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@#Nemaline myopathy (NM) is a primary muscle disorder presenting with proximal muscles weakness at birth or infancy and gross motor delay. This is a case report of a sixteen year old male who presented with proximal muscle weakness at 5 months of age. His gene testing revealed ACTA1 gene mutation, which is associated with nemaline myopathy. He presented with a relatively benign and slowly progressive course of weakness, not complicated by respiratory or cardiac symptoms.
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Abstract The objective of this article is the description and bibliometric analysis of the articles published in the journal Acta Colombiana de Psicología between 2015 and 2019. Their evolution and trends are analyzed to implement strategies that allow their permanent qualification regarding a) scientific quality, b) visibility, c) impact and d) geographic coverage, among others. The database included 127 scientific articles. Descriptive analyzes (frequencies and percentages) were performed and some bibliometric indices were calculated: a) productivity index, b) Lawani and Subramanyam indices and c) Pratt index. These analyzes were carried out using an Excel spreadsheet supplemented with the IBM SPSS version 23 statistical package. The most significant findings allow observing an important number of papers with international authorship (74%), high development of articles in the areas of clinical and health psychology (42.5%) and psychometry (21.3%) and an emphasis on works of a quantitative nature (87%). The journal continues making significant contributions to the development of psychology in Latin America.
Resumen El presente artículo tuvo como objetivo la descripción y el análisis bibliométrico de los artículos publicados en la revista Acta Colombiana de Psicología entre los años 2015 y 2019. Se analizó su evolución y tendencias con el fin de implementar estrategias que permitan la permanente cualificación de la revista, sobre todo en cuanto a calidad científica, visibilidad, impacto y cobertura geográfica. Para esto, se construyó una base de datos con 127 artículos científicos, con los cuales se realizaron análisis descriptivos -frecuencias y porcentajes- y se calcularon algunos índices bibliométricos -como el índice de productividad, los índices de Lawani y Subramanyam, y el índice de Pratt- mediante una planilla en Excel complementada con el paquete estadístico IBM SPSS, versión 23. Los hallazgos más significativos permiten observar un importante número de trabajos con autoría internacional (74 %), un desarrollo elevado de artículos en el área de psicología clínica y de la salud (42.5 %), así como en psicometría (21.3 %), y un énfasis de trabajos de corte cuantitativo (87 %). La revista continúa realizando aportes significativos para el desarrollo de la psicología en Hispanoamérica.
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Objective This study aimed at exploring the causative genes and summarizing the clinical characteristics in two Chinese families with thoracic aortic aneurysm and dissection ( TAAD ) .Methods The whole exome capture and high throughput sequencing were applied to identify the causative gene.Family members were examined for features of syndromic ge-netic diseases by clinician and geneticist.Results Four known TAAD candidate genes were identified in family TAA01:rs140598(FBN1), rs185661462(MYH11), rs77620762(MYLK3), and rs111426349(TGFBR1).The TGFBR1 mutation (c.1459C>T) had been confirmed to co-segregate with the TAAD phenotype in all affected family members.Early onset of aortic root dilatation was significant in this family , and the average age at diagnosis of aortic root dilatation or aneurysm was23. 2 years.ACTA2(c.445C>T) was proved in family TAA02, and livedo reticularis was confirmed.Conclusion The causa-tive genes were identified via whole exome capture and high throughput sequencing in two TAAD families .Early onset of aortic root aneurysm was proved in TAA01, while livedo reticularis was found in TAA02.
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Se presenta una síntesis histórica del origen y evolución de Acta Bioethica (ISSN 0717-5906), destacando los temas abordados en sus primeros diez años y el origen geográfico de los artículos publicados. Indexada en SciELO, Science Citation Index, Latindex y otras bases de datos internacionales, la revista se ha convertido en referencia obligada para los estudiosos. Sus artículos, en inglés, español y portugués, se citan cada vez con mayor frecuencia. El Centro Interdisciplinario de Estudios en Bioética (CIEB) de la Universidad de Chile, que la editó durante la vigencia del consorcio con el Programa de Bioética OPS/OMS, continúa incrementando su presencia en los medios especializados.
A historical account of origin and evolution of Acta Bioethica (ISSN 0717-5906) is presented, emphasizing the topics addressed and the geographical origin of its authors during its first ten years of existence. Indexed in SciELO, Science Citation Index, Latindex and other bibliographic databases, the journal has become standard reference for scholars. Its papers, in English, Spanish and Portuguese, are cited with increasingly higher frequency. The Centro Interdisciplinario de Estudios en Bioética (CIEB), at the University of Chile, which edited it during the time of the consortium with The PAHO/WHO Bioethics Program, continues increasing its presence in specialized circles.
Apresenta-se uma síntese histórica da origem e evolução da Acta Bioethica (ISSN 0717-5906), destacando-se os temas abordados nos seus primeiros dez anos e a origem geográfica dos artigos publicados. Indexada em SciELO, Science Citation Index, Latindex e outras bases de dados internacionais, a revista se tornou uma referência obrigatória para os estudiosos. Seus artigos em inglês, espanhol e português são citados cada vez mais e com maior frequência. O Centro Interdisciplinar de Estudos em Bioética (CIEB) da Universidade do Chile, que a editou durante a vigência do consórcio com o Programa de Bioética OPS/OMS, continua incrementando a sua presença nos meios especializados.
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Bioethics , Periodicals as Topic , ChileABSTRACT
Aim To observe the effect of metformin(MF)on inhibinB,activinA and follistatin in rat of polycystic ovary(PCO),analyzing the possible therapeutic mechanism and therapeutical effect from ovaries local cytokine.Methods The PCO rat models were set by insulin combined with human chorionic gonadotrophin(HCG).The levels of serum gonadal hormone and insulin(INS)were detected by radioimmunoassay.Using the sandwich ELISA technique the expressed level of serum inhibinB(INHB),activinA(ACTA)and follistatin(FS)was detected.Results Metformin could decrease the level of testosterone(T),luteotropic hormone(LH)and INS in rat serum,but it increased the level of ACTA in rat serum and the rate of ACTA/INHB.There was negative correlation between INS and ACTA,and positive correlation between INS and INHB.Conclusion MF can regulate the expression of ovaries local cytokines such as INHB,ACTA and FS.
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AIM To study the antiinflammatory and immunomodulatory effects of actarit(Acta). METHODS To abserve the change of primary and secondary inflammation,immune function on adjuvant arthritis(AA) rats treated with Acta and to detect the effect of Acta on T cell subgroup in mice in vitro. RESULTS Acta(10,30,90 mg?kg -1 ) intragastric injection(ig) did not significantly inhibit primary reaction of AA in rats. But Acta(10,30,90 mg?kg -1 ?11 d) ig signifcantly inhibited secondary reaction (secondary inflammatory swelling、 multiple arthritis) of AA rats. The lowered response of ConA induced splenolytes and the decreased IL 2 synthesis were restored to normal in AA rats treated with Acta, while the elevated IL 1 released from peritoneal macrophate (PM?) was reduced. Acta(1～100 ?mol?L -1 ) could inhibit ConA induced T h cells and enhance ConA induced T s cells culture in vitro . CONCLUSION Acta do not show obvious antiinflammatory action. But Acta has therapeutic action on AA rats, which may be related to its immunomodulatory activities,mainly through modulate cell mediated immunity.