Résumé
En 2015, se observó un incremento en la incidencia de microcefalia congénita en recién nacidos en Brasil. Meses más tarde, se descubrió la relación causal entre el virus del Zika y estos hallazgos. Durante el primer brote en la Argentina, se reportaron 5 casos de síndrome de Zika congénito. En 2017, hubo un nuevo brote que involucró la provincia de Salta. En este trabajo, se presentan 2 casos clínicos con síndrome de Zika congénito autóctonos: una paciente con microcefalia congénita grave con lisencefalia, calcificaciones corticosubcorticales y ventriculomegalia y otra paciente con microcefalia posnatal con polimicrogiria asimétrica y calcificaciones subcorticales y retraso en la mielinización. El real impacto de esta enfermedad aún es incierto; es necesario un adecuado seguimiento multidisciplinario de los pacientes expuestos al virus del Zika para comprender mejor la infección y su historia natural.
In 2015, there was an increase in the incidence of congenital microcephaly in newborns in Brazil. Months later, the causal relationship between Zika virus and these findings was discovered. In Argentina, during the first outbreak there were 5 cases of congenital Zika syndrome reported. In 2017, there was a new outbreak which involved Salta province. We describe 2 patients with autochthonous congenital Zika syndrome: one of the babies with severe congenital microcephaly with lissencephaly, calcifications and ventriculomegaly; and another baby with postnatal microcephaly with asymmetric polymicrogyria, calcifications and delayed myelination. The real impact of this disease is still uncertain, so it is necessary an adequate multidisciplinary monitoring of patients exposed to Zika virus to better understand the infection and its natural history.
Sujets)
Humains , Femelle , Nouveau-né , Nourrisson , Complications infectieuses de la grossesse , Incapacités de développement/étiologie , Infection par le virus Zika/complications , Infection par le virus Zika/congénital , MicrocéphalieRésumé
RESUMO O objetivo do estudo foi avaliar longitudinalmente o desempenho funcional de lactentes acometidos pela síndrome congênita do zika (SCZ). Realizou-se um estudo com lactentes provenientes do Laboratório de Estudos em Pediatria da Universidade Federal de Pernambuco e da Aliança de Mães e Famílias Raras, com idade entre 6 e 24 meses, de ambos os sexos. O Inventário de Avaliação Pediátrica de Incapacidade (PEDI) foi aplicado para análise do desempenho funcional em duas avaliações, com no mínimo seis meses de intervalo. A análise dos dados foi realizada pelo teste de Wilcoxon. Na amostra de 16 lactentes, observou-se que entre as avaliações houve mudança na classificação de normal para atraso nos domínios de autocuidado e função social, com diminuição significativa dos escores normativos (p=0,001 e p<0,001, respectivamente); na mobilidade, os lactentes inicialmente classificados com atraso também apresentaram redução dos escores normativos (p=0,001), mantendo-se na classificação. Apesar do aumento significativo nos escores brutos do autocuidado (p=0,024) e mobilidade (p=0,001), os lactentes continuaram classificados em atraso. Na assistência do cuidador, 100% dos lactentes se encontraram em atraso nos três domínios do PEDI, recebendo assistência máxima ou total. As principais modificações ambientais encontradas foram as centradas na criança. Em suma, os lactentes com SCZ deste estudo apresentaram atrasos significativos no desempenho funcional, com uma evolução lenta no intervalo de tempo avaliado.
RESUMEN El objetivo del estudio fue evaluar longitudinalmente el desempeño funcional de lactantes con síndrome congénito del zika (SCZ). Se realizó un estudio con lactantes de entre 6 y 24 meses, de ambos los sexos, identificados por el Laboratorio de Estudios en Pediatría de la Universidad Federal de Pernambuco y por la Aliança de Mães e Famílias Raras (Alianza de Madres y Familias Raras). Se aplicó el Inventario de Evaluación Pediátrica de Discapacidad (PEDI) para análisis del desempeño funcional en dos evaluaciones, con al menos seis meses de intervalo. El análisis de los datos fue realizado por la prueba de Wilcoxon. En la muestra de 16 lactantes se observó cambio en los campos de autocuidado y función social, de "normal" para "retraso", con disminución significativa de los puntajes normativos (p=0,001 y p<0,001, respectivamente). En la movilidad, los lactantes inicialmente clasificados con retraso también presentaron reducción de los puntajes normativos (p=0,001), manteniéndose en la clasificación. A pesar del aumento significativo en los puntajes netos del autocuidado (p=0,024) y movilidad (p=0,001), los lactantes continuaron clasificados en retraso. En la asistencia del cuidador, un 100% de los lactantes se encontraban en retraso en los tres dominios del PEDI, recibiendo asistencia máxima o total. Las principales modificaciones ambientales encontradas fueron las centradas en el niño. En resumen, los lactantes con SCZ presentaron retrasos significativos en el desempeño funcional, con una evolución lenta en el intervalo de tiempo evaluado.
