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INTRODUCTION: Congenital disorders of glycosylation (CDG) are a continuously expanding group of monogenic disorders that disrupt glycoprotein and glycolipid biosynthesis, leading to multi-systemic manifestations. These disorders are categorized into various groups depending on which part of the glycosylation process is impaired. The cardiac manifestations in CDG can significantly differ, not only across different types but also among individuals with the same genetic cause of CDG. Cardiomyopathy is an important phenotype in CDG. The clinical manifestations and progression of cardiomyopathy in CDG patients have not been well characterized. This study aims to delineate common patterns of cardiomyopathy across a range of genetic causes of CDG and to propose baseline screening and follow-up evaluation for this patient population. METHODS: Patients with molecular confirmation of CDG who were enrolled in the prospective or memorial arms of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study were ascertained for the presence of cardiomyopathy based on a retrospective review of their medical records. All patients were evaluated by clinical geneticists who are members of FCDGC at their respective academic centers. Patients were screened for cardiomyopathy, and detailed data were retrospectively collected. We analyzed their clinical and molecular history, imaging characteristics of cardiac involvement, type of cardiomyopathy, age at initial presentation of cardiomyopathy, additional cardiac features, the treatments administered, and their clinical outcomes. RESULTS: Of the 305 patients with molecularly confirmed CDG participating in the FCDGC natural history study as of June 2023, 17 individuals, nine females and eight males, were identified with concurrent diagnoses of cardiomyopathy. Most of these patients were diagnosed with PMM2-CDG (n = 10). However, cardiomyopathy was also observed in other diagnoses, including PGM1-CDG (n = 3), ALG3-CDG (n = 1), DPM1-CDG (n = 1), DPAGT1-CDG (n = 1), and SSR4-CDG (n = 1). All PMM2-CDG patients were reported to have hypertrophic cardiomyopathy. Dilated cardiomyopathy was observed in three patients, two with PGM1-CDG and one with ALG3-CDG; left ventricular non-compaction cardiomyopathy was diagnosed in two patients, one with PGM1-CDG and one with DPAGT1-CDG; two patients, one with DPM1-CDG and one with SSR4-CDG, were diagnosed with non-ischemic cardiomyopathy. The estimated median age of diagnosis for cardiomyopathy was 5 months (range: prenatal-27 years). Cardiac improvement was observed in three patients with PMM2-CDG. Five patients showed a progressive course of cardiomyopathy, while the condition remained unchanged in eight individuals. Six patients demonstrated pericardial effusion, with three patients exhibiting cardiac tamponade. One patient with SSR4-CDG has been recently diagnosed with cardiomyopathy; thus, the progression of the disease is yet to be determined. One patient with PGM1-CDG underwent cardiac transplantation. Seven patients were deceased, including five with PMM2-CDG, one with DPAGT1-CDG, and one with ALG3-CDG. Two patients died of cardiac tamponade from pericardial effusion; for the remaining patients, cardiomyopathy was not necessarily the primary cause of death. CONCLUSIONS: In this retrospective study, cardiomyopathy was identified in â¼6% of patients with CDG. Notably, the majority, including all those with PMM2-CDG, exhibited hypertrophic cardiomyopathy. Some cases did not show progression, yet pericardial effusions were commonly observed, especially in PMM2-CDG patients, occasionally escalating to life-threatening cardiac tamponade. It is recommended that clinicians managing CDG patients, particularly those with PMM2-CDG and PGM1-CDG, be vigilant of the cardiomyopathy risk and risk for potentially life-threatening pericardial effusions. Cardiac surveillance, including an echocardiogram and EKG, should be conducted at the time of diagnosis, annually throughout the first 5 years, followed by check-ups every 2-3 years if no concerns arise until adulthood. Subsequently, routine cardiac examinations every five years are advisable. Additionally, patients with diagnosed cardiomyopathy should receive ongoing cardiac care to ensure the effective management and monitoring of their condition. A prospective study will be required to determine the true prevalence of cardiomyopathy in CDG.
Subject(s)
Cardiomyopathies , Congenital Disorders of Glycosylation , Phenotype , Humans , Congenital Disorders of Glycosylation/genetics , Congenital Disorders of Glycosylation/diagnosis , Congenital Disorders of Glycosylation/pathology , Female , Male , Cardiomyopathies/genetics , Cardiomyopathies/diagnosis , Child , Child, Preschool , Adolescent , Infant , Glycosylation , Follow-Up Studies , Adult , Retrospective Studies , Young Adult , Prospective Studies , Infant, NewbornABSTRACT
The mechanisms that negatively regulate inflammation upon a pathogenic stimulus are crucial for the maintenance of tissue integrity and organ function. T regulatory cells are one of the main drivers in controlling inflammation. The ability of T regulatory cells to adapt to different inflammatory cues and suppress inflammation is one of the relevant features of T regulatory cells. During this process, T regulatory cells express different transcription factors associated with their counterparts, Th helper cells, including Tbx21, GATA-3, Bcl6, and Rorc. The acquisition of this transcription factor helps the T regulatory cells to suppress and migrate to the different inflamed tissues. Additionally, the T regulatory cells have different mechanisms that preserve stability while acquiring a particular T regulatory cell subtype. This review focuses on describing T regulatory cell subtypes and the mechanisms that maintain their identity in health and diseases.
Subject(s)
Cell Plasticity , T-Lymphocytes, Regulatory , Humans , T-Lymphocytes, Regulatory/immunology , Animals , Cell Plasticity/immunology , Inflammation/immunology , Inflammation/pathologyABSTRACT
Eating disorders are psychiatric and behavioral health pathologies of high complexity and different etiology, which can affect age groups, sexes, and ethnicities indistinctly. This study aimed to evaluate the risk of eating disorders and the possible relation with the sports profile of Colombian adolescent athletes. This was an exploratory cross-sectional quantitative study that used an online form designed with a sociodemographic questionnaire and the EAT-26 scale to determine the eating disorder risk of the object population. A total of 354 adolescent athletes participated. There were 182 men and 172 women and the mean age was 15.59 (range: 10-19 years, SD = 1.938). The participants presented a significantly low risk of eating disorders (21.2%) with no differences in prevalence between both sexes. The risk of eating disorder was related to the result of the last competition (p = 0.01), the type of sport (p = 0.032), the years of sports practice (p = 0.004), and the number of training hours a day (p = 0.011). It is relevant to recognize that adolescents and athletes are vulnerable populations regarding eating disorders. In conclusion, adolescent athletes should be the object of special attention to prevent eating disorders and their consequences on health and sports performance.
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Abstract Background Recently, a new heart failure (HF) classification was made considering the left ventricular ejection fraction (LVEF) phenotype. Comprehensive assessments of the groups are required to guide patient management. Objective To determine the differences in sociodemographic, clinical, functional aerobic capacity, and health-related quality of life (HRQOL) variables in patients with HF classified with different LVEFs and to explore the correlations between the variables. Methods This work is a cross-sectional descriptive and correlational study. Three groups of patients with HF (LVEF≥50%, LVEF<40%, and LVEF40-49%) were compared. Sociodemographic, clinical variables and functional aerobic capacity with Sit to Stand (STS), 6-minute walk test (6MWT), Duke Activity Status Index (DASI), Minnesota Living with HF Questionnaire (MLFHQ), and Patient Health Questionnaire 9 (PHQ-9) were considered. The Chi-square test, one-way analysis of variance (ANOVA) test, and Spearman's correlation were used for statistical analysis. The statistical significance level was set at 5%. Results A total of 209 patients were admitted with a diagnosis of HF, with a more significant number of men. Marital status was a predominantly stable union in the HF with preserved ejection fraction (HFpEF) and HF with mid-range ejection fraction (HFmrEF) groups. A sedentary lifestyle was lower in the HF with reduced ejection fraction (HFrEF) group 59 (84.3%), p-value = 0.033, and the angina pectoris was higher in the HFpEF 30 (42.9%). Systolic blood pressure at the end of the 6MWT evidenced a higher score in HFpEF 132.0±17.25 concerning HFrEF 128.0±16.57, p-value=0.043. The fat percentage was higher in HFpEF 30.20±8.80 regarding the HFmrEF group 26.51±7.60, p-value = 0.028. Conclusion There were significant differences according to the LVEF classification in marital status, angina symptoms, fat percentage, and blood pressure at rest.
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A theoretical analysis of free Gibbs Energy and NMR 1H 13C chemical shifts of the effect of introduce methyl groups on diphenyl rings, to produce different isomers of (E)-1-(α,ê´-dimethylbenzylidene)-2,2-diphenylhydrazine, is presented. IR vibrational frequencies, Mulliken charges, molecular electrostatic potential (MEP), Gibbs free energy (G) and 1H- and 13C-NMR chemical shifts were obtained by theoretical calculations. In this analysis it was found that the position of the methyl group affects the values of the 1H- and 13C-NMR chemical shifts and the ∆G and ∆H thermodynamic properties of formation and reaction, these properties vary with the same trend, for the isomers studied. Gibbs free energy calculations show that the theoretical (E)-1-(3,4-Dimethylbenzylidene)-2,2-diphenylhydrazine isomer is the most stable, which explains the success of the experimental synthesis of this compound among the other isomers. For this molecule, the C of the HC=N group is the most nucleophilic and the H is the least acidic. The 1H-NMR chemical shifts of protons show a strong correlation with the C=N distance. It was also observed that methyl affects the ν(C=N) frequencies, the C=N distance increases when the inductive effect of the methyl groups is in the structure.
