An educational experience with digital storytelling in a classroom of early childhood education for the development of the digital competence

Presentamos un cuento electrónico que hemos diseñado sobre las Tecnologías de la Información y la Comunicación para alumnos de Educación Infantil. Este recurso multimedia, al que hemos denominado el cuento de Los TICinventos, se contextualiza dentro de una experiencia innovadora desarrollada para favorecer la competencia digital de estos niños y secundariamente, su competencia comunicativa. El trabajo se ha llevado a cabo, en una primera fase, en un centro público de Educación Infantil y Primaria de la Región de Murcia. Los análisis cualitativos de la información obtenida mediante los dibujos de los niños y las manifestaciones verbales de éstos y su maestra, ponen de manifiesto el valor didáctico de la experiencia y que los aprendizajes relativos a las citadas competencias se producen. En esta comunicación explicamos el proceso de diseño y elaboración del cuento eléctronico adaptándolo a las características personales y de aprendizaje del alumnado de esta etapa educativa

Immobilization in ionogel: a newway to improve the activity and stability of candida antarctica lipase B

New Candida antarctica lipase B derivatives with higher activity than the free enzyme were obtained by occlusion in an organogel of an ionic liquid (ionogel) based on the ionic liquid [Omim][PF6] and polyvinyl chloride. The inclusion of glutaraldehyde as a crosslinker improved the properties of the ionogel, allowing the enzymatic derivative to reach 5-fold higher activity than the free enzyme and also allowing it to be reused at 70 ◦C. The new methodology allows enzymatic derivatives to be designed by changing the ionic liquid, thus providing a suitable microenvironment for the enzyme. The ionic liquid may act on substrates to increase their local concentration, while reducing water activity in the enzyme’s microenvironment. All this allows the activity and selectivity of the enzyme to be improved and greener processes to be developed. The chemical composition and morphology of the ionogel were also studied by scanning electron microscopy–energy dispersive X-ray spectroscopy, finding that porosity, which was related with the chemical composition, was a key factor for the enzyme activity.This research was partially supported by the Spanish Ministry of Economy and Competitiveness (MINECO) (Grant number: RTI2018-099011-B-I00) and Séneca Foundation (Grant number: 20957/PI/18

FRATERNIDADE E EDUCAÇÃO À LUZ DO PACTO EDUCATIVO GLOBAL

Apresentação do Dosssiê

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

[Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing.[Results] A total of 26 pathogenic mutations, 22 of which predict truncated proteins, were identified in 29 familial forms and in three sporadic cases. The repertoire includes six novel non-sense and frameshift mutations in CCM1 and CCM3. We also found four missense mutations, one of them located at the third NPXY motif of CCM1 and another one that leads to cryptic splicing of CCM1 exon 6. We found four genomic deletions with the loss of the whole CCM2 gene in one patient and a partial loss of CCM1and CCM2 genes in three other patients. Four families had mutations in CCM3. The results include a high frequency of intronic variants, although most of them localize out of consensus splicing sequences. The main symptoms associated to clinical debut consisted of cerebral haemorrhage, migraines and epileptic seizures. The rare co-occurrence of CCM with Noonan and Chiari syndromes and delayed menarche is reported.[Conclusions] Analysis of CCM genes by sequencing and MLPA has detected mutations in almost 35% of a Spanish cohort (36% of familial cases and 10% of sporadic patients). The results include 13 new mutations of CCM genes and the main clinical symptoms that deserves consideration in molecular diagnosis and genetic counselling of cerebral cavernous malformations.This work has been supported by grants CP10/00526 (Instituto de Salud Carlos III, Spain) and P07-CVI-02790 (Junta de Andalucía, Spain). RM received a fellowship of José Luis Castaño Foundation.Peer Reviewe

Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis

[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). [Case Report]This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatological and extracutaneous symptoms in her 9th month of life. The neurological abnormalities of the disease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications. [Conclusions]The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations. © 2014 Korean Neurological Association.The authors thank the patient and her family for their participation, and the financial support of grants from MICINN (no. SAF2007-60508) and Consejería de Ciencia Junta de Andalucía (no. CVI02790).Peer Reviewe

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Objective: To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. Methods: We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. Results: A total of 26 pathogenic mutations, 22 of which predict truncated proteins, were identified in 29 familial forms and in three sporadic cases. The repertoire includes six novel non-sense and frameshift mutations in CCM1 and CCM3. We also found four missense mutations, one of them located at the third NPXY motif of CCM1 and another one that leads to cryptic splicing of CCM1 exon 6. We found four genomic deletions with the loss of the whole CCM2 gene in one patient and a partial loss of CCM1and CCM2 genes in three other patients. Four families had mutations in CCM3. The results include a high frequency of intronic variants, although most of them localize out of consensus splicing sequences. The main symptoms associated to clinical debut consisted of cerebral haemorrhage, migraines and epileptic seizures. The rare co-occurrence of CCM with Noonan and Chiari syndromes and delayed menarche is reported. Conclusions: Analysis of CCM genes by sequencing and MLPA has detected mutations in almost 35% of a Spanish cohort (36% of familial cases and 10% of sporadic patients). The results include 13 new mutations of CCM genes and the main clinical symptoms that deserves consideration in molecular diagnosis and genetic counselling of cerebral cavernous malformations.Instituto de Salud Carlos III CP10/00526Junta de Andalucía P07-CVI-02790Fundación José Luis Castañ

Man’s access to health services in primary care

Objective: To investigate the factors that influence man’s access to health services in primary care. Method: It is a descriptive and exploratory study, with a qualitative approach, carried out with eight men through focus group in October 2010. The data was analyzed based on the technique of the Collective Subject Discourse. Results: The users expressed precarious investment in the service organization from a gender perspective, reinforcing common sense that men are not the primary users, and remain subsidized by a patriarchal ideology. Conclusion: It is necessary to think about determining socio-historical-cultural ways of life, illness and death of the today’s man, and to establish a new paradigm men’s health in modern life