COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity.

Patients with inborn errors of immunity (IEI) in Argentina were encouraged to receive licensed Sputnik, AstraZeneca, Sinopharm, Moderna, and Pfizer vaccines, even though most of the data of humoral and cellular responses combination on available vaccines comes from trials conducted in healthy individuals. We aimed to evaluate the safety and immunogenicity of the different vaccines in IEI patients in Argentina. The study cohort included adults and pediatric IEI patients (n = 118) and age-matched healthy controls (HC) (n = 37). B cell response was evaluated by measuring IgG anti-spike/receptor binding domain (S/RBD) and anti-nucleocapsid(N) antibodies by ELISA. Neutralization antibodies were also assessed with an alpha-S protein-expressing pseudo-virus assay. The T cell response was analyzed by IFN-γ secretion on S- or N-stimulated PBMC by ELISPOT and the frequency of S-specific circulating T follicular-helper cells (TFH) was evaluated by flow cytometry.No moderate/severe vaccine-associated adverse events were observed. Anti-S/RBD titers showed significant differences in both pediatric and adult IEI patients versus the age-matched HC cohort (p < 0.05). Neutralizing antibodies were also significantly lower in the patient cohort than in age-matched HC (p < 0.01). Positive S-specific IFN-γ response was observed in 84.5% of IEI patients and 82.1% presented S-specific TFH cells. Moderna vaccines, which were mainly administered in the pediatric population, elicited a stronger humoral response in IEI patients, both in antibody titer and neutralization capacity, but the cellular immune response was similar between vaccine platforms. No difference in humoral response was observed between vaccinated patients with and without previous SARS-CoV-2 infection.In conclusion, COVID-19 vaccines showed safety in IEI patients and, although immunogenicity was lower than HC, they showed specific anti-S/RBD IgG, neutralizing antibody titers, and T cell-dependent cellular immunity with IFN-γ secreting cells. These findings may guide the recommendation for a vaccination with all the available vaccines in IEI patients to prevent COVID-19 disease.

Treatment of benign tumours and related pathologies with radiotherapy: experience of the General Hospital of Mexico.

Background: Benign diseases include tumours or localized growths with low potential for progression. The use of radiotherapy (RT) at a low dose (LD) or intermediate dose for benign pathologies has been widely proposed and studied. Currently, the use of RT is limited mainly to hyperproliferative and inflammatory diseases as a first or second line of treatment. Materials and methods: This was a retrospective, observational and descriptive study conducted in the Radiotherapy Unit of the Oncology Service of the General Hospital of Mexico "Dr. Eduardo Liceaga" from January 2, 2016, to December 31, 2020. Patients diagnosed with benign pathology and treated with RT were included. The response to treatment was recorded based on the imaging study report and/or clinical review that determined control of the disease, and toxicity was recorded based on the RTOG evaluation for acute effects and CTCAE V. 4.0 for chronic effects. Results: The records of 222 patients were analysed. The mean follow-up duration was 31.53 months (range 6-61), and the median was 24 months. Of all of the analysed pathologies that were treated with RT, keloid scars predominated in 112 patients (50.5%), and paragangliomas predominated in 72 patients (32.4%); the other patients were treated for rare pathologies. The prescribed dose was dependent on the diagnosis, with the mean dose being 31.63 Gy (1500-6000 cGy) and the median being 2000 cGy. Most of the cases of acute and chronic toxicity were grades 1 and 2, and a disease response was achieved in 94.1% of the patients. Conclusion: Our series shows that for cases of benign pathology, RT offers acceptable toxicity, improves quality of life and yields a good response, achieving disease control. These results suggest the inclusion of inflammatory pathology among the indications for treatment.

Inmunodeficiencias humorales en pacientes adultos. Cuatro décadas de seguimiento / Antibody deficiencies in adults. Forty years of follow up

Resumen Las inmunodeficiencias humorales (IDH) comprenden un grupo de enfermedades caracterizadas por una deficiente respuesta mediada por anticuerpos. Se clasifican en primarias (IDHP), causa das por defectos propios del sistema inmune, o secundarias (IDHS) a otras enfermedades o fármacos. Nuestro objetivo fue revisar la evolución de las IDH asistidas en la Unidad Inmunología del Hospital Durand entre 1982 y 2020, dividido en dos periodos, Periodo I (1982-2009) y Periodo II (2010-2020); para evaluar el crecimiento de éstas, sus características epidemiológicas y las formas de tratamiento. Se evaluaron 205 pacientes, 176 (85.8%) IDHP y 29 (14.2%) IDHS. Las IDHP más diagnosticadas fueron: inmunodeficiencia común variable en 104 (59%) pacientes, agammaglobulinemia ligada al cromosoma X en 17 (9.6%) y deficiencia selectiva de IgA en 26 (14.8%). En 25 (14.2%) IDHP se realizó un diagnóstico molecular. Las causas de IDHS fueron: secundaria a rituximab en 21 (72.4%) pacientes, enfermedades hematológicas en tres (10.2%) y fármacos antiepilépticos en tres. Un total de 161 (78.5%) pacientes recibieron gammaglobulina, 140 (87%) IDHP y 21 (13%) IDHS; 152 (94.4%) fueron tratados con gammaglobulina endovenosa y nueve (5.6%) con gammaglobulina subcutánea. De los tratados inicialmente con forma endovenosa, 30 (19.7%) cambiaron a subcutánea. El crecimiento en la can tidad de pacientes entre ambos periodos del estudio fue mayor al 250%, y al 700% en pacientes incorporados por año. El crecimiento de las IDHS con relación al de las IDHP fue más del doble. Al finalizar el estudio 125 pacientes continuaban en seguimiento, 80% IDHP y 20% IDHS, y 14 fallecieron.

