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PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported.METHODS: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases. Functional analysis was performed for 2 recurrent variants (c.2679C>G p.Ser893Arg and c.932T>G p.Leu311Trp).RESULTS: Biallelic-truncating variants were detected in 16 patients-10 with Fryns syndrome, 1 with MCAHS1, 2 with Fryns syndrome/MCAHS1, and 3 with neurologic phenotype. There was an increased risk of prenatal or neonatal death within this group (6 deaths were in utero or within 2 months of life; 6 pregnancies were terminated). Incidence of polyhydramnios, congenital anomalies (eg, diaphragmatic hernia), and dysmorphism was significantly increased. Biallelic missense or mixed genotype were reported in the remaining 45 cases-32 showed a neurologic phenotype and 12 had MCAHS1. No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final exon. For all genotypes, there was complete penetrance for developmental delay and near-complete penetrance for seizures and hypotonia in patients surviving the neonatal period.CONCLUSION: We have expanded the described spectrum of phenotypes and natural history associated with biallelic PIGN variants. Our study shows that biallelic-truncating variants usually result in the more severe Fryns syndrome phenotype, but neurologic problems, such as developmental delay, seizures, and hypotonia, present across all genotypes. Functional analysis should be considered when the genotypes do not correlate with the predicted phenotype because there may be other functionally important regions in PIGN that are yet to be discovered.

Proponer un programa de capacitación de Competencias de las TIC del docente para mejorar la gestión de un centro educativo fue el objetivo de esta investigación. Metodológicamente enmarcada en una investigación de campo apoyada en un análisis documental, de carácter no experimental y observacional, el enfoque fue cuantitativo a partir de un estudio exploratorio – descriptivo y su población estuvo conformado por 12 docentes de la institución antes mencionada. Se usó la entrevista como la técnica de recolección de datos. Entre los resultados obtenidos se puede indicar: Los docentes no están capacitados para la implementación de las TIC en los procesos educativos, esto se debe a la falta de conocimiento de los docentes acerca del uso adecuado de programas, aulas virtuales, blog, plataformas educativas y sitios web. En plena era digital los centros educativos, los docentes y los estudiantes no cuentan con las herramientas tecnológicas básicas, debido a que, en muchos casos, existe la falta de recursos económicos. Se propone un programa de capacitación en competencias TIC que aminore el efecto de los aspectos desfavorables.

OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment.

Educar en valor es un desafío ético que la sociedad tiene para promover los derechos humanos universales. En este contexto, tanto la filosofía, la ciencia y la pedagogía han contribuido a desarrollar metodologías que contribuyan en la formación moral de la ciudadanía. Algunas de ellas siguen una vía intelectual o directa sobre el tema, las cuales se enfocan en la conciencia y comprensión de los valores. Otras metodologías siguen una vía indirecta o emocional, la cual se enfoca en la experiencia y concreción del valor. Esta última vía ha sido fundamentada por el filósofo danés Søren Kierkegaard, quien establece que la comunicación ética ha de ser, principalmente, una comunicación basada en la experiencia. Aquel argumento filosófico realza la importancia de las actividades prácticas para la educación moral, de modo que se concluye que el deporte es un medio propicio para tal finalidad pedagógica. Abstract: Value education is an ethical challenge for society to promote universal human rights. In this context, philosophy, science and pedagogy have all contributed to the development of methodologies that contribute to the moral formation of citizens. Some of them follow an intellectual or direct approach to the subject, which focuses on the awareness and understanding of values. Other methodologies follow an indirect or emotional route, which focuses on the experience and concreteness of the value. The latter way has been substantiated by the Danish philosopher Søren Kierkegaard, who states that ethical communication has to be primarily a communication based on experience. This philosophical argument emphasises the importance of practical activities for moral education, which leads to the conclusion that sport is a suitable medium for this pedagogical purpose.

Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent research studies focused on genetic diagnosis in patients with CP of unknown etiology. The present study was carried out in 20 families with one family member affected with idiopathic CP. Chromosomal microarray and exome sequencing techniques were performed in all patients. Chromosomal microarray analysis did not show any pathological or probable pathological structural variant. However, the next-generation sequencing study showed a high diagnostic yield. We report 11/20 patients (55%) with different pathogenic or potentially pathogenic variants detected by exome sequencing analysis: five patients with mutations in genes related to hereditary spastic paraplegia, two with mutations in genes related to Aicardi-Goutières syndrome, three with mutations in genes related to developmental/epileptic encephalopathies, and one with a mutation in the PGK1 gene. The accurate and precise patients' selection, the use of a high-throughput genetic platform, the selection of adequate target genes, and the application of rigorous criteria for the clinical interpretation are the most important elements for a good diagnostic performance. Based on our findings, next-generation sequencing should be considered in patients with cryptogenic CP as the first line of genetic workup. IMPACT: Sequencing techniques in CP of uncertain etiology provides a diagnostic yield of 55%. The appropriate selection of cases optimizes the diagnostic yield. NGS facilitate better understanding of new phenotypes of certain genetic diseases.

Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassing EXT1 and RAD21 genes but not TRPS1. Clinical findings in this patient are correlated with a mixed phenotype of LGS and CdLS type 4.

Resumen Las principales teorías del aprendizaje constructivista reconocen la dimensión emocional como un componente esencial del acto educativo, ya que es uno de los elementos mediadores en la interpretación y significación de la realidad. Esta perspectiva ha impactado en todas las disciplinas del currículo y en específico en la educación física, que es una asignatura bastante especial, ya que exige a los educandos involucrarse en la totalidad de sus dimensiones, en donde además la exposición social suele ser una situación muy común. Ante este escenario, se han analizado elementos de los currículos español y chileno, con la finalidad de describir la incorporación y sistematización de las emociones, entendiendo que esta medida es fundamental para garantizar una educación integral. A partir de este análisis, se puede indicar que la legislación educativa española ha sistematizado diferentes competencias que incluyen aquella dimensión, mientras que la legislación chilena ha incorporado objetivos actitudinales que asocian la dimensión afectiva, pero no se aprecia una programación rigurosa. Por lo tanto, se concluye que existe una necesidad de abrir un debate en torno a la educación integral en Chile. Abstract The main theories of constructivist learning recognize the emotional dimension as an essential component of the educational act, since it is one of the mediating elements in the interpretation and meaning of reality. This perspective has impacted all the disciplines of the curriculum and specifically that of Physical Education, which is a very special subject, since it requires learners to be involved in all its dimensions, where in addition the social exposure is usually a very common situation. Given this scenario, elements of the Spanish and Chilean curriculums have been analyzed, with the aim of describing the incorporation and systematization of emotions, understanding that this measure is fundamental to guarantee a comprehensive education. From this analysis, it can be said that the Spanish educational legislation has systematized different competences that include that dimension, while the Chilean legislation has incorporated attitudinal objectives that include the affective dimension, but no rigorous programming is appreciated. Therefore, it is concluded that there is a need to open a debate on integral education in Chile. Résumé Les principales théories de l'apprentissage constructiviste reconnaissent la dimension émotionnelle comme une composante essentielle de l'acte éducatif, car c'est l'un des éléments médiateurs de l'interprétation et du sens de la réalité. Cette perspective a eu un impact sur toutes les disciplines du programme d'études et en particulier celle de l'éducation physique, qui est une matière très spéciale, car elle exige que les apprenants soient impliqués dans toutes ses dimensions, oú l'exposition sociale est en outre une situation très courante. Dans ce scénario, des éléments du programme d'études espagnol et chilien ont été analysés, dans le but de décrire l'incorporation et la systématisation des émotions, sachant que cette mesure est fondamentale pour garantir une éducation complète. Il ressort de cette analyse que la législation éducative espagnole a systématisé différentes compétences englobant cette dimension, tandis que la législation chilienne a incorporé des objectifs comportementaux associant la dimension affective, mais aucune programmation rigoureuse n'est appréciée. Par conséquent, il est conclu qu'il est nécessaire d'ouvrir un débat sur l'éducation intégrale au Chili. Resumo As principais teorias da aprendizagem construtivista reconhecem a dimensão emocional como um componente essencial do ato educativo, já que é um dos elementos mediadores na interpretação e significação da realidade. Esta perspectiva tem impactado em todas as disciplinas do currículo, e em específico na educação física, que é uma matéria bastante especial, já que exige aos educandos envolver-se na totalidade de suas dimensões, em onde ademais a exposição social costuma ser uma situação muito comum. Ante este cenário, têm-se analisado elementos dos currículos espanhol e chileno, com a finalidade de descrever a incorporação e sistematização das emoções, entendendo que esta medida é fundamental para garantir uma educação integral. A partir desta análise, pode-se indicar que a legislação educativa espanhola tem sistematizado diferentes competências que incluem aquela dimensão, enquanto a legislação chilena tem incorporado objetivos atitudinais que associam a dimensão afetiva, mas não se aprecia uma programação rigorosa. Por conseguinte, conclui-se que existe uma necessidade de abrir um debate em torno da educação integral no Chile.

