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Lager yeasts are limited to a few strains worldwide, imposing restrictions on flavour and aroma diversity and hindering our understanding of the complex evolutionary mechanisms during yeast domestication. The recent finding of diverse S. eubayanus lineages from Patagonia offers potential for generating new lager yeasts with different flavour profiles. Here, we leverage the natural genetic diversity of S. eubayanus and expand the lager yeast repertoire by including three distinct Patagonian S. eubayanus lineages. We used experimental evolution and selection on desirable traits to enhance the fermentation profiles of novel S. cerevisiae x S. eubayanus hybrids. Our analyses reveal an intricate interplay of pre-existing diversity, selection on species-specific mitochondria, de-novo mutations, and gene copy variations in sugar metabolism genes, resulting in high ethanol production and unique aroma profiles. Hybrids with S. eubayanus mitochondria exhibited greater evolutionary potential and superior fitness post-evolution, analogous to commercial lager hybrids. Using genome-wide screens of the parental subgenomes, we identified genetic changes in IRA2, IMA1, and MALX genes that influence maltose metabolism, and increase glycolytic flux and sugar consumption in the evolved hybrids. Functional validation and transcriptome analyses confirmed increased maltose-related gene expression, influencing greater maltotriose consumption in evolved hybrids. This study demonstrates the potential for generating industrially viable lager yeast hybrids from wild Patagonian strains. Our hybridization, evolution, and mitochondrial selection approach produced hybrids with high fermentation capacity and expands lager beer brewing options.
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Cerveja , Fermentação , Hibridização Genética , Saccharomyces cerevisiae , Cerveja/microbiologia , Fermentação/genética , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Saccharomyces/genética , Saccharomyces/metabolismo , Etanol/metabolismo , Mitocôndrias/genética , Mitocôndrias/metabolismo , Genoma Fúngico , Evolução Molecular , Variação Genética , Maltose/metabolismo , MutaçãoRESUMO
In a competitive and demanding world, academic stress is of increasing concern to students. This systemic, adaptive, and psychological process is composed of stressful stimuli, imbalance symptoms, and coping strategies. The SISCO-II Academic Stress Inventory (SISCO-II-AS) is a psychometric instrument validated in Chile. It evaluates stressors, symptoms, and coping, both individually and globally. For its practical interpretation, a scale is required. Therefore, this study aims to descriptively analyze the SISCO-II-AS and to obtain its corresponding scales. Employing a non-experimental quantitative approach, we administered the SISCO-II-AS to 1,049 second and third-year students from three Chilean universities, with a disproportionate gender representation of 75.21% female to 24.79% male participants. Through descriptive and bivariate analysis, we established norms based on percentiles. For the complete instrument and its subscales, significant differences by sex were identified, with magnitudes varying from small to moderate. For the full instrument and its subscales, bar scale norms by percentile and sex are presented. Each subscale (stressors, physical and psychological reactions, social behavioural reactions, total reaction, and coping) has score ranges defined for low, medium, and high levels. These ranges vary according to the sex of the respondent, with notable differences in stressors and physical, psychological, and social behavioural reactions. This study stands out for its broad and heterogeneous sample, which enriches the representativeness of the data. It offers a comprehensive view of academic stress in college students, identifying distinctive factors and highlighting the importance of gender-sensitive approaches. Its findings contribute to understanding and guide future interventions. By offering a descriptive analysis of the SISCO-II-AS inventory and establishing bar norms, this research aids health professionals and educators in better assessing and addressing academic stress in the student population.