Abstract Antibody deficiencies (AD) are characterized by low or absent immunoglobulin levels or the inability to develop a specific antibody response. They are classified in primary (PAD) when there is an intrinsic immune defect, or secondary (SAD) to other dis eases or drugs. The aim of our study was to review the evolutio n of AD assisted at the Immunology Unit, Hospital Durand between 1982 and 2020, divided into two periods: Period I (1982-2009) and Period II (2010-2020); to evaluate their growth, epidemiologic features and treatment options. A total of 205 patients were identified, 176 (85.8%) with PAD and 29 (14.2%) with SAD. The most frequent PAD were common variable immunodeficiency in 104 (59%) patients, X linked agammaglobulinemia in 17 (9.6%) and selective IgA deficiency in 26 (14.8%). Genetic defects were found in 25 (14.2%) patients with PAD. SAD cases were associated with rituximab in 21 (72.4%) subjects, haematological disease in three (10.2%) and with antiepileptic drugs in other three; 161 (78.5%) patients were treated with immunoglobulins, 140 (87%) PAD y 21 (13%) SAD; 152 (94.4%) received intravenous immunoglobulins and nine (5.6%) subcutaneous immunoglobulins. Thirty (19.7%) patients treated at first with intravenous immunoglobulins changed to subcutaneous formulations. The increase in number of patients between both periods was greater than 250%, and more than 700% in patients added per year. SAD growth was greater than twice times comparing with PAD. By the end of the study 125 patients continued in follow up, 80% PAD y 20% SAD and 14 died.

[Antibody deficiencies in adults. Forty years of follow up]. / Inmunodeficiencias humorales en pacientes adultos. Cuatro décadas de seguimiento.

Antibody deficiencies (AD) are characterized by low or absent immunoglobulin levels or the inability to develop a specific antibody response. They are classified in primary (PAD) when there is an intrinsic immune defect, or secondary (SAD) to other diseases or drugs. The aim of our study was to review the evolutio n of AD assisted at the Immunology Unit, Hospital Durand between 1982 and 2020, divided into two periods: Period I (1982-2009) and Period II (2010-2020); to evaluate their growth, epidemiologic features and treatment options. A total of 205 patients were identified, 176 (85.8%) with PAD and 29 (14.2%) with SAD. The most frequent PAD were common variable immunodeficiency in 104 (59%) patients, X linked agammaglobulinemia in 17 (9.6%) and selective IgA deficiency in 26 (14.8%). Genetic defects were found in 25 (14.2%) patients with PAD. SAD cases were associated with rituximab in 21 (72.4%) subjects, haematological disease in three (10.2%) and with antiepileptic drugs in other three; 161 (78.5%) patients were treated with immunoglobulins, 140 (87%) PAD y 21 (13%) SAD; 152 (94.4%) received intravenous immunoglobulins and nine (5.6%) subcutaneous immunoglobulins. Thirty (19.7%) patients treated at first with intravenous immunoglobulins changed to subcutaneous formulations. The increase in number of patients between both periods was greater than 250%, and more than 700% in patients added per year. SAD growth was greater than twice times comparing with PAD. By the end of the study 125 patients continued in follow up, 80% PAD y 20% SAD and 14 died.

Las inmunodeficiencias humorales (IDH) comprenden un grupo de enfermedades caracterizadas por una deficiente respuesta mediada por anticuerpos. Se clasifican en primarias (IDHP), causadas por defectos propios del sistema inmune, o secundarias (IDHS) a otras enfermedades o fármacos. Nuestro objetivo fue revisar la evolución de las IDH asistidas en la Unidad Inmunología del Hospital Durand entre 1982 y 2020, dividido en dos periodos, Periodo I (1982-2009) y Periodo II (2010-2020); para evaluar el crecimiento de éstas, sus características epidemiológicas y las formas de tratamiento. Se evaluaron 205 pacientes, 176 (85.8%) IDHP y 29 (14.2%) IDHS. Las IDHP más diagnosticadas fueron: inmunodeficiencia común variable en 104 (59%) pacientes, agammaglobulinemia ligada al cromosoma X en 17 (9.6%) y deficiencia selectiva de IgA en 26 (14.8%). En 25 (14.2%) IDHP se realizó un diagnóstico molecular. Las causas de IDHS fueron: secundaria a rituximab en 21 (72.4%) pacientes, enfermedades hematológicas en tres (10.2%) y fármacos antiepilépticos en tres. Un total de 161 (78.5%) pacientes recibieron gammaglobulina, 140 (87%) IDHP y 21 (13%) IDHS; 152 (94.4%) fueron tratados con gammaglobulina endovenosa y nueve (5.6%) con gammaglobulina subcutánea. De los tratados inicialmente con forma endovenosa, 30 (19.7%) cambiaron a subcutánea. El crecimiento en la cantidad de pacientes entre ambos periodos del estudio fue mayor al 250%, y al 700% en pacientes incorporados por año. El crecimiento de las IDHS con relación al de las IDHP fue más del doble. Al finalizar el estudio 125 pacientes continuaban en seguimiento, 80% IDHP y 20% IDHS, y 14 fallecieron.

Changes in Metabolic Regulation and the Microbiota Composition after Supplementation with Different Fatty Acids in db/db Mice.

