Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad / Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert.

Modulating effects of Astragalus polysaccharide on immune disorders via gut microbiota and the TLR4/NF-κB pathway in rats with syndrome of dampness stagnancy due to spleen deficiency / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

The syndrome of dampness stagnancy due to spleen deficiency (DSSD) is relatively common globally. Although the pathogenesis of DSSD remains unclear, evidence has suggested that the gut microbiota might play a significant role. Radix Astragali, used as both medicine and food, exerts the effects of tonifying spleen and qi. Astragalus polysaccharide (APS) comprises a macromolecule substance extracted from the dried root of Radix Astragali, which has many pharmacological functions. However, whether APS mitigates the immune disorders underlying the DSSD syndrome via regulating gut microbiota and the relevant mechanism remains unknown. Here, we used DSSD rats induced by high-fat and low-protein (HFLP) diet plus exhaustive swimming, and found that APS of moderate molecular weight increased the body weight gain and immune organ indexes, decreased the levels of interleukin-1β (IL-1β), IL-6, and endotoxin, and suppressed the Toll-like receptor 4/nuclear factor-‍κB (TLR4/NF-‍κB) pathway. Moreover, a total of 27 critical genera were significantly enriched according to the linear discriminant analysis effect size (LEfSe). APS increased the diversity of the gut microbiota and changed its composition, such as reducing the relative abundance of Pseudoflavonifractor and Paraprevotella, and increasing that of Parasutterella, Parabacteroides, Clostridium XIVb, Oscillibacter, Butyricicoccus, and Dorea. APS also elevated the contents of short-chain fatty acids (SCFAs). Furthermore, the correlation analysis indicated that 12 critical bacteria were related to the body weight gain and immune organ indexes. In general, our study demonstrated that APS ameliorated the immune disorders in DSSD rats via modulating their gut microbiota, especially for some bacteria involving immune and inflammatory response and SCFA production, as well as the TLR4/NF-κB pathway. This study provides an insight into the function of APS as a unique potential prebiotic through exerting systemic activities in treating DSSD.

Niveles glutatión reducido y estado redox celular en pacientes pediátricos con inmunodeficiencias / Reduced glutathione levels and cellular redox status in pediatric patients with immunodeficiencies

Introducción: Las alteraciones en el estado redox celular se han descrito como factores causales en diversas enfermedades. La depleción del glutatión reducido se ha asociado fundamentalmente a enfermedades neurodegenerativas, pulmonares, hepáticas, cardiovasculares e inmunológicas. Objetivo: Determinar las concentraciones de glutatión reducido y el estado redox celular en pacientes pediátricos con inmunodeficiencias. Métodos: Se estudiaron 21 pacientes con inmunodeficiencias procedentes de la consulta de Inmunogenética, en edades comprendidas entre 1 y 8 años, de ambos sexos, y 8 niños en el mismo rango de edad de los pacientes, como grupo control, con estudios de inmunidad humoral y celular normales. Los pacientes con diagnóstico de inmunodeficiencia se dividieron para su estudio en 2 grupos según el componente afectado de la respuesta inmune: humoral y celular. Fueron determinadas las concentraciones intraeritrocitarias de glutatión reducido y oxidado, mediante un método de HPLC-UV. Para evaluar el estado redox celular se calculó la relación entre las formas reducidas y oxidadas del glutatión (GSH/GSSG). Resultados: Las concentraciones de glutatión reducido y el estado redox celular se encontraron disminuidos en ambos grupos de pacientes en relación con los niños sin inmunodeficiencia (p=0,031 y p=0,03; respectivamente). El glutatión oxidado no mostró diferencias entre los grupos. Conclusiones: En los pacientes con inmunodeficiencia se evidenció la afectación del estado redox celular como consecuencia de la disminución del glutatión reducido. Este primer acercamiento ofreció las potencialidades del empleo de estos biomarcadores en la evaluación integral de pacientes con inmunodeficiencia(AU)

Introduction: Alterations in the cellular redox state have been described as causal factors in various diseases. Reduced glutathione depletion has been fundamentally associated with neurodegenerative, pulmonary, liver, cardiovascular and immunological diseases. Objective: To determine the concentrations of reduced glutathione and the cellular redox status in pediatric patients with immunodeficiencies. Methods: We studied 21 patients with immunodeficiencies from the immunogenetic service, aged between 1 and 8 years and as a control group, 8 children in the same age range as the patients, with normal humoral and cellular immunity studies. Patients diagnosed with immunodeficiency were divided into two groups according to the affected component of the immune response: humoral and cellular. The intraerythrocyte concentrations of oxidized and reduced glutathione were determined by means of an HPLC-UV method. To evaluate the cellular redox state, the relationship between the reduced and oxidized forms of glutathione (GSH/GSSG) was calculated. Results: Reduced glutathione concentrations and cellular redox status were found to be decreased in both groups of patients in relation to children without immunodeficiency (p=0,031 and p=0,03; respectively). Oxidized glutathione showed no difference between the groups. Conclusions: In patients with immunodeficiency, the cellular redox state is affected as a consequence of the decrease in reduced glutathione. This first approach offers the potential for the use of these biomarkers in the comprehensive evaluation of patients with immunodeficiency(AU)

Utilidad de los productos naturales en afecciones hematológicas e inmunológicas / Usefulness of therapeutic plasmapheresis in critical patients with organ dysfunction

Debido a sus metabolitos secundarios, las plantas medicinales presentan diversas acciones farmacológicas que posibilitan la elaboración de productos naturales. En el presente trabajo se describen, brevemente, las actividades con utilidad en las afecciones hematológicas e inmunológicas. Para ello se realizó una revisión actualizada de las investigaciones científicas acerca de esta temática, lo cual permitió concluir que el empleo de productos naturales, como tratamiento adyuvante, favorece adecuadamente a los pacientes con enfermedades hematológicas e inmunológicas(AU)

Due to their secondary metabolites, medicinal plants have various pharmacological actions that enable the development of natural products. In the present work, the activities useful in hematological and immunological conditions are briefly described. For this, an updated review of the scientific research on this subject was carried out, which allowed the conclusion that the use of natural products, as adjuvant treatment, adequately benefits patients with hematological and immunological diseases(AU)

Factores de riesgo para infección en cavidad residual post cirugía de hidatidosis hepática en pacientes de la serranía peruana / Risk factors for infection in the residual cavity after liver hydatidosis surgery in patients from the Peruvian highlands

Resumen Objetivo: Determinar los factores de riesgo a la infección en cavidad residual post quistectomía hepática en los pacientes del hospital Ramiro Prialé Prialé - EsSalud -Huancayo. Materiales y Métodos: Se realizó una cohorte retrospectiva, entre enero del 2014 y enero del 2018. Se utilizó una ficha de recolección de datos. Se obtuvieron los riesgos relativos (RR) crudos y ajustados, con intervalos de confianza al 95%. Resultados: Participaron 83 pacientes. El 41,2% de las mujeres presentaron infección en la cavidad postquistectomía y la mediana de edad de los pacientes infecta dos fue de 33 años. Los antecedentes patológicos que se relacionaron con la infección fueron obesidad o sobrepeso (62,5%), neoplasia previa (100%) y enferme dad inmunológica previa (31%). La infección en cavidad residual postquistectomía estuvo relacionada a la presencia de obesidad o sobrepeso, diabetes mellitus, neoplasia previa , cirugía previa y al uso de antibióticos posteriores a la cirugía. Conclusiones: La obesidad o sobrepeso, diabetes mellitus, haber padecido alguna neoplasia o cirugía previa y el uso de antibióticos luego de la cirugía; son factores de riesgo para la infección en cavidad residual postquistectomía hepática en los pacientes del Hospital Nacional Ramiro Prialé Prialé EsSalud de Huancayo, Perú.

Abstract Objective: To determine the risk factors with the infection in the residual cavity after hepatic cystectomy in the patients of the Ramiro Prialé Prialé hospital - EsSalud -Huancayo. Materials and Methods: A retrospective cohort was conducted, between January 2014 and January 2018. A data collection sheet was used. Crude and adjusted relative risks (RR) were obtained, with 95% confidence intervals. Results: 83 patients participated. 41.2% of women infected in the post-cystectomy cavity and the median age of infected patients was 33 years. The pathological antecedents that were related to the infection were obesity or overweight (62.5%), previous neoplasia (100%) and previous immune disease (31%). Post-cystectomy residual cavity infection was affected by the presence of obesity or overweight (aRR: 1.56; 95% CI: 1.15-2.13; p value = 0.005), diabetes mellitus (aRR: 2.67; 95% CI : 2.09-3.41; p value <0.001), previous neoplasia (aRR: 2.49; 95% CI: 1.94-3.20; p value <0.001), previous surgery (aRR: 1.49; 95% CI: 1.36-1.64; p value <0.001) and the use of post-surgery antibiotics (aRR: 2.14; 95% CI: 1.30-3.51; p value = 0.003) Conclusions: Obesity or overweight, diabetes mellitus, having suffered some neoplasia or previous surgery and the use of antibiotics after surgery; they are factors associated with infection in the residual post-cystectomy liver cavity in patients of the Ramiro Prialé Prialé EsSalud National Hospital in Huancayo, Peru.