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Adaptação Psicológica , Estresse Psicológico , Humanos , Masculino , Feminino , Estresse Psicológico/diagnóstico , Estudos Transversais , Estudantes/psicologia , Capacidades de EnfrentamentoRESUMO
Introduction: Academic stress (AS) is a prevalent challenge faced by university students, potentially affecting molecular indicators such as brain-derived neurotrophic factor (BDNF) and global DNA methylation (G-DNA-M). These indicators could illuminate the physiological ramifications of academic stress. Study Design and Methods: This research followed a quantitative, non-experimental, longitudinal panel design spanning two academic semesters, observing phenomena in their natural context. Students from the Medical Technology program at Universidad de Concepción, Chile were involved, with assessments at the beginning and during heightened academic stress periods. Sample: Of the total participants, 63.0% were females, with an average age of 21.14 years at baseline, and 36.92% were males, averaging 21.36 years. By the study's conclusion, female participants averaged 21.95 years, and males 22.13 years. Results: Significant differences were observed between initial and final assessments for the SISCO-II Inventory of Academic Stress and Beck Depression Inventory-II, notably in stressor scores, and physical, and psychological reactions. Gender differences emerged in the final physical and psychological reactions. No significant changes were detected between the two assessments in plasma BDNF or G-DNA-M values. A refined predictive model showcased that, on average, there was a 3.56% decrease in females' plasma BDNF at the final assessment and a 17.14% decrease in males. In the sample, the G-DNA-M percentage at the final assessment increased by 15.06% from the baseline for females and 18.96% for males. Conclusions: The study underscores the physiological impact of academic stress on university students, evidenced by changes in markers like BDNF and G-DNA-M. These findings offer an in-depth understanding of the intricate mechanisms regulating academic stress responses and highlight the need for interventions tailored to mitigate its physiological and psychological effects.
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Fator Neurotrófico Derivado do Encéfalo , Estresse Psicológico , Masculino , Humanos , Feminino , Adulto Jovem , Adulto , Fator Neurotrófico Derivado do Encéfalo/genética , Chile , Estresse Psicológico/epidemiologia , Estudantes , DNARESUMO
A family of acylhydrazones have been prepared and characterized with the aim of investigating their potential as information storage systems. Their well-established synthetic methodologies allowed for the preparation of seven chemically stable acylhydrazones in excellent yields that have been photophysically and photochemically characterized. In addition, DFT and TD-DFT calculations have been performed to gain more insights into the structural, energetic and photophysical properties of the E/Z isomers. Our results reveal that E/Z configurational isomerization upon irradiation is highly dependent on the stabilization of the E or Z isomers due to the formation of intramolecular H bonds and the electronic/steric effects intrinsically related to their structures. In addition, Raman spectroscopy is also used to confirm the molecular structural changes after the formation of hydrogen bonds in the isomers.
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Análise Espectral Raman , Modelos Moleculares , Isomerismo , Espectroscopia de Ressonância Magnética , Teoria da Densidade FuncionalRESUMO
Post-traumatic stress (PTSD) disorder is a mental health condition that can occur after experiencing or witnessing a traumatic event. The 27-F earthquake that struck Chile in 2010 was one such event that had a significant impact on the mental health of the population. A study was conducted to investigate the prevalence of PTSD and its associated factors among survivors of this earthquake. The study was a longitudinal design, involving a sample of 913 patients aged 18 to 75 years who attended 10 Primary Care Centers in Concepción, Chile. The Composite International Diagnostic Interview (CIDI) was used to assess both depressive episodes (DE) and PTSD before and after the earthquake. The study also involved genotyping studies using saliva samples from the participants, specifically focusing on the Val66Met and 5-HTTLPR polymorphisms. Statistical analysis was performed to examine the association between different variables and the presence of PTSD. These variables included demographic factors, family history of psychiatric disorders, DE, childhood maltreatment experiences, and critical traumatic events related to the earthquake. The results showed that the incidence of post-earthquake PTSD was 11.06%. No significant differences were found between the groups of participants who developed post-earthquake PTSD regarding the Val66Met or 5-HTTLPR polymorphisms. However, a significant association was found between the concomitant diagnosis of DE and the development of post-earthquake PTSD. The presence of DE doubled the risk of developing post-earthquake PTSD. The number of traumatic events experienced also had a statistically significant association with an increased risk of developing post-earthquake PTSD. The study's limitations include the potential interference of different DE subtypes, the complexity of quantifying the degree of earthquake exposure experienced by each individual, and events entailing social disruption, such as looting, that can profoundly influence distress. In conclusion, the study found that PTSD following the 27-F earthquake in Chile was associated with a concomitant diagnosis of DE and the number of traumatic events experienced. The study did not find a significant association between PTSD and the Val66Met or 5-HTTLPR polymorphisms. The researchers recommend that mental health professionals should prioritize the detection and treatment of concomitant depressive episodes and exposure to critical traumatic events in survivors of disasters. They also suggest that further research is needed to better understand the relationship between genetic factors and post-disaster PTSD.