INTRODUCTION: The effects of fatty acids on health vary and depend on the type, amount, and route of consumption. EPA and DHA have a defined role in health, unlike coconut oil. OBJECTIVE: The aim was to investigate the changes in metabolic regulation and the composition of the culture-dependent microbiota after supplementation with different fatty acids in db/db mice. Material and Methods. We were using 32 8-week-old db/db mice, supplemented for eight weeks with EPA/DHA derived from microalgae as well as coconut oil. The lipid, hormonal profiles, and composition of the culture-dependent microbiota and the phylogenetic analysis based on the 16S rRNA gene sequencing were determined for identification of the intestinal microbiota. RESULTS: Enriched diet with EPA/DHA reduced TNF-α, C-peptide, insulin resistance, resistin, and the plasma atherogenic index, but increased TC, LDL-c, VLDL-c, and TG without changes in HDL-c. Coconut oil raised the HDL-c, GIP, and TNF-α, with TG, insulin resistance, adiponectin, and C-peptide reduced. CONCLUSION: The most abundant microbial populations were Firmicutes and the least Proteobacteria. EPA/DHA derived from microalgae contributes to improving the systemic inflammatory status, but depressed the diversity of the small intestine microbiota. Coconut oil only decreased the C-peptide, raising TNF-α, with an unfavorable hormonal and lipid profile.

Relação entre a depressão e o apoio social percebido nos estudantes de enfermagem no contexto de comportamentos suicidas / The relation between depression and perceived social support in nursing students in the context of suicidal behaviors / Relación depresión y apoyo social percibido en estudiantes de enfermería en el contexto de conductas suicidas

RESUMO Objetivo determinar a relação entre a depressão e o apoio social percebido nos estudantes de enfermagem no contexto de comportamentos suicidas. Método análise secundária de dados de um estudo anterior. Amostra do censo dos estudantes de enfermagem na Costa Rica. Coleta de dados realizada por LimeSurvey during 2020 por meio de questionário autoadministrado composto por seção de dados sociodemográficos, inventário de depressão Beck-II e escala multidimensional de apoio social percebido. Foram utilizadas a análise descritiva e a correlação de Pearson. Resultados A maioria era do sexo feminino (79,5%), com idade média de 22,15 anos; 85,8% referiram depressão ligeira a mínima; 92,2% referiram elevado apoio social percebido. Foi identificada correlação inversa significativa entre o nível de depressão e a percepção do apoio social (r=-0,44, p<0,01). Conclusão Amplia-se a compreensão acerca das condições de saúde mental por parte da ciência da enfermagem para que se possa melhorar as práticas de cuidados em um grupo específico.

ABSTRACT Objective to determine the relationship between depression and perceived social support in nursing students in the context of suicidal behaviors. Method secondary analysis of data from a previous study. Sample from the census of nursing students in Costa Rica. Data collection performed by LimeSurvey during 2020 by means of self-administered questionnaire composed of sociodemographic data section, Beck-II depression inventory and multidimensional scale of perceived social support. Descriptive analysis and Pearson correlation were used. Results The majority were female (79.5%), with a mean age of 22.15 years; 85.8% reported mild to minimal depression; 92.2% reported high perceived social support. A significant inverse correlation was identified between level of depression and perceived social support (r=-0.44, p<0.01). Conclusion The understanding about mental health conditions by nursing science is broadened to improve care practices in a specific group.

RESUMEN Objetivo determinar la relación entre depresión y apoyo social percibido en estudiantes de enfermería en el contexto de las conductas suicidas. Método análisis secundario de datos de un estudio previo. Muestra censal en estudiantes de enfermería de Costa Rica. Recolección de datos realizada por LimeSurvey durante el 2020con una encuesta autoadministrada compuesta de sección de datos sociodemográficos, inventario de depresión de Beck-II y escala multidimensional de apoyo social percibido. Se utilizó análisis descriptivo y correlación de Pearson. Resultados la mayoría era del género femenino (79,5%), con un promedio de 22,15 años. El 85,8% manifestó un nivel mínimo-leve de depresión, el 92,2% evidenció un apoyo social percibido alto. Se identificó una correlación inversa significativa entre nivel de depresión y apoyo social percibido (r=-0.44, p<0.01). Conclusión se amplía la comprensión de condiciones de salud mental desde la ciencia de enfermería que podría mejorar las prácticas de cuidado en un grupo específico.

STAT3 gain-of-function mutation in an adult patient.

Germline gain-of-function (GOF) mutation of the signal transducer and activator of transcription 3 (STAT3) gene causes a disease clinically characterized by a significant lymphoproliferation, including lymphadenopathy and/or hepatosplenomegaly, as well as childhood onset autoimmunity. Here we present an adult patient who, during his early years of life, presented recurrent infections, autoimmune hemolytic anemia and benign lymphoproliferative disease, characterized by hepatosplenomegaly and lymphadenopathy, being diagnosed with common variable immunodeficiency (CVID) at 13 years of age. He was diagnosed with lymphocytic interstitial pneumonia at the age of 20. When he was 40 years old, after a diagnostic review, it was decided to perform genetic studies. A heterozygous mutation in STAT3 NM_003150 c.2141C>T, p.P714L was detected by whole exome sequencing and validated by Sanger. Previously published functional studies performed in two siblings showed that this mutation resulted in gain-of-function. They were initially diagnosed with autoimmune lymphoproliferative syndrome, and later with STAT3 GOF as a second genetic defect. Our patient developed severe pulmonary disease and died, without access to treatment targeted to his molecular defect due to the advanced nature of his pulmonary involvement and the fact that many of the therapies were still in development at that time. The diagnosis of STAT3 GOF mutations should be suspected in patients with early-onset of lymphoproliferative disease, autoimmunity and hypogammaglobulinemia. This must be considered especially in the group of CVID patients with these characteristics, in order to allow the implementation of treatments targeting the molecular defect (JAK inhibitors and Il-6 receptor antagonists) that could modify the disease evolution.

