Mycobacterium tuberculosis y virus linfotrópico humano, una co-infección fatal / Mycobacterium tuberculosis and human lymphotropic virus, a fatal co-infection

La tuberculosis es una infección de alta incidencia en Latinoamérica. Su presentación como infección activa está determinada por factores de riesgo del hospedero. Comunicamos el caso clínico de una mujer joven que presentó una forma grave de tuberculosis pulmonar. Al explorar sus factores de riesgo se confirmó un estado de inmunosupresión profundo, causado por un linfoma de células T, asociada a una co-infección por virus linfotrópico T humano tipo 1. Se destacan los aspectos microbiológicos y de pronóstico de la co-infección de Mycobacterium tuberculosis y HTLV-1

Tuberculosis is a high-incidence infection in Latin America. Its presentation as an active infection is determined by risk factors in the host. We report the case of a young woman who presented a severe form of pulmonary tuberculosis. When exploring her risk factors, a profound state of immunosuppression was found, caused by T-cell lymphoma, associated with co-infection with human lymphotropic virus. Microbiological and prognostic aspects of Mycobacterium tuberculosis and HTLV-1 co-infection are highlighted.

Meanings attributed to health-related quality of life by caregivers of adolescents with diabetes / Significados atribuídos a la calidad de vida relacionada con la salud por cuidadores de adolescentes con diabetes / Sentidos atribuídos à qualidade de vida relacionada à saúde pelas cuidadoras de adolescentes com diabetes

ABSTRACT Objective: to interpret the meanings attributed to the health-related quality of life by caregivers of adolescents with type 1 diabetes mellitus. Methods: qualitative, descriptive-exploratory study of 14 caregivers of adolescents with diabetes developed at the reference outpatient clinic for endocrine diseases in a city in the state of Paraíba. Interviews were performed between May and September 2021. Inductive thematic analysis of the empirical material, and its interpretation in light of the concepts of health-related quality of life and family functioning were performed. Results: the meanings attributed by caregivers to the health-related quality of life of adolescents converged on the feeling of being healthy, healthy eating, satisfactory family income, family involvement in care and effective access to the care network. Final Considerations: knowledge of these meanings enables health professionals to develop strategies that meet the unique demands of caregivers experiencing this diagnosis.

RESUMEN Objetivo: interpretar los significados atribuídos a la calidad de vida relacionada con la salud por cuidadores de adolescentes con diabetes mellitus tipo 1. Métodos: estudio cualitativo, descriptivo-exploratorio con 14 cuidadores de adolescentes con diabetes desarrollado en el ambulatorio de referencia para enfermedades endocrinas de una ciudad del estado de Paraíba. Las entrevistas se realizaron entre mayo y septiembre de 2021. Se realizó un análisis temático inductivo del material empírico y su interpretación a la luz de los conceptos de calidad de vida relacionada con la salud y funcionamiento familiar. Resultados: los significados atribuídos por los cuidadores a la calidad de vida relacionada con la salud de los adolescentes convergieron en el sentimiento de estar sano, alimentación saludable, ingreso familiar satisfactorio, involucramiento familiar en el cuidado y acceso efectivo a la red de cuidados. Consideraciones Finales: el conocimiento de estos significados permite a los profesionales de la salud desarrollar estrategias que atiendan las demandas únicas de los cuidadores que experimentan este diagnóstico.

RESUMO Objetivo: interpretar os sentidos atribuídos à qualidade de vida relacionada à saúde por cuidadoras de adolescentes com diabetes mellitus tipo 1. Métodos: estudo qualitativo, descritivo-exploratório desenvolvido no ambulatório de referência para doenças endócrinas em uma cidade da Paraíba com 14 cuidadoras de adolescentes com diabetes. As entrevistas ocorreram entre maio e setembro de 2021. O material empírico foi submetido à análise temática indutiva e interpretado à luz dos conceitos de qualidade de vida relacionada à saúde e do funcionamento familiar. Resultados: os sentidos atribuídos pelas cuidadoras à qualidade de vida relacionada à saúde dos adolescentes convergiram para sensação de estar com saúde, alimentação saudável, renda familiar satisfatória, envolvimento da família no cuidado e acesso efetivo à rede assistencial. Considerações Finais: o conhecimento destes sentidos possibilita que os profissionais de saúde elaborem estratégias que atendam às demandas singulares de cuidadores que vivenciam esse diagnóstico.

O conhecimento dos profissionais da Atenção Básica em Saúde sobre o Vírus T-linfotrópico Humano / The knowledge of Primary Health Care professionals about the Human T-lymphotropic virus / El conocimiento de los profesionales de la Atención Primaria de Salud sobre el virus linfotrópico T humano

Objetivo: investigar o conhecimento de profissionais de saúde presentes em unidades básicas de saúde (UBS's) sobre o HTLV e as condutas tomadas em caso de infecção. Método:pesquisa quantitativa transversal de abordagem exploratória, sendo realizada por meio de entrevista, com preenchimento de formulário via Google Forms. Realizada em julho de 2023. Resultados:estudo composto por 33 profissionais de saúde, dentre os quais 39% afirmaram desconhecer o HTLV. Essa informação é preocupante, considerando que uma unidade de saúde representa a principal porta de entrada paraos indivíduos em busca de atendimento à saúde. A maioria expressiva, representando 70%, demonstrou conhecimento sobre os meios de prevenção da doença. Porém, a vacinação não foi identificada pela maioria como um método de prevenção, destacando uma percepção menos difundida sobre o papel da vacina nesse contexto. Conclusão:é crucial divulgar pesquisas sobre o tema, criando oportunidades estratégicas para aprimorar tanto a compreensão clínica quanto a empatia no atendimento aos portadores do HTLV, contribuindo assim para a melhoria do diagnóstico, tratamento e qualidade assistencia

Objective:To investigate the knowledge of health professionals present in primary health care units (BHUs) about HTLV and the procedures taken in case of infection. Method:cross-sectional quantitative research with an exploratory approach, carried out through interviews, filling out a form via Google Forms. Carried out in July 2023. Results:study composed of 33 health professionals, of which 39% said they were unaware of HTLV. This information is worrying, considering that a health unit represents the main gateway for individuals seeking health care. The significant majority, representing 70%, demonstrated knowledge about the means of preventing the disease. However, vaccination was not identified by the majority as a prevention method, highlighting a less widespread perception about the role of the vaccine in this context. Conclusion:it is crucial to disseminate research on the topic, creating strategic opportunities to improve both clinical understanding and empathy in the care of HTLV carriers, thus contributing to the improvement of diagnosis, treatment and quality of care.