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Fator Neurotrófico Derivado do Encéfalo , Terremotos , Proteínas da Membrana Plasmática de Transporte de Serotonina , Transtornos de Estresse Pós-Traumáticos , Humanos , Fator Neurotrófico Derivado do Encéfalo/genética , Chile/epidemiologia , Prevalência , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Proteínas da Membrana Plasmática de Transporte de Serotonina/genéticaRESUMO
A series of donor-π-acceptor-π-donor (D-π-A-π-D) compounds based on naphthalendiimide (NDI) and perylenediimide (PDI) central cores combined with triphenylamine and phenylcarbazole donor groups have been synthesized, characterized and tested in top-contact/bottom gate organic field-effect transistors (OFETs). The results showed high electron mobilities, up to 0.3â cm2 V-1 s-1 , in the case of NDI derivatives and moderate values of around 10-3 â cm2 V-1 s-1 for PDI-based semiconductors. Quantum chemical calculations were performed in order to support the experimental data. The results suggest that adequate molecular characteristics and larger crystalline domains in NDI vs. PDI semiconducting films may be the reasons behind the enhanced electrical properties of NDI derivatives. Furthermore, when the lateral donor substituents are triphenylamine groups, the mobilities were slightly higher in comparison to phenylcarbazole donor groups due to an improved electron-donating character. Other characterization techniques, such as AFM, X-ray diffraction or spectroelectrochemistry, among others, have been performed to analyze supramolecular order, charge carriers' nature and stability, parameters closely related to charge transport characteristics.
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INTRODUCTION: Brain-derived neurotrophic factor (BDNF) is essential for brain physiological processes influencing memory and learning. BDNF levels can be affected by many factors, including stress. Stress increase serum and salivary cortisol levels. Academic stress is of the chronic type. BDNF levels can be measure from serum, plasma or platelets, and there is still no standard methodology, which is relevant to ensure reproducibility and comparability between studies. HYPOTHESIS: (i) BDNF concentrations in serum show greater variability than in plasma. (ii) In college students with academic stress, peripheral BDNF decreases and salivary cortisol increases. GENERAL OBJECTIVE: To standardize plasma and serum collection for BDNF levels and to determine whether academic stress affects peripheral BDNF and salivary cortisol levels. DESIGN: Quantitative research, with a non-experimental cross-sectional descriptive design. PARTICIPANTS: Student volunteers. Under convenience sampling, 20 individuals will be included for standardization of plasma and serum collection and between 70 and 80 individuals to determine the effect of academic stress on BDNF and salivary cortisol. PERIPHERAL BLOOD AND SALIVARY CORTISOL SAMPLING, MEASUREMENTS: 12 mL of peripheral blood (with and without anticoagulant) will be drawn per participant, separated from plasma or serum and cryopreserved at -80°C. Additionally, they will be instructed in the collection of 1 mL of saliva samples, which will be centrifuged. Val66Met polymorphism will be performed by allele-specific PCR, while BDNF and salivary cortisol levels will be determined by ELISA. STATISTICAL ANALYSIS: (i) descriptive analysis of the variables, through measures of central tendency and dispersion, and the categorical variables through their frequency and percentage. (ii) Then a bivariate analysis will be performed comparing groups using each variable separately. EXPECTED RESULTS: We expect to (i) determine the analytical factors that allow a better reproducibility in the measurement of peripheral BDNF, and (ii) the effect of academic stress on BDNF and salivary cortisol levels.