Insuficiencia renal aguda transitoria después de trombólisis coronaria con estreptoquinasa / Transient acute renal failure after coronary thrombolysis with streptokinase

Introducción: En la actualidad existen más de 150 medicamentos relacionados con la aparición de rabdomiólisis e insuficiencia renal aguda transitoria. La estreptoquinasa puede ser uno de ellos. Objetivo: Presentar un caso en el cual la administración de trombólisis con estreptoquinasa pudiera estar relacionado con una insuficiencia renal aguda transitoria. Caso clínico: Paciente de 38 años, con antecedentes de salud anterior y creatinina de 81 mg/L días antes del ingreso, sufrió infarto miocárdico agudo y después de la trombólisis con estreptoquinasa presentó dolores musculares intensos, náuseas, vómitos y lumbalgia intensa. La creatinina ascendió progresivamente; tuvo oligoanuria progresiva que evolucionó hasta las dos semanas y luego se recuperó. A los 21 días, la creatinina estaba en 116 mg/L. En la coronariografía, las coronarias son normales. Comentarios: Las causas de insuficiencia renal aguda transitoria pudieran ser, rabdomiólisis asociada con alteraciones del metabolismo del ATP y trastornos inmunológicos provocados por la administración de estreptoquinasa. La coronariografía resultó normal(AU)

Introduction: There are currently more than 150 medications related to the appearance of rhabdomyolysis and transient acute renal failure. Streptokinase can be one of them. Objective: Presenting a case the administration of streptokinase as a possible cause of acute, transient renal failure. Case report: A 38-year-old patient with a previous health history and 81 mg creatinine per liter days before admission, suffers acute myocardial infarction and after streptokinase thrombolysis he suffers severe muscle pain, nausea, vomiting, severe low back pain, creatinine ascends progressively and progressive oligoanuria that evolves until two weeks when it begins to return. At 21 days with 116 mg creatinine per liter, coronary angiography was performed with normal coronaries. Comments: The causes of transient acute renal failure may be rhabdomyolysis associated with abnormalities of the metabolism of ATP and immune disorders, caused by the administration of streptokinase. His coronary angiography was completely normal(AU)

Vacinas COVID-19 e imunobiológicos / COVID-19 vaccines and immunobiological drugs

Os medicamentos imunobiológicos têm sido frequentemente utilizados no tratamento das doenças alérgicas e de natureza imunológica. Esses agentes regulam a resposta imunológica do tipo 2 nas doenças alérgicas ou atuam em diversas vias de ativação alteradas nos erros inatos da imunidade. Com o surgimento da pandemia COVID-19 um crescente número de pacientes em uso de imunobiológicos para essas condições deverão ser vacinados contra o vírus SARS-CoV-2. Dessa forma, existe a necessidade de avaliar a segurança e eficácia destas vacinas nos pacientes em uso de imunobiológicos para asma, dermatite atópica, rinossinusite crônica com pólipos nasais, urticária crônica e erros inatos da imunidade. Foi realizada uma busca de literatura recente relevante sobre imunobiológicos e vacinas COVID-19 no PubMed. Existe um consenso de manutenção desses agentes durante a pandemia COVID-19, embora nas doenças alérgicas os mesmos devam ser suspensos durante a infecção ativa. Por outro lado, dados disponíveis em relação à segurança e eficácia das vacinas contra a COVID-19 nesse grupo de pacientes são escassos. Existem relatos do uso de outras vacinas inativadas em associação com alguns imunobiológicos demonstrando serem eficazes e seguras. Portanto, considerando o risco potencial da infecção COVID-19, especialmente nos pacientes portadores de erros inatos da imunidade, recomendamos que as vacinas contra a COVID-19 sejam utilizadas nos pacientes em uso de imunobiológicos. Desta forma, existe uma necessidade de estudos que avaliem estas questões haja vista que a terapia com diversos imunobiológicos tem sido amplamente utilizada nos pacientes com doenças alérgicas e de natureza imunológica.

Immunobiological drugs have often been used to treat allergic and immunological diseases. These agents regulate the type 2 immune response in allergic diseases or act on different activation pathways altered in inborn errors of immunity. With the emergence of the COVID-19 pandemic, an increasing number of patients with these conditions using these agents should be vaccinated against the SARS-CoV-2 virus. Thus, there is a need to evaluate the safety and efficacy of these vaccines in patients using biologics for asthma, atopic dermatitis, chronic rhinosinusitis with nasal polyps, chronic urticaria, and inborn errors of immunity. A search for relevant recent literature on biologics and COVID-19 vaccines was conducted on PubMed. There is a consensus on maintaining the use of these agents during the COVID-19 pandemic, although in allergic diseases they must be suspended during active infection. Conversely, the available data regarding the safety and efficacy of the COVID-19 vaccines are scarce. There are reports of the use of other inactivated vaccines with some biologics proving to be effective and safe. Therefore, considering the potential risk of COVID-19 infection, especially in patients with inborn errors of immunity, we recommend that COVID-19 vaccines should be used in patients using biologics. Thus, there is a need for studies to assess these issues, given that therapy with several biologics has been widely used in patients with allergic and immunological diseases.

Factores etiopatogénicos de las enfermedades autoinmunes en el siglo XXI / Etiopathogenic factors of autoimmune diseases in the 21st century

Introducción: La etiología de las enfermedades autoinmunes aún se desconoce, aunque se plantean diferentes causas. Objetivo: Describir el rol de factores como las hormonas, alimentación, estrés, enfermedades infecciosas y cáncer en las enfermedades autoinmunes. Métodos: Se realizó una revisión bibliográfica empleando Google Académico y artículos de libre acceso en la base de datos PubMed y SciELO, publicados entre enero del 2014 y junio del 2020. Se consultó la bibliografía nacional e internacional relevante y actualizada, con un total de 51 referencias, de estas, tres libros básicos de la especialidad de Inmunología y 48 artículos (12 en idioma español y 36 en inglés). Se utilizaron los términos de búsqueda según los descriptores del DeCS y MeSH. Resultados: Las hormonas femeninas incrementan el riesgo de las enfermedades autoinmunes. Un desbalance en la neurohormona melatonina puede generar linfocitos autorreactivos. El estrés puede mantener respuestas inflamatorias crónicas que causen daño tisular. Una adecuada alimentación permite que los comensales de la microbiota intestinal mantengan la homeostasis del sistema inmune. Las infecciones en ocasiones desarrollan respuestas autoinmunitarias. La causalidad entre el cáncer y la autoinmunidad es bidireccional producto de procesos inflamatorios. Conclusiones: Las enfermedades autoinmunes son más frecuentes en las mujeres. Una alimentación adecuada permite que la microbiota intestinal no se altere y que mantenga la homeostasis inmunológica. Situaciones de estrés e infecciones pueden iniciar respuestas autoinmunes. El cáncer puede favorecer el desarrollo de manifestaciones autoinmunes, y estas últimas por el predominio inflamatorio, favorecen la tumorogénesis(AU)

Introduction: The etiology of autoimmune diseases is still unknown, though several causes have been suggested. Objective: Describe the role of hormones, eating, stress, infectious diseases and cancer in immune diseases. Methods: A bibliographic review was conducted using Google Scholar and open access papers published in the databases Pubmed and SciELO from January 2014 to June 2020. Relevant updated national and international bibliography was consulted, for a total 51 references: three basic books from the specialty of immunology and 48 papers (12 in Spanish and 36 in English). The search terms used were obtained from the descriptors DeCS and MeSH. Results: Feminine hormones increase the risk of autoimmune diseases. Imbalance in the neurohormone melatonin may generate autoreactive lymphocytes. Stress may maintain chronic inflammatory responses causing tissue damage. Appropriate eating habits allow gut microbiota commensals to maintain the homeostasis of the immune system. Infections occasionally develop autoimmune responses. Causality between cancer and autoimmunity is bidirectional, due to the presence of inflammatory processes. Conclusions: Autoimmune diseases are more common among women. Appropriate eating habits prevent alterations of the gut microbiota, allowing it to maintain immune homeostasis. Stress situations and infections may trigger autoimmune responses. Cancer may foster the development of autoimmune manifestations, and these, due to the inflammatory predominance, may foster tumorigenesis(AU)

Hallazgos ultrasonográficos en articulaciones de muñecas y manos de pacientes con sospecha clínica de artritis reumatoide en fase temprana / Ultrasonographic findings in wrists and hands of patients with clinical suspicion of early phase rheumatoid arthritis

La Artritis Reumatoide (AR) es una enfermedad crónica y autoinmune cuyo primer año de evolución es considerado por el Colegio Americano de Reumatología como su fase temprana. Con el objetivo de describir los hallazgos ultrasonográficos en las articulaciones de muñecas y manos de pacientes con sospecha clínica de AR en fase temprana referidos de la consulta de Reumatología del Hospital Central Universitario Dr. Antonio María Pineda durante el lapso junio-agosto de 2018, se realizó un estudio descriptivo transversal evaluando 126 articulaciones de 21 pacientes según la escala modificada del OMERACT. Los pacientes se caracterizaron por un promedio de edad de 51,4 ± 11,1 años, siendo el grupo etario más afectado el de 41-50 años y 51-60 años. Hubo un predominio del sexo femenino (85,7%) y una media de inicio de síntomas de 5,2 ± 2,8 meses. Las principales alteraciones encontradas fueron derrame sinovial (54,7%), engrosamiento sinovial (28,5%), tenosinovitis en el grupo extensor (28,5%), erosiones óseas (11,1%) y tenosinovitis en flexores (9,5%). Los hallazgos mostraron mayor afectación de las articulaciones radiocarpianas; 12,7% y 7,9% mostraron hipertrofia sinovial y sinovitis grado I, 15% derrame sinovial grado 1 y 2 y 7,9% erosiones óseas pequeñas. El 8,7% de las II metacarpofalángicas mostraron hipertrofia sinovial grado I, 6,3% sinovitis, 13,4% derrame sinovial y 1,5% erosiones óseas medianas; el 0,79% de las II interfalángicas proximales presentaron derrame sinovial grado 1. Se observó tenosinovitis grado 1 en 25,4% de extensores y 7,9% de flexores. En conclusión, la ultrasonografía es una herramienta complementaria en el diagnóstico y seguimiento de la enfermedad reumatoide en fase temprana por lo que se sugiere fomentar su uso evitando gastos innecesarios y retrasos en el inicio del tratamiento(AU)

