ABSTRACT
Abstract Visceral leishmaniasis (VL) is an infectious disease predominant in countries located in the tropics. The prediction of occurrence of infectious diseases through epidemiologic modeling has revealed to be an important tool in the understanding of its occurrence dynamic. The objective of this study was to develop a forecasting model for the incidence of VL in Maranhão using the Seasonal Autoregressive Integrated Moving Average model (SARIMA). We collected monthly data regarding VL cases from the National Disease Notification System (SINAN) corresponding to the period between 2001 and 2018. The Box-Jenkins method was applied in order to adjust a SARIMA prediction model for VL general incidence and by sex (male or female) for the period between January 2019 and December 2013. For 216 months of this time series, 10,431 cases of VL were notified in Maranhão, with an average of 579 cases per year. With regard to age range, there was a higher incidence among the pediatric public (0 to 14 years of age). There was a predominance in male cases, 6437 (61.71%). The Box-Pierce test figures for overall, male and female genders supported by the results of the Ljung-Box test suggest that the autocorrelations of residual values act as white noise. Regarding monthly occurrences in general and by gender, the SARIMA models (2,0,0) (2,0,0), (0,1,1) (0,1,1) and (0,1,1) (2, 0, 0) were the ones that mostly adjusted to the data respectively. The model SARIMA has proven to be an adequate tool for predicting and analyzing the trends in VL incidence in Maranhão. The time variation determination and its prediction are decisive in providing guidance in health measure intervention.
Resumo A leishmaniose visceral (LV) é uma doença de natureza infecciosa, predominante em países de zonas tropicais. A predição de ocorrência de doenças infecciosas através da modelagem epidemiológica tem se revelado uma importante ferramenta no entendimento de sua dinâmica de ocorrência. O objetivo deste estudo foi desenvolver um modelo de previsão da incidência da LV no Maranhão usando o modelo de Média Móvel Integrada Autocorrelacionada Sazonal (SARIMA). Foram coletados os dados mensais de casos de LV através do Sistema de Informação de Agravos de Notificação (SINAN) correspondentes ao período de 2001 a 2018. O método de Box-Jenkins foi aplicado para ajustar um modelo de predição SARIMA para incidência geral e por sexo (masculino e feminino) de LV para o período de janeiro de 2019 a dezembro de 2023. Durante o período de 216 meses dessa série temporal, foram registrados 10.431 casos de LV no Maranhão, com uma média de 579 casos por ano. Em relação à faixa etária, houve maior registro no público pediátrico (0 a 14 anos). Houve predominância do sexo masculino, com 6437 casos (61,71%). Os valores do teste de Box-Pierce para incidência geral, sexo masculino e feminino reforçados pelos resultados do teste Ljung-Box sugerem que as autocorrelações de resíduos apresentam um comportamento de ruído branco. Para incidência mensal geral e por sexo masculino e feminino, os modelos SARIMA (2,0,0) (2,0,0), (0,1,1) (0,1,1) e (0,1,1) (2, 0, 0) foram os que mais se ajustaram aos dados, respectivamente. O modelo SARIMA se mostrou uma ferramenta adequada de previsão e análise da tendência de incidência da LV no Maranhão. A determinação da variação temporal e sua predição são determinantes no norteamento de medidas de intervenção em saúde.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Leishmaniasis, Visceral/diagnosis , Leishmaniasis, Visceral/epidemiology , Seasons , Brazil/epidemiology , Incidence , Models, StatisticalABSTRACT
Abstract Objective: family-centered care during invasive procedures has been endorsed by many professional health care organizations. The aim of this study was to evaluate the health professionals' attitudes towards parental presence during their child's invasive procedure. Method: pediatric healthcare providers (divided in professional categories and range of ages) from one of the Spain's largest hospitals were asked to complete a questionnaire and write free-text comments. Results: 227 responded the survey. Most (72%) participants, in their answers, reported that parents are sometimes present during interventions, although there were differences between professional categories in this respect. The procedures in which the parents were present were those considered "less invasive" (96% of cases), while only 4% were present in those considered "more invasive". The older the professional, the less necessary parental presence was considered. Conclusion: the attitudes towards parental presence during pediatric invasive procedure are influenced by the professional category, the age of the healthcare provider and the invasiveness of the procedure.
Resumo Objetivo: o atendimento centrado na família durante procedimentos invasivos tem sido endossado por muitas organizações profissionais de saúde. O objetivo deste estudo foi avaliar as atitudes dos profissionais de saúde em relação à presença dos pais durante o procedimento invasivo realizado em seus filhos. Método: os prestadores de serviços de saúde pediátricos (divididos em categorias profissionais e faixa etária) de um dos maiores hospitais da Espanha foram solicitados a preencher um questionário e escrever comentários de texto livre. Resultados: a pesquisa foi respondida por 227 pessoas. A maioria (72%) dos participantes, em suas respostas, relatou que os pais algumas vezes estão presentes durante as intervenções, embora houvesse diferenças entre as categorias profissionais a esse respeito. Os procedimentos em que os pais estavam presentes eram aqueles considerados "menos invasivos" (96% dos casos), enquanto apenas 4% estavam presentes naqueles considerados "mais invasivos". Quanto mais velho o profissional, a presença dos pais foi considerada menos necessária. Conclusão: as atitudes em relação à presença dos pais durante o procedimento pediátrico invasivo são influenciadas pela categoria profissional, a idade do prestador de serviço de saúde e a invasividade do procedimento.
