenital factor XIII (FXIII) deficiency, originally recognized by Duckert in 1960, is a rare autosomal recessive disease usually associated with a severe bleeding diathesis. (medscape.com)
  • Fresh frozen plasma (FFP), cryoprecipitate, and factor XIII (FXIII) concentrates have been used for replacement of factor XIII and the treatment of acute bleeding. (medscape.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)
  • 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 (13) deficiency is an inherited bleeding disorder caused when person's body doesn't produce enough of a protein in the blood (factor XIII or FXIII) which helps blood clot or the factor XIII doesn't work properly. (hft.org.au)
  • Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. (nih.gov)
  • The burden and management of FXIII deficiency. (nih.gov)
  • Congenital factor XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subunit (FXIII-A) deficiency. (ashpublications.org)
  • The present study was a multinational, open-label, single-arm, phase 3 prophylaxis trial evaluating the efficacy and safety of a novel recombinant FXIII (rFXIII) in congenital FXIII-A subunit deficiency. (ashpublications.org)
  • range, 7-60) with congenital FXIII-A subunit deficiency were enrolled. (ashpublications.org)
  • We conclude that rFXIII is safe and effective in preventing bleeding episodes in patients with congenital FXIII-A subunit deficiency. (ashpublications.org)
  • Factor XIII (FXIII) is a protransglutaminase that, after activation by thrombin and the presence of calcium, becomes transglutaminase, which cross-links γ-glutamyl-ϵ-lysine residues of fibrinogen chains, leading to increased stability of the fibrin clot. (ashpublications.org)
  • Congenital FXIII deficiency is a severe bleeding disorder transmitted in an autosomal-recessive manner. (ashpublications.org)
  • Typical bleeding manifestations include umbilical stump bleeding during the first few days of life, postoperative bleeding, and intracranial hemorrhage, which is observed more frequently in FXIII deficiency than in other inherited bleeding disorders. (ashpublications.org)
  • In addition, FXIII deficiency is associated with recurrent pregnancy losses and delayed wound healing. (ashpublications.org)
  • 2 Most congenital FXIII deficiency is caused by FXIII-A subunit deficiency, which occurs at a frequency of approximately 1 in 2 million. (ashpublications.org)
  • All index cases previously diagnosed by urea clotting assays will be tested for FXIII activity and typing of deficiency A or B (HEMOÍBA), as well as analyzing the disease-related mutation (UEPB). (isth.org)
  • The number (n) of people with FXIII deficiency registered at each center was shown. (isth.org)
  • Congenital disorders include hemophilia A, hemophilia B, and rarer diseases like von Willebrand factors (vWF) deficiency and FXIII deficiency among others [ 4 ]. (hindawi.com)
  • Introduction (Background): Congenital factor XIII (FXIII) deficiency is an extre. (icbcongress.com)
  • Iran has a large group of patients with severe congenital factor XIII deficiency (FXIIID) and Trp187Arg mutation that is most disease causing mutation of FXIII in the world is only observed in southeast of Iran with 352 patients with FXIIID. (ac.ir)
  • Introduction (Background): Congenital factor XIII (FXIII) deficiency is one of t. (icbcongress.com)
  • The effect of factor XIII A subunit (FXIII-A) Val34Leu polymorphism on the risk of coronary artery disease (CAD) has been extensively studied. (unideb.hu)
  • In this study we investigated how FXIII-A Val34Leu genotypes influence plasma factor XIII levels in patients with coronary sclerosis (CS) and myocardial infarction (MI) and how fibrinogen level modulates this effect. (unideb.hu)
  • Coagulation factor XIII (FXIII) exists as heterotetramer (FXIII-A2 B2 ) in the plasma and as dimer (FXIII-A2 ) in cells. (unideb.hu)
  • FXIII is essential to maintaining haemostasis, and its deficiency causes severe bleeding diathesis. (unideb.hu)
  • Have you been looking for a treatment for factor XIII (FXIII), or fibrin stabilizing factor, deficiency? (patientworthy.com)
  • Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis. (medlineplus.gov)
  • Karimi M, Peyvandi F, Naderi M, Shapiro A. Factor XIII deficiency diagnosis: challenges and tools. (medscape.com)
  • Problems relating to the laboratory diagnosis of factor XIII deficiency: a UK NEQAS study. (medscape.com)