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive webbased survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features., We are grateful for the assistance of Pepijn Cox in setting up the website www.arid1bgene.com. This study has made use of data generated by the Human Disease Genes website series, www.humandiseasegenes.com. This work was financially supported by grants from the Netherlands Organisation for Health Research and Development (917-86-319 to B.B.A.d.V., 912-12-109 to B.B.A.d.V.)

This essay responds to a critical analysis of emotional education, considering that emotions in education are being addressed from a therapeutic perspective based on the hedonistic tradition of psychology, which does not correspond to a pedagogical knowledge, especially when the philosophical foundations of education are not considered. Taking into account this criticism, this essay is generated which aims to analyze the moral value of emotions. It is identified that the same emotion can have a positive or negative value in relation to the meaning of the educational goal. It is concluded that it is not possible to standardize the pedagogical-moral value of emotions since it responds to a qualitative analysis of the pedagogical situation. El presente ensayo responde a un análisis crítico de la educación emocional. Considera que las emociones en la educación formal se están abordando desde una perspectiva terapéutica, fundamentada en la tradición hedonista de la psicología, lo cual no corresponde a un conocimiento pedagógico, más aún cuando no se consideran los fundamentos filosóficos de la educación. Tomando en cuenta esa crítica, se genera este ensayo que tiene por finalidad analizar el valor moral de las emociones. Se identifica que una misma emoción puede tener un valor positivo o negativo en relación con el significado de la meta educativa. Se concluye que no es posible estandarizar el valor pedagógico-moral de las emociones, ya que responden a un análisis cualitativo de la situación pedagógica.

Resumen La vocación docente es un contenido del currículo oculto, ya que al momento de decidir la profesión de pedagogía, este componente construido desde la subjetividad no participa formalmente del proceso de la toma de decisión; no obstante, esta situación no le resta importancia, pues el deseo por el cual una persona decide ser educador tiene un importante significado para el futuro profesional docente. Este estudio tiene como propósito categorizar los deseos que influyeron en la elección de la carrera de Pedagogía de Educación Física en la Universidad de Playa Ancha, Valparaíso, Chile. La investigación responde al enfoque cualitativo y sus participantes, veinte estudiantes (12 hombres y 8 mujeres), quienes cursan el tercer semestre académico. Los datos fueron recopilados por medio de la técnica del cuestionario no estructurado y el grupo focal, estos dieron paso al análisis de los datos mediante la teoría fundamentada y se utilizó como soporte de la información el programa Atlas.ti 7.5. Los resultados presentan cuatro familias: a) Formación personal del alumnado, b) influir en la comunidad, c) mejorar factores de riesgo social, y d) satisfacción personal. Se concluye que el estudiantado al momento de decidir su profesión, deseó ser actor social con poder de transformación social, ocupando los espacios educativos institucionales, como los espacios educativos comunitarios, con un gran énfasis en contrarrestar las problemáticas de salud que han vivenciado y/o identificado por medio de la historia de vida personal. Se recomienda que el personal docente universitario integre los deseos vocacionales del alumnado en su formación. Abstract Teaching as a vocation pertains to the hidden curriculum. When one decides to enter teaching, this considered to be a more subjective component since it does not formally influence our decision to become teachers and should not be deemed as less important for that reason. The reasons why someone decides to become a teacher is very important for the future of that person’s career. The objective of this study is to classify the different aspirations among the students participating in the study, that influenced their decision to become Physical Educations teachers and major in that field at the University of Playa Ancha in Valparaíso, Chile. The study focused on qualitative aspect of twenty students (12 males and 8 females) currently attending classes during the third semester of the academic school year. The data was gathered using a non-structured questionnaire and a focus group and later analyzed through a Grounded Theory approach. Atlas.ti 75 software was used. The results presented four classifications: a) the students’ personal background, b) influence on the community, c) improvement of social risk factors and d) personal satisfaction. It can be concluded that when students decide to major in this field, they wished to be a social stakeholder with the power of social transformation, occupying positions at educational institutions, such as community educational areas and a great emphasis to counteract healthcare problems experienced or identified though their staff. It is recommended that university faculty include the vocational aspirations of the students as part of their training.