Mutaciones en línea germinal con ganancia de función (GOF) del gen transductor de señales y activador de la transcripción 3 (STAT3) provocan una enfermedad caracterizada por importante linfoproliferación, incluyendo linfadenopatías y/o hepatoesplenomegalia, así como autoinmunidad de inicio en la infancia. Presentamos un paciente adulto que, durante sus primeros años de vida, presentó infecciones recurrentes, anemia hemolítica autoinmune y enfermedad linfoproliferativa benigna, caracterizada inicialmente por hepatoesplenomegalia y linfoadenopatías, diagnosticado de inmunodeficiencia común variable (IDCV) a los 13 años. A los 20 años, al ser estudiado por compromiso pulmonar, se diagnosticó neumonía intersticial linfocítica. A los 40 años, tras revisión diagnóstica se decidió realizar estudios genéticos. Por secuenciación del exoma completo se detectó una mutación heterocigota en STAT3 NM_003150 c.2141C>T, p.P714L, que se validó por Sanger. Estudios funcionales previamente publicados realizados en dos hermanos con diagnóstico inicial de síndrome linfoproliferativo autoinmune, mostraron que esta mutación daba lugar a una ganancia de función. Nuestro paciente desarrolló enfermedad pulmonar grave y falleció a los 41 años, sin posibilidad de acceder a tratamiento dirigido a su defecto molecular por lo avanzado de su compromiso pulmonar y a que muchas de las terapias se encontraban en ese momento en desarrollo. El diagnóstico de mutaciones STAT3 GOF debe sospecharse en pacientes con enfermedad linfoproliferativa temprana, autoinmunidad e hipogammaglobulinemia. Esto debe ser considerado especialmente en pacientes con IDCV con estas carac terísticas, para permitir la implementación de tratamientos dirigidos al defecto molecular (inhibidores de JAK y antagonistas del receptor de Il-6) que podrían modificar la evolución de la enfermedad.

Autoeficacia, percepción de barreras y beneficios de la actividad física en estudiantes universitarios costarricenses / Self-effectiveness and perception of barriers and benefits of physical activity in Costa Rica universitary students

Resumen Ortega Muñoz, A., Fumero Pérez, S. y Solano López, A.L. (2021). Autoeficacia, percepción de barreras y beneficios de la actividad física en estudiantes universitarios costarricenses. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. Según la Teoría de Promoción de la Salud, aspectos como autoeficacia, percepción de beneficios y barreras podrían estar influyendo en la actividad física. En Costa Rica, se ha investigado poco este fenómeno en estudiantes universitarios de enfermería, por lo que el objetivo del estudio fue determinar la relación entre autoeficacia y percepción beneficios y barreras de la actividad física en estudiantes de Enfermería de la Universidad de Costa Rica. Esta investigación es un estudio de caso grupal, correlacional descriptivo. La muestra estuvo conformada por 42 estudiantes de segundo año de Enfermería. Los instrumentos utilizados fueron la Escala de Beneficios/Barreras para el ejercicio y la Escala de Autoeficacia para la actividad física. El análisis de datos se realizó mediante estadística descriptiva y la correlación de Pearson. Dentro de los resultados resalta que caminar obtuvo mayor autoeficacia, seguido de actividades de la vida diaria y, por último, el ejercicio físico programado. El estudiantado identifica más los beneficios de la actividad física que las barreras. Existe una asociación entre la autoeficacia total para la actividad física y la percepción de beneficios del ejercicio y la autoeficacia para el ejercicio programado y las barreras del ejercicio. Se debe trabajar en potenciar los beneficios de la actividad física, así como en crear intervenciones que ayuden a la población estudiantil de enfermería a superar las barreras por medio del fortalecimiento de la autoeficacia para la actividad física independientemente de su intensidad.

Abstract Ortega Muñoz, A., Fumero Pérez, S. & Solano López, A.L. (2021). Self-effectiveness and perception of barriers and benefits of physical activity in Costa Rican university students. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. According to Health Promotion Theory, factors such as self-effectiveness and the perception of benefits and barriers might be impacting physical activity. Since this phenomenon has been scarcely researched among nursing students, the purpose of this study has been to determine the relationship between self-effectiveness and perceived benefits and barriers of physical activity among nursing students at Universidad de Costa Rica. This research is a correlational, descriptive group case study. The sample was made up by 42 second-year students of the School of Nursing. The instruments used were the Scale of Benefits/Barriers for Exercise and the Self-Effectiveness Scale for Physical Activity. Data analysis was carried out through descriptive statistics and Pearson's correlation. The most outstanding result was that walking showed higher self-effectiveness, followed by daily life activities and finally scheduled physical exercise. The student community identifies the benefits of physical activities more easily than the barriers. An association exists between total self-effectiveness for physical activity and the perception of benefits of exercise and self-effectiveness for scheduled exercise and the barriers of exercise. Efforts must be made in enhancing the benefits of physical activity, as well as in creating interventions that will help nursing students to overcome barriers by strengthening self-effectiveness for physical activity, regardless of its intensity.

