The Dynamics of Histone Modifications during Mammalian Zygotic Genome Activation.

Mammalian fertilization initiates the reprogramming of oocytes and sperm, forming a totipotent zygote. During this intricate process, the zygotic genome undergoes a maternal-to-zygotic transition (MZT) and subsequent zygotic genome activation (ZGA), marking the initiation of transcriptional control and gene expression post-fertilization. Histone modifications are pivotal in shaping cellular identity and gene expression in many mammals. Recent advances in chromatin analysis have enabled detailed explorations of histone modifications during ZGA. This review delves into conserved and unique regulatory strategies, providing essential insights into the dynamic changes in histone modifications and their variants during ZGA in mammals. The objective is to explore recent advancements in leading mechanisms related to histone modifications governing this embryonic development phase in depth. These considerations will be useful for informing future therapeutic approaches that target epigenetic regulation in diverse biological contexts. It will also contribute to the extensive areas of evolutionary and developmental biology and possibly lay the foundation for future research and discussion on this seminal topic.

Effects of Ramadan Fasting on Extracorporeal Photopheresis Outcomes.

Although there are many studies on the impact of Ramadan fasting on health in the medical literature, the effects have not been explored in Muslim patients undergoing extracorporeal photopheresis (ECP). This report aimed to describe the potential effects of Ramadan fasting on ECP treatment outcomes. Patients undergoing ECP were prospectively evaluated before and during the month of Ramadan 1443 AH (2022 AD) at the Abu Dhabi Stem Cells Center (ADSCC), United Arab Emirates. The following ECP outcomes were assessed: treatment completion, adverse events reported, body mass index (BMI), and laboratory test results, including complete blood count (CBC), C-reactive protein (CRP), and other systemic immune-inflammatory biomarkers (SIIBs). No statistically significant differences were found in most of the variables analyzed in the three patients who underwent ECP before and during the holy month. Two non-fasting patients were not able to complete the Ramadan ECP schedule, and one fasting patient experienced a vascular access event during his first procedure in Ramadan. These findings suggest that fasting during Ramadan could add further risk factors and develop serious complications related to the ECP treatment. Therefore, we suggest that fasting should be avoided during photopheresis treatment, and we provided recommendations to achieve the best possible clinical outcomes.

Application of mass cytometry to characterize hematopoietic stem cells in apheresis products of patients with hematological malignancies.

INTRODUCTION: Hematopoietic stem cell transplantation (HSCT) is a widely used therapy, but its success largely depends on the number and quality of stem cells collected. Current evidence shows the complexity of the hematopoietic system, which implies that, in the quality assurance of the apheresis product, the hematopoietic stem cells are adequately characterized and quantified, in which mass cytometry (MC) can provide its advantages in high-dimensional analysis. OBJECTIVE: This research aimed to characterize and enumerate CD45dim/CD34+ stem cells using the MC in apheresis product yields from patients with chronic lymphoid malignant diseases undergoing autologous transplantation at the Abu Dhabi Stem Cells Center. METHODS: An analytical and cross-sectional study was performed on 31 apheresis products from 15 patients diagnosed with multiple myeloma (n = 9) and non-Hodgkin lymphomas (n = 6) eligible for HSCT. The MC was employed using the MaxPar Kit for stem cell immunophenotyping. The analysis was performed manually in the Kaluza and unsupervised by machine learning in Cytobank Premium. RESULTS: An excellent agreement was found between mass and flow cytometry for the relative and absolute counts of CD45dim/CD34+ cells (Bland-Altman bias: -0.029 and -64, respectively), seven subpopulations were phenotyped and no lineage bias was detected for any of the methods used in the pool of collected cells. A CD34+/CD38+/CD138+ population was seen in the analyses performed on four patients with multiple myeloma. CONCLUSIONS: The MC helps to characterize subpopulations of stem cells in apheresis products. It also allows cell quantification by double platform. Unsupervised analysis allows results completion and validation of the manual strategy. The proposed methodology can be extended to apheresis products for purposes other than HSCT.

"Original Antigenic Sin" in SARS-CoV-2 Vaccination Followed by Infection.