ABSTRACT This study aimed to longitudinally evaluate the functional performance of infants affected by Congenital Zika Syndrome (CZS). A study was carried out with infants from the Laboratório de Estudos em Pediatria of the Universidade Federal de Pernambuco and the Aliança de Mães e Famílias Raras, aged between 6 and 24 months, of both genders. The Pediatric Evaluation of Disability Inventory (PEDI) was applied to analyze functional performance in two evaluations, with a minimum of six months interval between them. Data analysis was performed using the Wilcoxon test. In the sample of 16 infants, we observed a change in the classification from normal to delay in the domains of self-care and social function, with a significant decrease in normative scores (p=0.001 and p<0.001, respectively); in the mobility, individuals initially classified with delay also presented reduction of normative scores (p=0.001), remaining in the same classification. Despite the significant increase in gross self-care scores (p=0.024) and mobility (p=0.001), infants remained classified as delayed. Caregiver care was analyzed in these evaluation, in which 100% of infants were delayed in all three domains of the PEDI, receiving maximum or full care. The main environmental modifications were those focused on the child. We concluded that infants with CZS presented significant delays in functional performance, with a slow evolution in the evaluated range.
Sujets)
Humains , Mâle , Femelle , Nourrisson , Développement de l'enfant , Infection par le virus Zika/congénital , Complications infectieuses de la grossesse , Incapacités de développement/étiologie , Études longitudinales , Neuroimagerie fonctionnelle , Infection par le virus Zika/complications , Performance fonctionnelle physiqueRésumé
Abstract INTRODUCTION: Exposure to human immunodeficiency virus (HIV)-1 during pregnancy is a major risk factor for neurodevelopmental delay and deleterious effects in children. However, limited information about these conditions exists in poor geographical areas in Brazil. Prevention of vertical transmission of HIV-1 is dealt differently in different regions of the country and in poorer areas it is more difficult to evaluate the impact of the prevention methods. The outcomes of the exposure to HIV-1 and the impact of vertical HIV-1 transmission on neuropsychomotor development was evaluated for the first time in children born to HIV-infected mothers in the North region of Brazil, where the majority of the population has poor access to health services. METHODS: Sixty children born to HIV-1-infected mothers (case group) and 58 born to non-infected mothers (control group) were followed for the first 12 months of life in a prospective case-control study. Neuropsychomotor development was assessed using the Denver II test. RESULTS: Suspected neuropsychomotor developmental delays were more frequent in the case group (33.3%), namely in language (38.9%) and gross motor skills (27.8%). These delays were reversed in most children after 12 months of life due to therapeutic intervention. The delays were not reversed in three children, all of whom belonged to the case group. Only one of these was infected with HIV-1, and this child had the poorest neuropsychomotor outcomes. CONCLUSIONS: Maternal HIV-1 infection negatively affected the neuropsychomotor development in children, although other factors may have played a role.
Sujets)
Humains , Mâle , Femelle , Grossesse , Nourrisson , Adolescent , Jeune adulte , Complications infectieuses de la grossesse , Infections à VIH/complications , Incapacités de développement/étiologie , Transmission verticale de maladie infectieuse , Performance psychomotrice/physiologie , Facteurs socioéconomiques , Études cas-témoins , Infections à VIH/physiopathologie , Infections à VIH/transmission , Développement de l'enfant/physiologie , Études prospectives , Facteurs de risqueRésumé
RESUMO Objetivo: Comparar o desenvolvimento neuropsicomotor de lactentes nascidos prematuramente, com e sem displasia broncopulmonar, no primeiro ano de vida. Métodos: Estudo retrospectivo, do tipo transversal, realizado no período de 1º de janeiro de 2014 a 30 de dezembro de 2015, com lactentes prematuros, com peso < 1.500g ao nascer e diagnóstico de displasia broncopulmonar, na idade corrigida de 6 e 9 meses, avaliados pelo Teste de Triagem do Desenvolvimento DENVER II. As variáveis quantitativas foram descritas em médias, medianas e desvio padrão. Para as variáveis que apresentaram distribuição normal, aplicou-se o teste t de Student; do contrário, foi aplicado o teste de Mann-Whitney, considerando significância o valor de p < 0,05. As variáveis qualitativas foram descritas em frequências e porcentagens. Utilizou-se a regressão logística com análise da razão de chances para avaliar os efeitos das outras variáveis, como fatores de risco para alterações no desenvolvimento neuropsicomotor. Resultados: Os lactentes com displasia broncopulmonar apresentaram maior atraso no desenvolvimento neuropsicomotor quando comparados àqueles sem displasia broncopulmonar (p = 0,001). Os fatores associados com maior incidência para alterações no desenvolvimento neuropsicomotor, além da displasia broncopulmonar, foram: esteroide antenatal, sexo, peso ao nascimento, escore de Apgar no quinto minuto, Score for Neonatal Acute Physiology with Perinatal Extension, tempo de oxigenoterapia, ventilação mecânica e internação. Outras variáveis também podem ter influenciado o resultado, como uso de drogas pelas mães dos lactentes com displasia broncopulmonar. Conclusão: A displasia broncopulmonar associada a outros fatores pré e pós-natais pode ser considerada fator de risco para o atraso do desenvolvimento neuropsicomotor em lactentes nascidos prematuramente e com peso inferior a 1.500g, no primeiro ano de vida.
ABSTRACT Objective: To compare the neuropsychomotor development in the first year of life of premature infants with and without bronchopulmonary dysplasia. Methods: A cross-sectional retrospective study was conducted between January 1, 2014, and December 30, 2015, with premature infants weighing < 1,500g at birth and diagnosed with bronchopulmonary dysplasia at the corrected ages of 6 and 9 months, assessed using the DENVER II Developmental Screening Test. Quantitative variables were described as the means, medians and standard deviations. Variables with normal distribution were tested using Student's t test; otherwise, the Mann-Whitney test was used, considering significance at p-value < 0.05. Qualitative variables were expressed as frequencies and percentages. Logistic regression was used with odds ratio analysis to evaluate the effects of other variables as risk factors for changes in neuropsychomotor development. Results: Infants with bronchopulmonary dysplasia showed greater developmental delay compared with those without bronchopulmonary dysplasia (p-value = 0.001). The factors associated with a higher incidence of changes in neuropsychomotor development, in addition to bronchopulmonary dysplasia, were antenatal steroid, gender, birth weight, 5-minute Apgar score, Score for Neonatal Acute Physiology-Perinatal Extension, duration of oxygen therapy, duration of mechanical ventilation and length of hospital stay. Other variables may also have influenced the result, such as drug use by mothers of infants with bronchopulmonary dysplasia. Conclusion: Bronchopulmonary dysplasia associated with other pre- and postnatal factors may be considered a risk factor for delayed neuropsychomotor development in the first year of life in premature infants born weighing less than 1,500g.
Sujets)
Humains , Mâle , Femelle , Grossesse , Nouveau-né , Nourrisson , Adulte , Jeune adulte , Performance psychomotrice/physiologie , Dysplasie bronchopulmonaire/complications , Prématuré , Incapacités de développement/épidémiologie , Oxygénothérapie/statistiques et données numériques , Ventilation artificielle/statistiques et données numériques , Dysplasie bronchopulmonaire/physiopathologie , Études cas-témoins , Modèles logistiques , Incapacités de développement/étiologie , Incidence , Études transversales , Études rétrospectives , Facteurs de risque , Nourrisson très faible poids naissance , Durée du séjourRésumé
Abstract Case Presentation: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity. Clinical Findings: All patients included were male, 6 months to 16 years of age. Mean age at onset of symptoms was 8 months. Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, as compared to the connatal phenotype. All cases had a primary diagnosis of developmental delay on 100%, and in 28.7% of cases, early onset nystagmus was described. 85.7% of patients had spasticity, 71.4% cerebellar signs, 57.0% hypotonia, and 28.5% had an abnormal movement disorder. Only three patients were able to achieve gait, though altered. In the two patients who had a diagnosis of connatal PMD maturational ages in danger zones according to the WHO Abbreviated Scale of Psychosocial Development were documented. All cases had abnormalities in neuroimages. Molecular Analysis and Results: Molecular studies were used in the majority of the cases to confirm the diagnosis (85.7 %). For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested. PLP1 gene dosage alterations (duplications) were found in 28.5 % of the patients (two siblings), whereas three different single nucleotide variants were detected. Clinical Relevance: According to these findings, as authors we propose the diagnostic algorithm in Colombian population to begin on a high clinical suspicion, followed by paraclinical extension, moving on to the molecular confirmation by using approaches to simultaneously sequence the PLP1 gene in order to detect point mutations and in/dels and performing a copy number variation analysis for the detection of gene dosage alterations.
Resumen Descripción del caso: La enfermedad de Pelizaeus Merzbacher es una leucodistrofia ligada al X que causa encefalopatía espástica crónica en la infancia. Su etiología es genética, por duplicaciones u otros trastornos de la dosis génica o mutaciones puntuales del gen PLP1, lo que condiciona la formación anormal de las vainas de mielina principalmente en el sistema nervioso central. Clínicamente se caracteriza por un cuadro de retardo del neurodesarrollo, nistagmus y espasticidad, con neuroimágenes que evidencian la dismielinización. Presentamos una serie de siete casos colombianos con esta leucodistrofica en la que describimos fenotípica y genotípicamente la heterogeneidad de esta enfermedad en nuestra población. Hallazgos clínicos: Todos los pacientes analizados fueron de sexo masculino, con edad promedio de inicio de síntomas hacia los ocho meses de vida. La edad media al diagnóstico fue de 5 años 5 meses, siendo más frecuente el diagnóstico de PMD clásica que el tipo connatal. Se describe retardo del desarrollo motor en el 100% de los casos, acompañado de nistagmus en el 28.7%. 85.7% de los casos tenía algún grado de espasticidad, 71.4 % signos cerebelosos, 57.0% hipotonía, y hasta en 28.5% se evidenciaron movimientos anormales. Solo tres pacientes lograron marcha, aunque patológica. En los dos pacientes con la forma connatal se documentó una edad maduracional motora en el rango de Alerta, de acuerdo a la escala abreviada del desarrollo de la OMS. En todos los casos se detectó algún tipo de anormalidad en el estudio imagenológico cerebral. Estudios Moleculares y Resultados: El diagnóstico molecular se empleó en la mayoría de los casos (85.7%), encontrando alteraciones en la dosis génica en el 28.5% y tres diferentes mutaciones puntuales. Relevancia clínica: Dados los hallazgos en los resultados del estudio molecular, sugerimos que en el abordaje diagnóstico confirmatorio para la población colombiana se debería contemplar en un mismo tiempo tanto la secuenciación como el estudio de variantes del número de copias del gen afectado, contrario a lo sugerido en literatura mundial en la que se inicia con estudio para duplicación / deleción.
Sujets)
Adolescent , Enfant , Enfant d'âge préscolaire , Humains , Nourrisson , Mâle , Incapacités de développement/étiologie , Protéine protéolipidique myéline/génétique , Maladie de Pelizaeus-Merzbacher/diagnostic , Phénotype , Colombie , Maladie de Pelizaeus-Merzbacher/physiopathologie , Maladie de Pelizaeus-Merzbacher/génétique , Variations de nombre de copies de segment d'ADN/génétique , Génotype , MutationRésumé
La anemia en niños menores de tres años es un problema de salud pública en el Perú y el mundo. Se estima que la causa principal de la anemia, aunque no la única, es la deficiencia de hierro. Existen muchos estudios y revisiones sobre cómo esta carencia en los infantes impacta negativamente en el desarrollo psicomotor y, a pesar de corregirse la anemia, los niños con este antecedente presentan, a largo plazo, un menor desempeño en las áreas cognitiva, social y emocional. Estos hallazgos se describen en estudios observacionales, de seguimiento, así como en experimentales con grupo control. La anemia puede disminuir el desempeño escolar, y la productividad en la vida adulta, afectando la calidad de vida, y en general la economía de las personas afectadas. Se describen algunos posibles mecanismos de cómo la deficiencia de hierro, con o sin anemia, podría afectar el desarrollo en la infancia; por ello, causa preocupación la alta prevalencia de anemia que se observa en este grupo de edad. La prevención de la anemia en el primer año de vida debe ser la meta para evitar consecuencias en el desarrollo de la persona a largo plazo.
Anemia in children younger than 3 years is a public health problem in Peru and worldwide. It is believed that one of the primary causes of anemia is iron deficiency. Numerous studies and reviews have reported that iron deficiency limited psychomotor development in children and that, despite the correction of anemia, children with iron deficiency experienced poorer long-term performance in cognitive, social, and emotional functioning. These outcomes were reported in observational studies, follow-up studies, and experimental studies with a control group. Anemia can decrease school performance, productivity in adult life, quality of life, and the general income of affected individuals. Here we describe possible mechanisms underlying the effect of iron deficiency, with or without anemia, on childhood development. The high rate of anemia in this age group is a cause for concern. Moreover, anemia should be prevented in the first year of life to avoid long-term negative effects on individual development.
Sujets)
Enfant d'âge préscolaire , Humains , Nourrisson , Développement de l'enfant , Incapacités de développement/étiologie , Anémie/complications , Anémie/physiopathologie , Pérou , Facteurs tempsRésumé
Abstract: Objective: This study aims to identify the scientific evidence on the risks and effects of exposure to environmental contaminants in children during sensitive developmental periods. Data source: The search was performed in the Bireme database, using the terms: children's health, environmental exposure, health vulnerability, toxicity pathways and developmental disabilities in the LILACS, MEDLINE and SciELO systems. Data synthesis: Children differ from adults in their unique physiological and behavioral characteristics and the potential exposure to risks caused by several threats in the environment. Exposure to toxic agents is analyzed through toxicokinetic processes in the several systems and organs during the sensitive phases of child development. The caused effects are reflected in the increased prevalence of congenital malformations, diarrhea, asthma, cancer, endocrine and neurological disorders, among others, with negative impacts throughout adult life. Conclusion: To identify the causes and understand the mechanisms involved in the genesis of these diseases is a challenge for science, as there is still a lack of knowledge on children's susceptibility to many environmental contaminants. Prevention policies and more research on child environmental health, improving the recording and surveillance of environmental risks to children's health, should be an ongoing priority in the public health field.
Resumo: Objetivo: O presente estudo busca identificar as evidências científicas sobre os riscos e efeitos da exposição de contaminantes ambientais no organismo infantil durante os períodos sensíveis de seu desenvolvimento. Fonte de dados: As pesquisas foram feitas pelo banco de dados da Bireme, com os termos children's health, environmental exposure, health vulnerability, toxicity pathways e developmental disabilities nos sistemas Lilacs, Medline e SciELO. Síntese de dados: A criança difere do adulto por suas características singulares de ordem fisiológica, comportamental e do potencial de exposição a riscos frente às ameaças do ambiente. A exposição a agentes tóxicos é analisada por meio dos processos toxicocinéticos nos sistemas e órgãos durante as janelas sensíveis do desenvolvimento infantil. Os efeitos causados transparecem no aumento da prevalência de malformações congênitas, diarreia, asma, cânceres, distúrbios endócrinos e neurológicos, entre outros, com impactos negativos ao longo da vida adulta. Conclusão: Identificar as causas e compreender os mecanismos envolvidos na gênese desses agravos é um desafio que se impõe à ciência, visto que ainda há uma lacuna de conhecimento sobre a suscetibilidade infantil para muitos contaminantes ambientais. Políticas de prevenção e mais pesquisas em saúde ambiental infantil, que impulsionem o registro e a vigilância epidemiológica dos riscos ambientais à saúde da criança, devem ser uma prioridade contínua no campo da saúde pública.
