Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.
A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction.
A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.
A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR.
An antibiotic mixture of two components, A and B, obtained from Nocardia lurida (or the same substance produced by any other means). It is no longer used clinically because of its toxicity. It causes platelet agglutination and blood coagulation and is used to assay those functions in vitro.
Blood-coagulation factor VIII. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin.
A synthetic analog of the pituitary hormone, ARGININE VASOPRESSIN. Its action is mediated by the VASOPRESSIN receptor V2. It has prolonged antidiuretic activity, but little pressor effects. It also modulates levels of circulating FACTOR VIII and VON WILLEBRAND FACTOR.
Duration of blood flow after skin puncture. This test is used as a measure of capillary and platelet function.
Platelet membrane glycoprotein complex essential for normal platelet adhesion and clot formation at sites of vascular injury. It is composed of three polypeptides, GPIb alpha, GPIb beta, and GPIX. Glycoprotein Ib functions as a receptor for von Willebrand factor and for thrombin. Congenital deficiency of the GPIb-IX complex results in Bernard-Soulier syndrome. The platelet glycoprotein GPV associates with GPIb-IX and is also absent in Bernard-Soulier syndrome.
Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation.
Venoms from snakes of the subfamily Crotalinae or pit vipers, found mostly in the Americas. They include the rattlesnake, cottonmouth, fer-de-lance, bushmaster, and American copperhead. Their venoms contain nontoxic proteins, cardio-, hemo-, cyto-, and neurotoxins, and many enzymes, especially phospholipases A. Many of the toxins have been characterized.
Surface glycoproteins on platelets which have a key role in hemostasis and thrombosis such as platelet adhesion and aggregation. Many of these are receptors.
Agents acting to arrest the flow of blood. Absorbable hemostatics arrest bleeding either by the formation of an artificial clot or by providing a mechanical matrix that facilitates clotting when applied directly to the bleeding surface. These agents function more at the capillary level and are not effective at stemming arterial or venous bleeding under any significant intravascular pressure.
Rod-shaped storage granules for VON WILLEBRAND FACTOR specific to endothelial cells.
The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces.
The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.
Laboratory tests for evaluating the individual's clotting mechanism.
The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
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.
Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Bleeding or escape of blood from a vessel.
A family of membrane-anchored glycoproteins that contain a disintegrin and metalloprotease domain. They are responsible for the proteolytic cleavage of many transmembrane proteins and the release of their extracellular domain.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
Disorders caused by abnormalities in platelet count or function.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Agents capable of exerting a harmful effect on the body.
The process of generating thrombocytes (BLOOD PLATELETS) from the pluripotent HEMATOPOIETIC STEM CELLS in the BONE MARROW via the MEGAKARYOCYTES. The humoral factor with thrombopoiesis-stimulating activity is designated THROMBOPOIETIN.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Endogenous substances, usually proteins, that are involved in the blood coagulation process.
Proteins prepared by recombinant DNA technology.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A lymphohematopoietic cytokine that plays a role in regulating the proliferation of ERYTHROID PRECURSOR CELLS. It induces maturation of MEGAKARYOCYTES which results in increased production of BLOOD PLATELETS. Interleukin-11 was also initially described as an inhibitor of ADIPOGENESIS of cultured preadipocytes.
The process of the interaction of BLOOD COAGULATION FACTORS that results in an insoluble FIBRIN clot.
An individual having different alleles at one or more loci regarding a specific character.
Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A subnormal level of BLOOD PLATELETS.
Laboratory examination used to monitor and evaluate platelet function in a patient's blood.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Formation and development of a thrombus or blood clot in the blood vessel.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
Electrophoresis in which agar or agarose gel is used as the diffusion medium.
The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy.
Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.
The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
The assembly of the QUATERNARY PROTEIN STRUCTURE of multimeric proteins (MULTIPROTEIN COMPLEXES) from their composite PROTEIN SUBUNITS.
Identification of genetic carriers for a given trait.
The transfer of blood platelets from a donor to a recipient or reinfusion to the donor.
Antibodies from an individual that react with ISOANTIGENS of another individual of the same species.
A purely physical condition which exists within any material because of strain or deformation by external forces or by non-uniform thermal expansion; expressed quantitatively in units of force per unit area.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components.
An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Biochemical identification of mutational changes in a nucleotide sequence.
The sum of the weight of all the atoms in a molecule.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Deletion of sequences of nucleic acids from the genetic material of an individual.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

von Willebrand disease with G4022A mutation (vWd Sungnam): a case report. (1/482)

A 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies. The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma. An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced. We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln. Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed. We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease.  (+info)

An acutely painful elbow as a first presentation of von Willebrand's disease. (2/482)

A 26 year old woman presented to the accident and emergency department with a painful right elbow. There had been no history of trauma. Clinical examination suggested an effusion, which was confirmed on radiological examination. Her elbow was aspirated and revealed a haemarthrosis. Subsequent investigations revealed a diagnosis of von Willebrand's disease (vWD). A spontaneously occurring effusion of the elbow may be due to a haemarthrosis. Aspiration of blood in the absence of trauma may lead to a diagnosis of an occult coagulopathy in addition to relieving pain. The diagnosis and treatment of vWD is discussed.  (+info)

Low platelet alpha2beta1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system. (3/482)

Platelet adhesion to collagen-coated surfaces in whole blood under flow conditions is mediated by both von Willebrand factor (vWF)-dependent recruitment of the platelet glycoprotein Ib-IX receptor complex and collagen interaction with the integrin alpha2beta1. In type 1 von Willebrand disease (vWD), platelet adhesive functions are impaired due to the decrease in vWF levels in plasma and platelets. There are at least three alleles of the human alpha2 gene, distinguishable by a cluster of silent or noncoding sequence differences within a segment of the gene. Two alleles, associated with low receptor density can be distinguished by nucleotide 807C, while the third allele associated with high receptor density, expresses nucleotide 807T. Gene frequencies of these alleles in a normal population (n = 167) are 0.58 for 807C and 0.42 for 807T. We measured the frequencies of these alleles in symptomatic patients with five types of vWD (type 1, n = 78; type 2A, n = 25, type 2B, n = 14; type 2M, n = 10; and type 3, n = 20). Compared with the normal group, no significant difference in allele frequencies was observed among individuals with types 2A, 2B, 2M, or 3 vWD. However, the frequency of the 807C allele, associated with low collagen receptor density, among type 1 vWD patients (807C =.71; 807T =.29) was significantly higher than that of the normal population (P =.007). Also, in patients with vWD type 1 and borderline to normal ristocetin-cofactor (vWF:RCo) activity values, collagen receptor density correlates inversely with closure time in a high shear stress system (platelet function analyzer [PFA-100]). We propose that low platelet alpha2beta1 density results in less efficient primary platelet adhesion and may result in increased tendency to bleed, as evidenced by the high frequency of this polymorphism in patients with type 1 vWD compared with normal individuals. In addition, this may account for the variability between patients with similar levels of vWF antigen, but strikingly different bleeding histories.  (+info)

Plasma von Willebrand factor-collagen binding activity in normal dogs and in dogs with von Willebrand's disease. (4/482)

A sensitive enzyme-linked immunosorbent assay was used for the simultaneous assessment of the amount of von Willebrand factor (vWF) in canine plasma and its ability to bind to canine collagen in vitro. In 60 normal dogs, there was close correlation between the concentration of vWF and its activity as determined by vWF-collagen binding. In 14 dogs with type I expressions of von Willebrand's disease, the ratio of vWF antigen to collagen binding activity was normal or only slightly increased. In 7 dogs with type II expressions of the disease, this ratio was consistently elevated suggesting a significant functional deficiency of the protein. Plasma from 3 dogs with type III von Willebrand's disease had little collagen binding activity because of the severe quantitative deficiency of the protein. The described assay permits the rapid assessment of both the quantity and quality of vWF in a dog. This information is necessary for the detection and characterization of canine von Willebrand's disease, particularly the type II expressions, which cannot be diagnosed by quantitative vWF assays alone.  (+info)

Evidence for extracellular processing of pro-von Willebrand factor after infusion in animals with and without severe von Willebrand disease. (5/482)

Although proteolytic processing of pro-von Willebrand factor (pro-vWF) resulting in free propeptide and mature vWF is known to be initiated intracellularly, vWF released from endothelial cells may contain a high proportion of incompletely processed pro-vWF. Because pro-vWF is only rarely detectable in normal human plasma, we investigated whether extracellular processing of pro-vWF is possible. A recombinant preparation (rpvWF) containing both pro-vWF and mature vWF subunits was infused into 2 pigs and 1 dog with severe von Willebrand disease, 2 mice with a targeted disruption of the vWF gene, and 2 healthy baboons. Total vWF antigen (vWF:Ag), free propeptide, and pro-vWF were measured using enzyme-linked immunosorbent assay techniques in blood samples drawn before and after infusion. vWF:Ag increased promptly. No pro-vWF could be detected when the first postinfusion sample was drawn after 30 minutes (pigs) or 60 minutes (mice), but pro-vWF was detectable for short periods when postinfusion samples were drawn after 15 minutes (dog) or 5 minutes (baboons). In contrast, free propeptide was increased at the first timepoint measured, suggesting that it was generated from the pro-vWF in the rpvWF preparation. vWF multimers were analyzed in the rpvWF preparation and in plasma samples drawn before and after infusion of rpvWF using ultra-high resolution 3% agarose gels to allow separation of homo- and hetero-forms of the vWF polymers. Within 30 minutes after infusion in the pigs, 1 hour in the dog and the mice, and within 2 hours in the baboons, the multimer pattern had changed to that typically seen in mature vWF. These data indicate that propeptide cleavage from unprocessed vWF can occur extracellularly in the circulation. The enzyme or enzymes responsible for this cleavage in plasma remain to be identified.  (+info)

Desmopressin enhances the binding of plasma von Willebrand factor to collagen in plasmas from normal dogs and dogs with type I von Willebrand's disease. (6/482)

A new in vitro von Willebrand factor-collagen binding activity (vWF:CBA) assay was used to assess qualitative changes in vWF in normal dogs and dogs with Type I von Willebrand's disease (vWD) following treatment with desmopressin acetate (DDAVP). Although DDAVP induced increases in vWF antigen concentrations at 1 hour postinfusion in both normal and vWD dogs (57% and 60% increases, respectively), there were disproportionately greater increases in vWF:CBA (96% and 103% increases). These results support the hypothesis that the enhanced hemostatic activity induced by DDAVP is, at least in part, due to the selective release of more functionally active vWF multimers. The assay, as described, provides a convenient means of simultaneously assessing vWF quantity and function before and after DDAVP administration.  (+info)

Involvement of low-density lipoprotein receptor-related protein (LRP) in the clearance of factor VIII in von Willebrand factor-deficient mice. (7/482)

Factor VIII is tightly noncovalently linked to von Willebrand factor (vWF) in plasma with a stoichiometry of 1:50, and vWF deficiency results in secondary factor VIII deficiency, with accelerated clearance of factor VIII from the circulation. We used a murine model of severe von Willebrand disease (vWF knockout mice) to study the effect of a recombinant vWF/pro-vWF preparation (rpvWF) on factor VIII survival and to investigate whether low-density lipoprotein receptor-related protein (LRP) might be involved in the in vivo clearance of factor VIII in the absence of vWF. vWF-deficient mice received 70 U/kg rpvWF in the first series of experiments, and in a second series, 80 mg/kg receptor-associated protein (RAP) as a recombinant fusion protein to block the action of LRP. Factor VIII levels were measured at time 0, or 1 or 3 hours after administration of rpvWF or RAP. RAP induced a sustained rise in factor VIII levels comparable to that induced by rpvWF. In a third series, the preadministration of RAP resulted in a slower disappearance of factor VIII antigen (measured by an enzyme-linked immunosorbent assay specific for human factor VIII) after infusion of recombinant factor VIII. These findings suggest that the accelerated clearance of factor VIII seen in the absence of vWF may be a result of the involvement of LRP in factor VIII metabolism. (Blood. 2000;95:1703-1708)  (+info)

Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. (8/482)

Two novel mutations, a T-to-C transition at nucleotide 2612 and a T-to-G transversion at nucleotide 3923 of the von Willebrand factor (vWF) complementary DNA, were detected by analysis of the vWF gene in DNA from members of 2 families with atypical von Willebrand disease. The T2612C transition predicts substitution of cysteine by arginine at amino acid position 788 (C788R), and the T3923G transversion predicts substitution of cysteine by glycine at position 1225 (C1225G) of pre-pro-vWF. The patients homozygous for the C788R and C1225G mutations both had a partial vWF deficiency (0. 18 IU/mL and 0.07 IU/mL vWF antigen, respectively); vWF in plasma from patients homozygous for either the C788R or the C1225G mutation failed to bind factor VIII and lacked high molecular weight multimers. Recombinant (r) vWF molecules having the C788R or C1225G mutation were expressed in COS-7 cells. Both rvWF C788R and rvWF C1225G exhibited significantly impaired secretion and failed to bind factor VIII. Recombinant vWF C788R in COS-7 culture medium showed a severe reduction in high molecular weight multimers, whereas rvWF C1225G showed a very mild reduction in high molecular weight multimers when compared with wild-type rvWF. (Blood. 2000;95:2000-2007)  (+info)

Von Willebrand disease (vWD) is a genetic bleeding disorder caused by deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting. The VWF plays a crucial role in the formation of a stable platelet plug during the process of hemostasis, which helps to stop bleeding.

