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Erythrocytosis - Europe PMC

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Last Updated: 28 April 2022

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Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.

42 patients with 38 unrelated patients and one family with high haematocrit values were investigated in this report, as well as one family who had JAK-2 mutation negative with high haematocrit values. In all patients, Endogenous Erythroid colony assay was performed, but curiously EEC colonies were higher in EPAS1 and EPOR mutated patients compared to non-mutated patients. In all these patients, 19% of patients had mutations, in exon12 of EPAS1 and exon 8 of EPO-R genes, which was exon12. MW 600850: c. 1183G > C, MW_600851: C. 1028A > C in EPO-R gene were discovered in the study group, indicating two novel missense mutations. MW_600848. c. 1969C > T nonsense mutation and five others; MW_619915:c. 1689G > C, W_619914: c. 169914 > C, MW_619915> C. 1879G> T, MW_619915: T nonsense mutation and five MW_619914:c. 1969C> T nonsense mutation and five MW_619915: c. For the first time in India in CE patients, novel mutations in the EPAS1 and 25 EPO-R genes correlating with EEC positivity were found.

Source link: https://europepmc.org/article/MED/35395428


Potential limitations of diagnostic standard codes to distinguish polycythemia vera and secondary erythrocytosis.

Polycythemia vera, a bone marrow inflammatory neoplasm characterized by trilinear cell proliferation, as well as secondary erythrocytosis, a group of heterogeneous disorders characterized by elevated EPO gene transcription is seen in polycythemia vera, a pattern of heterogeneous disorders characterized by elevated EPO gene transcription. We retrospectively reviewed the electronic medical records of adult patients with ICD codes of polycythemia and/or erythrocytosis who had been screened for the presence of the JAK2V617F mutation. According to the World Health Organisation's 2016 diagnostic guidelines, we checked the ICD code-based diagnoses, ensuring that these patients met the criteria set by the evaluating physician for PV or SE. When research results are published, limitations must be considered. Studies based solely on ICD codes could have a potential effect on patient care and public health.

Source link: https://europepmc.org/article/MED/35304527


The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Von Hippel-Lindau disease is a familial multisystem neoplastic disease that arises from germline disease-associated variants of the VHL tumor suppressor gene on chromosome 3. VHL disease and erythrocytosis are both associated with the formation of VHL disease and erythrocytosis. VHL variations causing tumor formation seem to exist in between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor formation. Knowing the pathogenic consequences of VHL variants may help predict the prognosis and patient care.

Source link: https://europepmc.org/article/MED/35205407


Is obstructive sleep apnea associated with erythrocytosis? A systematic review and meta-analysis.

Objective This systematic review and meta-analysis was designed to investigate the relationship between obstructive sleep apnea and erythrocytosis. In this meta-analysis, eleven eligible studies with a total of 4608 patients with OSA were included in this meta-analysis. During patients with OSA who were significantly higher than in controls, hematocrit values were substantially higher in patients with OSA. The striking differences in hematocrit values between patients and controls were only evident in the severe OSA group, but not in the mild and moderate OSA groups when analyses were stratified by disease severity. In studies involving only female patients and in ones published after 2012, significant differences in hematocrit values between patients and controls remained stable in subgroup analyses according to sex and publication year. Conclusions The hematocrit value in patients with OSA, particularly in severe patients, was dramatically elevated in comparison to that in controls, according to a meta-analysis.

Source link: https://europepmc.org/article/MED/35434329


'Bouncing Back' From Subclinical Malaria: Inflammation and Erythrocytosis After Resolution of P. falciparum Infection in Gambian Children.

Recent malaria has been attributed to an elevated risk of systemic bacterial infection. At the end of the annual malaria transmission season, 1650 healthy Gambian children aged 8-15 years were tested for P. falciparum infection and/or anaemia to determine the biological consequences of persistent and recently treated malaria infections and associated haemolysis. Children and children with moderate to severe anaemia were age matched to healthy, uninfected, non-anaemic controls, and screened again 2 months later. Children who had persistent parasite burdens were stable and did not differ significantly in terms of proinflammatory markers from healthy, uninfected children, and did not differ significantly haematologically or in terms of proinflammatory markers. However, IL-10 levels in persistently infected children were also linked to parasite density, indicating a tolerogenic reaction to persistent infection. Compared to other groups of children, children who properly treated their infections exhibited minimal erythrosis and elevated levels of pro-inflammatory markers.

Source link: https://europepmc.org/article/MED/35154104

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions