Síndrome de Eisenmenger secundario a comunicación interatrial tipo ostium secundum en mujer adulta / Eisenmenger Syndrome Associated with an ostium secundum Atrial Septal Defect in an Adult Woman

El síndrome de Eisenmenger es la forma más severa de presentación de hipertensión arterial pulmonar secundaria a defectos cardíacos congénitos no reparados, aunque su prevalencia es baja, continúa siendo un reto para los sistemas de salud de los países en vías de desarrollo por su complejidad en el manejo. Presentación del caso. Paciente femenina sin antecedentes médicos conocidos quien consulta por disnea relacionada a los esfuerzos y policitemia. Intervención terapéutica. Se realiza ecocardiograma transesofágico que arroja la presencia de defecto interatrial tipo ostium secundum e hipertensión arterial pulmonar severa, con cortocircuito de derecha a izquierda, se inicia oxigenoterapia y terapia farmacológica. Evolución clínica. Paciente permaneció ingresada presentando notable mejora a la disnea, se le dio de alta con referencia a la clínica de cardiopatías congénitas del adulto en Hospital Nacional Rosales.

Eisenmenger syndrome is the most severe form of pulmonary arterial hypertension secondary to an unrepaired congenital heart disease. Despite the low prevalence, it remains a challenge for the public health service of developing countries due to the complexity of the treatment. Case presentation. A female patient without known medical history, who consults with dyspnea on exertion and polycythemia. Treatment. A transesophageal echocardiogram was performed, showing an ostium secundum atrial septal defect and severe pulmonary arterial hypertension with a right-left shunt. Supplemental oxygen was administrated and pharmacological treatment was started. Outcome. The patient presented remarkable clinical improvement to dyspnea, she was discharged with medical reference to the Adult Congenital Heart Disease clinic at Rosales National Hospital.

JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms

Background: Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway. Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms. Methods: The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia. Results: The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms. Conclusion: Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

Antecedentes: Entre las neoplasias mieloproliferativas crónicas no asociadas con mutaciones BCR-ABL se encuentran la policitemia vera, la mielofibrosis primaria y la trombocitemia esencial. Estas enfermedades están causadas por mutaciones en genes, como los genes JAK2, MPL y CALR, que participan en la regulación de la vía de señalización JAK-STAT. Objetivo: Establecer las frecuencias de mutaciones en los genes JAK2, MPL y CALR en un grupo de pacientes colombianos con diagnóstico clínico negativo de NMP BCR-ABL. Metodos: Se analizaron las mutaciones y deleciones o inserciones JAK2 V617F y MPL W515K en el exón 9 del gen CALR en 52 pacientes colombianos con policitemia vera, mielofibrosis primaria y trombocitemia esencial. Resultados: La mutación JAK2V617F la portaban el 51.9% de los pacientes, la mutación CALR el 23.0% y la mutación MPL el 3.8%; El 23.0% fueron triple negativos para las mutaciones analizadas. En estas neoplasias se identificaron seis tipos de mutación en CALR, uno de los cuales no ha sido reportado previamente. Además, un paciente presentó una doble mutación tanto en el gen CALR como en el JAK2. En cuanto a los resultados hematológicos para las mutaciones, se encontraron diferencias significativas en el nivel de hemoglobina, el nivel de hematocrito y el recuento de plaquetas entre las tres neoplasias. Conclusiones: Así, este estudio demuestra la importancia de la caracterización molecular de las mutaciones JAK2, CALR y MPL en pacientes colombianos (cuyo contexto genético aún no está claro en las neoplasias antes mencionadas) para lograr un diagnóstico certero, un buen pronóstico, un manejo adecuado y una mejoría del paciente. supervivencia.

AL Amyloidosis with Polycythemia, Leucocytosis and Thrombocytosis : A Case Report

A young lady presented to us with clinical and biochemical evidence of Nephrotic Syndrome. Her laboratory investigations also revealed Erythrocytosis, Leucocytosis and Thrombocytosis. A renal biopsy revealed a diagnosis of Amyloidosis which was further characterized as AL amyloidosis with further investigations (kappa chain monoclonal gammopathy). She was started with appropriate therapy and she showed significant decline in her monoclonal Proteins on follow up. Her Erythrocytosis, Leucocytosis and Thrombocytosis also normalized with the decline in the levels of monoclonal light chains. We postulate a link between the monoclonal protein associated growth factors and inflammatory markers which were responsible for this unique association between AL Amyloidosis and tri-lineage hematopoietic cell proliferation.