Resumen Objetivo: la atención centrada en la familia durante procedimientos invasivos ha sido respaldada por muchas organizaciones profesionales dedicadas al cuidado de la salud. El objetivo de este estudio fue evaluar las actitudes de los profesionales de la salud con respecto a la presencia de los padres durante los procedimientos invasivos realizados en niños. Método: a los prestadores de atención médica en Pediatría (divididos en categorías profesionales y rangos de edad) de uno de los hospitales más importantes de España se les solicitó que respondieran un cuestionario y redactaran comentarios de texto libre. Resultados: un total de 227 profesionales respondieron la encuesta. En sus respuestas, la mayoría (72%) de los participantes informó que, en ocasiones, los padres están presentes durante las intervenciones, aunque se registraron diferencias entre las distintas categorías profesionales al respecto. Los procedimientos en los que los padres estuvieron presentes se consideraron como "menos invasivos" (96% de los casos), mientras que solamente el 4% estuvo presente en los considerados "más invasivos". A mayor edad de los profesionales, menos necesaria se consideró la presencia de los padres. Conclusión: las actitudes con respecto a la presencia de los padres durante procedimientos pediátricos invasivos se vieron influenciadas por la categoría profesional, la edad del prestador de salud y la invasividad de los procedimientos.
Subject(s)
Humans , Child , Professional-Family Relations , Attitude of Health Personnel , Child Care , Surveys and Questionnaires , Pain, ProceduralABSTRACT
El objetivo principal de este estudio fue comparar a niños se-leccionados en un contexto comunitario con TDAH, alto rendimiento, y desarrollo normotípico, en una tarea de atención sostenida. Se selecciona-ron tres grupos de niños: TDAH (n= 42), alto rendimiento (n= 20) y desarrollo normotípico (n= 28). Se aplicó una tarea breve de vigilancia computarizada (CSAT-R) para comparar la capacidad deatención y el tiempo de reacción. Para analizar la validez clínica, los participantes se divi-dieron en aquellos con "disfunción atencional" y aquellos con "atención normal. Los niños con alto rendimiento se diferenciaron claramente de los otros dos grupos, con tamaños del efecto grandes. Las diferencias entre los grupos normotípico y TDAH solo fueron significativas en los errores y en un índice no paramétrico de capacidad de atención, pero con tamaños del efecto pequeños. La CSAT-R mostró una buena especificidad y un valor predictivo positivo aceptable, pero niveles bajos de sensibilidad y un pobre valor predictivo negativo. Por tanto, la atención sostenida podría ser un mecanismo destacado en niños con altas capacidades. La CSAT-R (y pro-bablemente la mayoría de las tareas de atención) sería moderadamente útil en entornos comunitarios para el diagnóstico del TDAH, pero no para des-cartarlo.(AU)
The main objective of this study was to compare children select-ed in a community setting with ADHD, high-performance, and normo-typical development on a sustained attention task. Three groups of chil-dren were selected: ADHD (n= 42), high-performance (n= 20), and nor-mo-typical development (n= 28). A brief computerized vigilance task (CSAT-R) was applied to compare attentional capacity and reaction time. The participants were divided into those with attentional dysfunction and those with normal attention to analyze clinical validity. Children with high-performance were clearly differentiated from the other two groups, with large effect sizes. The differences between normo-typical and ADHD groups were only significant in the errors and in a nonparametric index of attentional capacity, but with small effect sizes. The CSAT-R showed good specificity and an acceptable positive predictive value, but low levels of sensitivity, and a poor negative predictive value. Therefore, sustained attention could be a prominent mechanism in children with high capacities. The CSAT-R (and probably most of attentional tasks) would be moderately useful in community settings for ADHD diagnosis, but not to rule it out.(AU)
Subject(s)
Humans , Male , Female , Child , Attention Deficit Disorder with Hyperactivity , Neuropsychology , Psychology, ChildABSTRACT
La presente investigación se centra en la percepción de ser agresor en niños de primaria que acosan, y su relación con el sexo, la etapa educativa y el tipo de conducta agresiva. Nuestro objetivo fue comprender mejor la relación entre las conductas agresivas y la percepción de ser agresor. Se hipotetizó que los comportamientos agresivos estarían relacionados con la percepción de ser agresor. Un total de 4646 estudiantes de 7 a 12 años participaron en este estudio correlacional. Se administró el cuestionario EBIPQ para evaluar la agresividad, mientras que la percepción de ser agresor se evaluó con una pregunta directa. Un 14.9 % de los participantes se consideraron acosadores, y un 4.4 % acosadores frecuentes, según sus respuestas en el EBIPQ. Un 21.4 % de los acosadores y un 32 % de los acosadores frecuentes admitieron haber acosado. La percepción de ser agresor fue independiente del sexo y la etapa educativa. Por otra parte, algunas conductas agresivas se asociaron más que otras a la percepción de ser agresor. Los resultados sugieren una dificultad para considerarse acosador, especialmente en ciertas conductas agresivas. Finamente, se discute la necesidad de profundizar en los factores que influyen en la percepción de ser acosador.(AU)
The present research focuses on the self-admission of being a bully in primary school children who bully, and studies it in relation to sex, educational stage and type of bullying behavior. Our objective was to un-derstand better the relationship between aggressive behaviors and bullying self-admission. We hypothesized aggressive behaviors would be related to bullying self-admission. A total of 4646 primary school students aged from 7 to 12 years participated in this correlational study. The EBIPQ question-naire was administered to evaluate childrens aggressive behaviors, whereas bullying self-admission was evaluated through a direct question. From the total of participants, 14.9 % were considered bullies, and 4.4 % frequent bullies, according to their responses to the EBIPQ. Among bullies, 21.4 % admitted having bullied others, and this percentage increased to 32 % for frequent bullies. Self-admission of being a bully was independent of sex and educational stage. On the other hand, some aggressive behaviors were more associated than others to self-admission ofbeing a bully. Results suggest reluctance in children to consider themselves as bullies, especially in some types of aggressive behaviors. Finally, we discuss the need to study further the factors influencing the self-admission of being a bully.(AU)
