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Hipertensión Portal , Humanos , Embarazo , Femenino , Hipertensión Portal/diagnóstico , Hipertensión Portal/complicaciones , Hipertensión Portal/etiología , Adulto , Policitemia/diagnóstico , Policitemia/etiología , Policitemia/complicaciones , Complicaciones Hematológicas del Embarazo/diagnóstico , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Trombocitemia Esencial/complicaciones , Trombocitemia Esencial/diagnósticoAsunto(s)
Síndrome Metabólico , Policitemia , Inhibidores del Cotransportador de Sodio-Glucosa 2 , Testosterona , Personas Transgénero , Humanos , Masculino , Policitemia/inducido químicamente , Policitemia/epidemiología , Testosterona/efectos adversos , Inhibidores del Cotransportador de Sodio-Glucosa 2/efectos adversos , Inhibidores del Cotransportador de Sodio-Glucosa 2/uso terapéutico , Síndrome Metabólico/tratamiento farmacológico , Síndrome Metabólico/epidemiología , Prevalencia , FemeninoRESUMEN
Wang, Bowen, Mengjia Peng,, Liheng Jiang,, Fei Fang,, Juan Wang,, Yan Li,, Ruichen Zhao,, and Yuliang Wang,. A Rare Case of High-Altitude Polycythemia Complicated by Spontaneous Splenic Rupture. High Alt Med Biol. 25:247-250, 2024.-High-altitude polycythemia, a condition characterized by an increase in red blood cellRBC mass, can occur after prolonged exposure to high altitudes. While several studies have explored the complications associated with high-altitude polycythemia, there is currently no literature available on spontaneous spleen rupture caused by high-altitude polycythemia. Here, we reported a case of acute abdominal pain and hemodynamic instability in a 36-year-old male who had been residing at high altitude for 6 years, without any recent history of trauma. Computed tomography imaging revealed significant fluid accumulation in the abdomen, and a tear of the splenic capsule was identified during the following laparotomy. Subsequent evaluations confirmed the presence of polycythemia secondary to prolonged high-altitude exposure as the underlying etiology. This case served as an important reminder that high-altitude polycythemia could lead to serious complications, such as spontaneous spleen rupture. Clinicians should be aware of this potential complication and consider it in the differential diagnosis of patients presenting with abdominal pain and hemodynamic instability in this population.
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Altitud , Policitemia , Rotura del Bazo , Humanos , Masculino , Adulto , Policitemia/etiología , Policitemia/complicaciones , Rotura del Bazo/etiología , Rotura Espontánea/etiología , Tomografía Computarizada por Rayos X , Dolor Abdominal/etiología , Mal de Altura/complicaciones , Mal de Altura/etiologíaRESUMEN
INTRODUCTION: Pilots are frequently exposed to thrombotic risk as a result of immobility from air travel. As hypoxemia is associated with secondary polycythemia, and polycythemia increases the risk of thrombosis, intermittent exposure to high-altitude hypoxic environments could escalate the risk of thrombosis in pilots. Our objectives were to find the prevalence of polycythemia in airplane pilots (primary outcome) and to assess associated risk factors of polycythemia (secondary outcome).METHODS: This study is a cross-sectional descriptive study. Data was collected from paper-based and computerized medical records of airplane pilots who applied for Class 1 Aviation Medical Certificate renewal at the Institute of Aviation Medicine, Royal Thai Air Force, Bangkok, Thailand, in 2018. The data was sampled by a simple random sampling technique.RESULTS: A total of 386 paper-based records were sampled. Of those, 29 (7.5%) of the pilots met polycythemia criteria. Spearman's correlation analysis showed a significant positive correlation between Body Mass Index (BMI) and hemoglobin (correlation coefficient = 0.127) and between BMI and hematocrit (correlation coefficient = 0.105). In multivariate logistic regression of each variable on polycythemia as defined by hemoglobin alone, piloting a non-pressurized aircraft was found to be an independent predictor of polycythemia (odds ratio = 4.3).DISCUSSION: The prevalence of polycythemia in airplane pilots was 7.5%. Operating a non-pressurized aircraft was a significant risk factor of polycythemia, and pilots with higher BMI were more likely to have increased red blood cell parameters.Thanapaisan P, Plaingam M, Manyanont S. Polycythemia prevalence and risk factors in pilots. Aerosp Med Hum Perform. 2024; 95(9):683-687.