Oclusión intestinal por policitemia vera en una anciana / Intestinal occlusion due to polycythemia vera in an old woman

Se describe el caso clínico de una paciente de 67 años de edad con varias comorbilidades, entre ellas la policitemia vera, quien acudió al Cuerpo de Guardia del Hospital Clinicoquirúrgico Universitario Dr. Ambrosio Grillo Portuondo de Santiago de Cuba por presentar síntomas y signos de un síndrome de abdomen agudo oclusivo. Se indicó intervención quirúrgica de urgencia, que permitió confirmar el diagnóstico presuntivo de afección vascular mesentérica de tipo trombótica. La inmediatez del tratamiento quirúrgico, la reversibilidad del daño vascular sin necesidad de procedimiento de resección intestinal y la administración efectiva de anticoagulantes permitieron una evolución favorable y sin complicaciones.

The case report of a 67 years patient with several comorbidities is described, among them polycythemia vera, who went to the emergency room of Ambrosio Grillo Portuondo University Clinical Surgical Hospital in Santiago de Cuba due to symptoms and signs of a syndrome of occlusive acute abdomen. An emergency surgical intervention was indicated, that confirmed the presumptive diagnosis of mesenteric vascular thrombosis. The immediacy of the surgical treatment, the reversibility of the vascular damage without necessity of intestinal resection procedure and the effective use of anticoagulants allowed a favorable clinical course without complications.

Efficacy and safety of peginterferon-α2b for treatment of myeloproliterative neoplasms / 南方医科大学学报

OBJECTIVE@#To evaluate the clinical efficacy and adverse reactions of peginterferon-α2b for treatment of chronic myeloproliferative neoplasms (MPN).@*METHODS@#We retrospectively analyzed the data of 107 patients with MPN, including 95 with essential thrombocythemia (ET) and 12 with polycythemia vera (PV), who all received peginterferon-α2b treatment for at least 12 months. The clnical and follow-up data of the patients were analyzed to evaluate the efficacy and adverse reactions of the treatment.@*RESULTS@#After receiving peginterferon- α2b treatment, both ET and PV patients achieved high hematological remission rates, and the total remission rates did not differ significantly between the two groups (86% vs 78%, P>0.05). In the overall patients, the spleen index decreased by 13.5% (95%CI: 8.5%-18.5%) after the treatment. The patients with hematological remission showed a significantly greater reduction of the total symptom score than those without hematological remission (P < 0.01). The median percentage of JAK2V617F allele load of PV patients decreased from 67.23% (49.6%-84.86%) at baseline to 19.7% (0.57%-74.6%) after the treatment, and that of JAK2V617F-positive ET patients decreased from 48.97% (0.45%-74.24%) at baseline to 22.1% (0.33%-65.42%) after the treatment. Mild adverse reactions (grade 1-2) were observed in both ET and PV groups without significant differences between them. The overall incidence of thrombotic events during the treatment was 2.8% in these patients, and no serious adverse reactions were observed.@*CONCLUSION@#For patients with chronic myelodysplasia, peginterferon-α2b treatment can achieve a high peripheral blood cell remission rate and maintain a long-term stable state with good effect in relieving symptoms such as splenomegaly. Peginterferon- α2b treatment caused only mild adverse reactions, which can be tolerated by most of the patients.

Erythrocytosis after hematopoietic stem cell transplantation: report of 3 cases and literature review / 中华内科杂志

This is a report of three cases of three male patients. One of the patients had myelodysplastic syndrome, and two had aplastic anemia; their ages were 28, 32, and 21 years old, respectively. Two patients underwent sibling allogeneic hematopoietic stem cell transplantation, and one underwent haploidentical hematopoietic stem cell transplantation. All the patients showed elevated hemoglobin and hematocrit at 6, 16, and 9 months after transplantation, with normal white blood cells and platelets and no splenomegaly. All causes of secondary polycythemia were ruled out. Bone marrow morphology showed no erythroid hyperplasia. The PCR result for BCR-ABL (P210, P230, P190, and variants) was negative, and there were no mutations at the amino acid site 617 of JAK2, exon 12 of JAK2, exon 9 of CALR, and amino acid site 515 of MPL. All three patients had hypertension. One patient was treated with amlodipine, and the other two patients were treated with angiotensin receptor blockers. The durations of erythrocytosis for these three patients were 6 years and 3 months, 4 years and 7 months, and 5 years and 3 months, respectively through December 2022. There was no tendency for spontaneous remission. Erythrocytosis after hematopoietic stem cell transplantation is a rare complication. Previous reports in the literature suggest that the mechanism of post-transplant erythrocytosis in recipients of allogeneic hematopoietic stem cell transplantation may be different from that of recipients of other transplants.

Policitemia en pacientes con enfermedad renal crónica en hemodiálisis / Polycythemia in patients with chronic kidney disease in hemodialysis

RESUMEN Introducción: Los pacientes con enfermedad renal crónica cursan con anemia, la cual es menos frecuente en ciudades por encima de los 1000 metros de altitud sobre el nivel del mar. Objetivos: Determinar las características clínicas y de laboratorio de los pacientes en hemodiálisis, a gran altitud. Métodos: Estudio descriptivo, transversal y correlacional en 70 pacientes de un centro de diálisis (3 827 metros sobre el nivel del mar). Se dividió los pacientes según nivel de hemoglobina: grupo 1 (< 10 g/dl), grupo 2 (10 - 12 g/dl), grupo 3 (12 - 18 g/dl) y grupo 4 (≥ 18 g/dl). Se investigó variables epidemiológicas, clínicas y de laboratorio. Se calculó frecuencias absolutas y relativas, promedios y desviación estándar y se aplicó análisis descriptivo, test de ji cuadrado y ANOVA. Resultados: Se encontró predominio del sexo masculino (67 %) y una edad media de 60,7 ± 14,1 años. El 45 % de los pacientes fueron hipertensos, con diferencia significativa (p< 0,05) entre el grupo 1 y 2. La hemoglobina media fue de 12,99 ± 2,6 g/dl y se encontró que el 5,7 % de los estudiados presentaron hemoglobina ≥ 18 g/dl. Se observó una relación directa entre hemoglobina y el fósforo, aunque de baja intensidad (r< 0,300) y significativa (p< 0,05); es decir, existe una tendencia a la hiperfosfatemia en los pacientes con policitemia. Conclusiones: Más del 60 % de los pacientes con enfermedad renal crónica en hemodiálisis que viven a gran altitud, presentan cifras elevadas de hemoglobina, por encima de los niveles recomendados para esta población. Además, se estableció una relación entre policitemia y mayor edad, nivel de calcio, fósforo, albúmina y Kt/V y menor nivel de paratohormona.

ABSTRACT Introduction: Patients with chronic kidney disease have anemia, which is less frequent in cities above 1000 meters above sea level. Objectives: To determine the clinical and laboratory characteristics of patients on hemodialysis at high altitude. Methods: Descriptive, cross-sectional and correlational study in 70 patients from a dialysis center (3827 meters above sea level). Patients were divided according to hemoglobin level: Group 1 (< 10 g/dl), Group 2 (10 - 12 g/dl), Group 3 (12 - 18 g/dl) and Group 4 (≥ 18 g/dl). Epidemiological, clinical and laboratory variables were investigated. Absolute and relative frequencies, averages and standard deviation were calculated and descriptive analysis, chi-square test and ANOVA were applied. Results: We observed a predominance of men (67 %) and a mean age of 60.7 ± 14.1 years. 45 % of the patients were hypertensive, with a significant difference (p< 0,05) between group 1 and 2. The mean hemoglobin was 12,99 ± 2,6 g/dl, and we found that 5.7 % of the evaluated had hemoglobin ≥ 18 g/dL. A direct relationship between hemoglobin and phosphorus was observed, although of low intensity (r< 0,300) and significant (p< 0,05); that is, there is a tendency to hyperphosphatemia in patients with polycythemia. Conclusions: More than 60 % of patients with chronic kidney disease on hemodialysis who live at high altitude have high hemoglobin levels, above the recommended levels for this population. Furthermore, a relationship was established between polycythemia and older age, calcium, phosphorus, albumin and Kt/V levels and lower parathyroid hormone levels.

Clinical and laboratory features compared between JAK2 exon12 and JAK2 V617F mutated polycythemia vera / 中华血液学杂志

Objective: To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) . Method: We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation. Results: 543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n=10, 37.0%) , deletion accompanied insertion (n=10, 37.0%) , and missense mutations (n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10(12)/L versus 7.14 (4.11-10.64) ×10(12)/L, P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) , P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10(9)/L versus 12.91 (3.24-38.3) ×10(9)/L, P<0.001], platelet counts [313 (83-1433) ×10(9)/L versus 470 (61-2169) ×10(9)/L, P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L, P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (P=0.422) and thrombosis-free survival (P=0.900) . Conclusions: Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.

Analysis of the relationship between high altitude polycythemia and peptic ulcer bleeding / 北京大学学报(医学版)

OBJECTIVE@#To explore the relationship between high altitude polycythemia (HAPC) and peptic ulcer bleeding, in order to provide the evidence for the clinical diagnosis and treatment of peptic ulcer disease in Tibet of China.@*METHODS@#A retrospective case-control study was conducted. Patients who hospitalized in the Department of Gastroenterology with the diagnosis of peptic ulcer bleeding from January 1, 2015 to April 30, 2021 in Tibet Autonomous Region People's Hospital were enrolled in the case group, and patients who hospitalized in the Department of Urology without tumor and without the history of peptic ulcer and gastrointestinal bleeding during the same period were selected as the control group. In the study, 1 ∶ 1 case matching was conducted between the two groups according to the gender, age (±2 years), ethnic group (Tibetan, Han), and the residence altitude level (grouped by < 4 000 m or ≥4 000 m), and 393 cases were included in the case group and the control group respectively. All the patients had lived in Tibet with the altitude >2 500 m for more than 1 year, and with age ≥ 18 years. The risk factors of peptic ulcer bleeding (place of residence, smoking, alcohol, the use of NSAIDs/anticoagulants, and combined with chronic diseases, such as HAPC, hypertension, diabetes mellitus, heart disease, hyperlipidemia, cerebrovascular disease, chronic lung disease, joint disease) were analyzed and compared between the two groups.@*RESULTS@#There were 28 (7.1%) patients with HAPC in the case group, and 5 (1.3%) in the control group. The incidence of HAPC in the case group was significantly higher than those in the control group, P < 0.001, and the OR value was 5.953. Multivariate Logistic regression analysis showed that HAPC (OR=5.270, 95%CI: 1.806-15.380), living in cities and towns (OR=2.369, 95%CI: 1.559-3.602), alcohol (OR=3.238, 95%CI: 1.973-5.317) and the use of NSAIDs/anticoagulants (OR=20.584, 95%CI: 2.639-160.545) were the independent risk factors for peptic ulcer bleeding in Tibet. After adjusting for the possible confounding factors, such as living in cities and towns, alcohol, and the use of NSAIDs/anticoagulants, HAPC was associated with an increased risk of peptic ulcer bleeding in Tibet, and the OR value was 5.270.@*CONCLUSION@#HAPC was associated with a significantly increased risk of peptic ulcer bleeding in Tibet. Patients with HAPC and peptic ulcer should be diagnosed and treated actively, in order to avoid gastrointestinal bleeding and other serious complications.

How phosphorylation of RBCs band 3 protein affects storage quality of suspended red blood cells prepared from Tibetan high Hb population / 中国输血杂志

【Objective】 To investigate the quality changes of suspended red blood cells (SRBCs) prepared from the blood of Tibetan high Hb population, and explore the availability and safety of blood collected from Tibetan high Hb population. 【Methods】 The voluntary blood donors were grouped according to the Hb concentration at the initial screening: female blood donors from Tibet Autonomous Region (>3 500 m) with Hb≥190 g/L and male blood donors with Hb≥210 g/L were classified as plateau high hemoglobin group. A total of 13 male blood donors from Tibet Autonomous Region were recruited. And the female blood donors (n=13) with Hb(115~165) g/L and male blood donors (n=12) with Hb(120~185) g/L from Chengdu were classified as control group. Whole blood of 200 mL specification was centrifuged to remove the plasma, and MAP additive solution was added to prepare SRBCs, then SRBCs were divided into four aliquots (50 mL/bag and stored at 4℃. Parameters as blood routine, free Hb and hemolysis rate were measured aseptically at day 1, 14, 21, 35 of storage. And 10 mL SRBCs was used to extract membrane proteins for tyrosine phosphorylation detection of band 3 protein. 【Results】 The RBCs counts(×1012/L), hematocrit(%) and hemoglobin(g/L) of Tibetan high Hb group and control group were 6.76±0.95 vs 4.65±0.52, 63.3±6.8 vs 43.1±4.4 and 214.4±19.8 vs 143.2±16.9 (P<0.01). The erythrocyte deformability test on the day 1, 14, 21, 35 of storage showed that the deformability of SRBCs prepared from Tibetan high Hb group was significantly lower than that of the control group under shear stress of 3, 5.33, 9.49, 16.87, and 30 Pa, while the hemolysis rate of SRBCs prepared from the Tibetan high Hb group and the control group on the day 1, 14, 21, 35 were 0.050 2±0.040 2 vs 0.022 2±0.011 1, 0.055 4±0.043 vs 0.032 1±0.028 7, 0.061 2±0.025 9 vs 0.034 3±0.031 7 and 0.069 6±0.032 0 vs 0.044 0±0.033 3 (P<0.05). Western blotting showed that the cytoplasmic N-terminal Y21 of band 3 protein of SRBCs prepared from Tibetan high Hb group was highly phosphorylated. 【Conclusion】 The deformability of SRBCs prepared from the Tibetan high Hb group was significantly lower while the hemolysis rate of SRBCs was higher than that of the control group. The hemolysis rate of the SRBCs at the end of storage prepared from the Tibetan high Hb group meets the requirements of the national standard GB18469-2012(<0.8%). The increase of hemolysis rate of SRBCs prepared from the Tibetan high Hb group was closely related to the phosphorylation of band 3 protein.

