Ressignificando os processos inclusivos a partir da Complexidade e do Pensamento Eco - Sistêmico

Resumo O presente artigo contempla uma discussão sobre as possibilidades da Educação Especial nos processos inclusivos. Nesse cenário, buscamos compreender as relações entre educação especial e regular na construção de práticas inclusivas, analisar as especificidades do diálogo entre as áre - as de saúde e educação e, finalmente, a formação de professores para construção desses processos. O cenário investigado foi um projeto de assesso - ria realizado pelo Lar Escola São Francisco/Uni - fesp à Secretaria de Formação e Educação Profis - sional do Município de Santo André. Os eixos da ação contemplaram diagnóstico de alunos com deficiência física, formação de professores, acessi - bilidade física e pedagógica ao contexto educa - cional. As questões que orientaram a investigação deram prioridade à análise dos processos vividos nas ações diagnósticas e de formação. Palavras-chave: Educação especial; Práticas inclusivas; Deficiência física; Formação de professores. Abstract This paper contemplates a debate about the possibilities of the Special Education in the inclusive processes. In this scenario we try to un - derstand the relations between special an regular education in the building of inclusive practices, analyse the specific points in the dialog between the health and education areas and, finally, the formation of teachers to create this processes. The scenario was an accessory project which was made by Lar Escola São Francisco/ Unifesp with the Secretaria de Formação e Educação Profis - sional of Santo André. The actions contemplate the diagnosis of students with physical debilities, formation of teachers, physical and pedagogical accessibilities to the educational context. The questions which oriented this investigation prio - ritized the analysis of the processes lived through the diagnostic and formation actions. Key words: Special education; Inclusive practices; Physical debilities; Formation of teachers

Severe combined immunodeficiency-an update

Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life-threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency. SCID patients often die during the first two years of life if appropriate treatments to reconstitute their immune system are not undertaken. Conventionally, SCIDs are classified according either to the main pathway affected by the molecular defect or on the basis of the specific immunologic phenotype that reflects the stage where the blockage occurs during the differentiation process. However, during the last few years many new causative gene alterations have been associated with unusual clinical and immunological phenotypes. Many of these novel forms of SCID also show extra-hematopoietic alterations, leading to complex phenotypes characterized by a functional impairment of several organs, which may lead to a considerable delay in the diagnosis. Here we review the biological and clinical features of SCIDs paying particular attention to the most recently identified forms and to their unusual or extra-immunological clinical features

Tecnologias e Empoderamento

O artigo reflete sobre limites e possibilidades do Programa Um Computador por Aluno (PROUCA), no estado de São Paulo, na ressignificação das práticas pedagógicas, na inclusão digital e no empoderamento de professores e alunos. O marco teórico abrange dois campos conceituais: inclusão digital e empoderamento freireano. A pesquisa qualitativa se vale da análise temática de conteúdo dos registros de campo das visitas às cinco escolas, escolhidas segundo critérios de amostra intencional. A caracterização do Programa no cenário mundial contextualiza o relato analítico das escolas. A discussão dos resultados sugere que, diante da realidade plural das escolas e das recorrências referentes aos avanços e aos problemas por elas enfrentados, restam muitos desafios ao Programa, como instância significativa para a inclusão digital, a ressignificação das práticas pedagógicas e o empoderamento de professores e alunos

DiGeorge-like Syndrome in a Child with a 3p12.3 Deletion Involving MIR4273 Gene Born to a Mother with Gestational Diabetes Mellitus

Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling. We report on a 7-year-old Caucasian male born to a mother affected with gestational diabetes (GDM) who had a 371Kb-interstitial deletion of 3p12.3 identified by array CGH, involving the ZNF717, MIR1243 and 4273 genes. The child presented with a DiGeorge anomaly (DGA) associated with unilateral renal agenesis and language delay. The immunological evaluation revealed a severe reduction and impairment of T lymphocytes. FISH analysis and TBX1 sequencing were negative. Among the miRNA-4273 predicted target genes, we found BMP3, which is involved in several steps of embryogenesisincluding kidney and lung organogenesis and in insulin gene expression. Since DGA is not commonly found in newborns of diabetic mothers, we hypothesize that the pathogenesis of DGA associated with GDM is multifactorial, involving both genetic and/or epigenetic cofactors

Transcatheter implantable devices to monitoring of elevated left atrial pressures in patients with chronic heart failure

Elevated left atrial (LA) pressures are associated with poor prognosis in heart failure (HF). Invasive monitoring of LA-pressures and direct mechanical LAdecompression are associated with functional improvement in patients suffering from HF both with reduced and preserved ejection fraction. We aim to review the current available percutaneously implantable sensors for haemodynamic telemonitoring of LApressures (direct LAP sensor device- HeartPOD; right ventricular device- Chronicle; pulmonary artery deviceCardioMEMs)

Big Health Data and Cardiovascular Diseases: A Challenge for Research, an Opportunity for Clinical Care

Cardiovascular disease (CVD) accounts for the majority of death and hospitalization, health care expenditures and loss of productivity in developed country. CVD research, thus, plays a key role for improving patients' outcomes as well as for the sustainability of health systems. The increasing costs and complexity of modern medicine along with the fragmentation in healthcare organizations interfere with improving quality care and represent a missed opportunity for research. The advancement in diagnosis, therapy and prognostic evaluation of patients with CVD, indeed, is frustrated by limited data access to selected small patient populations, not standardized nor computable definition of disease and lack of approved relevant patient-centered outcomes. These critical issues results in a deep mismatch between randomized controlled trials and real-world setting, heterogeneity in treatment response and wide inter-individual variation in prognosis. Big data approach combines millions of people's electronic health records (EHR) from different resources and provides a new methodology expanding data collection in three direction: high volume, wide variety and extreme acquisition speed. Large population studies based on EHR holds much promise due to low costs, diminished study participant burden, and reduced selection bias, thus offering an alternative to traditional ascertainment through biomedical screening and tracing processes. By merging and harmonizing large data sets, the researchers aspire to build algorithms that allow targeted and personalized CVD treatments. In current paper, we provide a critical review of big health data for cardiovascular research, focusing on the opportunities of this largely free data analytics and the challenges in its realization

Effects of physical activity on endothelial progenitor cells (EPCs)

Physical activity has a therapeutic role in cardiovascular disease (CVD), through its beneficial effects on endothelial function and cardiovascular system. Circulating endothelial progenitor cells (EPCs) are bone marrow (BM) derived cells that represent a novel therapeutic target in CVD patients, because of their ability to home to sites of ischemic injury and repair the damaged vessels. Several studies show that physical activity results in a significant increase in circulating EPCs, and, in particular, there are some evidence of the beneficial exercise-induced effects on EPCs activity in CVD settings, including coronary artery disease (CAD), heart failure (HF), and peripheral artery disease (PAD). The aim of this paper is to review the current evidence about the beneficial effects of physical exercise on endothelial function and EPCs levels and activity in both healthy subjects and patients with CVD

Il metodo Feuerstein e la sindrome di Rett: protocollo di applicazione dello strumento del Pas Basic “Riconosci l’emozione”

Rett syndrome (RTT) is a severe X-linked neurological disorder that affects almost exclusively in females and only a small percentage of males. It is characterised by a developmental regression in the motor and speech–language domains. Until now, studies relating to working with children with RTT have focused on activities promoting “how to do” rather than “how to be,” with proposals of structured activities and maintaining the girls in learning situations for repetitiveness, which minimises the possibility of unexpected eventsand errors, without the possibility of empowerment. Adaptation of the tool “Identifying Emotions” of the “Instrumental Enrichment – Basic Program” (IE–B) was born from the desire to try to overcome the simple basic tasks of labelling and discrimination. The aim was to try to eliminate some operation deficits with providing Mediated Learning Experience (MLE), based on Reuven Feuerstein’s Theory of Structural Cognitive Modifiability (SMC). MLE has been organised according to the phase-specific cognitive needs of each child, experiencesthat are not usually proposed for this degree of mental retardation and speech impairment.La sindrome di Rett (RTT) è una patologia neurologica progressiva di origine genetica, X linked, che colpisce quasi esclusivamente il sesso femminile. Presenta la concomitanza di disturbi percettivi, motori e cognitivi che determinano l’impossibilità o la difficoltà di interazione con l’ambiente circostante con conseguenti distorsioni dello sviluppo cognitivo ed affettivo -relazionale.Fino ad oggi gli studi, relativi al lavoro con bambine affette da RTT, si sono concentrati su attività di stimolo al “saper fare” piuttosto che al “saper essere”, con proposte di attività strutturate che, mantenendo i soggetti in situazioni di apprendimento per ripetitività di alcune mansioni o abilità, riducono al minimo la possibilità di imprevisti e di errori. Questi percorsi, riducendo al minimo la possibilità di nuove scoperte e di sperimentare percorsi alternativi, non generano alcun incremento di sviluppo.La rielaborazione dello Strumento del Pas Basic “Riconosci le emozioni” del metodo Feuerstein nasce dalla volontà di cercare di superare la semplice attività di base di etichettatura e discriminazione attualmente proposta all’interno dei training cognitivi. L’intervento mira all’eliminazione dei deficit di funzionamento fornendo alcune Esperienze di Apprendimento Mediato (EAM) organizzate tenendo conto dei bisogni cognitivi fasespecifici di ogni bambina, esperienze a cui non vengono mai sottoposte dato il grado del loro ritardo mentalee le loro difficoltà di comunicazione e linguaggio

MicroRNs and cardiovascular diseas es: from bench to beside

MicroRNAs (microRNAs or miRs) are small, noncoding RNAs that control gene expression by binding to and repressing specific mRNA target and have emered as powerful regulators of many biological processes. Understanding miRNAs-biology and functions may be pivotal to get a better insight into pathophysiological mechanisms responsible for a large number of morbid conditions and may lay the foundations for the development of novel therapeutic interventions. Moreover, besides their intracellular functions, miRs are present in the human circulation in a remarkably stable cell-free form, and their plasmatic levels have been proposed as biomarkers for several pathological conditions. The present review aims to summarize the current evidences with regard to biological role of miRNAs in cardiovascular system and their involvement in the pathogenesis of cardiovascular diseases including atherosclerosis, heart failure and pathological heart and vascular remodelling and to highlight their potential use as novel biomarkers and as therapeutic targets in cardiac and vascular diseases

The androgen receptor/filamin A complex as a target in prostate cancer microenvironment.

Prostate cancer represents the major cause of cancer-related death in men and patients frequently develop drug-resistance and metastatic disease. Most studies focus on hormone-resistance mechanisms related to androgen receptor mutations or to the acquired property of prostate cancer cells to over-activate signalling pathways. Tumour microenvironment plays a critical role in prostate cancer progression. However, the mechanism involving androgen/androgen receptor signaling in cancer associated fibroblasts and consequences for prostate cancer progression still remains elusive. We now report that prostate cancer associated fibroblasts express a transcriptional-incompetent androgen receptor. Upon androgen challenging, the receptor co-localizes with the scaffold protein filamin A in the extra-nuclear compartment of fibroblasts, thus mediating their migration and invasiveness. Cancer-associated fibroblasts move towards epithelial prostate cancer cells in 2D and 3D cultures, thereby inducing an increase of the prostate cancer organoid size. Androgen enhances both these effects through androgen receptor/filamin A complex assembly in cancer-associated fibroblasts. An androgen receptor-derived stapled peptide, which disrupts the androgen receptor/filamin A complex assembly, abolishes the androgen-dependent migration and invasiveness of cancer associated fibroblasts. Notably, the peptide impairs the androgen-induced invasiveness of CAFs in 2D models and reduces the overall tumour area in androgen-treated 3D co-culture. The androgen receptor in association with β1 integrin and membrane type-matrix metalloproteinase 1 activates a protease cascade triggering extracellular matrix remodeling. The peptide also impairs the androgen activation of this cascade. The present study offers a potential new marker, the androgen receptor/filamin A complex, and a new therapeutic approach targeting intracellular pathways activated by the androgen/androgen receptor axis in prostate cancer-associated fibroblasts. Such a strategy, alone or in combination with conventional therapies, may allow a more efficient treatment of prostate cancer