29 research outputs found
INTELLECTUAL DISABILITY AND PSYCHIATRIC DISORDERS AS EXCLUSION CRITERIA IN RANDOMIZED CONTROLLED TRIALS (RCT)
De-genderating the teaching education in Physical Education
El presente artículo se enmarca en el proyecto de investigación “La buena enseñanza. Intervenciones docentes y evaluación en clave de géneros. Estudio en los Profesorados Universitarios de Educación Física de la UNLu y UdelaR”, de la Universidad Nacional de Luján, Argentina. El propósito es compartir un taller vivencial llevado a cabo en el “II Encuentro de Estudios en Deporte” de la Universidad de la República, Uruguay (UdelaR). Dicha instancia surge como necesidad de generar un espacio práctico de problematización e indagación sobre la educación física y su enseñanza con perspectiva de géneros en la trayectoria de la formación docente, con el objeto que los y las participantes practiquen, apropien y transfieran la perspectiva de géneros al desarrollo de sus prácticas docentes.The present article is framed in the research project “The good teaching. Teaching interventions and evaluation in the key of gender. Study in the undergraduate teaching training courses of UNLu and UdelaR”, of the Universidad Nacional de Luján, Argentina. The purpose is to share a living workshop which took place during the “II Encounter in Sports Studies” of the Universidad de la República, Uruguay (UdelaR). Such instance arises as a need to generate a practical space to problematize and inquire about Physical Education and the ways to teach it linked to the gender perspective in the trajectory in teaching training, with the objective that the participants practice, appropriate and transfer such gender perspective to their teaching practices.Facultad de Humanidades y Ciencias de la Educació
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletions between 17–74 kb in 9% of the patients. Haploinsufficiency of the SHANK3 gene, confirmed in all rearrangements, is very likely the cause of the major neurological features associated with PMS. SHANK3 mutations can also result in language and/or social interaction disabilities. We determined the breakpoint junctions in 29 cases, providing a realistic snapshot of the variety of mechanisms driving non-recurrent deletion and repair at chromosome ends. De novo telomere synthesis and telomere capture are used to repair terminal deletions; non-homologous end-joining or microhomology-mediated break-induced replication is probably involved in ring 22 formation and translocations; non-homologous end-joining and fork stalling and template switching prevail in cases with interstitial 22q13.3. For the first time, we also demonstrated that distinct stabilizing events of the same terminal deletion can occur in different early embryonic cells, proving that terminal deletions can be repaired by multistep healing events and supporting the recent hypothesis that rare pathogenic germline rearrangements may have mitotic origin. Finally, the progressive clinical deterioration observed throughout the longitudinal medical history of three subjects over forty years supports the hypothesis of a role for SHANK3 haploinsufficiency in neurological deterioration, in addition to its involvement in the neurobehavioral phenotype of PMS
Management of acute seizures in children: A review with special consideration of care in resource-limited settings
Introduction: We sought to review recent evidence-based guidelines and where applicable, primary data to extrapolate insights into the appropriate management of acute seizures in children in resource-limited settings. Methods: PubMed and Google scholar searches were conducted with attention to publications from the last three to five years, including a focused search for acute seizure management guidelines relevant to resource limited settings. Since all guidelines to date, except the World Health Organizationâs, assume ready access to invasive ventilation and advanced diagnostic testing, guidelines and primary data were used to propose management appropriate for resource-limited settings where respiratory suppression from treatment presents a major challenge in management. Results: Acute seizures are among the commonest medical emergencies encountered in the African settings. Seizure management must occur simultaneously with the diagnostic assessment, which should include addressing life threatening causes (e.g. hypoglycaemia, malaria) and with attention given to the most likely aetiology in a particular region or setting. For ongoing seizures, initial treatment with benzodiazepines is indicated. There is evidence of efficacy for several agents and delivery modes. Longer-acting antiepileptic drugs (AEDs) should be on hand if acute seizures fail to respond to two doses of benzodiazepines. There is little direct evidence comparing the relative efficacy of different long-acting AEDs for acute seizure management in African children. Findings suggest that generalising data from Western settings, where different aetiologies and risk factors for seizures prevail, may be inappropriate. Discussion: Though treatment options and diagnostics may be dictated by available medications and capacity, it is possible for virtually any healthcare setting to develop a relevant and feasible local guideline for seizure management. Clear specifications on when to refer to a higher level of care should be part of the care plan. Keywords: Seizure, Epilepsy, Guidelines, Benzodiazepine, Antiepileptic dru
Supraventricular Tachycardia during Status Epilepticus in Dravet Syndrome: A Link between Brain and Heart?