  • Because the clinical bleeding is severe in most patients with hereditary factor XIII deficiency, the diagnosis is made at an early age, often during infancy. (medscape.com)
  • Auto- and alloantibodies against factor XIII: laboratory diagnosis and clinical consequences. (nih.gov)
  • Since no clinical symptoms/laboratory findings indicated a malignant or specific autoimmune-mediated disorder, the diagnosis made was thrombotic thrombocytopenic purpura-hemolytic uremic syndrome due to idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency. (biomedcentral.com)
  • For a better diagnosis of Factor XIII deficiency! (langanbach.ie)
  • The diagnosis of such hereditary forms is confirmed by stable, life-long insufficiency of factor I, as well as hypofibrinogenemia in the parents and other blood relatives of the patient. (treatment-diabetes-info.com)
  • ABSTRACT This cross-sectional study was carried out to examine the association between osteoporosis and specific risk factors among 384 women referred to the Radiology Department at King Abdullah University Hospital, Irbid, Jordan during the period September 2009-August 2010 for diagnosis of osteopenia or osteoporosis. (who.int)
  • Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. (who.int)
  • Inbal A, Oldenburg J, Carcao M, Rosholm A, Tehranchi R, Nugent D. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. (medscape.com)
  • FDA Approves First Treatment for Congenital Factor XIII Deficiency The FDA has approved the first product intended to prevent bleeding in people with congenital factor XIII deficiency. (medscape.com)
  • Hereditary factor XIII deficiency (FXIIID) is a rare autosomal recessive disease, characterized by late bleeding, including intracranial hemorrhage. (isth.org)
  • Further diagnostics showed markedly reduced activities of both ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 - also known as von Willebrand factor-cleaving protease) and factor H. Test results for antibodies against both proteins were positive. (biomedcentral.com)
  • A lack of ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 - also known as von Willebrand factor-cleaving protease), a protease responsible for degrading von Willebrand factor precursors, can cause severe cases of TTP-HUS [ 4 ]. (biomedcentral.com)
  • Platelets play a primary role in this process, interacting with subendothelium-bound von Willebrand factor (vWf) via the membrane glycoprotein (GP) Ib complex. (medscape.com)
  • Cryo may be used to treat bleeding due to Hemophilia A (factor VIII (8) deficiency) or von Willebrand disease when appropriate factor concentrates are not available and/or desmopressin (DDAVP) is contraindicated or ineffective. (medscape.com)
  • 26 May 2018 Factor XI Deficiency is a genetically inherited disease that's a form of hemophilia. (firebaseapp.com)
  • Novo Nordisk's NovoSecure is a comprehensive patient support program for patients with hemophilia A, hemophilia A or B with inhibitors, factor VII deficiency, acquired hemophilia, Glanzmann's thrombasthenia, or factor XIII deficiency, regardless of product choice. (kelleycom.com)
  • On September 5, 1995, a 13-year-old boy with mild hemophilia A (factor VIII deficiency) became acutely ill with nausea and vomiting after a 2-week period of fatigue, poor appetite, and low-grade fever. (cdc.gov)
  • In response to this bulletin, two brothers with hemophilia A (aged 6 and 7 years) who had received this clotting factor concentrate were identified and tested for anti-HAV on November 17. (cdc.gov)
  • Prophylaxis in rare coagulation disorders -- factor XIII deficiency. (medscape.com)
  • Inadequate dietary intake is associated with cognitive impairment , infertility , growth retardation and iodine deficiency disorders in affected populations . (bvsalud.org)
  • Platelet disorders lead to defects in primary hemostasis and produce signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). (medscape.com)
  • Hematological disorders are reported to be the major risk factor in 10% to 30% of the hemorrhagic strokes in most studies. (hindawi.com)
  • In addition, acquired disorders such as coagulation factor inhibitors affect adults more often than children. (medscape.com)
  • To improve rates of exclusive breastfeeding.4.6 Goal: To minimize the extent and magnitude of iron, iodine and vitamin A deficiency on pregnancy performance and outcome, the growth and development of young children and the productivity and efficiency of adults.Objectives1.Eliminate iodine deficiency disorders amongst the general population.2. (who.int)