Contains fulltext : 202800.pdf (Publisher’s version ) (Open Access) SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.

Development of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor oocyte with respect to those patients conceived by natural fertilization (p = 0.0001). On the other hand, no significant excess of pathogenic copy number variants was observed among patients born by autologous oocyte in vitro fertilization. Further studies are necessary to confirm these results and in order to identify the factors that may contribute to an increased risk of genomic rearrangements, as well as consider the screening for genomic alterations after oocyte donation in prenatal diagnosis.

International audience; Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional repression. Among the two vertebrate paralogs encoding the Sin3 complex, SIN3A variants cause syndromic intellectual disability, but the clinical consequences of SIN3B haploinsufficiency in humans are uncharacterized. Here, we describe a syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant autism spectrum disorder, congenital malformations, corpus callosum defects, and impaired growth caused by disruptive SIN3B variants. Using chromosomal microarray or exome sequencing, and through international data sharing efforts, we identified nine individuals with heterozygous SIN3B deletion or single-nucleotide variants. Five individuals harbor heterozygous deletions encompassing SIN3B that reside within a $230 kb minimal region of overlap on 19p13.11, two individuals have a rare nonsynonymous substitution, and two individuals have a single-nucleotide deletion that results in a frameshift and predicted premature termination codon. To test the relevance of SIN3B impairment to measurable aspects of the human phenotype, we disrupted the orthologous zebrafish locus by genome editing and transient suppression. The mutant and morphant larvae display altered craniofacial patterning, commissural axon defects, and reduced body length supportive of an essential role for Sin3 function in growth and patterning of anterior structures. To investigate further the molecular consequences of SIN3B variants, we quantified genome-wide enhancer and promoter activity states by using H3K27ac ChIP-seq. We show that, similar to SIN3A mutations, SIN3B disruption causes hyperacetylation of a subset of enhancers and promoters in peripheral blood mononuclear cells. Together, these data demonstrate that SIN3B haploinsufficiency leads to a hitherto unknown intellectual disability/autism syndrome, uncover a crucial role of SIN3B in the central nervous system, and define the epigenetic landscape associated with Sin3 complex impairment.

El estudio de las emociones en educación física es cada vez más común. Sin embargo, las emociones del alumnado han gozado de más protagonismo en la literatura, en comparación con las del profesorado. El estudio de las emociones del profesorado se divide en dos enfoques principales, uno orientado a la intensidad y otro a la calidad emocional. Con la finalidad de contribuir a la comprensión de la calidad emocional, se ha decidido realizar una revisión narrativa que tuvo por objetivo analizar los significados de las emociones del profesorado de educación física. La búsqueda se llevó a cabo en siete bases de datos internacionales y se lograron identificar siete investigaciones cualitativas sobre la temática. Los resultados indican que las emociones del profesorado responden al saber docente, los valores, el desempeño laboral, la experiencia personal y profesional. Se concluye que las emociones del profesorado expresan la complejidad de la labor docente y sus posicionamientos éticos frente a diversas situaciones pedagógicas. Abstract. The study of emotions in physical education is increasingly common. However, the emotions of the students have enjoyed more prominence in the literature, compared to those of the teachers. The study of teachers' emotions is divided into two main approaches, one focused on intensity and the other on emotional quality. With the intention of contributing to the understanding of emotional quality, it has been decided to carry out a narrative review that aimed to analyze the meanings of the emotions of physical education teachers. The search was carried out in seven international databases and it was possible to identify seven qualitative investigations on the subject. The results indicate that teachers' emotions respond to teaching knowledge, values, work performance, personal and professional experience. It is concluded that the teachers' emotions express the complexity of the teaching work and their ethical positions in the face of diverse pedagogical situations.

La actividad filosófica se dirige principalmente al mundo de las ideas, o sea, trata sobre el pensamiento y la meditación de los temas más profundos de la existencia humana y no humana. Por otra parte, la actividad pedagógica se dirige principalmente a fines más prácticos, aunque no menos importantes, y aprovecha los saberes desvelados por los diferentes referentes de la filosofía. No obstante, se ha señalado que por diferentes motivos la educación se ha alejado mucho del mundo más profundo de las ideas, lo cual puede derivar en una actividad pedagógica muy superficial. Con este ensayo se pretende acercar la filosofía a la educación y, en concreto, a la educación física. En primer lugar, se tuvo como objetivo analizar el significado de amor que proponen dos filósofos asociados a la escuela fenomenológica, Max Scheler y José Ortega y Gasset. Posteriormente, aquel significado se asoció a la formación ética en la educación física escolar. El análisis refleja que ambos coinciden en que el amor es un sentimiento objetivo y un acto intencional dirigido a conservar adecuadamente lo que es valorado positivamente. También reconocen que el amor es anterior a las emociones, los pensamientos y los deseos, así como que su dirección va desde lo superior a lo inferior. Este conocimiento puede ser aplicado en la educación física de diferentes formas, destacando la conciencia sobre la relación de las emociones con los valores éticos, como la solidaridad, el respeto a los derechos humanos, la tolerancia y la humildad. Abstract: Philosophical activity is directed primarily to the world of ideas, that is, it deals with thoughts and meditation on the deepest themes of human and non-human existence. On the other hand, the pedagogical activity is mainly directed to more practical purposes, although not less important, and takes advantage of the knowledge revealed by the different referents of philosophy. However, it has been pointed out that for different reasons education has strayed far from the deeper world of ideas, which can lead to very superficial pedagogical activity. This essay aims to bring philosophy closer to education and, specifically, to physical education. First, the objective was to analyze the meaning of love proposed by two philosophers associated with the phenomenological school, Max Scheler and José Ortega y Gasset. Later, that meaning was associated with ethical training in school physical education. The analysis reflects that both agree that love is an objective feeling and an intentional act aimed at adequately preserving what is positively valued. They also recognize that love precedes emotions, thoughts, and desires, as well as its direction goes from the top to the bottom. This knowledge can be applied in physical education in different ways, highlighting awareness on the relationship between emotions and ethical values, such as solidarity, respect for human rights, tolerance, and humility.

En la educación formal, la retórica de los valores morales es muy común; sin embargo, suele prescindir de un profundo análisis de sus significados. Este ensayo tiene por objetivo analizar el valor de la humildad y su posible contribución al proceso pedagógico; en concreto, desde la perspectiva de los intelectuales Max Scheler y Paulo Freire. De esta forma, se ha reconocido que ambos filósofos asocian la humildad al acto de amar y, a su vez, al aceptar los aspectos valiosos que trascienden a la propia persona. Es decir, una antítesis del orgullo del ser moral y de la arrogancia intelectual. En este sentido, dicha virtud propiciaría un entorno pedagógico coherente con el diálogo democrático.

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalized genetic counselling.

The philosophy of human rights contains the contribution of different traditions of thought that have contributed to the moral progress of humanity. And among them is the Christian tradition, which contributed to the concept ofpersonand its inherent universal dignity. However, there are thinkers who deny the moral potential of this perspective, so this essay will address the thinking of one of them. So, the objective of this essay is to contrast the axiological ideas of the philosopher Friedrich Nietzsche with the essence of Christian morality and its contribution to human rightseducation. Thus, it is discovered that it is not true that the Christian moral sense is aimed at weakening or making people sick, but that it is oriented towards their moral strengthening. Precisely, this is done in order for them to overcome the vital or physiological limitations that make it difficult to sacrifice subjective well-being for an objective well-being at the individual and collective levels. Otherwise, if nature is not transcended, it is not possible to aspire to spiritual ends, such as universal fraternity. Consequently, it is recognized that it is fundamental to foster an inalienable philosophical attitude towards human rights in pedagogical contexts. La filosofía de los derechos humanos contiene la aportación de diferentes tradiciones de pensamiento que han influido en el progreso moral de la humanidad y entre ellas está la tradición cristiana, que contribuyó al concepto depersonay su inherente dignidad universal. No obstante, existen pensadores que niegan el potencial moral de dicha perspectiva, de modo que en este ensayo se abordará el pensamiento de una de ellas. Entonces, el objetivo del presente documento es contrastar las ideas axiológicas del filósofo Friedrich Nietzsche con la esencia de la moral cristiana y su contribución a la educación de los derechos humanos. Así, se descubre que no es cierto que el sentido moral cristiano se oriente a debilitar o enfermar a las personas, sino que enfoca a su fortalecimiento moral. Precisamente, se hace con la finalidad de que puedan vencer las limitaciones vitales o fisiológicas que dificultan sacrificar el bienestar subjetivo por uno objetivo en el nivel individual y colectivo. De lo contrario, si no se trasciende la naturaleza, no es posible aspirar a fines espirituales como la fraternidad universal. En consecuencia, se reconoce que es fundamental potenciar, en los contextos pedagógicos, una inalienable actitud filosófica frente a los derechos humanos.