Un giro pandémico en la investigación : Evaluación, perspectiva de género y formación docente en educación física
"Genera" es un colectivo de docentes y estudiantes de la carrera Profesorado Universitario de Educación Física de la Universidad Nacional de Luján (UNLu), Argentina. Nos reúne la intención de repensar la educación física en clave de géneros. El presente trabajo se propone presentar las acciones que hemos ido desarrollando durante el Aislamiento Social Preventivo y Obligatorio (ASPO) del año 2020 y los marcos conceptuales que dan soportes argumentativos teóricos a nuestra investigación.Fil: Rexach, Patricia. Colectivo "Genera" Universidad Nacional de Luján.Fil: Labaké, Leticia. Colectivo "Genera" Universidad Nacional de Luján.Fil: Bilo, Mayra. Colectivo "Genera" Universidad Nacional de Luján.Fil: Gravano, Ornella. Colectivo "Genera" Universidad Nacional de Luján.Fil: Ciccone, Santiago. Colectivo "Genera" Universidad Nacional de Luján.Fil: Vieytes, Manuel. Colectivo "Genera" Universidad Nacional de Luján.Fil: Bazán, Eugenia. Colectivo "Genera" Universidad Nacional de Luján.Fil: Mármol, Nicolás. Colectivo "Genera" Universidad Nacional de Luján
‘Being disabled’ as an exclusion criterion for clinical trials: a scoping review
Background People with disabilities (PWDs) are often excluded from biomedical research, but comprehensive data regarding their participation in clinical trials are not available. The objective of this study was to assess the rates of exclusion of PWDs from recent medical scientific research.Methods The protocol of the study was designed according to PRISMA-ScR (PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) extension for Scoping Reviews) guidelines. All completed interventional clinical trials registered on ClinicalTrials.gov between 2010 and 2020 regarding the 10 leading causes of global disability-adjusted life-years according to the Global Burden of Disease Study were analysed. An exclusion criterion from the study was considered explicit if it could be associated with one of the following seven categories: disability, physical impairment, cognitive impairment, behavioural or psychiatric disorders, language and communication impairment, sensory impairment. Comorbidities not more clearly defined and researcher discretion regarding exclusion of study participants were considered to be ‘implicit exclusion criteria’. We assessed the appropriateness of explicit exclusion criteria in relation to the primary objectives of the trials and labelled them as ‘absolute’, ‘relative’ or ‘questionable’.Results The total number of trials analysed was 2710; 170 were paediatric trials (6.3%), 2374 were adult trials (87.6%) and 166 were trials including subjects of all ages (6.1%). Explicit exclusion criteria were found in 958 trials (35.3%). The disability category most frequently excluded was behavioural or psychiatric disorders, present in 588 trials (61.4%). In only 3% and 1% of the trials, the exclusion criteria were considered either ‘absolute’ or ‘questionable’, while in 96% the exclusion criteria were judged as ‘relative’. Implicit exclusion criteria were present in 1205 trials (44.5%).Conclusions This study highlights the high rate of exclusion of PWDs from biomedical research and the widespread use of ill-defined exclusion criteria in clinical trials. It underscores the importance of more inclusive study designs so that PWDs can become active participants in research
Intellectual Disability and Psychiatric Disorders as Exclusion Criteria in Randomized Controlled Trials (RCT)
: People with intellectual disability or psychiatric disorders are commonly excluded from Randomized Controlled Trials (RCTs) because of explicit exclusion to the trials or because of inaccessible research protocols. We analyzed the exclusion rate of persons with cognitive impairment, psychiatric disorders and inability to give informed consent in interventional RCTs about the first 10 causes of global DALYs (disability- adjusted life-years) according to the Global Burden of Disease Study (GBD) utilizing the website Clinicaltrials.gov. A total of 2809 studies in the 10 selected categories were reviewed. "Cognitive impairment" was present in 488 (17.4%) studies, "Behavioural and psychiatric disorders" was present in 616 (21.9%) studies, "Inability to grant informed consent" was present in 498 (17.7%) studies and the three explicit criteria were present, alone or in combination, in 1076 studies (38.3%). Other disability-related exclusion criteria were considered to be implicit exclusion criteria and were present in 1233 (43.9%) studies. A judgement was made on the correlation between the exclusion criteria and the primary objectives of the studies analyzed. The low level of representation of people with disabilities in RCTs, in addition to being an ethical problem, is a limitation of scientific knowledge because it considerably reduces the external validity of a significant part of medical research. There is a need to review the way scientific research designs are constructed, seeking to promote greater inclusiveness of people with disabilities