There are three main types of vWD:

1. Type 1: This is the most common form, characterized by a partial quantitative deficiency of functional VWF. Bleeding symptoms are usually mild.
2. Type 2: In this type, there is a qualitative defect in the VWF protein leading to various subtypes (2A, 2B, 2M, and 2N) with different bleeding patterns. Symptoms can range from mild to severe.
3. Type 3: This is the most severe form of vWD, characterized by a near or complete absence of functional VWF and Factor VIII. Affected individuals have a high risk of spontaneous and severe bleeding episodes.

The clinical manifestations of vWD include easy bruising, prolonged nosebleeds (epistaxis), heavy menstrual periods in women, and excessive bleeding after dental procedures, surgeries, or trauma. The diagnosis is made based on laboratory tests that assess VWF antigen levels, VWF activity, and Factor VIII coagulant activity. Treatment options include desmopressin (DDAVP) to stimulate the release of VWF from endothelial cells, recombinant VWF, or plasma-derived VWF concentrates, and antifibrinolytic agents like tranexamic acid to reduce bleeding.

Von Willebrand factor (vWF) is a large multimeric glycoprotein that plays a crucial role in hemostasis, the process which leads to the cessation of bleeding and the formation of a blood clot. It was named after Erik Adolf von Willebrand, a Finnish physician who first described the disorder associated with its deficiency, known as von Willebrand disease (vWD).

The primary functions of vWF include:

1. Platelet adhesion and aggregation: vWF mediates the initial attachment of platelets to damaged blood vessel walls by binding to exposed collagen fibers and then interacting with glycoprotein Ib (GPIb) receptors on the surface of platelets, facilitating platelet adhesion. Subsequently, vWF also promotes platelet-platelet interactions (aggregation) through its interaction with platelet glycoprotein IIb/IIIa (GPIIb/IIIa) receptors under high shear stress conditions found in areas of turbulent blood flow, such as arterioles and the capillary bed.

2. Transport and stabilization of coagulation factor VIII: vWF serves as a carrier protein for coagulation factor VIII (FVIII), protecting it from proteolytic degradation and maintaining its stability in circulation. This interaction between vWF and FVIII is essential for the proper functioning of the coagulation cascade, particularly in the context of vWD, where impaired FVIII function can lead to bleeding disorders.

3. Wound healing: vWF contributes to wound healing by promoting platelet adhesion and aggregation at the site of injury, which facilitates the formation of a provisional fibrin-based clot that serves as a scaffold for tissue repair and regeneration.

In summary, von Willebrand factor is a vital hemostatic protein involved in platelet adhesion, aggregation, coagulation factor VIII stabilization, and wound healing. Deficiencies or dysfunctions in vWF can lead to bleeding disorders such as von Willebrand disease.

Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting. There are several types of VWD, and type 2 is further divided into four subtypes (2A, 2B, 2M, and 2N) based on the specific defects in the VWF protein.

Type 2 von Willebrand disease is characterized by qualitative abnormalities in the VWF protein, which affect its ability to function properly. The four subtypes of type 2 VWD are defined as follows:

* Type 2A: This subtype is caused by a decrease in the amount of high molecular weight multimers (HMWM) of VWF, which are essential for effective platelet adhesion and clot formation. The reduction in HMWM leads to a prolonged bleeding time and increased susceptibility to bleeding.
* Type 2B: This subtype is characterized by an increased affinity of VWF for platelets, leading to the formation of large platelet aggregates and a decrease in the amount of circulating VWF. This results in a shortened bleeding time but increased bleeding severity due to the loss of HMWM.
* Type 2M: This subtype is caused by defects in the VWF protein that affect its ability to bind to platelets, leading to a decrease in platelet adhesion and clot formation. The HMWM are present but do not function properly, resulting in a prolonged bleeding time.
* Type 2N: This subtype is characterized by a decreased affinity of VWF for factor VIII, which is necessary for the normal coagulation cascade. This results in a decrease in the half-life of factor VIII and an increased risk of bleeding, particularly during surgery or trauma.

In summary, type 2 von Willebrand disease is a genetic bleeding disorder caused by qualitative abnormalities in the VWF protein, leading to defects in platelet adhesion and clot formation. The four subtypes of type 2 VWD are defined based on specific defects in the VWF protein that affect its ability to bind to platelets, factor VIII, or both.

Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or abnormality of the von Willebrand factor (VWF), a protein involved in blood clotting. Type 1 VWD is the most common form and is characterized by a partial decrease in the amount of functional VWF in the blood, which can lead to prolonged bleeding times after injury or surgery. The symptoms are usually mild to moderate and may include easy bruising, nosebleeds, heavy menstrual periods, and excessive bleeding following dental work or childbirth. Type 1 VWD is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the disorder if one of their parents has it.

Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or abnormality of the von Willebrand factor (VWF), a protein involved in blood clotting. Type 3 is the most severe form of VWD, characterized by extremely low levels or complete absence of VWF and Factor VIII, another clotting factor. This results in a significant impairment of the primary hemostasis, leading to spontaneous and severe bleeding episodes, including mucocutaneous bleeding (nosebleeds, gum bleeding, skin bruising), gastrointestinal bleeding, joint bleeds, and menorrhagia in women. Type 3 VWD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to have the disease.

Ristocetin is not a medical condition but a type of antibiotic used to treat infections caused by certain Gram-positive bacteria that are resistant to other antibiotics. Ristocetin is an glycopeptide antibiotic, which works by binding to the bacterial cell wall and inhibiting its synthesis, leading to bacterial death. It is not commonly used due to its potential to cause blood disorders, such as thrombocytopenia (low platelet count) and platelet aggregation.

In medical literature, ristocetin is also known for its use in the laboratory setting as a reagent for the platelet function test, called the ristocetin-induced platelet aggregation (RIPA) assay. This test is used to evaluate the ability of platelets to aggregate and form clots in response to ristocetin, which can help diagnose certain bleeding disorders such as Bernard-Soulier syndrome and von Willebrand disease.

Factor VIII is a protein in the blood that is essential for normal blood clotting. It is also known as antihemophilic factor (AHF). Deficiency or dysfunction of this protein results in hemophilia A, a genetic disorder characterized by prolonged bleeding and easy bruising. Factor VIII works together with other proteins to help form a clot and stop bleeding at the site of an injury. It acts as a cofactor for another clotting factor, IX, in the so-called intrinsic pathway of blood coagulation. Intravenous infusions of Factor VIII concentrate are used to treat and prevent bleeding episodes in people with hemophilia A.

Desmopressin, also known as 1-deamino-8-D-arginine vasopressin (dDAVP), is a synthetic analogue of the natural hormone arginine vasopressin. It is commonly used in medical practice for the treatment of diabetes insipidus, a condition characterized by excessive thirst and urination due to lack of antidiuretic hormone (ADH).

Desmopressin works by binding to V2 receptors in the kidney, which leads to increased water reabsorption and reduced urine production. It also has some effect on V1 receptors, leading to vasoconstriction and increased blood pressure. However, its primary use is for its antidiuretic effects.

In addition to its use in diabetes insipidus, desmopressin may also be used to treat bleeding disorders such as hemophilia and von Willebrand disease, as it can help to promote platelet aggregation and reduce bleeding times. It is available in various forms, including nasal sprays, injectable solutions, and oral tablets or dissolvable films.

Bleeding time is a medical test that measures the time it takes for a small blood vessel to stop bleeding after being cut. It's used to evaluate platelet function and the effectiveness of blood clotting. The most common method used to measure bleeding time is the Ivy method, which involves making a standardized incision on the forearm and measuring the time it takes for the bleeding to stop. A normal bleeding time ranges from 2 to 9 minutes, but this can vary depending on the specific method used. Prolonged bleeding time may indicate an impairment in platelet function or clotting factor deficiency.

The platelet glycoprotein GPIb-IX complex is a crucial receptor on the surface of platelets that plays a vital role in hemostasis and thrombosis. It is a heterotetrameric transmembrane protein complex composed of two disulfide-linked glycoprotein subunits, GPIbα, GPIbβ, GPV (Glycoprotein V), and GPIX (Glycoprotein IX).

The GPIb-IX complex is responsible for the initial interaction between platelets and von Willebrand factor (vWF) in the circulation. When blood vessels are damaged, exposed collagen recruits vWF to the site of injury, where it binds to the GPIbα subunit of the GPIb-IX complex, leading to platelet adhesion and activation. This interaction is critical for primary hemostasis, which helps prevent excessive blood loss from injured vessels.

Genetic mutations or deficiencies in the genes encoding these glycoproteins can lead to bleeding disorders such as Bernard-Soulier syndrome, a rare autosomal recessive disorder characterized by thrombocytopenia and large platelets with impaired vWF binding and platelet adhesion.

Blood platelets, also known as thrombocytes, are small, colorless cell fragments in our blood that play an essential role in normal blood clotting. They are formed in the bone marrow from large cells called megakaryocytes and circulate in the blood in an inactive state until they are needed to help stop bleeding. When a blood vessel is damaged, platelets become activated and change shape, releasing chemicals that attract more platelets to the site of injury. These activated platelets then stick together to form a plug, or clot, that seals the wound and prevents further blood loss. In addition to their role in clotting, platelets also help to promote healing by releasing growth factors that stimulate the growth of new tissue.

Crotalid venoms are the toxic secretions produced by the members of the Crotalinae subfamily, also known as pit vipers. This group includes rattlesnakes, cottonmouths (or water moccasins), and copperheads, which are native to the Americas, as well as Old World vipers found in Asia and Europe, such as gaboon vipers and saw-scaled vipers.

Crotalid venoms are complex mixtures of various bioactive molecules, including enzymes, proteins, peptides, and other low molecular weight components. They typically contain a variety of pharmacologically active components, such as hemotoxic and neurotoxic agents, which can cause extensive local tissue damage, coagulopathy, cardiovascular dysfunction, and neuromuscular disorders in the victim.

The composition of crotalid venoms can vary significantly between different species and even among individual specimens within the same species. This variability is influenced by factors such as geographic location, age, sex, diet, and environmental conditions. As a result, the clinical manifestations of crotalid envenomation can be highly variable, ranging from mild local reactions to severe systemic effects that may require intensive medical treatment and supportive care.

Crotalid venoms have been the subject of extensive research in recent years due to their potential therapeutic applications. For example, certain components of crotalid venoms have shown promise as drugs for treating various medical conditions, such as cardiovascular diseases, pain, and inflammation. However, further studies are needed to fully understand the mechanisms of action of these venom components and to develop safe and effective therapies based on them.

Platelet membrane glycoproteins are specialized proteins found on the surface of platelets, which are small blood cells responsible for clotting. These glycoproteins play crucial roles in various processes related to hemostasis and thrombosis, including platelet adhesion, activation, and aggregation.

There are several key platelet membrane glycoproteins, such as:

1. Glycoprotein (GP) Ia/IIa (also known as integrin α2β1): This glycoprotein mediates the binding of platelets to collagen fibers in the extracellular matrix, facilitating platelet adhesion and activation.
2. GP IIb/IIIa (also known as integrin αIIbβ3): This is the most abundant glycoprotein on the platelet surface and functions as a receptor for fibrinogen, von Willebrand factor, and other adhesive proteins. Upon activation, GP IIb/IIIa undergoes conformational changes that enable it to bind these ligands, leading to platelet aggregation and clot formation.
3. GPIb-IX-V: This glycoprotein complex is involved in the initial tethering and adhesion of platelets to von Willebrand factor (vWF) in damaged blood vessels. It consists of four subunits: GPIbα, GPIbβ, GPIX, and GPV.
4. GPVI: This glycoprotein is essential for platelet activation upon contact with collagen. It associates with the Fc receptor γ-chain (FcRγ) to form a signaling complex that triggers intracellular signaling pathways, leading to platelet activation and aggregation.

Abnormalities in these platelet membrane glycoproteins can lead to bleeding disorders or thrombotic conditions. For example, mutations in GPIIb/IIIa can result in Glanzmann's thrombasthenia, a severe bleeding disorder characterized by impaired platelet aggregation. On the other hand, increased expression or activation of these glycoproteins may contribute to the development of arterial thrombosis and cardiovascular diseases.

