• 생명과학회지
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• 제11권3호
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• pp.279-283
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• 2001

Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

• 대한치과의사협회지
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• 제53권12호
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• pp.926-934
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• 2015

Obstructive sleep apnea (OSA), most common respiratory disorder of sleep, is characterized by intermittent partial or complete occlusions of the upper airway due to loss of upper airway dilating muscle activity during sleep superimposed on a narrow upper airway. Termination of these events usually requires arousal from sleep and results in sleep fragmentation and hypoxemia, which leads to poor quality of sleep, excessive daytime sleepiness, reduced quality of life and numerous other serious health consequences. Untreated OSA may cause, or be associated with, several adverse outcomes, including daytime sleepiness, increased risk for motor vehicle accidents, cardiovascular disease, and depression. Various treatments are available, including non-surgical treatment such as medication or modification of life style, continuous positive airway pressure (CPAP) and oral appliance (OA). Skeletal surgery for obstructive sleep apnea (OSA) aims to provide more space for the soft tissue in the oropharynx to prevent airway collapse during sleep. Conventional surgical techniques include uvopalatopharyngoplasty(UPPP), genioglossus advancement (GA), and maxillomandibular advancement (MMA). Surgical techniques, efficacy and complications of skeletal surgery are introduced in this review.

• Journal of Oral Medicine and Pain
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• 제43권3호
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• pp.61-69
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• 2018

Obstructive sleep apnea (OSA) is a relatively common, but greatly underdiagnosed sleep-related breathing disorder, characterized by recurrent collapse of the upper airway during sleep. OSA has been associated with a variety of cardiometabolic disease, such as hypertension, coronary artery disease, cardiac arrhythmia, cerebrovascular disease and metabolic dysfunction. Neurocognitive impairment, including excessive daytime sleepiness, increased risk of motor vehicle accidents, is also related to OSA. Sleep fragmentation and related arousals during sleep lead to intermittent hypoxia, sympathetic activation, oxidative stress, systemic inflammation and metabolic dysregulation which provide biological plausibility to this pathologic mechanism. Extensive studies demonstrated that OSA is a modifiable risk factor for the above mentioned diseases and oral appliances (OAs), although continuous positive air pressure (CPAP) is a first-line therapy of OSA, are not inferior to CPAP at least in mild OSA, and may be an alternative to CPAP in CPAP-intolerant subjects with OSA. The goal of this article is to provide a current knowledge of pathologic link between OSA and cardiovascular disease, focusing on intermittent hypoxia, sympathetic activation, oxidative stress and metabolic dysregulation. Then, previous epidemiologic studies will be reviewed to understand the causal relationship between OSA and cardiovascular disease. Finally, the effects of OAs will be updated via recent metaanalyses compared to CPAP.

• 대한약침학회지
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• 제3권1호
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• pp.119-140
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• 2000

The authors reports in order to study the effect of Bee Venom therapy of progressive muscle atrophy. The authors investigated 1 patient who is treated at Woosuk University Oriental Medical Hospital. The patient diagnosed by MRI EMG Hematology Muscle biopsy as progressive muscle atrophy is administered by Bee Venom therapy for 4 months. Bee Venom therapy is operated by 2 times per a week(every 3 days, 0.1cc per one operation, 0.05cc per one acupuncture point). The authors checked changes of this patient's chief symptoms by comparing before and after Bee Venom therapy is operated at 30 times. After Bee Venom therapy, the patient increased motor power & ROM, decreased general cooling sense & swallowing disorder. As above, the authors conclude that better results can be obtained Oriental Medical Treatment with Bee Venom therapy in progressive muscle atrophy

• 대한치과마취과학회지
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• 제13권4호
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• pp.195-201
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• 2013

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by the degeneration of upper and lower motor neurons. The disorder causes muscle weakness and atrophy in airway muscles including pharyngeal, laryngeal and other respiratory muscles. The response to muscle realxant is also altered in patients with ALS. Because of the inherent muscle weakness and associated respiratory insufficiency, particular attentions are needed in anesthetic management of ALS patients. We used proper doses of inhalation anesthetics and opioids under EEG-entropy (electroencephalography-entropy)-monitoring without the use of muscle realxants in the anesthetic management of a patient with ALS. The patient early recovered and was discharged on the same day without any respiratory complications.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권2호
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• pp.42-44
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• 2018

Prader-Willi syndrome (PWS) is a multisystemic complex disorder characterized by hyperphagia and impaired satiety which lead to severe and early obesity. In infancy, hypotonia and poor suck are main problems, and a child goes through Failure-to-thrive. During childhood, clinical manifestations change to food seeking as well as excessive weight gain, short stature, developmental delay, cognitive disability and behavioral problems. Also, growth hormone insufficiency is frequent. Most patients receive the recombinant growth hormone (rGH) therapy that provides improvement in growth, body composition, and physical attributes. The clinical care guideline for rGH therapy in PWS had been noticed in 2013. The rGH therapy helps in body fat, lean body mass, height SDS and head circumference. Also, the rGH therapy helps motor function, psychomotor development and cognition and behavioral issues.In Samsung medical center, there are clinical care guidelines for rGH therapy in PWS and an useful application for the patients. 'Living with PWS', the name of an moblie application for PWS patients, was introduced in the lecture. The application revised to version 2. It was made more convenient to users than in version 1. It helps caregivers to schedule the rGH therapy and to monitor height and weight.

• 혜화의학회지
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• 제27권2호
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• pp.21-29
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• 2018

Objectives : The purpose of this study was to report the effect of Korean medical treatment on left basal ganglia infarction. Methods : We performed acupuncture and administered herbal medicine to one patient to alleviate symptoms of hemiplegia such as motor disorder, facial palsy, and dysarthria. Manual Muscle Test(MMT), Hand Grip Test(HGT), Gait Level(GL), and Dysarthria grade were used to evaluate status of the patient. Results & Conclusions : The results of this research showed that overall symptoms of hemiplegia in the patient were improved. According to the results, the Korean medical treatment is considered to be effective on patients of left basal ganglia infarction to treat symptoms of hemiplegia. Further studies with larger sample sizes are needed to examine this issue.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.14-21
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• 2024

Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal development of the ocular motor system. INS is a genetically heterogeneous disorder for which there are more than 100 causative genes. Since applying clinical tests for the differential diagnosis of INS can be challenging in early infancy and children, genetic testings such as next-generation sequencing are becoming more important for achieving accurate diagnoses. An improved understanding of the molecular mechanisms of INS may also lead to the development of gene-based therapies for INS. These advantages of genetic testing have the potential to change the diagnostic paradigm of patients with INS. However, the diagnostic pathway based on genetic testing still has several limitations in terms of the therapeutic effect and methodology. This review summarizes genetic and clinical features of INS, and discusses the promise and pitfalls of genetic testing in INS.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제15권1호
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• pp.82-90
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• 2004

목 적：본 연구에서는 주의력 결핍과잉행동장애 아동을 대상으로 주요 3가지 실행기능 영역인 억제능력, 작업기억, 그리고 계획능력 면에서 정상아동과의 수행차이를 비교 분석하였으며, 실행기능 수행에 영향을 미치는 나이와 지능을 통제하여 고찰하였다. 또한 억제통제능력을 인지억제와 행동억제로 구분하여 수행을 비교연구 하였다. 방 법：대상은 주의력결핍과잉행동장애로 진단된 아동 25명으로 연령범위는 7세에서 12세였고, 비교집단은 동일연령의 정상 아동 25명이였다. 모든 아동들에게 개별적으로 지능검사와 실행기능 검사(고노고, 스트룹 간섭과제, 하노이탑, 숫자검사)를 실시하였으며, 나이와 지능을 공변인으로 한 공변량 분석을 하였다. 결 과：지능에서 ADHD아동과 정상아동간에 유의미한 차이를 보였으며, 나이는 각 실행기능 검사와 유의미한 상관을 보였다. ADHD아동은 정상아동에 비해서 억제능력과 작업기억에서 유의미하게 저조한 수행을 보였다. 하지만, 지능과 나이를 통제했을 경우, 작업기억과 계획능력에서는 수행차이가 없었다. 논 의：ADHD아동은 전반적인 실행기능에서 손상을 보이는 것이 아니라 억제능력(인지억제와 행동억제)에 어려움이 있으며, 억제능력이 ADHD의 주요결함임을 시사해준다. 이와 같은 결론은 치료적 개입시 인지억제 및 행동억제에 중점을 둔 치료방법이 필요함을 시사해준다.