Análisis causal integrado en la radiosinoviortesis y el tratamiento mielosupresor de la policitemia vera / Integrated causal analysis in radiosynoviorthesis and the myelosupressor treatment of polycythemia vera

Introducción: Con la matriz de riesgo se identifican las medidas de control relevantes. El análisis de modos y efectos de fallo posterga definir la efectividad de las medidas correctivas. El uso de uno solo de estos métodos limita el alcance al evaluar los riesgos y la toma de decisiones. Objetivos: Determinar la contribución individual de las causas básicas de fallo en el riesgo radiológico de la radiosinoviortesis y el tratamiento mielosupresor de la policitemia vera, a partir del modelo de la matriz y los reportes. Métodos: Se adaptó el análisis de la gestión de la calidad en radioterapia a las prácticas en estudio y la selección individual de las causas básicas más contribuyentes al riesgo radiológico. La base internacional de incidentes aportó las causas que completaron el listado de las derivadas de la aplicación del principio de Pareto. Resultados: Los subprocesos más contribuyentes al riesgo fueron, por orden de importancia, la administración del radiofármaco, su preparación y la prescripción clínica. Para estos se identificaron las etapas, modos de fallo y sus causas más importantes. Existieron causas que contribuyeron a varios modos de fallo. El incumplimiento de procedimientos, protocolos o prácticas, la falta de entrenamiento del personal y la fatiga del personal son las causas de los riesgos identificados. Conclusiones: Se caracterizó la efectividad de las medidas correctivas de las causas más contribuyentes, las que se adicionan a las derivadas de la matriz, en el plan de mejora en la radiosinoviortesis y el tratamiento mielosupresor de la policitemia vera en Cuba(AU)

Introduction: The risk matrix identifies the relevant control measures. Failure modes and effects analysis postpones defining the effectiveness of corrective measures. Using just one of these methods limits the scope when assessing risks and making decisions. Objectives: To determine the individual contribution of the basic causes of failure in the radiological risk of radiosynoviorthesis and the myelosupressor treatment of polycythemia vera, based on the matrix model and the reports. Methods: The analysis of quality management in radiotherapy was adapted to the practices under study and the individual selection of the basic causes most contributing to radiological risk. The international incident base provided the causes that completed the list of those derived from the application of the Pareto principle. Results: The sub-processes that contributed the most to risk were, in order of importance, the administration of the radiopharmaceutical, its preparation and the clinical prescription. For these, the most important, stages, failure modes and their causes were identified. There were causes that contributed to various failure modes. Non-compliance with procedures, protocols or practices, lack of staff training and staff fatigue are the causes of the identified risks. Conclusions: The effectiveness of the corrective measures of the most contributing causes, which are added to those derived from the matrix, was characterized in the improvement plan in radiosynoviorthesis and myelosupressor treatment of polycythemia vera in Cuba(AU)

Características clínicas y epidemiológicas de las neoplasias mieloproliferativas Philadelphia negativas en el sistema público de salud de Chile

Background: Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF). Aim: To assess the epidemiological, clinical and diagnostic characteristics of Ph-MPN in Chile. Material and Methods: Retrospective review of medical records of all patients referred as MPN from 2012 to 2017. Patients with (9;21) translocation were excluded. Results: Data of 462 cases with a median age of 69 years from 10 public hospitals was reviewed. ET was the most frequently Ph-MNP found. The incidence of Ph-MPN was 1.5 x 100.000 cases. The JAK2 V617F mutation study was performed in 96% of patients and only 30% had a bone marrow biopsy. Thrombotic events were observed in 29% of patients. Bleeding events were observed in 7%. Five-year overall survival was 87%. Conclusions: ET is the most frequent Ph-MPN. The mean incidence was lower than reported in the literature, in part because of a sub diagnosis.

Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient / Eritrocitosis familiar 2 y enfermedad de von Hippel-Lindau en el mismo paciente

Abstract Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. Conclusions: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.

Resumen Introducción: Los pacientes con eritrocitosis familiar tipo 2 no muestran un riesgo incrementado de desarrollar tumores asociados con la enfermedad de von Hippel-Lindau, a pesar de que ambas afecciones están causadas por variantes patogénicas en el gen VHL. Caso clínico: Se presenta el caso de un paciente heterocigoto compuesto con enfermedad de von Hippel-Lindau y eritrocitosis familiar tipo 2. Una de las variantes patogénicas en el paciente, VHL c.416C>G (p.Ser139Cys), no ha sido previamente reportada. Este es el segundo reporte de caso en que la enfermedad de von Hippel-Lindau y la eritrocitosis familiar tipo 2 coexisten en el mismo individuo. Conclusiones: A pesar de la baja frecuencia de la eritrocitosis familiar tipo 2 en pacientes con enfermedad de von Hippel-Lindau, la posibilidad del diagnóstico debe considerarse con el fin de evitar estudios invasivos innecesarios para explicar la presencia de poliglobulia en estos pacientes y para garantizar un adecuado seguimiento y una correcta vigilancia de ambas enfermedades.