Subject(s)
Magnetic Resonance Imaging , Models, Theoretical , Magnetic Resonance Spectroscopy , Carbon Isotopes , Spectroscopy, Fourier Transform InfraredABSTRACT
Barton et al.1 raise several statistical concerns regarding our original analyses2 that highlight the challenge of inferring natural selection using ancient genomic data. We show here that these concerns have limited impact on our original conclusions. Specifically, we recover the same signature of enrichment for high FST values at the immune loci relative to putatively neutral sites after switching the allele frequency estimation method to a maximum likelihood approach, filtering to only consider known human variants, and down-sampling our data to the same mean coverage across sites. Furthermore, using permutations, we show that the rs2549794 variant near ERAP2 continues to emerge as the strongest candidate for selection (p = 1.2×10-5), falling below the Bonferroni-corrected significance threshold recommended by Barton et al. Importantly, the evidence for selection on ERAP2 is further supported by functional data demonstrating the impact of the ERAP2 genotype on the immune response to Y. pestis and by epidemiological data from an independent group showing that the putatively selected allele during the Black Death protects against severe respiratory infection in contemporary populations.
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Introducción: La autorregulación del aprendizaje se refiere a la modulación de los procesos afectivos, cognitivos y conductuales a lo largo de una experiencia de aprendizaje para alcanzar un nivel de logro deseado. Los estudiantes que tienen un mejor manejo de sus habilidades cognitivas y metacognitivas aprenden de una mejor forma que aquellos que no, por lo tanto, es fundamental estudiar a qué nivel los estudiantes universitarios son capaces de aprender a aprender y a ser gestores de su aprendizaje. Objetivos: Analizar la relación entre la autorregulación del aprendizaje y el rendimiento académico en estudiantes de la carrera medicina de tres universidades en el año 2022. Materiales y métodos: Esta investigación siguió un enfoque cuantitativo, el tipo de investigación fue observacional de tipo descriptivo. Se utilizó un instrumento previamente validado para identificar los tipos de autorregulación, la Autorregulación del Aprendizaje a partir de Textos (ARATEX-R). Resultados: No se encontró relación significativa entre el perfil académico de los estudiantes de medicina y el puntaje total del ARATEX-R. Al estudiar la relación entre las dimensiones de la autorregulación se encontró relación entre el rendimiento académico y la planificación y la gestión de la motivación, lo que implica que los que tienen mejores habilidades de planificación y que son capaces de gestionar su motivación tienen mejor rendimiento académico. Conclusión: Las principales dimensiones que caracterizan la autorregulación del aprendizaje en estudiantes de medicina fueron: gestión del contexto, gestión de la cognición y evaluación de la comprensión.
Introduction: Self-regulation of learning refers to the modulation of affective, cognitive and behavioral processes throughout a learning experience to reach a desired level of achievement. Students who have a better management of their cognitive and metacognitive skills learn in a better way than those who do not, therefore, it is essential to study at what level university students are capable of learning to learn and to be managers of their learning. Objectives: To analyze the relationship between self-regulation of learning and academic performance in medical students from three universities in the year 2022. Materials and methods: This research followed a quantitative approach; the type of research was observational and descriptive. A previously validated instrument was used to identify types of self-regulation, the Self-Regulation of Learning from Texts (ARATEX-R). Results: No significant relationship was found between the academic profile of medical students and the total ARATEX-R score. When studying the relationship between the dimensions of self-regulation, a relationship was found between academic performance and motivation planning and management, which implies that those who have better planning skills and who are able to manage their motivation have better academic performance. Conclusion: The main dimensions that characterize the self-regulation of learning in medical students were: context management, cognition management and comprehension evaluation.
Subject(s)
Academic Performance , Running , Students , Students, Medical , Universities , World Health Organization , Cognition , Self-Control , LearningABSTRACT
Academic success in adolescence is a strong predictor of well-being and health in adulthood. A healthy lifestyle and moderate/high levels of physical activity can influence academic performance. Therefore, we aimed to assess the relationship between the physical activity levels and body image and academic performance in public school adolescents. The sample consisted of 531 secondary school students in Porto (296 girls and 235 boys) aged between 15 and 20 years. The study variables and instruments were satisfaction with body image (The Body Image Rating Scale), assessment of physical activity (International Physical Activity Questionnaire for Adolescents (IPAQ-A), assessment of academic performance (academic achievement), school motivation (Academic Scale Motivation). The statistical analysis performed was descriptive analysis, an analysis of covariance, and a logistic regression. Regarding the results obtained, although there was no association between physical activity level and academic performance, it was observed in 10th grade students that the school average was higher for those practicing group or individual sports compared to students practicing artistic expression. Regarding the level of satisfaction with body image, we found different results in both genders. Our results support the importance of an active lifestyle, with the presence of regular physical activity being an important factor in improving academic performance.
