The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Because this gene alteration is not present in his parents or in 50 normal and 25 affected subjects, and the restriction fragment length polymorphism haplotypes are inherited normally in the patient's family, we suggest that a de novo mutation is present [sveb.unife.it]

Presentation: 4 microgram/mL injection (Minirin®) 15 microgram/mL injection (Octostim®). Octostim® is preferred for subcutaneous injection due to its higher concentration. [rch.org.au]

In practice - both primary and secondary - the patients with more severe forms of the disorder will present with abnormal bleeding. [patient.info]

Presently, all of the standard and more advanced laboratory tests are performed under static conditions. [bloodjournal.org]

• Collapse

  In preliminary experiments, the entire fixation process in perfusion of blood containing mepacrine-labeled platelets was observed in real time by epifluorescence microscopy to confirm fixation of the generated platelet thrombi without collapse or detachment [bloodjournal.org]

• Regurgitation

  Moderate and severe aortic stenosis, severe aortic regurgitation, severe mitral regurgitation, hypertrophic obstructive cardiomyopathy, congenital heart diseases, left ventricular assist devices, and other vascular lesions also frequently induce acquired [jamanetwork.com]

  One month after surgery, the deficit had resolved, in all but the patients who had aortic valve prosthesis mismatch. 50 consecutive patients with severe mitral regurgitation were studied at the same time, but no differences in pre- and postoperative vWF [ganfyd.org]

• Dysmenorrhea

  The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia. [ncbi.nlm.nih.gov]

• Excitement

  Emission and excitation spectra of FRET proteins. [journals.plos.org]

  Cy2 fluorescence (green) was examined at an excitation wavelength of 488 nm with a barrier filter at 500 nm, whereas Cy3 fluorescence (orange) was at an excitation wavelength of 529 nm with a barrier filter at 550 nm to assess the distribution of fibrinogen [bloodjournal.org]

• Rabies

  Thromb Haemost 1992; 67: 612-617 17 Inbal A, Seligsohn U, Kombrot N, Brenner B, Harrison P, Randi A, Rabi-nowitz I, Sadler JE. Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families. [thieme-connect.com]

Initial Von Willebrand Disease Assays If the patient has a significant history of mucocutaneous bleeding, VWD assays should be included as part of the initial workup. [arupconsult.com]

An initial hemostasis workup often includes a complete blood count and routine coagulation studies including APTT, PT, and fibrinogen. [clinlabnavigator.com]

Clinical Testing and Workup Individuals may undergo standard blood screening tests including a complete blood count (CBC), which may be normal or may show microcytic anemia or low platelet count, especially in individuals with VWD type 2B. [rarediseases.org]

Causes, etiology and diagnosis of acquired von Willebrand disease: a prospective diagnostic workup to establish the most effective therapeutic strategies. Acta Haematol 2009; 121 : 177–182. 84. Nichols WL, Rick ME, Ortel TL, et al. [nature.com]

• Urea Increased

  In general, the addition of urea increased susceptibility to the enzyme. [ncbi.nlm.nih.gov]

Such transient complete responses to desmopressin (DDAVP) lasting only a few hours may facilitate treatment and prophylaxis of minor bleedings, but may not be able to prevent bleeding during minor and major surgery. [ncbi.nlm.nih.gov]

The incidence rate of spontaneous bleeding requiring treatment was 107/100 patient-years (95% CI, 88.3-131) in VWD2A compared with 40/100 patient-years (95% CI, 30-53) in VWD2M (P AB - Background: Type 2A and 2M von Willebrand disease (VWD2A and VWD2M [moh-it.pure.elsevier.com]

While diagnostic and treatment criteria remain to be rigorously defined, pathophysiologic knowledge will help guide clinical recognition and management. [jamanetwork.com]

Management and treatment Medication (such as tranexamic acid for ENT bleeding anomalies and estrogen-progesterone therapy for menorrhagia) provides an effective treatment and may be prescribed alone or as an adjuvant therapy. [orpha.net]

If people do need treatment at times, there are several treatments available. Which treatments will be used on particular occasions will depend on the person’s medical needs, what works best for them and the situation. [haemophilia.org.au]

Prognosis For patients managed within specialized hemostasis and thrombosis hospital centers, the prognosis is favorable, even for those with the most severe forms of the disease. [orpha.net]

Prognosis and outcome With a high degree of suspicion for a diagnosis of VWD, timelytesting, and appropriate planning by a multidisciplinaryteam, the prognosis and outcome for VWD during pregnancy are favorable. 6. [clinicaladvisor.com]

Prognosis The prognosis for VWD is generally good, and most individuals have a normal lifespan. The prognosis can depend, however, on accurate diagnosis and appropriate medical treatment. Prevention There is no known way to prevent VWD. [healthofchildren.com]

Prognosis The prognosis for VWD disease is generally fairly good and most individuals have a normal lifespan. The prognosis can depend, however on accurate diagnosis and appropriate medical treatment. [encyclopedia.com]

Etiology Type 2A VWD is caused by mutations in the VWF gene and four mechanistic variants (IIA, IIC, IID, IIE) have been identified, although the clinical significance of this heterogeneity remains unclear. [orpha.net]

Others suggest that an acquired von Willebrand syndrome (type 2A) associated with aortic valve stenosis is the etiology of the patients' bleeding 3. Aortic valve replacement may decrease the risk of hemorrhage 4. [radiopaedia.org]

Unlike this exceedingly rare syndrome, acquired type 2A von Willebrand syndrome is a relatively common and typically unrecognized life-threatening condition with a similar etiology. 2 Acquired type 2A von Willebrand syndrome also arises from blood flow [jamanetwork.com]

[…] factor VIII has shorter half life and its plasma levels are lower Note: type O patients have lower levels of vWF (75 IU/dl), type AB patients have highest levels (123 IU/dl) ( Blood 1987;69:1691 ); levels increase with age and with acute phase reactions Etiology [pathologyoutlines.com]

Epidemiology Prevalence is as high as 1-2% in the general population on unselected screening. Worldwide incidence is around 125 per million with between 0.5 and 5 per million being severely affected. Most patients have mild disease. [patient.info]

Summary Epidemiology The type 2 disease accounts for between 20 and 45% of cases of VWD. Clinical description Age of onset of the bleeding anomalies varies, with earlier onset being associated with more severe VWF deficiency. [orpha.net]

Molecular epidemiology per type of VWD VWD type 1 was diagnosed in 159 patients. In total, 216 variants were identified in 146 patients (91.8%; Online Supplementary Table S3 ). [haematologica.org]

Epidemiology The prevalence of vWD is about 1 in 100 individuals.[4] However the majority of these people do not have symptoms. [sites.google.com]

Oxford, UK: Blackwell Publishing; von Willebrand disease: epidemiology.2005; pp. 265-71. [panafrican-med-journal.com]

Von Willebrand Disease Diagnosis Von Willebrand Disease Pathophysiology Von Willebrand Disease Symptoms [news-medical.net]

[…] low FVIII activity and no prior family history of hemophilia A Evaluation of patients with Type 1 or Types 2A, 2B, or 2M VWD with FVIII activity discordantly-lower than the von Willebrand factor antigen level Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

While diagnostic and treatment criteria remain to be rigorously defined, pathophysiologic knowledge will help guide clinical recognition and management. [jamanetwork.com]

C 1, 3, 4, 7, 16 Pathophysiology Synthesis of VWF occurs in the vascular endothelium and megakaryocytes. [aafp.org]

Pathophysiology Von Willebrand's disease (vWD) results from the deficiency or abnormal function of von Willebrand factor (vWF). vWF is a multimeric glycoprotein encoded for by gene map locus 12p13.31. [ 1 ] It is made in the endothelium and stored in [patient.info]

Such transient complete responses to desmopressin (DDAVP) lasting only a few hours may facilitate treatment and prophylaxis of minor bleedings, but may not be able to prevent bleeding during minor and major surgery. [ncbi.nlm.nih.gov]

A: Von Willebrand disease (VWD) and hemophilia are both bleeding disorders that prevent the blood from clotting. [bleedingdisorders.com]

Medicine to help prevent bleeding during labour will be offered if your level is low. You'll probably be advised to give birth in a specialist hospital in case there are any problems. [nhs.uk]

Preventing bleeding episodes Some medicines affect blood clotting. Speak to a doctor before taking some OTC medications. [medicalnewstoday.com]

CARBIDOPA helps prevent the breakdown of levodopa before it can reach the brain and take effect. ENTACAPONE increases levels of levodopa in the body. [hinosesubs.ga]