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Fator Neurotrófico Derivado do Encéfalo , Hidrocortisona , Humanos , Hidrocortisona/análise , Estudos Transversais , Reprodutibilidade dos Testes , Saliva/química , EstudantesRESUMO
Pericardial effusions requiring pericardiocentesis have multiple causes that vary among geographical regions and health contexts. This procedure can be performed for diagnostic or therapeutic indications. The purpose of this study was to identify the principal causes of pericardial effusions and indications for pericardiocentesis, exploring differences among groups. This was a retrospective case series of patients who underwent pericardiocentesis for pericardial effusion in a single center in Latin America. Demographic, clinical, echocardiographic, and procedural variables were recorded and analyzed. The primary outcome was to determine the causes of pericardial effusions in these patients and the indication (diagnostic, therapeutic, or both). The results are presented in two groups (inflammatory and noninflammatory) according to the cause of the pericardial effusion. One hundred sixteen patients with pericardial effusion underwent pericardiocentesis. The median age was 58 years (IQR 46.2-70.7), and 50% were male. In the noninflammatory pericardial effusion group, there were 61 cases (53%), among which neoplastic pericardial effusion was the most frequent cause (n = 25, 40.9%). In the inflammatory group, there were 55 cases (47%), and the main cause was postpericardiectomy syndrome after cardiac surgery (n = 31, 56.4%). In conclusion, the principal indication for pericardiocentesis was therapeutic (n = 66, 56.8%). Large pericardial effusion without hemodynamic effect of cardiac tamponade was significantly more frequent in the inflammatory group (p = 0.03). The principal cause of pericardial effusion in patients who underwent pericardiocentesis was postpericardiectomy syndrome after cardiac surgery, followed by neoplastic pericardial effusion. Pericardiocentesis is mainly a therapeutic procedure.
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Tamponamento Cardíaco , Derrame Pericárdico , Tamponamento Cardíaco/etiologia , Tamponamento Cardíaco/cirurgia , Feminino , Humanos , América Latina , Masculino , Pessoa de Meia-Idade , Derrame Pericárdico/etiologia , Derrame Pericárdico/cirurgia , Pericardiocentese/efeitos adversos , Pericardiocentese/métodos , Estudos RetrospectivosRESUMO
Obstructive sleep apnea (OSA) is the most common respiratory disease in the developed world and is commonly treated with positive airway pressure therapy (PAP). Recently, hypoglossal nerve (HNS) has been introduced as alternative treatment for OSA patients with PAP intolerance. We report the initial results with HNS treatment from Spain. Patients with OSA and PAP intolerance were screened for HNS treatment with the Inspire™ system. After implantation and activation, efficacy was evaluated with polysomnography and indication-specific questionnaires. Adherence data was recorded from the stimulation system. 18 patients (51.83 ± 11.64 years, 94% male, mean Body Mass Index 27.94 ± 3.20) received an Inspire™ UAS system and were included for analysis. Mean procedure time was 202.83 ± 64.87 min. and average hospital stay 26.67 ± 7.54 h. Mean Apnea-Hypopnea-Index was reduced by 63.44% (p ≤ 0.0001), while daytime sleepiness improved to a mean ESS score of 6.60 ± 1.25 (p ≤ 0.0001 Therapy response (AHI reduction > 50% and final AHI < 20), was reached in 64.70 and normalization of daytime sleepiness (final ESS score < 10) in 100% of patients. Therapy adherence was 6.32 ± 1.71 h per night. HNS is a safe and leads to effective OSA control and symptom normalization in selected OSA patients with PAP intolerance. Stimulation therapy is well accepted, as demonstrated by high adherence. Implementation of HNS therapy into an OSA program in Spain is feasible with acceptable learning curve and moderate resource utilization.
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Resumen: Los estudios superiores representan el punto culminante del estrés académico, proceso multifactorial complejo, con alta carga de trabajo. El inventario SISCO del estrés académico posee buenas propiedades psicométricas para sus subescalas de Estresores, Sintomatología y para la puntuación media total, no así para la subescala de Afrontamiento. El objetivo de este artículo es corroborar lo reportado previamente en base a un análisis psicométrico completo. En 1126 estudiantes universitarios, se obtuvieron buenas propiedades psicométricas para las subescalas de Estresores y Sintomatología, con un buen ajuste en el análisis factorial confirmatorio, en base a una estructura de cuatro factores. La subescala de Sintomatología quedó conformada por las subescalas Reacciones físicas y psicológicas y por Reacciones del comportamiento social. La subescala de Afrontamiento mantiene propiedades psicométricas deficientes. La puntuación para el total de los ítems del instrumento muestra buenas propiedades psicométricas (alfa de Cronbach y omega de 0.820 y 0.860, respectivamente). Se corrobora lo reportado previamente, avalándose la necesidad de más estudios, y la modificación del instrumento, en especial la subescala de Afrontamiento.
Abstract: Higher education represents the peak of academic stress, a complex multifactorial process with a high workload. The SISCO academic stress inventory has good psychometric properties for its subscales Stressors, Symptomatology and for the whole instrument, but not for the Coping subscale. The aim of this paper is to corroborate previous reports based on a full psychometric analysis. In 1,126 university students, good psychometric properties were obtained for the Stressors and Symptomatology subscales, with a good fit in the confirmatory factor analysis, based on a four-factor structure. The Symptomatology subscale consisted of the subscales Physical and Psychological Reactions and Social Behavioural Reactions. The Coping subscale maintains poor psychometric properties. The complete scale score shows good psychometric properties (Cronbach's alpha and omega of 0.820 and 0.860, respectively). This corroborates previous reports and supports the need for further study and modification of the instrument, especially the Coping subscale.
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Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Estresse Psicológico/diagnóstico , Estudantes/psicologia , Desempenho Acadêmico , Adaptação Psicológica , Análise FatorialRESUMO
In this study, a set of 10 positional indolocarbazole (ICz) isomers substituted with dicyanomethylene groups connected via para or meta positions are computationally investigated with the aim of exploring the efficiency of structural isomerism and substitution position in controlling their optical and electronic properties. Unrestricted density functional theory (DFT), a spin-flip time-dependent DFT approach, and the multireference CASSCF/NEVPT2 method have been applied to correlate the diradical character with the energetic trends (i.e., singlet-triplet energy gaps). In addition, the nucleus-independent chemical shift together with ACID plots and Raman intensity calculations were used to strengthen the relationship between the diradical character and (anti)aromaticity. Our study reveals that the substitution pattern and structural isomerism represent a very effective way to tune the diradical properties in ICz-based systems with meta-substituted systems with a V-shaped structure displaying the largest diradical character. Thus, this work contributes to the elucidation of the challenging chemical reactivity and physical properties of diradicaloid systems, guiding experimental chemists to produce new molecules with desirable properties.
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Transoral robotic surgery (TORS) for Obstructive Sleep Apnea (OSA) is a relatively young technique principally devised for managing apneas in the tongue base area. This study summarizes and presents our personal experience with TORS for OSA treatment, with the aim to provide information regarding its safety, efficacy, and postoperative complications. A retrospective study was conducted on patients undergoing TORS with lingual tonsillectomy through the Da Vinci robot. The effectiveness of the surgical procedure was assessed employing the Epworth Sleepiness Scale (ESS) and overnight polysomnography with the Apnea-Hypopnea Index (AHI). A total of 57 patients were included. Eighteen patients (31.6%) had undergone previous surgery. The mean time of TORS procedure was 30 min. Base of tongue (BOT) management was associated with other procedures in all patients: pharyngoplasty (94%), tonsillectomy (66%), and septoplasty (58%). At 6 months follow-up visit, there was a significant improvement in AHI values (from 38.62 ± 20.36 to 24.33 ± 19.68) and ESS values (from 14.25 ± 3.97 to 8.25 ± 3.3). The surgical success rate was achieved in 35.5% of patients. The most frequent major complication was bleeding, with the need for operative intervention in three cases (5.3%). The most common minor complications were mild dehydration and pain. TORS for OSA treatment appears to be an effective and safe procedure for adequately selected patients looking for an alternative therapy to CPAP.
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Purpose: Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous malignant lymphoid neoplasm and is the most common subtype of non-Hodgkin lymphoma in adults. More than half of patients with DLBCL can achieve remission with standard R-CHOP regimes; however, approximately 30-40% of patients are still failing this standard therapy, which remains as an important cause of progression and mortality of this disease. It is necessary to have diagnostic and monitoring tools that allow us to improve the accuracy of prognosis in these patients. Circulating tumor cells (CTCs) identification through molecular biomarkers is one of the novel strategies that have been used in other types of cancer, and we aim to use this tool to analyze the potential role in DLBCL. Patients and Methods: We analyzed 138 blood samples of patients with DLBCL, of which CTCs were isolated by density gradient for subsequent detection and quantitation of molecular biomarkers using RT-qPCR with TaqMan probes. Survival analysis was performed using Kaplan-Meier curves. Results: We found overexpression of ABCB1, αSMA, BCL2, BCL6 and VEGFR1 genes, as well as the presence of CK19, EpCAM, KI67, MAGE-A4, SNAIL and TWIST1 genes. CK19 and EpCAM expression were associated with a minor OS (85.7% vs 98.1%, p = 0.002). The overexpression of BCL2, BCL6, VEGFR1 and TWIST1 was related to a minor EFS (p = 0.001). Conclusion: This study showed that in liquid biopsies analyzed, the presence of CTCs can be confirmed through molecular biomarkers, and it has an impact on OS and EFs, making this detection useful in the follow-up and prognosis of patients with DLBCL.
