Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.

Encefalitis autoinmune posherpética. Caso clínico pediátrico / Autoimmune post-herpes simplex encephalitis. A pediatric clinical case report

La encefalitis por virus herpes simple (VHS) es una causa frecuente de encefalitis grave y potencialmente fatal. La encefalitis autoinmune posherpética (EAPH) afecta a un porcentaje de los pacientes que han presentado encefalitis herpética (EH) y se caracteriza por la aparición de nuevos síntomas neurológico/psiquiátricos, y/o por el empeoramiento de los déficits adquiridos durante la infección viral dentro de un lapso temporal predecible. Se produce por un mecanismo no relacionado con el VHS, sino por fenómenos autoinmunes, y es susceptible de tratamiento con inmunomoduladores. Se presenta el caso de un varón de 5 años de edad con EAPH que requirió tratamiento inmunomodulador, de primera y segunda línea, con buena evolución y remisión de los síntomas.

Herpes simplex virus (HSV) encephalitis is a common cause of severe and potentially fatal encephalitis. Autoimmune post-herpes simplex encephalitis (AIPHSE) affects a percentage of patients who developed herpes simplex encephalitis (HSE) and is characterized by the onset of new neurological/psychiatric symptoms and/or worsening of deficits acquired during the herpes infection within a predictable time frame. It is caused by a mechanism not related to HSV, but by autoimmune conditions, and is susceptible to treatment with immunomodulators. Here we describe the case of a 5-year-old boy with AIPHSE who required first- and second-line immunomodulatory treatment, with an adequate course and remission of symptoms.

Papel inmunomodulador de la vitamina D y los ácidos grasos poliinsaturados omega-3 en trastornos autoinmunes: Revisión de la Literatura / Immunomodulatory role of vitamin D and omega-3 polyunsaturated fatty acids in autoinmune disorders: Literature Review

Los trastornos autoinmunes representan una familia de al menos 80 condiciones diferentes que surgen de una respuesta aberrante del sistema inmunológico resultando finalmente en la destrucción de tejidos y órganos específicos del cuerpo. Es importante destacar que durante las últimas tres décadas los estudios epidemiológicos han proporcionado evidencia de un aumento constante en la incidencia y prevalencia de trastornos autoinmunes. En los últimos años, varios estudios han demostrado que la vitamina D y los ácidos grasos poliinsaturados (AGPs) omega-3 ejercen propiedades inmunomoduladoras y antiinflamatorias sinérgicas que pueden aprovecharse positivamente para la prevención y el tratamiento de trastornos autoinmunes. En este sentido, el reciente ensayo clínico denominado VITAL (ensayo de vitamina D y omega 3); un estudio a gran escala, aleatorizado, doble ciego, controlado con placebo encontró que la suplementación conjunta de vitamina D y AGPs omega-3 (VIDOM) puede reducir la incidencia de enfermedades autoinmunes. En esta revisión de la literatura, resumimos los mecanismos moleculares detrás de las propiedades inmunomoduladoras y antiinflamatorias de la vitamina D y los AGPs omega-3, así como la posible interacción bidireccional entre el metabolismo de la vitamina D y el metabolismo de los AGPs omega-3 que justifica la co- suplementación VIDOM en trastornos autoinmunes(AU)

Autoimmune disorders represent a family of at least 80 different conditions that arise from an aberrant immune system response, which ultimately results in the destruction of specific body tissues and organs. It is important to highlight that during the last three decades epidemiological studies have provided evidence of a steady increase in the incidence and prevalence of autoimmune disorders. In recent years, several studies have shown that vitamin D and omega-3 polyunsaturated fatty acids (PUFAs) exert synergistic immunomodulatory and anti-inflammatory properties that can be positively harnessed for the prevention and treatment of autoimmune disorders. In this sense, the recent clinical trial called VITAL (Vitamin D and Omega 3 trial) - a large, randomized, double-blind, placebo- controlled study - found that co-supplementation of vitamin D and omega-3 PUFAs (VIDOM) can reduce the incidence of autoimmune diseases. In this literature review, we summarize the molecular mechanisms behind the immunomodulatory and anti-inflammatory properties of vitamin D and omega-3 PUFAs, as well as the possible bidirectional interaction between vitamin D metabolism and omega-3 PUFA metabolism that justifies VIDOM co- supplementation in autoimmune disorders(AU)

Presencia de autoanticuerpos anti islotes pancreáticos en diabetes tipo 1 durante la edad pediátrica / Presence of anti-pancreatic islet autoantibodies in type 1 diabetes in children

En la Diabetes tipo 1 (DM1) la pérdida de células ß pancreáticas es consecuencia de un proceso de autoinmunidad que cursa con la presencia de autoanticuerpos anti-islotes pancreáticos (AAPs). Estos AAPs son marcadores útiles para la clasificación de la enfermedad. En un centro pediátrico de tercer nivel se analizó la frecuencia de presentación de GADA, IA-2A, ZnT8A e IAA en un grupo con reciente debut entre enero 2018 y agosto 2021 (n= 90). Además, se investigó la frecuencia de presentación y relación de los AAPs con la edad, sexo y tiempo de evolución en pacientes en seguimiento (n= 240). En el grupo de debut se obtuvo positividad de GADA, IA-2A, ZnT8A y IAA en 77,8; 60; 62 y 47,8% de los pacientes respectivamente, un 4% no presentó AAPs. El 95,6% de los pacientes presentaron al menos un AAPs positivo. La frecuencia de IAA en el grupo en debut fue mayor en menores de 5 años. En el grupo en seguimiento el 75,2% resultaron GADA positivo (85,7% en mujeres y 62,8% en varones) p<0,05. IA-2A y ZnT8A fueron positivos en 45 y 51.7% respectivamente. El 91% presentaron al menos un AAP positivo. En este grupo se evidenció una menor positividad en función del tiempo de evolución. Se pudo determinar la frecuencia de presentación de los AAPs en un grupo en debut y la relación con la edad, sexo y tiempo de evolución en pacientes en seguimiento. La determinación de APPs facilita la correcta clasificación y elección de la terapia adecuada (AU)

In type 1 diabetes (DM1) the loss of pancreatic ß-cells is a consequence of an autoimmune process that results in the presence of pancreatic anti-islet autoantibodies (PAAs). PAAs are useful markers for the classification of the disease. The frequency of presentation of GADA, IA-2A, ZnT8A, and IAA in a group with recent debut seen between January 2018 and August 2021 (n= 90) was analyzed in a tertiary pediatric center. In addition, we investigated the frequency of presentation and association of PAAs with age, sex, and time of evolution in patients in follow-up (n= 240). In the debut group, GADA, IA2A, ZnT8A, and IAA positivity was found in 77.8, 60, 62, and 47.8% of patients, respectively; no PAAs were observed in 4% of the patients. Overall, 95.6% presented at least one positive PAA. The frequency of IAA in the debut group was higher in children younger than 5 years. In the follow-up group, 75.2% were GADA positive (85.7% of females and 62.8% of males) p<0.05. IA-2A and ZnT8A were positive in 45 and 51.7% respectively. Ninety-one percent presented with at least one positive PAA. In this group, a lower positivity was evidenced as a function of the time of evolution. The frequency of presentation of PAAs in a debut group and the relationship with age, sex, and time of evolution in patients in follow-up was demonstrated. The assessment of PAAs facilitates the correct classification and choice of adequate therapy (AU)

Uso adecuado de las pruebas de laboratorio para la evaluación de la función tiroidea en pediatría / Appropriate use of laboratory tests for evaluation of thyroid function in pediatrics

Las pruebas de función tiroidea (PFT) son esenciales para el diagnóstico preciso y el seguimiento eficaz de la disfunción tiroidea. Existe un incremento progresivo y estable de los pedidos de PFT, incluso se han incorporado las mismas a los exámenes de salud anuales en niños sanos. Representan más del 60% de las pruebas realizadas en el laboratorio de endocrinología, tanto en adultos como en los laboratorios especializados en pediatría. Para hacer un uso eficiente de las PFT, antes de solicitarlas debemos preguntarnos… ¿Para quién? ¿Cuándo solicitarlas? ¿Qué pruebas solicitar? ¿Cómo solicitarlas? y ¿Cómo interpretar correctamente los resultados? Un resultado anormal en las PFT no siempre implica patología tiroidea asociada. Las PFT tienen importante variabilidad intra e interindividual lo que hace más compleja su correcta interpretación. La pesquisa de enfermedad tiroidea neonatal es un importante aporte a la prevención de la deficiencia mental en la infancia, su aplicación obligatoria posibilita un diagnóstico temprano, para asegurar su éxito debe considerarse en el marco de un programa integral de detección con estrategias de confirmación, tratamiento temprano y seguimiento a corto, mediano y largo plazo. No debe hacerse un uso indiscriminado de la prueba de estímulo con TRH en el diagnóstico de la patología tiroidea. En pediatría la estrategia de tamiz de enfermedad tiroidea es conveniente realizarla mediante la medición de por lo menos TSH y T4 libre e incluir la determinación de ATPO en grupos de riesgo, a diferencia de la determinación aislada de TSH como es recomendado en adultos. (AU)

Thyroid function tests (TFTs) are essential for accurate diagnosis and effective monitoring of thyroid dysfunction. There is a progressive and steady increase in requests for TFTs, and they have even been incorporated into annual health examinations in healthy children. They represent more than 60% of the tests performed in the endocrinology laboratory, both in adults and in specialized pediatric laboratories. To efficiently use TFTs, before requesting them we should ask ourselves... For whom? When to request them? Which tests to request? How to request them? and How to correctly interpret the results? An abnormal TFT result does not always imply thyroid disease. TFTs have significant intra- and inter-individual variability, which makes their correct interpretation more complex. Screening for newborn thyroid disease is an important contribution to the prevention of intellectual disability in childhood and its mandatory use enables early diagnosis; however, to ensure the test to be successful, it should be considered within the framework of a comprehensive screening program with strategies for confirmation, early treatment, and short-, medium-, and long-term follow-up. The TRH stimulation test in the diagnosis of thyroid disease should not be used indiscriminately. In children, the screening strategy for thyroid disease should be performed by measuring at least TSH and free T4 and include the measurement of TPO-ab in risk groups, as opposed to the isolated measurement of TSH as recommended in adults. (AU)

Uso de PCR digital para definir terapéuticas específicas y seguimiento en enfermedades autoinflamatorias / Use of digital PCR to define specific therapeutics and follow-up in autoinflammatory diseases

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)

Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)

Reabilitação com prótese bucomaxilofacial: revisão de literatura / Rehabilitation with maxillofacial prosthetics

A odontologia reabilitadora tem como um dos seus ramos a especialidade de Prótese Bucomaxilofacial (PBMF), que visa restaurar ou substituir estruturas perdidas na região facial e no sistema estomatognático artificialmente, podendo ser ou não removidos pelo paciente. O presente trabalho objetiva revisar a leitura a respeito da reabilitação com PBMF e a sua aplicabilidade na clínica odontológica. Os indivíduos com alguma perda de estrutura na região de cabeça e pescoço, devido a traumas físicos e/ou químicos, defeitos congênitos, doenças autoimunes, neoplasias, infecções e parasitas, são pacientes para os quais há a indicação da reposição da parte ausente. As reconstruções podem ser perdas intraorais (área da maxila, mandíbula), extraorais (oculopalpebral, ocular, nasal, facial extensa e auricular) ou conjugadas. Esse é um trabalho multidisciplinar, com especialistas de áreas abrangentes e todos os especialistas trabalham de forma conjunta. Pode-se concluir que, embora seja uma das especialidades mais nobres da odontologia, ainda é muito desconhecida por parte dos estudantes e profissionais das áreas da saúde e são próteses absolutamente fundamentais para a reabilitação e qualidade de vida dos indivíduos que tem a necessidade do uso da prótese PBMF(AU)

Rehabilitating dentistry has as one of its branches the specialty of Oral and Maxillofacial Prosthesis (PBMF), which aims to restore or replace structures lost in the facial region and in the stomatognathic system artificially, which may or may not be removed by the patient. The present study aims to review the reading about rehabilitation with PBMF and its applicability in dental clinic. Individuals with some loss of structure in the head and neck region, due to physical and/or chemical trauma, birth defects, autoimmune diseases, neoplasms, infections and parasites, are patients in whom there is an indication for replacement of the absent part. Reconstructions can be intraoral (maximal area, mandible), extraoral (oculopalpebral, ocular, nasal, extensive facial and auricular) or conjugated losses. It is a multidisciplinary work, with specialists from the comprehensive areas and that all specialists work together. It can be concluded that although it is one of the noblest specialties of dentistry, it is still very unknown to students and health professionals, and they are absolutely fundamental prostheses for the rehabilitation and quality of life of individuals who need the use the PBMFprosthesis(AU)

Diabetes tipo 1 y Miastenia Gravis / Type-1 Diabetes and Myasthenia Gravis

Introducción: El desarrollo de la tolerancia inmunológica frente a los autoantígenos se denomina autotolerancia. La Diabetes Mellitus tipo 1A (1ADM) es un trastorno metabólico secundario a la destrucción autoinmune de las células beta pancreáticas e insulitis. La miastenia grave (MG) es una enfermedad autoinmune causada por el bloqueo postsináptico de la placa mioneural por AAcs contra los receptores de acetilcolina (ACRA) o contra moléculas de la membrana postsináptica. La asociación entre DM1A y MG se puede observar en el síndrome poliglandular tipo III, caracterizado por enfermedad autoinmune de la glándula tiroides asociada con otras entidades autoinmunes. Método: Reporte de Casos, cuatro pacientes entre 7-19 años, con asociación de MG y DM1A atendidos en el Hospital Garrahan. Conclusión: La Tiroiditis de Hashimoto y la Enfermedad Celíaca son las enfermedades autoinmunes relacionadas más frecuentemente con DM1A en nuestra población. La bibliografía describe la asociación de MG y Tiroiditis de Hashimoto y su coexistencia con DM1A se describe en el Síndrome Poliglandular III. En este trabajo presentamos 4 casos de DM1A asociado con MG fuera de dicho síndrome (AU)

Introduction: The development of immune tolerance to autoantibodies (AAbs) is referred to as self-tolerance. Type 1A Diabetes Mellitus (1ADM) is a metabolic disorder secondary to autoimmune destruction of pancreatic beta cells and insulitis. Myasthenia gravis (MG) is an autoimmune disease caused by postsynaptic blockade of the myoneural plate by AAbs against acetylcholine receptors (Acra) or against postsynaptic membrane molecules. The association between 1ADM and MG may be observed in polyglandular syndrome type III, characterized by autoimmune disease of the thyroid associated with other autoimmune conditions. Methods: Case report; four patients between 7-19 years old, with an association of MG and 1ADM seen at the Garrahan Hospital. Conclusion: Hashimoto's thyroiditis and celiac disease are autoimmune diseases most frequently related to 1ADM in our population. In the literature, the association of MG and Hashimoto's thyroiditis has been described and its coexistence with 1ADM is reported in polyglandular syndrome III. In this study we present 4 cases of 1ADM associated with MG unrelated to this syndrome. (AU)

Hipertiroidismo por enfermedad de Graves posterior a vacuna contra SARS-CoV-2: reporte de 2 casos / Graves' disease hyperthyroidism following SARS-CoV-2 vaccination: a two cases report

Luego del inicio de las campañas de vacunación masiva contra la infección por COVID-19, se han publicado una serie de reportes que muestran la posible asociación entre la vacuna y alteraciones de la función tiroidea. Desde entonces, múltiples teorías han intentado explicar este hallazgo, en su mayoría de índole autoinmune. Dentro de estas destaca el síndrome autoinmune-autoinflamatorio secundario a adyuvantes (ASIA), que podría generar desórdenes tiroideos de novo o exacerbar los ya existentes. Presentamos dos casos de enfermedad de Graves Basedow posterior al uso de Coronavac. Ambas pacientes presentaron características similares a las descritas en la literatura y cumplen con los criterios de ASIA. No obstante, los beneficios de las vacunas superan los posibles riesgos asociados.

After the beginning of COVID-19 vaccination campaigns, a number of reports have shown the potential association between vaccines and thyroid disfunction. Since then several theories have tried to explain this finding, mostly autoinmmune. One of them is the autoimmune/inflammatory syndrome induced by adjuvants, that could trigger or exacerbate thyroid disease. We present two cases of Graves' disease post Coronavac vaccination. Both pacients share similar features than cases published previously and meet criteria for ASIA syndrome. Nevertheless, the benefts of vaccination largely outweigh any adverse events associated.

Síndrome autoimune induzida por adjuvantes (ASIA) sinais e sintomas experienciados por mulheres / Implementation of an intravenous therapy team based on convergent-assistance research / Síndrome autoinmune inducido por adyuvante (ASIA) signos y síntomas experimentados por mujeres

Objetivo: Identificar sinais e sintomas experienciados por mulheres com síndrome autoimune induzida por adjuvantes (ASIA) devido ao uso de prótese mamária e os tratamentos realizados. Método: Estudo de campo de abordagem qualitativa realizado por meio de entrevistas online utilizan-do-se a técnica bola de neve. Incluíram-se 13 participantes. Resultados: A partir da análise dos dados, foram elencadas quatro categorias: conhecimento acerca da síndrome; sinais e sintomas; tratamento; e cuidados e implicações de Enfermagem. Identificaram-se mais de 120 sinais e sintomas, e o explante foi mencionado como tratamento definitivo por todas as entrevistadas. Os sinais e sintomas apresentados pelas participantes vão ao encontro do que é descrito pela literatura. Conclusão: Antes da descoberta da doença, as participantes realizaram tratamento com foco no alívio dos sintomas. Após o diag-nóstico, todas as mulheres procederam com o explante

Objective: To identify signs and symptoms experienced by women with autoimmune/inflammatory syndrome induced by adjuvants (ASIA) due to the use of breast implants and the treatments performed. Method: Field study with a qualitative approach carried out through online interviews using the snowball technique. 13 participants were included. Results: Based on data analysis, four categories were listed: knowledge about the syndrome; signs and symptoms; treatment; and nursing care and implications. Over 120 signs and symptoms were identified, and the explant was mentioned as a defi-nitive treatment by all interviewees. The signs and symptoms presented by the participants are in line with what is described in the literature. Conclusion:Before discovering the disease, the participants underwent treatment focused on symptom relief. After diagnosis, all women proceeded with the explant.Keywords: Autoimmune diseases. Prothesis implantation. Breast implantation. Silicones. Perioperative nursing

Objetivo: Identificar los signos y síntomas experimentados por mujeres con síndrome autoinmune inducido por adyuvantes (ASIA) debido al uso de implantes mamarios y los tratamientos realizados. Método: Estudio de campo con enfoque cualitativo realizado a través de entrevistas en línea utilizando la técnica de bola de nieve. Se incluyeron 13 participantes. Resultados: Con base en el análisis de los datos, se enumeraron cuatro categorías: conocimiento sobre el síndrome; signos y síntomas; tratamiento; y cuidados e implicaciones de enfermería. Se identificaron más de 120 signos y sínto-mas, y todos los entrevistados mencionaron el explante como tratamiento definitivo. Los signos y síntomas presentados por los participantes están en línea con lo descrito en la literatura. Conclusión: Antes de descubrir la enfermedad, los participantes realizaban un tratamiento enfocado en el alivio de los síntomas. Después del diagnóstico, todas las mujeres procedieron al explante

Psicologia e diabetes no Brasil: um mapeamento de profissionais e de suas ações / Psychology and diabetes in Brazil: the mapping of professionals and their practices / Psicología y diabetes en Brasil: un mapeo de los profesionales y sus acciones

Pouco se sabe sobre a atuação do psicólogo no Brasil junto a pessoas com Diabetes Mellitus. O objetivo desta pesquisa foi identificar os psicólogos brasileiros que trabalham com essa população e suas ações. Foram convidados a responder a um questionário online psicólogos que atuam ou atuaram junto a pessoas com diabetes. Participaram 79 psicólogos, principalmente da região Sudeste (59,5%). Todos declararam que haviam cursado pósgraduação. Na amostra, predominou o gênero feminino (89,9%), com idade entre 26 e 40 anos (46,8%). A maioria dos que atuam com diabetes declarou-se autônoma ou voluntária, e quase metade trabalhava menos do que 10 horas semanais. Entre aqueles que deixaram de trabalhar com diabetes, apenas uma minoria tinha vínculo empregatício. Além do trabalho com pessoas com diabetes, a maior parte declarou exercer outras atividades profissionais, como atendimentos clínicos em consultórios particulares, sugerindo que esta não é a atividade principal. Majoritariamente, os respondentes declararam não ter conhecimentos suficientes para o atendimento específico às pessoas com diabetes. Discute-se a qualidade da formação profissional dos psicólogos no Brasil, a necessidade de aprimoramento em relação à atuação com pessoas com diabetes e as condições de trabalho.(AU)

Little is known about the practice of psychologists in Brazil caring for people with Diabetes Mellitus. The aim of this research was to identify the Brazilian psychologists who work with this population and describe their actions. Psychologists who work or have worked with people diagnosed with diabetes were invited to answer an online questionnaire. The 79 participants lived mainly in the Southeast Region (59.5%). All of them declared to have a graduate degree, most were female (89.9%), aged 26 to 40 years (46.8%). Most of those working with diabetes declared to be autonomous or voluntary, and almost half had a workload of less than 10 hours a week. Among those who stopped working with diabetes, only a minority had a formal employment contract. In addition, most of them stated that they had other professional activities related to clinical care in private offices, suggesting that working with diabetes is not their main activity. Mostly, respondents stated that they did not have enough knowledge to care for people with diabetes. The quality of professional education of psychologists in Brazil, the need for specific improvement in labor relations and conditions were discussed.(AU)

Son escasas las informaciones del trabajo de los psicólogos en Brasil con las personas con Diabetes Mellitus. El objetivo de este estudio fue identificar los psicólogos brasileños que trabajan con esta población y describir sus acciones. Se invitó a psicólogos que trabajan o hayan trabajado con personas con diabetes a responder un cuestionario en línea. Participaron 79 psicólogos, principalmente de la región Sureste de Brasil (59,5%). Todos declararon tener posgrado. En la muestra hubo una mayor prevalencia del género femenino (89,9%), de edades de entre 26 y 40 años (46,8%). La mayoría de los que trabajan con personas con diabetes se declararon autónomos o voluntarios, y casi la mitad trabajaba menos de 10 horas a la semana. Entre los que dejaron de trabajar con las personas con diabetes, solo una minoría tenía una relación laboral. Además de trabajar con personas con diabetes, la mayoría afirmó tener otras actividades profesionales, como la atención clínica en consultorios privados, lo que sugiere que esta no es su actividad principal. La mayoría de los encuestados afirmaron que no tenían los conocimientos suficientes para atender específicamente a las personas con diabetes. Se discuten la calidad de la formación profesional de los psicólogos en Brasil, la necesidad de mejora en relación con el trabajo con personas con diabetes y las condiciones laborales.(AU)

Impact de la pandémie de COVID-19 sur le suivi des maladies systémiques: enquête transversale multicentrique à Dakar / How the outbreak of COVID-19 did affected the follow-up of patients known for an autoimmune or autoinflammatory systemic diseases in Dakar

Introduction : La pandémie de covid-19 a eu un impact sur les systèmes de santé, entravant la prise en charge optimale des maladies chroniques. L'objectif de notre étude était d'évaluer son impact sur le suivi des pathologies systémiques. Patients - Méthodes : Nous avons mené une enquête transversale multicentrique dans les services de Médecine Interne, de Rhumatologie et de Néphrologie à Dakar. Les patients étaient inclus en accord avec les critères de consensus internationaux. L'enquête a porté sur les dossiers concernant 13 questions et a été complétée par un entretien téléphonique avec 38 questions potentielles. Les réponses étaient collectées grâce à une application Web puis exportées et analysées avec le logiciel SPSS 26.0. Résultats : Du 1er Août au 31 Octobre 2021, 131 patients ont été inclus avec un âge moyen de 41,5 ans (+/-12,4) et un sex-ratio de 0,08. Les pathologies inflammatoires étaient dominées par la polyarthrite rhumatoïde (47,3%) et le lupus systémique (22,9%). Les patients ont rapporté avoir raté un ou plusieurs rendez-vous de suivi dans 45% des cas. Les motifs étaient dominés par une difficulté d'obtenir un rendez-vous de suivi (18,6%) et la peur de fréquenter les hôpitaux (16,9%). Une rupture médicamenteuse a été notée dans 33,6% des cas et concernait notamment l'hydroxychloroquine (40,9%) ou le méthotrexate (47,7%) avec comme raison principale les ruptures de stock en pharmacie et les difficultés économiques. Une poussée de la maladie systémique a été rapportée dans 31% des cas corrélée à la rupture médicamenteuse. Onze (11) patients ont présenté une infection confirmée à SARS CoV-2. Conclusion : La pandémie de covid-19 a eu un impact non négligeable sur le suivi des patients atteints de maladies inflammatoires systémiques. Elle a mis en exergue l'intérêt de la réorganisation de la prise en charge de ces patients en période de crise sanitaire, l'éducation thérapeutique des patients et le recours à la télémédecine pour assurer la continuité des soins.

Introduction: The covid-19 pandemic has had an impact on health systems, compromising the optimal management of chronic diseases such as systemic autoimmune and autoinflammatory diseases. The aim of our study was to assess its impact on the follow-up of systemic diseases in Dakar. Patients - Methods: We conducted a multicentre cross-sectional survey in the departments of Internal Medicine, Rheumatology and Nephrology in Dakar. Patients were included in accordance with international consensus criteria. The survey was based on records of 13 questions and was completed by a telephone interview with 38 potential questions. Responses were collected using a web-based application and then exported and analyzed using SPSS 26.0 software. Results: From 1 August to 31 October, 131 patients were included with a mean age of 41.5 years (+/-12.4) and a sex-ratio of 0.08. Inflammatory diseases were dominated by rheumatoid arthritis (47.3%) and systemic lupus erythematosus (22.9%). Patients reported missing one or more follow-up appointments in 45% of the cases. The reasons were dominated by difficulty in obtaining a follow-up appointment (18.6%) and fear of attending hospitals (16.9%). A drug shortage was also reported in 33.6% of the cases and concerned in particular hydroxychloroquine (40.9%) or methotrexate (47.7%), with the main reason being stock shortages in pharmacies and economic difficulties. A flare-up of the systemic disease was reported in 31% of the cases correlated with the drug rupture. Only 11 patients had a confirmed SARS CoV-2 infection. Conclusion: The covid-19 pandemic has had a significant impact on the follow-up of patients with systemic inflammatory diseases. It highlighted the interest of reorganizing the follow-up of these patients during a health crisis, the patient education and the use of telemedicine to ensure continuity of care

The critical importance of epigenetics in autoimmune-related skin diseases / 医学前沿

Autoimmune-related skin diseases are a group of disorders with diverse etiology and pathophysiology involved in autoimmunity. Genetics and environmental factors may contribute to the development of these autoimmune disorders. Although the etiology and pathogenesis of these disorders are poorly understood, environmental variables that induce aberrant epigenetic regulations may provide some insights. Epigenetics is the study of heritable mechanisms that regulate gene expression without changing DNA sequences. The most important epigenetic mechanisms are DNA methylation, histone modification, and noncoding RNAs. In this review, we discuss the most recent findings regarding the function of epigenetic mechanisms in autoimmune-related skin disorders, including systemic lupus erythematosus, bullous skin diseases, psoriasis, and systemic sclerosis. These findings will expand our understanding and highlight the possible clinical applications of precision epigenetics approaches.

IL-27: a novel cytokine mediating immune related diseases / 生理学报

Interleukin 27 (IL-27) is a pleiotropic cytokine that is involved in the regulation of the body's innate and adaptive immunity. Previous studies have shown that IL-27 mediates a variety of inflammatory responses in vivo. With the development of animal models and technical tools, several studies have shown that it is also closely associated with autoimmune diseases and other immune related diseases, and is considered as an important candidate for the treatment of viral disease, autoimmune diseases, tumors and obesity. Therefore, this paper reviews recent progress on the role of IL-27 in acquired immunodeficiency syndrome (AIDS), rheumatoid arthritis, tumors and obesity, with the aim of providing new ideas for the treatment of immune related diseases.

Anti-HMGCR immune-mediated necrotizing myopathy: A case report / 北京大学学报(医学版)

The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.

Research progress on genetic control of host susceptibility to tuberculosis / 浙江大学学报·医学版

The "Lübeck disaster", twins studies, adoptees studies, and other epidemiological observational studies have shown that host genetic factors play a significant role in determining the host susceptibility to Mycobacterium tuberculosis infection and pathogenesis of tuberculosis. From linkage analyses to genome-wide association studies, it has been discovered that human leucocyte antigen (HLA) genes as well as non-HLA genes (such as SLC11A1, VDR, ASAP1 as well as genes encoding cytokines and pattern recognition receptors) are associated with tuberculosis susceptibility. To provide ideas for subsequent studies about risk prediction of MTB infection and the diagnosis and treatment of tuberculosis, we review the research progress on tuberculosis susceptibility related genes in recent years, focusing on the correlation of HLA genes and non-HLA genes with the pathogenesis of tuberculosis. We also report the results of an enrichment analysis of the genes mentioned in the article. Most of these genes appear to be involved in the regulation of immune system and inflammation， and are also closely related to autoimmune diseases.

Clinical features of autoimmune glial fibrillary acidic protein astrocytopathy in children: an analysis of 34 cases / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features of children with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).@*METHODS@#A retrospective analysis was performed on the medical data of 34 children with GFAP-A who attended the Department of Neurology, Children's Hospital of Chongqing Medical University, from January 2020 to February 2022. The medical data included clinical manifestations, cerebrospinal fluid features, imaging examination results, treatment, and prognosis.@*RESULTS@#The median age of onset was 8.4 (range 1.9-14.9) years for the 34 children with GFAP-A. The main clinical manifestations included headache (50%, 17/34), fever (47%, 16/34), visual impairment (47%, 16/34), and disturbance of consciousness (44%, 15/34). Abnormal cerebrospinal fluid results were observed in 19 children (56%, 19/34), among whom 8 children had positive autoantibody. The children with overlap syndrome had significantly higher recurrence rate and rate of use of immunosuppressant than those without overlap syndrome (P<0.05). About 77% (24/31) of the children had good response to immunotherapy, and only 1 child had poor prognosis.@*CONCLUSIONS@#Children with GFAP-A often have non-specific clinical symptoms and show good response to immunotherapy. Children with overlap syndrome have a high recurrence rate, and early application of immunosuppressants may help to prevent recurrence and alleviate symptoms.

Zooming in and out of ferroptosis in human disease / 医学前沿

Ferroptosis is defined as an iron-dependent regulated form of cell death driven by lipid peroxidation. In the past decade, it has been implicated in the pathogenesis of various diseases that together involve almost every organ of the body, including various cancers, neurodegenerative diseases, cardiovascular diseases, lung diseases, liver diseases, kidney diseases, endocrine metabolic diseases, iron-overload-related diseases, orthopedic diseases and autoimmune diseases. Understanding the underlying molecular mechanisms of ferroptosis and its regulatory pathways could provide additional strategies for the management of these disease conditions. Indeed, there are an expanding number of studies suggesting that ferroptosis serves as a bona-fide target for the prevention and treatment of these diseases in relevant pre-clinical models. In this review, we summarize the progress in the research into ferroptosis and its regulatory mechanisms in human disease, while providing evidence in support of ferroptosis as a target for the treatment of these diseases. We also discuss our perspectives on the future directions in the targeting of ferroptosis in human disease.

Research progress in treatment of Sjögren's syndrome by traditional Chinese medicine / 中国中药杂志

Sj9gren's syndrome(SS) is an autoimmune disease with glandular dysfunction caused by the massive infiltration of the exocrine glands by lymphocytes. The pathogenesis of this disease is related to the chronic inflammatory response of the exocrine glands due to excessive activation of B cells and T cells. In addition to dry mouth and eyes, SS can also cause damage to other organs and systems in the human body, seriously affecting the quality of life of patients. Traditional Chinese medicine(TCM) has definite clinical efficacy in the treatment of SS as it can alleviate symptoms and regulate immune disorders without causing adverse reactions, demonstrating high safety. This paper reviews the current status of preclinical and clinical trials about the TCM treatment of SS in the past decade. TCM mainly mitigates SS symptoms such as dry mouth, dry eyes, dry skin, and joint pain and improves the prognosis and quality of life of patients by regulating the abnormally activated B cells and T cells, inhibiting the autoimmune response, restoring the balance between pro-inflammatory and anti-inflammatory cytokines, and reducing the pathological damage caused by immune complexes to exocrine glands and joints in SS patients.

Covid-19, su relación con enfermedades autoinmunes / COVID-19, its relationship with autoimmune diseases

RESUMEN Introducción: La Covid-19, además de propagarse de persona a persona, atenta contra la estabilidad económica y política de las naciones y ha causado infecciones respiratorias letales en humanos. Esto puede ser relevante cuando se trata de la infección de un paciente inmunocomprometido, potencialmente protegido por una respuesta inmunológica más débil contra la infección. Objetivo: Describir la relación de la Covid-19 con algunas enfermedades autoinmunes. Métodos: Se emplearon los métodos de análisis-síntesis y análisis bibliográfico y documental; los motores de búsqueda fueron Hinari, Pubmed, ClinicalKey, Scielo regional, Scielo Cuba, Google Scholar. Conclusiones: Los pacientes con enfermedades autoinmunes son catalogados como pacientes de riesgo. En caso de ser confirmados con Covid-19 se les debe suspender la mayoría de sus medicamentos y mantener solamente sus tratamientos con hidroxicloroquina e inhibidores de IL-6 en caso de artritis autoinmune, y el acetato de glatiramero en la Esclerosis Múltiple. Estas personas deben seguir estrictamente las medidas orientadas por las autoridades sanitarias.

ABSTRACT Introduction: COVID-19, in addition to spreading from person to person, threatens the economic and political stability of nations and has caused lethal respiratory infections in humans. This may be relevant when dealing with infection in an immunocompromised patient, potentially protected by a weaker immune response against infection. Objective: to describe the relationship of COVID-19 with some autoimmune diseases. Methods: the analysis-synthesis method, as well as the bibliographic and documentary analysis were used; the search engines were Hinari, Pubmed, ClinicalKey, SciELO regional, SciELO Cuba and Google Scholar. Conclusions: patients with autoimmune diseases are classified as risk patients. In case of being confirmed with COVID-19, most of their medications should be suspended and only maintain their treatments with hydroxychloroquine and IL-6 inhibitors in case of autoimmune arthritis, and glatiramer acetate in multiple sclerosis. These people must strictly follow the measures directed by the health authorities.