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Medicina Aeroespacial , Pilotos , Policitemia , Humanos , Policitemia/epidemiología , Factores de Riesgo , Prevalencia , Estudios Transversales , Masculino , Adulto , Pilotos/estadística & datos numéricos , Tailandia/epidemiología , Persona de Mediana Edad , Hematócrito , Femenino , Índice de Masa Corporal , Hemoglobinas/análisis , Personal Militar/estadística & datos numéricos , AeronavesRESUMEN
TEMPI syndrome is a rare, acquired disorder with multisystemic manifestations. It is classified as a plasma cell disorder and is characterized by telangiectasias, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunt. Even though TEMPI's pathophysiology remains elusive, it responds to anti-myeloma therapy indicating that the monoclonal protein or clone plays a key role. We present a challenging case of a 73-year-old man with erythrocytosis and deteriorating renal function with nephrotic-range proteinuria in whom after extensive work up, the diagnosis of TEMPI syndrome was made. He was received treatment with daratumumab-bortezomib-cyclophosphamide and dexamethasone (Dara-VCD) and achieved a hematological and clinical response. We also report preliminary data on a multiplex assay for cytokines and growth factors for two patients with TEMPI syndrome and note lower levels for non-specific innate immunity related cytokines. A direct link between renal impairment and TEMPI syndrome is not currently established; cytokine deregulation could potentially be involved in the ischemic changes observed in the renal biopsy of our patient.
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Policitemia , Humanos , Anciano , Masculino , Policitemia/diagnóstico , Policitemia/terapia , Paraproteinemias/diagnóstico , Paraproteinemias/complicaciones , Síndrome , Ciclofosfamida/uso terapéutico , Ciclofosfamida/administración & dosificación , Bortezomib/uso terapéutico , Bortezomib/administración & dosificación , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales/administración & dosificación , Dexametasona/uso terapéutico , Dexametasona/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéuticoRESUMEN
High-altitude polycythemia (HAPC) is a common chronic altitude disease caused by living in low-pressure and low-oxygen environment. At present, there is still no effective cure for HAPC. HIF-2α may play an important role in the development of HAPC in regulating the increased red blood cell excessively induced by HIF-EPO and the blood vessel formation induced by VEGF-VEGFR. Here, we established a rat HAPC model and treated it with the HIF-2α inhibitor PT2385. We mainly evaluated the therapeutic effect of PT2385 on HAPC rats by observing the changes in rat phenotype, tissue and organ damage, red blood cell and hemoglobin content, angiogenesis, lipid peroxidation reaction, and inflammatory factors. The results showed that PT2385 treatment improved the congestion phenotype characteristics, inhibited increased erythrocytes and hemoglobin, reduced blood vessel formation, lipid peroxidation, and inflammation, and reduced tissue and organ damage in HAPC rats. This study preliminarly explains the physiological, pathological, and immunological effects of PT2385 treatment for HAPC. It provides a new idea, a reliable experimental basis, and theoretical support for the clinical prevention and treatment of HAPC.
