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Quebec Platelet Disorder

QPD


Presentation

  • The focus of the present review is to summarize the current state of knowledge on QPD, including the history of this disorder, its clinical and laboratory features, and recommended approaches for its diagnosis and treatment.[ncbi.nlm.nih.gov]
  • A 33 years old woman presented with history of epistaxis and gum bleeding since childhood and menorrhagia and bleeding per vaginum after puberty, also had history of excessive blood loss after birth of child.[ncbi.nlm.nih.gov]
  • ORPHA:220436 Synonym(s): Factor V Quebec Prevalence: - Inheritance: Autosomal dominant Age of onset: - ICD-10: D69.1 OMIM: 601709 UMLS: C1866423 MeSH: C536260 GARD: 8345 MedDRA: - The documents contained in this web site are presented for information[orpha.net]
  • This mutation was specific to QPD as it was not present in any unaffected family members (n 114), unrelated French Canadians (n 221), or other persons tested (n 90).[ncbi.nlm.nih.gov]
Short Stature
  • Autosomal recessive nonsyndromic sensorineural deafness type DFNB Congenital plasminogen activator inhibitor type 1 deficiency Donnai-Barrow syndrome Burkitt lymphoma Hypoplasminogenemia Ligneous conjunctivitis Precursor T-cell acute lymphoblastic leukemia Short[csbg.cnb.csic.es]
  • stature Thromboxane receptor Aggregation defect for arachidonic acid TBXA2R n/a[arupconsult.com]
Pathologist
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
Suggestibility
  • These data suggest the generation of increased but limiting amounts of plasmin within platelets is involved in producing the unique phenotypic changes to alpha-granule proteins in QPD platelets.[ncbi.nlm.nih.gov]
  • These findings suggest accelerated fibrinolysis is an important contributor to QPD bleeding.[ncbi.nlm.nih.gov]
  • Visual inspection of the SNP allele signal intensity plots near PLAU in QPD (example shown in supplemental Figure 1) suggested that there were copy number abnormalities (summarized in supplemental Table 1).[doi.org]
  • We suggest that the low endogenous levels of uPA in blood are actively regulated, and that the regulatory mechanisms are disrupted in QPD in a megakaryocyte-specific manner.[ncbi.nlm.nih.gov]
Stroke
  • […] of Toronto, Toronto, ON, Canada. 6 The Dalla Lana School of Public Health and Institute of Medical Sciences, University of Toronto, ON, Canada. 7 Hematology/ Oncology, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada. 8 Heart & Stroke[ncbi.nlm.nih.gov]
  • Unusual Sites Victor J Marder Hylton V Joffe and Sam Schulman Prevention of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke[books.google.com]
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]
  • Collaborative overview of randomised trials of antiplatelet therapy - I: Prevention of death, myocardial infarction, and stroke by prolonged antiplatelet therapy in various categories of patients. ‏[books.google.com]
  • The research was supported funds from the Canadian Institutes of Health Research (CIHR), the Heart and Stroke Foundation of Ontario and Bayer Canada.[fhs.mcmaster.ca]

Workup

  • […] platelet dysfunction (usually mild) § Often associated with Granulocyte inclusions (Dohle-like bodies) § Phenotype very variable – m ay be associated with other congenital abnormalities including : § Glomerulon ephritis (urinalysis should be part of the workup[ihaematology.com]
  • Diagnostic workup includes antigen phenotyping and/or genotyping of maternal, paternal, and fetal platelet antigens.[basicmedicalkey.com]

Treatment

  • The purpose of this review is to summarize current knowledge on QPD pathogenesis and the recommended approaches to QPD diagnosis and treatment. Thieme Medical Publishers.[ncbi.nlm.nih.gov]
  • The focus of the present review is to summarize the current state of knowledge on QPD, including the history of this disorder, its clinical and laboratory features, and recommended approaches for its diagnosis and treatment.[ncbi.nlm.nih.gov]
  • 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]
  • Their platelet FDPs were not altered by treatment with fibrinolytic inhibitors and were different from the FDPs in DIC and in plasmin-digested fibrinogen. Tests for serum FDPs may provide a simple rapid way to screen for the Quebec platelet disorder.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis - Quebec platelet disorder Not supplied. Treatment - Quebec platelet disorder Not supplied. Resources - Quebec platelet disorder Not supplied.[checkorphan.org]
  • Back to top Prognosis People with a myelodysplastic syndrome may have questions about their prognosis and survival. Prognosis and survival depend on many factors.[cancer.ca]
  • Prognosis The prognosis is very variable and will depend on the underlying condition.[patient.info]
  • PMID: 21993687 Free PMC Article Prognosis Macêdo MB, Brito Jde M, Macêdo Pda S, Brito JA BMC Res Notes 2015 May 1;8:178. doi: 10.1186/s13104-015-1145-5.[ncbi.nlm.nih.gov]