Rheumatoid Arthritis (RA) is a chronic and autoimmune disease whose first year of clinical manifestations is considered the early phase of the disease according to the American College of Rheumatology. With the aim of describing the ultrasonographic findings in the wrists and hands of patients with clinical suspicion of early phase RA referred to the Rheumatology Service of the Hospital Central Universitario Dr. Antonio Maria Pineda during the period June-August 2018, a cross-sectional descriptive study was conducted evaluating 126 joints of 21 patients according to the modified scale of the OMERACT. Patients had an average age of 51.4 ± 11.1 years and the most affected age groups was the 41-50 years and 51-60 years. Predominance of female sex (85.71%) as well as an average of 5.2 ± 2.8 months of time of symptoms onset was observed. The main alterations observed were synovial effusion (54.7%), synovial thickening (28.5%), tenosynovitis in extensor tendons (28.5%), bone erosions (11.1%) and tenosynovitis in flexor tendons (9.52%). The radiocarpal joints were the most affected showing grade 1 synovial hypertrophy and synovitis in 12.7% and 7.9% of joints, respectively; grade 1 and 2 synovial effusion was observed in 15% of joints and small bone erosions in 7.9%. For the second metacarpophalangeal joint, grade I synovial hypertrophy was found in 8.7% of joints, synovitis in 6.3%, synovial effusion in 13.4% and medium-sized bone erosions in 1.5%; in 0.79% of the proximal interphalangeal joints grade I synovial effusion was observed. Tenosynovitis grade 1 was observed in 25.4% of extensor tendons and 7.9% flexors. The use of ultrasonography should be encouraged as a complementary tool for the diagnosis of RA, avoiding unnecessary expenses and delay in treatment(AU)

Air pollution and children's health-a review of adverse effects associated with prenatal exposure from fine to ultrafine particulate matter

BACKGROUND@#Particulate matter (PM), a major component of ambient air pollution, accounts for a substantial burden of diseases and fatality worldwide. Maternal exposure to PM during pregnancy is particularly harmful to children's health since this is a phase of rapid human growth and development.@*METHOD@#In this review, we synthesize the scientific evidence on adverse health outcomes in children following prenatal exposure to the smallest toxic components, fine (PM@*RESULTS@#Maternal exposure to fine and ultrafine PM directly and indirectly yields numerous adverse birth outcomes and impacts on children's respiratory systems, immune status, brain development, and cardiometabolic health. The biological mechanisms underlying adverse effects include direct placental translocation of ultrafine particles, placental and systemic maternal oxidative stress and inflammation elicited by both fine and ultrafine PM, epigenetic changes, and potential endocrine effects that influence long-term health.@*CONCLUSION@#Policies to reduce maternal exposure and health consequences in children should be a high priority. PM

Immune dysregulation syndrome caused by / 中国当代儿科杂志

A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the

Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome / 中华医学遗传学杂志

OBJECTIVE@#To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.@*METHODS@#Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature.@*RESULTS@#The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation.@*CONCLUSION@#Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.

Factores perioperatorios, inmunidad y recurrencia del cáncer / Perioperative factors, immunity and cancer recurrence

Introducción: Los criterios de calidad en la cirugía oncológica radical se basan en la extirpación completa del tumor, con márgenes libres, sin enfermedad macroscópica residual, con una linfadenectomía adecuada y mínima manipulación tumoral posible. A pesar de conseguir estos objetivos, puede quedar enfermedad residual no visible o micrometástasis, con potencial de crecimiento y diseminación dependiendo de la capacidad tumoral y de las defensas del huésped. Objetivos: Evaluar la influencia de los factores perioperatorios sobre la inmunidad del paciente oncológico intervenido quirúrgicamente y el efecto potencial de los fármacos anestésicos en la recurrencia, así como otros factores perioperatorios que pueden afectar la diseminación tumoral a largo plazo. Métodos: Se realizó una búsqueda bibliográfica electrónica de los artículos de los últimos 10 años que cumplieran con el objetivo trazado. Desarrollo: Durante el periodo perioperatorio la activación de la respuesta al estrés quirúrgico desencadena una serie de reacciones neuroendocrinas, humorales e inmunitarias complejas. La cirugía, con indudable potencial curativo, se relaciona con un estado de inmunosupresión por activación del eje HPA (hipotálamo- hipofisario- adrenal) y la inflamación. Por otro lado, la anestesia produce cambios biomoleculares que afectan la inmunidad celular y el número de NK (natural killer), que puede influir en la recurrencia del cáncer a largo plazo. Conclusiones: Disminuir el estrés quirúrgico y el psicológico, controlar el dolor quirúrgico, mantener normotermia, y una juiciosa transfusión sanguínea, además una técnica anestésica con disminución del consumo de opiáceos, puede resultar favorecedora para proteger la respuesta inmune antimetastásica del organismo y puede tener un efecto benéfico en la enfermedad oncológica(AU)

Introduction: The quality criteria in radical oncological surgery are based on complete tumor removal, with free margins, without residual macroscopic disease, with adequate lymphadenectomy and minimal possible tumor manipulation. Despite achieving these objectives, non-visible residual disease or micrometastasis may remain, likely to grow and spread depending on tumor capacity and the host's defenses. Objectives: To evaluate the influence of perioperative factors on the immunity of cancer patients operated on and the potential effect of anesthetic drugs on recurrence, as well as other perioperative factors that may affect long-term tumor spread. Methods: An electronic bibliographic search was carried out of the articles published in the last ten years and that fulfilled the established objective. Development: During the perioperative period, activation of the response to surgical stress triggers a series of complex neuroendocrine, humoral and immune reactions. Surgery, with unquestionable curative potential, is related to a state of immunosuppression due to activation of the hypothalamic-pituitary-adrenal axis and inflammation. On the other hand, anesthesia produces biomolecular changes that affect cellular immunity and the number of natural killers, which can influence cancer recurrence in the long term. Conclusions: To reduce surgical and psychological stress, to control surgical pain, to maintain normothermia, and a judicious blood transfusion, in addition to an anesthetic technique with reduced opiates usage, can be beneficial to protect the body's antimetastatic immune response and can have a beneficial effect on oncological disease(AU)

Nueva mutación identificada en el gen FOXP3 en lactante menor con diarrea crónica como manifestación de enteropatía autoinmune - síndrome IPEX / New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome

INTRODUCCIÓN: El síndrome IPEX (inmunodesregulación, poliendocrinopatía y enteropatía autoinmune ligada a X) causado por mutaciones en el gen FOXP3, se caracteriza por diarrea prolongada, alteraciones endocrinológicas y dermatitis. El tratamiento consiste en la administración de medicamentos inmunosupresores, siendo el trasplante de médula ósea la única cura potencial. OBJETIVO: Describir una nueva mutación del gen FOXP3, así como los hallazgos y evolución de un paciente con síndrome IPEX. CASO CLÍNICO: Lactante menor masculino que debutó al mes de vida con diarrea cró nica, falla intestinal e infecciones recurrentes. Exámenes de laboratorio y biopsia intestinal sugerentes de enteropatía autoinmune. Durante el seguimiento, el paciente presentó refractariedad al manejo inmunosupresor con esteroides, ciclosporina y tacrolimus, falleciendo a los 7 meses de edad por complicaciones vasculares. Antecedente familiar por línea materna de múltiples muertes en hombres menores de 1 año. Ante la sospecha de síndrome IPEX se realizó exoma en trío que reportó una mutación probablemente patogénica en el gen FOXP3. CONCLUSIÓN: Se documentó una nueva mutación del gen FOXP3 en paciente con síndrome IPEX. A pesar de la baja prevalencia de esta enfermedad, es importante el reconocimiento de síntomas no específicos pero sugerentes del diagnóstico.

INTRODUCTION: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syn drome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endo crine disorders, and dermatitis. The treatment is the administration of immunosuppressive drugs, where hematopoietic stem cell transplantation is the only potential cure. OBJECTIVE: To describe a new FOXP3 gene mutation, as well as the findings and evolution of a patient with IPEX syndrome. CLINICAL CASE: Male infant presenting at one month of age with chronic diarrhea, intestinal failure, and recurrent infections. Lab tests and intestinal biopsy suggested autoimmune enteropathy. During follow-up, the patient presented resistance to immunosuppressive treatment with corticosteroids, cyclosporine, and tacrolimus, dying at 7 months of age due to vascular complications. He had a ma ternal family history of multiple deaths of men under 1 year of age. IPEX syndrome was suspected therefore a trio whole-exome sequencing was performed that showed a probably pathogenic FOXP3 gene mutation. CONCLUSION: A new FOXP3 gene mutation is reported in a patient with IPEX syndro me. Despite the low prevalence of this disease, it is important to recognize non-specific but suggestive symptoms for its diagnosis.

Inflamación sistémica y desregulación inmune: rol en la patogénesis de la coinfección VIH/VHC / Systemic inflammation and immune dysregulation: role in the pathogenesis of HIV / HCV coinfection

La disfunción inmune asociada a la infección por el virus de la inmunodeficiencia humana (VIH) es generada por una estimulación crónica del sistema inmune secundaria a la imposibilidad del organismo de erradicar el virus. La misma se encuentra exacerbada en el contexto de la coinfección por el virus de la hepatitis C (VHC). La inflamación sistémica producto de la coinfección por ambos virus genera un aumento de la morbilidad y mortalidad en los individuos afectados. Son varios los mediadores solubles de activación inmunológica, como IP-10, TNF-α, IL-6, IL-1ß (marcadores de inflamación sistémica); IL-17 (linfocitos T CD4+ Th17); IL-2, IFN-γ (linfocitos T CD4+ Th1); IL-8 (inducción de neutrofilia); CD23s, ICAMs, CD14s, CD163s (marcadores de activación de monocitos/macrófagos), niveles circulantes de lipopolisacárido (LPS) (translocación bacteriana); entre otros. Actualmente se necesitan más estudios para lograr definir cuáles serían los biomarcadores de progresión óptimos para el seguimiento de los individuos coinfectados por VIH/VHC. El objetivo de esta revisión es realizar una reseña sobre los mecanismos inmunopatológicos de la infección por VIH/VHC involucrados en la inflamación, daño hepático y su impacto en la morbimortalidad de los individuos coinfectados

The immune dysfunction associated with Human Immunodeficiency Virus (HIV) infection is generated by a chronic stimulation of the immune system, because of the inability to eradicate the virus from the host. This immune dysfunction is exacerbated in the context of coinfection with Hepatitis C Virus (HCV). Systemic inflammation caused by coinfection with both viruses generates an increase in morbidity and mortality in affected individuals. There are several soluble mediators of immunological activation, such as IP-10, TNF-α, IL-6, IL-1ß (systemic inflammation markers); IL-17 (CD4+ T cells Th17); IL-2, IFN-γ (CD4+ T cells Th1); IL-8 (neutrophilia); CD23s, ICAMs, CD14s, CD163s, lipopolysaccharide (LPS) (monocyte/macrophage activation markers and bacterial translocation); among others. Currently, more studies are needed to define optimal progression biomarkers for the follow-up of HIV/HCV coinfected individuals. In this review, we focus on the immunopathological mechanisms of HIV/HCV infection involved in inflammation, liver damage and its impact on the morbidity and mortality of affected individuals

Multifocal motor neuropathy with Anti-GM1 antibody: A Filipino case report

@#As far as we are aware of, we report the fi rst documented case of a 51-year-old Filipino female with multifocal motor neuropathy who presented with asymmetric weakness, unusually in the lower extremity, and confi rmed with anti-GM1 antibody. The treatment of intravenous immunoglobulin with a total dose of 2 g/kg was initiated and repeated every two months with noticeable improvement based on electromyography and nerve conduction studies. Apart from the unreported Filipino case of multifocal motor neuropathy substantiated by features in clinical, electrophysiologic, antibody testing and response to immunotherapy, the unique occurrence in a female and involving the lower extremity in this rare disorder deserve this present documentation. Multifocal motor neuropathy is seen more in males with a ratio of 2.7:1. It is described as a pure motor disease without sensory defi cits and predominantly affects the upper extremities. The diagnosis for the disorder is supported by determination of ganglioside GM1 antibodies.

Characterization of Dental Surgeons of Pernambuco State in the COVID-19 Pandemic Context: Preliminary Data

Abstract Objective: To present the results of preliminary research on the characterization of dental surgeons in the state of Pernambuco, during a pandemic of COVID-19. Material and Methods: This is a cross-sectional, descriptive, and exploratory study, whose population was composed of dental surgeons with active enrollment in the Regional Dentistry Council of Pernambuco. Data collection was performed using an electronic form and included characterization of professionals (gender, age, time since graduation, marital status, family income and field of work) and health status (vaccination schedule, presence of comorbidities, biosafety knowledge and testing for COVID-19). Preliminary data correspond to the first week of collection, which were analyzed from the frequency, proportions, and measures of central tendency distributions. Results: Of the 363 dental surgeons, for the field of work, 38.6% work in both the public and private sectors. Comorbidities related to the worsening of COVID-19 were identified in 35.0% of participants, 24.5% are not up to date with influenza and hepatitis vaccines, and 79.3% have not been tested for COVID-19. Regarding the biosafety instructions for COVID-19, 30.7% received no training. Conclusion: It is necessary to immunize dental surgeons to prevent immunological diseases and expansion of the testing capacity for COVID-19, especially for professionals belonging to the risk group. In addition to guaranteeing the offer of qualification courses on biosafety, which is essential for the safe resumption of activities.

Relación entre hipotiroidismo y artritis reumatoide / Relationship between hypothyroidism and rheumatoid arthritis

Introducción: el hipotiroidismo es una enfermedad sistémica, crónica caracterizada por la disminución de la producción de hormonas tiroideas, en muchas ocasiones el trastorno inmunológico forma parte del mecanismo etiopatogénico de la enfermedad. Se asocian con otras enfermedades autoinmunes como es el caso de la artritis reumatoide, generando de esta forma un complejo cortejo sintomático en el que ambas afecciones pueden coexistir provocando importantes grados de discapacidad funcional y de disminución de la percepción de calidad de vida relacionada con la salud. Objetivo: describir la relación existente entre las enfermedades tiroideas y la artritis reumatoide. Método: estudio descriptivo en 265 pacientes con artritis reumatoide según los criterios del Colegio Americano de Reumatología para describir la relación entre esta enfermedad y los trastornos de la glándula tiroides. Se utilizó coeficiente de correlación de Pearson para determinar la relación existente entre ambas afecciones. Resultados: promedio de edad general de 58,39 años y de pacientes con hipotiroidismo de 66,32 años. Predominio de pacientes femeninas (76,98 por ciento ) y con tiempo de evolución entre 3 y 5 años. El 29,81 por ciento de los casos presentó diagnóstico de hipotiroidismo confirmado, con predominio en pacientes femeninas (86,08 por ciento ), edad mayor de 65 años (49,37 por ciento ) y tiempo de evolución de la artritis reumatoide mayor de cinco años (53,16 por ciento ). Conclusiones: existe un elevado por ciento de pacientes con hipotiroidismo y artritis reumatoide; aunque ambas afecciones comparten mecanismos inmunológicos comunes, no se encuentra una relación directa entre ambas, no pudiéndose establecer una relación causa efecto entre ambas afecciones(AU)

Introduction: hypothyroidism is a systemic, chronic disease characterized by decreased production of thyroid hormones, in many cases the immune disorder is part of the etiopathogenic mechanism of the disease. They are associated with other autoimmune diseases such as rheumatoid arthritis, thus generating a complex symptomatic courtship in which both conditions can coexist leading to significant degrees of functional disability and decreased perception of quality of life related to health. Objective: to describe the relationship between thyroid diseases and rheumatoid arthritis. Method: descriptive study in 265 patients with rheumatoid arthritis according to the criteria of the American College of Rheumatology to describe the relationship between this disease and disorders of the thyroid gland. Pearson's correlation coefficient was used to determine the relationship between both conditions. Results: average age of 58.39 years and of patients with hypothyroidism of 66.32 years. Predominance of female patients (76.98 percent) and with evolution time between 3 and 5 years. The 29.81 percent of the cases presented a diagnosis of confirmed hypothyroidism, with predominance in female patients (86.08 percent), age over 65 years (49.37 percent) and time of evolution of rheumatoid arthritis greater than five years (53.16 percent). Conclusions: there is a high percentage of patients with hypothyroidism and rheumatoid arthritis; although both conditions share common immunological mechanisms, there is no direct relationship between the two, and a causal relationship can´t be established between the two conditions(AU)

Relación entre los factores sociodemográficos y la calidad de vida en pacientes con lupus eritematoso sistémico / Relationship between sociodemographic factors and the quality of life in patients with systemic lupus erythematosus

El lupus eritematoso sistémico (LES) es una enfermedad autoinmune que puede tener repercusiones negativas en la calidad de vida (CV) de quienes la padecen. La CV puede verse influida por factores sociodemográficos (FSD) relacionados con la enfermedad en sí. Objetivo: Determinar la relación entre los FSD y la CV en pacientes con LES. Métodos: Estudio descriptivo, de corte transversal, de campo y observacional, donde se evaluaron 100 pacientes con diagnóstico de LES. Se emplearon dos encuestas: una para la recolección de datos sociodemográficos y el formulario de la Escala GENCAT. Resultados: La edad promedio fue 42,9 años ± 13,5, el sexo más afectado fue femenino con 93%, los años de estudio promedio fueron 11,4 años ± 4,4 y el tiempo de evolución del LES promedio fue 11,1 años ± 9,5. La CV según el formulario de la Escala GENCAT fue aceptable; la edad avanzada y mayor tiempo de evolución de LES se asoció con menor CV, y mayor escolaridad se asoció con mayor CV. Conclusiones: La CV fue aceptable según la Escala GENCAT, y se encontraron asociaciones entre la CV y edad, años de estudio y tiempo de evolución del LES que fueron estadísticamente significativas(AU)

Systemic lupus erythematosus (SLE) is an autoimmune disease that can have a negative impact on the quality of life (QoL) of those who suffer from it. QoL may be influenced by sociodemographic factors (SDF) related to the disease itself. Objective: Determine the relationship between the SDF and the QoL in patients with SLE. Methods: Descriptive, cross-sectional, field and observational study, where 100 patients with a diagnosis of SLE were evaluated. Two surveys were used: one for the collection of sociodemographic data and the GENCAT Scale form. Results: The average age was 42.9 years ± 13.5, the most affected sex was female with 93%, the average study years were 11.4 years ± 4.4 and the evolution time of the average SLE was 11.1 year ± 9.5. TheQoL according to the GENCAT Scale form was acceptable; the advanced age and longer time of evolution of SLE was associated with lower QoL, and higher schooling was associated with higher QoL. Conclusions: The QoL was acceptable according to the GENCAT Scale, and associations were found between the QoL and age, years of study and time of evolution of the disease, which were statistically significant(AU)