• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Journal of Yeungnam Medical Science
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• 제6권2호
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• pp.141-146
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• 1989

본 교실에서는 최근 1년간 여러 level에 걸쳐있는 경추부 후종인대 골화증 및 경추강 협착증으로 인한 척수압박 증세가 잇는 4명의 환자에서 극돌기 종할법에 의한 경추강 확장술을 시행하여 전례에서 증세의 호전을 보였다. 그러므로 여러 level에 걸쳐있는 경추강 협착증, 척추증 및 후종인대 골화증으로 말미암은 척수압박 증세가 있는 환자에서 경추강 확장술을 시행함으로써 정상적인 구조를 유지시키면서 효과적인 척수강의 확장을 기하 수 있는 좋은 방법이라고 할 수 있다.

• Journal of Microbiology and Biotechnology
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• 제17권7호
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• pp.1059-1070
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• 2007

Prion diseases, often called transmissible spongiform encephalopathies (TSEs), are infectious diseases that accompany neurological dysfunctions in many mammalian hosts. Prion diseases include Creutzfeldt-Jakob disease (CJD) in humans, bovine spongiform encephalopathy (BSE, "mad cow disease") in cattle, scrapie in sheep, and chronic wasting disease (CWD) in deer and elks. The cause of these fatal diseases is a proteinaceous pathogen termed prion that lacks functional nucleic acids. As demonstrated in the BSE outbreak and its transmission to humans, the onset of disease is not limited to a certain species but can be transmissible from one host species to another. Such a striking nature of prions has generated huge concerns in public health and attracted serious attention in the scientific communities. To date, the potential transmission of prions to humans via foodborne infection and iatrogenic routes has not been alleviated. Rather, the possible transmission of human to human or cervids to human aggravates the terrifying situation across the globe. In this review, basic features about prion diseases including clinical and pathological characteristics, etiology, and transmission of diseases are described. Based on recently accumulated evidences, the molecular and biochemical aspects of prions, with an emphasis on the molecular interactions involved in prion conversion that is critical during prion replication and pathogenesis, are also addressed.

• Molecular & Cellular Toxicology
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• 제3권3호
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• pp.151-158
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• 2007

The failure of injured axons to regenerate in the mature central nervous system (CNS) has devastating consequences for victims of spinal cord injury (SCI). Traditional strategies to treat spinal cord injured people by using drug therapy and assisting devices that can not help them to recover fully various vital functions of the spinal cord. Many researches have been focused on accomplishing re-growth and reconnection of the severed axons in the injured region. Using cell transplantation to promote neural survival or growth has had modest success in allowing injured neurons to re-grow through the area of the lesion. Strategies for successful regeneration will require tissue engineering approach. In order to persuade sufficient axons to regenerate across the lesion to bring back substantial neurological function, it is necessary to construct an efficient biocompatible bridge (cell-free or implanted with different cell lines as hybrid implant) through the injured area over which axons can grow. Therefore, in this paper, spinal cord and its injury, different strategies to help regeneration of an injured spinal cord are reviewed. In addition, different aspects of designing a biocompatible bridge and its applications and challenges surrounding these issues are also addressed. This knowledge is very important for the development and optimalization of therapies to repair the injured spinal cord.

• Annals of Clinical Neurophysiology
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• 제19권1호
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• pp.64-67
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• 2017

Guillain-Barre syndrome (GBS) is an auto-immune disease of peripheral nerve system. It occurs mainly after preceding infection such as upper respiratory or gastrointestinal infection and other antecedent events as tetanus vaccinations. However, any case of GBS after tetanus infection has not been reported. Recently, when analyzed the clinical aspects of 13 tetanus patients including ours, 2 GBS occurred after tetanus infection. We report the neurological and electrophysiologic findings of two cases of Guillain-Barre Syndrome after generalized tetanus.

• 국제물리치료학회지
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• 제9권1호
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• pp.1435-1441
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• 2018

The main focus of this study was to investigate effects of lumbar central posteroanterior (PA) mobilization on isometric knee extension (IKE) ability and patellar tendon reflex amplitude (PTRA) in healthy university students. University students aged 19-26 (male; 10, female; 10) without any neurological disorders participated voluntarily and excluded the subjects with abnormal reflexes. The participation had an average body mass of $64.25{\pm}13.52kg$, an average height of $1.66{\pm}0.08m$, and an average Body Mass Index (BMI) of $23.07{\pm}3.21$. Every student was randomly assigned to be received squatting exercise and PA mobilization sequentially with 5 days of wash out period. IKE and PTRA were not significantly different between the two groups after the intervention. All the outcome measures were arranged into two data groups; PA mobilization and squatting exercise data group. In the PA mobilization data group, IKE and PTRA significantly increased after the intervention, however, these aspects were decreased in the squatting exercise group. These findings suggest that IKE and PTRA increase immediately after PA mobilization, therefore PA mobilization could be a valuable topic for controlled clinical trials.

• 대한장애인치과학회지
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• 제7권2호
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.

• Journal of Trauma and Injury
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• 제34권3호
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• pp.203-207
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• 2021

Penetrating brain injury caused by a nail gun is an uncommon clinical scenario reported in the literature. A 36-year-old male presented with a nail that had penetrated through the occipital bone. He was alert and neurologically intact except for visual disturbance. Computed tomography (CT) of the brain showed the nail lodged at the occipital lobe and the parietal lobe, with minimal intracerebral hemorrhage. The nail was placed in the occipital lobe close to the superior sagittal sinus. We removed the nail with craniotomy since the entrance of the nail was close to the superior sagittal sinus. There were no newly developed neurological deficits postoperatively. Immediate postoperative CT showed no newly developed lesions. The patient recovered well without any significant complications. Two weeks postoperatively, magnetic resonance imaging showed no remarkable lesions. The visual disturbance was followed up at the outpatient department. To summarize, we report a rare case of penetrating head injury by a nail gun and discuss relevant aspects of the clinical management.

• Mass Spectrometry Letters
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• 제13권4호
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• pp.115-124
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• 2022

Emerging evidence has shown that RNA-binding proteins (RBPs) dynamically regulate all aspects of RNA in cells and involve in major biological processes of RNA, including splicing, modification, transport, transcription and degradation. RBPs, as powerful and versatile regulatory molecule, are essential to maintain cellular homeostasis. Perturbation of RNA-protein interactions and aberration of RBPs function is associated with diverse diseases, such as cancer, autoimmune disease, and neurological disorders. Therefore, it is crucial to systematically investigate the RNA-binding proteome for understanding interactions of RNA with proteins. Thanks to the development of the mass spectrometry, a variety of proteome-wide methods have been explored to define comprehensively RNA-protein interactions in recent years and thereby contributed to speeding up the study of RNA biology. In this review, we systematically described these methods and summarized the advantages and disadvantages of each method.

• 인간행동과 음악연구
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• 제17권1호
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• pp.71-96
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• 2020

본 연구는 국내 음악치료 및 물리치료 분야에서 리듬청각자극(RAS)을 적용하여 수행된 연구를 비교분석하였다. 이를 위해 1999년부터 2018년 11월까지 발표된 학위 논문과 학술지 게재 연구 중 RAS 및 보행기능 관련 주제어를 검색하여 기준에 부합한 45개의 연구를 선정하였고, 세부중재방법과 리듬자극의 유형, 기술된 치료 원리의 측면에서 분석하였다. 분석 결과, 두 영역에서의 연구 모두 일정한 간격의 리듬을 핵심적인 치료 자극으로 사용하고 RAS의 기본 절차를 따른 점에서는 공통적이었지만, 목표기능이나 구체적인 리듬제공방법에 있어서는 차이가 있었다. 음악치료 연구에서는 모두 보행기능이 목표 변인이었던 데 비해, 물리치료 연구에서는 균형이나 근력, 고유수용성감각 등 관련 신체기능이 목표에 포함되었다. 또한 음악치료 연구에서는 다양한 요소를 포함한 '음악'이 리듬자극으로 활용된 반면, 물리치료 연구에서는 메트로놈을 리듬자극으로 활용한 연구가 음악을 활용한 연구보다 많았다. RAS 원리와 관련하여 단순한 기법 설명 외에 동조화와 같이 치료의 원리가 충분히 기술된 연구는 물리치료보다는 음악치료 분야에서 많이 확인되었다. 이러한 결과는 음악치료 연구에서는 리듬과 더불어 음악의 다양한 요소가 보행에 미칠 수 있는 영향이 고려되어 음악의 역할이 적극적으로 활용된 반면, 물리치료 연구에서는 보행에 영향을 미치는 다양한 신체기능에 대한 개입이 포함된 경향이 있음을 보여준다. 두 가지 측면 모두 재활에 있어 중요한 부분임을 고려할 때, 본 연구는 다학제간 연구를 기반으로 한 RAS 연구의 기법의 확장 적용에 대한 시사점을 제시한다고 할 수 있다.