Objective:To investigate the knowledge of health professionals present in primary health care units (BHUs) about HTLV and the procedures taken in case of infection. Method:cross-sectional quantitative research with an exploratory approach, carried out through interviews, filling out a form via Google Forms. Carried out in July 2023. Results:study composed of 33 health professionals, of which 39% said they were unaware of HTLV. This information is worrying, considering that a health unit represents the main gateway for individuals seeking health care. The significant majority, representing 70%, demonstrated knowledge about the means of preventing the disease. However, vaccination was not identified by the majority as a prevention method, highlighting a less widespread perception about the role of the vaccine in this context. Conclusion:it is crucial to disseminate research on the topic, creating strategic opportunities to improve both clinical understanding and empathy in the care of HTLV carriers, thus contributing to the improvement of diagnosis, treatment and quality of care.

Use of probiotics and similar in pediatric patients with Type 1 Diabetes Mellitus: a systematic review / Uso de probióticos e similares em pacientes pediátricos com Diabetes Mellitus tipo 1: uma revisão sistemática

ABSTRACT Objective: To perform a systematic review of randomized controlled trials, evaluating the effect of probiotics, prebiotics or symbiotics supplementation on glycemic and inflammatory control in children with Type 1 Diabetes Mellitus (T1DM). Data source: The Medical Literature Analysis and Retrieval System Online (MEDLINE/PubMed), Clinical Trials, Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS) and Scientific Electronic Library Online (SciELO) databases were searched. Randomized clinical trials of pediatric patients with DM1 using probiotics, prebiotics or symbiotics were included, regardless of year or language of publication. Studies that did not evaluate glycated hemoglobin (HbA1c) were excluded. Metabolic results (HbA1c, total insulin dose and C-peptide) and inflammatory control [interleukin-10 (IL-10), tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ)] during probiotic supplementation or similar, related to modification of the intestinal microbiota, were analyzed. PROSPERO ID: CRD42022384485. Data synthesis: Five studies were selected for a systematic review. Regarding metabolic markers, only one of the articles that analyzed HbA1c showed a significant decrease (p=0.03) in the intervention group. One study identified a reduction in the total dose of insulin and increased C-peptide levels. Regarding the evaluation of inflammatory parameters (IL-10, TNF-α, INF-γ), there were no statistical relevant modifications. Conclusions: Current data from the literature were not conclusive in identifying an improvement in glycemic control and did not observe changes in inflammatory parameters with the use of probiotics, prebiotics or symbiotics in pediatric patients with T1DM.

RESUMO Objetivo: Realizar uma revisão sistemática de ensaios clínicos randomizados controlados avaliando o efeito da suplementação de probióticos, prebióticos ou simbióticos no controle glicêmico e inflamatório em crianças com diabetes mellitus tipo 1 (DM1). Fontes de dados: As bases Medical Literature Analysis and Retrieval System Online (MEDLINE/PubMed), Clinical Trials, Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS) e Scientific Electronic Library Online (SciELO) foram pesquisadas. Foram incluídos ensaios clínicos randomizados de pacientes pediátricos com DM1 em uso de probióticos, prebióticos ou simbióticos, independentemente de ano ou idioma de publicação. Foram excluídos os trabalhos que não avaliaram hemoglobina glicada (HbA1c). Os resultados metabólicos (HbA1c, dose de insulina total e peptídeo C) e o controle inflamatório [interleucina-10 — IL-10), fator de necrose tumoral-alfa (TNF-α) e interferon-gama (IFN-γ)] durante a suplementação de probióticos ou similares, relacionados à modificação da microbiota intestinal, foram analisados. ID PROSPERO: CRD42022384485. Síntese dos dados: Cinco estudos foram selecionados para revisão sistemática. Com relação aos marcadores metabólicos, apenas um dos artigos que analisaram a HbA1c apresentou diminuição significativa (p=0,03) no grupo intervenção. Um estudo identificou redução da dose total de insulina e aumento dos níveis de peptídeo C. Quanto à avaliação dos parâmetros inflamatórios (IL-10, TNF-α, INF-γ), não houve modificações de relevância estatística. Conclusões: Os dados atuais da literatura não foram conclusivos em identificar melhora no controle glicêmico e não observaram mudanças nos parâmetros inflamatórios com o uso de probióticos, prebióticos ou simbióticos em pacientes pediátricos com DM1.

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings / Uma nova mutação pontual levando à sialidose tipo 1 - síndrome mioclônica e seus achados na tomografia de coerência óptica

ABSTRACT This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.

RESUMO Neste artigo, objetivamos apresentar os achados da tomografia de coerência óptica em uma nova mutação detectada no gene NEU1 em um caso de síndrome macular vermelho-cereja bilateral associada à sialidose tipo 1. Um paciente de 19 anos com um achado de mancha macular vermelho-cereja foi submetido a análises metabólicas e genéticas, apoiadas por imagens de tomografia de coerência óptica de domínio espectral (SD-OCT). Ao exame de fundo de olho, foi observada uma mancha macular vermelho-cereja bilateral. Nas imagens de SD-OCT, observou-se hiper-refletividade nas camadas internas da retina e na camada fotorreceptora na região foveal. Foi realizada uma análise genética e uma nova mutação foi detectada no gene NEU1, resultando em sialidose tipo 1. Nos casos em que é detectada uma mancha vermelho-cereja na mácula, o diagnóstico diferencial de sialidose deve ser feito e mutações do gene NEU1 devem ser rastreadas. A SD-OCT por si só não é suficiente para o diagnóstico diferencial, porque achados de aparência semelhante podem se manifestar em casos de doenças metabólicas da infância.

Autogestão do diabetes na adolescência: experiência de jovens adultos e pais portugueses / Autogestión de la diabetes en la adolescencia: experiencias de jóvenes adultos y padres portugueses / Self-management of diabetes in adolescence: experience of Portuguese young adults and their parents

Resumo Objetivo Identificar os fatores que facilitam ou dificultam a construção da autonomia na adolescência através da experiência de jovens adultos com diabetes tipo 1 e seus pais. Métodos Estudo de natureza qualitativa, descritiva e exploratória. Foram realizadas duas entrevistas de grupo focal, uma com nove jovens adultos peritos na gestão de sua doença e outra com sete pais. Para análise dos dados, foram usados análise de conteúdo temática e categorial, com particularidades de entrevista de grupo focal, e recurso ao software NVIVO 12. Resultados Emergiram duas grandes categorias e dez subcategorias relativas aos fatores que facilitaram (sistemas de suporte, conhecimentos, alimentação, bomba de insulina, responsabilização precoce pela gestão da terapêutica, características dos jovens), e dificultaram (regime terapêutico, estigma, atitude dos profissionais de saúde, características dos jovens, conhecimento) o desenvolvimento da autonomia na gestão da doença. Conclusão A autonomia na gestão do diabetes envolve vários desafios aos adolescentes, o que requer adequação de atitudes e intervenções de profissionais. Além da gestão tradicional da condição de saúde, é essencial abordar temas relacionados com a socialização dos adolescentes, procurando estratégias inovadoras que promovam o coping e a qualidade de vida. Os resultados deste estudo possibilitam refletir sobre a relação terapêutica com os adolescentes, salientando a importância de individualizar cuidados e respostas inovadoras às suas necessidades específicas.

