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1.
Artículo en Inglés | MEDLINE | ID: mdl-39338002

RESUMEN

BACKGROUND: Chronic exposure to severe hypoxia causes an increase in hematocrit (Hct) and hemoglobin concentration ([Hb]), which can lead to excessive erythrocytosis (EE) and impact physical performance. This work aims to determine the differences in the six-minute walking test (6MWT) between EE and healthy subjects residing at more than 5000 m. METHODS: A prospective, cross-sectional study was performed on 71 men (36 healthy and 25 suffering from EE) living in La Rinconada, Peru (5100 m). Basal levels of [Hb] and Hct were obtained. All the subjects performed the 6MWT, and distance reached, vital signs, dyspnea, and fatigue (Borg scale) at the end of the test were recorded. RESULTS: The average [Hb] and Hct levels in the control group were 18.7 ± 1.2 g/dL and 60.4 ± 7.1%, respectively, contrasting with EE subjects, who showed 23.4 ± 1.6 g/dL and 73.6 ± 5.9% (p < 0.001). However, no statistically significant differences were observed in BMI or other anthropometric parameters. At the end of the 6MWT, the distance traveled and vital constants were similar between both groups, except for arterial oxygen saturation, which was consistently lower in subjects with EE throughout the test. CONCLUSION: EE does not significantly affect 6MWT performance at high altitudes, nor the hemodynamic control during moderate aerobic exercise of subjects who live permanently in a severely hypoxic environment.


Asunto(s)
Hipoxia , Policitemia , Prueba de Paso , Humanos , Policitemia/sangre , Policitemia/fisiopatología , Masculino , Estudios Transversales , Adulto , Hipoxia/fisiopatología , Estudios Prospectivos , Perú , Persona de Mediana Edad , Altitud , Hematócrito , Adulto Joven , Hemoglobinas/análisis
2.
PLoS One ; 19(9): e0305651, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39316567

RESUMEN

OBJECTIVE: Chronic and acute mountain sickness is known worldwide, but most of the available information comes from the eastern continent (Himalayas) without taking into account the west which has the most recent group located at altitude, the Andes. The aim of this study was to synthesize the evidence on the prevalence of acute and chronic mountain sickness in Latin American countries (LATAM). METHODS: A systematic search of the variables of interest was performed until July 8, 2023 in the Web of Science, Scopus, PubMed and Embase databases. We included studies that assessed the prevalence of mountain sickness in high-altitude inhabitants (>1500 m.a.s.l) who lived in a place more than 12 months. These were analyzed by means of a meta-analysis of proportions. To assess sources of heterogeneity, subgroup analyses and sensitivity analyses were performed by including only studies with low risk of bias and excluding extreme values (0 or 10,000 ratio). PROSPERO (CRD42021286504). RESULTS: Thirty-nine cross-sectional studies (10,549 participants) met the inclusion criteria. We identified 5 334 and 2 945 events out of 10,000 with acute and chronic mountain sickness in LATAM countries. The most common physiological alteration was polycythemia (2,558 events), while cerebral edema was the less common (46 events). Clinical conditions were more prevalent at high altitudes for both types of MS. CONCLUSION: Acute mountain sickness (AMS) occurs approximately in 5 out of 10 people at high altitude, while chronic mountain sickness (CMS) occurs in 3 out of 10. The most frequent physiological alteration was polycythemia and the least frequent was cerebral edema.


Asunto(s)
Mal de Altura , Altitud , Mal de Altura/epidemiología , Humanos , América Latina/epidemiología , Prevalencia , Policitemia/epidemiología , Edema Encefálico/epidemiología , Enfermedad Aguda , Estudios Transversales
3.
J Assoc Physicians India ; 72(9): 100-103, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39291528

RESUMEN

It is widely recognized that polycythemic patients with cyanotic congenital heart disease (CCHD) are at an increased risk for developing cerebrovascular accidents in the pediatric age-group. The literature provides conflicting and scarce data related to the prevalence of such events among the adult population. A prevalence rate of 10-13% of stroke and transient ischemic attacks has been reported in a cohort of adult patients with complex CCHD, but others have claimed that such events are rare. The treatment of hyperviscosity secondary to polycythemia with prophylactic phlebotomy is only rarely used in such patients, as it has been reported to result in decreased exercise tolerance and an increased frequency of stroke events. We describe a case of an adult male with CCHD and secondary polycythemia, manifesting as an acute ischemic stroke.


