Comprensión lectora a través del cuento en estudiantes de secundaria

El artículo presenta resultados parciales de la investigación titulada “Fortalecimiento de la comprensión lectora en estudiantes de secundaria a través del cuento en la Institución Educativa Técnica Ramón Ignacio Avella del municipio de Aquitania”. En el referente teórico se consideran aspectos como comprensión lectora y el cuento. La investigación se desarrolló bajo un enfoque critico-social, como también cualitativo; el proceso se llevó a cabo con la metodología investigación acción, permitiendo no solo indagar las dificultades en comprensión lectora en el nivel literal, inferencial y crítico inter-textual; sino reflexionar sobre la forma como los participantes interaccionan en el entorno social y familiar con respecto a cómo entienden y construyen significados en la lectura. Se utilizó el cuento como estrategia pedagógica para fortalecer la comprensión lectora. Al contrastar el test inicial con el final, se encontró un avance del 12 %, evidenciando un mejor desempeño en los niveles inferencial y crítico inter-textual

En las canteras de Clío y Mnemosine: apuntes historiográficos sobre el Grupo Memoria Histórica

This article focuses on the production of the Memoria Histórica (mh: Historic Memory) Group Colombian political violence and armed conflicts, analyzing the way the object of research has been studied and the connections this production has with memory policies and the construction of subjectivities. Even though the group distances itself from the official versions of history, their narrative becomes official history given the way the group has anchored itself into State memory policies. The group, by placing emphasis on the experiences and significations of victims, influences the understanding of conflict, the creation of subjectivities, and the formation of policy in a special way, revealing some of their configurations.Este trabalho faz uma aproximação à produção do Grupo Memória Histórica (mh) sobre a violência política e o conflito armado colombianos, indagando sobre o tratamento dado ao objeto de estudo, assim como os nexos dessa produção com as políticas da memória e da constituição de subjetividades. Ainda que o grupo se afaste de versões oficiais da história, sua narrativa se constitui em uma história oficial em virtude de sua ancoragem com as políticas da memória estatais. Ao posicionar o foco na experiência e nas significações das vítimas, incide-se de maneira especial nas compreensões sobre o conflito, na constituição de subjetividades e na formação política, e revela, assim, algumas de suas configurações.Este artículo hace un acercamiento a la producción del Grupo Memoria Histórica (mh) sobre la violencia política y el conflicto armado colombianos, sondeando el tratamiento dado al objeto de estudio, así como los nexos de esta producción con las políticas de la memoria y la constitución de subjetividades. Aunque el grupo se desmarca de versiones oficiales de la historia, su narrativa se constituye en una historia oficial en virtud de su anclaje con las políticas de la memoria estatales. Al situar el acento en la experiencia y en las significaciones de las víctimas, se incide de manera especial en las comprensiones sobre el conflicto, la constitución de subjetividades y la formación política develando algunas de sus configuraciones

Comprensión lectora a través del cuento en estudiantes de secundaria

El artículo presenta resultados parciales de la investigación titulada “Fortalecimiento de la comprensión lectora en estudiantes de secundaria a través del cuento en la Institución Educativa Técnica Ramón Ignacio Avella del municipio de Aquitania”. En el referente teórico se consideran aspectos como comprensión lectora y el cuento. La investigación se desarrolló bajo un enfoque critico-social, como también cualitativo; el proceso se llevó a cabo con la metodología investigación acción, permitiendo no solo indagar las dificultades en comprensión lectora en el nivel literal, inferencial y crítico inter-textual; sino reflexionar sobre la forma como los participantes interaccionan en el entorno social y familiar con respecto a cómo entienden y construyen significados en la lectura. Se utilizó el cuento como estrategia pedagógica para fortalecer la comprensión lectora. Al contrastar el test inicial con el final, se encontró un avance del 12 %, evidenciando un mejor desempeño en los niveles inferencial y crítico inter-textual

GDP-mannose: GlcNAc₂-PP-dolichol mannosyltransferase deficiency (CDG Ik): 5 new patients and 7 novel mutations