Este estudio tuvo por objetivo comprender la dinamica de la vocacion, en el transcurso de la experiencia laboral de los docentes de educacion fisica que se desempenan en el sistema educativo escolar. La metodologia utilizada corresponde al enfoque cualitativo y la participacion consta de nueve docentes hombres, con edades comprendidas entre los 34 y los 62 anos. El promedio de experiencia docente de los participantes es de 24 anos. Los datos fueron recopilados a traves de entrevistas semi-estructuradas y sometidos a un analisis de contenido deductivo-inductivo. En los resultados se presentan las siguientes familias de codigos: a) representacion de la vocacion docente; b) vocacion por la educacion fisica; c) factores que incentivan la vocacion docente; d) factores que perjudican la vocacion docente. Se concluye que la vocacion docente tiene un significativo componente afectivo, que ha estimulado a los docentes a desarrollar un compromiso social durante su labor educativa. Self-perception of the vocation in school physical education teachers in Chile Abstract The purpose of this study was to understand the dynamics of the vocation, in the course of the work experience of physical education teachers who work in the school education system. The methodology used corresponds to the qualitative approach and the participation consists of nine male teachers, aged between 34 and 62 years. The average teaching experience of the participants is 24 years. The data was collected through semi-structured interviews and subjected to an analysis of deductive-inductive content. The following families of codes are presented in the results: a) representation of the teaching vocation; b) vocation for physical education; c) factors that encourage the teaching vocation; d) factors that harm the teaching vocation. It is concluded that the teaching vocation has a significant affective component, which has stimulated teachers to develop a social commitment during their educational work. Recibido: 29 de abril de 2018 Aceptado: 05 de julio de 2018

The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain a global estimate of the number of cases. A total of 3274 cases from 49 Spanish provinces were reported by 39 centres. Excluding duplicated and unsolved cases, 2761 patients harbouring pathogenic mutations in 140 genes were recruited between 1990 and 2020. A total of 508 patients exhibited mutations in nuclear DNA genes (75% paediatric patients) and 1105 in mitochondrial DNA genes (33% paediatric patients). A further 1148 cases harboured mutations in the MT-RNR1 gene (56% paediatric patients). The number of reported cases secondary to nuclear DNA mutations increased in 2014, owing to the implementation of next-generation sequencing technologies. Between 2014 and 2020, excepting MT-RNR1 cases, the incidence was 6.34 (95% CI: 5.71–6.97) cases per million inhabitants at the paediatric age and 1.36 (95% CI: 1.22–1.50) for adults. In conclusion, this is the first study to report nationwide epidemiological data for MD in Spain. The lack of identification of a remarkable number of mitochondrial genes necessitates the systematic application of high-throughput technologies in the routine diagnosis of MD.

espanolSe ha realizado un estudio para identificar la percepcion y atribucion emocional de los estudiantes de Pedagogia en Educacion Fisica durante su practica educativa. La metodologia responde al enfoque cualitativo. Los participantes son 22 estudiantes que cursan su tercer ano academico. Los datos fueron recopilados a traves de un diario personal y fueron sometidos a un analisis inductivo de contenido, utilizando el programa Atlas.ti 7.5. Los resultados manifiestan que los participantes perciben mayoritariamente emociones positivas para su bienestar subjetivo, mientras que de las atribuciones emergieron dos categorias centrales, nombradas interaccion social y rol pedagogico. Se concluye que las emociones emergen principalmente por el deseo de querer lograr una adecuada practica pedagogica, el afecto recibido y la contribucion en el aprendizaje del alumnado escolar . portuguesUm estudo foi realizado para identificar a percepcao e atribuicao emocional dos alunos de Pedagogia em Educacao Fisica durante sua pratica educativa. A metodologia responde a abordagem qualitativa. Os participantes sao 22 estudantes que estao em seu terceiro ano academico. Os dados foram coletados atraves de um diario pessoal e submetidos a uma analise de conteudo indutivo, utilizando o programa Atlas.ti 7.5. Os resultados indicam que os participantes percebem principalmente emocoes positivas para o seu bem-estar subjetivo, enquanto as atribuicoes emergiram duas categorias centrais, denominadas interacao social e papel pedagogico. Conclui-se que as emocoes emergem principalmente devido ao desejo de alcancar uma pratica pedagogica adequada, o afeto recebido e a contribuicao na aprendizagem dos escolares. EnglishA study has been carried out to identify the perception and emotional attribution of the students of Pedagogy in Physical Education during their educational practice. The methodology responds to the qualitative approach. The participants are 22 students who are in their third academic year. The data was collected through a personal diary and subjected to an inductive content analysis, using the Atlas.ti 7.5 program. The results indicate that the participants mostly perceive positive emotions for their subjective wellbeing, while the attributions emerged two central categories, named social interaction and pedagogical role. It is concluded that emotions emerge mainly due to the desire to achieve an adequate pedagogical practice, the affection received and the contribution in the learning of schoolchildren.