Although the "original antigenic sin" (OAS) effects have been predicted against new variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), only a few pieces of evidence are available regarding its impact on the safety and effectiveness of coronavirus disease 2019 (COVID-19) vaccines. This article aims to provide an immunological explanation for the delayed side effects of a SARS-CoV-2 vaccine during an episode of natural infection. We reported a case of a 39-year-old male healthcare worker who complained about pruritus and discomfort around the injection site of an inactivated SARS-CoV-2 vaccine administrated 18, 17, and 13 months earlier. Those symptoms resembled the side effects previously experienced with one of the booster doses, and a sole erythematous papule was also documented. The patient was diagnosed with COVID-19 one or two days after noticing these local signs and symptoms, and high serum titers of immunoglobulin M (IgM) and immunoglobulin E (IgE) were found five weeks after the onset, along with SARS-CoV-2-specific immunoglobulin G (IgG) antibodies. Therefore, the OAS might be a plausible phenomenon to consider in individuals immunized with inactivated vaccines and exposed secondarily to a wild virus with antigenic variations.

Refractory pemphigus vulgaris and high-intensity extracorporeal photopheresis: A case report.

A 41-year-old man with oral pemphigus vulgaris (PV) presented to our clinic with a history of no response to numerous immunosuppressant agents and was referred for extracorporeal photopheresis (ECP) therapy. Although the patient underwent a high-intensity ECP regimen for five months, which included two different photopheresis systems, his oral dysesthesia continued to interfere with oral intake, leading to continued weight loss and other adverse events. The intervention was associated with changes in several immune cell subpopulations without modifying the anti-epidermal antibody titers, aligned with his poor clinical outcome. To the best of the authors' knowledge, this is the first report to examine immunophenotyping of a PV patient who was refractory to previous immunosuppression and recalcitrant to high-intensity ECP therapy.

Wide Range Applications of Spirulina: From Earth to Space Missions.

Spirulina is the most studied cyanobacterium species for both pharmacological applications and the food industry. The aim of the present review is to summarize the potential benefits of the use of Spirulina for improving healthcare both in space and on Earth. Regarding the first field of application, Spirulina could represent a new technology for the sustainment of long-duration manned missions to planets beyond the Lower Earth Orbit (e.g., Mars); furthermore, it could help astronauts stay healthy while exposed to a variety of stress factors that can have negative consequences even after years. As far as the second field of application, Spirulina could have an active role in various aspects of medicine, such as metabolism, oncology, ophthalmology, central and peripheral nervous systems, and nephrology. The recent findings of the capacity of Spirulina to improve stem cells mobility and to increase immune response have opened new intriguing scenarios in oncological and infectious diseases, respectively.

Viability assessment of human peripheral blood-derived stem cells after three methods of nebulization.

BACKGROUND AND OBJECTIVES: Drug delivery by nebulization has become a crucial strategy for treating different respiratory and lung diseases. Emerging evidence implicates stem cell therapy as a promising tool in treating such conditions, not only by alleviating the related symptoms but by improving the prognosis. However, delivery of human peripheral blood-derived stem cells (hPBSCs) to the respiratory airways remains an innovative approach yet to be realized. This study is an analytic, translational, and in vitro research to assess the viability and morphological changes of identified cell populations in hPBSCs cocktail derived from COVID-19 patients. METHODS AND RESULTS: Peripheral blood (PB) samples were obtained from patients enrolled in the SENTAD-COVID Study (ClinicalTrials.gov Reference: NCT04473170). hPBSCs cocktails (n=15) were provided by the Cells Processing Laboratory of Abu Dhabi Stem Cells Center, and were nebulized by three different methods of nebulization: compressor (jet), ultrasonic, and mesh. Our results reported that nucleated CD45dim cell count was significantly lower after the three nebulization methods, but nucleated CD45- cells show a significant decrease only after mesh nebulization. Mesh-nebulized samples had a significant reduction in viability of both CD45dim and CD45- cells. CONCLUSIONS: This study provides evidence that stem cells derived from PB of COVID-19 patients can be nebulized without substantial loss of cell viability, cell count, and morphological changes using the compressor nebulization. Therefore, we recommend compressor nebulizers as the preferable procedure for hPBSCs delivery to the respiratory airways in further clinical settings.

Safety and efficacy of autologous non-hematopoietic enriched stem cell nebulization in COVID-19 patients: a randomized clinical trial, Abu Dhabi 2020.