Hemostatics are substances or agents that promote bleeding cessation or prevent the spread of bleeding. They can act in various ways, such as by stimulating the body's natural clotting mechanisms, constricting blood vessels to reduce blood flow, or forming a physical barrier to block the bleeding site.

Hemostatics are often used in medical settings to manage wounds, injuries, and surgical procedures. They can be applied directly to the wound as a powder, paste, or gauze, or they can be administered systemically through intravenous injection. Examples of hemostatic agents include fibrin sealants, collagen-based products, thrombin, and oxidized regenerated cellulose.

It's important to note that while hemostatics can be effective in controlling bleeding, they should be used with caution and only under the guidance of a healthcare professional. Inappropriate use or overuse of hemostatic agents can lead to complications such as excessive clotting, thrombosis, or tissue damage.

Weibel-Palade bodies are rod-shaped, membrane-bound organelles found in the cytoplasm of endothelial cells, which line the interior surface of blood vessels. They were first described by Edwin Weibel and George Palade in 1964. These organelles are unique to endothelial cells and serve as storage sites for von Willebrand factor (vWF) and other proteins involved in hemostasis, inflammation, and vasomotor functions.

The main components of Weibel-Palade bodies include:

1. Von Willebrand factor (vWF): A multimeric glycoprotein that plays a crucial role in platelet adhesion and aggregation at the site of vascular injury, as well as mediating the transport of coagulation factors VIII and V.
2. P-selectin: A cell adhesion molecule that facilitates leukocyte rolling and recruitment to sites of inflammation.
3. Endothelial nitric oxide synthase (eNOS): An enzyme responsible for the production of nitric oxide, a potent vasodilator that regulates vascular tone and blood flow.
4. Angiopoietin-2: A growth factor involved in angiogenesis and vascular remodeling.
5. Tissue plasminogen activator (tPA): A serine protease that plays a role in fibrinolysis, the process of breaking down blood clots.

Upon stimulation by various agonists such as thrombin, histamine, or vascular endothelial growth factor (VEGF), Weibel-Palade bodies undergo exocytosis, releasing their contents into the extracellular space. This process contributes to hemostatic responses, inflammatory reactions, and modulation of vascular tone.

Platelet adhesiveness refers to the ability of platelets, which are small blood cells that help your body form clots to prevent excessive bleeding, to stick to other cells or surfaces. This process is crucial in hemostasis, the process of stopping bleeding after injury to a blood vessel.

When the endothelium (the lining of blood vessels) is damaged, subendothelial structures are exposed, which can trigger platelet adhesion. Platelets then change shape and release chemical signals that cause other platelets to clump together, forming a platelet plug. This plug helps to seal the damaged vessel and prevent further bleeding.

Platelet adhesiveness is influenced by several factors, including the presence of von Willebrand factor (vWF), a protein in the blood that helps platelets bind to damaged vessels, and the expression of glycoprotein receptors on the surface of platelets. Abnormalities in platelet adhesiveness can lead to bleeding disorders or thrombotic conditions.

Platelet aggregation is the clumping together of platelets (thrombocytes) in the blood, which is an essential step in the process of hemostasis (the stopping of bleeding) after injury to a blood vessel. When the inner lining of a blood vessel is damaged, exposure of subendothelial collagen and tissue factor triggers platelet activation. Activated platelets change shape, become sticky, and release the contents of their granules, which include ADP (adenosine diphosphate).

ADP then acts as a chemical mediator to attract and bind additional platelets to the site of injury, leading to platelet aggregation. This forms a plug that seals the damaged vessel and prevents further blood loss. Platelet aggregation is also a crucial component in the formation of blood clots (thrombosis) within blood vessels, which can have pathological consequences such as heart attacks and strokes if they obstruct blood flow to vital organs.

Blood coagulation tests, also known as coagulation studies or clotting tests, are a series of medical tests used to evaluate the blood's ability to clot. These tests measure the functioning of various clotting factors and regulatory proteins involved in the coagulation cascade, which is a complex process that leads to the formation of a blood clot to prevent excessive bleeding.

The most commonly performed coagulation tests include:

1. Prothrombin Time (PT): Measures the time it takes for a sample of plasma to clot after the addition of calcium and tissue factor, which activates the extrinsic pathway of coagulation. The PT is reported in seconds and can be converted to an International Normalized Ratio (INR) to monitor anticoagulant therapy.
2. Activated Partial Thromboplastin Time (aPTT): Measures the time it takes for a sample of plasma to clot after the addition of calcium, phospholipid, and a contact activator, which activates the intrinsic pathway of coagulation. The aPTT is reported in seconds and is used to monitor heparin therapy.
3. Thrombin Time (TT): Measures the time it takes for a sample of plasma to clot after the addition of thrombin, which directly converts fibrinogen to fibrin. The TT is reported in seconds and can be used to detect the presence of fibrin degradation products or abnormalities in fibrinogen function.
4. Fibrinogen Level: Measures the amount of fibrinogen, a protein involved in clot formation, present in the blood. The level is reported in grams per liter (g/L) and can be used to assess bleeding risk or the effectiveness of fibrinogen replacement therapy.
5. D-dimer Level: Measures the amount of D-dimer, a protein fragment produced during the breakdown of a blood clot, present in the blood. The level is reported in micrograms per milliliter (µg/mL) and can be used to diagnose or exclude venous thromboembolism (VTE), such as deep vein thrombosis (DVT) or pulmonary embolism (PE).

These tests are important for the diagnosis, management, and monitoring of various bleeding and clotting disorders. They can help identify the underlying cause of abnormal bleeding or clotting, guide appropriate treatment decisions, and monitor the effectiveness of therapy. It is essential to interpret these test results in conjunction with a patient's clinical presentation and medical history.

Hemophilia A is a genetic bleeding disorder caused by a deficiency in clotting factor VIII. This results in impaired blood clotting and prolonged bleeding, particularly after injuries or surgeries. Symptoms can range from mild to severe, with the most severe form resulting in spontaneous bleeding into joints and muscles, leading to pain, swelling, and potential joint damage over time. Hemophilia A primarily affects males, as it is an X-linked recessive disorder, and is usually inherited from a carrier mother. However, about one third of cases result from a spontaneous mutation in the gene for factor VIII. Treatment typically involves replacement therapy with infusions of factor VIII concentrates to prevent or control bleeding episodes.

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.

Hemorrhagic disorders are medical conditions characterized by abnormal bleeding due to impaired blood clotting. This can result from deficiencies in coagulation factors, platelet dysfunction, or the use of medications that interfere with normal clotting processes. Examples include hemophilia, von Willebrand disease, and disseminated intravascular coagulation (DIC). Treatment often involves replacing the missing clotting factor or administering medications to help control bleeding.

Hemorrhage is defined in the medical context as an excessive loss of blood from the circulatory system, which can occur due to various reasons such as injury, surgery, or underlying health conditions that affect blood clotting or the integrity of blood vessels. The bleeding may be internal, external, visible, or concealed, and it can vary in severity from minor to life-threatening, depending on the location and extent of the bleeding. Hemorrhage is a serious medical emergency that requires immediate attention and treatment to prevent further blood loss, organ damage, and potential death.

ADAM (A Disintegrin And Metalloprotease) proteins are a family of type I transmembrane proteins that contain several distinct domains, including a prodomain, a metalloprotease domain, a disintegrin-like domain, a cysteine-rich domain, a transmembrane domain, and a cytoplasmic tail. These proteins are involved in various biological processes such as cell adhesion, migration, proteolysis, and signal transduction.

ADAM proteins have been found to play important roles in many physiological and pathological conditions, including fertilization, neurodevelopment, inflammation, and cancer metastasis. For example, ADAM12 is involved in the fusion of myoblasts during muscle development, while ADAM17 (also known as TACE) plays a crucial role in the shedding of membrane-bound proteins such as tumor necrosis factor-alpha and epidermal growth factor receptor ligands.

Abnormalities in ADAM protein function have been implicated in various diseases, including cancer, Alzheimer's disease, and arthritis. Therefore, understanding the structure and function of these proteins has important implications for the development of novel therapeutic strategies.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Hematologic pregnancy complications refer to disorders related to the blood and blood-forming tissues that occur during pregnancy. These complications can have serious consequences for both the mother and the fetus if not properly managed. Some common hematologic pregnancy complications include:

1. Anemia: A condition characterized by a decrease in the number of red blood cells or hemoglobin in the blood, which can lead to fatigue, weakness, and shortness of breath. Iron-deficiency anemia is the most common type of anemia during pregnancy.
2. Thrombocytopenia: A condition characterized by a decrease in the number of platelets (cells that help blood clot) in the blood. Mild thrombocytopenia is relatively common during pregnancy, but severe thrombocytopenia can increase the risk of bleeding during delivery.
3. Gestational thrombotic thrombocytopenic purpura (GTTP): A rare but serious disorder that can cause blood clots to form in small blood vessels throughout the body, leading to a decrease in the number of platelets and red blood cells. GTTP can cause serious complications such as stroke, kidney failure, and even death if not promptly diagnosed and treated.
4. Disseminated intravascular coagulation (DIC): A condition characterized by abnormal clotting and bleeding throughout the body. DIC can be triggered by various conditions such as severe infections, pregnancy complications, or cancer.
5. Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome: A serious complication of pregnancy that can cause damage to the liver and lead to bleeding. HELLP syndrome is often associated with preeclampsia, a condition characterized by high blood pressure and damage to organs such as the liver and kidneys.

It's important for pregnant women to receive regular prenatal care to monitor for these and other potential complications, and to seek prompt medical attention if any concerning symptoms arise.

Blood platelet disorders are conditions that affect the number and/or function of platelets, which are small blood cells that help your body form clots to stop bleeding. Normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. A lower-than-normal platelet count is called thrombocytopenia, while a higher-than-normal platelet count is called thrombocytosis.

There are several types of platelet disorders, including:

1. Immune thrombocytopenia (ITP): A condition in which the immune system mistakenly attacks and destroys platelets, leading to a low platelet count. ITP can be acute (lasting less than six months) or chronic (lasting longer than six months).
2. Thrombotic thrombocytopenic purpura (TTP): A rare but serious condition that causes blood clots to form in small blood vessels throughout the body, leading to a low platelet count, anemia, and other symptoms.
3. Hemolytic uremic syndrome (HUS): A condition that is often caused by a bacterial infection, which can lead to the formation of blood clots in the small blood vessels of the kidneys, resulting in kidney damage and a low platelet count.
4. Hereditary platelet disorders: Some people inherit genetic mutations that can affect the number or function of their platelets, leading to bleeding disorders such as von Willebrand disease or Bernard-Soulier syndrome.
5. Medication-induced thrombocytopenia: Certain medications can cause a decrease in platelet count as a side effect.
6. Platelet dysfunction disorders: Some conditions can affect the ability of platelets to function properly, leading to bleeding disorders such as von Willebrand disease or storage pool deficiency.

Symptoms of platelet disorders may include easy bruising, prolonged bleeding from cuts or injuries, nosebleeds, blood in urine or stools, and in severe cases, internal bleeding. Treatment for platelet disorders depends on the underlying cause and may include medications, surgery, or other therapies.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

"Noxae" is a term derived from Latin, which means "causes of damage or injury." In medical contexts, it is used to refer to harmful agents or factors that can cause harm, damage, or disease in an organism or a biological system. These harmful agents can include physical, chemical, or biological factors such as radiation, toxins, infectious microorganisms, and mechanical injuries.

Thrombopoiesis is the process of formation and development of thrombocytes or platelets, which are small, colorless cell fragments in our blood that play an essential role in clotting. Thrombopoiesis occurs inside the bone marrow, where stem cells differentiate into megakaryoblasts, then progressively develop into promegakaryocytes and megakaryocytes. These megakaryocytes subsequently undergo a process called cytoplasmic fragmentation to produce platelets.

The regulation of thrombopoiesis is primarily controlled by the hormone thrombopoietin (TPO), which is produced mainly in the liver and binds to the thrombopoietin receptor (c-Mpl) on megakaryocytes and their precursors. This binding stimulates the proliferation, differentiation, and maturation of megakaryocytes, leading to an increase in platelet production.

Abnormalities in thrombopoiesis can result in conditions such as thrombocytopenia (low platelet count) or thrombocytosis (high platelet count), which may be associated with bleeding disorders or increased risk of thrombosis, respectively.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Blood coagulation factors, also known as clotting factors, are a group of proteins that play a crucial role in the blood coagulation process. They are essential for maintaining hemostasis, which is the body's ability to stop bleeding after injury.

There are 13 known blood coagulation factors, and they are designated by Roman numerals I through XIII. These factors are produced in the liver and are normally present in an inactive form in the blood. When there is an injury to a blood vessel, the coagulation process is initiated, leading to the activation of these factors in a specific order.

The coagulation cascade involves two pathways: the intrinsic and extrinsic pathways. The intrinsic pathway is activated when there is damage to the blood vessel itself, while the extrinsic pathway is activated by tissue factor released from damaged tissues. Both pathways converge at the common pathway, leading to the formation of a fibrin clot.