A pesar de la importancia de la formación moral de las personas, suele ser una materia profundizada poco desde la perspectiva filosófica en el ámbito pedagógico. No obstante, suele ser regularmente mencionada para justificar acciones pedagógicas. En ese contexto, es que se ha considerado oportuno analizar la aprehensión de valores morales desde una perspectiva objetiva, y en concreto, de la que fundamentan dos importantes filósofos alemanes contemporáneos. A partir de este análisis, se explicará cómo los valores que existen independientes de la consciencia, se relacionan esencialmente con las disposiciones de ánimo y con la voluntad de cada persona. Relación que determinará la posibilidad o la impotencia de cada sujeto para apropiarse de los valores morales positivos.

espanolUna pareja homosexual basada en la Opinion Consultiva OC-24/17, busca contraer matrimonio civil. La peticion es negada en virtud de varias razones, por lo que se interpone una accion de proteccion. En primera instancia se acepta la demanda, mientras que en el superior se declara sin lugar a la misma. Es aqui que se debe considerar si se vulnera o no el derecho a la igualdad y no discriminacion y no unicamente de los peticionarios, sino, en general, de las personas con una distinta orientacion sexual, categoria protegida por la actual Constitucion ecuatoriana, ademas de determinar si el mencionado instrumento internacional forma parte del bloque de constitucionalidad, ya que de ser afirmativo seria parte del ordenamiento vigente y, por lo tanto, de obligatorio cumplimiento.Adicionalmente, se realiza un analisis si en realidad se esta cumpliendo el principio de igualdad y no discriminacion en razon de la orientacion sexual. EnglishA homosexual couple based on Advisory Opinion OC-24/17, want to celebrate between them civil marriage. Petition denied due to several reasons, as such, they present a protection action. In first instance the demand is accepted, while the superior judge not accept the petition. This is where we must consider whether or not the right to equality and non-discrimination is violated and not only of the petitioners but in general to people with a different sexual orientation, a category protected by the current Ecuadorian Constitution. In addition to determining if the aforementioned international instrument is part of the constitutionality block since, if it were affirmative, it would be part of the current legislation and, therefore, of mandatory compliance.Doing an analysis if in reality the right of equality and non discrimination is being fullfilled in reason of sexual orientation.

Familial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking. A neurophysiological study delivered the diagnosis of axonal sensorimotor polyneuropathy. He later developed cardiac symptoms and diarrhea. Urine laboratory analyses revealed a monoclonal spike of light chains (kappa). Biopsies of abdominal fat and bone marrow yielded normal results. The genetic study was compatible with a heterozygous Val30Met-transthyretin mutation. Very few case studies have described an association between familial amyloidotic polyneuropathy and monoclonal gammopathy. We stress that genetic confirmation is important regardless of the type of amyloid deposition revealed by the biopsy.

International audience; Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies. FBXO11 encodes a member of the F-Box protein family, constituting a subunit of an E3-ubiquitin ligase complex. This complex is involved in ubiquitination and proteasomal degradation and thus in controlling critical biological processes by regulating protein turnover. The identified de novo aberrations comprise two large deletions, ten likely gene disrupting variants, and eight missense variants distributed throughout FBXO11. Structural modeling for missense variants located in the CASH or the Zinc-finger UBR domains suggests destabilization of the protein. This, in combination with the observed spectrum and localization of identified variants and the lack of apparent genotype-phenotype correlations, is compatible with loss of function or haploinsufficiency as an underlying mechanism. We implicate de novo missense and likely gene disrupting variants in FBXO11 in a neurodevelopmental disorder with variable intellectual disability and various other features.