Prevalencia de policitemia neonatal y factores asociados en recién nacidos / Neonatal polycythemia prevalence and associated factors in newborns

Introducción: La policitemia afecta del 1 a 5% de los recién nacidos, se asocia a complica-ciones por afectación orgánica y sistémica en el neonato que puede ser prevenible. El ob-jetivo de la presente investigación fue determinar la prevalencia de Policitemia neonatal y sus factores asociados en recién nacidos en un servicio de maternidad Público de la ciudad de Cuenca-Ecuador. Métodos: Se realizó un estudio transversal, el universo estuvo conformado por todos los recién nacidos en el servicio de maternidad del Hospital ¨Vicente Corral Moscoso¨. La muestra fue probabilística de 470 neonatos y sus madres. Para identificar asociación se realizó mediante X2 y para medir intensidad de asociación se utilizó OR (IC 95%) y valor de P < 0.05. Resultados: Ingresaron al estudio en forma aleatoria 470 casos. Se obtuvo una prevalencia del 12.8%. La residencia materna del 93% fue por sobre los 2000 metros sobre el nivel del mar. Los factores asociados fueron: bajo peso al nacer (OR 3.8; IC95%: 1.9 ­ 7.5) P < 0.001), patología materna incluida la diabetes (OR 2.6, IC95%: 1.3 ­ 5.2) P = 0.013), toxemia del em-barazo (OR 2.3; IC95%: 0.7 ­ 7.6) P = 0.134 y asociación negativa con prematuridad (OR 0.3; IC 95%: 0.07 ­ 1.2) P = 0.099. Conclusiones: la prevalencia de policitemia neonatal es alta y se asocia significativamente con bajo peso al nacer, patología materna.

Introduction: Polycythemia affects 1 to 5% of newborns, it is associated with complications due to organic and systemic involvement in the newborn that can be preventable. The objective of this research was to determine the prevalence of neonatal polycythemia and its associated factors in newborns in a public maternity service in the city of Cuenca-Ecuador. Methods: A cross-sectional study was carried out, the universe was made up of all new-borns in the maternity service of the ¨Vicente Corral Moscoso¨ Hospital. The sample was probabilistic of 470 neonates and their mothers. To identify association, it was performed using X2 and to measure association intensity, OR (95% CI) and P value <0.05 were used. Results: 470 cases were randomly entered into the study. A prevalence of 12.8% was ob-tained. The 93% maternal residence was above 2000 meters above sea level. The associat-ed factors were: low birth weight (OR 3.8; 95% CI: 1.9 - 7.5) P <0.001), maternal pathology including diabetes (OR 2.6, 95% CI: 1.3 - 5.2) P = 0.013), pregnancy toxemia (OR 2.3; 95% CI: 0.7 - 7.6) P = 0.134 and negative association with prematurity (OR 0.3; 95% CI: 0.07 - 1.2) P = 0.099. Conclusions: the prevalence of neonatal polycythemia is high and is significantly associated with low birth weight, maternal pathology.

Eritrocitosis secundaria a cardiopatía congénita como causa de pseudohipercalemia / Secundary erithrocitosis from congenital heart disease as a cause of pseudohiperkalemia

Resumen El potasio es, sin lugar a duda, uno de los componentes más importantes del balance hidroelectrolítico, además de ser uno de los exámenes de laboratorio más solicitados en el ámbito clínico. La hipercalemia se define por un valor sérico mayor a 5.5 mEq/L y su principal diagnóstico diferencial es la pseudohipercalemia o hipercalemia espuria. Esta se define como elevación del potasio solo en componente sérico y no plasmático con una diferencia mínima de 0.5 mEq/L. Entre las causas de pseudohipercalemia se encuentran factores mecánicos, químicos, contaminantes, temperatura y tiempo de procesamiento de la muestra. Se reporta el caso de un paciente masculino de 22 años de edad, con antecedentes de cardiopatía cianosante, que cursa con elevación espuria de potasio en suero, con aumento aislado severo del hematocrito y trombocitopenia concomitante, que luego mostraría valores normales en plasma.

Abstract Potassium is, without a doubt, one of the most important components of hydroelectrolitic balance, as well as being one of the most requested laboratory exams in the clinical setting. Hyperkalemia is defined as serum value above 5.5 mEq/L, and its main differential diagnosis is pseudohyperkalemia or spurious hyperkalemia. This conditioned is defined as an elevation of potassium levels exclusively in serum and not in plasma, with a minimal difference of 0.5 mEq/L between these measurements. Some of the causes of pseudohyperkalemia include mechanical factors, chemicals, contaminants, temperature and the time of sample processing. It is reported the case of a 22-year-old male with history of cyanotic heart disease that presented with a spurious elevation of serum potassium, with a severe increment in hematocrit and concomitant thrombocytopenia, that would later show normal levels in plasma.