Blood coagulation factors work together in a complex series of reactions that involve activation, binding, and proteolysis. When one factor is activated, it activates the next factor in the cascade, and so on. This process continues until a stable fibrin clot is formed.

Deficiencies or abnormalities in blood coagulation factors can lead to bleeding disorders such as hemophilia or thrombosis. Hemophilia is a genetic disorder that affects one or more of the coagulation factors, leading to excessive bleeding and difficulty forming clots. Thrombosis, on the other hand, occurs when there is an abnormal formation of blood clots in the blood vessels, which can lead to serious complications such as stroke or pulmonary embolism.

Recombinant proteins are artificially created proteins produced through the use of recombinant DNA technology. This process involves combining DNA molecules from different sources to create a new set of genes that encode for a specific protein. The resulting recombinant protein can then be expressed, purified, and used for various applications in research, medicine, and industry.

Recombinant proteins are widely used in biomedical research to study protein function, structure, and interactions. They are also used in the development of diagnostic tests, vaccines, and therapeutic drugs. For example, recombinant insulin is a common treatment for diabetes, while recombinant human growth hormone is used to treat growth disorders.

The production of recombinant proteins typically involves the use of host cells, such as bacteria, yeast, or mammalian cells, which are engineered to express the desired protein. The host cells are transformed with a plasmid vector containing the gene of interest, along with regulatory elements that control its expression. Once the host cells are cultured and the protein is expressed, it can be purified using various chromatography techniques.

Overall, recombinant proteins have revolutionized many areas of biology and medicine, enabling researchers to study and manipulate proteins in ways that were previously impossible.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Interleukin-11 (IL-11) is a type of cytokine, which is a small signaling protein involved in the immune response and hematopoiesis (the formation of blood cells). IL-11 is primarily produced by bone marrow stromal cells and is involved in regulating the production and function of platelets, which are cell fragments necessary for blood clotting.

IL-11 has a number of biological activities, including promoting the growth and differentiation of megakaryocytes (the precursor cells to platelets), stimulating the production of acute phase proteins during inflammation, and regulating the function of certain immune cells. In addition, IL-11 has been shown to have effects on other tissues, including promoting the growth and survival of some cancer cells.

Dysregulation of IL-11 signaling has been implicated in a number of diseases, including thrombocytopenia (low platelet count), certain types of anemia, and various cancers.

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.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Fibrinogen is a soluble protein present in plasma, synthesized by the liver. It plays an essential role in blood coagulation. When an injury occurs, fibrinogen gets converted into insoluble fibrin by the action of thrombin, forming a fibrin clot that helps to stop bleeding from the injured site. Therefore, fibrinogen is crucial for hemostasis, which is the process of stopping bleeding and starting the healing process after an injury.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Thrombocytopenia is a medical condition characterized by an abnormally low platelet count (thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting, helping to stop bleeding when a blood vessel is damaged. A healthy adult typically has a platelet count between 150,000 and 450,000 platelets per microliter of blood. Thrombocytopenia is usually diagnosed when the platelet count falls below 150,000 platelets/µL.

Thrombocytopenia can be classified into three main categories based on its underlying cause:

1. Immune thrombocytopenia (ITP): An autoimmune disorder where the immune system mistakenly attacks and destroys its own platelets, leading to a decreased platelet count. ITP can be further divided into primary or secondary forms, depending on whether it occurs alone or as a result of another medical condition or medication.
2. Decreased production: Thrombocytopenia can occur when there is insufficient production of platelets in the bone marrow due to various causes, such as viral infections, chemotherapy, radiation therapy, leukemia, aplastic anemia, or vitamin B12 or folate deficiency.
3. Increased destruction or consumption: Thrombocytopenia can also result from increased platelet destruction or consumption due to conditions like disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), or severe bacterial infections.

Symptoms of thrombocytopenia may include easy bruising, prolonged bleeding from cuts, spontaneous nosebleeds, bleeding gums, blood in urine or stools, and skin rashes like petechiae (small red or purple spots) or purpura (larger patches). The severity of symptoms can vary depending on the degree of thrombocytopenia and the presence of any underlying conditions. Treatment for thrombocytopenia depends on the cause and may include medications, transfusions, or addressing the underlying condition.

Platelet function tests are laboratory tests that measure how well platelets, which are small blood cells responsible for clotting, function in preventing or stopping bleeding. These tests are often used to investigate the cause of abnormal bleeding or bruising, or to monitor the effectiveness of antiplatelet therapy in patients with certain medical conditions such as heart disease or stroke.

There are several types of platelet function tests available, including:

1. Platelet count: This test measures the number of platelets present in a sample of blood. A low platelet count can increase the risk of bleeding.
2. Bleeding time: This test measures how long it takes for a small cut to stop bleeding. It is used less frequently than other tests due to its invasiveness and variability.
3. Platelet aggregation tests: These tests measure how well platelets clump together (aggregate) in response to various agents that promote platelet activation, such as adenosine diphosphate (ADP), collagen, or epinephrine.
4. Platelet function analyzer (PFA): This test measures the time it takes for a blood sample to clot under shear stress, simulating the conditions in an injured blood vessel. The PFA can provide information about the overall platelet function and the effectiveness of antiplatelet therapy.
5. Thromboelastography (TEG) or rotational thromboelastometry (ROTEM): These tests measure the kinetics of clot formation, strength, and dissolution in whole blood samples. They provide information about both platelet function and coagulation factors.

These tests can help healthcare providers diagnose bleeding disorders, assess the risk of bleeding during surgery or other invasive procedures, monitor antiplatelet therapy, and guide treatment decisions for patients with abnormal platelet function.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

Macromolecular substances, also known as macromolecules, are large, complex molecules made up of repeating subunits called monomers. These substances are formed through polymerization, a process in which many small molecules combine to form a larger one. Macromolecular substances can be naturally occurring, such as proteins, DNA, and carbohydrates, or synthetic, such as plastics and synthetic fibers.

In the context of medicine, macromolecular substances are often used in the development of drugs and medical devices. For example, some drugs are designed to bind to specific macromolecules in the body, such as proteins or DNA, in order to alter their function and produce a therapeutic effect. Additionally, macromolecular substances may be used in the creation of medical implants, such as artificial joints and heart valves, due to their strength and durability.

It is important for healthcare professionals to have an understanding of macromolecular substances and how they function in the body, as this knowledge can inform the development and use of medical treatments.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Thrombosis is the formation of a blood clot (thrombus) inside a blood vessel, obstructing the flow of blood through the circulatory system. When a clot forms in an artery, it can cut off the supply of oxygen and nutrients to the tissues served by that artery, leading to damage or tissue death. If a thrombus forms in the heart, it can cause a heart attack. If a thrombus breaks off and travels through the bloodstream, it can lodge in a smaller vessel, causing blockage and potentially leading to damage in the organ that the vessel supplies. This is known as an embolism.

Thrombosis can occur due to various factors such as injury to the blood vessel wall, abnormalities in blood flow, or changes in the composition of the blood. Certain medical conditions, medications, and lifestyle factors can increase the risk of thrombosis. Treatment typically involves anticoagulant or thrombolytic therapy to dissolve or prevent further growth of the clot, as well as addressing any underlying causes.

Collagen is the most abundant protein in the human body, and it is a major component of connective tissues such as tendons, ligaments, skin, and bones. Collagen provides structure and strength to these tissues and helps them to withstand stretching and tension. It is made up of long chains of amino acids, primarily glycine, proline, and hydroxyproline, which are arranged in a triple helix structure. There are at least 16 different types of collagen found in the body, each with slightly different structures and functions. Collagen is important for maintaining the integrity and health of tissues throughout the body, and it has been studied for its potential therapeutic uses in various medical conditions.

Electrophoresis, Agar Gel is a laboratory technique used to separate and analyze DNA, RNA, or proteins based on their size and electrical charge. In this method, the sample is mixed with agarose gel, a gelatinous substance derived from seaweed, and then solidified in a horizontal slab-like format. An electric field is applied to the gel, causing the negatively charged DNA or RNA molecules to migrate towards the positive electrode. The smaller molecules move faster through the gel than the larger ones, resulting in their separation based on size. This technique is widely used in molecular biology and genetics research, as well as in diagnostic testing for various genetic disorders.

Partial Thromboplastin Time (PTT) is a medical laboratory test that measures the time it takes for blood to clot. It's more specifically a measure of the intrinsic and common pathways of the coagulation cascade, which are the series of chemical reactions that lead to the formation of a clot.

The test involves adding a partial thromboplastin reagent (an activator of the intrinsic pathway) and calcium to plasma, and then measuring the time it takes for a fibrin clot to form. This is compared to a control sample, and the ratio of the two times is calculated.

The PTT test is often used to help diagnose bleeding disorders or abnormal blood clotting, such as hemophilia or disseminated intravascular coagulation (DIC). It can also be used to monitor the effectiveness of anticoagulant therapy, such as heparin. Prolonged PTT results may indicate a bleeding disorder or an increased risk of bleeding, while shortened PTT results may indicate a hypercoagulable state and an increased risk of thrombosis.

Blood coagulation disorders, also known as bleeding disorders or clotting disorders, refer to a group of medical conditions that affect the body's ability to form blood clots properly. Normally, when a blood vessel is injured, the body's coagulation system works to form a clot to stop the bleeding and promote healing.

In blood coagulation disorders, there can be either an increased tendency to bleed due to problems with the formation of clots (hemorrhagic disorder), or an increased tendency for clots to form inappropriately even without injury, leading to blockages in the blood vessels (thrombotic disorder).

Examples of hemorrhagic disorders include:

1. Hemophilia - a genetic disorder that affects the ability to form clots due to deficiencies in clotting factors VIII or IX.
2. Von Willebrand disease - another genetic disorder caused by a deficiency or abnormality of the von Willebrand factor, which helps platelets stick together to form a clot.
3. Liver diseases - can lead to decreased production of coagulation factors, increasing the risk of bleeding.
4. Disseminated intravascular coagulation (DIC) - a serious condition where clotting and bleeding occur simultaneously due to widespread activation of the coagulation system.

Examples of thrombotic disorders include:

1. Factor V Leiden mutation - a genetic disorder that increases the risk of inappropriate blood clot formation.
2. Antithrombin III deficiency - a genetic disorder that impairs the body's ability to break down clots, increasing the risk of thrombosis.
3. Protein C or S deficiencies - genetic disorders that lead to an increased risk of thrombosis due to impaired regulation of the coagulation system.
4. Antiphospholipid syndrome (APS) - an autoimmune disorder where the body produces antibodies against its own clotting factors, increasing the risk of thrombosis.

Treatment for blood coagulation disorders depends on the specific diagnosis and may include medications to manage bleeding or prevent clots, as well as lifestyle changes and monitoring to reduce the risk of complications.

The ABO blood-group system is a classification system used in blood transfusion medicine to determine the compatibility of donated blood with a recipient's blood. It is based on the presence or absence of two antigens, A and B, on the surface of red blood cells (RBCs), as well as the corresponding antibodies present in the plasma.

There are four main blood types in the ABO system:

1. Type A: These individuals have A antigens on their RBCs and anti-B antibodies in their plasma.
2. Type B: They have B antigens on their RBCs and anti-A antibodies in their plasma.
3. Type AB: They have both A and B antigens on their RBCs but no natural antibodies against either A or B antigens.
4. Type O: They do not have any A or B antigens on their RBCs, but they have both anti-A and anti-B antibodies in their plasma.

Transfusing blood from a donor with incompatible ABO antigens can lead to an immune response, causing the destruction of donated RBCs and potentially life-threatening complications such as acute hemolytic transfusion reaction. Therefore, it is crucial to match the ABO blood type between donors and recipients before performing a blood transfusion.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

An amino acid substitution is a type of mutation in which one amino acid in a protein is replaced by another. This occurs when there is a change in the DNA sequence that codes for a particular amino acid in a protein. The genetic code is redundant, meaning that most amino acids are encoded by more than one codon (a sequence of three nucleotides). As a result, a single base pair change in the DNA sequence may not necessarily lead to an amino acid substitution. However, if a change does occur, it can have a variety of effects on the protein's structure and function, depending on the nature of the substituted amino acids. Some substitutions may be harmless, while others may alter the protein's activity or stability, leading to disease.