Resumo Ortega Muñoz, A., Fumero Pérez, S. e Solano López, A.L. (2021). Autoeficácia, percepção de barreiras e benefícios da atividade física entre universitários costarriquenhos. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. De acordo com a Teoria de Promoção da Saúde, aspectos como autoeficácia, percepção de benefícios e barreiras podem estar influenciando a atividade física. Na Costa Rica, pouca pesquisa tem sido feita em estudantes universitários de enfermagem, portanto, o objetivo do estudo foi determinar a relação entre a autoeficácia e a percepção dos benefícios e das barreiras da atividade física entre estudantes de enfermagem da Universidade da Costa Rica. Esta pesquisa é um estudo de caso em grupo correlacional descritivo. A amostra foi composta por 42 estudantes de enfermagem do segundo ano. Os instrumentos utilizados foram a Escala de Benefícios/Barreiras para o Exercício e a Escala de Autoeficácia para Atividade Física. A análise dos dados foi realizada por meio de estatística descritiva e correlação de Pearson. Dentre os resultados, destaca-se que a caminhada alcançou maior autoeficácia, seguida das atividades da vida diária e, por fim, exercício físico programado. Os estudantes identificam mais os benefícios da atividade física do que as barreiras. Existe uma associação entre a autoeficácia total para a atividade física e a percepção de benefícios do exercício e a autoeficácia para o exercício programado e as barreiras do exercício. Deve-se potencializar os benefícios da atividade física, bem como criar intervenções que ajudem a população estudantil de enfermagem a superar barreiras, fortalecendo a autoeficácia para a atividade física, independentemente da intensidade.

STAT3 gain-of-function mutation in an adult patient / Paciente adulto portador de una mutación con ganancia de función en el gen STAT3

Abstract Germline gain-of-function (GOF) mutation of the signal transducer and activator of transcription 3 (STAT3) gene causes a disease clinically characterized by a significant lymphoproliferation, includ ing lymphadenopathy and/or hepatosplenomegaly, as well as childhood onset autoimmunity. Here we present an adult patient who, during his early years of life, presented recurrent infections, autoimmune hemolytic anemia and benign lymphoproliferative disease, characterized by hepatosplenomegaly and lymphadenopathy, being diagnosed with common variable immunodeficiency (CVID) at 13 years of age. He was diagnosed with lymphocytic interstitial pneumonia at the age of 20. When he was 40 years old, after a diagnostic review, it was decided to perform genetic studies. A heterozygous mutation in STAT3 NM_003150 c.2141C>T, p.P714L was detected by whole exome sequencing and validated by Sanger. Previously published functional studies performed in two siblings showed that this mutation resulted in gain-of-function. They were initially diagnosed with autoimmune lymphoproliferative syndrome, and later with STAT3 GOF as a second genetic defect. Our patient developed severe pulmonary disease and died, without access to treatment targeted to his molecular defect due to the advanced nature of his pulmonary involvement and the fact that many of the therapies were still in develop ment at that time. The diagnosis of STAT3 GOF mutations should be suspected in patients with early-onset of lymphoproliferative disease, autoimmunity and hypogammaglobulinemia. This must be considered especially in the group of CVID patients with these characteristics, in order to allow the implementation of treatments target ing the molecular defect (JAK inhibitors and Il-6 receptor antagonists) that could modify the disease evolution.

Resumen Mutaciones en línea germinal con ganancia de función (GOF) del gen transductor de señales y acti vador de la transcripción 3 (STAT3) provocan una enfermedad caracterizada por importante linfoproliferación, incluyendo linfadenopatías y/o hepatoesplenomegalia, así como autoinmunidad de inicio en la infancia. Presen tamos un paciente adulto que, durante sus primeros años de vida, presentó infecciones recurrentes, anemia hemolítica autoinmune y enfermedad linfoproliferativa benigna, caracterizada inicialmente por hepatoespleno megalia y linfoadenopatías, diagnosticado de inmunodeficiencia común variable (IDCV) a los 13 años. A los 20 años, al ser estudiado por compromiso pulmonar, se diagnosticó neumonía intersticial linfocítica. A los 40 años, tras revisión diagnóstica se decidió realizar estudios genéticos. Por secuenciación del exoma completo se detectó una mutación heterocigota en STAT3 NM_003150 c.2141C>T, p.P714L, que se validó por Sanger. Estudios funcionales previamente publicados realizados en dos hermanos con diagnóstico inicial de síndrome linfoproliferativo autoinmune, mostraron que esta mutación daba lugar a una ganancia de función. Nuestro pa ciente desarrolló enfermedad pulmonar grave y falleció a los 41 años, sin posibilidad de acceder a tratamiento dirigido a su defecto molecular por lo avanzado de su compromiso pulmonar y a que muchas de las terapias se encontraban en ese momento en desarrollo. El diagnóstico de mutaciones STAT3 GOF debe sospecharse en pacientes con enfermedad linfoproliferativa temprana, autoinmunidad e hipogammaglobulinemia. Esto debe ser considerado especialmente en pacientes con IDCV con estas características, para permitir la implementación de tratamientos dirigidos al defecto molecular (inhibidores de JAK y antagonistas del receptor de Il-6) que podrían modificar la evolución de la enfermedad.

[COVID-19 in adults with antibody deficiencies]. / COVID-19 en adultos con inmunodeficiencias humorales.

