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Jonerik C Holty - One of the best experts on this subject based on the ideXlab platform.

  • does untreated obstructive sleep apnea cause secondary Erythrocytosis
    Respiratory Medicine, 2017
    Co-Authors: Christopher Nguyen, Jonerik C Holty
    Abstract:

    Abstract Background The current literature suggests a relationship between obstructive sleep apnea (OSA) severity and hematocrit. However, the degree that OSA contributes to clinically significant Erythrocytosis is uncertain. The aim of this study is to evaluate this association in a large study sample controlling for multiple confounders. Methods We evaluated consecutive subjects with suspected untreated OSA using multivariate analysis to test the associations between apnea-hypopnea index (AHI) and hematocrit. Subjects were evaluated with sleep studies, comprehensive sleep questionnaires, and detailed electronic medical record reviews to document their medical comorbidities, and demographic and laboratory information. Results 1604 consecutive veterans (age 57.6 ± 13.4 years, 92% male) were included in the analysis with 77.4% diagnosed with OSA. However, few included subjects (1.6%) had clinical Erythrocytosis. OSA severity defined by AHI was not associated with hematocrit or clinically significant Erythrocytosis. Rather, awake oxygen saturation (-0.17 points, p  Conclusions Hematocrit levels and presence of Erythrocytosis appear not associated with OSA severity, but rather with hypoxemia as measured by awake and to a lesser extent mean nocturnal oxygen saturation. Nocturnal oximetry may provide diagnostic utility in the evaluation of unexplained secondary polycythemia and polysomongraphy may be warranted in those with unexplained nocturnal hypoxemia and Erythrocytosis.

M Inoue - One of the best experts on this subject based on the ideXlab platform.

  • Large uterine myoma with erythropoietin messenger RNA and Erythrocytosis.
    Obstetrics and gynecology, 2000
    Co-Authors: T Kohama, K Shinohara, M Takahura, M Inoue
    Abstract:

    Myomatous Erythrocytosis syndrome (Erythrocytosis associated with a uterine myoma) has multiple proposed etiologies, one of which is altered erythropoietin production. A 28-year-old woman, gravida 0, para 0, presented with a solitary, degenerated uterine myoma that was 34-36 weeks' gestational size and Erythrocytosis. After GnRH agonist treatment and myomectomy, the tumor was analyzed by reverse transcription-polymerase chain reaction. Specific erythropoietin primer with erythropoietin messenger RNA was noted. Erythropoietin production by myomata might cause Erythrocytosis in myomatous Erythrocytosis syndrome.

  • Large uterine myoma with erythropoietin messenger RNA and Erythrocytosis.
    Obstetrics & Gynecology, 2000
    Co-Authors: T Kohama, K Shinohara, M Takahura, M Inoue
    Abstract:

    Abstract Background: Myomatous Erythrocytosis syndrome (Erythrocytosis associated with a uterine myoma) has multiple proposed etiologies, one of which is altered erythropoietin production. Case: A 28-year-old woman, gravida 0, para 0, presented with a solitary, degenerated uterine myoma that was 34–36 weeks’ gestational size and Erythrocytosis. After GnRH agonist treatment and myomectomy, the tumor was analyzed by reverse transcription–polymerase chain reaction. Specific erythropoietin primer with erythropoietin messenger RNA was noted. Conclusion: Erythropoietin production by myomata might cause Erythrocytosis in myomatous Erythrocytosis syndrome.

Mary Frances Mcmullin - One of the best experts on this subject based on the ideXlab platform.

  • a guideline for the management of specific situations in polycythaemia vera and secondary Erythrocytosis a british society for haematology guideline
    British Journal of Haematology, 2019
    Co-Authors: Mary Frances Mcmullin, Adam J Mead, Sahra Ali, Catherine Cargo, Frederick Chen, Joanne Ewing, Mamta Garg, Anna L Godfrey, Steven Knapper, Donal P Mclornan
    Abstract:

    The previous BSH guideline for the management of Erythrocytosis was published in 2005 (McMullin et al, 2005) and amended in 2007 (McMullin et al, 2007). Here, we re‐evaluate the literature formulate guidance on the management of specific situations encountered in polycythaemia vera (PV) and the management of the other types of secondary Erythrocytosis. Recommendations for the diagnostic pathway of investigation of an Erythrocytosis, risk stratification and management of PV are in the accompanying guideline (McMullin et al, 2018). We review evidence and outline guidance on management of acute thrombotic events and secondary prevention of thrombosis in PV. The unusual thrombotic events, splanchnic vein and cerebral vein thromboses are discussed and haemorrhage. The specific situations of surgery and pregnancy and guidance on management of pruritus are included. The evidence for the management of other causes of Erythrocytosis, including idiopathic Erythrocytosis, congenital Erythrocytosis, hypoxic pulmonary disease and post‐transplant Erythrocytosis, is reviewed and recommendations made.

  • gene panel sequencing improves the diagnostic work up of patients with idiopathic Erythrocytosis and identifies new mutations
    Haematologica, 2016
    Co-Authors: Carme Camps, Mary Frances Mcmullin, Holger Cario, Richard Van Wijk, Celeste Bento, Nayia Petousi, Richard R Copley, Peter J Ratcliffe, Peter A Robbins, Jenny C Taylor
    Abstract:

    Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for Erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen transport. However, despite clinical investigation and screening for these mutations, the cause of disease cannot be found in a considerable number of patients, who are classified as having idiopathic Erythrocytosis. In this study, we developed a targeted next-generation sequencing panel encompassing the exonic regions of 21 genes from relevant pathways (~79 Kb) and sequenced 125 patients with idiopathic Erythrocytosis. The panel effectively screened 97% of coding regions of these genes, with an average coverage of 450×. It identified 51 different rare variants, all leading to alterations of protein sequence, with 57 out of 125 cases (45.6%) having at least one of these variants. Ten of these were known Erythrocytosis-causing variants, which had been missed following existing diagnostic algorithms. Twenty-two were novel variants in Erythrocytosis-associated genes (EGLN1, EPAS1, VHL, BPGM, JAK2, SH2B3) and in novel genes included in the panel (e.g. EPO, EGLN2, HIF3A, OS9), some with a high likelihood of functionality, for which future segregation, functional and replication studies will be useful to provide further evidence for causality. The rest were classified as polymorphisms. Overall, these results demonstrate the benefits of using a gene panel rather than existing methods in which focused genetic screening is performed depending on biochemical measurements: the gene panel improves diagnostic accuracy and provides the opportunity for discovery of novel variants.

  • Congenital Erythrocytosis.
    International journal of laboratory hematology, 2016
    Co-Authors: Mary Frances Mcmullin
    Abstract:

    Congenital Erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The Erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an Erythrocytosis. Primary causes include erythropoietin receptor mutations. Congenital secondary causes include mutations in the genes involved in the oxygen-sensing pathway and haemoglobins with abnormal oxygen affinity. Investigations for the cause include an erythropoietin level, oxygen dissociation curve, haemoglobin electrophoresis and sequencing for known gene variants. The finding of a known or new molecular variant confirms a diagnosis of congenital Erythrocytosis. A congenital Erythrocytosis may be an incidental finding but nonspecific symptoms are described. Major thromboembolic events have been noted in some cases. Low-dose aspirin and venesection are therapeutic manoeuvres which should be considered in managing these patients. Rare individuals presenting often at a young age may have a congenital Erythrocytosis. Molecular investigation may reveal a lesion. However, in the majority, currently no defect is identified. © 2016 John Wiley & Sons Ltd.

  • The diagnosis and management of Erythrocytosis
    BMJ (Clinical research ed.), 2013
    Co-Authors: Clodagh Keohane, Mary Frances Mcmullin, Claire N Harrison
    Abstract:

    #### Summary points Erythrocytosis is an increase in the number of red blood cells. In a recent study from the United States, the prevalence of primary Erythrocytosis (known as polycythaemia vera) was 44-57 per 100 000.1 The prevalence of secondary Erythrocytosis is considerably higher but is difficult to quantify owing to the diversity of causes and paucity of data. This review aims to provide an update on the diagnostic pathway for patients presenting with Erythrocytosis, as well as up to date appraised data on the management of such patients. #### Sources and selection criteria We searched PubMed to identify peer reviewed original articles, meta-analyses, and reviews. We considered only those papers that were written in English, published from 1966 until the present day, which described studies that had adequate scientific validity. The authors’ own collections and older references generated from initial papers were also examined. Randomised trials and series of patients and single case reports were considered if appropriate. Erythrocytosis is suspected when haemoglobin is above 185 g/L or the packed cell volume is greater than 0.52 in a man or 165 g/L and 0.48, respectively, in a woman. The packed cell volume is a measure of the volume percentage of red blood cells in whole blood. In …

  • Diagnosis and management of congenital and idiopathic Erythrocytosis.
    Therapeutic advances in hematology, 2012
    Co-Authors: Mary Frances Mcmullin
    Abstract:

    An Erythrocytosis occurs when there is an increased red-cell mass. The causes of Erythrocytosis are divided into primary, when there is an intrinsic defect in the erythroid cell, and secondary, when the cause is extrinsic to the erythroid cell. An idiopathic Erythrocytosis occurs when the increased red-cell mass has no identifiable cause. Primary and secondary defects can be further classified as either congenital or acquired causes. The diagnostic pathway starts with a careful history and examination followed by measurement of the erythropoietin (EPO) levels. This allows a division of those patients with a low EPO level, who can then be investigated for primary causes of Erythrocytosis, and those with a normal or high EPO level, where the oxygen-sensing pathway needs to be explored further. Physiological studies in those with congenital defects in the oxygen-sensing pathway show many changes in the downstream metabolism adapting to the defect, which has a bearing on the management of the disorders. Low-dose aspirin and venesection to an achievable target are the main therapeutic options that can be considered in the management of Erythrocytosis. Specific guidance on venesection options should be considered with certain causes such as high oxygen-affinity hemoglobins.

Gordon Wright - One of the best experts on this subject based on the ideXlab platform.

  • Myomatous Erythrocytosis syndrome
    Pathology, 2012
    Co-Authors: Tanya Robb, Gordon Wright
    Abstract:

    The condition of women with uterine leiomyomas and concurrent Erythrocytosis, with restoration and maintenance of normal hae-matological values after hysterectomy, has been classified as ‘myomatous Erythrocytosis syndrome’. The first case was described in 1953 by Thomson and Marson, 1 and according to LevGur and Levie, 2 fewer than 40 cases have been reported in the literature since. The exact pathophysiology of myomatous Erythrocytosis syndrome is uncertain. Substantial myoma size has been noted as a common denominator in this condition, and recent evidence has confirmed Epo production by the myoma cells themselves. 3 We present a case which likely documents another example of myomatous Erythrocytosis syndrome, occurring in a patient with a large uterine leiomyoma.

M. Levie - One of the best experts on this subject based on the ideXlab platform.

  • The myomatous Erythrocytosis syndrome: A review
    Obstetrics and gynecology, 1995
    Co-Authors: Michael Lev-gur, M. Levie
    Abstract:

    Objective To review the literature regarding the association of Erythrocytosis and uterine myomas, because of the lack of anemia in many women with menorrhagia and fibroids. Data Sources We searched the MEDLINE Englishlanguage data base and reference lists to find articles referring to the myomatous Erythrocytosis syndrome. Methods of Study Selection All case reports of the myomatous Erythrocytosis syndrome were included in this review. Data Extraction and Synthesis Symptoms, laboratory studies, histopathologic findings, and possible etiologies for each of 31 cases were extracted. The symptoms described were most commonly related to the presence of a myomatous uterus with occasional manifestations of Erythrocytosis. A routine complete blood count was used to diagnose Erythrocytosis in all cases. Evaluation of the bone marrow, blood volume, erythrocyte life span, and erythropoietin activity have all been used to help confirm the diagnosis. The histopathologic findings were similar to those commonly seen in myomas. Possible factors in the etiology of this syndrome include: vascular shunts within the myoma, large uterine size, myoma site, change in red cell life span, alteration in erythropoietin production by the kidney, and autonomous secretion of erythropoietin or an erythropoietin-like substrate by the myomatous uterus. Conclusion Elevated levels of erythropoietin accompany the myomatous Erythrocytosis syndrome. All myomas may alter erythropoietin production, causing varying degrees of Erythrocytosis, which could explain the lack of anticipated anemia despite the presence of menorrhagia. Use of the currently available, highly sensitive radioimmunoassay for erythropoietin should help in our understanding of the role uterine myomas play in erythropoiesis.