Introduction: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of MAGEL2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS. Case Presentation: The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. Conclusions: The clinical and molecular similarities between SYS and PWS suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with SYS.

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.

The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein. CK syndrome is an allelic X-linked recessive disorder. So far, 13 patients with CK syndrome from two families have been reported on. We present a new five-generation family with affected males manifesting clinical features of CK syndrome. Next generation sequencing was targeted to a custom panel of 542 genes with known or putative implication on intellectual disability. Missense mutation p.Gly152Asp was identified in the NSDHL gene in the DNA sample of the affected male. Mutation carrier status was confirmed for all the obligate carriers in the family. The clinical features of the affected males in the family manifested as weak fetal movements, severe intellectual disability, seizures, spasticity, atrophy of optic discs, microcephaly, plagiocephaly, skeletal abnormalities, and minor facial anomalies, including a high nasal bridge, strabismus, and micrognathia. A highly significant preferential transmission of the mutation was observed in this and previous families segregating CK syndrome. Our report expands the clinical spectrum of this syndrome to include weak fetal movements, spasticity, and plagiocephaly, and transmission ratio distortion. The various findings in these patients increase our understanding of the diversity of the clinical presentation of cholesterol biosynthesis disorders.

Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.

Resumen basado en el de la publicación Título, resumen y palabras clave disponibles en español y en inglés Se analizan las investigaciones sobre las emociones en el contexto de la clase de Educación Física publicadas en las bases de datos de libre acceso desde el año 2010 en adelante. Las bases de datos consultadas fueron Google Académico, REDALYC, REDIB, Dialnet, SciELO y DOAJ. Entre los criterios de inclusión se primó que fuesen documentos originales y que estuviesen disponibles en formato de texto completo. Los resultados indican que, en las fechas estudiadas, todos los artículos sobre esta materia se habían realizado en España y que la percepción emocional es el asunto que ha concentrado la mayor cantidad de los trabajos – seguido, con mucha menor cantidad, por la competencia emocional y por la inteligencia emocional percibida –. La revista que más estudios ha publicado sobre el tema es EmásF, Revista digital de Educación Física, y el enfoque más utilizado en los estudios es el cuantitativo, en segundo lugar el cualitativo y finalmente el enfoque mixto. El conocimiento que se expone es de mucha utilidad para los profesionales de la Educación Física puesto que estimula la reflexión sobre su quehacer docente contribuyendo a generar estrategias que propicien un estado de bienestar en el alumnado. ESP

Resumen: El amor como parte de la dimensión afectiva del ser humano requiere ser incorporado significativamente en la labor pedagógica, no obstante, es un desafío complejo por la naturaleza de aquel afecto, por lo que este estudio pretende comprender la perspectiva del profesorado. El propósito del estudio es identificar la representación social del amor en la educación escolar por parte del profesorado que se desempeña en la educación pública. El estudio responde al enfoque cualitativo y sus participantes son seis docentes de diferentes disciplinas pedagógicas. La recolección de datos se realizó por medio de informes cualitativos y entrevistas semi-estructuradas. Los datos fueron sometidos a un análisis de contenido que constó de tres fases utilizando el programa Atlas. ti 7.5. Los resultados presentan dos familias, semántica del amor y rol del amor en la educación escolar, las cuales se encuentran compuestas por tres códigos cada una. Se concluye que los docentes perciben el amor como un componente esencial para el bienestar y el aprendizaje, el cual es construido socialmente y se transmite por medio del lenguaje, transformando la realidad educativa. Abstract: Love as part of the affective dimension of the human being needs to be incorporated significantly into the pedagogical work, however, it is a complex challenge because of the nature of that affect, so this study aims to understand the perspective of the teaching staff. The purpose of the study is to identify the social representation of love in school education by teachers who work in public education. The study responds to the qualitative approach and its participants are six teachers from different pedagogical disciplines. The data collection was done through qualitative reports and semi-structured interviews. The data were subjected to a content analysis consisting of three phases, using the Atlas.ti 7.5 program. The results present two families, semantics of love and the role of love in school education, which are composed of three codes each. It is concluded that teachers perceive love as an essential component for wellbeing and learning, which is socially constructed and transmitted through language, transforming the educational reality.

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.