COVID-19, caused by SARS-CoV-2, emerged in late 2019 in Wuhan, China. Its clinical course is variable, as well as the mortality rate, which is higher among people over 65 years of age and persons with underlying conditions. Immunodeficiencies are potential risk factors for severe forms of COVID-19. Furthermore, patients with immunodeficiencies often undergo non-infectious complications, which could bear additional risk. So far, few reports of patients with COVID-19 and humoral immunodeficiencies have been published. Considering the importance of the study of this new viral disease and its potential health impact on patients with immunodeficiency disorders, we present six cases of COVID-19 in patients with impaired humoral immunity. Three were women and three were men. The average age was 48.5 years (range 20-67). Four had been diagnosed with primary antibody deficiency: three had common variable immunodeficiency and one had X-linked agammaglobulinemia. The other two patients had secondary hypogammaglobulinemia, one was associated with thymoma (Good's syndrome), and the other was associated with rituximab treatment. The evolution was favorable in all except the patient with Good's syndrome, who presented a marked decline in clinical status before contracting COVID-19.

La enfermedad COVID-19, causada por el virus SARS-CoV-2, surgió a fines de 2019 en Wuhan, China. La evolución clínica es variable, así como la tasa de mortalidad, que es mayor en pacientes mayores de 65 años y en quienes padecen enfermedades subyacentes. Las inmunodeficiencias son potenciales factores de riesgo para formas graves de COVID-19. Los pacientes con inmunodeficiencias tienen además mayor frecuencia de complicaciones no infecciosas, que podrían representar un riesgo adicional. Hasta el momento existen escasas publicaciones sobre asociación COVID-19 e inmunodeficiencias humorales. Considerando la importancia del estudio de esta nueva enfermedad viral y de su potencial repercusión en la salud de los pacientes con inmunodeficiencias presentamos seis casos de COVID-19 en adultos con déficit de anticuerpos (tres mujeres y tres varones, edad promedio 48.5 años, rango 20-67). Cuatro tenían inmunodeficiencias primarias: inmunodeficiencia común variable (n: 3) y agammaglobulinemia ligada al cromosoma X (n: 1). Los otro dos tenían hipogammaglobulinemia secundaria, en un caso asociada a timoma (síndrome de Good), y en el otro a tratamiento con rituximab. La evolución fue favorable en todos menos en el paciente con síndrome de Good, quien presentaba un marcado deterioro del estado general antes de contraer COVID-19.

COVID-19 en adultos con inmunodeficiencias humorales / COVID-19 in adults with antibody deficiencies

Resumen La enfermedad COVID-19, causada por el virus SARS-CoV-2, surgió a fines de 2019 en Wuhan, China. La evolución clínica es variable, así como la tasa de mortalidad, que es mayor en pacientes mayores de 65 años y en quienes padecen enfermedades subyacentes. Las inmunodeficiencias son potenciales factores de riesgo para formas graves de COVID-19. Los pacientes con inmunodeficiencias tienen además mayor frecuencia de complicaciones no infecciosas, que podrían representar un riesgo adicional. Hasta el momento existen escasas publicaciones sobre asociación COVID-19 e inmunodeficiencias humorales. Considerando la importancia del estudio de esta nueva enfermedad viral y de su potencial repercusión en la salud de los pacien tes con inmunodeficiencias presentamos seis casos de COVID-19 en adultos con déficit de anticuerpos (tres mujeres y tres varones, edad promedio 48.5 años, rango 20-67). Cuatro tenían inmunodeficiencias primarias: inmunodeficiencia común variable (n: 3) y agammaglobulinemia ligada al cromosoma X (n: 1). Los otro dos tenían hipogammaglobulinemia secundaria, en un caso asociada a timoma (síndrome de Good), y en el otro a tratamiento con rituximab. La evolución fue favorable en todos menos en el paciente con síndrome de Good, quien presentaba un marcado deterioro del estado general antes de contraer COVID-19.

Abstract COVID-19, caused by SARS-CoV-2, emerged in late 2019 in Wuhan, China. Its clinical course is variable, as well as the mortality rate, which is higher among people over 65 years of age and persons with underlying conditions. Immunodeficiencies are po tential risk factors for severe forms of COVID-19. Furthermore, patients with immunodeficiencies often undergo non-infectious complications, which could bear additional risk. So far, few reports of patients with COVID-19 and humoral immunodeficiencies have been published. Considering the importance of the study of this new viral disease and its potential health impact on patients with immunodeficiency disorders, we present six cases of COVID-19 in patients with impaired humoral immunity. Three were women and three were men. The average age was 48.5 years (range 20-67). Four had been diagnosed with primary antibody deficiency: three had common variable immunodeficiency and one had X-linked agammaglobulinemia. The other two patients had secondary hypogammaglobulinemia, one was associated with thymoma (Good's syndrome), and the other was associated with rituximab treatment. The evolution was favorable in all except the patient with Good's syndrome, who pre sented a marked decline in clinical status before contracting COVID-19.

Sleep deprivation induces oxidative stress in the liver and pancreas in young and aging rats.