Resumen Objetivo Identificar los factores que facilitan o dificultan la construcción de la autonomía en la adolescencia a través de la experiencia de jóvenes adultos con diabetes tipo 1 y sus padres. Métodos: Estudio de naturaleza cualitativa, descriptiva y exploratoria. Se realizaron dos entrevistas de grupo focal, una con nueve jóvenes adultos expertos en la gestión de su enfermedad y otra con siete padres. Para el análisis de datos se utilizó el análisis de contenido temático y categorial, con particularidades de entrevista de grupo focal y recurso del software NVIVO 12. Resultados Surgieron dos grandes categorías y diez subcategorías relativas a los factores que facilitaron el desarrollo de la autonomía en la gestión de la enfermedad (sistemas de apoyo, conocimientos, alimentación, bomba de insulina, responsabilización temprana de la gestión de la terapéutica, características de los jóvenes) y los que la dificultaron (régimen terapéutico, estigma, actitudes de los profesionales de la salud, características de los jóvenes, conocimientos). Conclusión La autonomía en la gestión de la diabetes incluye muchos desafíos para los adolescentes, lo que requiere adaptación de actitudes e intervenciones de profesionales. Además de la gestión tradicional del estado de salud, es esencial abordar temas relacionados con la socialización de los adolescentes y buscar estrategias innovadoras que promuevan el coping y la calidad de vida. Los resultados de este estudio permiten reflexionar sobre la relación terapéutica con los adolescentes y destacar la importancia de individualizar los cuidados y las respuestas innovadoras para sus necesidades específicas.

Abstract Objective To identify the factors that facilitate or hinder the construction of autonomy in adolescence through the experience of young adults with type-1 diabetes and their parents. Methods This was a qualitative, descriptive, and exploratory study. Two focus group interviews were conducted: one with nine young adults who were experts in managing their illness and the other with seven parents. Thematic and categorical content analysis was used for data analysis, with particularities of a focus group interview and the use of the NVIVO 12 software. Results Two major categories and ten subcategories related to factors that facilitated (support systems, knowledge, diet, insulin pump, early responsibility for managing therapy, and characteristics of young people) and hindered (therapeutic regimen, stigma, attitude of health professionals, characteristics of young people, and knowledge) the development of autonomy in disease management emerged. Conclusion Autonomy in the management of diabetes involves several challenges for adolescents, which requires adaptation of attitudes and interventions by professionals. In addition to the traditional management of the health condition, addressing issues related to the socialization of adolescents is essential, looking for innovative strategies that promote coping and quality of life. The results of this study make it possible to reflect on the therapeutic relationship with adolescents, emphasizing the importance of individualizing care and innovative responses to their specific needs.

Percepción de apoyo social en padres de niños con diabetes mellitus tipo 1

Fundamento: el apoyo de familiares y del equipo de salud a los padres cuidadores de sus hijos diabéticos es fundamental para el afrontamiento a los cambios que provoca esta enfermedad en la dinámica familiar. Objetivo: describir la percepción de los padres cuidadores sobre el apoyo familiar y de los Sistemas de Salud en el comienzo de sus hijos con diabetes mellitus tipo 1. Métodos: estudio cualitativo descriptivo realizado mediante entrevista semiestructurada a cuatro padres cuidadores de niños con diagnóstico de diabetes tipo 1. El consentimiento informado fue realizado vía Google Forms y la entrevista fue vía plataforma ZOOM. Las entrevistas tuvieron una duración de 30 minutos. El análisis de las entrevistas se realizó utilizando el programa ATLAS.ti versión 22. Resultados: el comienzo de la enfermedad de los niños fue recibido por los padres con mucha confusión y falta de conocimiento. En cuanto a las redes de apoyo, los padres declararon la soledad como vivencia en el cuidado de los niños y, en relación a los equipos de salud, relataron que está enfocada en los cuidados básicos que tenían que cumplir, como la alimentación y el control glucémico, con ausencia de preocupación por el apoyo emocional. Conclusiones: las necesidades de apoyo desde los equipos de salud, a los padres cuidadores, más allá del control de la enfermedad, es una necesidad explícita desde la evidencia, que aún no ha sido considerada por los Sistemas de Salud. El apoyo debe trascender la familia, con una actuación importante de los profesionales de la salud y todo el contexto en que están insertos los niños, para contribuir a un manejo adecuado de la enfermedad.

Foundation: the support of family members and the health team for parents caring for their diabetic children is essential for facing with the changes that this disease causes in family dynamics. Objective: to describe the perception of parent caregivers about family support and Health Systems at the beginning of their children with type 1 diabetes mellitus. Methods: qualitative descriptive study carried out through semi-structured interviews with four parent caregivers of children with a diagnosis of type 1 diabetes. Informed consent was carried out via Google forms and the interview was via the ZOOM platform. The interviews lasted 30 minutes. The analysis of the interviews was carried out using the ATLAS.ti version 22 program. Results: the beginning of the children's illness was received by parents with much confusion and lack of knowledge. Regarding the support networks, the parents declared loneliness in the experience of caring for the children and, in relation to the health teams, they reported that it is focused on the basic care that they had to fulfill, such as food and hygiene, glycemic control, with absence of concern for emotional support. Conclusions: the support needs from health teams to parent caregivers, beyond disease control, is an explicit need from the evidence, which has not yet been considered by Health Systems. Support must go beyond the family, with important action by health professionals and the entire context in which children are inserted, to contribute to adequate management of the disease.

Neoplasia endocrina múltiple tipo 1 en paciente con diagnóstico de nesidioblastosis. Presentación de un caso

Las neoplasias endocrinas múltiples engloban una serie de síndromes caracterizados por su origen genético y la afectación de una o más glándulas. Se describe el caso de un paciente masculino, de 23 años, con antecedentes de salud de nesidioblastosis diagnosticado a los 16 años de edad, quien acudió al Hospital General Docente Ambato por presentar convulsiones tónico clónicas, e hipoglucemia severa con posterior estatus epiléptico. Los estudios de laboratorio mostraron hiperparatiroidismo primario, y los de imagen identificaron lesiones sugerentes de adenoma paratiroideo e insulinoma de cabeza de páncreas. Después de analizar el caso, se identificaron dos criterios para plantear una neoplasia endocrina múltiple tipo 1: presencia de insulinoma e hiperparatiroidismo primario. Además de tratamiento con bifosfonato, se planificó interconsulta con el servicio de Genética, para estudio del paciente y familiares; y con Cirugía General, para programación de resolución quirúrgica. Debido a la poca frecuencia de esta enfermedad, resulta de interés describir el caso, con el objetivo de exponer las principales manifestaciones clínicas y conducta a seguir. Constituye una prioridad el diagnóstico de su causa en cada paciente.

Multiple endocrine neoplasias encompass a series of syndromes characterized by their genetic origin and the involvement of one or more glands. A 23-years-old male patient with a health history of nesidioblastosis diagnosed at 16 years of age, who attended the Ambato General Teaching Hospital with tonic-clonic seizures and severe hypoglycemia with subsequent epileptic status, is described. Laboratory studies showed primary hyperparathyroidism, and imaging identified lesions suggestive of parathyroid adenoma and insulinoma of the head of the pancreas. After analyzing the case, two criteria were identified to suggest multiple endocrine neoplasia type 1: presence of insulinoma and primary hyperparathyroidism. In addition to treatment with bisphosphonate, consultation with the Genetics service was planned for study of the patient and family members; and with General Surgery, for scheduling surgical resolution. Due to the infrequency of this disease, it is of interest to describe the case, with the aim of exposing the main clinical manifestations and conduct to follow. Diagnosing its cause in each patient is a priority.

Síndrome de dificultad respiratoria aguda por Mycobacterium tuberculosis de rápido crecimiento en una mujer con virus linfotrópico T humano tipo I-II / Acute respiratory distress syndrome due to rapidly growing Mycobacterium tuberculosis in a woman with human T-lymphotropic virus type I-II

La tuberculosis es una infección de distribución mundial con una alta morbimortalidad en países subdesarrollados. Presentamos el caso de una mujer de 55 años con cuadro de dos meses de adenomegalias cervicales, pérdida de peso y fiebre con posterior disnea de esfuerzo progresiva. Ingresó por urgencias en falla ventilatoria y hallazgos radiológicos compatibles con síndrome de dificultad respiratoria aguda (SDRA) requiriendo ventilación mecánica invasiva. Se demostró infección por M. tuberculosis por PCR en tiempo real GeneXpert MTB/RIF Ultra y en cultivo de medio líquido de esputo, con crecimiento en tiempo menor a tres días. La biopsia de las adenomegalias confirmó linfoma de células T periférico asociado a infección por virus linfotrópico T humano tipo I-II, presentando una evolución tórpida a pesar del esquema quimioterapéutico.

Tuberculosis is a globally distributed infection with high morbidity and mortality in underdeveloped countries. We present the case of a 55-year-old woman with a 2-month history of cervical lymph nodes, weight loss, and fever with subsequent progressive exertional dyspnea. She was admitted to the emergency department with ventilatory failure and radiological findings compatible with acute respiratory distress syndrome (ARDS) requiring invasive mechanical ventilation. M. tuberculosis infection was proved by a real-time PCR GeneXpert MTB/RIF Ultra and in culture of sputum liquid medium, with growth in less than 3 days. The biopsy of the lymph nodes revealed peripheral T-cell lymphoma associated with infection by human T-lymphotropic virus type I-II, presenting a torpid evolution despite the chemotherapy regimen.

Perfil das pessoas com diabetes que utilizaram a telefarmácia na pandemia de covid-19: resultados da DIABETES / Profile of people with diabetes who used telepharmacy during the covid-19 pandemic: results from DIABETES / Perfil de personas con diabetes que usaron telefarmacia durante la pandemia de covid-19: resultados de DIABETES

O objetivo foi analisar o perfil das pessoas com diabetes que utilizaram a telefarmácia na pandemia de covid-19. Trata-se de um estudo transversal com dados oriundos da websurvey DIABETESvid que ocorreu nos meses de setembro e outubro de 2020. Verificou-se que 45 participantes recorreram à telefarmácia, sendo que 55,6% eram do sexo masculino, 42,2% tinham idade compreendida entre 18 e 34 anos e 46,7% estudaram 12 ou mais anos. Além disso, 48,9% autorreferiram diabetes mellitus tipo 1. A maioria usava insulina (55,6%) e obteve os medicamentos para o diabetes em farmácias do sistema público de saúde (60%). Ademais, as pessoas que tiveram o diagnóstico de covid-19 buscaram mais pela telefarmácia (RP=2,20; IC95% 1,23­3,94). Sabe-se que os medicamentos são essenciais para o tratamento do diabetes. Logo, no período estudado em que se preconizava o distanciamento físico, os participantes apropriaram-se da telefarmácia a fim de obter a integralidade do cuidado

The objective was to analyze the profile of people with diabetes who used telepharmacy during the covid-19 pandemic. This is a cross-sectional study with data from the DIABETESvid websurvey that took place in September and October 2020. It was found that 45 participants used telepharmacy, 55.6% of whom were male, 42.2% were between 18 and 34 years-old and 46.7% studied 12 or more years. In addition, 48.9% self-reported type 1 diabetes mellitus. Most used insulin (55.6%) and obtained their diabetes medication from pharmacies in the public health system (60%). Also, people diagnosed with covid-19 used telephar-macy more often (PR=2.20; 95%CI 1.23­3.94). It is known that drugs are essential for the treatment of diabetes. Therefore, in the period studied in which physical distancing was advocated, the participants used telepharmacy to obtain comprehensive care

El objetivo fue analizar el perfil de las personas con diabetes que utilizaron la telefarmacia durante la pandemia del covid-19. Estudio transversal con datos de la encuesta por internet DIABETESvid realizada en septiembre y octubre de 2020. Se encontró que 45 participantes recurrieron a la telefarmacia, de los cuales el 55,6% eran hombres, el 42,2% tenían entre 18 y 34 años y el 46,7% estudiaban 12 o más años. Además, el 48,9% se autorrefirió diabetes mellitus tipo 1. La mayoría utilizaba insulina (55,6%) y recibía su medicación antidiabética en farmacias del sistema público (60%). Además, las personas diagnosticadas con covid-19 buscaron telefarmacia con más frecuencia (RP = 2,20; IC 95% 1,23­3,94). Los medicamentos son esenciales para el tratamiento de la diabetes. Por lo tanto, en el período estudiado en el que se propugnaba el distanciamiento físico, los participantes se apropiaron de la telefarmacia para la atención integral