Sujets)
Humains , Enfant , Incapacités de développement/étiologie , Exposition environnementale/effets indésirables , Polluants environnementaux/toxicité , Incapacités de développement/classification , Incapacités de développement/physiopathologie , Protection de l'enfance , Connaissances, attitudes et pratiques en santé , Santé environnementaleRésumé
RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.
ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.
Sujets)
Humains , Mâle , Enfant , Rétine/malformations , Cervelet/malformations , Incapacités de développement/étiologie , Malformations oculaires/complications , Maladies kystiques rénales/complications , Troubles du langage/étiologie , Rétine/anatomopathologie , Rétine/imagerie diagnostique , Malformations multiples/anatomopathologie , Malformations multiples/imagerie diagnostique , Imagerie par résonance magnétique , Cervelet/anatomopathologie , Cervelet/imagerie diagnostique , Malformations oculaires/anatomopathologie , Malformations oculaires/imagerie diagnostique , Maladies kystiques rénales/anatomopathologie , Maladies kystiques rénales/imagerie diagnostiqueRésumé
Introducción: Existe evidencia respecto a que los niños que nacen prematuros moderados y tardíos (PMT) tendrían mayor riesgo de hospitalización, morbilidad neonatal y deficiencias del desarrollo psicomotor (DSM). Objetivo: Determinar, en PMT, la asociación entre el déficit de DSM, edad gestacional y la morbilidad neonatal. Pacientes y método: Estudio caso control anidado en una cohorte de niños nacidos PMT entre los años 2006 y 2009, en una institución privada de la Región Metropolitana. Los niños fueron evaluados con la Escala de Bayley-III de desarrollo infantil a los 8 o 18 meses de edad corregida, o a los 30 meses de edad cronológica. Retrospectivamente se revisaron los registros neonatales. Se generó un modelo de análisis de asociación multivariado para conocer el efecto de la morbilidad neonatal sobre el desarrollo alcanzado. Resultados: Se estudiaron 130 PMT, 25 casos y 105 controles. El 83,8% fue hospitalizado en el periodo neonatal. Hubo diferencias estadísticamente significativas entre casos y controles solo en relación con la edad materna y la hipoglucemia sintomática (OR cruda 3,5, OR ajustada 8,18); se encontró que las variables que afectan de forma negativa el coeficiente de desarrollo son el género masculino, la gemelaridad y la menor edad gestacional. Conclusiones: La hipoglucemia sintomática es el principal factor de riesgo de déficit del DSM, mientras que la gemelaridad, el género masculino y la edad gestacional influyen en el coeficiente de desarrollo global obtenido. Es fundamental desarrollar estrategias de prevención, pesquisa y manejo precoz de esta alteración metabólica para prevenir dificultades del DSM posteriores.
Introduction: There is evidence that children born moderate-to-late preterm (MLP) have a higher risk of hospitalisation, neonatal morbidity, and developmental delay (DD). Objective: To determine the association between DD, gestational age, and neonatal morbidity in MLP children. Patients and method: A case control study design nested in a cohort of MLP children born between 2006 and 2009 at a private hospital located in the Metropolitan area of Santiago. The children were assessed with the Bayley-III Scales of Infant Development at 8 or 18 months corrected age, or at 30 months of chronological age. Neonatal records were retrospectively reviewed. A multivariate analysis was performed to determine the effect of neonatal morbidity on development. Results: A total of 130 MLP children, 25 cases and 105 controls, were studied. Most of them (83.8%) were hospitalised during the neonatal period. Significant differences between cases and controls regarding maternal age and symptomatic hypoglycaemia were observed (crude OR 3.5, adjusted OR 8.18). It was concluded that the variables that negatively affect the rate of development are male gender, being a twin, and gestational age. Conclusions: Symptomatic hypoglycaemia is the main risk factor for DD, while being a twin, male gender, and gestational age influenced the total development rate obtained. It is essential to develop strategies for prevention, screening, and early management of this metabolic disorder to prevent future DD.
Sujets)
Humains , Mâle , Femelle , Nouveau-né , Nourrisson , Enfant d'âge préscolaire , Adulte , Adulte d'âge moyen , Développement de l'enfant/physiologie , Incapacités de développement/épidémiologie , Hospitalisation/statistiques et données numériques , Maladies du prématuré/épidémiologie , Prématuré , Études cas-témoins , Incapacités de développement/étiologie , Chili , Analyse multifactorielle , Études prospectives , Études rétrospectives , Facteurs de risque , Âge gestationnel , Âge maternel , Hypoglycémie/complicationsRésumé
OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country. .
OBJETIVO: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. MÉTODOS: Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. RESULTADOS: Foram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. CONCLUSÃO: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país. .
Sujets)
Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Nouveau-né , Mâle , Jeune adulte , Retard de diagnostic/statistiques et données numériques , Leucinose/épidémiologie , Dépistage néonatal , Brésil/épidémiologie , Incapacités de développement/étiologie , Diagnostic précoce , Études longitudinales , Leucine/sang , Leucinose/diagnostic , Leucinose/génétique , Études rétrospectivesRésumé
OBJECTIVE: To assess the prevalence of severe external root resorption and its potential risk factors resulting from orthodontic treatment. METHODS: A randomly selected sample was used. It comprised conventional periapical radiographs taken in the same radiology center for maxillary and mandibular incisors before and after active orthodontic treatment of 129 patients, males and females, treated by means of the Standard Edgewise technique. Two examiners measured and defined root resorption according to the index proposed by Levander et al. The degree of external apical root resorption was registered defining resorption in four degrees of severity. To assess intra and inter-rater reproducibility, kappa coefficient was used. Chi-square test was used to assess the relationship between the amount of root resorption and patient's sex, dental arch (maxillary or mandibular), treatment with or without extractions, treatment duration, root apex stage (open or closed), root shape, as well as overjet and overbite at treatment onset. RESULTS: Maxillary central incisors had the highest percentage of severe root resorption, followed by maxillary lateral incisors and mandibular lateral incisors. Out of 959 teeth, 28 (2.9%) presented severe root resorption. The following risk factors were observed: anterior maxillary teeth, overjet greater than or equal to 5 mm at treatment onset, treatment with extractions, prolonged therapy, and degree of apex formation at treatment onset. CONCLUSION: This study showed that care must be taken in orthodontic treatment involving extractions, great retraction of maxillary incisors, prolonged therapy, and/or completely formed apex at orthodontic treatment onset. .
OBJETIVO: avaliar a prevalência de reabsorções radiculares externas severas e identificar prováveis fatores de risco decorrentes do tratamento ortodôntico. MÉTODOS: utilizou-se uma amostra selecionada aleatoriamente, composta de radiografias periapicais de incisivos superiores e inferiores, obtidas no mesmo centro radiológico, de pré- e pós-tratamento ortodôntico ativo, de 129 pacientes, de ambos os sexos, tratados por meio da técnica Edgewise Standard. Dois examinadores mensuraram e definiram a reabsorção radicular de acordo com índice proposto por Levander et al., e o grau de reabsorção foi registrado, definindo a reabsorção em quatro graus de severidade. Para avaliar a reprodutibilidade intra- e interexaminadores, adotou-se o índice de coeficiente kappa ponderado. O teste chi-quadrado (χ2) foi adotado para avaliar a relação entre a quantidade de reabsorção radicular e o sexo dos pacientes, arcada dentária (superior ou inferior), tratamentos com ou sem extrações, duração do tratamento, forma radicular, estágio do ápice radicular (aberto ou fechado), overjet e overbite no início do tratamento. RESULTADOS: os incisivos centrais superiores apresentaram a maior porcentagem de reabsorção radicular severa, seguidos dos incisivos laterais superiores e dos incisivos laterais inferiores. Entre 959 dentes avaliados, 28 (2,9%) apresentaram reabsorção radicular severa. Os fatores de risco relacionados foram: dentes localizados na região anterossuperior, overjet maior ou igual a 5mm ao início do tratamento, tratamentos envolvendo extrações dentárias, tempo prolongado de terapia e formação radicular completa à época do início do tratamento ortodôntico. CONCLUSÃO: o estudo demonstrou que cuidados devem ser tomados em tratamentos ortodônticos envolvendo extrações, com grande retração de incisivos superiores, tratamentos prolongados e/ou ápice radicular completamente formado no início da terapia ortodôntica. .
Sujets)
Humains , Nouveau-né , Nourrisson de poids extrêmement faible à la naissance , Crises épileptiques/complications , Crises épileptiques/épidémiologie , Incapacités de développement/épidémiologie , Incapacités de développement/étiologie , Maladies du système nerveux/épidémiologie , Maladies du système nerveux/étiologie , Pronostic , Études rétrospectives , Facteurs de risque , Facteurs tempsRésumé
Surface treatment of dentin before the bleaching procedure may affect its permeability and influence the bond strength of restorative materials. This study evaluated the influence of surface treatment before the bleaching on shear bond strength (SBT) of restorative materials to intracoronal dentin. Dentin slabs were subjected to surface treatment: no bleaching (control - CON), no surface treatment + bleaching (HP), 37% phosphoric acid + bleaching (PA) and Er:YAG laser + bleaching (L). After the bleaching procedure, specimens (n=10) were restored with: microhybrid composite resin (MH), flowable composite resin (F), and resin-modified glass-ionomer cement (RMGIC). The shear test was carried out. ANOVA and Tukey's test (α=0.05) showed significant difference for surface treatment and restorative materials (p<0.05). CON presented higher STB and was statistically different from HP (p<0.05). PA and L showed intermediate values and were statistically similar to CON and HP (p>0.05). STB for MH and F were higher than RMGIC (p<0.05), and did not differ from each other (p>0.05). The surface treatments with phosphoric acid and Er:YAG laser before the bleaching procedure provided shear bond strength at the same level of unbleached dentin and the composite resins presented superior bond strength to the intracoronal dentin.
O tratamento superficial da dentina previamente ao clareamento pode afetar a sua permeabilidade e influenciar a resistência de união de materiais restaurados. Este estudo avaliou a influência do tratamento superficial antes do clareamento na resistência ao cisalhamento (RC) de materiais restauradores à dentina intracoronária. Fragmentos de dentina foram submetidos ao tratamento de superfície: não clareadas (controle - CON), sem tratamento de superfície + clareamento (HP), ácido fosfórico 37% + clareamento (AF), e laser Er:YAG + clareamento (L). Após o procedimento clareador, os espécimes foram restaurados com (n=10): resina composta micro-híbrida (MH), resina composta fluida (F), e cimento de ionômero de vidro modificado por resina (CIVMR). O teste de cisalhamento foi realizado. ANOVA e teste de Tukey (α=0,05) mostraram diferença significante para tratamento superficial e material restaurador (p<0,05). O grupo controle apresentou maior resistência de união e foi estatisticamente diferente de HP (p<0,05). AF e L mostraram valores intermediários e foram similares ao CON e HP (p>0,05). A resistência de união para MH e F foi maior que CIVMR (p<0,05), e não diferiram entre si (p>0,05). O tratamento da superfície dentinária com ácido fosfórico e laser Er:YAG previamente ao clareamento promoveu resistência de união ao nível da dentina não clareada e a adesão à dentina intracoronária foi superior com as resinas compostas.
Sujets)
Femelle , Humains , Mâle , Syndrome du chromosome X fragile/diagnostic , Aberrations des chromosomes sexuels/diagnostic , Aberrations des chromosomes , Zébrage chromosomique , Incapacités de développement/étiologie , Incapacités de développement/génétique , Syndrome du chromosome X fragile/génétiqueRésumé
Introducción: La deficiencia de vitamina B12 es una de las complicaciones del vegetarianismo y sus variantes. Los lactantes de madres vegetarianas tienen mayor riesgo de deficiencia y son más lábiles a sus efectos. Objetivo: Relatar un caso para alertar sobre la importancia de la sospecha de deficiencia de vitamina B12 en hijos de madres con hábito vegetariano. Caso clínico: Se presenta una lactante de 12 meses, hija de una mujer vegetariana de larga data, que se presenta con compromiso neurológico y hematológico por déficit de vitamina B12. Luego de un corto período de administración de cianocobalamina parenteral y apoyo enteral nutricional, evoluciona con una notoria mejoría clínica y de laboratorio, aunque aún presenta retraso del desarrollo residual. Conclusiones: La deficiencia de vitamina B12 no es frecuentemente sospechada por el pediatra en lactantes sanos. Sus manifestaciones clínicas pueden ser tan inespecíficas, como la apatía, el rechazo alimentario y el deterioro progresivo del desarrollo psicomotor. Una anamnesis nutricional breve realizada a la madre (con mayor énfasis en aquellas vegetarianas) para estimar sus reservas en el periodo previo, durante y después del parto pueden ser fundamentales para detectar el riesgo déficit de esta vitamina en el niño pequeño.
Introduction: Vitamin B12 deficiency is extremely common in strict vegetarians and their variants. Infants of vegetarian mothers have a higher risk of deficiency and are more prone to its effects. Objective: To report a case in order to warn people about the importance of suspected vitamin B12 deficiency in children of vegetarian mothers. Case report: A 12-month old infant, daughter of a longtime vegetarian woman, who presented neurological and hematological compromise due to vitamin B12 deficiency, is discussed. After a short period of parenteral administration of cyanocobalamin and enteral nutrition, the patient evolved with clinical and laboratory improvement, although she still had residual development delay. Conclusions: Vitamin B12 deficiency is often not suspected by the pediatrician in healthy infants. Clinical manifestations can be nonspecific, such as apathy, food refusal and progressive impairment of psychomotor development. A nutritional anamnesis performed on the mother (with great emphasis on those strict vegetarians) to estimate her reserves in the period prior to, during and after delivery can be critical to detect the risk of this vitamin deficiency in young children.
Sujets)
Humains , Adulte , Femelle , Nourrisson , /complications , /étiologie , Régime végétarien/effets indésirables , Anémie mégaloblastique/étiologie , /traitement médicamenteux , Incapacités de développement/étiologie , Nutrition parentérale , /administration et posologieRésumé
Entre las consecuencias generadas por las cardiopatías congénitas se encuentran los trastornos cognitivos. A continuación se exponen los resultados de la intervención neuropsicológica en la paciente (MCGD de 9 años) con trastornos del desarrollo generados por una cardiopatía compleja de origen congénito. La niña presentaba dificultades a nivel de la organización de todas las funciones cerebrales superiores (lenguaje, praxias y gnosias). En vista de los resultados en las pruebas de evaluación, se diseñaron estrategias de intervención neuropsicológica integral y personalizada. Esto permitió en 5 años llevar a la paciente de un estado de escasa funcionalidad social, emocional, física y cognitiva, a otro de multifuncionalidad adecuada en todos los ámbitos...
Among the consequences generated by congenital heart disease are cognitive disorders. Here are the results of neuropsychological intervention in the patient (MCGD 9 years) with developmental disorders generated by a complex congenital heart disease. The child had difficulties at the level of the organization of all higher brain functions (language, praxis and gnosis). In view of the results of the evaluation tests were designed comprehensive neuropsychological intervention strategies and personalized. This allowed over 5 years lead to the patient in a state of poor social functioning, emotional, physical and cognitive multifunctionality to another appropriate in all areas...