Protein multimerization refers to the process where multiple protein subunits assemble together to form a complex, repetitive structure called a multimer or oligomer. This can involve the association of identical or similar protein subunits through non-covalent interactions such as hydrogen bonding, ionic bonding, and van der Waals forces. The resulting multimeric structures can have various shapes, sizes, and functions, including enzymatic activity, transport, or structural support. Protein multimerization plays a crucial role in many biological processes and is often necessary for the proper functioning of proteins within cells.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

A platelet transfusion is the process of medically administering platelets, which are small blood cells that help your body form clots to stop bleeding. Platelet transfusions are often given to patients with low platelet counts or dysfunctional platelets due to various reasons such as chemotherapy, bone marrow transplantation, disseminated intravascular coagulation (DIC), and other medical conditions leading to increased consumption or destruction of platelets. This procedure helps to prevent or treat bleeding complications in these patients. It's important to note that platelet transfusions should be given under the supervision of a healthcare professional, taking into account the patient's clinical condition, platelet count, and potential risks associated with transfusion reactions.

Isoantibodies are antibodies produced by the immune system that recognize and react to antigens (markers) found on the cells or tissues of another individual of the same species. These antigens are typically proteins or carbohydrates present on the surface of red blood cells, but they can also be found on other cell types.

Isoantibodies are formed when an individual is exposed to foreign antigens, usually through blood transfusions, pregnancy, or tissue transplantation. The exposure triggers the immune system to produce specific antibodies against these antigens, which can cause a harmful immune response if the individual receives another transfusion or transplant from the same donor in the future.

There are two main types of isoantibodies:

1. Agglutinins: These are IgM antibodies that cause red blood cells to clump together (agglutinate) when mixed with the corresponding antigen. They develop rapidly after exposure and can cause immediate transfusion reactions or hemolytic disease of the newborn in pregnant women.
2. Hemolysins: These are IgG antibodies that destroy red blood cells by causing their membranes to become more permeable, leading to lysis (bursting) of the cells and release of hemoglobin into the plasma. They take longer to develop but can cause delayed transfusion reactions or hemolytic disease of the newborn in pregnant women.

Isoantibodies are detected through blood tests, such as the crossmatch test, which determines compatibility between a donor's and recipient's blood before transfusions or transplants.

Mechanical stress, in the context of physiology and medicine, refers to any type of force that is applied to body tissues or organs, which can cause deformation or displacement of those structures. Mechanical stress can be either external, such as forces exerted on the body during physical activity or trauma, or internal, such as the pressure changes that occur within blood vessels or other hollow organs.

Mechanical stress can have a variety of effects on the body, depending on the type, duration, and magnitude of the force applied. For example, prolonged exposure to mechanical stress can lead to tissue damage, inflammation, and chronic pain. Additionally, abnormal or excessive mechanical stress can contribute to the development of various musculoskeletal disorders, such as tendinitis, osteoarthritis, and herniated discs.

In order to mitigate the negative effects of mechanical stress, the body has a number of adaptive responses that help to distribute forces more evenly across tissues and maintain structural integrity. These responses include changes in muscle tone, joint positioning, and connective tissue stiffness, as well as the remodeling of bone and other tissues over time. However, when these adaptive mechanisms are overwhelmed or impaired, mechanical stress can become a significant factor in the development of various pathological conditions.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

The endothelium is a thin layer of simple squamous epithelial cells that lines the interior surface of blood vessels, lymphatic vessels, and heart chambers. The vascular endothelium, specifically, refers to the endothelial cells that line the blood vessels. These cells play a crucial role in maintaining vascular homeostasis by regulating vasomotor tone, coagulation, platelet activation, inflammation, and permeability of the vessel wall. They also contribute to the growth and repair of the vascular system and are involved in various pathological processes such as atherosclerosis, hypertension, and diabetes.

Thrombotic thrombocytopenic purpura (TTP) is a rare but serious blood disorder. It's characterized by the formation of small blood clots throughout the body, which can lead to serious complications such as low platelet count (thrombocytopenia), hemolytic anemia, neurological symptoms, and kidney damage.

The term "purpura" refers to the purple-colored spots on the skin that result from bleeding under the skin. In TTP, these spots are caused by the rupture of red blood cells that have been damaged by the abnormal clotting process.

TTP is often caused by a deficiency or inhibitor of ADAMTS13, a protein in the blood that helps to regulate the formation of blood clots. This deficiency or inhibitor can lead to the formation of large clots called microthrombi, which can block small blood vessels throughout the body and cause tissue damage.

TTP is a medical emergency that requires prompt treatment with plasma exchange therapy, which involves removing and replacing the patient's plasma to restore normal levels of ADAMTS13 and prevent further clotting. Other treatments may include corticosteroids, immunosuppressive drugs, and rituximab.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Tertiary protein structure refers to the three-dimensional arrangement of all the elements (polypeptide chains) of a single protein molecule. It is the highest level of structural organization and results from interactions between various side chains (R groups) of the amino acids that make up the protein. These interactions, which include hydrogen bonds, ionic bonds, van der Waals forces, and disulfide bridges, give the protein its unique shape and stability, which in turn determines its function. The tertiary structure of a protein can be stabilized by various factors such as temperature, pH, and the presence of certain ions. Any changes in these factors can lead to denaturation, where the protein loses its tertiary structure and thus its function.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Molecular weight, also known as molecular mass, is the mass of a molecule. It is expressed in units of atomic mass units (amu) or daltons (Da). Molecular weight is calculated by adding up the atomic weights of each atom in a molecule. It is a useful property in chemistry and biology, as it can be used to determine the concentration of a substance in a solution, or to calculate the amount of a substance that will react with another in a chemical reaction.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

"Canine von Willebrand Disease - Breed Summaries". ahdc.vet.cornell.edu. 2019-02-08. "Canine von Willebrand Disease". vetgen.com ... GeneReviews/NCBI/NIH/UW entry on von Willebrand Disease NHLBI von Willebrand Disease Expert Panel (January 2008). The Diagnosis ... Sadler JE (April 1994). "A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of ... whose von Willebrand factor levels were below the normal reference range but not low enough to be von Willebrand disease ( ...
"von Willebrand's Disease". Disease Information. American Kennel Club Canine Health Foundation. Archived from the original on 4 ... Miniature Schnauzers are also prone to von Willebrand disease (vWD). vWD in dogs is an inherited bleeding disorder that occurs ... due to qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for ... and Diseases. Barron's Educational Series. pp. 5-6. ISBN 978-0-7641-1962-0. Most experts believe that the Miniature Schnauzer ...
Von Willebrand disease is an inherited bleeding disorder. In Shelties, affected dogs as a general rule are not viable and do ... "Von Willebrand's Disease". Archived from the original on 18 September 2011. Retrieved 2 April 2011. "Canine Hip Dysplasia". ... Brewer, George J. "Sheltie von Willebrand's Disease". vetGen. Retrieved 4 April 2011. Julie B. Anderson; Kenneth S. Latimer; ... Both male and female should be tested for thyroid problems, Von Willebrands disease and brucellosis, as well as have hip x-rays ...
Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand ... Precipitating antibodies in von Willebrand's disease. Nature (1976) 262, 141-142 Zimmerman T.S., Abildgaard C.F., Meyer D. The ... Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. Thromb. Haemost. ( ... Experimental model for von Willebrand's disease. Nature (1973) 243, 293-294 Mannucci, P.M., Meyer D., Ruggeri Z.M., Koutts J., ...
LJohnson GS; Turrentine MA; Kraus, KH (1988). "Canine von Willebrand's disease". Veterinary Clinics of North America. 18 (1): ... Exercise-induced collapse Hip dysplasia Progressive retinal atrophy Type 3 von Willebrand disease Cataract Regional Alopecia in ... LaFond E, Breur GJ, Austin CC (2002). "Breed susceptibility for developmental orthopedic diseases in dogs". J Am Anim Hosp ... The breed is subject to a number of hereditary diseases. These include, but are not limited to: ...
A number of human diseases arise from mutations in VWA domains. The domain is named after the von Willebrand factor (VWF) type ... Von Willebrand factor C and EGF domain-containing protein (VWCE) Von Willebrand factor (VWF) Chordin (CHRD) Chordin-like 1 ( ... Von Willebrand factor, type C (VWFC or VWC)is a protein domain is found in various blood plasma proteins: complement factors B ... For the von Willebrand factor the duplicated VWFC domain is thought to participate in oligomerization, but not in the initial ...
A number of human diseases arise from mutations in vWA domains. Secondary structure prediction from 75 aligned vWA sequences ... The von Willebrand factor type A (vWA) domain is a protein domain named after its occurrence in von Willebrand factor (vWF), a ... Perkins SJ, Edwards YJ (1995). "The protein fold of the von Willebrand factor type A domain is predicted to be similar to the ... Smith KF, Haris PI, Chapman D, Perkins SJ, Williams SC, Sim RB (1994). "The secondary structure of the von Willebrand factor ...
This disease is caused by a lack of von Willebrand factor which plays a role in the clotting process of blood. This can cause ... Von Willebrand's disease is a hereditary bleeding disorder found in both dogs and humans. DNA testing used widespread by what ... Type I von Willebrand's disease is relatively common in the Scottish Terrier. Type I is more widespread in Doberman Pinscher, ... "What is von Willebrand's disease?". Canine Inherited Disorders Database. 30 October 2001. Retrieved 18 February 2010. Ruben, ...
May 16, 2009 Von Willebrand disease --> Complications By Mayo Clinic staff. Feb. 7, 2009 McCain J (June 2005). "The future of ... Various types of hemophilia and von Willebrand disease are the major genetic disorders associated with coagulopathy. Rare ... Different drugs can be prescribed depending on the type of disease. Vitamins (K, P and C) are essential in case of obstruction ... Have an early diagnostic test for any blood disorders or blood diseases including hemophilia, hemorrhage, and sickle-cell ...
van Genderen PJ, Leenknegt H, Michiels JJ, Budde U (September 1996). "Acquired von Willebrand disease in myeloproliferative ... An elevated CT with EPI and collagen can indicate intrinsic defects such as von Willebrand disease, uremia, or circulating ... "Acquired von Willebrand's disease in association with essential thrombocythemia: regression following treatment". Acta ... The excessive numbers create a relative von Willebrand factor deficiency due to sequestration.) One can get a clue as to ...
Von Willebrand disease and von Willebrand factor are named after him. He also researched metabolism, obesity and gout, and was ... "Erik von Willebrand-von Willebrand's Disease", Mayo Clinic Proceedings, 71 (11): 1088, doi:10.4065/71.11.1088, PMID 8917294 van ... The disorder was named after him, becoming known as von Willebrand disease. The cause of the disease was later discovered to be ... Von Willebrand, E. A. (1938). "Rasfrågor i modern belysning". Östnylandsk Ungdom (in Swedish): 5. Von Willebrand, E. A. (1939 ...
Von Willebrand disease, which occurs due to low levels of a substance called von Willebrand factor, and parahaemophilia, which ... "Haemophilia Special Issue: von Willebrand's Disease: a Report from a Meeting in the Ã…land Islands". Haemophilia. 18. 2012. doi: ... This bleeding disorder is called "Von Willebrand Disease". The term "haemophilia" is derived from the term "haemorrhaphilia" ... Coagulopathy Purpura secondary to clotting disorders Von Willebrand disease World Federation of Hemophilia "What Are the Signs ...
Recent research has shown that the stenosis causes a form of von Willebrand disease by breaking down its associated coagulation ... "Acquired von Willebrand Syndrome Associated with Cardiovascular Diseases". Journal of Atherosclerosis and Thrombosis. 26 (4): ... Risk factors known to influence disease progression of AS include factors similar to those of coronary artery disease such as ... Rare causes of aortic stenosis include Fabry disease, systemic lupus erythematosus, Paget disease, high blood uric acid levels ...
Another common bleeding disorder is Von Willebrand disease. It is caused by a deficiency or abnormal function of the "Von ... Infectious diseases such as Ebola, Marburg virus disease and yellow fever can cause bleeding.[citation needed] Dioxaborolane ... This is a rare condition that is most likely to occur in older patients and in those with autoimmune diseases. ... For instance, deficiency of Factor VIII causes classic hemophilia A while deficiencies of Factor IX cause "Christmas disease"( ...
James, Andra H. (7 May 2008). 100 Questions and Answers about Von Willebrand Disease. Jones & Bartlett Learning. p. 117. ISBN ... to raise awareness and funds for those who cannot afford treatment for this disease. "WHD 2020". www.worldhemophiliaday.org. ...
Moake JL (2004). "von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura". Seminars in Hematology. 41 (1): 4 ... "Celiac Disease". Archived from the original on 2009-07-20. Meize-Grochowski R (2005). "Celiac disease: a multisystem autoimmune ... This list of autoimmune diseases is categorized by organ and tissue type to help locate diseases that may be similar. Overview ... These conditions are included here because: The disease was listed in the prior version of this table The disease is included ...
This results in Von Willebrand disease type IIA (acquired). Von Willebrand factor is synthesized in the walls of the blood ... They also proposed a possible mechanism for the acquired von Willebrand's disease, noting that von Willebrand factor is most ... is known to be effective in people with von Willebrand's disease, including people with valvular heart disease. Desmopressin ... Desmopressin is thus sometimes used directly to treat mild to moderate acquired von Willebrand's disease and is an effective ...
New research is concluding that the von Willebrand disease is much more common in adolescence. This disease negatively hinders ... Von Willebrand disease is associated with a defect in the ability of the body to create the platelet plug and the fibrin mesh ... Mikhail, Sameh; Kouides, Peter (December 2010). "von Willebrand Disease in the Pediatric and Adolescent Population". Journal of ... and Von Willebrand factor concentrates. Current research is trying to find better ways to deal with this disease; however, much ...
Type III von Willebrand Disease is a severe bleeding disorder, like severe hemophilia type A or B. VWF acts in primary ... Mutations within vWF are the usual cause of the most common inherited bleeding disorder, von Willebrand disease. VWD has an ... Valentijn KM, Eikenboom J (April 2013). "Weibel-Palade bodies: a window to von Willebrand disease". Journal of Thrombosis and ... Valentijn KM, Eikenboom J (April 2013). "Weibel-Palade bodies: a window to von Willebrand disease". J Thromb Haemost. 11 (4): ...
von Willebrand disease - Not currently recommended unless last reserve. ddAVP is first line, followed by factor concentrates. ... von Willebrand factor 100-150 U with a half-life of 24 hours Cryoprecipitate also contains fibronectin; however there are no ... transfusion-associated graft-versus-host disease, and post-transfusion purpura. Each unit (around 10 to 15 mL) typically ...
Now it is used to assay von Willebrand disease. Several bacteria from the genus Amycolatopsis are able to enzymatically ...
... cardiovascular disease, and acquired von Willebrand syndrome". Transfusion Medicine Reviews. 17 (4): 272-86. doi:10.1016/S0887- ... von Willebrand factor (vWF) is proteolysed due to high shear stress in the highly turbulent blood flow around the aortic valve ...
Legg-Calvé-Perthes syndrome and von Willebrand disease are uncommon. Some Toy Fox Terrier breeders can trace their dogs' ... tartar build-up that can lead to periodontal disease. As well, daily brushing has been shown to be very beneficial as well as ...
"Von Willebrand's Disease (vWD): A Type of Hemophilia in Dogs". Drs. Foster & Smith, Inc. Retrieved 10 May 2009. "Genetic ... German Shepherds have a higher-than-normal incidence of Von Willebrand disease, a common inherited bleeding disorder, and ... After purchasing the dog he changed his name to Horand von Grafrath and von Stephanitz founded the Verein für Deutsche ... In 1899, von Stephanitz was attending a dog show when he was shown a dog named Hektor Linksrhein. Hektor was the product of few ...
An example a protein with calcium coordination is von Willebrand factor (vWF) which has an essential role in blood clot ... Although as a general rule, dietary supplement labeling and marketing are not allowed to make disease prevention or treatment ... Calcium modulates force sensing by the von Willebrand factor A2 domain. Nature Communications 2011 Jul 12;2:385. [1] Dougherty ... This type of dysfunction can be seen in cardiovascular diseases, hypertension, and diabetes. Calcium coordination plays an ...
... von Willebrand disease, and high blood urea levels. In hemophilia A and von Willebrand disease, it should only be used for mild ... or 2N von Willebrand disease is variable. Generally not recommended in 2B and type 3 von Willebrand disease. Desmopressin is ... is usually the first line treatment for mild to moderate type 1 von Willebrand disease. It is not recommended in severe disease ... mild or moderate type 1 von Willebrand disease and symptomatic carriers of haemophilia A". Haemophilia. 7 (3): 258-266. doi: ...
A gain-of-function mutation causes platelet-type von Willebrand disease. Autoantibodies against Ib/IX can be produced in immune ... The GPIb-V-IX complex binds von Willebrand factor, allowing platelet adhesion and platelet plug formation at sites of vascular ...
Von Willebrand disease List of hematologic conditions Bouchard, Philippe (December 2011). "Current and future medical ...
The disorder was named after him, becoming known as von Willebrand disease. The cause of the disease was later discovered to be ... a Finnish physician Erik Adolf von Willebrand (1870-1949) was consulted about a young girl with a bleeding disorder. Von ... "Erik Adolf von Willebrand", Wikipedia, 2023-01-12, retrieved 2023-08-21 "Dr Paul Warwicker : General (internal) medicine , ... This relationship and the eventual link of TTP to abnormally high levels of ultra-large Von Willebrand factor (vWF) multimers ...
... as seen in von Willebrand disease (vWD), or absence or reduction in numbers of GP1b receptors, as in Bernard-Soulier syndrome ( ... a new tool for von Willebrand disease". Journal of Thrombosis and Haemostasis. 9 (2011 Aug, 9(8)): 1645-7. doi:10.1111/j.1538- ... Ristocetin forms complexes with von Willebrand factor (vWF) that bind to the glycoprotein Ib (GP1b) receptors on platelets, ... Sibbing, D; Morath, T; Braun, S; Stegherr, J; Mehilli, J; Vogt, W; Schömig, A; Kastrati, A; von Beckerath, N (2010). " ...
"Canine von Willebrand Disease - Breed Summaries". ahdc.vet.cornell.edu. 2019-02-08. "Canine von Willebrand Disease". vetgen.com ... GeneReviews/NCBI/NIH/UW entry on von Willebrand Disease NHLBI von Willebrand Disease Expert Panel (January 2008). The Diagnosis ... Sadler JE (April 1994). "A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of ... whose von Willebrand factor levels were below the normal reference range but not low enough to be von Willebrand disease ( ...
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury ... Von Willebrand disease can have different inheritance patterns.. Most cases of type 1 and type 2 von Willebrand disease are ... Variants that severely reduce or eliminate von Willebrand factor cause type 3 von Willebrand disease. People with type 3 von ... medlineplus.gov/genetics/condition/von-willebrand-disease/ Von Willebrand disease. ...
Video: Living with Von Willebrand Disease. Meet three women and hear about their experiences living with von Willebrand Disease ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ... Source:  National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention ...
Easy bruising and excessive bleeding can be signs of Von Willebrand disease, a genetic disorder that affects bloods ability to ... What Is Von Willebrand Disease?. Von Willebrand disease, or VWD, is a genetic (inherited) bleeding disorder that prevents blood ... What Are the Types of Von Willebrand Disease?. There are various forms of VWD:. *In Type 1, the level of Von Willebrand factor ... Von Willebrand multimers test, which helps to classify the type of Von Willebrand disease ...
... and clinically heterogeneous hemorrhagic disorder caused by a deficiency or dysfunction of the protein termed von Willebrand ... Von Willebrand disease (vWD) is a common, inherited, genetically ... von Willebrand Disease) and von Willebrand Disease What to Read ... and the NHLBI von Willebrand Disease Expert Panel. The Diagnosis, Evaluation, and Management of von Willebrand Disease. ... Recombinant von Willebrand factor prophylaxis in patients with severe von Willebrand disease: phase 3 study results. Blood. ...
Von-Willebrand Disease. Von Willebrand Disease is caused by low levels of functional von Willebrand factor. Von Willebrand ... Treatment is with infusion of von Willebrand factor into the vein or by releasing stored von Willebrand factor using ... There are at least 6 types of von Willebrand Disease. Testing can be complex and requires tests of protein levels as well as ... the function of von Willebrand factor and often examination of the von Willebrand factor gene. ...
Home » companies » von Willebrand disease. von Willebrand disease. Vega enters the galaxy with bleeding disorder antibody set ... Abbott Laboratories AbbVie Allergan Alzheimers disease Amgen AstraZeneca Biogen biotech Bristol-Myers Squibb cancer Celgene ... Baxalta wins FDA approval with a treatment for a rare bleeding disease ... Baxalta wins FDA approval with a treatment for a rare bleeding disease ...
Von Willebrand disease, or other bleeding disorders including preparation and packing. ... such as hemophilia or Von Willebrand disease, need to take extra precautions before setting out on a travel excursion. Whether ... Familiarize yourself with the Center for Disease Control website, Travel Safe with a Bleeding Disorder, as the site has a lot ...
... von Willebrand disease - Sharing our stories on preparing for and responding to public health events ... Bleeding disorders, such as hemophilia and von Willebrand disease (VWD), are conditions Read More , ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