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Guatemala is a multiethnic and multicultural country that has suffered from poverty and violence. Sports can serve as tool to foster development across the country; however, there is limited research on the use of sports as a tool for promoting broader social benefits in Guatemala. The purpose of this study was to compare sports and the health and physiological characteristics of at-risk youths in Guatemala. The research objectives were achieved through a quantitative approach and the participation of 90 youths involved in an educational organization through sports and 91 youths who have not been influenced by any organization. The results showed that urban at-risk youths involved in a sports for education organization develop more self-esteem; they have higher levels of physical activity than their peers who are not involved in an educational organization; the socioemotional competencies of self-regulation and motivation are higher in urban areas; empathy is higher in men than in women; the level of the self-perception of health is lower and health literacy higher. However, the at-risk youths who are not involved in an educational organization showed that their self-regulation was higher, and the level of health literacy was higher for all factors. This was through a set of attitudes and skills as a result of their historical development and sociocultural strategies transmitted from generation to generation to foster health and physical activity.
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RESUMEN Introducción: En este estudio, se examinó la idoneidad de seleccionar atletas élite desde una edad temprana. Objetivo: El objetivo de este estudio consistió en verificar si el comportamiento identificado en investigaciones antecedentes también ocurre entre los mejores atletas mundiales de todos los tiempos que compiten en la carrera de 100 metros. Materiales y métodos: Para ello, y con base en un análisis de las clasificaciones oficiales de todos los tiempos masculinos y femeninos de la Asociación Internacional de Federaciones de atletismo en la referida prueba, se utilizó muestras en categoría absoluta (Top-1,000 hasta el 31/12/2018) y categoría sub-20 (Top-100 hasta el 31/12/2003); se aplicaron leyes de potencia y otras estrategias típicas de los sistemas complejos para analizar los datos. Resultados: los resultados muestran cómo, con demasiada frecuencia, los mejores corredores masculinos y femeninos del mundo en la categoría sub-20 no evolucionan positivamente durante el resto de su carrera deportiva mejorando sus registros en las categorías superiores. Solo 51 hombres de los 100 mejores corredores sub-20 de todos los tiempos, lograron mejorar sus registros una vez que alcanzaron la categoría sénior, y las mejoras no presentaron siempre progresiones estadísticamente significativas. En consecuencia, una inversión excesiva en recursos humanos y materiales para identificar individuos con altas capacidades atléticas, no es siempre la mejor estrategia. Conclusiones: el deporte de nivel a edades tempranas puede ser un error metodológico que debe evitarse a la hora de construir las reservas deportivas de un país o federación deportiva.
RESUMO Introdução: Neste estudo, examinou-se a adequação da seleção de atletas de elite desde tenra idade. Objetivo: O objetivo deste estudo foi verificar se o comportamento identificado em pesquisas anteriores também ocorre entre os melhores atletas do mundo de todos os tempos que competem na prova de 100 metros. Materiais e métodos: Para isso, e com base na análise das classificações oficiais de todos os tempos para homens e mulheres da Associação Internacional de Federações de Atletismo na prova supracitada, foram utilizadas amostras em categoria absoluta (Top-1.000 até 31/12 /2018) e sub-20 (Top-100 até 31/12/2003); Leis de potência e outras estratégias típicas de sistemas complexos foram aplicadas para analisar os dados. Resultados: Os resultados mostram como, muitas vezes, os melhores corredores masculinos e femininos do mundo na categoria sub-20 não evoluem positivamente durante o resto de sua carreira esportiva, melhorando seus registros nas categorias superiores. Apenas 51 homens dos 100 melhores corredores sub-20 de todos os tempos conseguiram melhorar seus tempos quando chegaram à categoria sênior, e as melhorias nem sempre mostraram progressões estatisticamente significativas. Consequentemente, um investimento excessivo em recursos humanos e materiais para identificar indivíduos com altas habilidades atléticas nem sempre é a melhor estratégia. Conclusões: o esporte de nível em idade precoce pode ser um erro metodológico que deve ser evitado na construção das reservas esportivas de um país ou federação esportiva.
ABSTRACT Introduction: In this study, the suitability of selecting elite athletes from an early age was examined. Objective: The objective of this study was to verify if the behavior identified in previous research also occurs among the world's best athletes of all time who compete in the 100-meter race. Materials and methods: For this, and based on an analysis of the official classifications of all times for men and women of the International Association of Athletics Federations in the referred test, samples were used in absolute category (Top-1,000 up to the 12/31/2018) and sub -20 category (Top - 100 until 12/31/2003); power laws and other strategies typical of complex systems will be applied to analyze the data. Results: The results show how, all too often, the best male and female runners in the world in the under-20 category do not evolve positively during the rest of their sports career. improving their records in the higher categories. Only 51 men out of the top 100 U-20 runners of all time managed to improve their times once they reached the senior category, and the improvements did not always show statistically significant progressions. Consequently, an excessive investment in human and material resources to identify individuals with high athletic abilities is not always the best strategy. Conclusions: level sport at an early age can be a methodological error that should be avoided when building the sports reserves of a country or sports federation.
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Aim: We analyze the impact of the COVID-19 pandemic on oncology service demand in a middle-income country with universal health coverage. Methods: We collected data from January 1st-2017 to December 31th-2021 at a reference center in Bogotá-Colombia regarding first-time consultations of cross-cutting services (clinical oncology, hematology, palliative care, radiation oncology); specialized multidisciplinary units (breast, prostate, lung, stomach); inpatient and outpatient systemic therapy; radiotherapy; oncology surgery; and bone marrow transplant. A descriptive time series analysis was performed, estimating monthly percent change and endemic channels. Results: Starting the confinement (April 2020), a general decrease in service demand was observed (R: -14.9% to -90.0%), with an additional but lower decrease in August 2020 coinciding with the first pandemic wave (R: -11.3% to -70.0%). Follow-up visits and ambulatory treatment showed no consistent reductions. New patients' consultations for cross-cutting services had a speedy recovery (1 month), but clinical oncology, specialized units, and in-hospital treatment resumed more slowly. Only breast and stomach cancer showed a sustained reduction in early-stage disease. Women and older patients had a more significant reductionin service demand. Conclusion: Despite no changes in service supply, the confinement induced a significant reduction in service demand. Variations by cancer type, service type, and population demographics deserve careful consideration for a suitable response to the emergency. The speedy recovery and the absence of a significant decrease during subsequent waves of the pandemic suggest patient resiliency and a lower impact than expected in middle-income settings in the presence of universal health insurance.
Objetivo: Analizar el impacto de la pandemia de COVID-19 sobre la demanda de servicios oncológicos. Metodos: Se recolectaron datos de enero 1/2017 hasta diciembre 31/2021 de consulta de primera vez en servicios transversales (oncología clinica, hematología, cuidados paliativos, oncología radioterápica) y servicios especializados multidisciplinarios (mama, próstata, pulmón, estómago), así como de suministro de tratamiento (terapia sistémica ambulatoria y hospitalaria, radioterapia, cirugía oncológica, trasplante de médula ósea), en un centro de referencia en Bogotá-Colombia. Se realizó un análisis descriptivo de series de tiempo estimando el cambio porcentual mensual y los canales endémicos. Resultados: Al inicio del confinamiento obligatorio (abril/2020) hubo una disminución general en la demanda de servicios transversales (R: -14.9% a -90.0%), con nuevo descenso de menor grado en agosto/2020 durante la primera ola de infecciones (R: -11.3% a -70.0%). Las consultas de seguimiento y tratamientos ambulatorios no mostraron reducciones consistentes. Exceptuando oncología clínica, las consultas de primera vez para servicios transversales tuvieron rápida recuperación hasta cifras basales (1 mes), pero las unidades especializadas y los tratamientos intrahospitalarios tuvieron recuperación mas lenta. Únicamente los cánceres de mama y estómago mostraron una reduccion sostenida de estadios tempranos de la enfermedad. La reducción de la demanda fue mas marcada en mujeres y adultos mayores. Conclusión: A pesar de no tener cambios en la oferta, el confinamiento indujo una reducción significativa en la demanda de servicios oncológicos con variación diferencial por tipo de cáncer, servicio y características demográficas de la población. Esto merece consideración especial para generar respuestas adecuadas a las emergencias sanitarias. La rápida recuperación de la demanda y la ausencia de caídas en olas de infección subsiguientes sugieren resiliencia de los pacientes e impacto menor del esperado en países con cobertura de salud universal.
