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Qualitative Platelet Defect
Thrombocytopathy

Presentation

SpaceNext50 Britannica presents SpaceNext50, From the race to the Moon to space stewardship, we explore a wide range of subjects that feed our curiosity about space! [britannica.com]

Most commonly, symptoms in dyskeratosis congenita do not present until later in life, but severe mutations may present in infancy. [oncohemakey.com]

Accurate physical examination and appropriate laboratory tests are of great value for evaluating a patient presenting with bleeding due to congenital platelet disorders. [cureus.com]

(s): Stormorken syndrome Thrombocytopathy-asplenia-miosis syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: D69.8 OMIM: 185070 UMLS: C1861451 MeSH: - GARD: 5188 MedDRA: - The documents contained in this web site are presented [orpha.net]

In this article, we have a detailed literature review of these rare thrombocytopathies, their presentation and treatment. Find Full Text Links for this Article Trending Papers [read.qxmd.com]

Entire Body System

  • Fatigue

    Homepage Rare diseases Search Search for a rare disease Stormorken-Sjaastad-Langslet syndrome Disease definition Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis [orpha.net]

Cardiovascular

  • Chest Pain

    Platelet hyperagregability in patients with chest pain and angiographically normal coronary arteries. Am J Cardiol 1986;57:657. [ Links ] 103. Mammen EF, Barnhart MI, Selik NR, et al. [scielo.org.mx]

  • Hypertension

    Effects of diltiazem hydrochloride on cardiovascular response, platelet aggregation and coagulation activity during exercise testing in systemic hypertension. Am J Cardiol 1986;57:609. [ Links ] 84. Hines R, Barash PG. [scielo.org.mx]

Skin

  • Dermatitis

    Camppell: Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13, 133 (1954). PubMed CAS Google Scholar Alexander, B., and R. [link.springer.com]

Workup

These evaluations are readily available and can suggest the diagnosis and inform the subsequent workup. [oncohemakey.com]

Treatment

Article / Publication Details First-Page Preview Abstract Increased bleeding risk or impaired platelet function in donors have to be considered under treatment with ASS. [karger.com]

Treatment Glanzmann thrombasthenia patients require symptomatic treatment. All patients should be counseled about the cautious use of NSAIDs and aspirin and to avoid contact sports. [cureus.com]

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]

In this article, we have a detailed literature review of these rare thrombocytopathies, their presentation and treatment. Find Full Text Links for this Article Trending Papers [read.qxmd.com]

[…] avoiding drugs that cause bleeding Treating the underlying associated disease, for example, dialysis for a person with kidney failure Sometimes drugs or platelet transfusion If platelet dysfunction is caused by a drug, stopping the drug usually is the only treatment [msdmanuals.com]

Epidemiology

Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-460. [ Links ] 46. Werner E, Broxson E, Tucker E, et al. Prevalence of von Willebrand's disease in children: a multiethnic study. [scielo.org.mx]

Epidemiologic and outcome studies of patients who received platelet transfusions in the neonatal intensive care unit. J Perinatol 2001;21(7):415–20.Google ScholarPubMed Noris, P, Pecci, A. Hereditary thrombocytopenias: A growing list of disorders. [cambridge.org]

Pathophysiology

Although recently and remarkable advances in our understanding of platelet mechanisms and their role in the hemostatic process, in the majority of cases a defined pathophysiological molecular basis still remains now to be determined. [bloodtransfusion.it]

Clinical manifestations and pathophysiological mechanisms of the Wiskott–Aldrich syndrome. J Clin Immunol 2018;38(1):13–27.CrossRefGoogle ScholarPubMed Bastida, JM, Del Rey, M, Revilla, N, et al. [cambridge.org]

Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol. 2011; 18: 42-48. -MINELLI A, et al. [revistaseletronicas.fmu.br]

En: Platelets: Pathophysiology and antiplatelet drug therapy. New York: Alan R. Liss, 1982:45. [ Links ] 77. Triplett DA. Appendix C: Miscellaneous lists and forms. En: Triplett DA, Ed. [scielo.org.mx]

Prevention

Aspirin and NSAIDs prevent cyclooxygenase-mediated production of thromboxane A2. This effect can last 5 to 7 days. [merckmanuals.com]

Due to the associated immunodeficiency, transfused blood products including platelets should be irradiated to prevent transfusion-associated graft vs. host disease. [oncohemakey.com]

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