  • As Factor XIII is composed of two subunit protein, A and B, for which the genes are located on different chromosomes, administration of recombinant A subunit improves clot stability and is becoming a therapeutic option for patients with this condition. (wikipedia.org)
  • Although it is a recombinant protein, rFXIII subunit A is identical in structure and function to the A subunit of factor XIII naturally produced in the body by healthy individuals. (wikipedia.org)
  • These genes provide instructions for making the two parts (subunits) of a protein called factor XIII. (medlineplus.gov)
  • Acquired factor XIII deficiency can also be caused by abnormal activation of the immune system, which produces specialized proteins called autoantibodies that attack and disable the factor XIII protein. (medlineplus.gov)
  • These studies demonstrate that a Cys430-Phe mutation does not prevent the de novo synthesis of the b subunit, but alters the conformation of the mutant protein sufficiently to impair its intracellular transport, resulting in its deficiency in this patient. (embl.de)
  • In each case of detecting a- or hypofibrinogenemia, the doctor should first of all think not about the genetically determined deficiency of this protein, but about the more frequently acquired forms of the indicated pathology in clinical practice, caused either by DIC or hepatic dystrophy. (treatment-diabetes-info.com)
  • Inherited factor XIII deficiency results from mutations in the F13A1 gene or, less commonly, the F13B gene. (medlineplus.gov)
  • Mutations in the F13A1 or F13B gene significantly reduce the amount of functional factor XIII available to participate in blood clotting. (medlineplus.gov)
  • Inherited factor XIII deficiency is usually due to mutations in the gene encoding the catalytic A subunit, located on chromosome 6. (medscape.com)
  • 3 Fifty percent of the molecular defects responsible for A-subunit deficiency are missense mutations. (ashpublications.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)
  • Therefore, identifying mutations in F10 is important for diagnosing congenital FX deficiency. (karger.com)
  • Genetic analysis of these two mutations may help characterize the bleeding tendency and confirm congenital FX deficiency. (karger.com)
  • Factor XIII deficiency : complete phenotypic characterization of two cases with novel causative mutations / É. (unideb.hu)
  • A missense mutation in seventh CCP domain causes deficiency of the b subunit of factor XIII. (embl.de)
  • Factor XIII deficiency is a rare bleeding disorder. (medlineplus.gov)
  • 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)
  • 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)
  • Therefore, it is necessary to test factor XIII activity or clot solubility test for diagnosing this disorder. (biomedcentral.com)
  • A thirteen-year-old junior tennis player, who had had no past history of disorder and played several hours a day since 6 years old, visited our hospital with the chief complaint of left knee pain after tennis games for two years. (biomedcentral.com)
  • Catridecacog is a prescription medication used to prevent bleeding in people with a rare blood clotting disorder known as congenital Factor XIII A-subunit deficiency. (rxwiki.com)
  • citation needed] Two commercially produced factor XIII concentrates are currently available in Europe, one manufactured by Bio Products Laboratory (BPL) and only available in the United Kingdom. (wikipedia.org)
  • These patients need exogenous subunit A of factor XIII since they have a mutation which prevents production of the A subunit. (wikipedia.org)
  • These mutation carriers have a reduced amount of factor XIII in their bloodstream (20 to 60 percent of normal), and they may experience abnormal bleeding after surgery, dental work, or major trauma. (medlineplus.gov)
  • Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain. (embl.de)
  • Prevalence of factor V Leiden and prothrombin G20210A gene mutation. (medscape.com)
  • Matched case-control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years. (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)
  • Recombinant factor XIII (rFXIII) is the only drug alternative to receiving blood transfusions, the traditional treatment for factor XIII deficiency. (wikipedia.org)