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Mal de Altura , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico , Policitemia , Ratas Sprague-Dawley , Animales , Policitemia/tratamiento farmacológico , Masculino , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/antagonistas & inhibidores , Mal de Altura/tratamiento farmacológico , Peroxidación de Lípido/efectos de los fármacos , Ratas , Eritrocitos/efectos de los fármacos , Hemoglobinas/metabolismo , Altitud , Pirazoles/farmacología , Pirazoles/uso terapéutico , Indanos , SulfonasRESUMEN
BACKGROUND: Pulmonary arteriovenous malformations are a relatively uncommon medical condition, affecting roughly 1 in every 2500 individuals. Of those suffering from pulmonary arteriovenous malformations, 80% have an underlying genetic condition: hereditary hemorrhagic telangiectasia. CASE PRESENTATION: We present the case of a 20-year-old Pakistani male with a history of persistent slower-onset frontal headaches that increased in severity within the course of the day. His hemoglobin was 18 g/dl, indicating polycythemia, for which he had undergone seven venesections in a month previously. His physical examination was unremarkable. His computed tomography scan depicted multiple dilated tortuous vessels with branching linear opacities in the right lower lobe of the lungs. The multiple feeding arteries were supplied by the right main pulmonary artery, and the large draining veins led to the right inferior pulmonary vein. This was identified as a diffuse pulmonary arteriovenous malformation. He was recommended for a right pulmonary artery angiogram. It showed multiple tortuous vessels with a nidus and large draining veins-features of a diffuse arteriovenous malformation in the right lower lobe of the lung consistent with the computed tomography scan. Embolization of two of these vessels feeding the arteriovenous malformation was conducted, using Amplatzer Vascular plug 2, whereas multiple pushable coils (five coils) were used for embolizing the third feeding vessel. This achieved 70-80% successful embolization of right pulmonary AVM; however, some residual flow was still seen in the arteriovenous malformation given the complexity of the lesion. Immediately after, his oxygen saturation improved from 78% to 96%. CONCLUSION: Diffuse pulmonary arteriovenous malformations, as seen in this patient, are rare, accounting for less than 5% of total pulmonary arteriovenous malformations diagnosed. The patient presented with a complaint of progressive frontal headaches, which can be attributed to low oxygen saturation or the presence of a cerebral arteriovenous malformation. There was no history of hereditary hemorrhagic telangiectasia in the patient's family. Furthermore, although most patients with hereditary hemorrhagic telangiectasia and hence pulmonary arteriovenous malformation have complaints of iron-deficiency anemia, our patient in contrast was suffering from polycythemia. This can be explained as a compensatory mechanism in hypoxemic conditions. Moreover, the patient had no complaint of hemoptysis or epistaxis, giving a varied presentation in comparison with a typical pulmonary arteriovenous malformation.
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Malformaciones Arteriovenosas , Embolización Terapéutica , Cefalea , Policitemia , Arteria Pulmonar , Venas Pulmonares , Humanos , Masculino , Policitemia/complicaciones , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Adulto Joven , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/diagnóstico por imagen , Cefalea/etiología , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Fístula ArteriovenosaRESUMEN
To evaluate the efficacy of erythrocyte apheresis on the treatment of secondary erythrocytosis. Patients with secondary erythrocytosis who had visited the Department of Hematology at the Qinghai University Affiliated Hospital between January 2021 and May 2022 were enrolled. Based on the treatment method used, the patients were divided into erythrocytapheresis group and bloodletting group. In total, 50 patients were treated using a hemocyte separator and 36 patients were treated with bloodletting. The outcomes of 2 groups were compared. Compared with the bloodletting group, the clinical symptoms improved, blood routine indicators such as RBC, Hb, and HCT significantly reduced, and the progression rate was lower in the erythrocytapheresis group. Erythrocytic apheresis is effective and safe for the treatment of secondary erythrocytosis.