BACKGROUND: The novel SARS-CoV-2 has caused the coronavirus disease 2019 (COVID-19) pandemic. Currently, with insufficient worldwide vaccination rates, identifying treatment solutions to reduce the impact of the virus is urgently needed. METHOD: An adaptive, multicentric, open-label, and randomized controlled phase I/II clinical trial entitled the "SENTAD-COVID Study" was conducted by the Abu Dhabi Stem Cells Center under exceptional conditional approval by the Emirates Institutional Review Board (IRB) for COVID-19 Research Committee from April 4th to July 31st, 2020, using an autologous peripheral blood non-hematopoietic enriched stem cell cocktail (PB-NHESC-C) administered by compressor (jet) nebulization as a complement to standard care therapy. The primary endpoints include safety and efficacy assessments, adverse events, the mortality rate within 28 days, and the time to clinical improvement as measured by a 2-point reduction on a seven-category ordinal scale or discharge from the hospital whichever occurred first. RESULTS: The study included a total of 139 randomized COVID-19 patients, with 69 in the experimental group and 70 in the control group (standard care). Overall survival was 94.20% for the cocktail-treated group vs. 90.27% for the control group. Adverse events were reported in 50 (72.46%) patients receiving PB-NHESC-C and 51 (72.85%) in the control group (p = 0.9590), with signs and symptoms commonly found in COVID-19. After the first 9 days of the intervention, 67.3% of cocktail-treated patients recovered and were released from hospitals compared to 53.1% (RR = 0.84; 95% CI, 0.56-1.28) in the control group. Improvement, i.e., at least a 2-point reduction in the severity scale, was more frequently observed in cocktail-treated patients (42.0%) than in controls (17.0%) (RR = 0.69; 95% CI, 0.56-0.88). CONCLUSIONS: Cocktail treatment improved clinical outcomes without increasing adverse events. Thus, the nebulization of PB-NHESC-C was safe and effective for treatment in most of these patients. TRIAL REGISTRATION: ClinicalTrials.gov. NCT04473170. It was retrospectively registered on July 16th, 2020.

Specificities and isotypes of erythrocytes autoantibodies in patients with warm autoimmune hemolytic anemia / Especificidades e isotipos de autoanticuerpos eritrocitarios en pacientes con anemia hemolítica autoinmune caliente

Introduction: Autoimmune hemolytic anemia is a rare disorder characterized by hemolysis mediated by autoantibodies directed against red blood cells. The demonstration of antibody specificity is a very difficult procedure since autoantibodies in general are nonspecific of antigens and react with all erythrocytes analyzed. Occasionally, specificity is observed against the Rh system antigens. Objective: To determinate the specificity of erythrocytes autoantibodies in DAT positive autoimmune hemolytic anemia by MAIEA technique. Methods: The specificity and isotype of erythrocyte autoantibodies were determined in the eluate of 109 blood samples from patients with warm autoimmune hemolytic anemia, by means of the MAIEA technique and the use of monoclonal antibodies that recognized 11 blood group systems and the protein CD47. Results: In 100 percent of cases autoantibodies against Rh system antigens were detected; in 24 cases we detected autoantibodies of IgA and IgM isotypes that recognized different antigens that were recognized by IgG isotype autoantibodies. For idiopathic and secondary warm autoimmune hemolytic anemias, predominance was observed against three or more specificities. IgG was detected in 99.09 percent of the eluates, IgA in 35.77 percent and IgM in 16.51 percent. The high degree of hemolysis was related to the presence of several isotype autoantibodies against four or more blood group specificities. Conclusions: The MAIEA technique is a sensitive method that can be used to determine the specificities and isotypes of autoantibodies in patients with warm autoimmune hemolytic anemia.

Introducción: La anemia hemolítica autoinmune es un trastorno poco común, caracterizado por hemólisis mediada por autoanticuerpos dirigidos contra los glóbulos rojos. La demostración de la especificidad de los anticuerpos es un procedimiento muy difícil, ya que los autoanticuerpos en general no son específicos de los antígenos y reaccionan con todos los eritrocitos analizados. Ocasionalmente, se observa especificidad contra los antígenos del sistema Rh. Objetivo: Determinar la especificidad de los autoanticuerpos eritrocitarios en pacientes con anemias hemolíticas autoinmunes PAD positivas con el empleo de la técnica MAIEA Métodos: Se determinó la especificidad e isotipo de los autoanticuerpos eritrocitarios en el eluido de 109 muestras de sangre de pacientes con anemia hemolítica autoinmune caliente, mediante la técnica de MAIEA y el uso de anticuerpos monoclonales que reconocieron 11 sistemas de grupos sanguíneos y la proteína CD47. Resultados: En el ciento por ciento de los casos se detectaron autoanticuerpos contra los antígenos del sistema Rh. En 24 casos se descubrió autoanticuerpos de isotipos IgA e IgM que reconocieron diferentes antígenos que fueron a su vez reconocidos por autoanticuerpos de isotipo IgG. Se observó para las anemias hemolíticas autoinmunes calientes idiopáticas y secundarias; predominio frente a tres o más especificidades. Se detectó IgG en el 99,09 por ciento de los eluidos, IgA en 35,77 por ciento e IgM en 16,51 por ciento. El alto grado de hemólisis se relacionó con la presencia de varios isotipos de autoanticuerpos contra cuatro o más especificidades de grupos sanguíneos. Conclusiones: La técnica MAIEA es un método sensible que puede usarse para determinar las especificidades e isotipos de autoanticuerpos en pacientes con anemia hemolítica autoinmune caliente.

Conocimientos actuales sobre la patogénesis, presentación clínica, diagnóstico y manejo de la trombocitopenia neonatal aloinmune / Current knowledge on neonatal alloimmune thrombocytopenia's pathogenesis, clinical presentation, diagnostic and management

Introducción: La trombocitopenia neonatal aloinmune es una enfermedad producida por anticuerpos maternos contra antígenos plaquetarios fetales heredados del padre. Puede ser causa de hemorragia intracraneal y conducir a la muerte o discapacidad en el feto/neonato. Aunque es la causa más grave de trombocitopenia en el neonato y la más común en los recién nacidos a término, en general ha sido poco investigada. Objetivos: Exponer los conocimientos actuales sobre la patogénesis, presentación clínica, diagnóstico y del manejo pre- y posnatal de la trombocitopenia neonatal aloinmune, Métodos: Se realizó una revisión de la literatura, en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico de artículos publicados en los últimos 10 años. Se hizo un análisis y resumen de la bibliografía revisada. Resultados: Los anticuerpos IgG maternos son transportados a través de la placenta a la circulación fetal, opsonizan las plaquetas fetales que son removidas por fagocitosis. Los antígenos más implicados son el HPA-1a y HPA-4a. La fisiopatología de la enfermedad es muy similar a la enfermedad hemolítica perinatal, pero aún no se han implementado programas de pesquisa y el diagnóstico se realiza después del nacimiento del niño afectado de trombocitopenia, hemorragia intracraneal o muerte in útero de causa no explicada. Consideraciones finales: El impacto clínico de la trombocitopenia neonatal aloinmune y las oportunidades de tratamiento potencian la necesidad de implantar programas de pesquisa para la detección de fetos en riesgo de padecer esta enfermedad(AU)

Introduction: Neonatal alloimmune thrombocytopenia is a disease produced by maternal antibodies against fetal platelet antigens inherited from the father. It can be a cause of intracranial hemorrhage and lead to death or disability in the fetus / neonate. Although it is the most serious cause of thrombocytopenia in newborns and the most common in full-term infants, it has generally been poorly investigated. Objectives: To approximate to current knowledge about the pathogenesis, clinical presentation, diagnosis and pre- and post-natal management of neonatal alloimmune thrombocytopenia. Methods: A review of literature, in English and Spanish, through PubMed website and Google scholar search engine of articles published in the last 10 years was conducted. An analysis and summary of the reviewed bibliography was made. Results: Maternal IgG antibodies are transported through the placenta to the fetal circulation, opsonizing fetal platelets that are removed by phagocytosis. The most involved antigens are HPA-1a and HPA-4a. The pathophysiology of this disease is very similar to perinatal hemolytic disease, but research programs have not been implemented yet and diagnosis is made after birth of children affected by thrombocytopenia, intracranial hemorrhage or in uterus death by unexplained causes. Final considerations: Clinical impacts of neonatal alloimmune thrombocytopenia and treatment opportunities enhance the need to implement screening programs for the detection of fetuses at risk of suffering from this disease(AU)

Introducción del genotipaje molecular de los antigenos plaquetarios / Introduction of molecular genotypingof plateles antigens

Introducción: Los antígenos plaquetarios humanos (HPA) se expresan en 6 glucoproteínas plaquetarias diferentes. Se ha descrito que estos antígenos pueden estimular la producción de aloanticuerpos una vez expuestos a plaquetas humanas con diferentes HPA, lo que provoca complicaciones clínicas como la trombocitopenia neonatal aloinmune y la púrpura postransfusional. Métodos: Se realizó el estudio a 11 muestras de pacientes en espera de trasplante renal de genotipo de los antígenos HPA-1,2,3 a/b mediante PCR multiplex, mientras que para el estudio de genotipo de los antígenos HPA-5a/b se utilizó la técnica de PCR con secuencia específica de primer. Los productos de ADN amplificados fueron visualizados mediante electroforesis en gel de agarosa y electroforesis capilar. Resultados: El análisis de los fragmentos de ADN amplificados revelaron resultados similares por ambos métodos. Para los antígenos HPA-1,-2, el 63 por ciento de las muestras fueron homocigóticas para el fenotipo (a) mientras que se observó heterocigocidad en todos los casos para el genotipo HPA-3. En el sistema HPA-5, el 54 por ciento fueron homocigóticas para el fenotipo (a) y el 46 por ciento, heterocigóticas. Para el genotipo del HPA-15, el 4 por ciento fueron homocigóticas para el fenotipo (b) mientras que el 96 por ciento resultaron ser heterocigóticas. Conclusiones: Estos resultados muestran similitudes para los genotipos HPA 1, 2,3 a/b, HPA 5a/b y HPA15 a/brespecto a lo planteado en la literatura(AU)

Introduction: Human platelet antigens (HPA) are expressed in 6 different platelet glycoproteins. It has been described that these antigens can stimulate the production of alloantibodies once exposed to human platelets with different HPA, which causes clinical complications such as neonatal alloimmune thrombocytopenia and postransfusional purpura. Methods: The study was performed on 11 samples of patients awaiting kidney transplantation of genotype of the HPA-1,2,3 a/b antigens by multiplex PCR, while for the genotype study of the HPA-5a/b antigens was used the PCR technique with primer-specificsequence. The amplified DNA products were visualized by agarose gel electrophoresis and by capillary electrophoresis. Results: The analysis of DNA fragments amplified by agarose electrophoresis and capillary electrophoresis revealed similar results in both methods. For the HPA-1, -2 antigens, 63 percent of the samples were homozygous for phenotype (a) while heterozygosity was observed in all cases for the HPA-3 genotype. In the HPA-5 system, 54 percent were homozygous for the phenotype (a) and 46 percent were heterozygous. For the genotype of HPA-15, 4 percent were homozygous for phenotype (b) while 96 percent proved heterozygous. Conclusions: These results show similarities for the genotypes HPA 1, 2.3 a/b, HPA 5a/b and HPA15 a/bwith respect to report in literature(AU)

Anticuerpos antiplaquetarios en pacientes cubanos en espera de trasplante renal / Platelet antibodies in cuban patients waiting for renal transplantation

Introducción: Los antígenos específicos de plaquetas, conocidos como antígenos de plaquetas humanas (HPA, del inglés human platelet antigens), se incluyen dentro del espectro de antígenos de histocompatibilidad no-HLA, debido a que los anticuerpos anti-HPA participan en el rechazo del trasplante, además de ser causa del fenómeno de refractariedad plaquetaria. Objetivo: Caracterizar los anticuerpos contra antígenos específicos de plaquetas en pacientes cubanos en espera de trasplante renal. Métodos: Se investigaron muestras de sangre de 901 pacientes mediante la técnica de inmovilización de antígenos plaquetarios con anticuerpos monoclonales. Resultados: En 78 pacientes se detectaron anticuerpos anti-HPA, que en el 87,17 por ciento reconocían los antígenos presentes en el complejo GP-IIb/IIIa. Estos anticuerpos fueron del tipo IgG en el 78,2 por ciento, IgA en el 11,53 por ciento e IgM en el 46,15 por ciento. Conclusiones: En pacientes cubanos en espera de trasplante renal son frecuentes los Ac anti-HPA, en su mayoría del tipo IgG dirigidos contra antígenos presentes en el complejo GP-IIb/IIIa(AU)

Introduction: Platelet-specific antigens, known as human platelet antigens (HPA), are included within the spectrum of non-HLA histocompatibility antigens, because HPA antibodies participate in the rejection of transplantation, besides being a cause of the phenomenon of platelet refractoriness. Objective: To characterize antibodies against platelet-specific antigens in Cuban patients awaiting kidney transplantation. Methods: The technique monoclonal antibodies immobilized platelets antigens was applied to blood samples from 901 patients. Results: HPA antibodies were detected in 78 patients, which in 87.17 percent recognized the antigens present in the GP-IIb / IIIa complex. These antibodies were in 78.2 percent of the IgG class, in 11.53 percent IgA and IgM in 46.15 percent. Conclusions: HPA antibodies, mostly of the IgG class and directed to antigens present in the GP-IIb/IIIa complex, are common in Cuban patients awaiting kidney transplantation(AU)

Caracterización del gen de fusión RUNX1-RUNX1T1 en pacientes cubanos con leucemia mieloide aguda, 2000-2016 / Characterization of RUNX1-RUNX1T1 fusion gene in Cuban patients with acute myeloid leukemia, 2000-2016

Introducción: el gen de fusión RUNX1-RUNX1T codifica para una proteína quimérica con múltiples efectos en la proliferación, diferenciación y viabilidad de las células leucémicas. Objetivo: describir el comportamiento del RUNX1-RUNX1T1 en pacientes cubanos con dicha enfermedad. Método: Para ello se estudió el gen de fusión RUNX1-RUNX1T1 en 251 pacientes con leucemia mieloide aguda, mediante la reacción en cadena de la polimerasa, en el Instituto de Hematología e Inmunología de La Habana, entre los años 2000 y 2016. Resultados: El 20,3 por ciento (51 pacientes) fue positivo para el gen de fusión RUNX1-RUNX1T1, con una edad comprendida entre los 11 meses y los 80 años, media de 26 años. En los pacientes pediátricos la frecuencia del transcrito fue casi el doble de la de los adultos (29,2 por ciento y 15,3 por ciento, respectivamente) (p= 0,009). Mayor cantidad de pacientes masculinos presentaron el gen quimérico. En menores de 25 años hubo una mayor frecuencia del transcrito (p=0,019) con predominio significativo de la mutación en los adolescentes (p=0,027). Cinco pacientes fueron positivos al RUNX1-RUNX1T1 y a la duplicación interna en tándem del gen FLT3 (12,2 por ciento). Ningún paciente positivo al RUNX1-RUNX1T1 presentó el gen de fusión CBFB-MYH11. La mayor asociación estuvo con la mutación A del gen NPM1 para un 25 por ciento. El debut de la enfermedad se caracterizó por anemia moderada (p= 0,024), trombocitopenia severa (p= 0,004) y gran infiltración medular. La mayor discrepancia entre diagnósticos se concentró entre las variantes morfológicas M2 y M3 (p= 0,000). Conclusiones: En pacientes cubanos la leucemia mieloide aguda con gen de fusión RUNX1-RUNX1T1 positivo, tiene un comportamiento similar a lo descrito internacionalmente con algunas particularidadesen las características hematológicas de presentación de la enfermedad. El estudio molecular es imprescindible para definir el diagnóstico, y la estrategia terapéutica en estos pacientes(AU)

Introduction: The RUNX1-RUNX1T fusion gene codes for a chimeric protein with multiple effects on the proliferation, differentiation and viability of leukemic cells. Objective: To describe the behavior of RUNX1-RUNX1T1 in Cuban patients with this disease. Method: The RUNX1-RUNX1T1 fusion gene was studied in 251 patients with acute myeloid leukemia, through the polymerase chain reaction, at the Institute of Hematology and Immunology of Havana, between 2000 and 2016. Results: The 20.3 percent (51 patients) were positive for the RUNX1-RUNX1T1 fusion gene, with an age between 11 months and 80 years, average of 26 years.In pediatric patients, the transcript frequency was almost twice that of adults (29.2 percent and 15.3 percent , respectively) (p= 0.009). More male patients presented the chimeric gene. There was a higher frequency of the transcript in children under 25 years of age (p= 0.019) with a significant predominance of the mutation in adolescents (p= 0.027).Five patients were positive for RUNX1-RUNX1T1 and for internal tandem duplication of the FLT3 gene (12.2 percent ).No patient positive for RUNX1-RUNX1T1 presented the CBFB-MYH11 fusion gene. The greatest association was with the A mutation of the NPM1 gene for 25 percent . The onset of the disease was characterized by moderate anemia (p= 0.024), severe thrombocytopenia (p= 0.004) and extensive bone marrow infiltration. The greatest discrepancy between diagnoses was concentrated between the morphological variants M2 and M3 (p= 0.000). Conclusions: In Cuban patients, acute myeloid leukemia with a positive RUNX1-RUNX1T1 fusion gene has a behavior similar to that described internationally with some peculiarities in the hematological characteristics of the disease presentation.The molecular study is essential to define the diagnosis, and the therapeutic strategy in these patients(AU)

Hemovigilancia de los efectos adversos a la donación de sangre / Hemovigilance of side effects related to blood donation

La donación de sangre es el sustento de los programas que proporcionan la sangre segura para el uso terapéutico, con el fin de preservar la salud y vida humana. Es necesario prestar especial atención a la seguridad y calidad de esta actividad ya que es también un principio ético, cuidar de la salud del que de forma altruista da parte de si para beneficiar a los demás. Aunque la donación es un proceder seguro, en ocasiones pueden presentarse efectos adversos en los donantes, algunos evitables, que pueden repercutir en su salud o afectar el retorno a esta actividad. A inicios de la década de 1990, surgen los programas de hemovigilancia encargados de velar, notificar, investigar y prevenir los efectos adversos de la transfusión y la donación, con el fin de prevenir su recurrencia e incrementar la seguridad y calidad de ambos procederes. Este trabajo realiza una revisión actualizada sobre las reacciones adversas de la donación en el contexto de la hemovigilancia(AU)

Blood donation is the livelihood of all blood programs to provide safe blood transfusion for therapeutic use whit the aim to preserve health and human life. It is necessary to pay attention to the safety and quality of this activity, because is an ethical principle to take care of the health of those who, in an altruist manner, give part of themselves in order to benefit others. Although the donation is a safe procedure, occasionally some side effects in donors may occur, many of them can be avoided, and that could have an echo on the donors' health on effect their return to this activity. At the beginning of the 90ths, decade started the Hemovigilance programs in charge of the vigilance, notification and prevention of transfusion and donation side effects, whit the purpose of preventing its recurrence and increase the safety and quality of both procedures. This work carries out and update revision about of donor's reactions in the Hemovigilance(AU)

Caracterización del gen de fusión RUNX1-RUNX1T1 en pacientes cubanos con leucemia mieloide aguda, 2000-2016 / Characterization of RUNX1-RUNX1T1 fusion gene in Cuban patients with acute myeloid leukemia, 2000-2016

Introducción: el gen de fusión RUNX1-RUNX1T codifica para una proteína quimérica con múltiples efectos en la proliferación, diferenciación y viabilidad de las células leucémicas. Objetivo: describir el comportamiento del RUNX1-RUNX1T1 en pacientes cubanos con dicha enfermedad. Método: Para ello se estudió el gen de fusión RUNX1-RUNX1T1 en 251 pacientes con leucemia mieloide aguda, mediante la reacción en cadena de la polimerasa, en el Instituto de Hematología e Inmunología de La Habana, entre los años 2000 y 2016. Resultados: El 20,3 por ciento (51 pacientes) fue positivo para el gen de fusión RUNX1-RUNX1T1, con una edad comprendida entre los 11 meses y los 80 años, media de 26 años. En los pacientes pediátricos la frecuencia del transcrito fue casi el doble de la de los adultos (29,2 por ciento y 15,3 por ciento, respectivamente) (p= 0,009). Mayor cantidad de pacientes masculinos presentaron el gen quimérico. En menores de 25 años hubo una mayor frecuencia del transcrito (p=0,019) con predominio significativo de la mutación en los adolescentes (p=0,027). Cinco pacientes fueron positivos al RUNX1-RUNX1T1 y a la duplicación interna en tándem del gen FLT3 (12,2 por ciento). Ningún paciente positivo al RUNX1-RUNX1T1 presentó el gen de fusión CBFB-MYH11. La mayor asociación estuvo con la mutación A del gen NPM1 para un 25 por ciento. El debut de la enfermedad se caracterizó por anemia moderada (p= 0,024), trombocitopenia severa (p= 0,004) y gran infiltración medular. La mayor discrepancia entre diagnósticos se concentró entre las variantes morfológicas M2 y M3 (p= 0,000). Conclusiones: En pacientes cubanos la leucemia mieloide aguda con gen de fusión RUNX1-RUNX1T1 positivo, tiene un comportamiento similar a lo descrito internacionalmente con algunas particularidadesen las características hematológicas de presentación de la enfermedad. El estudio molecular es imprescindible para definir el diagnóstico, y la estrategia terapéutica en estos pacientes(AU)

