RESUMO
RESUMEN Introducción: El factor XII o factor de Hageman pertenece al sistema de contacto al ser iniciador de la vía intrínseca de la coagulación. Concentraciones bajas de este factor se asocian a tiempo de tromboplastina parcial activado prolongado, sin embargo, no se producen manifestaciones hemorrágicas como ocurre en la deficiencia de otros factores. Objetivo: Describir las manifestaciones clínicas de un lactante con diagnóstico de deficiencia de factor XII de la coagulación. Presentación del caso: Se presenta un lactante de 10 meses que tuvo aparición espontánea de equimosis y se diagnosticó un déficit de factor XII. Conclusiones: Aunque no es común, la deficiencia del factor XII puede estar asociada a manifestaciones hemorrágicas como equimosis tal como se describe en el presente caso.
ABSTRACT Introduction: Factor XII or Hageman factor belongs to the contact system as it is the initiator of the intrinsic coagulation pathway. Low concentrations of this factor are associated with prolonged activated partial thromboplastin time, however, hemorrhagic manifestations do not occur as occurs in the deficiency of other factors. Objective: Describe the clinical manifestations of an infant diagnosed with coagulation factor XII deficiency. Case presentation: A 10-month-old infant who had spontaneous onset of ecchymosis and a factor XII deficiency was diagnosed. Conclusions: Although not common, factor XII deficiency may be associated with hemorrhagic manifestations such as ecchymosis, as described in the present case.
RESUMO
Basic numerical processing has been regularly assessed using numerical nonsymbolic and symbolic comparison tasks. It has been assumed that these tasks index similar underlying processes. However, the evidence concerning the reliability and convergent validity across different versions of these tasks is inconclusive. We explored the reliability and convergent validity between two numerical comparison tasks (nonsymbolic vs. symbolic) in school-aged children. The relations between performance in both tasks and mental arithmetic were described and a developmental trajectories' analysis was also conducted. The influence of verbal and visuospatial working memory processes and age was controlled for in the analyses. Results show significant reliability (p < .001) between Block 1 and 2 for nonsymbolic task (global adjusted RT (adjRT): r = .78, global efficiency measures (EMs): r = .74) and, for symbolic task (adjRT: r = .86, EMs: r = .86). Also, significant convergent validity between tasks (p < .001) for both adjRT (r = .71) and EMs (r = .70) were found after controlling for working memory and age. Finally, it was found the relationship between nonsymbolic and symbolic efficiencies varies across the sample's age range. Overall, these findings suggest both tasks index the same underlying cognitive architecture and are appropriate to explore the Approximate Number System (ANS) characteristics. The evidence supports the central role of ANS in arithmetic efficiency and suggests there are differences across the age range assessed, concerning the extent to which efficiency in nonsymbolic and symbolic tasks reflects ANS acuity.
Assuntos
Conceitos Matemáticos , Memória de Curto Prazo/fisiologia , Testes Neuropsicológicos/normas , Psicometria/normas , Pensamento/fisiologia , Adolescente , Criança , Chile , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Percepção Espacial/fisiologia , Percepção Visual/fisiologiaRESUMO
Introducción: los niños retrasados mentales presentan un desarrollo anormal de los procesos psíquicos, fundamentalmente los cognitivos superiores, los procesos voluntarios de la memoria, el pensamiento lógico verbal, y el lenguaje entre otros, todos como consecuencia de una lesión orgánica cerebral. Objetivo: para dar curso a la investigación se trazó como objetivo evaluar la aplicación de una intervención educativa con temas relacionados con higiene bucal, prevención y caries dental a niños con el propósito de mejorar el estado de salud bucal de los mismos, dadas por supuesto por sus características especiales. Materiales y métodos: para cumplimentar la investigación se evaluó la efectividad de la intervención propuesta en los niños retrasados mentales de 5 a 12 años de edad que pertenecen a esta área de salud sumando un total de 23 niños. Resultados: de los niños estudiados el mayor porciento eran del sexo masculino y tenían entre 8 y 10 años de edad; antes de la intervención educativa existía un gran numero de niños que tenían una higiene bucal inadecuada, desconocían los factores de riesgo de la caries dental y los métodos sobre prevención en Estomatología; mientras que después de aplicada la intervención mejoraron notablemente en estos aspectos. Conclusiones: según los resultados obtenidos se puede concluir que esta estrategia educativa preventiva permitió dar respuesta a los principales problemas identificados y alcanzar un mayor nivel de salud bucal en los niños con retraso mental en la etapa escolar al prevenir la formación de caries dental en dientes temporales y permanentes, pues al finalizar la intervención los resultados fueron evaluados de buenos (AU).
Introduction: children with mental retardation have an abnormal development of the psychical processes, mainly the superior cognitive ones, the voluntary processes of the memory, the logic verbal thought and language, among others, all of them as the result of a brain organic lesion. Objective: the aim of the research was evaluating the application of an educative intervention with themes related with oral hygiene, prevention and dental caries in children with the purpose of improving their oral health status, given the special characteristics of them. Materials and Methods: it was evaluated the effectiveness of the proposed intervention in children with mental retardation aged 5-12 years who belong to this health area, being 23 children in total. Results: the higher percent of the studied children were male, aged 8 and 10 years; before the educative intervention a great number of children had an inadequate oral hygiene, did not know dental caries risk factors and the preventive methods in Odontology, while after applying the intervention these aspects remarkably improved. Conclusions: according to the obtained results it could be concluded that this educative preventive strategy allowed answering to the main identified problems and reaching a higher level of oral health in children with mental retardation in scholar age, because it prevented the oral caries formation in deciduous and permanent teeth, since at the end of the intervention the achieved results were evaluated as good (AU).