COVID-19 y leucemia/linfoma T del adulto, sinergia mortal / COVID-19 and adult T cell leukemia-lymphoma: a deadly synergy

La leucemia/linfoma T del adulto es una neoplasia maligna de mal pronóstico frecuente en población anciana. Se presenta el caso de una mujer de 44 años de edad, de Ayacucho, diagnosticada con el subtipo linfomatoso de esta enfermedad e infección por virus linfotrópico T humano-I; mostró síndrome oclusivo de vena cava superior con tratamiento de quimioterapia sistémica bajo régimen de dosis ajustada con rituximab más etoposido, prednisona, vincristina, ciclofosfamida y doxorubicina. Posteriormente ingresó en emergencia por presentar dificultad respiratoria, tos seca, disminución de la conciencia, hipercalcemia, tomografía de tórax con patrón heterogéneo consolidativo en ambos pulmones y PCR en hisopado nasofaríngeo positivo a COVID-19. Recibió tratamiento de hidroxicloroquina, azitromicina, corticoides e ivermectina con pobre respuesta, rápido deterioro y fallece días después. La leucemia/linfoma T del adulto a edad temprana es rara y está relacionada con infecciones crónicas como strongyloides o tuberculosis, susceptible ante el padecimiento de COVID-19.

Adult T cell leukemia-lymphoma is a common malignancy with a poor prognosis in the elderly population. We present a 44-year-old woman from Ayacucho who was diagnosed with a lymphoma subtype of this disease and a human T-lymphotropic virus-I infection; she showed superior vena cava occlusive syndrome with systemic chemotherapy treatment under an adjusted-dose regimen with rituximab plus etoposide, prednisone, vincristine, cyclophosphamide and doxorubicin. Subsequently, she was admitted to the emergency service due to respiratory distress, dry cough, decreased consciousness, hipercalcemia, chest tomography with a heterogeneous consolidation pattern in both lungs and positive RT-PCR nasopharyngeal swab test for COVID-19. She received treatment with hydroxychloroquine, azithromycin, corticosteroids and ivermectin with a poor response, rapid deterioration and died later. Adult T cell leukemia-lymphoma at an early age is rare and is related to chronic infections such as strongyloides or tuberculosis, susceptible to COVID-19.

Diabetes mellitus tipo 1 de presentación súbita inducida por inhibidores del punto de control inmunitario en el tratamiento de cáncer avanzado. Serie de casos / Sudden onset type 1 diabetes mellitus induced by immune checkpoint inhibitors in the treatment of advanced cancer. Cases report

Tres pacientes con cáncer avanzado en tratamiento con inhibidores del punto de control inmunitario (inmune checkpoint inhibitors, ICIs), sin antecedentes de diabetes mellitus (DM), ingresaron al Servicio de Urgencias con poliuria, polidipsia y pérdida de peso, y diagnóstico de cetoacidosis diabética, sin evidencia clínica de infección. Fueron tratados con líquidos e infusión de insulina pasando luego a un régimen de insulina bolo basal que continuó después del alta. Las pruebas de detección de autoanticuerpos para DM resultaron negativas, y se les diagnosticó DM inducida por ICIs, pembrolizumab en dos de ellos y nivolumab en el otro. El propósito de esta serie de casos es demostrar el desarrollo de la DM1 en forma aguda en pacientes tratados con inhibidores de PD-1. Sobre la base de estos casos y la literatura revisada, se buscaron determinar las características clínicas, y sugerir estrategias para la identificación, control, tratamiento precoz y seguimiento de los pacientes tratados con ICIs a fin de minimizar el impacto de la disfunción autoinmune.

Three patients with advanced cancer, treated with inmune checkpoint inhibitors (ICIs), with no history of diabetes mellitus (DM), were admitted to the Emergency Department with polyuria, polydipsia, and weight loss and a diagnosis of diabetic ketoacidosis without clinical evidence of infection. They were treated with fluids and insulin infusion transitioning to a basal-bolus insulin regimen, which continued after discharge. Autoantibody detection tests for DM were negative and they were diagnosed with DM induced by ICIs, pembrolizumab in two of them, and nivolumab in another. The purpose of this case report is to show the development of DM1 in an acute form in patients treated with PD-1 inhibitors. Based on these cases and the reviewed literature, we seek to identify clinical characteristics and suggest strategies for the proper identification, control, treatment, and follow-up of patients treated with ICIs to minimize the impact of autoimmune dysfunction.

Sentimentos e desafios vivenciados pelo cuidador familiar da criança com diabetes mellitus tipo 1 / Feelings and challenges experienced by family caregivers of children with type 1 diabetes mellitus / Sentimientos y desafíos vividos por cuidadores familiares de niños con diabetes mellitus tipo 1

Objetivo: descrever as vivências e desafios do cuidador/familiar da criança com diabetes mellitus tipo 1. Método: estudo descritivo de abordagem qualitativa, junto a cuidadores de crianças com faixa etária de três a 12 anos incompletos, residentes em um município de Santa Catarina, Brasil. Os dados foram coletados entre julho e agosto de 2021, por meio de entrevistas em plataformas virtuais, e analisados conforme análise temática. Resultados: há vivências que transitam desde o medo e insegurança na descoberta do diagnóstico, dificuldades para aprender os cuidados com a criança, as mudanças de comportamentos de toda família, até preocupações com a criança no ambiente escolar, o que sobressai a importância das redes de apoio neste contexto, embora pouco mencionadas ou conhecidas pelos participantes. Considerações finais: as vivências e desafios do cuidador da criança com diabetes extrapola a esfera familiar, e indica que esse perfil de família necessita de acompanhamento mais próximo pelas equipes de saúde, na medida que isso garanta maior compreensão sobre a doença, cuidados necessários e referência de acolhimento.

Objective: to describe the experiences and challenges of the caregivers/family members of children with type 1 diabetes mellitus. Method: descriptive study with a qualitative approach, with caregivers of children aged between three and 12 years old, living in a municipality in Santa Catarina, Brazil. Data were collected between July and August 2021, through interviews on virtual platforms, and analyzed according to thematic analysis. Results: there are experiences that range from fear and insecurity when discovering the diagnosis, difficulties in learning how to care for the child, changes in the behavior of the entire family, to concerns about the child in the school environment, which highlights the importance of support networks in this context, although little mentioned or known by participants. Final considerations: the experiences and challenges of the caregiver of a child with diabetes go beyond the family sphere, and indicate that this family profile requires closer monitoring by health teams, as this guarantees greater understanding of the disease, necessary care and referral support.

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)

Aplicativos para autogestão do diabetes tipo 1 em usuários de sistema de infusão contínua de insulina / Applications for self-management of type 1 diabetes in users of continuous insulin infusion system / Aplicaciones para el autocontrol de la diabetes tipo 1 en personas usuarias del sistema de infusión continua de insulina

Objetivo: Identificar e descrever as características dos aplicativos móveis para autogestão do diabetes mellitus tipo 1 em usuários de sistema de infusão contínua de insulina. Método: Revisão integrativa, com buscas efetuadas no mês de junho de 2020, a partir dos artigos publicados PUBMED, CINAHL, Cochrane Library, Web of Science e Scopus. Considerou-se como critério de elegibilidade estudos que abordavam sobre aplicativos móveis para autogestão do DM1 em usuários de Sistema de Infusão Contínua de Insulina, sem restrição temporal. Foram excluídos apenas estudos indisponíveis. Resultados: Após a análise de duas revisoras independentes foram incluídos na análise final 14 estudos e identificados 11 aplicativos móveis para smartphones que podem auxiliar no autogerenciamento do DM1, nomeados como iDECIDE, Sugar Sleuth, VoiceDiab, Blip, GoCARB, Nightscout, Gerenciamento Inteligente de Diabetes, Calculadora móvel de troca de Alimentos, Insulin Pump, DiaMob e Diário Interativo sobre Diabetes. Conclusão: Os aplicativos móveis foram desenvolvidos para promover mudanças de comportamento e ajustes no tratamento de maneira positiva, tanto em resultados clínicos quanto na qualidade de vida e autogestão do diabetes em pessoas com DM1. Aplicativos móveis para smartphones podem auxiliar no autogerenciamento do DM1, por possibilitar auxílio na decisão de aplicação de insulina, controle glicêmico, análise na necessidade de insulina nas refeições, gestão alimentar, cálculo dos componentes alimentares nas refeições, monitoramento contínuo da glicose e cálculo automático de bolus de carboidratos e insulina.

Objetivo: Identificar y comprender las características de las aplicaciones móviles para el autocontrol de la diabetes mellitus tipo 1 (DM1) en personas usuarias de sistemas de infusión continua de insulina. Método: Revisión integradora, con búsquedas realizadas en el mes de junio de 2020, de artículos publicados en las bases de datos PUBMED, CINAHL, Cochrane Library, Web of Science y Scopus. Los criterios de elegibilidad considerados para los estudios fueron que abordaran aplicaciones móviles para el autocuidado de DM1 en personas usuarias del sistema de infusión continua de insulina, sin restricción de tiempo. Solo se excluyeron los estudios no disponibles. Resultados: Después del análisis de dos revisores independientes, se incluyeron 14 estudios en el análisis final y se identificaron 11 aplicaciones móviles para teléfonos inteligentes que pueden ayudar en la autogestión de DM1, denominadas iDECIDE, Sugar Sleuth, VoiceDiab, Blip, GoCARB, Nightscout, Intelligent Manejo de la diabetes, Calculadora móvil de intercambio de alimentos, Bomba de insulina, DiaMob y Diario interactivo sobre diabetes. Conclusión: En los estudios analizados, se desarrollaron aplicaciones móviles para promover cambios de comportamiento y ajustes de tratamiento de forma positiva, tanto en los resultados clínicos como en la calidad de vida y el autocontrol de la diabetes en personas con DM1. Las aplicaciones móviles para teléfonos inteligentes pueden ayudar en el autocontrol de DM1, al permitir la asistencia en la decisión de aplicar insulina, control glucémico, análisis de la necesidad de insulina en las comidas, manejo de alimentos, cálculo de los componentes de los alimentos en las comidas, monitoreo continuo de glucosa y cálculo automático del bolo de carbohidratos e insulina.

Objetive: To identify and understand the characteristics of mobile applications for self-management of type 1 mellitus diabetes in users of continuous insulin infusion systems. Method: integrative review with searches carried out in the month of June 2020, based on the articles published in PUBMED, CINAHL, Cochrane Library, Web of Science and Scopus. The eligibility criteria were based to consider those studies that addressed mobile applications for self-management of DM1 in users of Continuous Infusion System of Insulin without time restriction. Only unavailable studies were excluded. Results: After the analysis of two independent reviewers, 14 studies were included in the final analysis, and 11 mobile applications for smartphones that can assist in self-management of DM1 were identified; these were named as iDECIDE, Sugar Sleuth, VoiceDiab, Blip, GoCARB, Nightscout, Intelligent Diabetes Management, Calculator Food exchange mobile, Insulin Pump, DiaMob and Interactive Diary on Diabetes. Conclusion: Mobile applications were developed to promote behavioral changes and treatment adjustments in a positive way, both in clinical results and in the quality of life and self-management of diabetes in people with DM1. Mobile apps for smartphones can assist in self-management of DM1 by enabling assistance in the decision to apply insulin, glycemic control, analysis of the need for insulin in meals, food management, calculation of food components in meals, continuous glucose monitoring and automatic calculation of bolus of carbohydrates and insulin.

Caracterización clínica y sociodemográfica de Diabetes Mellitus en pacientes pediátricos del Hospital Regional de la Orinoquía, Yopal, Colombia

Introducción: La Diabetes Mellitus (DM) es una alteración metabólica crónica, creciente en la población pediátrica que conduce a múltiples complicaciones micro y macrovasculares. Es un problema de salud pública por los altos costos que conlleva el diagnóstico y tratamiento. Según la Federación Internacional de Diabetes (IFD), la incidencia anual en el mundo está aumentando, debido a que la prevalencia de edad entre 0-14 años es de 98.2% y de 0-19 años es de 128.9% entre el 2019 y 2021 con una incidencia de 108.3% y 149.5%, respectivamente, por 100.000 habitantes en 215 países. Objetivo: Describir las características clínicas de un grupo de niños y adolescentes que ingresaron al servicio de urgencias del Hospital Regional de la Orinoquía (HORO) de Yopal-Casanare, en el período 2019 -2020 con diagnóstico de novo o previo de diabetes mellitus. Metodología: Se realizó un estudio observacional, descriptivo y retrospectivo, tipo serie de casos, donde se incluyeron pacientes menores de 18 años con diagnóstico de novo o previo de diabetes mellitus en el período de 2019 -2020 en el Hospital Regional de la Orinoquía. Se analizaron un total de 15 pacientes. Resultados: Se muestra la clasificación de los pacientes según grupo de edades y sexo, se encuentra predominio del género masculino con un 53,3% de los 15 pacientes que cumplían con los criterios diagnósticos, mientras que la población femenina fue de 46,6%. La edad promedio de los pacientes pediátricos fue de 13 ± 13.2 Conclusiones: En el estudio realizado en el Hospital regional de la Orinoquía, la edad entre 11 - 13 años es la más frecuente para DM, con un predominio significativo del sexo masculino, provenientes de áreas urbanas. Se halló que el bajo peso es un dato alarmante, además de valores de glicemia alterados que se relacionan con las complicaciones presentadas al momento del ingreso del paciente, lo cual representa un problema de salud pública entre niños y adultos jóvenes debido a la heterogeneidad, del factor genético y ambiental.

Introduction: Diabetes mellitus (DM) is a chronic metabolic disorder that is increasing in the pediatric population and leads to multiple microvascular and macrovascular complications. It is a public health problem due to the high costs of diagnosis and treatment. According to the International Diabetes Federation (IFD) the annual incidence in the world is increasing, due to an age prevalence between 0-14 years of 98.2% and 0-19 years of 128.9% between 2019 and 2021 with an incidence of 108.3% and 149.5% respectively per 100,000 inhabitants in 215 countries. Objective: To describe the clinical characteristics of a group of children and adolescents admitted to the emergency department of the Hospital Regional de la Orinoquía (HORO) in Yopal-Casanare in the period 2019 to 2020 with de novo or previous diagnosis of diabetes mellitus. Methodology: An observational, descriptive, and retrospective study, case series type, where patients under 18 years of age with de novo or previous diagnosis of diabetes mellitus were included in the period from 2019 to 2020 in the Orinoquía Regional Hospital. Results: The classification of the patients according to age group and sex shows a predominance of the male gender with 53.3% of the 15 patients who met the diagnostic criteria, while the female population was 46.6%. The average age of the pediatric patients was 13 ± 13.2 Conclusions: The study carried out at the Hospital Regional de la Orinoquía showed that the most frequent age group was 11 to 13 years old, with a significant predominance of males, coming from urban areas. It was found that low weight is an alarming fact plus altered glycemia values are related to the complications presented at the time of the patient's admission, which represents a public health problem among children and young adults due to the heterogeneity of the genetic and environmental factors.

Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study / Polimorfismos genéticos no gene COL1A2 eo risco de tendinopatia: Estudo de caso-controle

Abstract Objective To evaluate the influence of polymorphisms on genes encoding type I collagen and the genetic susceptibility of tendinopathy. Methodology Case-control study involving 242 Brazilian athletes from different sports modalities (55 cases of tendinopathy and 187 controls). The polymorphisms COLIAI (rs1107946) and COLIA2 (rs412777, rs42524, and rs2621215) were analyzed by theTaqMansystem. Odds ratio(OR)withtheir 95% confidence intervals (CIs) were calculated using a nonconditional logistic regression model. Results The mean age was 24.0 ± 5.6 years old and 65.3% were men. Of the 55 cases of tendinopathy, 25.4% had > 1 affected tendon, the most frequent being patellar (56.3%), rotator cuff (30.9%) and elbow or hand flexors (30.9%). Age and amount of time of sports practice were associated with a higher chance of presenting tendinopathy (5 and 8 times, respectively). The frequency of variant alleles in control and case patients, respectively, was: COLIAI rs1107946 24.0 and 29.6%; COLIA2 rs412777 36.1 and 27.8%; rs42524 17.5 and 25.9%; and rs2621215 21.3 and 27.8%. After adjusting for confounding factors (age and years of sports practice), COLIA2 rs42524and rs2621215 polymorphisms were associated with increased risk of tendinopathy (OR = 5.5; 95% CI = 1.2-24.6 and OR = 3.9; IC95% = 1.1-13.5, respectively). The haplotype COLIA2 CGT was associated with low risk for disease development (OR = 0.5; 95%CI = 0.3-0.9). Conclusion Age (≥ 25 years old), time of sports practice (≥ 6years) and polymorphisms in the COLIA2 gene increased the risk of developing tendinopathy.

Resumo Objetivo Avaliar a influência de polimorfismos nos genes que codificam o colágeno tipo I e a suscetibilidade genética da tendinopatia. Metodologia Estudo caso-controle envolvendo 242 atletas brasileiros de diferentes modalidades esportivas (55 casos de tendinopatia e 187 controles). Os polimorfismos COL1A1 (rs1107946) e COL1A2 (rs412777, rs42524 e rs2621215) foram analisados pelo sistema TaqMan. As razões de chance (OR) com seus intervalos de confiança (IC) de 95% foram calculadas usando um modelo de regressão logística não-condicional. Resultados A média de idade foi de 24,0 ± 5,6 anos e 65,3% eram homens. Dos 55 casos de tendinopatia, 25,4% apresentaram mais de um tendão acometido, sendo os maisfrequentesopatelar(56,3%),omanguitorotador(30,9%)eodocotoveloou flexores das mãos (30,9%). A idade e o tempo de prática esportiva foram associados a uma maior chance de apresentar tendinopatia (5 e 8 vezes, respectivamente). A frequência dos alelos variantes nos controles e casos, respectivamente, foi: COL1A1 rs1107946 24,0 e 29,6%; COL1A2 rs412777 36,1 e 27,8%; rs42524 17,5 e 25,9%; e rs2621215 21,3 e 27,8%. Após ajuste pelos fatores de confundimento (idade e anos de práticas esportiva), os polimorfismos COL1A2 rs42524 e rs2621215 foram associados a um risco aumentado de tendinopatia (OR = 5,5; IC95% = 1,2-24,6 e OR = 3,9; IC95% = 1,1-13,5, respectivamente). O haplótipo COL1A2 CGT foi associado a um baixo risco para desenvolvimento da doença (OR = 0,5; IC95% = 0,3-0,9). Conclusão Aidade (> 25 anos), o tempo de prática esportiva (> 6 anos) e polimorfismos no gene COL1A2 aumentaram o risco de desenvolvimento da tendino-patia.

Debut de diabetes tipo 1 en niños durante la pandemia Covid-19 en el Hospital de Pediatría Juan P. Garrahan / Debut of type-1 diabetes in children during the COVID-19 pandemic at Hospital de Pediatría Juan P. Garrahan

Introducción: Según numerosos reportes, la pandemia por COVID­19 aumentó la incidencia de diabetes tipo 1 (DBT1) y cetoacidosis (CAD). Nuestro objetivo fue describir la frecuencia de nuevos casos de DBT1 y su severidad al ingreso en el Hospital J. P. Garrahan durante la pandemia, comparando con el periodo anterior. Material y métodos: Se realizó un estudio descriptivo, observacional, con análisis retrospectivo. Se incluyeron todos los nuevos casos entre 19/03/20- 31/12/21, comparados con el período 19/03/18-31/12/19. El diagnóstico de DBT1, CAD y su severidad se realizó según la International Society for Pediatric and Adolescent Diabetes. Se analizó el requerimiento de cuidados intensivos (UCI), presencia de COVID-19, hemoglobina glicosilada A1C (HbA1C) y autoanticuerpos (GADA, IAA, IA2, ZNT8). Se consideró significativa una p < 0,05. Resultados: En el período 2020-2021 se observó un incremento del 107% de nuevos casos, ingresando 56 pacientes con DBT1. La media y mediana de edad disminuyeron (8 vs 9,1 y 7,7 vs 10,4, respectivamente), con un incremento del 35% de menores de 5 años. Aumentó la frecuencia de CAD severa (41.1% vs 25.9%) y de requerimiento de UCI (17.9% vs 11.1%). La Hb A1C y la glucemia de ingreso mostraron incremento significativo (10.1% vs 12.32%, p<0.003 y 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectivamente). Conclusión: En 2020-2021 se incrementó el número de nuevos casos de DBT1 en nuestra institución. Al ingreso hubo mayor proporción de niños pequeños y casos severos. Las dificultades de acceso a la consulta de atención primaria podrían relacionarse con nuestro hallazgo (AU)

Introduction: Numerous reports have shown that during the COVID-19 pandemic the incidence of type-1 diabetes (T1DB) and ketoacidosis (DKA) increased. The aim of this study was to describe the frequency of new cases and their severity on admission of T1DB at Hospital J. P. Garrahan during the pandemic, compared with the previous period. Material and methods: A descriptive, observational study with a retrospective analysis was conducted. All new cases seen between 19/03/20-31/12/21 were included and compared with the period 19/03/18-31/12/19. The diagnosis of T1DB, DKA, and its severity was made according to the International Society for Pediatric and Adolescent Diabetes. Intensive care (ICU) requirement, presence of COVID-19, glycosylated hemoglobin A1C (HbA1C), and autoantibodies (GADA, IAA, IA2, ZNT8) were analyzed. A p < 0.05 was considered significant. Results: In the period 2020-2021, a 107% increase in new cases was observed including 56 patients with T1DB. Mean and median age decreased (8 vs 9.1 and 7.7 vs 10.4, respectively), with a 35% increase in children under 5 years of age. The frequency of severe DKA (41.1% vs 25.9%) and ICU requirement (17.9% vs 11.1%) increased. Hb A1C and glycemia on admission also showed a significant increase (10.1% vs 12.32%, p<0.003 and 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectively). Conclusion: In 2020-2021 an increase in the number of new cases of T1DB was observed at our institution. On admission, a higher rate of young children and severe cases was found. Difficulties to access primary care may have been related to our finding (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)

Evaluación del desempeño cognitivo en escolares y adolescentes con diabetes mellitus tipo 1 / Evaluation of cognitive performance in children and adolescents with type 1 diabetes mellitus

Resumen El objetivo del trabajo fue evaluar el funcionamiento cognitivo de niños y adolescentes con diabetes mellitus tipo 1 (DM1) de la consulta de Endocrinología del IAHULA, y compararlo al de niños no diabéticos, así como investigar la posible influencia de factores relacionados con la enfermedad sobre la cognición. Se realizó un estudio observacional analítico, transversal, que incluyó un grupo de 30 pacientes con DM1 de 8 a 16 años de edad (16 varones) y un grupo control de 30 individuos pareados por edad, género, escolaridad y condición socioeconómica. Se realizó interrogatorio y revisión de historias clínicas para obtener datos sobre las características clínicas y el tratamiento de la DM1. Se les aplicó el test WISC IV para evaluar cognición y cociente intelectual (CI). La edad promedio de los pacientes fue de 13,27 ± 2,31 años, la mitad de ellos masculinos. Se encontraron puntajes menores en los distintos dominios del WISC IV en el grupo con DM1 al compararlos con los del grupo control (p<0,01). El CI fue menor en los niños con DM1 que en los controles (75,47 ± 13,87 frente a 88,57±11,06; p=0,0001); así mismo, se observó con mayor frecuencia un puntaje del CI inferior al percentil 10 en los pacientes con DM1 en comparación con los controles (63,3% frente a 33,3%; p=0,02; Odds ratio: 3,45; IC95%: 1,19-9,99). Se concluyó que la DM1 impacta negativamente el desempeño cognitivo de niños y adolescentes. Se recomienda la evaluación cognitiva de estos pacientes, ya que podría repercutir en su vida diaria.

Abstract The study aimed to evaluate the cognitive functioning of children and adolescents with type 1 diabetes mellitus (T1DM) recruited from the IAHULA Endocrinology Outpatient Unit and to compare it to that of non-diabetics as to investigate the influence on cognition of factors related to the disease. An analytical, cross-sectional observational study was carried out on a group of 30 patients with T1DM between 8 and 16 years of age and on a control group of 30 individuals matched by age, gender, education, and socioeconomic status. Interrogation and review of medical records to obtain data on the clinical characteristics and treatment of T1DM were conducted. The WISC IV test was then applied to evaluate cognition and intellectual coefficient (IQ). The average age of the diabetic patients was 13.27±2.31 years, and half of them were male. Lower scores were found in the different domains of the WISC IV in the group with T1DM (p<0.01). The IQ was found to be lower in children with T1DM than in controls (75.47±13.87 vs. 88.57±11.06; p=0.0001). Likewise, a higher frequency of IQ scores below the 10th percentile was observed in the diabetic children (63.3% vs. 33.3%; p=0.02; Odds ratio: 3.45; 95%CI: 1.19-9.99). It was concluded that T1DM negatively impacts the cognitive performance of children and adolescents. Cognitive evaluation of these patients is recommended, as it could affect their daily life.