Asunto(s)
Cardiopatías Congénitas , Accidente Cerebrovascular Isquémico , Policitemia , Humanos , Policitemia/etiología , Masculino , Cardiopatías Congénitas/complicaciones , Accidente Cerebrovascular Isquémico/etiología , Adulto , Cianosis/etiología
4.
Zhonghua Xue Ye Xue Za Zhi ; 45(8): 795-800, 2024 Aug 14.
Artículo en Chino | MEDLINE | ID: mdl-39307731

RESUMEN

Chronic mountain sickness (CMS) or Monge syndrome is a disease that is prevalent at altitude above 2 500 meters. High altitude polycythemia (HAPC) is one subtype of CMS. EPAS1 and EGNL1 are the most critical high-altitude adaptation genes in the genome of the Tibetan population. The HIF-PHD-VHL system plays an important role in the pathogenesis of HAPC. The protease encoded by the SENP1 gene regulates hypoxia related transcription factors such as HIF and GATA to affect the expression of EPO or EPOR involved in red blood cell generation. With the development of genetic testing and omics technology, new progress in the fields of metabolomics, proteomics and metabolomics has been made in the pathogenesis of HAPC. The above new research results provide a preliminary basis for bone marrow hematoecology and hematopoietic regulation of HAPC. The diagnostic criteria for CMS have certain limitations, especially in patients with excessive erythrocytosis who should undergo genetic testing recommended for congenital and polycythemia vera. This article provides a review of the latest research on HAPC in various omics techniques, hematopoietic regulation and diagnostic processes which is more conducive to understand the pathogenesis. The clinical diagnosis of excessive erythrocytosis emphasizes the importance of genetic testing.


Asunto(s)
Mal de Altura , Policitemia , Humanos , Policitemia/genética , Mal de Altura/genética , Altitud , Proteómica/métodos , Metabolómica/métodos , Genómica/métodos , Multiómica
5.
Zhongguo Zhong Yao Za Zhi ; 49(17): 4805-4811, 2024 Sep.
Artículo en Chino | MEDLINE | ID: mdl-39307815

RESUMEN

High altitude polycythemia(HAPC) is one of the most common chronic high-altitude diseases and a prominent public health issue in the Qinghai-Xizang Plateau region of China. Tibetan medicine has provided a safe and effective treatment approach for HAPC, but there is currently no expert consensus on Tibetan medicine diagnosis and treatment for the disease. This consensus followed the principles of evidence-based medicine and learned the procedure and methods of Technical specifications on developing expert consensus for clinical practice guideline in traditional Chinese medicine recommended by China Association of Chinese Medicine. Five clinical issues were identified through literature search, expert interviews, clinical research, and conference consensus. The PICO principle was used for evidence retrieval, screening, and synthesis, and the opinions of experts on high-altitude diseases and cardiovascular and cerebrovascular diseases from major Tibetan medical institutions in China, as well as some traditional Chinese medicine(TCM), western medicine, and evidence-based experts, were widely solicited. Recommendations and consensus suggestions were formed through one expert consensus meeting and two rounds of Delphi expert questionnaire surveys. The consensus included disease diagnosis, etiology and pathogenesis, syndrome classification, clinical treatment, outcome evaluation, prevention and care, and other contents. Therapies for HAPC included Tibetan medicine treatments based on syndrome differentiation, single formula or patent medicine, and external treatment. Each treatment had corresponding levels of evidence and recommendations. This consensus was guided by solving clinical problems, combining disease diagnosis and syndrome differentiation and highlighting the characteristics and advantages of Tibetan medicine, with a view to promoting the standardization of Tibetan medicine diagnosis, treatment, and research on HAPC and improving the level of prevention and treatment.


Asunto(s)
Consenso , Medicina Tradicional Tibetana , Policitemia , Humanos , Policitemia/terapia , Policitemia/diagnóstico , Altitud , Medicamentos Herbarios Chinos/uso terapéutico , Medicamentos Herbarios Chinos/administración & dosificación , Mal de Altura/terapia , Mal de Altura/diagnóstico
6.
High Alt Med Biol ; 25(3): 247-250, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39136103

RESUMEN

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.


Asunto(s)
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/etiología
8.
Aerosp Med Hum Perform ; 95(9): 683-687, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-39169498

RESUMEN

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.


Asunto(s)
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 , Aeronaves
10.
Minerva Endocrinol (Torino) ; 49(2): 205-216, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39028210

RESUMEN

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.


Asunto(s)
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 , Hematócrito
11.
Ann Hematol ; 103(9): 3787-3793, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39078435

RESUMEN

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.


Asunto(s)
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 terapéutico
12.
Medicine (Baltimore) ; 103(29): e38815, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39029086

RESUMEN

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.


Asunto(s)
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 , Anciano
13.
Eur J Pharm Sci ; 201: 106857, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39032535

RESUMEN

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.


Asunto(s)
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 , Sulfonas
14.
J Med Case Rep ; 18(1): 313, 2024 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-38973008

RESUMEN

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.