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Humanos , Masculino , Feminino , Pré-Escolar , Criança , Intervenção Educacional Precoce/métodos , Intervenção Educacional Precoce/normas , Crianças com Deficiência/educação , Cárie Dentária , Higiene Bucal/educação , Higiene Bucal/métodos , Saúde Bucal , Fatores de RiscoRESUMO
The association of enumeration and number comparison capacities with arithmetical competence was examined in a large sample of children from 2nd to 9th grades. It was found that efficiency on numerical capacities predicted separately more than 25% of the variance in the individual differences on a timed arithmetical test, and this occurred for both younger and older learners. These capacities were also significant predictors of individual variations in an untimed curriculum-based math achievement test and on the teacher scores of math performance over developmental time. Based on these findings, these numerical capacities were used for estimating the prevalence and gender ratio of basic numerical deficits and developmental dyscalculia (DD) over the grade range defined above (N = 11,652 children). The extent to which DD affects the population with poor ability on calculation was also examined. For this purpose, the prevalence and gender ratio of arithmetical dysfluency (AD) were estimated in the same cohort. The estimated prevalence of DD was 3.4%, and the male:female ratio was 4:1. However, the prevalence of AD was almost 3 times as high (9.35%), and no gender differences were found (male:female ratio = 1.07:1). Basic numerical deficits affect 4.54% of school-age population and affect more boys than girls (2.4:1). The differences between the corresponding estimates were highly significant (α < .01). Based on these contrastive findings, it is concluded that DD, defined as a defective sense of numerosity, could be a distinctive disorder that affects only a portion of children with AD.
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Logro , Discalculia/epidemiologia , Discalculia/fisiopatologia , Matemática , Processos Mentais/fisiologia , Adolescente , Fatores Etários , Criança , Estudos de Coortes , Cuba/epidemiologia , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Testes Neuropsicológicos , Tempo de Reação/fisiologia , Fatores Sexuais , Estatística como AssuntoRESUMO
El síndrome de Coffin-Lowry es una enfermedad genética ligada al cromosoma X, caracterizada por múltiples deformidades esqueléticas, talla baja, retraso en el desarrollo neurológico, además de alteraciones renales, auditivas y otras. Si no se detecta y trata en forma temprana, lleva al paciente a pérdida de la audición neurosensorial y deformidad progresiva de la columna vertebral. Se presenta el caso de un niño de 10 años con los hallazgos clínicos característicos del síndrome de Coffin-Lowry: hipotonía, retardo del crecimiento y del desarrollo psicomotor, y deformidades esqueléticas progresivas. Se resalta la importancia de un diagnóstico precoz para mejorar la calidad de vida del paciente, controlando la pérdida de la audición neurosensorial y la deformidad progresiva de la columna vertebral (escoliosis o cifosis).
The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation. We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and progressive spine deformation. We stress the importance of early diagnosis to improve the quality of life of the patient by controlling neural sensory hearing deficit and progressive spine deformation (scoliosis and/or Kyphosis).
Assuntos
Cromossomo X , Hipotonia Muscular , Síndrome de Coffin-LowryRESUMO
Learning to read is one of the most important cognitive milestones in the human social environment. One of the most accepted models explaining such process is the Double-Route Cascaded Model. It suggests the existence of two reading strategies: lexical and sublexical. In the Spanish language there are some contradictions about how these strategies are applied for reading. In addition, there are only a few studies dealing with the analysis of shifts between them, achieving a fluent reading process. In this paper we use a reading task including words and pseudowords for characterizing the cost of shifting between reading strategies in children with developmental dyslexia and normal controls. Our results suggest the presence of both strategies in these two experimental groups. In controls, both strategies become more efficient in correspondence to the increased exposition to written material. However, in children with developmental dyslexia only the lexical strategy exhibits such improvement. Their also point to a low cost for shifting between strategies in controls and a much more significant one in children with developmental dyslexia, differentiating subgroups with distinct shifting patterns.
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Dislexia/diagnóstico , Idioma , Modelos Educacionais , Leitura , Logro , Criança , Cuba , Dislexia/psicologia , Educação Inclusiva , Feminino , Humanos , Masculino , Fonética , Tempo de Reação , Valores de Referência , Semântica , Aprendizagem Verbal , VocabulárioRESUMO
El síndrome de Zimmermann Laban es un síndrome de muy baja frecuencia en el mundo y no se encontró reportes en la literatura colombiana. Se desea presentar a la comunidad médica debido a la dificultad diagnóstica ya que en Colombia no existen reportes de esta enfermedad y en el mundo es escaso. Su mismo desconocimiento ha retrasado en la parte odontológica su tratamiento y su rehabilitación en general.