• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.49-53
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• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• The Journal of Dong Guk Oriental Medicine
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• v.8 no.2
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• pp.47-67
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• 2000

The purpose of this study is to assess the usefulness of thermography in patients with musculoskeletal disease. Thermography is noninvasive, easy to reading, objective and physiologic instrument by measuring and imaging infrared energy emitted from skin surface. Thermography can show the skin temperature changes in various conditions of the body with musculoskeletal disease. This literature review was done for the usefulness of thermography in diagnosing musculoskeletal disease. In conclusion, thermography was adapted in radiculopathy, MPS, peripheral neuropathy, RSD, Raynaud's phenomen, TMJ dysfunction, etc. It was useful as a secondary diagnostic method in those diseases, also possible as a primary diagnostic method in RSD, Raynaud's phenomen. And, it might be reliable tool for estimating disease procedure and consequence after treatment. But, the objectivity of the reading and the development of the operating method are required for further adaptation in musculoskeletal disease.

• Journal of Biomedical Engineering Research
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• v.20 no.1
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• pp.81-90
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• 1999

This paper describes an EEG(electroencephalogram) software for two-channel cerebral function monitoring system to detect the cerebral ischemia. In the software, two-channel bipolar analog EEG signals are digitized and from the signals various EEG parameters are extracted and displayed on a monitor in real-time. Digitized EEG signal is transformed by FFT(Fast Fourier transform) and represented as CSA(compressed spectral array) and DSA(density spectral array). Additional 5 parameters, such as alpha ratio, percent delta, spectral edge frequency, total power, and difference in total power, are estimated using the FFT spectra. All of these are effectively merged in a monitor and displayed in real-time. Through animal experiments and clinical trials on men, the software is modified and enhanced. Since the software provides raw EEG, CSA, DSA, simultaneously with additional 5 parameters in a monitor, it is possible to observe patients multilaterally. For easy comparison of patient's status, reference patterns of CSA, DSA can be captured and displayed on top of the monitor. And user can mark events of surgical operation and patient's conditions on the software, this allow him jump to the points of events directly, when reviewing the recorded EEG file afterwards. Other functions, such as forward/backward jump, gain control, file management are equipped and these are operated by simple mouse click. Clinical tests in a university hospital show that the software responds accurately according to the conditions of patients and medical doctors can use the software easily.

• Journal of the Korean Society of Radiology
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• v.16 no.5
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• pp.649-660
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• 2022

In 1959, Satomura used spectral Doppler ultrasound to express the velocity of red blood cells according to time change, and Kato defined a zero-base line that could tell the direction of blood flow, making it possible to know the direction of blood flow. This became the basis for the widely used classifications of Triphasic, Biphasic, and Monophasic. However, the above classification has limitations that confuse users with the meaning and timing of use in a clinical environment. As a result, the American Society for Vascular Medicine (SVM) and the Society for Vascular Ultrasound (SVU) A consensus document on Doppler waveform analysis was declared by the joint committee. This study tried to review this consensus and to suggest nomenclature and modifiers that can be used in the domestic vascular ultrasound clinical field. The joint committee formed by SVM and SVU recommended that the use of the triphasic waveform and the biphasic waveform be used as a multiphasic waveform rather than being used due to the ambiguity of interpretation. In addition, it was agreed to name the hybrid-type waveform, which is a monophasic and high-resistance waveform, which has always been a problem of interpretation in a clinical environment, as an intermediate resistive waveform. In addition, in order to increase the communication efficiency between the interpreter and the sonographer, waveform analysis was classified into a main descriptor and a modifier, and it was recommended to use a single nomenclature by unifying various synonyms. It is expected that this literature review will provide accurate arterial spectral Doppler waveform interpretation and an agreed-upon nomenclature to radiologists performing vascular ultrasound examination in clinical practice, and will be utilized as basic data that can contribute to the improvement of public health.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.62-66
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• 2011

Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.

• Korean Journal of Psychosomatic Medicine
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• v.11 no.1
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• pp.69-76
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• 2003

Objectives: Many researches have been done to compare psychopathology of functional gastrointestinal disorder and inflammatory bowel disease which involves structural change. Recently, many studies focused on the topic of alexithymia. The results from these studies were questionable for lack of valid measures of alexithymia and valid diagnostic criteria of functional gastrointestinal disorders. Therefore, we tried to overcome these two problems and to assess alexithymia, personality characteristics, and other psychopathology. Methods: The subjects consisted of ulcerative colitis group(N=28) who were diagnosed by colonoscopy and biopsy, irritable bowel syndrome group(N=27) who were diagnosed by Rome II criteria and normal control group(N=22). All patients were diagnosed at outpatient department of Kyungpook National University Hospital. All these groups completed three psychological tests, including MMPI, Rorschach test, and well validated TAS-20K(The Korean Version of the 20-Item Toronto Alexithymia Scale). Results: Twenty-five percent of the ulcerative colitis group and 22% of the irritable bowel syndrome group scored in the alexithymia range, compared with 0% of the normal group. In Rorschach test, irritable bowel syndrome group showed high levels of weighted Sum C and EA. Most of clinical scales of MMPI were higher in two gastrointestinal groups than the normal control group. And two gastrointestinal groups showed low ego strength level, but there was no statistical significant difference between them. Conclusion: Two gastrointestinal groups showed high rate of alexithymia, other psychopathological profiles, and low ego strength but there was no significant difference between two groups.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Journal of Korean Medical classics
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• v.19 no.3
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• pp.432-438
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• 2006

${\ulcorner}$소문대요(素門大要)${\lrcorner}$는 한국의 이규준(李圭晙)이 편저한 중의문헌과 임상이론이 결합된 중요한 저작물이다. 이 책은 광무갑진팔년(光武甲辰八年)(1904년) 음력 3월 16일에 완성되었고, 광무병오(光武丙午)(1906년) 초여름 밀양(密陽) 금천(琴川)에서 조판간행(雕版刊行)되었다. 이 책의 저자인 석곡(石谷) 이규준(李圭晙)(1855-1923)은 경상북도 영일군 사람으로 ${\ulcorner}$소문(素問)${\lrcorner}$ 뿐만 아니라 ${\ulcorner}$영추(靈樞)${\lrcorner}$ ${\ulcorner}$상한론(傷寒論)${\lrcorner}$ ${\ulcorner}$금궤요략${\lrcorner}$ ${\ulcorner}$잡경(難經)${\lrcorner}$ ${\ulcorner}$맥경(服經)${\lrcorner}$ 및 김원사대가(金元四大家)의 저작 등에 대해서도 심도 깊은 연구를 하였다. ${\ulcorner}$소문대요(素門大要)${\lrcorner}$의 중요 공헌은 ${\ulcorner}$소문(素問)${\lrcorner}$의 중요 문장을 회집(匯集)하였을 뿐만 아니라, 이규준(李圭晙) 자신의 의학이론과 임상사상이 표현되어 있다는 것이다. 이규준(李圭晙)은 ${\ulcorner}$소문(素問)${\lrcorner}$의 여러 편(篇) 가운데 특히 ${\ulcorner}$생기통천론(生氣通天論)${\lrcorner}$의 문장을 통해 '양비급고(陽秘乃固)'의 사상을 중요시 하여, 양기(陽氣)의 작용을 강조하면서 '양상유여음상부족(陽常有餘陰常不足)'의 편면성(片面性)을 극복하였다. 이러한 과정에서 그가 제시한 이론은 바로 '부양론(扶陽論)'으로, 그는 ${\ulcorner}$내경(內經)${\lrcorner}$ 십팔권(十八卷)의 내용을 한 마디로 요약하면 '양밀급고(陽密乃固)'라고 주장하였다. 한편 그가 ${\ulcorner}$소문대요(素門大要)${\lrcorner}$를 저술하면서 저본(底本)으로 삼았던 것은 명대(明代)에 간행(刊行)된 고종덕목(顧從德本)이라고 할 수 있다. 이규준(李圭晙)은 고종덕목(顧從德本)을 저본(底本)으로 하여 ${\ulcorner}$소문(素問)${\lrcorner}$의 문장을 해석하였고, 아울러 교감(校勘)을 병행하였는데 그의 교감법(校勘法)은 일정한 판본(版本)에 근거한 것이 아니라 자신의 ${\ulcorner}$소문(素問)${\lrcorner}$ 에 대한 이해를 중심으로 교감(校勘)을 하였다. 또한 그는 훈고학 방면에서도 일정한 식견을 갖추고 있는 것으로 확인되었다. 마지막으로 ${\ulcorner}$소문대요(素門大要)${\lrcorner}$ 는 간행본(刊行本)과 수초본(手抄本)이 유행되고 있는데, 수초본(手抄本)의 경우 와전(訛傳)된 글자가 많으니 간행본(刊行本) 및 ${\ulcorner}$소문(素問)${\lrcorner}$의 원문과 대조하여 잘못된 글자를 바로잡을 필요가 있다.

• Tuberculosis and Respiratory Diseases
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• v.49 no.1
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• pp.18-29
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• 2000

호흡기 바이러스 감염은 모든 연령층의 천식에 상당한 영향을 미치는 데 영아에서 RSV는 천명을 야기하고 대부분 일시적이나 재발성 일수도 있다. 어릴 때 바이러스 감염은 면역체계 형성에 영향를 미쳐 알러지와 천식의 위험을 완하할 수있다고 한다. 또한 소아와 성인 천식에서 RV같은 감기 바이러스는 천식의 급성 증상을 유발한다. 호흡기 바이러스 감염에 대한 면역반응이, 기관지로 부터 바이러스 제거 기능외에 기도수축과 호흡기 증상에 관여한다고 한다. 이러한 변화가 일어나는 기전은 호흡기 바이러스가 proinflammatory 사이토카인과 매개체 생성을 유도하는 능력과 연관성이 있는 것 같고 이들이 상하기도 호흡기 증상 및 기도반응 변화에 관여하는 것으로 생각된다. 호흡기 바이러스 감염에 대한 면역반응을 요약하면 바이러스 감염으로 상피세포, 내피세포, 과립백혈구가 활성화되며, 상피세포는 사이토카인, 키모카인, 매개체들을 분비하여 항 면역 반응를 주도하다. 이와 같은 상피세포와 다른 기관지 세포들의 조기 활성화로 내피 세포에 유착분자 표현을 증가시켜 백혈구 동원 증가 및 혈관 투과성을 증가시켜 부종과 분비물을 증가시킨다. 바이러스 또는 바이러스 유발 사이토카인에 의해 활성화된 과립 백혈구, 대식세포, T세포들도 기도염증 증가, 기도폐쇄를 야기하고 기도반응을 증가시킨다. 세포독성 임파구에 의한 바이러스 감염세포의 분해, TGF-$\beta$ IL-10 같은 사이토카인에 의해 부분적으로 염증억제, 기도 remoldeling에 의한 기도구조의 재생등이 바이러스 감염후 기관지 기능의 지속적 변화를 결정한다. 끝으로 천식환자에서 RV 감염의 병인에 관한 기본적 문제는 RV감염이 정상인에서는 경한 증상을 나타내는 데 천식환자에서는 왜 심한 임상증상을 나타내는지 아직 완전히 밝혀지지 않았다. 항 바이러스에 대한 면역반응이 천식환자에서 손상되었는지 또는 천식환자에서 RV감염에 의한 중증의 임상증상은 어떤 다른 세포가 관여하는지? 이들에 대한 답은 기도염증이 천식에서 어떻게 조절되는지 또한 바이러스 감염에 의한 악화된 증상을 어떻게 치료할 것인가에 대한 방향을 제시해줄 것이다.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.