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Eliminación de Componentes Sanguíneos , Policitemia , Humanos , Policitemia/terapia , Policitemia/sangre , Femenino , Masculino , Persona de Mediana Edad , Eliminación de Componentes Sanguíneos/métodos , Adulto , Resultado del Tratamiento , Venodisección/métodos , Eritrocitos , AncianoRESUMEN
INTRODUCTION: In transgender individuals assigned female at birth, testosterone therapy is employed for body masculinization. Guidelines recommend close monitoring for potential side effects of hormonal therapy, especially during the first year. Erythrocytosis is a common finding during testosterone therapy and has been associated with a potential risk of thrombotic and cardiovascular events. Currently, the hematologic effects of testosterone therapy are understudied, with existing data primarily derived from the cisgender male population. The aim of this study was to comprehensively examine the hematological changes induced by testosterone therapy in the transgender population. EVIDENCE ACQUISITION: A systematic search was conducted using the electronic database PubMed. EVIDENCE SYNTHESIS: Thirty-six manuscripts were retrieved. After screening for original studies, 19 articles were included. Selected articles were published between 2005 and 2023. CONCLUSIONS: In our systematic review, the prevalence of erythrocytosis varied from 0% to 29.3%, with severe erythrocytosis ranging from 0.5% to 2.3%. Testosterone therapy was associated with an increase in hemoglobin and hematocrit, particularly within the first year of therapy. Factors such as serum testosterone levels, along with the duration, doses, and formulation of testosterone therapy, were found to be associated with the development of erythrocytosis. Further research is crucial to provide specific recommendations for clinical practice.
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Policitemia , Testosterona , Personas Transgénero , Policitemia/inducido químicamente , Policitemia/epidemiología , Policitemia/sangre , Humanos , Testosterona/efectos adversos , Testosterona/sangre , Testosterona/uso terapéutico , Testosterona/administración & dosificación , Masculino , Femenino , HematócritoAsunto(s)
Anemia Hemolítica Congénita , Hidropesía Fetal , Canales Iónicos , Policitemia , Humanos , Policitemia/genética , Anemia Hemolítica Congénita/genética , Anemia Hemolítica Congénita/patología , Canales Iónicos/genética , Hidropesía Fetal/genética , Hidropesía Fetal/diagnóstico , Hidropesía Fetal/patología , Masculino , Femenino , MutaciónRESUMEN
Large-volume therapeutic phlebotomy is the mainstay of hemochromatosis treatment and offers an opportunity to investigate the hemodynamic changes during acute hypovolemia. An otherwise healthy 64-year-old male with hemochromatosis participated. On nine separate visits, 1000 mL therapeutic phlebotomy was performed. On one occasion, pre- and post-phlebotomy orthostatic challenge with 27° reverse Trendelenburg position was administered. Mean arterial pressure, heart rate, and stroke volume were measured continuously during the procedures. The patient's tolerance to the interventions was continuously evaluated. The procedures were well tolerated by the patient. Mean arterial pressure was maintained during hemorrhage and following phlebotomy in both supine and reverse Trendelenburg positions, primarily through an increase in heart rate and systemic vascular resistance. The present study found that 1000 mL therapeutic phlebotomy in a patient with hemochromatosis may be acceptably and safely used to model hemorrhage. The approach demonstrates high clinical applicability and ethically robustness in comparison with volunteer studies.
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Hemocromatosis , Flebotomía , Policitemia , Humanos , Masculino , Flebotomía/métodos , Persona de Mediana Edad , Policitemia/terapia , Hemocromatosis/terapia , Frecuencia Cardíaca , Hemorragia/terapia , Hemorragia/etiologíaRESUMEN
BACKGROUND: Polycythemia is a common medical problem, frequently acquired and reactive to secondary conditions. High-altitude-associated hypoxia contributes to the greater prevalence of polycythemia at altitude. Primary clonal polycythemia vera (PV), even though it is rare, requires a different therapeutic approach. Suspicion of PV usually drives the diagnostic workup of polycythemia. METHODS: In this retrospective lab record study, we collected all JAK2 tests requested over a three-year period. We analyzed requests that were made for the evaluation of polycythemia. Complete blood count (CBC) and imaging of the abdomen were collected. RESULTS: Out of 208 total requests, 136 were for the purpose of polycythemia evaluation. JAK2 mutation was positive (confirming the presence of PV) in 22 (16.7%) cases. PV patients have the usual demographics reported elsewhere. Additionally, PV patients exhibit distinct hemogram results featuring leukocytosis, thrombocytosis, and hypochromic microcytic red blood cells (RBCs) related to the associated iron deficiency. CONCLUSIONS: Many patients with polycythemia at altitude might be unnecessarily considered for an evaluation of PV, if hemoglobin/hematocrit is the sole deciding criterion. PV patients have a distinct CBC pattern that can be exploited to better select patients with polycythemia for further evaluation and thus reduce unnecessary workups.
