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European Neurology 1984An analysis is presented of 35 cases of chorea as a symptom of polycythaemia. This analysis reveals: (a) whereas polycythaemia occurs predominantly in males (3:2),... (Review)
Review
An analysis is presented of 35 cases of chorea as a symptom of polycythaemia. This analysis reveals: (a) whereas polycythaemia occurs predominantly in males (3:2), polycythaemic chorea (PC) occurs predominantly in females (5:2), at a real ratio of female:male = 4:1, the prevalence being 1-2.5% of polycythaemic patients; (b) PC manifests predominantly after the age of 50 (8 cases before, 27 after 50 years), making polycythaemia the first disorder to be considered in cases of so-called 'senile' chorea; (c) PC is generalised, with predominant involvement of faciolingual and brachial muscles, and associated with muscular hypotonia; (d) PC may last from periods of weeks to years, usually responds to haloperidol, venesection or 32P-treatment, but may persist, or recur with treatment, or remit spontaneously, and (e) no relationship exists between the choreatic syndrome and (the rare finding of) a small infarct in the caudate nucleus. The cause of the choreatic syndrome in polycythaemia is presumably to be explained as a neostriatal hyperviscosity syndrome producing venous stasis, reduced brain blood flow and impaired tissular O2/glucose metabolism. The state of dopaminergic hyperactivity is presumably enhanced by relatively increased neostriatal catecholestrogens. The hypothesis of polycythaemic excess of dopamine-laden platelets releasing excess of dopamine in the neostriatum needs to be confirmed by laboratory evidence of platelet counts.
Topics: Adult; Aged; Cerebrovascular Disorders; Child; Chorea; Female; Humans; Male; Middle Aged; Polycythemia; Sex Factors
PubMed: 6370700
DOI: 10.1159/000115674 -
BMJ Case Reports Oct 2020A 61-year-old man presented to the department of clinical haematology in February 2016 with symptomatic anaemia, generalised lymphadenopathy and hepatomegaly. Routine...
A 61-year-old man presented to the department of clinical haematology in February 2016 with symptomatic anaemia, generalised lymphadenopathy and hepatomegaly. Routine investigations showed severe anaemia with the presence of lymphoplasmacytoid cells in the peripheral smear, and bone marrow examination with IHC and serum protein electrophoresis confirmed diagnosis of lymphoplasmacytic lymphoma. The patient received supportive transfusion therapy and combination chemotherapy. After VI cycles, the patient had a complete haematological response with marrow in remission. Maintenance rituximab was planned every 3 months for 2 years. At the time of first dose of maintenance rituximab, his haemoglobin (Hb) was 189 g/L with low normal erythropoietin level. During the last 3 years follow-up, his Hb ranged between 16.5 and 20.1 g/dL. All causes of secondary polycythaemia were ruled out. Workup for polycythAemia vera (PV), including JAK-2 and bone marrow, was not suggestive of PV. We labelled it as a case of polycythaemia due to undetermined aetiology.
Topics: Antineoplastic Agents; Blood Transfusion; Combined Modality Therapy; Humans; Male; Middle Aged; Polycythemia; Waldenstrom Macroglobulinemia
PubMed: 33127727
DOI: 10.1136/bcr-2020-235687 -
Hematology/oncology Clinics of North... Oct 2003In this article, polycythemic disorders are classified based on the current understanding of biology of erythropoieses and divided into primary and secondary... (Review)
Review
In this article, polycythemic disorders are classified based on the current understanding of biology of erythropoieses and divided into primary and secondary polycythemias. Special emphasis is given to recently uncovered molecular bases of newly described congenital polycythemic disorders. This clarification of the pathophysiology of some of the congenital polycythemic states has obvious utility for more accurate diagnosis and rational prognostic determination. The molecular basis of congenital thrombocytoses is only beginning to be uncovered. In contrast, the molecular bases of polycythemia vera and essential thrombocythemia remain unknown, thus their diagnostic criteria are imprecise and their treatment remains largely empirical. The central premise of this article is that deciphering the molecular basis of human diseases leads to improved understanding of hematopoiesis, precise diagnosis, and the potential for development of a specific therapy.
Topics: Humans; Kidney Diseases; Liver Diseases; Mutation; Polycythemia; Thrombocytosis
PubMed: 14560779
DOI: 10.1016/s0889-8588(03)00090-x -
Pediatric Blood & Cancer Nov 2013During recent years, the increasing knowledge of genetic and physiological changes in polycythemia vera (PV) and of different types of congenital erythrocytosis has led... (Review)
Review
During recent years, the increasing knowledge of genetic and physiological changes in polycythemia vera (PV) and of different types of congenital erythrocytosis has led to fundamental changes in recommendations for the diagnostic approach to patients with erythrocytosis. Although widely accepted for adult patients this approach may not be appropriate with regard to children and adolescents affected by erythrocytosis. The "congenital erythrocytosis" working group established within the framework of the MPN&MPNr-EuroNet (COST action BM0902) addressed this question in a consensus finding process and developed a specific algorithm for the diagnosis of erythrocytosis in childhood and adolescence which is presented here.
Topics: Adolescent; Adult; Algorithms; Child; Humans; Polycythemia
PubMed: 23776154
DOI: 10.1002/pbc.24625 -
La Presse Medicale Sep 1958
Topics: Humans; Polycythemia; Polycythemia Vera
PubMed: 13591265
DOI: No ID Found -
Recenti Progressi in Medicina Nov 1970
Topics: Humans; Polycythemia; Prognosis
PubMed: 5537628
DOI: No ID Found -
Nihon Rinsho. Japanese Journal of... Mar 1970
Topics: Humans; Phosphorus Isotopes; Polycythemia
PubMed: 5430965
DOI: No ID Found -
Deutsche Medizinische Wochenschrift... Sep 1984A 43-year-old woman with a solitary renal cyst developed polycythaemia. 21 well documented cases of this type have been previously published. In the majority of them a...
A 43-year-old woman with a solitary renal cyst developed polycythaemia. 21 well documented cases of this type have been previously published. In the majority of them a causal connection could be assumed between the renal cyst and polycythaemia: in 13 of the 15 cases (as in the reported one), the polycythaemia disappeared after surgical removal of the cyst. Measurement of serum erythropoietin can help in the differential diagnosis, but exclusion of polycythaemia vera may be difficult in the individual case.
Topics: Adult; Blood Cell Count; Erythropoietin; Female; Hemoglobins; Humans; Kidney Diseases, Cystic; Polycythemia
PubMed: 6468301
DOI: 10.1055/s-2008-1069379 -
Journal of Molecular Medicine (Berlin,... Apr 2013Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia),...
Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia), and PHD2 mutations, which in one family was also associated with recurrent pheochromocytoma/paraganglioma (PHEO/PGL). Over the past two decades, we have studied seven unrelated patients with sporadic congenital polycythemia who subsequently developed PHEO/PGL with, until now, no discernible molecular basis. We now report a polycythemic patient with a novel germline HIF2A (F374Y) (exon 9) mutation, inherited from his mother, who developed PHEO/PGL. We show that this is a gain-of-function mutation and demonstrate no loss-of-heterozygosity or additional somatic mutation of HIF2A in the tumor, indicating HIF2A (F374Y) may be predisposing rather than causative of PHEO/PGL. This report, in view of two other concomitantly reported PHEO/PGL patients with somatic mutations of HIF2A and polycythemia, underscores the PHEO/PGL-promoting potential of mutations of HIF2A that alone are not sufficient for PHEO/PGL development.
Topics: Aged, 80 and over; Amino Acid Sequence; Base Sequence; Basic Helix-Loop-Helix Transcription Factors; Female; Germ-Line Mutation; Humans; Male; Middle Aged; Models, Molecular; Molecular Sequence Data; Paraganglioma; Polycythemia; Protein Conformation; Sequence Alignment
PubMed: 23090011
DOI: 10.1007/s00109-012-0967-z -
The Practitioner May 2005