Subject(s)
Humans , Male , Female , Child , Bullying , Education, Primary and Secondary , Behavior , Aggression , Surveys and QuestionnairesABSTRACT
Entre as perdas precoces de um elemento dental ocorre em grande frequência a do primeiro molar permanente, que normalmente tem o seu irrompimento por volta dos 6 anos de idade, e são propensos a serem acometidos por lesões cariosas que se não cuidadas precocemente pode-se levar a perda do elemento dental. Há também outros agentes que ocasionam a perda do elemento como o trauma de baixa intensidade, tais como, os cálculos dentários, os hábitos bucais deletérios e principalmente a falta de motivação de higiene oral. Diante disto, este trabalho visa a apresentação de um caso clínico de um paciente de 9 anos de idade, sem alterações sistêmicas, com grande destruição coronária no dente 26. Os exames de imagens foram colaboradores para diagnóstico e definição da extração. Foi realizada a exodontia em campo aberto. O paciente foi instruído quanto à higiene bucal e futuramente encaminhado para um tratamento ortodôntico. Conclui-se que o Cirurgião Dentista tem papel fundamental no diagnóstico e tratamento dessas alterações dentais, enfatizando a importância do tratamento restaurador de lesões cariosas precocemente, remoção de qualquer agente irritante de baixa intensidade e na motivação da higiene bucal(AU)
Among the early loss of a dental element, the loss of the first permanent molar occurs very frequently, which usually has its eruption around the age of 6 years, and they are prone to be affected by carious lesions that, if not treated early, can if it leads to loss of the dental element. There are also other agents that cause the loss of the element, such as low-intensity trauma, such as dental calculi, deleterious oral habits and especially the lack of motivation for oral hygiene. Therefore, this work aims to present a clinical case of a 9-year-old patient, without systemic alterations, with great coronary destruction in tooth 26. The imaging exams collaborated for the diagnosis and definition of the extraction. The extraction was performed in an open field. The patient was instructed about oral hygiene and later referred for orthodontic treatment. It is concluded that the Dental Surgeon has a fundamental role in the diagnosis and treatment of these dental alterations, emphasizing the importance of an early restorative treatment of carious lesions, removal of any low-intensity irritant and in the motivation of oral hygiene(AU)
Subject(s)
Humans , Male , Child , Surgery, Oral , Molar , Oral Hygiene , Dental Caries , DentistsABSTRACT
Introducción: La fluorosis dental es una patología endémica causada por la ingestión excesiva de fluoruros que pueden producir una alteración durante el desarrollo del esmalte, y es considerado un importante problema de salud pública porque afecta la salud bucal y sistémica de la población. Objetivo: Este estudio tuvo como idea principal determinar la frecuencia y los niveles de fluorosis dental en escolares de 12 a 15 años pertenecientes a dos instituciones educativas de Lima - Perú. Método: Se realizó un estudio descriptivo de tipo transversal, la muestra estuvo conformada por 252 estudiantes, entre 12 y 15 años de dos centros educativos de Lima. El muestreo fue por selección sistemática de elementos muestrales. La fluorosis dental se evalúo mediante el Índice de Dean. Para determinar la frecuencia y los niveles de fluorosis dental, se realizó un examen clínico bucal y se desarrolló un cuestionario validado previamente. Resultados: La frecuencia de fluorosis dental fue de 44,8% (n=113) afectando más a los varones en un 27,39% (n=69) y a los adolescentes de 13 años (15,1%). En relación con los niveles de fluorosis, predominó el tipo "muy leve" (34,9%). También se encontró una asociación entre la presencia y el nivel de fluorosis con el número de aplicaciones de flúor (p<0,05). Además, se dijo que el índice comunitario de fluorosis de Dean fue de 0,43. Conclusiones: En la población escolar evaluada, la frecuencia de fluorosis fue de 44,8% y el nivel predominante de fluorosis fue muy leve. Además, el índice comunitario fue de 0,43, el cual mostró un nivel límite de importancia para la salud pública. Por lo que se puede considerar que el número de aplicaciones tópicas de flúor recibido por la población sin una planificación adecuada se podría convertir en un factor de riesgo para causar fluorosis dental.
Introduction: Dental fluorosis is an endemic pathology caused by the excessive ingestion of fluorides that can produce an alteration during the development of the enamel and is considered an important public health problema because it affects the oral and systemic health of the population. Objective: The objective of this study was to determine the frequency and levels of dental fluorosis in school children between 12 and 15 years of age belonging to two educational institutions in Lima, Peru. Method: A descriptive cross-sectional study was carried out, the sample consisted of 252 students between 12 and 15 years of age from two educational centers in Lima. Sampling was by systematic selection of sample elements. Dental fluorosis was evaluated using the Dean Index. To determine the frequency and levels of dental fluorosis a clinical oral examination was carried out and a previously validated questionnaire was developed. Results: The frequency of dental fluorosis was 44.8% (n=113) affecting more males by 27.39% (n=69) and adolescents aged 13 years (15.1%). In relation to the levels of fluorosis, the "very mild" type predominated (34.9%). An association was also found between the presence and level of fluorosis with the number of fluoride applications (p<0.05). In addition, Dean's community fluorosis index was reported to be 0.43. Conclusions: In the school population evaluated, the frequency of fluorosis was 44.8% and the predominant level of fluorosis was very mild. In addition, the community index was 0.43, which indicated a borderline level of public health importance. Therefore, it can be considered that the number of topical fluoride applications received by the population without adequate planning could become a risk factor for causing dental fluorosis.