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The objective of this work is to generate recommendations on the management of allogeneic stem cell transplantation (allo-SCT) in primary myelofibrosis (PMF). A comprehensive systematic review of articles published between 1999 and 2015 (January) was used as a source of scientific evidence. The recommendations were produced through a Delphi process involving a panel of 23 experts appointed by the European LeukemiaNet and the European Blood and Marrow Transplantation Group. Key questions included patient selection, donor selection, pre-transplant management, conditioning regimen, post-transplant management, prevention, and management of post-transplant relapse. Patients with intermediate-2 or high-risk disease and age < 70 years should be considered candidates for allo-SCT. Patients with intermediate-risk 1 disease and age < 65 years should be considered candidates if they have refractory transfusion-dependent anemia, or a peripheral blood (PB) blast percentage > 2%, or adverse cytogenetics. Splenectomy before transplantation must be decided on a case-by-case basis. Patients with intermediate-2 or high-risk disease who lack a human leukocyte antigen (HLA)-matched sibling or unrelated donor should be enrolled in a protocol that uses HLA non-identical donors. PB was considered the most appropriate source of hematopoietic stem cells for transplants from HLA-matched unrelated donors and siblings. The optimal intensity of the conditioning regimen has yet to be defined. Strategies such as discontinuation of immunosuppressive drugs, infusion of donor lymphocytes, or both were considered adequate to prevent clinical relapse. In conclusion, we provide consensus-based recommendations aimed at optimizing allo-SCT in PMF. Unmet clinical needs were highlighted.
El objetivo de este trabajo es generar recomendaciones sobre el manejo del trasplante alogénico de células madre (alo-SCT) en la mielofibrosis primaria (MFP). Se utilizó una revisión sistemática integral de artículos publicados entre 1999 y 2015 (enero) como fuente de evidencia científica. Las recomendaciones se produjeron mediante un proceso Delphi en el que participó un panel de 23 expertos designados por la European LeukemiaNet y el European Blood and Marrow Transplantation Group. Las preguntas clave incluyeron la selección de pacientes, la selección de donantes, el manejo previo al trasplante, el régimen de acondicionamiento, el manejo posterior al trasplante, la prevención y el manejo de la recaída después del trasplante. Los pacientes con enfermedad de riesgo intermedio 2 o alto y edad < 70 años deben ser considerados candidatos para alo-SCT. Los pacientes con enfermedad de riesgo intermedio 1 y edad < 65 años deben ser considerados candidatos si presentan anemia refractaria dependiente de transfusiones, o un porcentaje de blastos en sangre periférica > 2%, o citogenética adversa. La esplenectomía previa al trasplante debe decidirse caso por caso. Los pacientes con enfermedad de riesgo intermedio 2 o alto que carecen de un hermano compatible con el antígeno leucocitario humano (HLA) o de un donante no emparentado deben inscribirse en un protocolo que utilice donantes no idénticos de HLA. PB se consideró la fuente más apropiada de células madre hematopoyéticas para trasplantes de hermanos y donantes no emparentados compatibles con HLA. La intensidad óptima del régimen de acondicionamiento aún debe definirse. Se consideraron adecuadas estrategias como la suspensión de los fármacos inmunosupresores, la infusión de linfocitos del donante o ambas para evitar la recaída clínica. En conclusión, proporcionamos recomendaciones basadas en consenso destinadas a optimizar el alo-SCT en MFP. Se destacaron las necesidades clínicas insatisfechas.
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Essential thrombocythemia (ET) is a chronic Philadelphia-negative myeloproliferative neoplasm that has its main involvement in the megakaryopoietic lineage, generating sustained thrombocytosis in peripheral blood and an increase in the number of mature megakaryocytes in the bone marrow. In addition to marked thrombocytosis, it is characterized by increased thrombotic or hemorrhagic risk and the presence of constitutional symptoms. Patients with ET have a low but known risk of disease progression to myelofibrosis and/or acute leukemia. The diagnosis is made based on the 2016 WHO criteria. At present, available treatments for patients with ET are mainly aimed at minimizing the risk of thrombosis and/or bleeding.