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Altitud , Janus Quinasa 2 , Policitemia Vera , Humanos , Policitemia Vera/diagnóstico , Policitemia Vera/genética , Policitemia Vera/sangre , Estudios Retrospectivos , Femenino , Masculino , Persona de Mediana Edad , Janus Quinasa 2/genética , Adulto , Recuento de Células Sanguíneas , Anciano , Mutación , Policitemia/diagnóstico , Policitemia/sangreRESUMEN
An absolute erythrocytosis is present when the red cell mass is greater than 125% of the predicted. This is suspected when the hemoglobin or hematocrit is above the normal range. An erythrocytosis can be classified as primary or secondary and congenital or acquired. The commonest primary acquired disorder is polycythemia vera. The diagnostic criteria for PV have evolved over time and this is the main diagnosis managed in hematology clinics. There are a variety of rare congenital causes both primary and secondary. In particular in young patients and/or those with a family history a congenital cause is suspected. There remains a larger cohort with acquired erythrocytosis mainly with non-hematological pathology. In order to explore for a cause of erythrocytosis, measurement of the erythropoietin level is a first step. A low erythropoietin level indicates a primary cause and a normal or elevated level indicates a secondary etiology. Further investigation is then dictated by initial findings and includes mutational testing with PCR and NGS for those in whom a congenital cause is suspected. Following this possibly bone marrow biopsy, scans, and further investigation as indicated by history and initial findings. Investigation is directed toward the identification of those with a hematological disorder which would be best managed following guidelines in hematology clinics and referral elsewhere in those for whom there are non-hematological reasons for the elevated hemoglobin.
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Policitemia , Humanos , Policitemia/diagnóstico , Policitemia/congénito , Policitemia/genética , Policitemia/sangre , Eritropoyetina/sangre , Hemoglobinas/análisis , Policitemia Vera/diagnóstico , Policitemia Vera/genética , Policitemia Vera/sangreRESUMEN
PURPOSE: To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options. METHODS: This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available. RESULTS: 1250 MC pregnancies were evaluated in our institution. 50 pregnancies (4%) were diagnosed with TAPS, 29 underwent a fetal brain MRI. 13/29 pregnancies (44.8%) demonstrated brain findings at MRI in at least a twin. Neuroradiological findings were detected in 14/57 twins (24.6%). We detected four main categories of findings: hemorrhagic lesions, T2-weighted white-matter hyperintensities (WMH), brain edema-swelling and venous congestion. Nineteen findings were present in the anemic and three in the polycythemic twins, with a statistically significant ratio between the two groups (p-value = 0.01). Intrauterine MRI follow-up demonstrated the sequalae of hemorrhagic lesions. A complete regression of brain swelling, veins prominence and T2-WMHs was demonstrated after treatment. Postnatal imaging confirmed prenatal features. CONCLUSIONS: Our work demonstrates that TAPS-related MRI anomalies consisted in edematous/hemorrhagic lesions that occur mostly in anemic rather than in polycythemic twins. Fetoscopic laser surgery could have a potential decongestant role. Therefore, prenatal MRI may help in counselling and management in TAPS pregnancies, especially for the planning of therapy and the monitoring of its efficacy.
