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      Essential thrombocythemia with (type2) calreticulin presented as stuttering priapism case report and review of literature

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          Abstract

          Priapism is a rare presentation and complication of ET that might be underreported. In ET, priapism can present as an ischemic or stuttering type. These patients are more likely to be anemic and have a high platelet count.

          Abstract

          Priapism is a rare presentation and complication of ET that might be underreported. In ET, priapism can present as an ischemic or stuttering type. These patients are more likely to be anemic and have a high platelet count.

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          Most cited references36

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          American Urological Association guideline on the management of priapism.

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            Priapism: pathogenesis, epidemiology, and management.

            Priapism describes a persistent erection arising from dysfunction of mechanisms regulating penile tumescence, rigidity, and flaccidity. A correct diagnosis of priapism is a matter of urgency requiring identification of underlying hemodynamics. To define the types of priapism, address its pathogenesis and epidemiology, and develop an evidence-based guideline for effective management. Six experts from four countries developed a consensus document on priapism; this document was presented for peer review and debate in a public forum and revisions were made based on recommendations of chairpersons to the International Consultation on Sexual Medicine. This report focuses on guidelines written over the past decade and reviews the priapism literature from 2003 to 2009. Although the literature is predominantly case series, recent reports have more detailed methodology including duration of priapism, etiology of priapism, and erectile function outcomes. Consensus recommendations were based on evidence-based literature, best medical practices, and bench research. Basic science supporting current concepts in the pathophysiology of priapism, and clinical research supporting the most effective treatment strategies are summarized in this review. Prompt diagnosis and appropriate management of priapism are necessary to spare patients ineffective interventions and maximize erectile function outcomes. Future research is needed to understand corporal smooth muscle pathology associated with genetic and acquired conditions resulting in ischemic priapism. Better understanding of molecular mechanisms involved in the pathogenesis of stuttering ischemic priapism will offer new avenues for medical intervention. Documenting erectile function outcomes based on duration of ischemic priapism, time to interventions, and types of interventions is needed to establish evidence-based guidance. In contrast, pathogenesis of nonischemic priapism is understood, and largely attributable to trauma. Better documentation of onset of high-flow priapism in relation to time of injury, and response to conservative management vs. angiogroaphic or surgical interventions is needed to establish evidence-based guidance.
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              Clinical and molecular response to interferon-α therapy in essential thrombocythemia patients with CALR mutations.

              Myeloproliferative neoplasms are clonal disorders characterized by the presence of several gene mutations associated with particular hematologic parameters, clinical evolution, and prognosis. Few therapeutic options are available, among which interferon α (IFNα) presents interesting properties like the ability to induce hematologic responses (HRs) and molecular responses (MRs) in patients with JAK2 mutation. We report on the response to IFNα therapy in a cohort of 31 essential thrombocythemia (ET) patients with CALR mutations (mean follow-up of 11.8 years). HR was achieved in all patients. Median CALR mutant allelic burden (%CALR) significantly decreased from 41% at baseline to 26% after treatment, and 2 patients even achieved complete MR. In contrast, %CALR was not significantly modified in ET patients treated with hydroxyurea or aspirin only. Next-generation sequencing identified additional mutations in 6 patients (affecting TET2, ASXL1, IDH2, and TP53 genes). The presence of additional mutations was associated with poorer MR on CALR mutant clones, with only minor or no MRs in this subset of patients. Analysis of the evolution of the different variant allele frequencies showed that the mutated clones had a differential sensitivity to IFNα in a given patient, but no new mutation emerged during treatment. In all, this study shows that IFNα induces high rates of HRs and MRs in CALR-mutated ET, and that the presence of additional nondriver mutations may influence the MR to therapy.
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                Author and article information

                Contributors
                razinho5@gmail.com
                Journal
                Clin Case Rep
                Clin Case Rep
                10.1002/(ISSN)2050-0904
                CCR3
                Clinical Case Reports
                John Wiley and Sons Inc. (Hoboken )
                2050-0904
                18 November 2020
                January 2021
                : 9
                : 1 ( doiID: 10.1002/ccr3.v9.1 )
                : 399-404
                Affiliations
                [ 1 ] Internal Medicine Department Hamad Medical Corporation Doha Qatar
                [ 2 ] Nursing Department Hamad Medical Corporation Doha Qatar
                [ 3 ] Hematology and Oncology Department Hamad Medical Corporation Doha Qatar
                Author notes
                [*] [* ] Correspondence

                Elrazi Ali, Department: Internal Medicine, Hamad Medical Corporation, Al‐Rayyan road, PO Box 3050, 00000 Doha, Qatar.

                Email: razinho5@ 123456gmail.com

                Author information
                https://orcid.org/0000-0002-8967-433X
                https://orcid.org/0000-0003-4845-4119
                https://orcid.org/0000-0002-1144-8076
                Article
                CCR33541
                10.1002/ccr3.3541
                7813073
                33489189
                86ca5e0c-56a5-4d70-a0d7-a8be4d5eabe4
                © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                : 19 July 2020
                : 16 August 2020
                : 08 September 2020
                Page count
                Figures: 2, Tables: 1, Pages: 6, Words: 3514
                Categories
                Case Report
                Case Reports
                Custom metadata
                2.0
                January 2021
                Converter:WILEY_ML3GV2_TO_JATSPMC version:5.9.6 mode:remove_FC converted:18.01.2021

                calreticulin,erectile dysfunction,essential thrombocythemia,male fertility,myeloproliferative neoplasms,priapism

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