Subject(s)
Humans , Male , Female , Child , Adolescent , Dental Caries/drug therapy , Fluorosis, Dental/epidemiology , PeruABSTRACT
Introduction: Every year, millions of children and adolescents undergo surgery, 50%-75% of them experience fear and anxiety. Children are particularly susceptible to stress and anxiety surrounding surgery as a result of their cognitive development, previous experiences, and knowledge about healthcare; this leads to additional interventions to prevent and reduce these symptoms. Objective: To evaluate the effectiveness of family-centered educational interventions in the children's and adolescents' anxiety, pain, and behaviors and their parents' anxiety during the perioperative period. Methods: This review will follow the Joanna Briggs Institute guidelines for systematic reviews of effectiveness and will consider those studies (experimental and quasi-experimental) in which perioperative educational interventions have been applied to children and adolescents and their parents; these studies measured children and adolescents' pain, anxiety, and behaviors, as well as their parent's anxiety. An initial search of MEDLINE and CINAHL will be followed by a second search for published and unpublished studies from January 2007 on, available in English, Spanish and Portuguese. After all full texts are retrieved, the methodological quality assessment and data extraction will be independently and critically evaluated by two reviewers, and the data will then be presented in a tabular format. An explanatory synthesis will accompany the results. Whenever possible, a meta-analysis will be performed, and a Grading of Recommendations, Assessment, Development, and Evaluation Summary of Findings will be presented. Expected Results: This review will provide guidance on how family-centred educational interventions can be used as a resource to manage anxiety, pain, and behavior in children, adolescents and their relatives during the perioperative processes.
Introducción: Cada año, millones de personas menores y adolescentes se someten a cirugía, de las cuales entre el 50-75 % experimenta miedo y ansiedad. Las niñas y los niños son particularmente susceptibles al estrés y la ansiedad que rodea a la cirugía, como resultado de su desarrollo cognitivo, experiencias previas y conocimiento de la salud, lo que requiere intervenciones para prevenir y reducir estos síntomas. Objetivo: Esta revisión tiene como objetivo evaluar la efectividad de las intervenciones educativas familiares centradas en la ansiedad, el dolor y los comportamientos de las personas menores y adolescentes y de sus progenitores en el período perioperatorio. Métodos: Esta revisión seguirá las pautas del Instituto Joanna Briggs para revisiones sistemáticas de efectividad y considerará estudios experimentales y cuasiexperimentales en los que las intervenciones educativas perioperatorias para medir el dolor, la ansiedad y los comportamientos en niñas, niños y adolescentes y la ansiedad de sus progenitores. Se ha realizado una búsqueda inicial limitada de MEDLINE y CINAHL. Además, una segunda búsqueda de estudios publicados y no publicados de enero de 2007 disponibles en inglés, español y portugués. Una vez recuperados los textos completos, dos revisores evaluarán críticamente, de forma independiente, la calidad metodológica y la extracción de datos y se presentarán en forma de tabla. Una síntesis narrativa acompañará a los resultados y, si es posible, se realizará un metanálisis y se presentará un Grading of Recommendations, Assessment, Development and Evaluation. Resultados esperados: Esta revisión brindará orientación sobre cómo las intervenciones educativas centradas en la familia pueden usarse como un recurso para controlar la ansiedad, el dolor y el comportamiento en niñas, niños, adolescentes y sus familias en el contexto perioperatorio.
Introdução: Todos os anos, milhões de crianças e adolescentes são submetidos a cirurgias e 50-75% apresentam medo e ansiedade. Crianças/adolescentes são particularmente suscetíveis ao stress e ansiedade em torno da cirurgia devido ao seu desenvolvimento cognitivo, experiências anteriores e conhecimento que possuem sobre os cuidados de saúde, necessitando de intervenções para a prevenção/redução destes sintomas. Objetivo: Avaliar a eficácia de intervenções educacionais centradas na família na ansiedade, dor e comportamentos de crianças/adolescentes e ansiedade dos pais no período perioperatório. Métodos: Esta revisão seguirá a metodologia do Instituto Joanna Briggs para revisões sistemáticas de eficácia e considerará estudos (experimentais e quase-experimentais) em que as intervenções educacionais perioperatórias tenham sido aplicadas a crianças/ adolescentes e seus pais e avaliadas a dor, ansiedade e comportamento em crianças/adolescentes e ansiedade dos pais como resultados. Uma pesquisa inicial limitada de MEDLINE e CINAHL foi realizada. Será seguida por uma segunda busca por estudos publicados e não publicados de janeiro de 2007 disponíveis em inglês, espanhol e português. Após a recuperação dos textos completos, a avaliação da qualidade metodológica e a extração de dados serão avaliadas de forma crítica e independente por dois revisores e apresentadas em forma de tabela. Uma síntese narrativa acompanhará os resultados e, se possível, uma meta-análise será realizada e um resumo das Grading of Recommendations, Assessment, Development and Evaluation apresentado. Resultados esperados: Esta revisão fornecerá orientações sobre como as intervenções educativas centradas na família podem ser utilizadas como um recurso para gestão da ansiedade, dor e comportamento em crianças, adolescentes e suas famílias no contexto perioperatório.
Subject(s)
Humans , Child , Anxiety/nursing , Pain/psychology , Perioperative Nursing , EducationABSTRACT
Introduction: Infantile fibrosarcoma is a rare non-rhabdomyosarcomatous soft tissue tumor (0.0005%) of which only 10% occur in the abdomen where they rarely affect the gastrointestinal tract. The median age at diagnosis is 3 months although 40% of them are present at birth. Material and methods: When infantile fibrosarcoma is diagnosed in our center, a clinicalpathological description is made together with a bibliographic review. Results: We present the case of a 6-day-old girl who presented with irritability and rejection of food. She was diagnosed with acute abdomen due to perforation and underwent surgery where a mass on the ascending colon was removed. Histopathology revealed a proliferation of spindle cells consisting of intertwined fascicles, infiltrating the adjacent tissues. Nuclear pleomorphism, few mitoses, foci of necrosis and hemorrhage are seen. Immunohistochemistry showed positivity for Pan-TRK and the NGS panel (Archer DX) demonstrated the TPR::NTRK1 fusion. No case with these characteristics, location or TPR::NTRK1 fusion were found in the literature. Conclusions: Infantile fibrosarcoma is a very infrequent tumor which is exceptionally rare in the intestine. It is important to look for the characteristic genetic rearrangement of these tumors both to confirm the diagnosis and differentiate them from other pediatric spindle cell tumors and determine the correct targeted treatment. Selective TRK inhibitors have shown a 75% response rate in children and adults with tumors that exhibit TRK fusion. It was possible to find fusions with the Archer DX panel that the Oncomine panel did not detect.(AU)
Introducción: El fibrosarcoma infantil es un tumor infrecuente del tejido blando no rabdomiosarcomatoso (0,0005%). Solo el 10% se produce en el abdomen y pocos de ellos afectan al tracto gastrointestinal. La edad media de su diagnóstico es de 3 meses, presentándose el 40% de ellos al nacer. Material y métodos: Con motivo del diagnóstico de un caso de fibrosarcoma infantil en nuestro centro realizamos una descripción clínico-patológica del mismo, y llevamos a cabo una revisión de la literatura al respecto. Resultados: Presentamos el caso de una niña de 6 días de edad, que inició con irritabilidad y rechazo de alimentos, a quien se diagnosticó abdomen agudo debido a perforación. En la intervención quirúrgica se extirpó una masa dependiente en el colon ascendente. El estudio histológico mostró una proliferación de células fusiformes compuesta de fascículos entrelazados, con infiltración en los tejidos adyacentes. Se identificaron pleomorfismo nuclear, pocas mitosis, focos de necrosis y hemorragia. Se obtuvo positividad inmunohistoquímica para Pan-TRK, demostrando el panel de NGS (Archer DX) la fusión TPR::NTRK1. No encontramos en la literatura ningún caso con estas características, localización intestinal y fusión TPR::NTRK1. Conclusiones: El fibrosarcoma infantil es un tumor muy raro, siendo excepcional la localización intestinal. Es importante la búsqueda de la reorganización genética característica de estos tumores, tanto para esclarecer el diagnóstico como para diferenciarlos de otros tumores de células fusiformes de aparición en niños, así como para aportar un tratamiento focalizado. Los inhibidores selectivos de TRK han reflejado una tasa de respuesta del 75% en niños y adultos con tumores que exhiben fusión de TRK. Fue posible encontrar fusiones utilizando el panel Archer DX, no detectadas por el panel Oncomine.(AU)
Subject(s)
Humans , Female , Child , Inpatients , Physical Examination , Fibrosarcoma , Surgical Procedures, Operative , Neoplasms , Pediatrics , Epidemiology, DescriptiveABSTRACT
Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.(AU)
La deficiencia de lipasa ácida lisosomal (LAL) es una enfermedad autosómica recesiva inusual, causada por mutaciones en el gen LIPA, que genera acumulación de éster de colesterol y triglicéridos predominantemente en hepatocitos, glándulas suprarrenales y tracto gastrointestinal. Describimos 2 casos adicionales que ocurrieron en 2 hermanos, de 5 y 7 años, que presentaron hepatomegalia, dislipidemia y función hepática anormal. La biopsia hepática percutánea reveló inflamación portal leve, células de Kupffer hipertróficas, con un aspecto espumoso y esteatosis microvesicular difusa con fibrosis. La inmunotinción de marcadores lisosomales, catepsina D y LAMP1, reflejó la naturaleza lisosomal de las vacuolas lipídicas. Después de la confirmación enzimática, ambos hermanos iniciaron terapia de reemplazo enzimático. Los niveles de transaminasas y los perfiles lipídicos de seguimiento mostraron una disminución notoria en AST y ALT y un ligero aumento en el colesterol HDL. Es crucial aumentar la conciencia de esta inusual condición entre médicos y patólogos. La expresión de marcadores lisosomales alrededor de las vacuolas lipídicas podría ayudar a diagnosticar la deficiencia de LAL en pacientes pediátricos.(AU)
Subject(s)
Humans , Male , Child, Preschool , Child , Lipase , Cholesterol Esters , Fatty Liver , Inpatients , Physical Examination , Pediatrics , Enzyme TherapyABSTRACT
Introduction: Frasier syndrome is a genetic disorder produced by a mutation in intron 9 of the WT1 gene, responsible for renal and genital dysfunctions. Clinical findings: It is characterized by discrepancy between the individual karyotype and the individual phenotype and corticosteroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis. Patients usually have a female phenotype with a 46 XY karyotype, which increases the risk of gonadoblastoma in 50% of cases. Kidney disease requires kidney transplantation in adulthood. Cardiovascular and bone-derived comorbidities such as hyperlipidaemia and osteopenia/osteoporosis, respectively, are also common. Main diagnoses: Mutations of the WT1 gene can lead to different clinical entities, most notably Denysh-Drash syndrome, Frasier syndrome, or isolated focal segmental glomerulosclerosis. We present a clinical case of a woman who debuted in childhood with difficult-to-control nephrotic syndrome, the lack of pubertal development, primary amenorrhoea and the absence of ovaries on imaging tests in adolescence, alerted to an underlying genetic problem that, after cytogenetic studies, allowed a diagnosis of Frasier syndrome. Therapeutic interventions: It is recommended to remove the gonads due to increased risk of developing gonadoblastoma. Treatment of associated dyslipidaemia and osteopenia is also necessary. Conclusion: Frasier syndrome is an unusual cause of infertility due to gonadal dysgenesis and is associated with kidney problems.(AU)