The aging process is characterized by a gradual impairment generally caused by oxidative stress and, more specifically, sleep deprivation, which induces oxidative stress in the brain. The objective of this study was to assess the effect of three types of paradoxical sleep deprivation (PSD): 96 h of PSD (96PSD group); 192 h of PSD (192PSD group); 192 h of PSD followed by a recovery period of 20 days (192PSD + Recovery group) on an oral glucose tolerance test (OGTT), lipid peroxidation (LPO), and superoxide dismutase (SOD) and catalase (CAT) activities in the liver and pancreas of young (3-month-old) and adult (14-month-old) rats. The 96PSD and 192PSD groups of young rats showed lower glucose levels on the OGTT than the control group. In the adult rats, only the 96PSD group had lower glucose levels than the control group. However, the areas under the curve for the young and adult 192 and 192PSD + Recovery groups showed significant differences. Both LPO and SOD increased in the 192PSD and 192PSD + Recovery groups, but CAT decreased in the liver of young rats in the 192PSD group. Regarding the pancreas, LPO and SOD levels increased after 96 h of PSD. In adult animals, CAT decreased in the liver after 96 and 192 h of PSD, while LPO and SOD increased in the pancreas of the 192PSD and PSD + Recovery groups. Differences in the SOD and CAT activities in the liver and SOD activities in the pancreas were also observed between the young and adult rats and maintained across all the PSD groups. In conclusion, PSD induced differential responses that appeared to depend on the duration of the induced condition, the animals' age, and the tissue analyzed. It was found that adult rats were more susceptible to the effects of PSD than young rats.

Delay in puberty indices of Wistar rats caused by Cadmium. Focus on the redox system in reproductive organs.

Puberty is a transitional period from juvenile stage to adulthood, followed by the functional maturation of gonads and reproductive organs. This period is sensitive to environmental pollutants like cadmium (Cd), a heavy metal that represents a serious health risk. Cd is an endocrine disruptor that interferes with reproduction by causing oxidative stress in the reproductive organs, affecting the sexual function and decreasing testosterone (T) levels. However, little research has been done on the effects of Cd on puberty markers and antioxidant systems. In this study, we evaluated the effects of Cd on puberty markers: preputial separation, testes descent and T levels, and the antioxidant activity (SOD, CAT, GSH/GSSG and TAC) in the seminal vesicles, testis and epididymis. Male Wistar pups were treated with 1 mg/kg Cd or saline solution by i.p. injection from day 1 to 35; the other treatment was administrated for 49 days. At the end of treatment, the animals were sacrificed, and the tissues of interest dissected, weighed and prepared for the respective assays. Cd treated rats from birth to puberty showed a delay onset in the puberty markers and a low weight in reproductive organs. Also, Cd induced differential effects on the redox system in reproductive organs and decreased T levels, these effects played a pivotal role in the delay of puberty markers onset (testes descent and preputial separation), affecting the development and sexual maturity of the male rats.

Role Played and Strategies Employed by Managers to Support Point-of-Care Nurses' Use and Adoption of Health Information Technology: A Scoping Review.

Nurse managers play a significant role in the way care is provided by point-of-care nurses. Yet it is unclear what role nurse managers have in supporting nurses in using health information technologies (ITs) specifically. The objectives of this article are to (1) uncover the role of nurse managers in supporting point-of-care nurses to optimally use health ITs and (2) identify strategies that nurse managers can employ to support point-of-care nurses in using these technologies. A scoping review methodology was used, which resulted in the inclusion of 10 relevant articles. Concerning the role of the nurse manager, four themes were identified: (1) decision making, , (2) implementation planning, (3) supporting staff and (4) evaluation. With regard to strategies to support the use of health ITs, two themes were identified: (1) strategies that prepare nurse leaders in their role of supporting point-of-care staff in using health ITs and (2) strategies that directly support point-of-care staff in using health ITs. The results of this review will be of interest to nurse leaders, informatics researchers and nurse informaticians.

Psycho social risks noted by oncology workers related to their quality of life.

OBJECTIVE: To analyze the relation between occupational psychosocial risks and quality of life related to health, felt by workers who work in oncology and palliative care units in a region of Chile. METHOD: Cross-sectional analytical study of quantitative approach, in which 110 health workers participated. Research met the ethical requirements of E. Emanuel. RESULTS: Participants perceive greater exposure to psychosocial risks in the dimension of psychological demands and double presence. On the other hand, they see better results in the physical health component (𝒙: 76.72; SD 9.75) versus the mental health component (𝒙: 71.13; SD 6.38). In addition, there are relations with statistical significance, between psychosocial risks and quality of life related to Health (p≤0.05). CONCLUSIONS: This study shows that there the perception of psychosocial risks and quality of life are related, when considering the health of workers.

Psycho social risks noted by oncology workers related to their quality of life / Riscos psicossociais identificados por profissionais de oncologia associados à sua qualidade de vida / Riesgos psicosociales percibidos por trabajadores oncológicos asociados a su calidad de vida

ABSTRACT Objective: To analyze the relation between occupational psychosocial risks and quality of life related to health, felt by workers who work in oncology and palliative care units in a region of Chile. Method: Cross-sectional analytical study of quantitative approach, in which 110 health workers participated. Research met the ethical requirements of E. Emanuel. Results: Participants perceive greater exposure to psychosocial risks in the dimension of psychological demands and double presence. On the other hand, they see better results in the physical health component (��: 76.72; SD 9.75) versus the mental health component (��: 71.13; SD 6.38). In addition, there are relations with statistical significance, between psychosocial risks and quality of life related to Health (p≤0.05). Conclusions: This study shows that there the perception of psychosocial risks and quality of life are related, when considering the health of workers.