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Transfusión Feto-Fetal , Imagen por Resonancia Magnética , Humanos , Femenino , Embarazo , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/complicaciones , Adulto , Embarazo Gemelar , Diagnóstico Prenatal/métodos , Policitemia/diagnóstico por imagen , Anemia/diagnóstico por imagenRESUMEN
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 JAK2V617F 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.
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Eritroblastos , Eritropoyesis , Factor de Transcripción GATA1 , Hemo , Lipoproteínas , Macrófagos , Policitemia , Policitemia/metabolismo , Policitemia/genética , Policitemia/patología , Eritroblastos/metabolismo , Hemo/metabolismo , Humanos , Animales , Lipoproteínas/metabolismo , Macrófagos/metabolismo , Ratones , Factor de Transcripción GATA1/metabolismo , Factor de Transcripción GATA1/genética , Janus Quinasa 2/metabolismo , Janus Quinasa 2/genética , Trombomodulina/metabolismo , Trombomodulina/genética , Ratones Noqueados , Ferroquelatasa/metabolismo , Ferroquelatasa/genética , Masculino , Sistema de Señalización de MAP Quinasas , Ratones Endogámicos C57BL , FemeninoRESUMEN
Key studies in pre-leukemic disorders have linked increases in pro-inflammatory cytokines with accelerated phases of the disease, but the precise role of the cellular microenvironment in disease initiation and evolution remains poorly understood. In myeloproliferative neoplasms (MPNs), higher levels of specific cytokines have been previously correlated with increased disease severity (tumor necrosis factor-alpha [TNF-α], interferon gamma-induced protein-10 [IP-10 or CXCL10]) and decreased survival (interleukin 8 [IL-8]). Whereas TNF-α and IL-8 have been studied by numerous groups, there is a relative paucity of studies on IP-10 (CXCL10). Here we explore the relationship of IP-10 levels with detailed genomic and clinical data and undertake a complementary cytokine screen alongside functional assays in a wide range of MPN mouse models. Similar to patients, levels of IP-10 were increased in mice with more severe disease phenotypes (e.g., JAK2V617F/V617F TET2-/- double-mutant mice) compared with those with less severe phenotypes (e.g., CALRdel52 or JAK2+/V617F mice) and wild-type (WT) littermate controls. Although exposure to IP-10 did not directly alter proliferation or survival in single hematopoietic stem cells (HSCs) in vitro, IP-10-/- mice transplanted with disease-initiating HSCs developed an MPN phenotype more slowly, suggesting that the effect of IP-10 loss was noncell-autonomous. To explore the broader effects of IP-10 loss, we crossed IP-10-/- mice into a series of MPN mouse models and showed that its loss reduces the erythrocytosis observed in mice with the most severe phenotype. Together, these data point to a potential role for blocking IP-10 activity in the management of MPNs.
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Quimiocina CXCL10 , Trastornos Mieloproliferativos , Policitemia , Animales , Humanos , Masculino , Ratones , Quimiocina CXCL10/genética , Quimiocina CXCL10/metabolismo , Modelos Animales de Enfermedad , Janus Quinasa 2/genética , Janus Quinasa 2/metabolismo , Ratones Noqueados , Trastornos Mieloproliferativos/genética , Trastornos Mieloproliferativos/patología , Trastornos Mieloproliferativos/metabolismo , Policitemia/genética , Policitemia/patología , Policitemia/etiología , FemeninoRESUMEN
The study aimed to evaluate the association between high-altitude polycythemia and hypertension in adults residing on Anduo County's plateau, which is located 4700 meters above sea level. A total of 387 individuals participated in the cross-sectional survey conducted between April and May of 2021. Interviews, physical inspections, and laboratory tests were employed to gather information about all of the subjects. The association between high-altitude polycythemia and hypertension was assessed using multivariable logistic regression models. The average age of the 387 participants was 32.6 ± 6.3 years. Of these participants, 260 (67%) were male. The overall prevalence of hypertension was 27.1% (57/380). When stratified by gender, the prevalence was 12.6% (16/127) in females and 34.2% (89/260) in males. The overall prevalence of high-altitude polycythemia was 19.6% (76/387). When stratified by gender, the prevalence was 26.2% (68/260) in males and 6.3% (8/127) in females. During logistic regression analysis, we found that participants with elevated hemoglobin per 10 g/L had a 26% greater risk of hypertension (adjusting for odds ratio [OR], 1.26; 95% confidence interval [CI], 1.11-1.44). Additionally, high-altitude polycythemia greatly increased the risk of hypertension in comparison to non-high-altitude polycythemia (OR, 3.01; 95% CI, 1.66-5.44, P < 0.001). The consistency of the results was further demonstrated by stratified and interaction analyses, showing that Hans individuals had a higher risk of hypertension. High-altitude polycythemia is positively associated with hypertension in adults residing at Tibetan ultrahigh altitudes. The results of the investigation may aid in the planning of future research and guide the development of targeted healthcare practices for high-altitude populations, particularly among Han Chinese residents of the Tibetan Plateau.
