Estudio y construcción de una escala de problemas escolares (EPE)

Construcción de un instrumento que objetivice y dé homogeneidad y normalidad a las valoraciones de maestros en relación a conductas problemáticas y aproximación a la delimitación y configuración de síndromes específicos de conducta. 91 niños (total del alumnado) del Colegio Público La Encarnación de Torrente (Valencia) pertenecientes a los cursos de Preescolar a cuarto de EGB. Este colegio recoge a todos los niños problemáticos (retraso en la escolarización, dificultad en el aprendizaje) que vienen derivados de todos los colegios de Torrente. 120 profesores en activo de distintos colegios de Valencia o su provincia. Tres partes: 1) Estudio de las dimensiones psicológicas del niño problema: a través de una batería de tests. Análisis factorial de los resultados; 2) Estudio sobre la actitud evaluadora de los profesores de EGB: utilizando una escala de conductas perturbadoras y se estableció una correlación entre las puntuaciones obtenidas en ella y los datos recogidos de las estimaciones de los padres en el estudio de Torrente; 3) Estudio sobre la construcción de la escala de problemas escolares y análisis de los resultados obtenidos con su aplicación: se elaboró una escala experimental y se pasó a 68 niños problemáticos y 68 normales, esta escala reflejaba la opinión del maestro respecto a la conducta de los niños. En la primera parte, con los resultados obtenidos por los niños en las pruebas, se llevó a cabo un análisis factorial del que se dedujo que los aspectos cognitivos, psicomotores, de personalidad, socialización, escolarización y constitución familiar son las dimensiones a tener en cuenta para establecer las raíces psicológicas del niño problemático. En la segunda parte la correlación existente entre las opiniones de padres y maestros en relación a la conducta del niño problemático es poco significativa así como la que aparece entre las evaluaciones de los maestros. En la tercera parte, del análisis factorial llevado a cabo con los resultados obtenidos en la escala experimental, se dan, tanto en niños problemáticos como normales 9 factores pero sólo se hace referencia a los 7 primeros (que explican el 48,820 de la varianza en los primeros y el 47,940 en los segundos) pues los tres últimos explican muy poca variabilidad. Hay sensibles diferencias en la caracterización de síndromes de problematismo entre los dos grupos de sujetos. Se cumplen los objetivos previstos. Existe una etiología distinta en cada caso para los comportamientos perturbadores. Existe la limitación de que los datos de la escala hacen referencia a niños varones de ocho años.ValenciaBiblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín, 5 - 3 Planta; 28014 Madrid; Tel. +34917748000; Fax +34917748026; [email protected]

The concentration of apolipoprotein A-I decreases during experimentally induced acute-phase processes in pigs

In this work, apolipoprotein A-I (ApoA-I) was purified from pig sera. The responses of this protein after sterile inflammation and in animals infected with Actinobacillus pleuropneumoniae or Streptococcus suis were investigated. Decreases in the concentrations of ApoA-I, two to five times lower than the initial values, were observed at 2 to 4 days. It is concluded that ApoA-I is a negative acute-phase protein in pigs

Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome

The SCN1A gene encodes the alpha subunit of a voltage-gated sodium channel (Nav1.1), which is essential for the function of inhibitory neurons in the brain. Mutations in this gene cause severe encephalopathies such as Dravet syndrome (DS). Upregulation of SCN1A expression by different approaches has demonstrated promising therapeutic effects in preclinical models of DS. Limiting the effect to inhibitory neurons may contribute to the restoration of brain homeostasis, increasing the safety and efficacy of the treatment. In this work, we have evaluated different approaches to obtain preferential expression of the full SCN1A cDNA (6 Kb) in GABAergic neurons, using high-capacity adenoviral vectors (HC-AdV). In order to favour infection of these cells, we considered ErbB4 as a surface target. Incorporation of the EGF-like domain from neuregulin 1 alpha (NRG1α) in the fiber of adenovirus capsid allowed preferential infection in cells lines expressing ErbB4. However, it had no impact on the infectivity of the vector in primary cultures or in vivo. For transcriptional control of transgene expression, we developed a regulatory sequence (DP3V) based on the Distal-less homolog enhancer (Dlx), the vesicular GABA transporter (VGAT) promoter, and a portion of the SCN1A gene. The hybrid DP3V promoter allowed preferential expression of transgenes in GABAergic neurons both in vitro and in vivo. A new HC-AdV expressing SCN1A under the control of this promoter showed improved survival and amelioration of the epileptic phenotype in a DS mouse model. These results increase the repertoire of gene therapy vectors for the treatment of DS and indicate a new avenue for the refinement of gene supplementation in this disease. KEY MESSAGES: Adenoviral vectors can deliver the SCN1A cDNA and are amenable for targeting. An adenoviral vector displaying an ErbB4 ligand in the capsid does not target GABAergic neurons. A hybrid promoter allows preferential expression of transgenes in GABAergic neurons. Preferential expression of SCN1A in GABAergic cells is therapeutic in a Dravet syndrome model

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder. © 2020 The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society