Subject(s)
COVID-19 , Neoplasms , Male , Humans , Female , Universal Health Insurance , COVID-19/epidemiology , Pandemics , Palliative Care , Neoplasms/epidemiology , Neoplasms/therapyABSTRACT
Infectious diseases are among the strongest selective pressures driving human evolution1,2. This includes the single greatest mortality event in recorded history, the first outbreak of the second pandemic of plague, commonly called the Black Death, which was caused by the bacterium Yersinia pestis3. This pandemic devastated Afro-Eurasia, killing up to 30-50% of the population4. To identify loci that may have been under selection during the Black Death, we characterized genetic variation around immune-related genes from 206 ancient DNA extracts, stemming from two different European populations before, during and after the Black Death. Immune loci are strongly enriched for highly differentiated sites relative to a set of non-immune loci, suggesting positive selection. We identify 245 variants that are highly differentiated within the London dataset, four of which were replicated in an independent cohort from Denmark, and represent the strongest candidates for positive selection. The selected allele for one of these variants, rs2549794, is associated with the production of a full-length (versus truncated) ERAP2 transcript, variation in cytokine response to Y. pestis and increased ability to control intracellular Y. pestis in macrophages. Finally, we show that protective variants overlap with alleles that are today associated with increased susceptibility to autoimmune diseases, providing empirical evidence for the role played by past pandemics in shaping present-day susceptibility to disease.
Subject(s)
DNA, Ancient , Genetic Predisposition to Disease , Immunity , Plague , Selection, Genetic , Yersinia pestis , Humans , Aminopeptidases/genetics , Aminopeptidases/immunology , Plague/genetics , Plague/immunology , Plague/microbiology , Plague/mortality , Yersinia pestis/immunology , Yersinia pestis/pathogenicity , Selection, Genetic/immunology , Europe/epidemiology , Europe/ethnology , Immunity/genetics , Datasets as Topic , London/epidemiology , Denmark/epidemiologyABSTRACT
BACKGROUND: Anxiety is one of the most complex and the most studied constructs in psychology, and it is extremely frequent in high-level sportsmen and women. The main goal was to study the influence of sex, age, type of sport, sport modality, other professional occupation, and competitive level on the competitive anxiety symptoms and self-confidence of elite athletes. METHODS: A descriptive cross-sectional study was carried out with Colombian elite athletes who were members of the "Support to the Excellence Coldeportes Athlete" program. The total population studied included 334 Colombian elite athletes: mean age 27.10 ± 6.57 years old with 13.66 ± 6.37 years practicing his/her sports modality. The precompetitive anxiety symptoms of the participants were assessed using the Competitive State Anxiety Inventory-2R (CSAI-2R). RESULTS: Men showed higher levels of self-confidence than women. Younger athletes had a higher cognitive and somatic anxiety. The athletes of individual sports had a higher mean somatic anxiety than those of collective sports. The higher-level athletes had lower values of cognitive and somatic anxiety and higher levels of self-confidence. Finally, the values of anxiety symptoms positively correlated with each other, and negatively correlated with self-confidence. CONCLUSION: Individualised psychological intervention programs adapted to elite athletes are needed, considering the divergent results found in various variables of scientific interest.
Subject(s)
Athletes , Competitive Behavior , Adult , Anxiety/psychology , Athletes/psychology , Colombia , Cross-Sectional Studies , Female , Humans , Male , Young AdultABSTRACT
[This corrects the article DOI: 10.3389/fimmu.2017.00441.].
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This article presents guidelines for initial imaging utilization in patients presenting with sinonasal disease, including acute rhinosinusitis without and with suspected orbital and intracranial complications, chronic rhinosinusitis, suspected invasive fungal sinusitis, suspected sinonasal mass, and suspected cerebrospinal fluid leak. CT and MRI are the primary imaging modalities used to evaluate patients with sinonasal disease. Given its detailed depiction of bony anatomy, CT can accurately demonstrate the presence of sinonasal disease, bony erosions, and anatomic variants, and is essential for surgical planning. Given its superior soft tissue contrast, MRI can accurately identify clinically suspected intracranial and intraorbital complications, delineate soft tissue extension of tumor and distinguish mass from obstructed secretions.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
Subject(s)
Sinusitis , Societies, Medical , Humans , Magnetic Resonance Imaging/methods , Sinusitis/diagnostic imaging , United StatesABSTRACT
Abstract Aim: We analyze the impact of the COVID-19 pandemic on oncology service demand in a middle-income country with universal health coverage. Methods: We collected data from January 1st-2017 to December 31th-2021 at a reference center in Bogotá-Colombia regarding first-time consultations of cross-cutting services (clinical oncology, hematology, palliative care, radiation oncology); specialized multidisciplinary units (breast, prostate, lung, stomach); inpatient and outpatient systemic therapy; radiotherapy; oncology surgery; and bone marrow transplant. A descriptive time series analysis was performed, estimating monthly percent change and endemic channels. Results: Starting the confinement (April 2020), a general decrease in service demand was observed (R: -14.9% to -90.0%), with an additional but lower decrease in August 2020 coinciding with the first pandemic wave (R: -11.3% to -70.0%). Follow-up visits and ambulatory treatment showed no consistent reductions. New patients' consultations for cross-cutting services had a speedy recovery (1 month), but clinical oncology, specialized units, and in-hospital treatment resumed more slowly. Only breast and stomach cancer showed a sustained reduction in early-stage disease. Women and older patients had a more significant reductionin service demand. Conclusion: Despite no changes in service supply, the confinement induced a significant reduction in service demand. Variations by cancer type, service type, and population demographics deserve careful consideration for a suitable response to the emergency. The speedy recovery and the absence of a significant decrease during subsequent waves of the pandemic suggest patient resiliency and a lower impact than expected in middle-income settings in the presence of universal health insurance.
Resumen Objetivo: Analizar el impacto de la pandemia de COVID-19 sobre la demanda de servicios oncológicos. Metodos: Se recolectaron datos de enero 1/2017 hasta diciembre 31/2021 de consulta de primera vez en servicios transversales (oncología clinica, hematología, cuidados paliativos, oncología radioterápica) y servicios especializados multidisciplinarios (mama, próstata, pulmón, estómago), así como de suministro de tratamiento (terapia sistémica ambulatoria y hospitalaria, radioterapia, cirugía oncológica, trasplante de médula ósea), en un centro de referencia en Bogotá-Colombia. Se realizó un análisis descriptivo de series de tiempo estimando el cambio porcentual mensual y los canales endémicos. Resultados: Al inicio del confinamiento obligatorio (abril/2020) hubo una disminución general en la demanda de servicios transversales (R: -14.9% a -90.0%), con nuevo descenso de menor grado en agosto/2020 durante la primera ola de infecciones (R: -11.3% a -70.0%). Las consultas de seguimiento y tratamientos ambulatorios no mostraron reducciones consistentes. Exceptuando oncología clínica, las consultas de primera vez para servicios transversales tuvieron rápida recuperación hasta cifras basales (1 mes), pero las unidades especializadas y los tratamientos intrahospitalarios tuvieron recuperación mas lenta. Únicamente los cánceres de mama y estómago mostraron una reduccion sostenida de estadios tempranos de la enfermedad. La reducción de la demanda fue mas marcada en mujeres y adultos mayores. Conclusión: A pesar de no tener cambios en la oferta, el confinamiento indujo una reducción significativa en la demanda de servicios oncológicos con variación diferencial por tipo de cáncer, servicio y características demográficas de la población. Esto merece consideración especial para generar respuestas adecuadas a las emergencias sanitarias. La rápida recuperación de la demanda y la ausencia de caídas en olas de infección subsiguientes sugieren resiliencia de los pacientes e impacto menor del esperado en países con cobertura de salud universal.
ABSTRACT
Chimeric antigen receptor (CAR) T-cell therapy can induce durable remissions of relapsed/refractory B-acute lymphoblastic leukemia (ALL). However, case reports suggested differential outcomes mediated by leukemia cytogenetics. We identified children and young adults with relapsed/refractory CD19+ ALL/lymphoblastic lymphoma treated on 5 CD19-directed CAR T-cell (CTL019 or humanized CART19) clinical trials or with commercial tisagenlecleucel from April 2012 to April 2019. Patients were hierarchically categorized according to leukemia cytogenetics: High-risk lesions were defined as KMT2A (MLL) rearrangements, Philadelphia chromosome (Ph+), Ph-like, hypodiploidy, or TCF3/HLF; favorable as hyperdiploidy or ETV6/RUNX1; and intermediate as iAMP21, IKZF1 deletion, or TCF3/PBX1. Of 231 patients aged 1 to 29, 74 (32%) were categorized as high risk, 28 (12%) as intermediate, 43 (19%) as favorable, and 86 (37%) as uninformative. Overall complete remission rate was 94%, with no difference between strata. There was no difference in relapse-free survival (RFS; P = .8112), with 2-year RFS for the high-risk group of 63% (95% confidence interval [CI], 52-77). There was similarly no difference seen in overall survival (OS) (P = .5488), with 2-year OS for the high-risk group of 70% (95% CI, 60-82). For patients with KMT2A-rearranged infant ALL (n = 13), 2-year RFS was 67% (95% CI, 45-99), and OS was 62% (95% CI, 40-95), with multivariable analysis demonstrating no increased risk of relapse (hazard ratio, 0.70; 95% CI, 0.21-2.90; P = .7040) but a higher proportion of relapses associated with myeloid lineage switch and a 3.6-fold increased risk of all-cause death (95% CI, 1.04-12.75; P = .0434). CTL019/huCART19/tisagenlecleucel are effective at achieving durable remissions across cytogenetic categories. Relapsed/refractory patients with high-risk cytogenetics, including KMT2A-rearranged infant ALL, demonstrated high RFS and OS probabilities at 2 years.