La trombocitemia esencial (TE) es una neoplasia mieloproliferativa crónica Filadelfia negativa que tiene su principal involucro en la línea megacariopoyética, generando trombocitosis sostenida en la sangre periférica y un incremento en el número de megacariocitos maduros en médula ósea. Además de una marcada trombocitosis, se caracteriza por un mayor riesgo trombótico o hemorrágico y la presencia de síntomas constitucionales. Los pacientes con TE tienen un riesgo bajo, pero conocido, de evolución de la enfermedad a mielofibrosis y/o leucemia aguda. El diagnóstico se realiza con base en los criterios de la Organización Mundial de la Salud del 2016. Los tratamientos actualmente disponibles para los pacientes con TE están dirigidos principalmente a minimizar el riesgo de trombosis y/o hemorragia.
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Myeloproliferative neoplasms (MPN) are associated with a significant risk of thrombosis and the hypercoagulable environment of pregnancy increases this risk. The most frequent gestational complications consist of spontaneous abortion, thrombosis, bleeding, and hypertensive disease of pregnancy. Treatment depends on thrombotic risk, gestational trimester, and myeloproliferative neoplasm.
Las neoplasias mieloproliferativas (NMP) están asociadas a un riesgo notable de trombosis y el entorno de hipercoagulabilidad propio del embarazo aumenta este riesgo. Las complicaciones gestacionales más frecuentes consisten en: aborto espontáneo, trombosis, sangrado y enfermedad hipertensiva del embarazo. El tratamiento depende del riesgo trombótico, trimestre gestacional y neoplasia mieloproliferativa.
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Polycythemia vera (PV) is mainly characterized by erythrocytosis, thrombotic and hemorrhagic predisposition, a variety of symptoms, and cumulative risks of fibrotic progression and/or leukemic evolution over time. The diagnosis is made based on the 2016 WHO criteria. The treatment of PV focuses on rapidly reducing the erythrocyte mass, either by means of phlebotomies or with cytoreductive treatment, and the reduction of thrombotic risk by correcting cardiovascular risk factors and the use of platelet antiaggregants.
La policitemia vera (PV) se caracteriza principalmente por eritrocitosis, predisposición trombótica y hemorrágica, una variedad de síntomas y riesgos acumulativos de progresión fibrótica y/o evolución leucémica a lo largo del tiempo. El diagnóstico se realiza con base en los criterios de la Organización Mundial de la Salud del 2016. El tratamiento de la PV se centra en reducir rápidamente la masa eritrocitaria, ya sea por medio de flebotomías o con tratamiento citorreductor, y la disminución del riesgo trombótico mediante la corrección de factores de riesgo cardiovascular y el uso de antiagregantes plaquetarios.
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Patients with myeloproliferative neoplasms have an increased risk of thrombosis and bleeding. This risk must be identified, as well as individualizing the therapeutic strategy before invasive procedures; adequate cytoreduction reduces the risk of complications.
Los pacientes con neoplasias mieloproliferativas tienen un riesgo incrementado de trombosis y sangrado. Se debe identificar dicho riesgo, así como individualizar la estrategia terapéutica previo a los procedimientos invasivos; una adecuada citorreducción disminuye el riesgo de complicaciones.
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In addition to symptoms secondary to splenomegaly, microvascular abnormalities, and thrombohemorrhagic complications, patients with MPN may experience a significant symptom burden attributed to an increase in circulating inflammatory cytokines. These symptoms can be severe and limit quality of life. Therefore, in addition to the prevention of complications, one of the objectives of the treatment of MPN is the control of symptoms.
Además de la sintomatología secundaria a la esplenomegalia, a las alteraciones microvasculares y a las complicaciones trombohemorrágicas, los pacientes con neoplasias mieloproliferativas (NMP) pueden experimentar una importante carga sintomática atribuida a un aumento de citocinas inflamatorias circulantes. Estos síntomas pueden ser severos y limitar la calidad de vida. Por ello, además de la prevención de las complicaciones, uno de los objetivos del tratamiento de las NMP es el control de los síntomas.