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Medicina Intensiva Dec 2020
Topics: Altitude; Altitude Sickness; COVID-19; Health Care Surveys; Humans; Hypoxia; Hypoxia-Inducible Factor 1; Nitric Oxide; Polycythemia; Publishing; Pulmonary Arterial Hypertension; Pulmonary Disease, Chronic Obstructive; SARS-CoV-2; Virus Replication
PubMed: 32571526
DOI: 10.1016/j.medin.2020.05.005 -
Current Oncology (Toronto, Ont.) Sep 2022Since the identification of and exon 12 mutations as driver mutations in polycythemia vera (PV) in 2005, molecular testing of these mutations for patients with...
Since the identification of and exon 12 mutations as driver mutations in polycythemia vera (PV) in 2005, molecular testing of these mutations for patients with erythrocytosis has become a routine clinical practice. However, the incidence of myeloid mutations other than the common mutation in unselected patients referred for elevated hemoglobin is not well studied. This study aimed to characterize the mutational landscape in a real-world population of patients referred for erythrocytosis using a targeted next-generation sequencing (NGS)-based assay. A total of 529 patients (hemoglobin levels >160 g/L in females or >165 g/L in males) were assessed between January 2018 and May 2021 for genetic variants using the Oncomine Myeloid Research Assay (ThermoFisher Scientific, Waltham, MA, USA) targeting 40 key genes with diagnostic and prognostic implications in hematological conditions (17 full genes and 23 genes with clinically relevant "hotspot" regions) and a panel of 29 fusion driver genes (>600 fusion partners). mutations were detected in 10.9% (58/529) of patients, with 57 patients positive for , while one patient had a exon 12 mutation. Additional mutations were detected in 34.5% (20/58) of -positive patients: (11; 19%), (2;3.4%), (2; 3.4%), (2; 3.4%), (1; 1.7%), (1; 1.7%), and (1; 1.7%). Diagnosis of PV was suspected in 2 -negative patients based on the 2016 World Health Organization (WHO) diagnostic criteria. Notably, one patient carried mutations in the and genes, and the other patient carried mutations in the and genes. Three -negative patients with elevated hemoglobin who tested positive for fusion were diagnosed with chronic myeloid leukemia (CML) and excluded from further analysis. The remaining 466 -negative patients were diagnosed with secondary erythrocytosis and mutations were found in 6% (28/466) of these cases. Mutations other than mutations were frequently identified in patients referred for erythrocytosis, with mutations in the and genes being detected in 34.5% of -positive PV patients. The presence of additional mutations, such as in this population has implications for prognosis. Both the incidence and mutation type identified in patients with secondary erythrocytosis likely reflects incidental, age-associated clonal hematopoiesis of indeterminate potential (CHIP).
Topics: Male; Female; Humans; Polycythemia; Polycythemia Vera; Mutation; High-Throughput Nucleotide Sequencing; Hemoglobins
PubMed: 36290845
DOI: 10.3390/curroncol29100568 -
Asian Journal of Surgery Mar 2023
Topics: Humans; Polycythemia; Hemangioblastoma; Kidney Neoplasms; Biomarkers, Tumor
PubMed: 36184290
DOI: 10.1016/j.asjsur.2022.09.070 -
Heart, Lung & Circulation Mar 2022Polycythaemia vera (PV) is a condition that may potentially put patients undergoing cardiac surgery at an increased risk of bleeding and thrombosis; however, there is... (Review)
Review
OBJECTIVES
Polycythaemia vera (PV) is a condition that may potentially put patients undergoing cardiac surgery at an increased risk of bleeding and thrombosis; however, there is currently a paucity of literature regarding the management of these patients. We aim to examine the literature in this systematic review to indicate the interventions that may be considered to minimise complications.
METHODS
We conducted a literature search using keywords and MeSH terms to identify articles discussing PV and cardiac surgery. The studies were identified and qualitatively analysed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) protocol.
RESULTS
In total, 10 case reports representing 11 patients were identified for this systematic review and were included in qualitative analysis. 63.6% of patients had preoperative intermittent phlebotomy, and the majority of patients received postoperative therapy that involved one antiplatelet agent and one anticoagulant. Generous perioperative fluid management, phlebotomy, preservation of core body temperature, early extubation, monitoring of myocardial ischaemia, infarction and vascular events, intense chest physiotherapy and patient mobilisation are important to consider to reduce the risk of complications arising from surgery.
CONCLUSION
These considerations should be systematically discussed in a multidisciplinary team, where the acute surgical need can be balanced appropriately against the risk of haemorrhage and thrombosis.
Topics: Anticoagulants; Coronary Artery Bypass; Humans; Platelet Aggregation Inhibitors; Polycythemia Vera; Thrombosis
PubMed: 34794873
DOI: 10.1016/j.hlc.2021.10.012 -
European Journal of Haematology Jun 2023The management to reduce risk of thromboembolic complications in polycythemia vera and essential thrombocythemia are well established, but for other conditions with...
INTRODUCTION
The management to reduce risk of thromboembolic complications in polycythemia vera and essential thrombocythemia are well established, but for other conditions with elevated hemoglobin, hematocrit, or platelets there are no consensus regarding treatment and follow up.
AIMS
To assess frequency of elevated blood values in patients with thromboembolic event, how many of these should be investigated further regarding myeloproliferative neoplasm and if the risk of recurrent event is depending on underlying condition.
METHODS
Retrospective cohort study of 3931 adult patients in the county of Norrbotten, Sweden, with thromboembolism during 2017 and 2018.
RESULTS
Of the 3931 patients, 1195 had either elevated Hb, HCT, or platelets fulfilling the 2016 revised WHO criteria for PV and ET, and out of these 411 should be evaluated regarding underlying myeloproliferative neoplasms. Unexplained thrombocytosis and secondary erythrocytosis were associated with the highest rate of recurrent event as well as the most inferior restricted mean survival time.
CONCLUSION
Elevated blood values are common in patients with thromboembolic event and the high risk of recurrent event and inferior restricted mean survival time in patients with unexplained thrombocytosis and secondary erythrocytosis implicates the importance of finding and managing the underlying condition.
Topics: Adult; Humans; Polycythemia; Cohort Studies; Retrospective Studies; Thrombocytosis; Polycythemia Vera; Thromboembolism; Myeloproliferative Disorders
PubMed: 36725666
DOI: 10.1111/ejh.13938 -
Nature Communications May 2024Bleeding and thrombosis are known as common complications of polycythemia for a long time. However, the role of coagulation system in erythropoiesis is unclear. Here, we...
Bleeding and thrombosis are known as common complications of polycythemia for a long time. However, the role of coagulation system in erythropoiesis is unclear. Here, we discover that an anticoagulant protein tissue factor pathway inhibitor (TFPI) plays an essential role in erythropoiesis via the control of heme biosynthesis in central macrophages. TFPI levels are elevated in erythroblasts of human erythroblastic islands with JAK2 mutation and hypoxia condition. Erythroid lineage-specific knockout TFPI results in impaired erythropoiesis through decreasing ferrochelatase expression and heme biosynthesis in central macrophages. Mechanistically, the TFPI interacts with thrombomodulin to promote the downstream ERK1/2-GATA1 signaling pathway to induce heme biosynthesis in central macrophages. Furthermore, TFPI blockade impairs human erythropoiesis in vitro, and normalizes the erythroid compartment in mice with polycythemia. These results show that erythroblast-derived TFPI plays an important role in the regulation of erythropoiesis and reveal an interplay between erythroblasts and central macrophages.
Topics: Polycythemia; Erythroblasts; Erythropoiesis; Heme; Humans; Animals; Lipoproteins; Macrophages; Mice; GATA1 Transcription Factor; Janus Kinase 2; Thrombomodulin; Mice, Knockout; Ferrochelatase; Male; MAP Kinase Signaling System; Mice, Inbred C57BL; Female
PubMed: 38729948
DOI: 10.1038/s41467-024-48328-8 -
The Journal of the Association of... Jan 2020
Observational Study
Topics: Humans; Polycythemia; Polycythemia Vera
PubMed: 31979931
DOI: No ID Found -
British Journal of Haematology Aug 2023Congenital erythrocytoses represent a heterogenous group of rare defects of erythropoiesis characterized by elevated erythrocyte mass. We performed molecular-genetic...
Congenital erythrocytoses represent a heterogenous group of rare defects of erythropoiesis characterized by elevated erythrocyte mass. We performed molecular-genetic analysis of 21 Czech patients with congenital erythrocytosis and assessed the mutual link between chronic erythrocyte overproduction and iron homoeostasis. Causative mutations in erythropoietin receptor (EPOR), hypoxia-inducible factor 2 alpha (HIF2A) or Von Hippel-Lindau (VHL) genes were detected in nine patients, including a novel p.A421Cfs*4 EPOR and a homozygous intronic c.340+770T>C VHL mutation. The association and possible cooperation of five identified missense germline EPOR or Janus kinase 2 (JAK2) variants with other genetic/non-genetic factors in erythrocytosis manifestation may involve variants of Piezo-type mechanosensitive ion channel component 1 (PIEZO1) or Ten-eleven translocation 2 (TET2), but this requires further research. In two families, hepcidin levels appeared to prevent or promote phenotypic expression of the disease. No major contribution of heterozygous haemochromatosis gene (HFE) mutations to the erythrocytic phenotype or hepcidin levels was observed in our cohort. VHL- and HIF2A-mutant erythrocytosis showed increased erythroferrone and suppressed hepcidin, whereas no overproduction of erythroferrone was detected in other patients regardless of molecular defect, age or therapy. Understanding the interplay between iron metabolism and erythropoiesis in different subgroups of congenital erythrocytosis may improve current treatment options.
Topics: Humans; Polycythemia; Hepcidins; Oxygen; Mutation; Receptors, Erythropoietin; Ion Channels
PubMed: 37246471
DOI: 10.1111/bjh.18891 -
Best Practice & Research. Clinical... Nov 2022Monochorionic (MC) twin pregnancies are at increased risk of neonatal morbidity and mortality due to the shared placenta with vascular connections that can give rise to... (Review)
Review
Monochorionic (MC) twin pregnancies are at increased risk of neonatal morbidity and mortality due to the shared placenta with vascular connections that can give rise to various complications, including twin-twin transfusion syndrome, twin anemia polycythemia sequence (TAPS), selective fetal growth restriction, and other hematological imbalances at birth. Each complication presents its own challenges and considerations in the neonatal period. Measurement of hemoglobin levels and reticulocyte count is required to establish a correct diagnosis. Placenta dye injection is needed to properly distinguish between the various conditions. Risk factors for adverse outcome in MC twins include prematurity, severe cerebral injury, and the type of MC pregnancy complication. We, therefore, recommend cerebral ultrasound examinations in all complicated MC twins at birth to rule out a severe brain injury. Lastly, we strongly encourage screening for hearing loss using automated auditory brainstem response in all spontaneous TAPS donors to prevent permanent speech development delay.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Fetofetal Transfusion; Polycythemia; Pregnancy, Twin; Placenta; Anemia; Twins, Monozygotic
PubMed: 35513960
DOI: 10.1016/j.bpobgyn.2022.03.016 -
Zeitschrift Fur Geburtshilfe Und... Aug 2022This study aimed to investigate the relationship between the characteristics and diameters of residual anastomoses and the occurrence of twin anemia-polycythemia...
OBJECTIVE
This study aimed to investigate the relationship between the characteristics and diameters of residual anastomoses and the occurrence of twin anemia-polycythemia sequence (TAPS) in twin-to-twin transfusion syndrome (TTTS) patients with placental vascular injection after fetoscopic laser surgery (FLS).
METHODS
A total of 90 cases of pregnant women who underwent FLS owing to TTTS were collected in the university hospital from May 2018 to December 2020. Therein, 40 cases received placental injection and were divided into the TAPS group and non-TAPS group according to the postoperative complications. The number of residual superficial anastomoses was counted and the diameter was measured.
RESULTS
Among the placentae of nine patients in the TAPS group, two cases had no superficial anastomoses, and seven cases had 16 superficial anastomoses, including eight arterio-venous (AV) anastomoses, two veno-arterial (VA) anastomoses, three arterio-arterial (AA) anastomoses and three veno-venous (VV) anastomoses. Among the placentae of 31 patients in the non-TAPS group, 19 cases had no superficial anastomoses, and 12 cases had 18 superficial anastomoses, including two AV anastomoses, five VA anastomoses, seven AA anastomoses, and four VV anastomoses; and both the two cases of AV anastomoses were accompanied by AA anastomoses. The number of AV anastomoses in the placentae of the TAPS group was significantly elevated compared with that in the non-TAPS group (<0.05). While there was no significant difference in the numbers of placentae with superficial anastomoses, the numbers of blood vessels with VA anastomoses, VV anastomoses, and AA anastomoses between the two groups (>0.05). Through analyzing the diameters of 34 superficial anastomoses in the two groups, it was shown that the diameters of AA anastomoses in the non-TAPS group were significantly larger than those in the TAPS group (=1.97, <0.05). There was no statistical difference in the diameters of AV anastomoses (=0.52, >0.05), VA anastomoses (=0.98, >0.05), and VV anastomoses (=0.36, >0.05). The differences of the birth weight and inter-twin hemoglobin difference were statistically significant (0.05). The result indicated that the differences between age, gestational weeks at operation, delivery, and mean operating times were not statistically significant (>0.05).
CONCLUSION
The increase in the number of AV anastomoses could obviously elevate the incidence of TAPS. The probability of TAPS occurrence is reduced following the increased diameters of AA anastomoses, demonstrating that AA anastomosis has a protective effect on TTTS patients.
Topics: Anemia; Chronic Disease; Female; Fetofetal Transfusion; Humans; Laser Therapy; Placenta; Polycythemia; Pregnancy; Twins, Monozygotic
PubMed: 35998656
DOI: 10.1055/a-1862-8571