Pupils with intellectual disability in compulsory secondary education in Basque Country: situation and needed improvements

11 p.[ES] La educación secundaria en España está siendo objeto de un intenso debate en la actualidad y, dentro de ese contexto, la respuesta que se da a las necesidades educativas especiales. En la Comunidad Autónoma Vasca, un elevado número de alumnos y alumnas con discapacidad intelectual (DI) está escolarizado en centros ordinarios en este tramo del sistema. Este trabajo tiene dos objetivos centrales: primero, analizar de la manera más precisa posible la situación real de este colectivo a través de sus protagonistas: el propio alumnado con discapacidad intelectual, familiares o allegados y profesionales que les atienden. Y, segundo, realizar propuestas que contribuyan a mejorar la calidad de una escuela para toda la ciudadanía. La metodología incluye procedimientos cuantitativos y cualitativos en los que las percepciones de los protagonistas ocupan un lugar destacado. Este artículo resume el diseño del estudio y su estado actual de desarrollo.[EN] In Spain, in these moments, Secondary Education is being subject of an intense debate and, within this context, attention given to pupils with special needs. In Basque Country, a large amount of pupils with intellectual disabilities are enrolled in ordinary programmes at this stage of educational system. This work has two main aims: firstly, analyzing in the most precise way the real situation of these boys and girls, through its actors: pupils themselves, their families and professionals serving them. And, secondly, suggesting a possible agenda that could help to improve the quality of a school for all citizenship. Methodology includes both quantitative and qualitative procedures, in which we underline the role of actor’s perceptions. This article summarizes this research design and its present development.Esta investigación es una iniciativa de FEVAS (Federación Vasca de Asociaciones en favor de Personas con Discapacidad Intelectual), que con el patrocinio del Departamento de Educación, se ha plasmado en un acuerdo entre la Universidad de Deusto y esta Federación

Use of Fourier-Transform Infrared (FTIR) Spectroscopy with IR Biotyper® System for Legionella pneumophila serogroups identification

Legionella spp. are Gram-negative bacteria that inhabit freshwater environments representing a serious risk for human health. Legionella pneumophila (Lp) is the species most frequently responsible for a severe pneumonia, known as Legionnaires’ disease. Lp consists of 15 serogroups (Sgs), usually identified by monoclonal or polyclonal antibodies. Concerning Lp serogrouping, it is well known that phenotyping methods do not have a sufficiently high discriminating power, while genotypic methods although very effective, are expensive and laborious. Recently, mass spectrometry and infrared spectroscopy have proved to be rapid and successful approach for the microbial identification and typing. Different biomolecules (e.g., lipopolysaccharides) adsorb infrared radiation originating a specific microbial fingerprint. The development of a classification system based on the intra-species identification features allows a rapid and reliable typing of strains for diagnostic and epidemiological purposes. The aim of the study was the evaluation of Fourier Transform Infrared Spectroscopy using the IR Biotyper® system (Bruker Daltonik, Germany) for the identification of Lp at serogroup (Sg) level for diagnostic purposes as well as in outbreak events. A large dataset of Lp isolates (n=133) and ATCC reference strains representing the 15 Lp serogroups were included. The discriminatory power of instrument’s classifier, by Principal Component Analysis (PCA) and Linear Discriminant Analysis (LDA) was tested. All isolates were classified as follow: 12/133 (9.0 %) Lp Sg1 and 115/133 (86.5%) as Lp Sg 2-15 (including both ATCC and environmental Lp serogroup). Moreover, a mis-classification for 2/133 (1.5%) isolates of Lp Sg 2-15 returned as Lp Sg1 was observed and 4/133 (3.0%) isolates were not classified. The accuracy of 95.49% and an error rate of 4.51% were calculated. IR Biotyper® is able provide a quick and cost-effective reliable Lp classification with advantages compared to agglutination tests that show ambiguous and unspecific results. Further studies including a larger number of isolates could be useful to implement the classifier obtaining a robust and reliable tool for the routine Lp serogrouping. IR Biotyper® could be a powerful and easy-to-use tool to identify Lp Sgs especially during cluster/outbreak investigations, to trace the source of the infection and promptly adopt preventive and control strategies

Networks of superconducting nano-puddles in 1/8 doped YBa2Cu3O6.5+y controlled by thermal manipulation

While it is known that the nature and the arrangement of defects in complex oxides have an impact on the material functionalities little is known on control of superconductivity by oxygen interstitial organization in cuprates. Here we report direct compelling evidence for the control of Tc, by manipulation of the superconducting granular networks of nanoscale puddles, made of ordered oxygen stripes, in a single crystal of YBa2Cu3O6.5+y with average formal hole doping p close to 1/8. Upon thermal treatments we were able to switch from a first network of oxygen defects striped puddles with OVIII modulation (qOVIII(a*)=(h+3/8,k,0) and qOVIII(a*)=(h+5/8,k,0)), to second network characterized by OXVI modulation (qOXVI(a*)=(h+7/16,k,0) and qOXVI(a*)=(h+9/16,k,0)), and finally to a third network with puddles of OV periodicity (qOV(a*)=(4/10,1,0) and qOV(a*)=(6/10,1,0)). We map the microscopic spatial evolution of the out of plane OVIII, OXVI and OV puddles nano-size distribution via scanning micro-diffraction measurements. In particular, we calculated the number of oxygen chains (n) and the charge density (holes concentration p) inside each puddle, analyzing areas of 160x80 {\mu}m2, and recording 12800 diffraction patterns to reconstruct each spatial map. The high spatial inhomogeneity shown by all the reconstructed spatial maps reflects the intrinsic granular structure that characterizes cuprates and iron-chalcogenides, disclosing the presence of several complex networks of coexisting superconducting domains with different lattice modulations, charge density and different gaps like in the proposed multi-gaps scenario called superstripes.Comment: 5 figure

El alumnado con discapacidad intelectual en la educación secundaria de la Comunidad Autónoma Vasca: situación y mejoras necesarias

La educación secundaria en España está siendo objeto de un intenso debate en la actualidad y, dentro de ese contexto, la respuesta que se da a las necesidades educativas especiales. En la Comunidad Autónoma Vasca, un elevado número de alumnos y alumnas con discapacidad intelectual (DI) está escolarizado en centros ordinarios en este tramo del sistema. Este trabajo tiene dos objetivos centrales: primero, analizar de la manera más precisa posible la situación real de este colectivo a través de sus protagonistas: el propio alumnado con discapacidad intelectual, familiares o allegados y profesionales que les atienden. Y segundo, realizar propuestas que contribuyan a mejorar la calidad de una escuela para toda la ciudadanía. La metodología incluye procedimientos cuantitativos y cualitativos en los que las percepciones de los protagonistas ocupan un lugar destacado. Este artículo resume el diseño del estudio y su estado actual de desarrollo

Case Report: First Report of Fatal Legionella pneumophila and Klebsiella pneumoniae Coinfection in a Kidney Transplant Recipient

A very rare case of pulmonary Klebsiella pneumoniae-Legionella pneumophila coinfection in a double kidney transplanted man affected by the chronic renal disease is described. Cases of Legionnaires’ disease with an incubation period of 14 days have rarely been documented. Despite the long period of hospitalization, typing of clinical and environmental L. pneumophila strains demonstrated that the patient’s home water distribution system was the source of infection, highlighting that Legionella house contamination can be a hidden risk, especially for immune-compromised people

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2), respectively. The ubiquitous FECH catalyzes the insertion of iron into the protoporphyrin ring to generate the final product, heme. After hemoglobinization, FECH can utilize other metals like zinc to bind the remainder of the protoporphyrin molecules, leading to the formation of zinc protoporphyrin. Therefore, FECH deficiency in EPP limits the formation of both heme and zinc protoporphyrin molecules. The erythroid-specific ALAS2 catalyses the synthesis of delta-aminolevulinic acid (ALA), from the union of glycine and succinyl-coenzyme A, in the first step of the pathway in the erythron. In XLP, ALAS2 activity increases, resulting in the amplified formation of ALA, and iron becomes the rate-limiting factor for heme synthesis in the erythroid tissue. Both EPP and XLP lead to the systemic accumulation of protoporphyrin IX (PPIX) in blood, erythrocytes, and tissues causing the major symptom of cutaneous photosensitivity and several other less recognized signs that need to be considered. Although significant advances have been made in our understanding of EPP and XLP in recent years, a complete understanding of the factors governing the variability in clinical expression and the severity (progression) of the disease remains elusive. The present review provides an overview of both well-established facts and the latest findings regarding these rare diseases

Pupils with intellectual disability in compulsory secondary education in Basque Country: situation and needed improvements