Sujets)
Humains , Femelle , Enfant , Cardiopathies congénitales/complications , Incapacités de développement/étiologie , Incapacités de développement/rééducation et réadaptation , NeuropsychologieRésumé
Objective To compare neuromotor development between patients who did and those who did not undergo intrauterine myelomeningocele repair. Methods Children with myelomeningocele aged between 3.5 and 6 years who did undergo intrauterine repair (Group A, n=6) or not (Group B; n=7) were assessed for neuromotor development at both anatomical and functional levels, need for orthoses, and cognitive function. Results Intrauterine myelomeningocele repair significantly improved motor function. The functional level was higher than the anatomical level by 2 or more spinal segments in all children in Group A and 2 children in Group B, with a significant statistical difference between groups (p<0.05). Five children in Group A and one in Group B were community ambulators. Conclusion Despite the small sample, it was observed that an improvement of motor function and decreased need for postnatal shunting in the 6 children who had undergone intrauterine myelomeningocele repair. .
Objetivo Comparar o desenvolvimento neuromotor de pacientes submetidos à cirurgia fetal intrauterina da mielomeningocele ao de pacientes não submetidos ao procedimento. Métodos Foram avaliados: o desenvolvimento neuromotor (descrevendo o nível anatômico e motor funcional), o tipo de marcha, a necessidade de órteses e o nível cognitivo de crianças com mielomeningocele entre 3,5 e 6 anos de idade, submetidas (Grupo A; n=6) ou não submetidas (Grupo B; n=7) à cirurgia fetal intra-uterina. Resultados A função motora apre-sentou melhora significante, com nível funcional mais elevado em dois ou mais segmentos em relação ao nível anatômico em todas as crianças do Grupo A e em duas crianças do Grupo B, com diferença estatística entre os grupos (p<0.05). Cinco crianças do Grupo A e uma do grupo B eram deambuladoras comunitárias. Conclusão Apesar da pequena amostragem, nos 6 casos de cirurgia prenatal observouse melhora da função motora e menor necessidade de shunts pós-natais. .
Sujets)
Enfant , Enfant d'âge préscolaire , Humains , Troubles de la cognition/prévention et contrôle , Incapacités de développement/prévention et contrôle , Foetoscopie , Maladies foetales/chirurgie , Myéloméningocèle/chirurgie , Troubles des habiletés motrices/prévention et contrôle , Troubles de la cognition/étiologie , Troubles de la cognition/rééducation et réadaptation , Évaluation de l'invalidité , Enfants handicapés , Incapacités de développement/étiologie , Incapacités de développement/rééducation et réadaptation , Myéloméningocèle/complications , Troubles des habiletés motrices/étiologie , Troubles des habiletés motrices/rééducation et réadaptation , Diagnostic prénatal , Résultat thérapeutiqueRésumé
Durante el periodo perinatal el cerebro puede quedar privado de oxígeno por dos mecanismos importantes: la hipoxemia y la isquemia. El primero consiste en una disminución de la concentración de oxígeno en sangre y el segundo en la cantidad de sangre que riega al cerebro. Clínicamente se le conoce como encefalopatía hipoxia-isquémica al síndrome caracterizado por la suspensión o grave disminución del intercambio gaseoso a nivel de la placenta o de los pulmones, que resulta en hipoxemia, hipercapnia e hipoxia tisular con acidosis metabólica. Los cambios metabólicos resultantes provocan a corto plazo daño necrótico y a largo plazo daño apoptótico. Las principales lesiones neurológicas que se presentan son la necrosis neuronal selectiva, la lesión cerebral parasagital y la leucomalacia periventricular, provocando secuelas como la parálisis cerebral, epilepsia, problemas en el habla y el lenguaje, auditivos y neuropsicológicos, siendo los procesos, atencionales, mnémicos, y visuoespaciales los más representativos en este rubro. En México se reporta una incidencia de 14.6 por cada 1,000 recién nacidos vivos, con una letalidad del 8.5 por ciento y un índice de secuelas de 3.6 por ciento. A pesar de la gran cantidad de estos estudios sobre secuelas de la hipoxia perinatal aún son pocos los programas a nivel institucional enfocados en el diagnóstico y tratamiento temprano.
During the perinatal period the brain can be deprived of oxygen by two major mechanisms, hypoxemia and ischemia. The first consists in a decrease in blood oxygen concentration and the second in the amount of blood that irrigates the brain. Clinically, it is known as hypoxic-ischemic encephalopathy; a syndrome characterized by severe suspension or decreased gas exchange in the placenta or lungs, resulting in hypoxemia, hypercapnia and tissue hypoxia with metabolic acidosis. A metabolic short-term change causes necrotic damage and long-term change causes apoptotic damage. The main neurological injuries that occur are selective neuronal necrosis, parasagittal brain injury and periventricular leukomalacia, causing sequelae such as cerebral palsy, epilepsy, speech and language disorders, lost hearing and neuropsychological deficits, especially in attentional, mnemonic, and visuospatial proceses. In our country, an incidence of 14.6 per 1,000 live births, with a mortality rate of 8.5 percent and 3.6 sequels index percent are reported. Despite the large number of studies about consequences of perinatal hipoxia are still few institutional level programs focused on early diagnosis and treatment.