von Willebrand Disease. Personal I have nosebleed all my life and I gave up treating it after many failed attempts. Now both ... I went to see a specialist in blood disorders and he wanted to check to see if I have the von Willebrand disease. I checked the ... blood test result today and I have low von Willebrand and low factor 8. The nurse only provided me the results and scheduled me ...
ASH Submits Proposal for New ICD-10 Diagnosis Codes for von Willebrand Disease ... ASH Submits Proposal for New ICD-10 Diagnosis Codes for von Willebrand Disease. Dec 09 ... ASH Submits Proposal for New ICD-10 Diagnosis Codes for von Willebrand Disease ... and-correspondence/testimony-and-correspondence/ash-submits-proposal-for-new-icd-10-diagnosis-codes-for-von-willebrand-disease ...
Von Willebrands Disease Key Companies. Von Willebrands Disease Key Products. Von Willebrands Disease- Unmet Needs. Von ... Von Willebrands Disease Understanding. Von Willebrands Disease: Overview. People with von Willebrand disease (VWD) have a ... Von Willebrands Disease- Future Perspectives and Conclusion. Von Willebrands Disease Analyst Views. Von Willebrands Disease ... Von Willebrands Disease Emerging Drugs Chapters. This segment of the Von Willebrands Disease report encloses its detailed ...
Von Willebrand Disease (Vascular Hemophilia or pseudohemophilia)[edit , edit source]. *Caused by lack of von Willebrand factor ... Hemophilia and Von Willebrand Disease Hemophilia (- term to include hemophilia A (factor 8), hemophilia B (factor 9) and von ... Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease. From Wikibooks, open books for an open world ... von Willebrand protein is also a carrier protein for Factor 8 = if it is not working properly you have decreased factor 8 as ...
Von Willebrand Disease (VWD) is a rare blood disorder that affects how the body forms blood clots. It can cause a range of ... If you or someone you know is living with von Willebrand Disease, then you know how important it is to stay informed and up-to- ... Von Willebrand Disease (VWD) is an inherited blood-clotting disorder that affects both sexes. It causes people to have ... We hope this article has been useful in providing you with an overview of the basics of Von Willebrand Disease. Remember, if ...
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Von Willebrand Disease in the Netherlands. Publication. Publication. De ziekte van von Willebrand in Nederland ... de Wee, E.M. (2011, October 26). Von Willebrand Disease in the Netherlands. Erasmus University Rotterdam. Retrieved from http ... studies it is estimated that in the Netherlands the referral based prevalence of moderate to severe von Willebrand disease (VWD ... Despite the frequency of the disease only a limited number of studies have been performed on clinical presentation, ...
Von Willebrands disease type I as a cause for subvitreal, retinal and subretinal haemorrhages. Graefes Arch Clin Exp ... An infant with subdural hematoma and retinal hemorrhages: does von Willebrand disease explain the findings?. *Case Report ... Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. Acta Haematol. 2009;121:85-97. ... von Willebrand disease and bleeding in women. Haemophilia. 1999;5:313-7. ...
The vWD market research report offers an overview of vWD, including epidemiology, symptoms, diagnosis, and disease management. ... The von Willebrand Disease (vWD) market size in the three major markets (3MM) (US, Germany, and UK) was $892 million in 2022. ... 2 Disease Overview. 2.1 Overview of von Willebrand Disease. 2.2 Classification of von Willebrand Disease. 3 Epidemiology. 3.1 ... 7.2 Trends in Deal-Making in von Willebrand Disease. 8 Market Outlook. 8.1 von Willebrand Disease Sales Forecast. 8.2 von ...
What the Anesthesiologist Should Know before the Operative Procedure Von Willebrand disease (VWD) is the most common inherited ... Von Willebrand disease (VWD) is the most common inherited bleeding disorder, with a prevalence of 1% to 2% in the general ... Favolor, E.. "The Utility of the PFA-100 in the Identification of von Willebrand Disease: A Concise Review". Semin Thromb ... and plasma concentrates that contain von Willebrand factor. At least three Von Willebrand Factor Replacement products are FDA ...
Early diagnosis of von Willebrand disease (VWD) is important to make sure that youre treated and can live a normal, active ... Diagnosing Von Willebrand Disease. Early diagnosis of von Willebrand disease (VWD) is important to make sure that youre ... Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works. ... Von Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood. ...
Dominant type I von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood ... Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: ... Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous ... Autosomal recessive disease, C2362F, Desmopressin response, Multimeric patterns, von Willebrand disease type 3 ...
Von Willebrand disease (vWD) is the most common inherited bleeding disorder; laboratory diagnosis requires a number of assays ... The contribution of multimer analysis in the diagnosis of von Willebrand disease Webinar ...
Von Willebrand Disease Market Size, Share, Trends, By Type (Type 1 Von Willebrand disease, Type 2 Von Willebrand disease, Type ... 3 Von Willebrand disease), By Route of Administration (Oral, Parenteral, Others), By Product (Injection, Tablets or Capsules, ... Von Willebrand Disease Market. Von Willebrand Disease Market Size, Share, Trends, By Type (Type 1 Von Willebrand disease, Type ... 2 Von Willebrand disease, Type 3 Von Willebrand disease), By Route of Administration (Oral, Parenteral, Others), By Product ( ...
Annette BOWYER, this presentation will discuss the diagnosis of von Willebrand disease in the laboratory and the use of the ... A reduction or dysfunction of vWF causes the Haemorrhagic disorder von Willebrand disease (vWD). VWD is the commonest bleeding ... The contribution of multimer analysis in the diagnosis of von Willebrand disease. ... The contribution of multimer analysis in the diagnosis of von Willebrand disease ...
The heterogeneity of von Willebrand disease (VWD) makes individualized care planning essential to optimize quality of life and ... The heterogeneity of von Willebrand disease (VWD) makes individualized care planning essential to optimize quality of life and ... Individualizing von Willebrand Disease Treatment Strategies for Patients With Severe and Frequent Bleeds. ...
Acquired von Willebrand Disease (AvWD) Treatment Market Size, Market Share, Application Analysis, Regional Outlook, Growth ... The acquired von Willebrand disease prevalence represents about 1% to 5% of all von Willebrand disease. Its prevalence is ... Market Snapshot: Global Acquired von Willebrand Disease (AvWD) Treatment Market. 2.2. Global Acquired von Willebrand Disease ( ... Von Willebrand disease is caused by a deficiency in the protein known as the Von Willebrand factor, which is present in the ...
Type 2A von Willebrands disease (VWD) refers to disease variants with decreased platelet-dependent function of von Willebrand ... A new candidate mutation, G1629R, in a patient with type 2A von Willebrands disease: basic mechanisms and clinical ... A new candidate mutation, G1629R, in a patient with type 2A von Willebrands disease: basic mechanisms and clinical ...
Symptoms of von Willebrand Disease. Language. : English. Español. Change language to Español ...
Types of von Willebrand Disease. Language. : English. Español. Change language to Español ... Type 3 von Willebrand Disease. Type 3 is the rarest type of VWD. About one person in a million has it. Type 3 also has the most ... Type 1 von Willebrand Disease. Type 1 VWD is the most common type. About 85% of the people with VWD have this type. In Type 1 ... Type 2 von Willebrand Disease. Type 2 VWD is the next most common type. About 15% of people with VWD have Type 2. They usually ...
Urgent message: Vaginal bleeding is a common presentation in the urgent care setting. An assessment of hemodynamic status, as well as an understanding of potential causes, is necessary to initiate treatment and triage the patient correctly. Thomas Sunshine, MD Introduction Patients presenting with what they perceive to be vaginal bleeding will not know whether that bleeding is specifically uterine, cervical, or (rarely) vaginal in origin. It is incumbent upon the urgent care provider to have …. Read More ...
  • Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. (wikipedia.org)
  • Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene variants (also called mutations). (medlineplus.gov)
  • Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder. (medlineplus.gov)
  • Von Willebrand disease, or VWD, is a genetic (inherited) bleeding disorder that prevents blood from clotting properly. (kidshealth.org)
  • Von Willebrand disease is the most common bleeding disorder, and affects males and females equally. (kidshealth.org)
  • Von Willebrand disease (vWD) is a common, inherited, genetically and clinically heterogeneous hemorrhagic disorder caused by a deficiency or dysfunction of the protein termed von Willebrand factor (vWF). (medscape.com)
  • I n addition to purchasing travel insurance , booking accommodations, and getting up-to-date on immunizations, people with a bleeding disorder, such as hemophilia or Von Willebrand disease, need to take extra precautions before setting out on a travel excursion. (matadornetwork.com)
  • Familiarize yourself with the Center for Disease Control website, Travel Safe with a Bleeding Disorder , as the site has a lot of great information. (matadornetwork.com)
  • Von Willebrand Disease (VWD) is an inherited blood-clotting disorder that affects both sexes. (brusselstribunal.org)
  • Von Willebrand disease (VWD) is the most common inherited bleeding disorder, with a prevalence of 1% to 2% in the general population. (renalandurologynews.com)
  • A reduction or dysfunction of vWF causes the Haemorrhagic disorder von Willebrand disease (vWD). (sebia.com)
  • Acquired von Willebrand syndrome is a highly heterogeneous bleeding disorder, usually displays mild to moderate hemorrhagic symptoms that may at times be severe too. (researchandmarkets.com)
  • Von Willebrand disease is a fairly prevalent bleeding disorder, according to the World Federation of Hemophilia. (researchandmarkets.com)
  • Von Willebrand is an inheritable blood disorder. (newpaltz.edu)
  • The most common bleeding disorder is von Willebrand disease (VWD) which affects 1% of the world's population. (cslbehring.ae)
  • Von Willebrand disease (VWD) is a bleeding disorder. (hemofilici.cz)
  • von Willebrand factor (vWF), the macromolecular plasma glycoprotein named for its contribution to the hereditary bleeding disorder known as von Willebrand disease (vWD), functions as a key regulator of primary hemostasis. (biomedcentral.com)
  • The most common inherited bleeding disorder, von Willebrand disease (VWD) has also been one of the most difficult to diagnose. (hemaware.org)
  • A bleeding disorder caused by quantitative or qualitative defects in von Willebrand factor (vWF) activity, which increases the risk of bleeding. (thebloodproject.com)
  • According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. (bartleby.com)
  • A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. (nih.gov)
  • Abnormalities in VWF function result in von Willebrand disease (VWD), the most common inherited bleeding disorder in humans. (mhmedical.com)
  • The factor is named after the Finnish physician Erik Adolf von Willebrand who first described the condition in 1926. (wikipedia.org)
  • Von Willebrand multimers = look to see if the reason it is not functioning is because the larger multimers are not present. (wikibooks.org)
  • Alongside her doctorate research, she also performs diagnostic tests for the Centre Haemostasis & Thrombosis of the Hospital-University of Ferrara, including von Willebrand multimers analysis. (sebia.com)
  • BACKGROUND AND OBJECTIVES: Type 2A von Willebrand's disease (VWD) refers to disease variants with decreased platelet-dependent function of von Willebrand factor (VWF) associated with the absence of high molecular weight (HMW) multimers. (haematologica.org)
  • The most common subtype found in the general population is type-1 disease (approximately 90%) and is characterized by a simple decrease in the level of plasma FVIII: VWF antigen and activity. (renalandurologynews.com)
  • Von Willebrand factor antigen. (hoacny.com)
  • If the factor VIII, von Willebrand factor (VWF) antigen, VWF activity and VWF activity:VWF antigen ratio are normal, a computer-generated interpretive comment indicating no evidence of von Willebrand disease will be provided. (testcatalog.org)
  • whole blood after collection should not be stored at refrigerator (+2C° to +4C°) owing to cold-induced binding von Willebrand factor (vWF) to platelets and selective loss of vWF antigen (vWF:Ag) in plasma. (medscape.com)
  • Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life. (hoacny.com)
  • Von Willebrand disease is a hereditary deficiency or abnormality of the blood protein von Willebrand factor , which affects platelet function, causing excessive bleeding. (msdmanuals.com)
  • DelveInsight's, " Von Willebrand's Disease - Pipeline Insight, 2022 ," report provides comprehensive insights about 4+ companies and 4+ pipeline drugs in Von Willebrand's Disease pipeline landscape. (marketresearch.com)
  • Von Willebrand's Disease - Pipeline Insight, 2022"" report by DelveInsight outlays comprehensive insights of present scenario and growth prospects across the indication. (marketresearch.com)
  • The von Willebrand Disease (vWD) market size in the three major markets (3MM) (US, Germany, and UK) was $892 million in 2022. (globaldata.com)
  • The acquired von willebrand disease treatment market is anticipated to grow, at a CAGR of 5.86% during the forecast period of 2022 to 2030. (researchandmarkets.com)
  • CAMBRIDGE, Massachusetts, January 31, 2022 - Takeda Pharmaceutical Company Limited ("Takeda") today announced that the U.S. Food & Drug Administration (FDA) approved VONVENDI ® [von Willebrand factor (Recombinant)] for routine prophylaxis to reduce the frequency of bleeding episodes in patients with severe Type 3 von Willebrand disease (VWD) receiving on-demand therapy. (hemophiliafed.org)
  • Although initial analyses were normal, repeated testing of the coagulation-fibrinolysis system led to a diagnosis of mild von Willebrand disease (vWD) Type 1. (springer.com)
  • If any test results in the profile are abnormal, all results will be reviewed by a coagulation consultant and a von Willebrand Disease Profile Interpretation (AVWPQ) will be provided. (testcatalog.org)
  • Hemophilia and the von Willebrand diseases are the most common of all hereditary blood coagulation disorders and must be detected before conducting any dental treatment. (bvsalud.org)
  • Von Willebrand's disease is one of the most common hereditary bleeding disorders in dogs. (petinsurancequotes.com)
  • Treatment is with infusion of von Willebrand factor into the vein or by releasing stored von Willebrand factor using desmopressin. (emoryhealthcare.org)
  • requires infusion of Von Willebrand factor concentrate and/or surgery. (brusselstribunal.org)
  • Symptoms of von Willebrand disease may change over time. (medlineplus.gov)
  • What Are the Signs & Symptoms of Von Willebrand Disease? (kidshealth.org)
  • Those with a more severe form of the disease, though, need proper diagnosis and a treatment plan to help them reduce bleeding symptoms. (kidshealth.org)
  • This article will provide an overview of von Willebrand Disease, its symptoms, diagnosis, and treatments available. (brusselstribunal.org)
  • While most cases are noticed in the early months or years of a dog's life, it's quite possible for the puppy not to expressly show symptoms of the disease and exhibit these symptoms later on in its life. (petinsurancequotes.com)
  • This is because other medical conditions like hypothyroidism and infection as well as certain drugs could exacerbate symptoms of this disease. (petinsurancequotes.com)
  • Aside from taking the medical history and performing a physical exam on the dog, the veterinarian may also request for specialized testing to diagnose von Willebrand's disease and/or rule out other conditions that may cause the same set of symptoms. (petinsurancequotes.com)
  • Variants in the VWF gene cause von Willebrand disease. (medlineplus.gov)
  • The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots . (medlineplus.gov)
  • Variants in the VWF gene that reduce the amount of von Willebrand factor cause type 1 von Willebrand disease. (medlineplus.gov)
  • Testing can be complex and requires tests of protein levels as well as the function of von Willebrand factor and often examination of the von Willebrand factor gene. (emoryhealthcare.org)
  • Castaman G, Federici AB, Rodeghiero F, Mannucci PM: Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. (karger.com)
  • Castaman G, Novella E, Castiglia E, Eikenboom JCJ, Rodeghiero F: A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. (karger.com)
  • Less commonly, people can develop von Willebrand disease without inheriting an abnormal gene, and this condition is called acquired von Willebrand disease. (msdmanuals.com)
  • Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. (nih.gov)
  • Determination of the binding capacity of factor VIII for von Willebrand factor allows differential diagnosis with regard to haemophilia A. (stago-us.com)
  • BT 200 is a pegylated synthetic RNA oligonucleotide is being developed by Band Therapeutics for the prevention of arterial thrombosis and treatment of Von Willebrand's Disease. (marketresearch.com)
  • The three types of von Willebrand disease are classified based on the amount of von Willebrand factor that is produced or its ability to function. (medlineplus.gov)
  • What Are the Types of Von Willebrand Disease? (kidshealth.org)
  • There are at least 6 types of von Willebrand Disease. (emoryhealthcare.org)
  • There are three main types of von Willebrand disease. (cslbehring.ae)
  • https://www.hematology.org/advocacy/policy-news-statements-testimony-and-correspondence/testimony-and-correspondence/ash-submits-proposal-for-new-icd-10-diagnosis-codes-for-von-willebrand-disease (label-accessed September 23, 2023). (hematology.org)
  • A detailed picture of the Von Willebrand's Disease pipeline landscape is provided which includes the disease overview and Von Willebrand's Disease treatment guidelines. (marketresearch.com)
  • The assessment part of the report embraces, in depth Von Willebrand's Disease commercial assessment and clinical assessment of the pipeline products under development. (marketresearch.com)
  • In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Von Willebrand's Disease collaborations, licensing, mergers and acquisition, funding, designations and other product related details. (marketresearch.com)
  • The companies and academics are working to assess challenges and seek opportunities that could influence Von Willebrand's Disease R&D. The therapies under development are focused on novel approaches to treat/improve Von Willebrand's Disease. (marketresearch.com)
  • This segment of the Von Willebrand's Disease report encloses its detailed analysis of various drugs in different stages of clinical development, including phase II, I, preclinical and Discovery. (marketresearch.com)
  • The drug is currently in phase II stage of clinical trial evaluation for the treatment of Von Willebrand's Disease. (marketresearch.com)
  • 4+ key companies which are developing the therapies for Von Willebrand's Disease. (marketresearch.com)
  • The companies which have their Von Willebrand's Disease drug candidates in the most advanced stage, i.e. phase II include, Band Therapeutics. (marketresearch.com)
  • Von Willebrand's Disease pipeline report provides the therapeutic assessment of the pipeline drugs by the Route of Administration. (marketresearch.com)
  • Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E: Recessive inheritance of von Willebrand's disease type I. Lancet 1993;341:982-986. (karger.com)
  • There are even some dogs that carry the genes for von Willebrand's disease without exhibiting any signs of bleeding. (petinsurancequotes.com)
  • However, this test is not specific to von Willebrand's disease since other bleeding disorders may reflect the same prolonged bleeding result. (petinsurancequotes.com)
  • This specialized diagnostic test measures the concentration of von Willebrand's factor present in the blood sample. (petinsurancequotes.com)
  • Anyways, apparently Mallie has genetically carried canine von Willebrand's Disease so his blood doesn't clot right. (orchidsforum.com)
  • Similar to hemophilia in humans, von Willebrand's disease can result in life-threatening bleeding. (agapevet.net)
  • If you are a breeder, we strongly recommend testing for von Willebrand's disease before breeding your dogs. (agapevet.net)
  • Assay of von Willebrand factor ristocetin cofactor activity measures ristocetin-induced binding of von Willebrand factor to platelet glycoprotein GPIb. (stago-us.com)
  • Factor VIII is reduced whereas von Willebrand factor ristocetin cofactor is normal, as is binding of factor VIII to von Willebrand factor. (stago-us.com)
  • Patients with von Willebrand disease typically display a normal prothrombin time and a variable prolongation of partial thromboplastin time. (wikipedia.org)
  • Based on previous epidemiologic studies it is estimated that in the Netherlands the referral based prevalence of moderate to severe von Willebrand disease (VWD) is approximately 1 in 10,000 (1650 patients). (eur.nl)
  • This does not include patients with mild type 1 disease (VWF levels 30-50 U/dL), or individuals with borderline VWF levels with a mild bleeding phenotype, of which the prevalence is higher and may even reach 1:100 individuals. (eur.nl)
  • The majority of patients who do not have type-1 disease have type-II variants. (renalandurologynews.com)
  • therefore, the majority of patients with VWD achieve a clinical and laboratory remission of the disease during pregnancy, and treatment with 1-deamino-8-D-arginine vasopressin (DDAVP) or blood transfusion is usually not necessary. (renalandurologynews.com)
  • Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F: Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. (karger.com)
  • The platelet count may be depressed in some patients with type 2B von Willebrand disease, in whom fluctuating thrombocytopenia of varying severity may be seen. (stago-us.com)
  • Practitioners think the new von Willebrand disease test will make a difference for their patients. (hemaware.org)
  • The dentist must be prepared to offer the most appropriate treatment option to these patients, which depends on the severity of the disease and the type of procedure to be carried out. (bvsalud.org)
  • RESULTS: Of the 185 patients, five women were diagnosed with mild von Willebrand disease and one male with mild hemophilia A. The remaining 179 subjects (76% females and 24% males with average ages of 33 and 28 years, respectively) were evaluated further. (lu.se)
  • Our results reveal that there is a considerably higher than expected prevalence of putative disease alleles and variants associated with VWD and suggest that a large number of VWD patients are undiagnosed. (cdc.gov)
  • Blood samples were investigated for thrombin generation (TG) capacity (Technoclone), in platelet poor (PPP) plasma, and specific clotting factors, i.e., von Willebrand factor, factor VIII and IX, as well as INR, APTT, platelet count, and platelet adhesion. (lu.se)
  • Von Willebrand disease is caused by a deficiency in the protein known as the Von Willebrand factor, which is present in the blood. (researchandmarkets.com)
  • Von Willebrand?s disease (vWD) is a blood disease caused by a deficiency of von Willebrand Factor (vWF), an adhesive glycoprotein in the blood required for normal blood clotting. (dogwellnet.com)
  • Meet three women and hear about their experiences living with von Willebrand Disease. (cdc.gov)
  • If you or someone you know is living with von Willebrand Disease, then you know how important it is to stay informed and up-to-date on the condition. (brusselstribunal.org)
  • People with type 2 von Willebrand disease can have bleeding episodes of varying severity depending on the extent of the von Willebrand factor abnormalities, but the bleeding episodes are typically similar to those seen in type 1. (medlineplus.gov)
  • Assay of collagen binding of von Willebrand factor (VWF:CB) can be used to detect abnormalities in VWF multimerisation. (stago-us.com)
  • Assay of factor VIII (FVIII:C) generally reveals a decrease, although it is still higher than the level of von Willebrand factor, except in type 2N von Willebrand disease. (stago-us.com)
  • Title : Reagent substitutions in the Centers for Disease Control and Prevention Nijmegen-Bethesda assay for factor VIII inhibitors Personal Author(s) : Miller, C. H.;Payne, A. B.;Driggers, J.;Ellingsen, D.;Boylan, B.;Bean, C. J. (cdc.gov)
  • It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. (wikipedia.org)
  • Von Willebrand factor (vWF) is a large multimeric protein that plays an important role in primary Haemostasis. (sebia.com)
  • von Willebrand factor (vWF) is multimeric protein (molecular weight varies from 500-20,000 kd) that is assembled from identical monomers in endothelial cells and megakaryocytes and can be released from endothelium and platelets upon activation. (medscape.com)
  • People with von Willebrand disease (VWD) have a problem with a protein called von Willebrand factor (VWF). (marketresearch.com)
  • In layman's terms, this disease is caused by either missing or low levels of a protein called the von Willebrand Factor, which is necessary to aid in blood clotting successfully. (newpaltz.edu)
  • In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). (medlineplus.gov)
  • For a long time, autosomal recessive inheritance has been considered a unique feature of type 3 von Willebrand disease (VWD), which is characterized by the virtual absence of von Willebrand factor (VWF) in plasma and storage compartments. (karger.com)
  • This type is the most severe of the three and is characterized by the complete absence of von Willebrand factor. (petinsurancequotes.com)
  • Treatment typically includes infusing Von Willebrand factor concentrate, which is a blood product, and medications such as desmopressin and antifibrinolytics to help the blood clot . (brusselstribunal.org)
  • My experience with the Desmopressin (Ddavp) challenge test for von Willebrand involved having intravenous in both arms and bloodwork being taken every few hours as I spent my day in an infusion center. (newpaltz.edu)
  • Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ: Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. (karger.com)
  • Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. (hoacny.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)
  • Acquired VWF deficiency can be seen in certain clinical settings such as lymphoproliferative and myeloproliferative syndromes, certain types of cancer and certain autoimmune diseases , as well as in aortic valve stenosis. (stago-us.com)
  • Plasma von Willebrand factor in connective tissue disease. (bmj.com)
  • For more information see AVWPR / von Willebrand Disease Profile, Plasma. (testcatalog.org)
  • GC-related plasma vWF:Ag and vWF activity levels become substantially elevated in the late stage of disease. (biomedcentral.com)
  • vWD type IIN, sometimes referred to as vWD Normandy (after the province of origin of one of the first families identified with the disease), is characterized by a defect residing within the patient's plasma vWF that interferes with its ability to bind FVIII. (medscape.com)
  • Because ALPHANATE is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent, despite steps designed to reduce this risk. (alphanate.com)
  • There are 3 forms of the disease, depending on the structure and quantity of plasma von Willebrand factor. (petinsurancequotes.com)
  • The von Willebrand factor is present in plasma, platelets, and the walls of blood vessels. (msdmanuals.com)
  • Association of ABO(H) and I blood group system development with von Willebrand factor and Factor VIII plasma levels in children and adolescents. (medscape.com)
  • Variants that impair the function of von Willebrand factor cause the four subtypes of type 2 von Willebrand disease. (medlineplus.gov)
  • Up to six different subtypes of the disease have been identified, and diagnosis is based on clinical suspicion and laboratory confirmation. (renalandurologynews.com)
  • The demand for the AvWD treatment market has increased as governments across the globe have become increasingly aware of the von Willebrand syndrome and its associated treatment. (researchandmarkets.com)
  • VWD is caused by either a quantitative or qualitative defect in the Willebrand factor (VWF), and has an autosomal dominant pattern of inheritance. (renalandurologynews.com)
  • I went to see a specialist in blood disorders and he wanted to check to see if I have the von Willebrand disease . (visualgui.com)
  • Genetic testing is typically not part of the initial workup for von Willebrand disease, and is not needed for people diagnosed with type 1 VWD based on clinical history and laboratory tests. (wikipedia.org)
  • Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. (springer.com)
  • Rodeghiero F, Castaman G: von Willebrand disease type 1: definition, phenotypes, clinical and laboratory assessment. (karger.com)
  • Laboratory signs are identical to those of von Willebrand disease. (stago-us.com)
  • VWD is typically an inherited disease and caused by deficient or defective von Willebrand Factor (VWF). (cslbehring.ae)
  • When the von Willebrand factor is missing or defective, platelets cannot adhere to the vessel wall at the site of an injury. (msdmanuals.com)
  • This type of von Willebrand disease is common in breeds like Doberman Pinscher, Airedale, Golden Retriever, Standard Poodle, German Shepherd, and Shetland sheepdog. (petinsurancequotes.com)
  • We offer testing for this disease, which is a highly inheritable trait in some breeds. (agapevet.net)
  • Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. (medlineplus.gov)
  • Clinical signs of this disease range from mild to severe bleeding. (petinsurancequotes.com)
  • Despite the fact that my disease is common and affects 3.2 million people in the United States alone, every time I mention von Willebrand to someone they seem to be so confused. (newpaltz.edu)
  • This condition is due to a deficiency of a specific protein, the von Willebrand factor (vWf), which is necessary for platelets to stick together to form a clot. (petinsurancequotes.com)
  • On the other hand, hormonal changes, pregnancy, inflammation, and infections may stimulate the body to increase production of von Willebrand factor and temporarily improve the capacity of platelets to stick to the blood vessel wall and stop bleeding. (msdmanuals.com)
  • reduce the number of bleeding episodes when used regularly (prophylaxis) in adults with severe Type 3 von Willebrand disease receiving on-demand therapy. (hemophiliafed.org)
  • Castaman G, Bertoncello K, Bernardi M, Eikenboom JC, Budde U, Rodeghiero F: Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. (karger.com)
  • Pseudo , or platelet-type , Von Willebrand disease is similar to type 2B, but the defect is in the platelets instead of in the factor. (kidshealth.org)
  • Hemophilia is a genetic disease where there is a defect in the series of protein that forms blood clots. (bartleby.com)
  • Many dogs that carry this disease in their genetic makeup go undetected until a minor surgery or small, superficial injury results in significant blood loss. (agapevet.net)
  • Some animals show no signs of the disease but are carriers of this genetic problem. (agapevet.net)
  • In particular, personalized medicine approaches in chronic kidney disease (CKD) aim to tailor treatment strategies based on underlying causes, genetic factors, the rate of disease progression, and other personalized factors. (cdc.gov)
  • Von Willebrand factor acts as a glue that holds blood clots together and prevents the breakdown of other blood clotting proteins. (medlineplus.gov)
  • In types 2M and 2N, von Willebrand factor is unable to interact with other structures or proteins needed to form blood clots. (medlineplus.gov)
  • Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. (bartleby.com)
  • As one of the most lethal malignant diseases, a strong correlation exists between GC and aberrant hemostasis. (biomedcentral.com)
  • von Willebrand factor (VWF) is a central component of hemostasis, serving both as an adhesive link between platelets and the injured blood vessel wall and as a carrier for clotting factor VIII (FVIII). (mhmedical.com)
  • Despite the frequency of the disease only a limited number of studies have been performed on clinical presentation, determinants of bleeding phenotype and Quality of Life (QoL). (eur.nl)
  • Eikenboom JC: von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. (karger.com)
  • Wiseguy reports clinical trial report, "Von Willebrand Disease (Factor VIII Deficiency) Global Clinical Trials Review, H2, 2016' provides an overview of Von Willebrand Disease (Factor VIII Deficiency) clinical trials scenario. (marketersmedia.com)
  • This report provides top line data relating to the clinical trials on Von Willebrand Disease (Factor VIII Deficiency). (marketersmedia.com)
  • The report offers coverage of disease clinical trials by region, country (G7 & E7), phase, trial status, end points status and sponsor type. (marketersmedia.com)
  • Pseudo von Willebrand disease is a platelet disease involving increased affinity of GPIb platelets for von Willebrand factor with variable levels of thrombocytopenia. (stago-us.com)
  • Differential diagnosis between pseudo von Willebrand disease and type 2B von Willebrand disease can only be performed at specialised laboratories. (stago-us.com)