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Polycythemia Type Chuvash

Chuvash Polycythemia


Presentation

  • Patient CP-03 first presented with erythrocytosis at 5 years of age. Her symptoms included fatigue, plethora, and aquagenic pruritus, but she had no thrombotic complications.[nejm.org]
  • The rationales for these trials are discussed and resulting data from the completed trials are presented. Chapter 55: Cytokines Research on cytokines is another area that is exploding in magnitude.[books.google.com]
  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.de]
  • Increased levels of HIFs lead to an upregulation of the body’s hypoxic response, even though there is no hypoxia present. H&O How is Chuvash polycythemia currently managed? VG The optimal management of the condition is not known.[hematologyandoncology.net]
  • A second sibling (B3) presented with an Hb level of 167 g/L and PCV of 0.67 with no history of stroke and so had no cerebrovascular investigation. Both B2 and B3 were iron deficient.[bloodjournal.org]
Aspiration
  • Chapter 78: Lung Cancer Advances in diagnostic techniques are described such as ultrasound-guided fine needle aspiration or electromagnetic navigation diagnostic bronchoscopy. Video assisted thoracoscopic surgery (VATS) discussion is updated.[books.google.com]
  • -Bone Marrow aspiration/biopsy. 2 Treatment: Treatment of secondary polycythemia is twofold. Primarily the underlying cause should be removed if possible (excision of tumor, stopping steroids, removing CO exposure, etc.).[emdocs.net]
  • Bone marrow aspiration shows panmyelosis.[medical-dictionary.thefreedictionary.com]
  • Bone marrow scrutinies ( bone marrow aspiration or biopsy ) are sometimes necessary to look at blood cell production in the bone marrow ( 5 ) . Checking EPO degrees are non necessary but these can sometimes supply helpful information.[thepoetrytrust.org]
Plethora
  • Her symptoms included fatigue, plethora, and aquagenic pruritus, but she had no thrombotic complications.[nejm.org]
  • Signs of polycythemia include the following: * Rubor, especially facial rubor * Skin plethora * Hypertension, both systolic and diastolic * Hepatomegaly * Splenomegaly * Conjunctival plethora (engorged vessels in the bulbar conjunctiva) * Ecchymosis *[findmeacure.com]
  • Facial, conjunctival and mucous membrane plethora, and palmar erythema are other nonspecific consequences of erythrocytosis. Spider angiomata suggest that the erythrocytosis is due to the hepatopulmonary syndrome.[oncologynurseadvisor.com]
  • These included “feeding problems” (21.8%), plethora (20.0%), lethargy (14.5%), cyanosis (14.5%), respiratory distress (9.1%), jitteriness (7.3%), and hypotonia (7.3%). Other findings included hypoglycemia (40.0%) and hyperbilirubinemia (21.8%).[medtextfree.wordpress.com]
Crying
  • Maaike has been crying a lot when she was a baby. When she was 3 months old her weight started drop back. She didn’t gain enough for her age. When she was 6 months old we went to a pediatrician for the first time.[inspire.com]
Cerebral Palsy
  • Breanna is a patient in our cerebral palsy clinic and was also diagnosed with Chuvash polycythemia at the age of 11. This rare congenital disorder is characterized by an elevated production of red blood cells.[blog.cincinnatichildrens.org]
Hypotension
  • Vitals signs are monitored during and after phlebotomy, and the patient is provided with oral fluids and protected from orthostatic hypotension.[medical-dictionary.thefreedictionary.com]
  • The flow of blood to lung is on the whole really big, and it takes drawn-out hypotension to bring forth important harm. However, acute respiratory distress syndrome can develop when there is a lingering circulatory prostration ( 1,2,15 ) .[thepoetrytrust.org]
Cesarean Section
  • Three days later, fetal heart monitoring showed an abnormal pattern requiring an emergency cesarean section. Early institution of heparin is beneficial in the management of Chuvash-type polycythemia in pregnancy as the condition is thrombogenic.[ncbi.nlm.nih.gov]
  • Three days later, fetal heart monitoring showed an abnormal pattern requiring an emergency cesarean section.[reproductivemedicine.com]
Excitement
  • This is exciting because there are JAK2 inhibitors in late stage clinical trials that look promising for patients with JAK2 mutant polycythemia.[news-medical.net]
  • This working group has been inspired by the exciting findings of rare molecular causes for erythrocytosis and delivers information on which patients should be investigated and where testing can be done.[impact.ref.ac.uk]
Peripheral Neuropathy
  • A Bengali-speaking family from Bangladesh ( Figure 1A ) was investigated following the identification of the propositus (A1) who presented at the age of 21 years with peripheral neuropathy. A computed tomographic (CT) scan of his head was normal.[bloodjournal.org]
  • XL019 was terminated after all patients developed central and/or peripheral neuropathy in clinical phase 1 [ 50 ].[link.springer.com]

Workup

  • Renal angiomyolipoma can be found incidentally during workup for suspected renal disease and is one of the few lesions which can be specifically diagnosed by radiological findings.[jmedicalcasereports.biomedcentral.com]
Hemoglobin Increased
  • increase of 4% for each 1000-m increase in altitude), congenital methemoglobinemia, and other high–oxygen affinity hemoglobinopathies stimulating increased Epo production.[findmeacure.com]