International audienceBackground: In type I Congenital Disorders of Glycosylation (CDG I), proteins necessary for the biosynthesis of the lipid-linked oligosaccharide (LLO) required for protein N-glycosylation are defective. A deficiency in GDP-mannose: GlcNAc-PP-dolichol mannosyltransferase (MT-1) causes CDG Ik (OMIM 608540), and only five patients, with severe multisystemic clinical presentations, have been described with this disease. Objective: To characterise genetic, biochemical and clinical data in 5 new CDG Ik cases and compare these findings with those of the 5 previously described patients. Methods: LLO biosynthesis was examined in skin biopsy fibroblasts, mannosyltransferases were assayed in microsomes prepared from these cells, and -encoding MT-1 was sequenced at both the DNA and cDNA levels. Clinical data for the 5 new patients were collated. Results: Cells from 5 patients with non-typed CDG I revealed accumulations of GlcNAc-PP-dolichol, the second intermediate in the biosynthesis of LLO. Assay of MT-1, 2 and 3, the first three mannosyltransferases required for extension of this intermediate demonstrated only MT-1 to be deficient. DNA sequencing of ALG1 revealed 9 different mutations, 7 of which have not been previously reported. Clinical presentations are severe with CNS involvement and ocular disturbances being prevalent. Conclusions: CDG Ik presents at the severe end of the CDG I clinical spectrum, and in our experience, along with CDG Ib (MPI deficiency: OMIM 602579), is the second most frequently diagnosed CDG I after CDG Ia (PMM2 deficiency: OMIM 601785). Accordingly, we propose that CDG Ik should be given more consideration when diagnostic strategies are prioritised based on apparent CDG I subtype frequencies

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

International audienceThe molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012. Located on Xp22.2, PIGA is involved in the synthesis of GPI (glycosylphosphatidylinositol) which acts as a membrane anchor for different proteins: enzymes, adhesion molecules, regulation of the complement way, and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy, severe dysmorphic signs, multi-visceral anomalies and early death in the most severe forms. Here, we report five cases of germline PIGA mutations, with two missense mutations that have not been reported to date. We provide a new insight into the electroclinical phenotype. At the onset, epileptic spasms and focal-onset seizures with upper limbs and ocular involvements were present. Epilepsy proved pharmacoresistant in 4 out of 5 cases. Interictal EEG may be normal at the onset of epilepsy, but abnormalities in electroencephalographic studies were eventually present in all cases. Different types of seizures may be present simultaneously, and epileptic phenotypes evolve with aging

Functional classification of ATM variants in ataxia-telangiectasia patients.

Ataxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their pathogenic effects. In this study, multiple functional analyses were performed on lymphoblastoid cell lines from 36 patients, comprising 49 ATM variants, 24 being of uncertain significance. Thirteen patients with atypical phenotype and presumably hypomorphic variants were of particular interest to test strength of functional analyses and to highlight discrepancies with typical patients. Western-blot combined with transcript analyses allowed the identification of one missing variant, confirmed suspected splice defects and revealed unsuspected minor transcripts. Subcellular localization analyses confirmed the low level and abnormal cytoplasmic localization of ATM for most A-T cell lines. Interestingly, atypical patients had lower kinase defect and less altered cell-cycle distribution after genotoxic stress than typical patients. In conclusion, this study demonstrated the pathogenic effects of the 49 variants, highlighted the strength of KAP1 phosphorylation test for pathogenicity assessment and allowed the establishment of the Ataxia-TeLangiectasia Atypical Score to predict atypical phenotype. Altogether, we propose strategies for ATM variant detection and classification

<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 unpreviously published and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: i) EIMFS (152 individuals, 33 previously unpublished); ii) DEE other than EIMFS (non-EIMFS DEE) (37 individuals, 17 unpublished); iii) (AD)SHE (53 patients, 14 unpublished); iv) other phenotypes (6 individuals, 2 unpublished). In our cohort of 66 new cases, the most common phenotypic features were: a) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; b) in non-EIMFS DEE, possible onset with West syndrome, occurrence of atypical absences, possible evolution to DEE with SHE features; one case of sudden unexplained death in epilepsy (SUDEP); c) in (AD)SHE, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in about 50% of the patients, SUDEP in one individual; d) other phenotypes in individuals with mutation of KCNT1 included temporal lobe epilepsy, and epilepsy with tonic-clonic seizures and cognitive regression. Genotypic analysis of the whole cohort of 248 individuals showed only missense mutations and one inframe deletion in KCNT1. Although the KCNT1 mutations in affected individuals were seen to be distributed among the different domains of the KCNT1 protein, genotype-phenotype considerations showed many of the (AD)SHE-associated mutations to be clustered around the RCK2 domain in the C-terminus, distal to the NADP domain. Mutations associated with EIMFS/non-EIMFS DEE did not show a particular pattern of distribution in the KCNT1 protein. Recurrent KCNT1 mutations were seen to be associated with both severe and less severe phenotypes. Our study further defines and broadens the phenotypic and genotypic spectrums of KCNT1-related epileptic conditions and emphasizes the increasingly important role of this gene in the pathogenesis of early onset DEEs as well as in focal epilepsies, namely (AD)SHE

Clinical spectrum of STX1B-related epileptic disorders.

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies