小儿神经领域的离子通道病

人体内细胞与细胞间的快速交流取决于电信号 ,这些电信号是由带电荷的离子通过包埋于细胞膜内的特殊蛋白质即离子通道 (ｉｏｎｃｈａｎｎｅｌ)所产生的。这些离子通道在有机体的健康与存活中起重要作用 ,离子通道异常所导致的疾病又称离子通道病 (ｃｈａｎｎｅｌｏｐａｔｈｙ)。近 10年 ,由于临床、分子遗传学及细胞生理学等多学科协作 ,对于离子通道病发病的生物学基础及其与遗传及自身免疫等方面的关系已有更深入的认识。该类疾病虽然并非常见 ,但其中有不少于小儿时期起病 ,累及神经肌肉系统。非神经系统疾病如Ｂａｒｔｔｅｒ综合征、Ｘ…     

Visual expertise in paediatric neurology

BackgroundVisual expertise relies on perceptive as well as cognitive processes. At present, knowledge of these processes when diagnosing clinical cases mainly stems from studies with still pictures. In contrast, patient video cases constitute a dynamic diagnostic challenge that may simulate seeing and diagnosing a patient in person.AimsThis study investigates visual attention and the concomitant cognitive processes of clinicians diagnosing authentic paediatric video cases.MethodsA total of 43 clinicians with varying levels of expertise took part in this cross-sectional study. They diagnosed four brief video recordings of children: two with seizures and two with disorders imitating seizures. We used eye tracking to investigate time looking at relevant areas in the video cases and a concurrent think-aloud procedure to explore the associated clinical reasoning processes.ResultsMore experienced clinicians were more accurate in visual diagnosis and spent more of their time looking at relevant areas. At the same time, they explored data less, yet they built and evaluated more diagnostic hypotheses.ConclusionsClinicians of varying expertise analyse patient video cases differently. Clinical teachers should take these differences into account when optimising educational formats with patient video cases.     

Magnetic Resonance Spectroscopy in pediatric neurology

In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.