• 대한소아치과학회지
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• 제40권1호
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• pp.66-71
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• 2013

근이영양증은 점진적인 근육 약화를 특징으로 하는 유전질환이다. 그 중 후쿠야마 선천성 근이영양증은 상염색체 열성으로 유전되며, 영아기 초기부터 시작되어 중추신경계, 안면근 등에도 이환되고 다발성 관절구축도 나타난다. 근이영양증 환자는 호흡기계나 심장 등의 합병증 발생 위험이 있으며, 특히 흡입마취제를 이용한 전신마취 시 악성고열증 가능성이 문제가 된다. 본 증례에서는 후쿠야마 선천성 근이영양증을 가진 3세 9개월 여아의 다발성 우식증을 전정맥마취 하에 치료하였다. 전신마취 유도 및 유지를 위해 프로포폴을 효과처 농도 $3{\sim}3.5{\mu}g/mL$, 진통 효과를 위해 레미펜타닐을 1.5 ng/mL 목표농도 조절주입하였다. 적절한 마취 심도와 안정적인 생징후를 유지하며 합병증 발생없이, 후쿠야마 선천성 근이영양증 환아의 전정맥마취하 다발성 치아우식 치료가 성공적으로 이루어져 이를 보고하고자 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권4호
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• pp.225-232
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• 2013

Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.75-79
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• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.23-26
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• 1998

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoRI and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.

• 대한장애인치과학회지
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• 제15권1호
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• pp.50-54
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• 2019

본 증례는 다수의 치아우식증을 주소로 내원한 근이영양증 환자의 전신마취 하 치과치료에 대한 보고이다. 근이영양증 환자들은 진행성 근육 약화로 인해 구강위생 관리하기가 힘들고 치아우식이 호발할 수 있다. 따라서 정기적으로 치과를 내원하고 올바른 구강 위생 습관을 확립할 수 있도록 환자 및 보호자교육을 실시하여야 한다. 치과치료 시에는 흡인으로 인한 호흡기 합병증이 발생하지 않도록 액체의 흡입을 주의 깊게 하여야 한다. 비협조적이거나 매우 어린 근이영양증 환자에서는 전신마취가 필요할 수 있다. 전신마취 시에는 악성 고열증의 위험 때문에 휘발성 마취제를 피해야 한다.

• 한국전문물리치료학회지
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• 제6권3호
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• pp.72-81
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• 1999

The purpose of this study was to identify the differences in pulmonary functioning after respiratory exercise with IPPB (Intermittent Positive Pressure Breather) in patients with progressive muscular dystrophy (PMD). The subjects were 46 patients with PMD who were admitted to the Rehabilitation Medicine Department of Youngdong Severance Hospital. The subjects were assigned into one of 2 groups. The control group received comprehensive treatments such as ROM exercise, deep breathing exercise, moist hot packs, and ultrasound twice a day while admitted at the Rehabilitation Medicine Department. Unlike the control group, the subjects at the experimental group received respiratory exercise treatment with IPPB. The subjects were admitted for 10~19 days, and the average length of hospital stay was 12.2 days. Pulmonary functioning was evaluated at admission and discharge by SENSOR MEDICS. The data were analyzed by a paired t-test and a independent t-test. The results were as follows: 1) The change of each parameter of pulmonary function tests were significantly improved in all groups after respiratory exercise treatment during admission (p<0.05). 2) By comparing the change of each parameter of pulmonary function tests between the experimental group and control group, the parameters of vital capacity (VC), forced vital capacity, forced vital capacity predicted (FVCP) and forced expiratory volume in 1 second (FEV1) were significantly improved in the experimental group which had received the pulmonary exercise treatment with IPPB (p<0.05). In conclusion, this study suggests that the pulmonary exercise treatments with IPPB facilitated improvement in the pulmonary functioning for the PMD patients during their hospital stay.

• 생명과학회지
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• 제31권10호
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• pp.913-921
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• 2021

고관절과 어깨의 점진적인 근육 약화를 특징으로 하는 지대형 근이영양증(limb-girdle muscular dystrophy: LGMD)은 우성 및 열성 유전을 모두 보여주며, TTN을 비롯한 많은 유전자가 발병과 관련된 것으로 알려져 있다. 본 연구는 40대 중반의 늦은 발병을 나타낸 상염색체 열성 LGMD 및 심방 조동의 증상을 가진 한 남성 환자의 유전적 원인을 규명하기 위해 수행되었다. 전장 엑솜 서열분석을 수행하여 환자로부터 TTN 유전자의 복합 이형 접합성 변이의 대립유전자를 동정하였다. 한 대립유전자는 [c.24124G>T (p.V8042F)]의 단일 변이를 보였지만, 다른 대립유전자는 [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]의 세 변이로 구성된 단상형이었다. 대립유전자 중 p.V8042F는 어머니로부터 유전된 반면, 다른 단상형 대립유전자는 아버지로부터 유전된 것으로 추정되었다. 본 연구에서 분리된 TTN 변이들은 공공 인간 유전체 데이터베이스(1,000 Genomes, gnomAD 및 KRGDB)에서 보고되지 않았거나 매우 낮은 빈도로 보고되었다. 대부분의 변이들은 고도로 보존된 면역글로불린 또는 피브로넥틴 도메인에 위치했으며, 일부 in silico 분석에 의해 병원성인 것으로 예측되었다. TTN 거대 단백질은 근육 조립, Z-라인에서 힘 전달, I-밴드에서 안정 장력 유지에 중요한 역할을 한다. 결론적으로, 우리는 이러한 이형접합성 복합 돌연변이의 이중 대립유전자가 LGMD 표현형의 유전적 원인으로서 작용할 수 있을 것으로 제시한다.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1987년도 전기.전자공학 학술대회 논문집(II)
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• pp.1329-1332
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• 1987

This paper describes a design of the expert system for diagnosis of abnormal gait patients. This system makes the rule-based representation that can easily extend the knowledge-base and naturally represent the uncertainty, and the inference engine that uses forward chaining which covers the reasoning from the first condition to the goal. The results of inferring various maladies using this system are as follows: 1) In cases of progressive muscular dystrophy, cerebral vascular accident, peripheral neuropathic lesion and peroneal nerve injury, the result of inference is the same as that of medical specialists' with 100% accuracy. 2) In cases of Neuritis, Paralysis agitan and Brain tumor, the accuracy of inference is less than 50% compared to that of medical specialists. With above results, we decide that the rule-based representations of some maladies ard accurate relatively, but that the correction and the extention of some rules and some methods of problem solving are required in order to construct the complete expert system for diagnosis of abnormal gait patients.

• 한국조리학회지
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• 제23권1호
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• pp.66-78
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• 2017

"Sarcopenia", sarcopenia is an old age syndrome, and used to describe the reduction of skeletal muscle. Initially, it was thought that sarcopenia was only a senile disease characterized by degeneration of muscle tissue. However, its cause is widely regarded as multifactorial, with neurological decline, hormonal changes, inflammatory pathway activation, declines in activity, chronic illness, fatty infiltration, and poor nutrition, all shown to be contributing factors. Skeletal muscle mass can be measured by a variety of methods, currently, the commonly used methods are dual-energy X-ray scanning (DXA), computer tomography (CT), magnetic resonance imaging (MRI), etc. Muscular skeletal disorders can also be assessed by measuring appendicular skeletal muscle (ASM), particularly muscle tissue content. At the same time, sarcopenia refers to skeletal muscle cell denervation, mitochondrial dysfunction, inflammation, hormone synthesis and secretion changes and a series of consequences caused by the above process and is a progressive loss of skeletal muscle syndrome, which can lead to the decrease of muscle strength, physical and functional disorders, and increase the risk of death. Sarcopenia is mainly associated with the aging process, but also related to other causes such as severe malnutrition, neurodegenerative diseases, and disuse and endocrine diseases associated with muscular dystrophy, and it is the comprehensive results of multi-factors, so it is difficult to define that sarcopenia is caused by a specific disease. With the aging problem of the population, the incidence of this disease is increasingly common, and seriously affects the quality of the life of the elderly. This paper reviews the etiology and pathogenesis of myopathy, screening methods and diagnosis, the influence of eating habits, etc, and hopes to provide reference for the diagnosis and treatment of this disease. At present, adequate nutrition and targeted exercise remain the gold standard for the therapy of sarcopenia.