AVALIAÇÃO E FEEDBACK DE DESEMPENHO DE ESTUDANTES NA EDUCAÇÃO A DISTÂNCIA

Performance assessment is a strategy to investigate students’ performance in the educational field.This paper aims to demonstrate what composes the performance assessment process, and especially, the feedback application in distance education. To understand these phenomena, it was performed a theoretical review that was supported by two perspectives: performance assessment concepts and the process of performance feedback to the student as a component of the performance assessment in distance education. There is a variety of concepts about performance assessment in the scientific literature. Some definitions emphasize the numeric expression interpretation of the student’s performance, and others focus on feedback’s application as a resource to improve the student’s performance. The performance assessment in distance education happens because of the interaction processes between teacher and student, which are mediated by technologies, and depend on feedback to promote teaching and learning activities. In distance education modality, the feedback to the students’ performance is a relevant issue for the educational orientation process, and for the social and professional performance improvement. The immediate and informative feedback strategy, which uses facilitating resources for the student follow his performance development, assists on the identification of what needs to be modified and refined through the educational process.Evaluación del desempeño del estudiante en la educación a distancia es una estrategia utilizada para investigar su rendimiento. Este artículo tiene como objetivo demostrar los aspectos que conforman el proceso de evaluación de desempeño de los estudiantes y sobre todo el uso de la retroalimentación en la distancia. Una revisión teórica sustentada en la investigación se llevó a cabo dos perspectivas de análisis: los coceptos de la evaluación del desempeño y el proceso de retroalimentación del desempeño estudiantil como una parte constitutiva de la evaluación del desempeño en la educación a distancia. Concecptos acerca de evaluación del desempeño son diversos en la literatura científica. Algunos se centran en la interpretación de la representación numérica del rendimiento de los estudiantes, mientras que otros centran sus comentarios en el uso de la retroalimentación como un medio para mejorar el rendimiento. La evaluación del desempeño en la educación a distancia surge de los procesos de interacción entre el profesor y el estudiante, mediada por la tecnología, sino que depende de la retroalimentación para promover la participación en las actividades de enseñanza-aprendizaje. El uso de la retroalimentación en el desempeño del estudiante es um aspecto relevante en el proceso y el rendimiento en vista de la mejora de su desempeño social y profesional. El uso de la estrategia retroalimentación inmediata y informativa con características que facilitan al alumno a seguir el desarrollo de su rendimiento ayuda a identificar lo que necesita ser modificado y perfeccionado en el proceso educativoAvaliação de desempenho é uma estratégia utilizada para investigar o desempenho de estudantes no contexto educacional presencial ou a distância. Este artigo tem por finalidade demonstrar os aspectos que constituem o processo de avaliação de desempenho de estudante e, especialmente, o uso de feedback na educação a distância. Foi realizada uma revisão teórica sustentada em duas perspectivas de análise: conceitos de avaliação de desempenho e o processo de feedback do desempenho do estudante como parte constituinte da avaliação de desempenho na educação a distância. Conceitos sobre avaliação de desempenho são diversos na literatura científica. Alguns enfatizam a interpretação da expressão numérica do desempenho do estudante, outras recaem seu foco no uso de feedback como meio de aperfeiçoamento do desempenho. A avaliação de desempenho na educação a distância decorre de processos de interação entre o tutor e o estudante, mediados por tecnologias, e dependem de feedback para promover a participação nas atividades de ensino-aprendizagem. Nessa modalidade, o uso de feedback do desempenho dos estudantes é considerado aspecto relevante à orientação do processo educativo e ao aperfeiçoamento do desempenho social e profissional. A estratégia de uso de feedback imediato e informativo, com recursos que facilitem ao estudante acompanhar o desenvolvimento de seu desempenho, auxilia-o na identificação do que necessita ser modificado e aperfeiçoado ao longo do processo educativo

Diagnosis, treatment, and follow-up of patients with cerebral amyloid angiopathy-related inflammation

Purpose Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare potentially reversible encephalopathy associated with an autoimmune process against proteins deposited in the walls of cortical and leptomeningeal brain vessels. Definite diagnosis requires histopathological features of vascular inflammation and amyloid deposition from brain biopsy. Clinical-neuroradiological criteria have been recently introduced and validated to reduce the need for biopsy. The purpose of this paper is to report a historical retrospective review of clinical-neuroradiological follow-up of two patients with probable CAA-ri and five patients with a reasonably probable suspect of CAA-ri (4 females, 3 males, patient's age at admission: 66-79 years) seen at our institution between 2007 and 2021, focusing on clinical and neuroradiological awareness to this entity and variable response to immunotherapy. Materials and methods Clinical features at presentation included subacute to acute confusion (6/7), seizures (4/7), cognitive impairment (5/7), and focal neurological signs (3/7). Neuroradiology included braincomputed tomography followed by magnetic resonance imaging. Infectious diseases and autoimmune workups were then performed. Results CSF analysis was performed in two patients. Cerebral angiography was performed in two patients, to rule out vascular malformations. Hemorrhagic posterior reversible encephalopathy syndrome has been suspected in two patients. Four patients underwent immunotherapy with corticosteroids followed by reduction of brain dysfunctions. Three patients did not undergo immunotherapy but underwent clinical and/or neuroradiological remission. Conclusions Patients with CAA-ri present a rare steroid-responsive acute to subacute brain dysfunction. Thus, it has to be known and recognized both clinically and neuroradiologically. Spontaneous clinical and/or neuroradiological improvement is possible in patients with mild symptoms

Niemann-Pick type C disease mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts

We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes. We found 15 mutations, eight of which previously unreported. The comparison of cDNA and genomic DNA revealed discrepancies in some subjects. In two unrelated patients carrying the same mutations (P474L and nt 2972del2) only one mutant allele (P474L), was expressed in fibroblasts. The mRNA corresponding to the other allele was not detected even in cells incubated with cycloheximide. The promoter variants (−1026T/G and −1186T/C or −238 C/G), found to be in linkage with 2972del2 allele do not explain the lack of expression of this allele, as they were also found in control subjects. In another patient, (N1156S/Q922X) the N1156S allele was expressed in fibroblasts while the expression of the other allele was hardly detectable. In a fourth patient cDNA analysis revealed a point mutation in exon 20 (P1007A) and a 56 nt deletion in exon 22 leading to a frameshift and a premature stop codon. The first mutation was confirmed in genomic DNA; the second turned out to be a T→G transversion in exon 22, predicted to cause a missense mutation (V1141G). In fact, this transversion generates a donor splice site in exon 22, which causes an abnormal pre-mRNA splicing leading to a partial deletion of this exon. In some NPC patients, therefore, the comparison between cDNA and genomic DNA may reveal an unexpected expression of some mutant alleles of NPC1 gene

A MATEMÁTICA VAI À ESCOLA

Apresentam-se resultados prelimina res de um projeto de ações inte gradas, cujoobjetivo está no desenvolvimento de atividades voltadas ao ens ino de Matemáticaentre alunos em fase inicial de escolarização, obedecendo a uma problemáticaassociada a dificuldades de aprendizagem da matemática de base. Os resultados,oriundos das observações frente às intervenções já realizadas e do tratamento dainformação advinda de questionários aplicados com as professoras das turmas deinterveção , indicam significativa m udança na motivação dos alunos para o os estudoestudos, déficits na formação das professoras, entre outros aspectos que podem contribuir para repensar currículo, formação docente e formas de trabalho no tocante aAlfabetização Matemática

Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson's disease

The Excitatory Amino Acid Transporter 2 (EAAT2) accounts for 80% of brain glutamate clearance and is mainly expressed in astrocytic perisynaptic processes. EAAT2 function is finely regulated by endocytic events, recycling to the plasma membrane and degradation. Noteworthy, deficits in EAAT2 have been associated with neuronal excitotoxicity and neurodegeneration. In this study, we show that EAAT2 trafficking is impaired by the leucine-rich repeat kinase 2 (LRRK2) pathogenic variant G2019S, a common cause of late-onset familial Parkinson’s disease (PD). In LRRK2 G2019S human brains and experimental animal models, EAAT2 protein levels are significantly decreased, which is associated with elevated gliosis. The decreased expression of the transporter correlates with its reduced functionality in mouse LRRK2 G2019S purified astrocytic terminals and in Xenopus laevis oocytes expressing human LRRK2 G2019S. In LRRK2 G2019S knock-in mouse brain, the correct surface localization of the endogenous transporter is impaired, resulting in its interaction with a plethora of endo-vesicular proteins. Mechanistically, we report that pathogenic LRRK2 kinase activity delays the recycling of the transporter to the plasma membrane via Rabs inactivation, causing its intracellular re-localization and degradation. Taken together, our results demonstrate that pathogenic LRRK2 interferes with the physiology of EAAT2, pointing to extracellular glutamate overload as a possible contributor to neurodegeneration in PD

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy

EMPOWERED trial: protocol for a randomised control trial of digitally supported, highly personalised and measurement-based care to improve functional outcomes in young people with mood disorders

Objectives: Many adolescents and young adults with emerging mood disorders do not achieve substantial improvements in education, employment, or social function after receiving standard youth mental health care. We have developed a new model of care referred to as ‘highly personalised and measurement-based care’ (HP&MBC). HP&MBC involves repeated assessment of multidimensional domains of morbidity to enable continuous and personalised clinical decision-making. Although measurement-based care is common in medical disease management, it is not a standard practice in mental health. This clinical effectiveness trial tests whether HP&MBC, supported by continuous digital feedback, delivers better functional improvements than standard care and digital support. Method and analysis: This controlled implementation trial is a PROBE study (Prospective, Randomised, Open, Blinded End-point) that comprises a multisite 24-month, assessor-blinded, follow-up study of 1500 individuals aged 15–25 years who present for mental health treatment. Eligible participants will be individually randomised (1:1) to 12 months of HP&MBC or standardised clinical care. The primary outcome measure is social and occupational functioning 12 months after trial entry, assessed by the Social and Occupational Functioning Assessment Scale. Clinical and social outcomes for all participants will be monitored for a further 12 months after cessation of active care. Ethics and dissemination: This clinical trial has been reviewed and approved by the Human Research Ethics Committee of the Sydney Local Health District (HREC Approval Number: X22-0042 & 2022/ETH00725, Protocol ID: BMC-YMH-003-2018, protocol version: V.3, 03/08/2022). Research findings will be disseminated through peer-reviewed journals, presentations at scientific conferences, and to user and advocacy groups. Participant data will be deidentified. Trial registration number: ACTRN12622000882729

Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease).

In order to study the role of vitamin E in the pathogenesis of ataxia telangiectasia, we analysed vitamin E serum levels in five children with this disorder. No differences with respect to controls were found. However, these negative results do not exclude that abnormal vitamin E metabolism may be present at the cellular level

Plasma levels of vitamin E in Parkinson's disease.

We report the analysis of plasma levels of vitamin E that has been found normal in 20 italian patients with Parkinson's disease (PD) confirming the previously reported results from other groups. We discuss the literature data about the possible protective effect of antioxidant agents in the PD and generally in the aging processes