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1.
GMS J Med Educ ; 38(1): Doc9, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33659614

RESUMO

Situation: The COVID-19 pandemic made the traditional bedside teaching inaccessible for medical students. Problem: Within a short period of time, established bedside teaching concepts had to be converted into online formats to meet the requirements of the health authorities. Approach: The Department of Neurology at the University Hospital Essen transformed the examination course in the 5th clinical semester into a live stream, taking into account data protection guidelines. This enabled students to participate from a distance, allowing them to take the medical history from a patient and to interact with the medical examiners. Thus, this concept goes beyond the video-based formats of the examination course. Optimization: During the course, we performed online evaluations to ensure an immediate feedback from the students. This enabled us to implement ongoing changes that had a positive impact on the course format, for example using better equipment to ensure a better video and audio quality. In the future, we hope to create a clinic's own online channel to further increase data security.


Assuntos
COVID-19/epidemiologia , Educação a Distância/organização & administração , Educação Médica/organização & administração , Exame Neurológico/métodos , Neurologia/educação , Humanos , Pandemias , SARS-CoV-2
2.
Med Genet ; 33(4): 311-318, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38835431

RESUMO

Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3' end and likely corresponds to the pathogenic part of the expansion. This repeat expansion has been identified so far in six genes located on different chromosomes, which remarkably encode proteins with distinct cellular localizations and functions. Although the exact pathophysiological mechanisms remain to be clarified, it is likely that FAME repeat expansions lead to disease independently of the gene where they occur. We herein review the clinical and molecular characteristics of this singular genetic disorder, which interestingly shares clinical features with other more common neurological disorders whose etiology remains mainly unsolved.

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