Treatment

  • Ruxolitinib treatment was initiated at a dose of 10 mg twice daily, which was adjusted to 20 mg twice daily.[nejm.org]
  • The main goal of treatment is to prevent thrombosis and minimize the complications of therapy. A 20-year-old, Asian woman with her first pregnancy was admitted to the hospital at 16 weeks' gestation.[ncbi.nlm.nih.gov]
  • There are simply not enough patients to make the development of a targeted treatment worthwhile for pharmaceutical companies," he added. The study results were published earlier this week in the journal Nature Medicine.[news-medical.net]
  • The book is a testament to the editorial panel's creed that innovative, comprehensive, multidisciplinary treatment of cancer patients must be grounded in a fundamental understanding of cancer biology.[books.google.com]
  • We can only hope this treatment will stay sufficient. P.S.: The doctors admitted that for a long time they didn't know what to do and that Maaike's life has been in danger for quite a while.[inspire.com]

Prognosis

  • For example, untreated, polycythemia vera (PV) was initially thought to have a poor prognosis with a life expectancy of one to two years from the time of diagnosis.[rxlist.com]
  • Prognosis and treatment of polycythemia vera (S. Schrier, Ed.). Retrieved April 5, 2017, from Tefferi, A., & Barbui, T. (2017). Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management.[emdocs.net]
  • Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia . 2013 Sep. 27(9):1874-81. [Medline] . [Full Text] . Tefferi A, Vardiman JW.[emedicine.medscape.com]

Etiology

  • In this new 8th edition an outstanding editorial team from world-renowned medical centers continues to hone the leading edge forged in previous editions, with timely information on biology, immunology, etiology, epidemiology, prevention, screening, pathology[books.google.com]
  • There are two distinct forms of the disease: Primary polycythemia (polycythemia vera) is a myeloproliferative disorder of unknown etiology.[medical-dictionary.thefreedictionary.com]
  • […] phases in this disease i) Initial polycythemic phase – Increase in red cell mass ii) Post polycythemic / spent phase- All cytopenias with extramedullary erythropoiesis Epidemiology - Incidence – 8-12 cases / 1 million population - Mean age – 60 years Etiology[sites.google.com]
  • It was suggested that Chuvash polycythemia represents a secondary form of familial and congenital erythrocytosis of as yet unknown etiology.[sjmms.net]
  • […] dysfunction, the decrease in cerebral blood flow seen in newborns with polycythemia is a physiologic response and does not appear to cause cerebral ischemia. [6] Epidemiology The incidence, morbidity, and mortality of polycythemia depends on the underlying etiology[emedicine.medscape.com]

Epidemiology

  • In this new 8th edition an outstanding editorial team from world-renowned medical centers continues to hone the leading edge forged in previous editions, with timely information on biology, immunology, etiology, epidemiology, prevention, screening, pathology[books.google.com]
  • The epidemiology specifically of polycythemia vera has been studied extensively and is reviewed below.[emedicine.medscape.com]
  • There are two phases in this disease i) Initial polycythemic phase – Increase in red cell mass ii) Post polycythemic / spent phase- All cytopenias with extramedullary erythropoiesis Epidemiology - Incidence – 8-12 cases / 1 million population - Mean age[sites.google.com]
  • An association between increased blood viscosity and both arterial and venous thrombosis has been reported in various epidemiologic studies in general populations and in patients with nonclonal erythrocytosis, such as polycythemia of high altitude, erythropoietin[nejm.org]
  • Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma. 2014;55(3):595–600. PubMed CrossRef Google Scholar 9. Gangat N, Caramazza D, Vaidya R, George G, Begna K, Schwager S, et al.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • In keeping with the existence of cross-regulatory interactions between Fe homeostasis and the pathophysiology of these diseases, further investigations on the mechanisms that provide cellular and systemic adaptation to tissue Fe overload are instrumental[books.google.de]
  • Pathophysiologic ClassificationRELATIVE Reduced plasma volume (hemoconcentration)ABSOLUTEPrimary (Erythropoietin normal or low) Polycythemia vera Inherited erythropoietin receptor mutationsSecondary (High erythropoietin) Compensatory Lung disease High-altitude[slideshare.net]
  • It also has activity against cells expressing JAK2(V617F), a mutated form of the janus kinase 2 (JAK2) enzyme that is implicated in the pathophysiology of many myeloproliferative diseases, including polycythaemia vera.[diki.pl]
  • The molecular pathophysiology underlying the Chuvash polycythaemia has recently been elucidated and is ascribed to dysregulation of oxygen homeostasis caused by mutations in the von Hippel-Lindau ( VHL ) gene, a key player in the hypoxia-sensing pathway[onlinelibrary.wiley.com]
  • Until recently, the pathophysiology of polycythemia vera was unclear.[findmeacure.com]

Prevention

  • The main goal of treatment is to prevent thrombosis and minimize the complications of therapy. A 20-year-old, Asian woman with her first pregnancy was admitted to the hospital at 16 weeks' gestation.[ncbi.nlm.nih.gov]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.de]
  • The main goal of treatment is to prevent thrombosis and minimize the complications of therapy. CASE: A 20-year-old, Asian woman with her first pregnancy was admitted to the hospital at 16 weeks' gestation.[reproductivemedicine.com]
  • In this new 8th edition an outstanding editorial team from world-renowned medical centers continues to hone the leading edge forged in previous editions, with timely information on biology, immunology, etiology, epidemiology, prevention, screening, pathology[books.google.com]
  • Further research into this area might shed light into the associated coagulation pathways and present new targets to prevent thromboses in at-risk patients or to develop new anticoagulants based on the pathways that are observed.[hematologyandoncology.net]

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