RESUMO Objetivo: Analisar a relação entre os riscos psicossociais do trabalho e a qualidade de vida relacionada à saúde, identificada por profissionais que atuam em unidades de oncologia e cuidados paliativos em uma região do Chile. Método: Estudo analítico transversal, de abordagem quantitativa, em que participaram 110 profissionais da Saúde. A pesquisa atendeu os requisitos éticos de E. Emanuel. Resultados: Os participantes identificam uma maior exposição a riscos psicossociais na dimensão de demandas psicológicas e presença dupla; por outro lado, notam melhores resultados no componente da saúde física (��: 76,72; DE 9,75) versus o componente da saúde mental (��:71,13; DE:6,38). Além disso, há conexão, com estatísticas significantes, entre os riscos psicossociais e a qualidade de vida relacionada à Saúde (p ≤0,05). Conclusões: O presente estudo permite afirmar que há uma conexão entre a percepção de riscos psicossociais e a qualidade de vida relacionada com a saúde dos profissionais.

RESUMEN Objetivo: analizar la relación entre riesgos psicosociales laborales y calidad de vida relacionada con salud, percibida por trabajadores que se desempeñan en unidades de oncología y cuidados paliativos de una región de Chile. Método: estudio analítico transversal de abordaje cuantitativo, en el cual participaron 110 trabajadores de salud. La investigación cumplió con los requisitos éticos de E. Emanuel. Resultados: los participantes perciben mayor exposición a riesgos psicosociales en la dimensión demandas psicológicas y doble presencia, por otra parte, perciben mejores resultados en el componente de salud física (��: 76,72; DE 9,75) versus el componente de salud mental (��:71,13; DE:6,38). Además, existen relaciones con significancia estadística, entre riesgos psicosocial y calidad de vida relacionada con Salud (p ≤0,05). Conclusiones: este estudio permite afirmar que hay una relación entre la percepción de riesgo psicosocial y calidad de vida relacionada con salud de los trabajadores.

Re-evaluating the self-report habit index: the cases of physical activity and snacking habits.

Objectives: The Self-Report Habit Index (SRHI) was originally reported as one-dimensional; however, habit has been described as characterised by several features. Moreover, one-dimensional models for the SRHI have demonstrated poor fit. Therefore, we aimed to compare multidimensional models with a one-dimensional model in both snacking and physical activity habits, besides examining further instrument characteristics. Design: A cross-sectional study was conducted with high school and university students (n = 555). Main outcome measure: The SRHI adapted for physical activity and for snaking habits was applied at one time point. Results: Nested models with one factor, two factors and three factors were compared. Next, a hierarchical second-order model was tested, and further validity issues, as well as invariance between habits, were examined. Three-dimensional models represented a better fit for both habits. However, fit was still inadequate in the snacking version. In addition, discriminant validity concerns emerged for the physical activity SRHI. Moreover, invariance between the snacking and the physical activity versions was not confirmed. Conclusions: Considering the SRHI as composed by the dimensions of 'lack of awareness', 'lack of control' and 'history of behavioural repetition' seems to be more accurate. Nevertheless, our findings suggest that further research is needed.

Reviving Human Research in Costa Rica.

Costa Rica is a small developing nation in Central America with a well-regarded universal health care system and a strong human rights tradition. In the latter part of the twentieth century, it became a popular site for clinical trials funded by multinational pharmaceutical companies. In light of concerns about ineffective oversight and alleged research abuses, the Constitutional Chamber of the Supreme Court passed a moratorium on all biomedical studies involving humans. This moratorium was in place between 2010 and 2014, when the Legislative Assembly passed a new national law to protect participants' rights and welfare. This case study reviews the history of human research protections in Costa Rica and provides recommendations for how Costa Rica can move forward responsibly as a leader in human research for the region.

Association Between Cardiovascular Risk Factors and Stress Hormones With Cognitive Performance in Mexican Adolescents.

Objective: The objective of this study was to determine whether cardiovascular disease (CVD) risk factors and stress hormones are associated with cognitive performance in Mexican adolescents. Methods: This was a cross-sectional study including 139 Mexican adolescents 10-14 years old. Participants were divided into three categories: 0, 1-2, and ≥3 CVD risk factors. These factors included: high-density lipoprotein-cholesterol (HDL-C) <40 mg/dl; waist circumference (WC) ≥90th percentile for age and sex, systolic or diastolic blood pressure ≥90th percentile for age, sex, and height; and triacylglycerols (TGs) ≥110 mg/dl. Low-density lipoprotein-cholesterol (LDL-C), very low-density lipoprotein-cholesterol (VLDL-C), total cholesterol, cortisol, and plasma catecholamines were measured as well. Furthermore, attention, memory, and executive functions were evaluated using a validated test for Spanish-speaking individuals (Neuropsi). Results: Adolescents in the three risk categories did not show significant differences in Neuropsi test performance tasks; however, they presented different lipid and plasma norepinephrine concentrations. TG and VLDL-C were inversely associated with memory (r = -0.19, **p < .01). Multivariate regression analysis showed consistently that TG/HDL-C ratio was inversely related to attention-memory general score (standardized ß = -0.99, t = -2.30, p = .023), memory (standardized ß = -0.83, t = -2.08, p = .039), and attention-executive functions (standardized ß = -1.02, t = -2.42, p = .017). Plasma epinephrine levels presented an inverse and weak relation to the attention-executive functions score (standardized ß = -0.18, t = -2.19, p = .030). Conclusions: Cognitive performance is not completely dependent on the accumulation of risk factors, but instead on the combination of strong predictors of CVD like waist to height ratio, TG/HDL-C, and VLDL-C. Plasma norepinephrine and epinephrine have a stronger association with cognition and CVD risk than dopamine and cortisol.