Etiology

  • Results: Heavy menstrual bleeding affects the quality of life of many adolescents, and PFDs appearing to be an important underlying etiology of this disorder.[omicsonline.org]
  • Etiology BMC Res Notes 2015 May 1;8:178. doi: 10.1186/s13104-015-1145-5. PMID: 25928053 Free PMC Article Palsson R, Vidarsson B, Gudmundsdottir BR, Larsen OH, Ingerslev J, Sorensen B, Onundarson PT Platelets 2014;25(5):357-62.[ncbi.nlm.nih.gov]
  • Paraneoplastic growth factors [30] such as prostaglandin E; other cytokines; neurologic, hormonal, [31] and immune mechanisms [23] ; and vascular thrombi caused by platelets and antiphospholipid antibodies [32] have all been proposed as possible etiologies[emedicine.medscape.com]

Epidemiology

  • Management of Acute Hemorrhage Platelets Plasma and Specialized Coagulation Concentrate New Approaches for the Therapy of Bleeding Disorders Overview of Venous Thromboembolism Thrombophilia Genetics Epidemiology and Risk Factors for Venous Clinical Manifestations[books.google.com]
  • Ichthyosis-hypotrichosis syndrome Synonym(s): - Factor V Quebec Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for MMRN1 Genetic Association Database (GAD) MMRN1 Human Genome Epidemiology (HuGE) Navigator MMRN1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MMRN1 No data available for Genatlas for MMRN1 Gene The cDNA sequence[genecards.org]
  • A standard definition would allow comparisons to the adult and pediatric literature, as well as furthering research on the pathophysiology, epidemiology and effective management of ARDS in the neonatal population Keywords Acute respiratory distress syndrome[omicsonline.org]
  • […] mutations in the SLCO2A1 gene in Chinese patients have also been reported. [47, 48] Genetic analysis of affected individuals and unaffected family members in Korea revealed a novel heterozygous mutation in the SLCO2A1 gene but no HPGD mutations. [49] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Manifestations and Diagnosis of Venous Venous Thrombosis in Unusual Sites Victor J Marder Hylton V Joffe and Sam Schulman Prevention of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology[books.google.com]
  • Pathophysiology The disorder is characterized by large amounts of the fibrinolytic enzyme urokinase -type plasminogen activator (u-PA) in platelets. [5] Consequently, stored platelet plasminogen is converted to plasmin, which is thought to play a role[wikiwand.com]
  • Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-2114. Mannucci PM. Treatment of von Willebrand’s disease.[rarediseases.org]
  • […] thrombocynthemia -iron deficiency anemia -chronic inflammatory disease -splenectomy (no marginating pool) -rebound thrombocytosis onset: A: 2-6 years C: 20-40 years duration A: 2-6 weeks C: months-years platelet count A: 20,000mm3 C: 30,000-80,000mm3 pathophysiology[quizlet.com]
  • Thus, even as our understanding of the genetics and pathophysiology of AHC increases, there is a continued need for comprehensive longitudinal natural history studies of AHC.[journals.plos.org]

Prevention

  • […] of Venous Thromboembolic Disease Treatment of Venous Thromboembolic Disease Overview of Arterial Thrombotic Disorders Pathophysiology of Atherothrombosis Prevention of Thromboembolic Stroke in Patients with Acute Thrombolytic Therapy Unusual Sites of[books.google.com]
  • Prevention - Quebec platelet disorder Not supplied. Diagnosis - Quebec platelet disorder Not supplied. Prognosis - Quebec platelet disorder Not supplied. Treatment - Quebec platelet disorder Not supplied.[checkorphan.org]
  • The Heart Outcomes Prevention Evaluation Study investigators. N Engl J Med 2000;342: 145-153. ‏ الصفحة 468 - Antiplatelet Trialists' Collaboration.[books.google.com]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Protein coding - S4R3G7 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.[ensembl.org]

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