11 p.[ES] La educación secundaria en España está siendo objeto de un intenso debate en la actualidad y, dentro de ese contexto, la respuesta que se da a las necesidades educativas especiales. En la Comunidad Autónoma Vasca, un elevado número de alumnos y alumnas con discapacidad intelectual (DI) está escolarizado en centros ordinarios en este tramo del sistema. Este trabajo tiene dos objetivos centrales: primero, analizar de la manera más precisa posible la situación real de este colectivo a través de sus protagonistas: el propio alumnado con discapacidad intelectual, familiares o allegados y profesionales que les atienden. Y, segundo, realizar propuestas que contribuyan a mejorar la calidad de una escuela para toda la ciudadanía. La metodología incluye procedimientos cuantitativos y cualitativos en los que las percepciones de los protagonistas ocupan un lugar destacado. Este artículo resume el diseño del estudio y su estado actual de desarrollo.[EN] In Spain, in these moments, Secondary Education is being subject of an intense debate and, within this context, attention given to pupils with special needs. In Basque Country, a large amount of pupils with intellectual disabilities are enrolled in ordinary programmes at this stage of educational system. This work has two main aims: firstly, analyzing in the most precise way the real situation of these boys and girls, through its actors: pupils themselves, their families and professionals serving them. And, secondly, suggesting a possible agenda that could help to improve the quality of a school for all citizenship. Methodology includes both quantitative and qualitative procedures, in which we underline the role of actor’s perceptions. This article summarizes this research design and its present development.Esta investigación es una iniciativa de FEVAS (Federación Vasca de Asociaciones en favor de Personas con Discapacidad Intelectual), que con el patrocinio del Departamento de Educación, se ha plasmado en un acuerdo entre la Universidad de Deusto y esta Federación

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA. SETTING: Italy. PARTICIPANTS: 66 index cases and 33 relatives carrying 1-3 DRA. OUTCOMES: The clinical examination was performed using the standardised FSHD evaluation form with validated inter-rater reliability. To investigate the earliest signs of disease, we designed the Infantile Anamnestic Questionnaire (IAQ). Comparison of age at onset was performed using the non-parametric Wilcoxon rank-sum or Kruskal-Wallis test. Comparison of the FSHD score was performed using a general linear model and Wald test. Kaplan-Meier survival analysis was used to estimate the age-specific cumulative motor impairment risk. RESULTS: No patients had perinatal onset. Among index cases, 36 (54.5%) showed the first signs by 10 years of age. The large majority of patients with early disease onset (26 out of 36, 72.2%) were de novo; whereas the majority of patients with disease onset after 10 years of age were familial (16, 53.3%). Comparison of the disease severity outcome between index cases with age at onset before and over 10 years of age, failed to detect statistical significance (Wald test p value=0.064). Of 61 index cases, only 17 (27.9%) presented extra-muscular conditions. Relatives carrying 1-3 DRA showed a large clinical variability ranging from healthy subjects, to patients with severe motor impairment. CONCLUSIONS: The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity

Plasma Small Extracellular Vesicle Cathepsin D Dysregulation in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration

Emerging data suggest the roles of endo-lysosomal dysfunctions in frontotemporal lobar degeneration (FTLD) and in other dementias. Cathepsin D is one of the major lysosomal proteases, mediating the degradation of unfolded protein aggregates. In this retrospective study, we investigated cathepsin D levels in human plasma and in the plasma small extracellular vesicles (sEVs) of 161 subjects (40 sporadic FTLD, 33 intermediate/pathological C9orf72 expansion carriers, 45 heterozygous/homozygous GRN mutation carriers, and 43 controls). Cathepsin D was quantified by ELISA, and nanoparticle tracking analysis data (sEV concentration for the cathepsin D level normalization) were extracted from our previously published dataset or were newly generated. First, we revealed a positive correlation of the cathepsin D levels with the age of the patients and controls. Even if no significant differences were found in the cathepsin D plasma levels, we observed a progressive reduction in plasma cathepsin D moving from the intermediate to C9orf72 pathological expansion carriers. Observing the sEVs nano-compartment, we observed increased cathepsin D sEV cargo (ng/sEV) levels in genetic/sporadic FTLD. The diagnostic performance of this biomarker was fairly high (AUC = 0.85). Moreover, sEV and plasma cathepsin D levels were positively correlated with age at onset. In conclusion, our study further emphasizes the common occurrence of endo-lysosomal dysregulation in GRN/C9orf72 and sporadic FTLD