  • Recombinant factor XIII-A 2 (Tretten) was approved by the US Food and Drug Administration (FDA) in December 2013 and presents an alternative in the treatment of congenital factor XIII A-subunit deficiency. (medscape.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)
  • The alpha granules contain hemostatic proteins such as fibrinogen, vWf, and growth factors (eg, platelet-derived growth factor and transforming growth factors). (medscape.com)
  • New FDA Orphan Drugs: Cethromycin, Maribavir, rhPDGF-BB The FDA has granted orphan drug designation for cethromycin, maribavir, and recombinant human platelet-derived growth factor (rhPDGF-BB). (medscape.com)
  • Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. (antibodies-online.com)
  • Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. (antibodies-online.com)
  • As factor XIII level was 54% preoperatively, we diagnosed that this condition was caused by low activity level of the factor and administered factor XIII concentrates. (biomedcentral.com)
  • Some people, including parents of individuals with factor XIII deficiency, carry a single mutated copy of the F13A1 or F13B gene in each cell. (medlineplus.gov)
  • Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. (medlineplus.gov)
  • Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. (medlineplus.gov)
  • 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)
  • mia and G6PD deficiency, signs and and haemolytic anaemia and is the symptoms of iron-deficiency anaemia result of a decrease in haemoglobin Sample and anaemia, such as pica, agitation, (Hb)F synthesis during the first year This cross-sectional study was conduct- anorexia and pale conjunctiva, and of life ( 3 ). (who.int)
  • 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 XI inhibitors in adjunct to antiplatelet therapy: the ultimate dual-pathway inhibition? (btvb.org)
  • FFP is ineffective in managing bleeding due to direct factor Xa inhibitors. (msdmanuals.com)
  • A mixing study was performed to eliminate the presence of coagulation factor inhibitors and lupus anticoagulant. (karger.com)
  • Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition. (medlineplus.gov)
  • Dickneite G, Herwald H, Korte W, Allanore Y, Denton CP, Matucci Cerinic M. Coagulation factor XIII: a multifunctional transglutaminase with clinical potential in a range of conditions. (medscape.com)
  • Factor XIII is a plasma transglutaminase that catalyzes the final step in the coagulation cascade, cross-linking the loose fibrin polymer into a highly organized structure. (medscape.com)
  • The two methods used to measure the enzymatic activity of factor XIII include measurement of synthetic amine incorporation into a fibrin clot, and measurement of ammonium ion release during the transglutaminase reaction. (medscape.com)
  • Atasay B, Arsan S, Gunlemez A, Kemahli S, Akar N. Factor V Leiden and prothrombin gene 20210A variant in neonatal thromboembolism and in healthy neonates and adults: a study in a single center. (medscape.com)
  • This gene encodes the coagulation factor XIII A subunit. (antibodies-online.com)
  • The production of autoantibodies against factor XIII is sometimes associated with immune system diseases such as systemic lupus erythematosus and rheumatoid arthritis . (medlineplus.gov)
  • The development of autoantibodies to factor XIII has been reported. (medscape.com)
  • rFXIII acts by inhibiting fibrinolysis factors which enzymatically cleave the fibrin matrix, leading to the ultimate formation of clots. (wikipedia.org)
  • Excessive fibrinolysis may also occur with dysfibrinogenemia, factor XIII deficiency, decreased PAI-1 levels or decreased alpha -2- antiplasmin activity. (clevelandcliniclabs.com)
  • The Prevalence and Risk Factors Associated with Iodine Deficiency in Canadian Adults. (bvsalud.org)
  • Herein, we examined the prevalence of iodine deficiency in adults (median age of 61 years) based on the analysis of 24 h urine samples collected from 800 participants in four clinical sites across Canada in the Prospective Urban and Rural Epidemiological (PURE) study. (bvsalud.org)
  • A high prevalence of -thalassaemia trait was the major potential risk factor in this population. (who.int)
  • Written consent marriage, illiteracy and certain cultural was taken from each student within the There are a number of different no- beliefs in different nomadic groups may legal age range and the remaining par- mad tribes of different ethnicities in produce variations in the prevalence ticipants signed the consent with their the Islamic Republic of Iran and the of thalassaemia, G6PD deficiency and parents signing as witnesses. (who.int)
  • The Data collection in the Islamic Republic of Iran ( 1 ) aim of this study was to investigate the The study was performed over a which drastically affects the family prevalence of iron-deficiency anaemia, 6-month period from March to July and personal life of sufferers and is a -thalassaemia, and G6PD deficiency 2012. (who.int)
  • Reduce the prevalence of vitamin A deficiency and iron deficiency anemia in women and children.3.To increase the consumption of foods rich in micronutrients.4.7 Goal: To reduce mortality due to acute malnutrition and its long term adverse effects on growth and development.Objectives1. (who.int)
  • This report Human Immuno Deficiency Virus / Acquired Immune Deficiency. (firebaseapp.com)
  • Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management. (medscape.com)
  • Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. (wikipedia.org)
  • Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). (medlineplus.gov)
  • Central nervous system bleeding in pediatric patients with factor XIII deficiency: a study on 23 new cases. (medscape.com)
  • Although acquired factor XIII deficiency has been described in association with chronic conditions such as hepatic failure, inflammatory bowel disease, and myeloid leukemia, the only significant cause for bleeding in children is an inherited deficiency. (medscape.com)
  • The U.S. Food and Drug Administration today approved Corifact, the first product intended to prevent bleeding in people with the rare genetic defect congenital Factor XIII deficiency. (medicineandtechnology.com)
  • The deficiency may lead to soft tissue bruising, mucosal bleeding and fatal intracranial bleeding. (medicineandtechnology.com)
  • Newborns with Factor XIII deficiency may have umbilical cord bleeding. (medicineandtechnology.com)
  • Historical Factors to Explore in Adults Presenting With Abnormal Bleeding. (medscape.com)
  • Alleviation of secondary brain injury, posttraumatic inflammation, and brain edema formation by inhibition of factor XIIa. (ukw.de)
  • Factor XIII acts at the end of the cascade to strengthen and stabilize newly formed clots, preventing further blood loss. (medlineplus.gov)
  • Ichinose A, Asahina T, Kobayashi T. Congenital blood coagulation factor XIII deficiency and perinatal management. (medscape.com)
  • Patients with congenital Factor XIII deficiency don't make enough Factor XIII, a substance that circulates in the blood and is important for normal clotting. (medicineandtechnology.com)
  • We subsequently discuss how β-TCP can regulate osteogenic processes to aid bone repair/healing, namely osteogenic differentiation of mesenchymal stem cells, formation of blood vessels, release of angiogenic growth factors, and blood clot formation. (frontiersin.org)
  • The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. (medscape.com)
  • First, by how much they struggle: standard factor doesn't work to clot the blood, different treatment protocols sometimes fail, children are on prescription painkillers, with ports and surgeries. (kelleycom.com)
  • Whole blood can provide improved oxygen-carrying capacity, volume expansion, and replacement of clotting factors and was previously recommended for rapid massive blood loss. (msdmanuals.com)
  • Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. (antibodies-online.com)
  • Thrombin, generated by reactions initiated by activated tissue factor VII/factor IX pathways, leads to clot formation. (medscape.com)
  • Activation of the zymogen to factor XIIIa depends on limited thrombin cleavage of the A subunits followed by calcium-dependent dissociation of the B subunits, exposing the A subunit active site (as shown in the image below). (medscape.com)
  • citation needed] Fresh frozen plasma and cryoprecipitate are the mainstay of therapy for Factor XIII deficiency, but carry risk related to transfusion. (wikipedia.org)
  • Influence of factor XIII activity on post-operative transfusion in congenital cardiac surgery-A retrospective analysis. (medscape.com)
  • Todd T, J Perry D. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. (medscape.com)
  • Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms. (medscape.com)
  • Factor XIII is known as fibrin stabilizing factor, which acts in the terminal phase of the coagulation cascade. (biomedcentral.com)