Introducción: El síndrome de Frasier es un trastorno genético producido por una mutación en el intrón 9 del gen WT1, responsable de disfunciones a nivel renal y genital. Principales síntomas: Se caracteriza por disgenesia gonadal con discrepancia entre cariotipo-fenotipo y síndrome nefrótico resistente a corticoides debido a glomeruloesclerosis focal y segmentaria. Las pacientes presentan habitualmente fenotipo femenino con cariotipo 46 XY, lo que aumenta el riesgo de gonadoblastoma en un 50% de los casos. La enfermedad renal obliga a trasplante renal en la edad adulta. Son habituales también las comorbilidades derivadas a nivel cardiovascular y óseo como hiperlipidemia y osteopenia/osteoporosis, respectivamente. Diagnósticos principales: Las mutaciones del gen WT1 pueden conducir en distintas entidades clínicas entre las que destaca el síndrome de Denys-Drash, el síndrome de Frasier o la glomeruloesclerosis focal y segmentaria aislada. Se presenta un caso clínico de una mujer que debutó en la infancia con síndrome nefrótico de difícil control y que, durante la adolescencia, ante la falta de desarrollo puberal, la amenorrea primaria y la ausencia de ovarios en las pruebas de imagen alertaron de un problema genético subyacente que, tras estudios citogenéticos, permitió el diagnóstico de síndrome de Frasier. Intervenciones terapéuticas: Se recomienda la exéresis de las gónadas debido al riesgo incrementado de gonadoblastoma. El tratamiento de la dislipemia y la osteopenia asociadas también es necesario. Conclusión: El síndrome de Frasier es una causa inusual de infertilidad debido a una disgenesia gonadal y se asocia con problemas a nivel renal.(AU)
Subject(s)
Humans , Female , Child , Gonadoblastoma , Glomerulonephritis, Membranous , Frasier Syndrome , Gonadal Dysgenesis , Inpatients , Physical ExaminationSubject(s)
Humans , Male , Child , Kidney Diseases/diagnosis , Kidney Diseases/therapy , Mutation , UromodulinSubject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Brain Injuries, Traumatic , Transportation , Accidents , Epidemiology, Descriptive , Spain , Accidental FallsABSTRACT
Introducción: La miopatía miotubular ligada al X es una miopatía centronuclear rara que afecta aproximadamente a 1 de cada 50.000 recién nacidos varones causada por variantes patógenas en el gen de la miotubularina 1 (MTM1). La gravedad clínica varía; sin embargo, la necesidad de soporte ventilatorio ocurre casi invariablemente. Caso clínico: Presentamos el caso de un niño de 4 años que presentaba hipotonía muscular leve a los 12 meses, trastorno del lenguaje expresivo, retraso global del desarrollo y trastorno del procesamiento sensorial. La secuenciación clínica del exoma identificó la variante hemicigótica c.722G>A p.(Arg241His) en el exón 9 del gen de la miotubularina 1 (NM_000252.2). La madre es portadora heterocigota de la misma variante. Se estableció el diagnóstico de una forma leve de miopatía miotubular ligada al cromosoma X de herencia materna. El niño presentó una mejoría significativa con terapias del habla, ocupacional y física, sin intercurrencias respiratorias ni dependencia de ventilador. Conclusión: La presentación de una forma leve de esta miopatía miotubular, al notificarse más raramente, añadió desafío al diagnóstico. La combinación de hipotonía leve, dificultades de alimentación y trastorno del lenguaje expresivo debe hacer sospechar una enfermedad neuromuscular. Se carece de puntuaciones motoras o de desarrollo verificadas específicas de esta miopatía para determinar el pronóstico y la necesidad de otras terapias. Aunque actualmente la gravedad de la miopatía miotubular se clasifica según la dependencia del ventilador, esto puede ser insuficiente e inaplicable a los casos más leves. Es evidente la necesidad de un sistema de clasificación para los casos leves y moderados que evalúe la debilidad muscular y la fatiga, las limitaciones de la vida diaria, el retraso del desarrollo motor, las puntuaciones fenotípicas tempranas o las infecciones respiratorias recurrentes.(AU)
Introduction: X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably. Case report: We report the case of a 4-year-old boy presenting mild muscle hypotonia at 12 months-old, expressive language disorder, global developmental delay, and a sensory processing disorder. Clinical exome sequencing identified the hemizygous variant c.722G>A p.(Arg241His) in exon 9 of the myotubularin 1 gene (NM_000252.2). The mother is a heterozygous carrier of the same variant. A diagnosis of a mild form of maternal inherited X-linked myotubular myopathy was established. The child presented significant improvement with speech, occupational, and physical therapies, with no respiratory intercurrences or ventilator dependency. Conclusion: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for mild and moderate cases assessing muscle weakness and fatigue, daily life limitations, motor developmental delay, early phenotypical scores, or recurrent respiratory infections.(AU)
Subject(s)
Humans , Male , Child , Myopathies, Structural, Congenital , X Chromosome , Phenotype , Language Disorders , Muscle Hypotonia , Language Development Disorders , Neurology , PediatricsABSTRACT
Introducción: El daño cerebral adquirido (DCA) se define como una lesión neurológica, acaecida de forma aguda, en algún momento de la vida provocando deficiencia o pérdida de capacidad funcional. En el año 2019 se crea un documento específico por parte del defensor del pueblo señalando la relevancia de la atención a esta entidad en la edad pediátrica. Pacientes y método: Se presenta el proceso de creación y la casuística de atención de una de las primeras unidades de atención integral al DCA en fase subaguda en edad pediátrica dentro del sistema público de salud.Resultados: Se han elaborado diferentes guías clínicas sobre el proceso de admisión y atención dentro de la unidad, tanto al paciente como a sus familiares. Se han atendido 24 pacientes ≤18 años, ingresados en la unidad de DCA en fase subaguda desde noviembre de 2019 hasta julio de 2021, 12 provenientes de la Comunidad de Madrid. La mediana de edad fue de 6,97 años. El mecanismo traumático fue el más frecuente predominando las causas iatrogénicas, seguido de la precipitación y los accidentes relacionados con vehículos. A su ingreso en la unidad, 8 mantenían un estado de mínima conciencia/vegetativo. Se requirió la colaboración de hasta 14 especialistas diferentes dada la complejidad de los pacientes. La evolución fue globalmente favorable en 23 casos, con secuelas en todos ellos. Conclusión: Es de vital importancia la creación de unidades especializadas en la atención al DCA en edad pediátrica con protocolos de actuación específicos y un trabajo coordinado trans- y multidisciplinar.(AU)
Introduction: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. Patients and method: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. Results: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. Conclusion: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.(AU)
Subject(s)
Humans , Male , Female , Child , Brain Damage, Chronic , Practice Guidelines as Topic , Brain Injuries, Traumatic , Stroke , Pediatrics , Retrospective Studies , Cross-Sectional StudiesABSTRACT
Introducción: La epilepsia de la infancia con puntas centrotemporales (EIPCT) es la epilepsia focal autolimitada más frecuente. Este estudio tenía como objetivo evaluar los aspectos cognitivos, conductuales y otros aspectos neuropsicológicos de niños con EIPCT, y compararlos con un grupo de control. Sujetos y métodos: Se realizó un estudio de casos y controles entre enero y mayo de 2022. Se seleccionó para su inclusión en el estudio a pacientes con EIPCT, con edades comprendidas entre 6 y 18 años, en seguimiento en nuestro hospital. Por cada caso, se reclutó, de forma aleatoria, a dos controles de la misma edad. Todos los participantes realizaron la prueba EpiTrack Junior®, y sus padres rellenaron la lista de verificación del comportamiento infantil (CBCL). Resultados: Se incluyó a 18 pacientes (edad media: 8,7 ± 1,7 años). En el momento del diagnóstico de EIPCT, el 83% de los casos presentaba un desarrollo psicomotor adecuado, y el 17%, un trastorno del neurodesarrollo. Las puntuaciones del EpiTrack-Junior® y de la escala total de problemas de la CBCL no se vieron influidas por la lateralidad del foco epiléptico ni por el número de crisis. El 61% de los casos mostró un trastorno leve o significativo en la prueba EpiTrack-Junior® frente al 44% de los controles (p = 0,712), y el 39% de los casos frente al 14% de los controles tuvieron puntuaciones clínicamente significativas en la escala total de problemas de la CBCL. Conclusiones: Aunque este estudio no encontró diferencias estadísticamente significativas entre casos y controles, cabe señalar que la mayor parte de los pacientes con EIPCT presentaba un deterioro leve o significativo en las funciones ejecutivas. Un porcentaje considerable de casos se encontraba en el rango patológico en cuanto a problemas emocionales/conductuales. Este estudio destaca la importancia de examinar los problemas cognitivos, conductuales y emocionales de los pacientes con EIPCT.(AU)
Introduction: Self-limited epilepsy with centrotemporal spikes (SeLECTS) is the most frequent self-limited focal epilepsy. This study aimed to assess the cognitive, behavioral, and other neuropsychological aspects of children with SeLECTS, and compare them with a control group. Subjects and methods: A case-control study was carried out between January and May 2022. Patients with SeLECTS, aged between 6 and 18 years, and followed-up at our hospital were selected for inclusion in the study. For each case, two age-matched controls were opportunistically recruited. All the participants performed the EpiTrack Junior® test, and their parents filled out the Child Behavior Checklist (CBCL). Results: Eighteen patients were included (mean age: 8.7 ± 1.7 years). At SeLECTS diagnosis, 83% of cases had adequate psychomotor development, and 17% had a neurodevelopmental disorder. The EpiTrack-Junior® and the Total Problems CBCL scores were not influenced by the laterality of the epileptic focus nor by the number of seizures. 61% of cases showed mild or significant impairment in the EpiTrack-Junior® test versus 44% of controls (p = 0.712), and 39% of cases vs. 14% of controls had clinically significant scores on the Total Problems CBCL scale (p = 0.087). Conclusions: Although this study did not find statistically significant differences between cases and controls, it should be noted that most patients with SeLECTS had a mild or significant disability in executive functions. A considerable percentage of cases were in the pathological range regarding emotional/behavioral problems. This study highlights the importance of screening the cognitive, behavioral, and emotional problems in all patients with SeLECTS.(AU)
Subject(s)
Humans , Male , Female , Child , Adolescent , Comorbidity , Epilepsy, Rolandic , Epilepsy , Seizures , Cognitive Dysfunction , Neuropsychological Tests , Case-Control Studies , Neurology , Nervous System DiseasesABSTRACT
Aims To explore the value of otoscopy in diagnosing OME when performed by otorhinolaryngology, pediatrics, and primary care physicians; to evaluate the interobserver and intraobserver agreement of interpretation of otoscopy images. Material and methods A cross-sectional study using an anonymous mailed survey was used. We presented pre-recorded otoscopy images of pediatric patients to otorhinolaryngology, pediatrics, and primary care physicians (ten volunteer specialists and residents from each medical specialty). All participants had to answer yes or no if they considered that the image corresponded or not to an OME case, respectively. We considered that the images were positive for OME whenever the respective tympanogram was type B. Results Thirty-one otoscopy images and 1860 responses provided by sixty physicians were analyzed. The accuracy of otoscopy in diagnosing OME was highest in the Otolaryngologists group (mean 74.8%), with the worst rate observed in the primary care residents group (mean 51.3%). Overall sensitivity, specificity, and positive predictive value of otoscopy for diagnosing OME were significantly higher when performed by otorhinolaryngologists (75.8%, 72.8%, 66.8%, respectively). Fleiss' kappa showed that interobserver agreement was globally weak within each group of specialties, with overall better interobserver agreement observed among otorhinolaryngologists (κ = 0.30; 95% CI 0.270.32). Conclusion According to our data, simple otoscopy as a single diagnostic method in pediatric OME is insufficient, even for otorhinolaryngologists. Current recommendations must be followed to improve diagnostic accuracy. (AU)
Subject(s)
Humans , Child , Otoscopy , Otitis Media with Effusion , HyperacusisABSTRACT
Introduction: Adenotonsillar hypertrophy (ATH) is an important health condition that leads to upper airway obstruction and constitutes the main cause of obstructive sleep disordered breathing (OSDB) in children. The aim of this study was to analyze the effect of surgical intervention on spirometrical parameters of children with ATH/OSDB and upper airway recurrent infections (URTIs). Material and methods The study covered children treated surgically in a Pediatric Ambulatory Unit in a tertiary hospital. Spirometric tests were performed before and three months after surgery and results were compared. Results A total of 78 children were enrolled with a mean age of 6.95 ± 2,81 years. There was a significant improvement in forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), peak expiratory flow (PEF) and forced expiratory flow rate at 25% (F25) values after surgery in children suffering from OSDB (FVC pre: 1.52 ± 0.47 L vs FVC post: 1.85 ± 0.63 L, p < 0.001; FEV1 pre: 1.24 ± 0.38 L vs FEV1 post: 1.39 ± 0.40 L, p = 0.014; PEF pre: 2.04 ± 0.85 L/s vs PEF post: 2.33 ± 0.76 L/s, p = 0.014; F25 pre: 1.77 ± 0.77 L/s vs F25 post: 2.02 ± 0.73 L/s, p = 0.030). On a multivariate analysis model, preoperative tonsil size and performing tonsillectomy were the most significant determinants of improvement in spirometric values (p < 0.05). Children with isolated adenoid hypertrophy without tonsillar obstruction and those with URTIs alone did not show relevant differences in spirometric values after surgery (p > 0.05). No significant differences were found concerning pre-operative and post-operative forced expiratory flow rate at 75% (F75) and forced expiratory flow between 25 and 75% of the pulmonary volume (FEF2575%) in any group (p > 0.05). Conclusions Surgery seems effective in ameliorating spirometry values in patients with OSDB and ATH, namely FVC, FEV1, PEF and F25. ... (AU)
Introducción: La hipertrofia adenoamigdalar (HAA) es una importante condición de salud que conduce a la obstrucción de las vías respiratorias superiores y constituye la principal causa de trastornos respiratorios obstructivos del sueño (TROS) en los niños. El objetivo de este estudio fue analizar el efecto de la intervención quirúrgica sobre los parámetros espirométricos de niños con HAA/TROS e infecciones recurrentes de las vías respiratorias superiores (IrVAS). Material y Métodos El estudio abarcó a niños operados en una Unidad Ambulatoria Pediátrica de un hospital de tercer nivel. Se realizaron espirometrías antes y tres meses después de la cirugía y se compararon los resultados. Resultados Se incluyeron un total de 78 niños con una edad media de 6,95 ± 2,81 años. Hubo una mejora significativa en los valores de capacidad vital forzada (FVC), volumen espiratorio forzado en el primer segundo (FEV1), flujo espiratorio máximo (PEF) y tasa de flujo espiratorio forzado al 25 % (F25) después de la cirugía en niños que sufrían de TROS (FVC pre: 1.52 ± 0.47 L vs FVC post: 1.85 ± 0.63 L, p < 0.001; FEV1 pre: 1.24 ± 0.38 L vs FEV1 post: 1.39 ± 0.40 L, p = 0.014; PEF pre: 2.04 ± 0.85 L/s vs PEF post: 2.33 ± 0.76 L/s, p = 0.014; F25 pre: 1.77 ± 0.77 L/s vs F25 post: 2.02 ± 0.73 L/s, p = 0.030). En un modelo de análisis multivariado, el tamaño preoperatorio de las amígdalas y la amigdalectomía fueron los determinantes más significativos de la mejora en los valores espirométricos (p < 0.005). Los niños con hipertrofia adenoidea aislada sin obstrucción amigdalina y aquellos con IrVAS sin TROS no mostraron diferencias relevantes en los valores espirométricos tras la cirugía (p > 0,05). ... (AU)
Subject(s)
Humans , Child, Preschool , Child , Child , Respiratory Tract Infections , Spirometry , Hypertrophy/complications , Hypertrophy/surgery , Adenoidectomy/methods , Adenoidectomy/rehabilitationABSTRACT
Olá! Eu sou o Luciano Duro, médico de família e comunidade, mestre e doutor em epidemiologia. Chegamos no penúltimo episódio desta temporada, e nele, vou falar sobre uma revisão Cochrane, avaliando os benefícios e possíveis danos do Metilfenidato, a famosa Ritalina, em crianças e adolescentes com diagnóstico do Transtorno do déficit de atenção e hiperatividade, o TDAH. Nesse episódio eu vou, então, na parte de epidemiologia, falar sobre como interpretar os resultados de variáveis contínuas, aquelas como peso, altura, e, no caso do artigo apresentado, avaliações de escalas.
Subject(s)
Webcast , Evidence-Based Medicine , Methylphenidate/therapeutic use , Attention Deficit Disorder with Hyperactivity/drug therapy , Child , AdolescentABSTRACT
The clinical scenario of pediatric liver disease is becoming more intricate due to changes in the disease spectrum, in which an increasing number of inherited/ metabolic liver diseases are reported, while infectious diseases show a decreasing trend. The similar clinical manifestations caused by inherited/metabolic diseases might be under-recognized or misdiagnosed due to nonspecific characteristics. A delayed visit to a doctor due to a lack of symptoms or mild symptoms at an early stage will result in late diagnosis and treatment. Moreover, limited diagnostic approaches, especially liver biopsy, are not easily accepted by pediatric patients, leading to challenges in etiological diagnosis. Liver dysfunction due to inherited/metabolic diseases is often caused by a variety of metabolites, so precision treatment is difficult; symptomatic treatment is a compelling option for inherited disorders.