Subject(s)
Immunotherapy, Adoptive , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Antigens, CD19 , Child , Cytogenetic Analysis , Humans , Infant , Philadelphia Chromosome , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Receptors, Antigen, T-Cell/therapeutic use , Recurrence , Young AdultABSTRACT
Neoplasms of the salivary glands are characterized by their marked histologic diversity giving them nonspecific imaging findings. MR imaging is the best imaging modality to evaluate salivary gland tumors. Multiparametric MR imaging combines conventional imaging features, diffusion-weighted imaging, and perfusion imaging to help distinguish benign and low-grade neoplasms from malignant tumors; however, a biopsy is often needed to establish a definitive histopathologic diagnosis. An awareness of potential imaging pitfalls is important to prevent mistakes in salivary neoplasm imaging.
Subject(s)
Magnetic Resonance Imaging , Salivary Gland Neoplasms , Diffusion Magnetic Resonance Imaging , Humans , Perfusion Imaging , Salivary Gland Neoplasms/diagnostic imagingABSTRACT
BACKGROUND: The aims of this study were to analyze the effects of the COVID-19 pandemic and its subsequent confinement on behaviors, perception of threat, stress, state of mind and training patterns among Olympic and Paralympic level athletes. METHODS: Data gathering was performed utilizing an online questionnaire during imposed confinement. A correlational design with incidental sampling for convenience was used. All the variables were analyzed by age, gender, academic training, type of participation and sport specialty on a population composed of 447 Olympic (age: 26.0 ± 7.5 years) and 64 Paralympic (age: 28.4 ± 10.5 years) athletes. RESULTS: The athletes trained more than twice as many hours before than during confinement. Most of the athletes recognized that their best athletic performance diminished due to the COVID-19 confinement but that will recover after the pandemic and its confinements. Almost half of the athletes declared they were more tired than normal and had difficulty sleeping, while more than half ate more or less as usual. Paralympic athletes reported they felt more capable to cope with personal problems and life events and felt less lonely during the confinement than the Olympians. The athletes from team sports reported to be more affected in their training routine than athletes of individual sports, seeing their athletic performance more affected. Athletes in individual sports felt more able to cope with personal problems than athletes in team sports. Female athletes were significantly more tired and reported more difficulty sleeping than male athletes. CONCLUSION: The situation caused by COVID-19 has had significant effects on the behavior, perception of threat, stress and training patterns of Olympic and Paralympic athletes preparing for the 2020 Tokyo Olympics. It is necessary that sports institutions reinforce mechanisms of help for athletes during future situations of confinement.
Subject(s)
Athletic Performance , COVID-19 , Para-Athletes , Adolescent , Adult , Female , Humans , Male , Pandemics , Perception , SARS-CoV-2 , Young AdultABSTRACT
Recently, the so-called Semenya case has brought the problem of gender in sports competitions back into the spotlight. But the fact is that it is not a unique case; rather, it seems a recurrent and inconclusive problem in the history of sports. In this context, the Spanish athlete Martínez-Patiño is an important figure in the history of sport and gender verification, as well as the Indian sprinter Dutee Chand. Martínez-Patiño's story thus serves as an important case study of the gender-based anxieties that hampered women's advancement in track and field. Martínez-Patiño's experience in Spanish athletics demonstrates the difficulties women faced when attempting to compete in track and field, both in Spain and internationally. Moreover, her experience with gender policies shows the inadequacies of the chromosomal check as a sex marker, as well as the harms caused by the technique. Finally, Martínez-Patiño's protest of the International Association of Athletics Federations' policy started to dismantle compulsory sex verification used as a criterion for gender eligibility. The publicity surrounding her case pushed the track and field federation to abandon mandatory, on-site testing in 1992. Seven years later, the International Olympic Committee also dropped its compulsory control. Martínez-Patiño became the face of the fight against sex/gender verification in sport and helped dismantle the practice. The case of Martinez-Patiño remains in the collective memory of elite sports and serves as an argument for national and international sporting institutions to reconsider discriminating policies in the context of progress being made for women's rights.