Introduction: The RUNX1-RUNX1T fusion gene codes for a chimeric protein with multiple effects on the proliferation, differentiation and viability of leukemic cells. Objective: To describe the behavior of RUNX1-RUNX1T1 in Cuban patients with this disease. Method: The RUNX1-RUNX1T1 fusion gene was studied in 251 patients with acute myeloid leukemia, through the polymerase chain reaction, at the Institute of Hematology and Immunology of Havana, between 2000 and 2016. Results: The 20.3 percent (51 patients) were positive for the RUNX1-RUNX1T1 fusion gene, with an age between 11 months and 80 years, average of 26 years.In pediatric patients, the transcript frequency was almost twice that of adults (29.2 percent and 15.3 percent , respectively) (p= 0.009). More male patients presented the chimeric gene. There was a higher frequency of the transcript in children under 25 years of age (p= 0.019) with a significant predominance of the mutation in adolescents (p= 0.027).Five patients were positive for RUNX1-RUNX1T1 and for internal tandem duplication of the FLT3 gene (12.2 percent ).No patient positive for RUNX1-RUNX1T1 presented the CBFB-MYH11 fusion gene. The greatest association was with the A mutation of the NPM1 gene for 25 percent . The onset of the disease was characterized by moderate anemia (p= 0.024), severe thrombocytopenia (p= 0.004) and extensive bone marrow infiltration. The greatest discrepancy between diagnoses was concentrated between the morphological variants M2 and M3 (p= 0.000). Conclusions: In Cuban patients, acute myeloid leukemia with a positive RUNX1-RUNX1T1 fusion gene has a behavior similar to that described internationally with some peculiarities in the hematological characteristics of the disease presentation.The molecular study is essential to define the diagnosis, and the therapeutic strategy in these patients(AU)

Hemovigilancia de los efectos adversos a la donación de sangre / Hemovigilance of side effects related to blood donation

La donación de sangre es el sustento de los programas que proporcionan la sangre segura para el uso terapéutico, con el fin de preservar la salud y vida humana. Es necesario prestar especial atención a la seguridad y calidad de esta actividad ya que es también un principio ético, cuidar de la salud del que de forma altruista da parte de si para beneficiar a los demás. Aunque la donación es un proceder seguro, en ocasiones pueden presentarse efectos adversos en los donantes, algunos evitables, que pueden repercutir en su salud o afectar el retorno a esta actividad. A inicios de la década de 1990, surgen los programas de hemovigilancia encargados de velar, notificar, investigar y prevenir los efectos adversos de la transfusión y la donación, con el fin de prevenir su recurrencia e incrementar la seguridad y calidad de ambos procederes. Este trabajo realiza una revisión actualizada sobre las reacciones adversas de la donación en el contexto de la hemovigilancia(AU)

Blood donation is the livelihood of all blood programs to provide safe blood transfusion for therapeutic use whit the aim to preserve health and human life. It is necessary to pay attention to the safety and quality of this activity, because is an ethical principle to take care of the health of those who, in an altruist manner, give part of themselves in order to benefit others. Although the donation is a safe procedure, occasionally some side effects in donors may occur, many of them can be avoided, and that could have an echo on the donors' health on effect their return to this activity. At the beginning of the 90ths, decade started the Hemovigilance programs in charge of the vigilance, notification and prevention of transfusion and donation side effects, whit the purpose of preventing its recurrence and increase the safety and quality of both procedures. This work carries out and update revision about of donor's reactions in the Hemovigilance(AU)