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Alternating Hemiplegia of Childhood in Korea: a Case Report
신채원,유달라,김한준,전범석 대한의학회 2020 Journal of Korean medical science Vol.35 No.26
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
신채원,Beomseok Jeon 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.3
Nine patients with Parkinson’s disease (PD) or idiopathic rapid eye movement sleep disorder (iRBD) who underwent GI operation and had full-depth intestinal blocks were included. All patients were selected from our previous study population. A total of 10 slides (5 serial sections from the proximal and distal blocks) per patient were analyzed.
신채원,Beomseok Jeon 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.2
Postoperative delirium (POD) is a complication that develops after surgery and anesthesia, with a prevalence of 37%–46% among adult patients who have undergone surgery. Interestingly, hyposmia and rapid eye movement sleep behavior disorder (RBD), which are the representative prodromal nonmotor symptoms of synucleinopathy, are also risk factors for POD
신채원,이선,이지영,임정효,박선원 대한의학회 2018 Journal of Korean medical science Vol.33 No.13
Background: Quantitative susceptibility mapping (QSM) has been used to measure iron accumulation in the deep nuclei of patients with Parkinson's disease (PD). This study examined the relationship between non-motor symptoms (NMSs) and iron accumulation in the deep nuclei of patients with PD. Methods: The QSM data were acquired from 3-Tesla magnetic resonance imaging (MRI) in 29 patients with early PD and 19 normal controls. The Korean version of the NMS scale (K-NMSS) was used for evaluation of NMSs in patients. The patients were divided into high NMS and low NMS groups. The region-of-interest analyses were performed in the following deep nuclei: red nucleus, substantia nigra pars compacta, substantia nigra pars reticulata, dentate nucleus, globus pallidus, putamen, and head of the caudate nucleus. Results: Thirteen patients had high NMS scores (total K-NMSS score, mean = 32.1), and 16 had low NMS scores (10.6). The QSM values in the deep were not different among the patients with high NMS scores, low NMS scores, and controls. The QSM values were not correlated linearly with K-NMSS total score after adjusting the age at acquisition of brain MRI. Conclusion: The study demonstrated that the NMS burdens are not associated with iron accumulation in the deep nuclei of patients with PD. These results suggest that future neuroimaging studies on the pathology of NMSs in PD should use more specific and detailed clinical tools and recruit PD patients with severe NMSs.
신채원,김수현,조소영,이광우,장준영,김성민 대한신경과학회 2009 대한신경과학회지 Vol.27 No.4
Plasmapheresis is an emerging treatment for intravenous steroid-resistant neuromyelitis optica (NMO). We present the case of a 16-year-old girl who suffered from intravenous steroid-resistant NMO and whose neurological status improved markedly after treatment with plasmapheresis. This is the first report on the effectiveness of plasmapheresis in NMO in Korea. Plasmapheresis is an emerging treatment for intravenous steroid-resistant neuromyelitis optica (NMO). We present the case of a 16-year-old girl who suffered from intravenous steroid-resistant NMO and whose neurological status improved markedly after treatment with plasmapheresis. This is the first report on the effectiveness of plasmapheresis in NMO in Korea.
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
김은영,신채원 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.3
Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability.