Progress in Biological Functions of NBAS Gene and Related Diseases / 罕见病研究

Neuroblastoma-amplified sequence (NBAS) is a highly conserved gene firstly found in neuroblastoma, targeting on the human chromosome 2 p24.3 and encodes a protein that is a subunit of the Syntaxin 18 complex. The functions of NBAS include the involvement in transport of Golgi-to-Endoplasmic Reticulum retrograde and degradation of nonsense-mediated mRNA. NBAS gene is widely expressed in more than 30 tissues, suggesting that it may play an important role in human body. In 2010 and 2015, NBAS was identified successively as the pathogenic gene of SOPH syndrome and fever-related liver failure respectively. Recent studies shows that NBAS gene mutations can involve immune system and cause immune deficiency. In this paper, we review the biological function of NBAS, NBAS gene mutation-related diseases and their pathogenesis in recent years.

La capacidad de los neonatos de regular sus estados de conciencia y la habituación ¿marcadores tempranos de dificultades en el desarrollo? / Neonatal capacity of regulation of behavioral states and habituation ¿Early markers of neurodevelopment impairment?

Desde la etapa neonatal, la detección temprana de marcadores conductuales de alteraciones sutiles en el neurodesarrollo, es un campo todavía en crecimiento. El objetivo de esta revisión es describir los mecanismos que subyacen a la conducta del neonato durante la aplicación de la subescala de habituación que forma parte de la Neonatal Behavioral Assessment Scale (NBAS), con especial énfasis en la vía visual. Se destacan el papel de la habituación y la regulación de los estados de conciencia como los mecanismos fundamentales durante el primer estímulo y del segundo al décimo estímulo, en dicha escala. Estos procesos representan una capacidad fundamental para la adaptación del recién nacido y se discuten sus posibles implicaciones en el desempeño cognitivo posterior.

Since the neonatal stage, early detection of behavioral markers of subtle impairments in neurodevelopment is a field still under growth. The objective of this review is to describe the mechanisms underlying neonatal behavior during the habituation scale of NBAS, that emphasizes the visual pathway. The role of habituation and the regulation of behavioral states are highlighted during the first stimuli and the second to ten stimuli, during performance of NBAS. Those processes represent a fundamental capacity for newborns´ adaptation and are discussed in line to later cognitive performance.

Hutchinson-Gilford progeria syndrome in two brothers and literature review / 临床儿科杂志

Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc.In both of them,the compound heterozygous mutation of NBAS gene(c.4081C>T,c.5741C>T)were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy.Conclusions It is reported two cases of HGPS caused by NBAS gene mutation.It is rare that two brothers have HGPS.

Propiedades psicométricas de la escala NBAS aplicada a recién nacidos prematuros o con bajo peso / Psychometric properties of the scale NBAS applied to preterm or low birth weight / Propriedades psicométricas da escala aplicada aos recém-nascidos prematuros ou de baixo peso

Objetivo: evaluar algunas características psicométricas de la escala NBAS en una muestra aleatoria de mediciones realizadas con la misma en recién nacidos prematuros y/o con bajo peso, como la validez de constructo y la consistencia interna. Materiales y métodos: se diseñó un estudio de evaluación de propiedades psicométricas. A partir de un estudio de mediciones transversales adelantado en recién nacidos pretérmino o con bajo peso al nacer se realizó valoración del comportamiento individual de los ítems y de su consistencia interna; luego se adelantó análisis factorial de tipo exploratorio y confirmatorio. Resultados: se encuentra que en el análisis de recién nacidos prematuros o con bajo peso la escala mantiene en buena parte la estructura general de factores propuestos desde 1982, en relación con la dimensión de habituación, social interactiva y complementaria. Se integran los ítems que conforman las dimensiones de Sistema Nervioso Autónomo (SNA) y sistema Motor. Se encuentran valores de Alfa de Cronbach que reflejan consistencia interna más o menos alta en la globalidad de los ítems conductuales y de reflejos. Conclusión: la escala NBAS refleja características de validez de constructo y consistencia interna que la acreditan como una herramienta muy útil en la clínica para efectos de valoración del neurodesarrollo de los recién nacidos prematuros o con bajo peso al nacer. Es necesario profundizar en la estructura de la escala cuando se utiliza con propósitos de investigación científica.

Objective: to assess, in a randomized sample of measurements made with the NBAS scale, in preterm and / or low birth weight babies, some psychometric characteristics of the same as her construct validity and internal consistency. Materials and methods: we designed a study of assessment of Psychometric properties. From a study of cross-sectional measurements, there were made assessment of the statistic behavior of the items, individually and in their internal consistency, then, there were carried out, type exploratory and confirmatory factor analysis. Results: we find that, in the analysis of preterm or low birth weight babies, the scale remains largely, the overall structure of factors proposed since 1982, in relation to the dimensions of habituation, social interactive and complementary. The items that make up the dimensions of SNA and motor systems are integrated. Also, we found Cronbach alpha values for internal consistency, which reflects higher to medium correlation levels in the behavioral and reflex items. Conclusion: the NBAS scale reflects characteristics of construct validity and internal consistency, which credits it as a useful tool in clinical assessment of neurodevelopmental effects of preterm or low birth weight babies. It is necessary to analyze the structure of the scale when used for purposes of scientific research.

Objetivo: avaliar algumas características psicométricas da escala NBAS em uma amostra aleatória de medições realizadas em recém-nascidos prematuros e/ou com baixo peso, como a validade de constructo e consistência interna. Materiais e métodos: criou-se um estudo e avaliação de propriedades psicométricas. A partir de um estudo de medições transversais adiantado em recém-nascidos pré-termo ou com baixo peso ao nascer se realizou valoração do comportamento individual dos itens e de sua consistência interna. Logo, adiantou-se a análise fatorial de tipo exploratório e confirmatório. Resultados: se encontra que na análise de recém-nascidos prematuros ou com baixo peso, a escala mantém em grande parte a estrutura geral de fatores propostos desde 1982, em relação com a dimensão de habituação, social interativa e complementária. Integram-se os itens que conformam as dimensões do Sistema Nervoso Autônomo (SNA) e Sistema Motor. Encontram-se valores Alfa de Cronbach que refletem consistência interna mais ou menos alta na globalidade dos itens comportamentais e de reflexos. Conclusão: a escala NBAS reflete caracaterísticas de validade de constructo e consistência interna que a acreditam como uma ferramenta muito útil na clínica para efeitos de valoração do neurodesenvolvimento dos recém-nascidos prematuros ou com baixo peso ao nascer. É necessário aprofundar na estrutura da escala quando se utiliza com propósito de pesquisa científica.

Behavioral Characteristics of Local Korean Neonates by Brazelton's NBAS / 아동간호학회지

This study assessed behavioral characteristics of 73 normal neonates in Daegu area using the NBAS. Being one of few studies on this topic, the study is to document and to accumulate data on the neonatal behaviors of Korean babies. Overall scores were at moderate levels in 6 behavioral clusters including Habituation, Social Interactive, Motor System, State Organization, and State Regulation. Autonomic Stability showed relative stableness. Scores of Orientation were higher in neonates of working mothers and rural mothers. Neonates of mothers with no abortion history have higher scores in Motor System and State Organization. Score of State organization was higher in neonates of mothers with no habitual use of amenity during their pregnancy. Scores of Habituation and State Organization, as well as scores of Motor System with State Organization, State Regulation and Autonomic Stability were positively correlated. Scores of Habituation and State Organization indicate that babies are agreeable and even tameable that is advantageous for attachment to caregiver.