Asunto(s)
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 Arteriovenosa
16.
Am J Obstet Gynecol ; 231(4): B16-B37, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39029545

RESUMEN

Thirty percent of spontaneously occurring twins are monozygotic, of which two-thirds are monochorionic, possessing a single placenta. A common placental mass with shared intertwin placental circulation is key to the development and management of complications unique to monochorionic gestations. In this Consult, we review general considerations and a contemporary approach to twin-twin transfusion syndrome and twin anemia-polycythemia sequence, providing management recommendations based on the available evidence. The following are the Society for Maternal-Fetal Medicine recommendations: (1) we recommend routine first-trimester sonographic determination of chorionicity and amnionicity (GRADE 1B); (2) we recommend that ultrasound surveillance for twin-twin transfusion syndrome begin at 16 weeks of gestation for all monochorionic-diamniotic twin pregnancies and continue at least every 2 weeks until delivery, with more frequent monitoring indicated with clinical concern (GRADE 1C); (3) we recommend that routine sonographic surveillance for twin-twin transfusion syndrome minimally include assessment of amniotic fluid volumes on both sides of the intertwin membrane and evaluation for the presence or absence of urine-filled fetal bladders, and ideally incorporate Doppler study of the umbilical arteries (GRADE 1C); (4) we recommend fetoscopic laser surgery as the standard treatment for stage II through stage IV twin-twin transfusion syndrome presenting between 16 and 26 weeks of gestation (GRADE 1A); (5) we recommend expectant management with at least weekly fetal surveillance for asymptomatic patients continuing pregnancies complicated by stage I twin-twin transfusion syndrome, and consideration for fetoscopic laser surgery for stage I twin-twin transfusion syndrome presentations between 16 and 26 weeks of gestation complicated by additional factors such as maternal polyhydramnios-associated symptomatology (GRADE 1B); (6) we recommend an individualized approach to laser surgery for early- and late-presenting twin-twin transfusion syndrome (GRADE 1C); (7) we recommend that all patients with twin-twin transfusion syndrome qualifying for laser therapy be referred to a fetal intervention center for further evaluation, consultation, and care (Best Practice); (8) after laser therapy, we suggest weekly surveillance for 6 weeks followed by resumption of every-other-week surveillance thereafter, unless concern exists for post-laser twin-twin transfusion syndrome, post-laser twin anemia-polycythemia sequence, or fetal growth restriction (GRADE 2C); (9) following the resolution of twin-twin transfusion syndrome after fetoscopic laser surgery, and without other indications for earlier delivery, we recommend delivery of dual-surviving monochorionic-diamniotic twins at 34 to 36 weeks of gestation (GRADE 1C); (10) in twin-twin transfusion syndrome pregnancies complicated by posttreatment single fetal demise, we recommend full-term delivery (39 weeks) of the surviving co-twin to avoid complications of prematurity unless indications for earlier delivery exist (GRADE 1C); (11) we recommend that fetoscopic laser surgery not influence the mode of delivery (Best Practice); (12) we recommend that prenatal diagnosis of twin anemia-polycythemia sequence minimally require either middle cerebral artery Doppler peak systolic velocity values >1.5 and <1.0 multiples of the median in donor and recipient twins, respectively, or an intertwin Δ middle cerebral artery peak systolic velocity >0.5 multiples of the median (GRADE 1C); (13) we recommend that providers consider incorporating middle cerebral artery Doppler peak systolic velocity determinations into all monochorionic twin ultrasound surveillance beginning at 16 weeks of gestation (GRADE 1C); and (14) consultation with a specialized fetal care center is recommended when twin anemia-polycythemia sequence progresses to a more advanced disease stage (stage ≥II) before 32 weeks of gestation or when concern arises for coexisting complications such as twin-twin transfusion syndrome (Best Practice).


Asunto(s)
Anemia , Transfusión Feto-Fetal , Fetoscopía , Policitemia , Ultrasonografía Prenatal , Humanos , Transfusión Feto-Fetal/terapia , Transfusión Feto-Fetal/diagnóstico por imagen , Embarazo , Femenino , Policitemia/terapia , Fetoscopía/métodos , Anemia/terapia , Anemia/etiología , Terapia por Láser , Líquido Amniótico , Corion/diagnóstico por imagen , Gemelos Monocigóticos , Arterias Umbilicales/diagnóstico por imagen , Embarazo Gemelar , Edad Gestacional , Coagulación con Láser/métodos
17.
Clin Lab ; 70(6)2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38868887

RESUMEN

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.


Asunto(s)
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/sangre
18.
Physiol Rep ; 12(11): e16035, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38844733

RESUMEN

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.


Asunto(s)
Hemocromatosis , Flebotomía , Policitemia , Humanos , Masculino , Flebotomía/métodos , Persona de Mediana Edad , Policitemia/terapia , Hemocromatosis/terapia , Frecuencia Cardíaca , Hemorragia/terapia , Hemorragia/etiología
19.
Exp Hematol ; 135: 104246, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38763471

RESUMEN

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.


Asunto(s)
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 , Femenino
20.
J Hum Hypertens ; 38(7): 555-560, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38802600

RESUMEN

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.


Asunto(s)
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 Joven
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