Polycythemia: a mystery solved by history

Testosterone is responsible for increased muscle mass. Leaner body mass helps control weight and increases energy. High levels of testosterone help build muscles and also stimulate growth in strength. Androgenic-anabolic steroids (AAS) are drugs that are structurally related to the cyclic steroid rings system and have similar effects to testosterone in the body. Athletes who abuse steroids do so for muscle growth and quick recovery. Testosterone - whether it's injected, applied via a patch or cream, or taken orally - allows athletes to rapidly increase muscle mass beyond their usual capacity, and also reduces their recovery time which allows them to train continuously with little need to rest their bodies in between workouts. Physiologically, erythrocytosis is defined by an erythrocyte mass that exceeds 125% of that predicted for sex and body mass. Much of the concern with the use of testosterone involves increase in blood viscosity, resulting from increased red blood cell mass causing a potential increased risk for venous thromboembolism (VTE), myocardial infarction (MI), and cerebrovascular accidents (CVA). We report a case of secondary polycythemia related to testosterone therapy.

Alteraciones cardiovasculares en pacientes con eritrocitosis excesiva en residentes a 5 200 metros sobre el nivel del mar / Cardiovascular alterations in patients with excessive erythrocytosis in residents at 5,200 meters above the sea level

RESUMEN Objetivo: describir la función cardiovascular y determinar las alteraciones cardiacas en pacientes con y sin eritrocitosis excesiva (EE). Materiales y métodos: estudio de tipo prospectivo, transversal y analítico. La muestra fue de 61 pacientes residentes del Centro Poblado La Rinconada, localizado en Puno - Perú, ubicado a 5 200 m.s.n.m. Se utilizó una ficha de recolección de datos, se aplicó el score de mal de montaña crónico de Qinghai y un cardiólogo experimentado realizo las ecocardiografías. Resultados: el promedio de edad fue de 44 ± 7 años y el tiempo de residencia fue de 16 ± 9,8 años. Del total de pacientes, el 80,3% presentó mal de montaña crónico; de estos, el 68,9% fue de grado leve, 6,6% de grado moderado y el 4,9% de grado severo. Dentro de los hallazgos ecocardiográficos se encontraron: dilatación de cavidades cardiacas (16,4%), leve alteración del llenado del ventrículo derecho (3,27%), válvula aórtica bicúspide (3,27%), dificultad del llenado del ventrículo izquierdo (8,2%), leve alteración en la relajación y llenado del ventrículo izquierdo (1,6%), insuficiencia aórtica leve (1,6%) e hipertensión pulmonar (1,6%). El 83,6% presentaba hemoglobina ≥ 21 mg/dl. Conclusiones: el grupo con EE presentó más alteraciones cardiacas, la alteración cardiaca más frecuente fue la dilatación de cavidades cardiacas derechas.

ABSTRACT Objective: to describe cardiovascular function and determine cardiac disturbances in patients with and without excessive erythrocyteosis (EE). Materials and methods: a prospective, transversal and analytical type study. The sample was of 61 resident patients of the Centro Poblado La Rinconada, located in Puno - Peru, located at 5,200 meters above the sea level. A data collection sheet was used, Qinghai's chronic mountain sickness score was applied, and an experienced cardiologist performed echocardiographies. Results: the average age was 44 ± 7 years and the residence time was 16 ± 9.8 years. Of the total number of patients, 80.3% had chronic mountain sickness; of these, 68.9% were mild grade, 6.6% moderate grade and 4.9% severe grade. Among the echocardiographic findings were found: dilation of cardiac cavities (16.4%), slight alteration of the filling of the right ventricle (3.27%), bicuspid aortic valve (3.27%), difficulty filling the left ventricle (8.2%), slight alteration in relaxation and filling of the left ventricle (1.6%), mild aortic insufficiency (1.6%) pulmonary hypertension (1.6%). 83.6% had hemoglobin ≥ 21 mg/dL. Conclusions: the group with EE had more cardiac disturbances, the most common cardiac disturbance was the dilation of right heart chambers.

Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms

ABSTRACT Background: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a special focus on the correct diagnosis based on the recent review of the WHO criteria for the diagnosis of myeloid neoplasms. Methods: This retrospective study analyzed data from medical records of patients with classical BCR-ABL1-negative MPNs diagnosed from January 1997 to October 2017 and followed at the University Hospital of Ribeirão Preto Medical School. Results: A total of 162 patients were assessed, 61 with PV, 50 with ET, and 51 with PMF. The mutational status analysis revealed that 113 (69.3%) harbored the JAK2V617F mutation, 23 (14.1%), the CALR mutation, and 12 (7.4%) had a triple-negative status. None of the patients were found to have mutations on the thrombopoietin receptor gene (MPL), including some ET and PMF patients who were not tested. Among the PV patients, 57 (93.5%) were positive for the JAK2V617F mutation, one (1.6%) presented an in-frame deletion JAK2 exon 12 mutation and one (1.6%) presented a missense JAK2 exon 9 mutation, not previously described. The overall survival was lower in the triple-negative patients with PMF, when compared to the JAK2V617F or CALR-mutated (p= 0.002). Conclusion: The frequency of somatic mutations and survival in our cohort, stratified according to the respective disease, was consistent with the literature data, despite some limitations. Further prospective epidemiological studies of MPN cohorts are encouraged in developing countries.

Causas de rechazo de donantes de sangre de un hospital del sur peruano / Reasons for blood donor deferral in a Southern Peruvian hospital

Introducción: La donación de sangre salva vidas, por lo que la seguridad de la sangre es lo más importante de todo el proceso. La localización demográfica conduce a tener causas específicas de diferimiento. Vivir en zonas altoandinas produciría cambios adaptativos hematológicos. Es por esta razón que resulta importante conocer las causas de rechazo y así poder reorientar los programas de promoción de donación de sangre. Objetivo: Determinar las causas de rechazo de donantes de sangre de un hospital del sur peruano a 3825 m. s. n. m. Métodos: Se realizó un estudio transversal, de corte retrospectivo, sobre las causas de rechazo de posibles donantes de sangre del Hospital III EsSalud, Juliaca. Se analizaron los registros de predonantes que fueron rechazados, desde enero del 2014 a diciembre del 2018. Los datos se analizaron en el programa STATA v.14. Resultados: De los posibles predonantes seleccionados (4057), 1699 (41,87 por ciento) fueron mujeres y 2358 (58,13 por ciento) fueron varones. Fueron diferidos 1458 (41,87 por ciento), los varones tuvieron la tasa de rechazo más alta 882 (60,49 por ciento) en comparación con las mujeres 576 (39,51 por ciento). La polieritrocitemia fue la causa más frecuente de rechazo 669 (45,8 por ciento). Conclusiones: La tasa de rechazo fue moderada (35,93 por ciento) y la principal causa, fue el hematocrito alto (68,4 por ciento), seguido por el bajo (6,8 por ciento).

Introduction: Blood donation saves lives. Blood safety is thus the most important factor throughout the whole process. Demographic location accounts for specific reasons for deferral. Living in high Andean areas causes adaptive hematological changes. Therefore, it is important to be aware of the reasons for deferral with a view to reorienting blood donation promotion programs. Objective: Determine the reasons for blood donor deferral in a Southern Peruvian hospital 3 935 m amsl. Methods: A retrospective cross-sectional study was conducted of the reasons for deferral of potential blood donors in EsSalud III Hospital in Juliaca. An analysis was performed of the records of pre-donors deferred from January 2014 to December 2018. The data were processed with the software STATA version 14. Results: Of the potential pre-donors selected (4 057), 1 699 (41.87 percent) were women and 2 358 (58.13 percent) were men. A total 1 458 (41.87 percent) were deferred. Men had the highest deferral rate with 882 (60.49 percent), whereas the rate for women was 576 (39.51 percent). Polyerythrocythemia was the most common reason for deferral with 669 (45.8 percent). Conclusions: The deferral rate was moderate (35.93 percent) and the main reason was high hematocrit (68.4 percent), followed by low hematocrit (6.8 percent)(AU)

Burden of malnutrition and anemia among children with congenital heart disease

Background: Congenital heart disease (CHD) is the most common birth defect and in India, the prevalence is 2.5 to 5/1000 live births. Malnutrition and anemia are common co-morbidities, that determine the outcome in CHD. This study was undertaken to assess the extent of malnutrition and anemia among 1-12-year-old children with CHD.Methods: A total 80 children with CHD, admitted for intervention under the Rashtriya Bal Swasthya Karyakram (RBSK) scheme were enrolled.  Nutritional status was assessed using standardized anthropometric measurements. Anemia was estimated using hemoglobin, red cell indices, red cell distribution width and peripheral smear. IEC approval, informed consent and assent from participants were obtained prior to the study. Statistical analysis was performed using SPSS version 19.Results: 2/3rd children were >5-years-old. Acyanotic CHD was more common (81.3%) and 35% had ventricular septal defect. Among cyanotic CHD (18.7%), 13.7% had tetralogy of fallot. In CCHD, there was only one child with normal weight and height. In ACHD, 71% were underweight, 49%, had stunting and 82% had wasting. Anemia was diagnosed in nearly 1/3rd, and iron deficiency was the most common. Even though polycythemia was noted in those with CCHD, increased RDW and reduced red cell indices unmasked iron deficiency.Conclusions: Majority were >5-years-old, due to late referral for intervention. The burden of malnutrition and iron deficiency anemia, that modify the outcome, was very high, Hence, early identification, prompt referral and correction of co-morbidities are of utmost importance, as majority are likely to get surgical/non-surgical interventions under government sponsored schemes like RBSK in India.