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Altitud , Hipertensión , Policitemia , Humanos , Masculino , Femenino , Policitemia/epidemiología , Policitemia/diagnóstico , Adulto , Estudios Transversales , Hipertensión/epidemiología , Hipertensión/diagnóstico , Tibet/epidemiología , Prevalencia , Factores de Riesgo , Persona de Mediana Edad , Adulto JovenRESUMEN
The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing. The JAK2 Somatic Mutation Screening Kit was used for genetic testing. Machine learning models were trained and tested using Python programming language. Out of 458 cases, JAK2V617F mutation was identified in 13.3%. There were significant differences in complete blood count parameters between mutation carriers and non-carriers. Various models were trained with data, with the random forest (RF) model demonstrating superior precision, recall, F1-score, accuracy, and area under the receiver operating characteristic, all reaching 100%. Gradient boosting (GB) model also showed high scores. When compared with existing algorithms, the RF and GB models displayed superior performance. The RF and GB models outperformed other methods in accurately identifying and classifying erythrocytosis cases, offering potential reductions in unnecessary testing and costs.
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Inteligencia Artificial , Policitemia , Humanos , Aprendizaje Automático , Algoritmos , Hemoglobinas , Janus Quinasa 2/genéticaRESUMEN
Background and Objectives: Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often present with symptoms associated with neoplasms or unusual clinical features such as paraneoplastic syndromes (PNS), including hypoglycemia, hypercholesterolemia, thrombocytosis, and erythrocytosis. Our study aimed to investigate the prevalence, clinical characteristics, and survival outcomes associated with PNS in HCC patients and assess each PNS's impact on patient survival. Materials and Methods: We conducted a retrospective analysis of PNS clinical features and survival among consecutive HCC patients diagnosed at our department over seven years, comparing them with HCC patients without PNS. The study involved a retrospective data evaluation from 378 patients diagnosed with HCC between January 2016 and October 2023. Results: We obtained a PNS prevalence of 25.7%, with paraneoplastic hypercholesterolemia at 10.9%, hypoglycemia at 6.9%, erythrocytosis at 4.5%, and thrombocytosis at 3.4%. Patients with PNS tended to be younger and predominantly male. Multivariate analysis revealed a strong correlation between PNS and levels of alpha-fetoprotein and tumor size, with diabetes also showing a significant statistical association (p < 0.05). Subgroup analysis based on specific paraneoplastic syndromes demonstrated shorter survival in patients with PNS, albeit without significant statistical differences, except for hypoglycemia (p < 0.0001). Matched analysis indicated a shorter survival rate for patients with PNS, although no significant statistical differences were observed. Conclusions: PNS are frequently observed in HCC cases and are associated with unfavorable prognoses and decreased survival rates due to their correlation with increased tumor burdens. However, they do not independently predict poor survival. The impact of individual PNS on HCC prognosis varies.