• 제목/요약/키워드: Young-onset

검색결과 1,101건 처리시간 0.033초

Leigh 증후군 환자의 임상적 생화학적 진단 (Clinical and Biochemical Diagnosis in Children with Leigh Syndrome)

  • 이선호;전미나;이현주;박대영;김세훈;이영목
    • 대한유전성대사질환학회지
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    • 제15권2호
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    • pp.72-77
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    • 2015
  • Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.

Early Detection and Successful Treatment of Vertically Transmitted Fulminant Enteroviral Infection Associated with Various Forms of Arrhythmia and Severe Hepatitis with Coagulopathy

  • Lee, So Ra;Ko, Sun Young;Yoon, So Young;Lee, Yeon Kyung;Shin, Son Moon
    • Pediatric Infection and Vaccine
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    • 제26권3호
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    • pp.199-205
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    • 2019
  • 엔테로바이러스 감염은 신생아에게 흔히 일어나며, 경한 감염에서부터 다기관 부전이나 사망에까지 이를 수 있다. 특히, 출생 시 모체로부터 수직 감염된 신생아들의 경우 심각한 질환에 이르게 될 수 있다. 본 증례의 환아는 모체에게서 엔테로바이러스의 수직 감염이 일어났으며, 파종 혈관내 응고장애, 간염, 그리고 심근염으로 빠르게 진행하였다. 환아가 태어난 시기가 엔테로바이러스의 유병률이 높은 6월인 점, 환아의 어머니와 형제에게서 고열이 있었던 점, 임상 증상 등을 고려하여 저자들은 환아가 엔테로바이러스의 수직 감염 가능성이 있다고 보고 검사와 치료를 진행하였다. 이 환아는 빈맥을 동반한 다양한 형태의 부정맥을 보였으며, 일반적인 치료에 반응을 잘 하지 않았으나, 엔테로바이러스 감염을 조기에 의심하고 치료하여 완전히 회복할 수 있었다. 신생아의 엔테로바이러스 감염에서, 응고장애를 동반한 간염과 심근염이 동시에 오는 경우는 드물다. 본 증례에서, 저자들은 응고장애를 동반한 간염과 다양한 형태의 부정맥을 동반한 엔테로바이러스 수직 감염을 조기에 진단하고 성공적으로 치료하였기에 보고하는 바이다.

한방병원 갑상선 클리닉 내원 환자들의 임상적 특성 분석 (The Analysis on Clinical Characteristics of Out-Patients of Oriental Thyroid Clinic)

  • 변상혁;김순일;강기훈;이병철;안영민;두호경;안세영
    • 대한한방내과학회지
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    • 제26권1호
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    • pp.213-220
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    • 2005
  • Objective : Thyroid diseases are one of the most common endocrine disorders. However, the first chosen-treatments including anti-thyroidal and hormone-supplement therapy in western medicines, sometimes have failed to improve abnormal thyroid hormone secretions and clinical symptoms. Therefore, there has been a growing expectation for Oriental Medicine to take the role of alternative therapy. However, there has been little analysis of clinical characteristics. In this study, clinical characteristics of thyroidal disease patients who visited Kyung-Hee oriental hospital from January to July 2004 were analyzed. Methods : A total 86 patients diagnosed as hyperthyroidism, hypothyroidism or thyroid nodule were selected. Clinical history, including sex, age, symptoms, disease duration and methods of previous therapy and thyroidal test, such as thyroid function test (TFT), thyroid scan and other thyroid examinations. Results : In distribution of onset age and sex, the patients who have visited oriental hospital with thyroidal diseases showed similar characteristics with typical patients. In clinical symptom, the most frequent clinical sign was fatigue in both hyperthyroidism and hypothyroidism, which differs from the classical characteristics of those diseases. Most patients complained the unresolved symptoms, some of which are attributable to abnormal thyroid hormone secretions, in spite of western therapy with anti-thyroidal and hormone supplement agents. Conclusions : In oriental therapy, it will be necessary to consider the unique clinical features of thyroidal diseases different from classical patterns, and this study suggests that oriental therapy is a good alternative method for patients whose first treatment with western agents failed. Furthermore, more public information to these patients about oriental medicine would be helpful to increase cure rates, and give various choices to patients with thyroid diseases.

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High Alloying Degree of Carbon Supported Pt-Ru Alloy Nanoparticles Applying Anhydrous Ethanol as a Solvent

  • Choi, Kwang-Hyun;Lee, Kug-Seung;Jeon, Tae-Yeol;Park, Hee-Young;Jung, Nam-Gee;Chung, Young-Hoon;Sung, Yung-Eun
    • Journal of Electrochemical Science and Technology
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    • 제1권1호
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    • pp.19-24
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    • 2010
  • Alloying degree is an important structural factor of PtRu catalysts for direct methanol fuel cells (DMFC). In this work, carbon supported PtRu catalysts were synthesized by reduction method using anhydrous ethanol as a solvent and $NaBH_4$ as a reducing agent. Using anhydrous ethanol as a solvent resulted in high alloying degree and good dispersion. The morphological structure and crystallanity of synthesized catalysts were characterized by X-ray diffraction (XRD), high resolution transmission electron microscope (HR-TEM). CO stripping and methanol oxidation reaction were measured. Due to high alloying degree catalyst prepared in anhydrous ethanol, exhibited low onset potential for methanol oxidation and negative peak shift of CO oxidation than commercial sample. Consequently, samples, applying ethanol as a solvent, exhibited not only enhanced CO oxidation, but also increased methanol oxidation reaction (MOR) activity compared with commercial PtRu/C (40 wt%, E-tek) and 40 wt% PtRu/C prepared in water solution.

소아의 소장 중첩증의 치료 : 자연 정복 vs 수술적 치료 (Management of Pediatric Small Bowel Intussusception: Spontaneous Reduction vs Operation)

  • 김은영;정규환;박태진;박귀원;정성은;김현영
    • Advances in pediatric surgery
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    • 제16권2호
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    • pp.117-125
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    • 2010
  • Unreduced small bowel intussusception requires operative treatment although the rate of spontaneous reduction is 60 to 70 %. The aim of this study is to compare clinical characteristics and outcome between spontaneous reduction and operation group and to analyze factors related to decisions to treat small bowel intussusceptions. The records of 25 patients with small bowel intussusceptions treated in Seoul National University Children's Hospital from January 1999 to August 2009 were reviewed respectively. Spontaneous reduction group (n=12, 48 %) had signs and symptoms of vomiting, abdominal pain, currant jelly stool, abdominal distension, fever, increased CRP but no rebound tenderness. One of them had been diagnosed with Henoch-Schonlein purpura and no one displayed pathologic leading point by image study. Operation group (n=13, 52 %) consisted of patients who had primary surgery. Their signs and symptoms were similar to spontaneous reduction group. Seven of them had underlying diseases such as Crohn' disease, ALL, Lymphoma, Peutz-Jeghers syndrome (n=3), post-transplanted state of liver and 2 of them displayed Peutz-Jeghers polyp and Meckel's diverticulum as pathologic leading point by preoperative ultrasonography. Mean relieve interval (interval between onset of symptoms and reduction/operation) was 1.78 days in spontaneous reduction group and 2.25 days in operation group (p=0.341). Seven of operation group had manual reduction and 6 out of 7 received segmental resection of the small bowel. No one of them underwent manual reduction and all of them underwent segmental resection were found to have pathologic leading points [Peutz-Jeghers polyp (n=3), Meckel's diverticulum (n=2), lymphoma (n=1)] during operation. In conclusion, 48% of small bowel intussusceptions resolved spontaneously. Patients' symptoms and relieve intervals were not related to the operative decisions. We therefore recommend significant factors for determining treatment plan such as change of clinical symptoms, underlying disease or pathologic leading point by imaging.

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Critically Ill Patients with Pandemic Influenza A/H1N1 2009 at a Medical Center in Korea

  • Choi, Eun-Young;Huh, Jin-Won;Lim, Chae-Man;Koh, Youn-Suck;Kim, Sung-Han;Choi, Sang-Ho;Kim, Won-Young;Kim, Won;Kim, Mi-Na;Hong, Sang-Bum
    • Tuberculosis and Respiratory Diseases
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    • 제70권1호
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    • pp.28-35
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    • 2011
  • Background: The aim of the study was to describe the characteristics, treatments, and outcomes of critically ill patients with pandemic Influenza A/H1N1 2009 at a major medical center in Korea. Methods: This retrospective observational study examined critically ill adult patients with pandemic Influenza A/H1N1 2009, who were admitted to the AMC between August and December 2009. Results: 27 patients with confirmed pandemic Influenza A/H1N1 2009 were admitted to the intensive care unit (ICU) at the Asan Medical Center (AMC). The median age (IQR) was 59 years (41~67), and 66.7% of the patients were older than 51 years. A total of 81.5% of the patients had 2 or more co-morbidities. The median time (IQR) from symptom onset to presentation was 2 days (1~4), and the median time from presentation to ICU admission was 0 days (0~1.5). All patients received oseltamivir (300 mg/day) and 13 patients received triple combination therapy (oseltamivir, amantadine, ribavirin). Twelve patients required mechanical ventilation on the first day of ICU admission. A total of 6 patients (22.2%) died within 28 days of admission. The patients who died had significantly higher acute physiology and chronic health evaluation (APACHE) II and sequential organ failure assessment (SOFA) scores at presentation. There were no significant differences in age, co-morbidities, or antiviral regimens between survivors and non-survivors. Conclusion: Critical illness related to pandemic Influenza A/H1N1 2009 was common in elderly patients with chronic co-morbidities. All patients were given high-dose oseltamivir or triple combination antiviral therapy. Nonetheless, patients with critical illnesses associated with pandemic Influenza A/H1N1 2009 had a death rate of 22.2%.

학동기 소아에서 반복성 복통과 우울 성향과의 관계 (The Relationship between Recurrent Abdominal Pain and Depressive Trends in School-Aged Children)

  • 안영준;문경래
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제5권2호
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    • pp.166-173
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    • 2002
  • 정도에서 흔히 볼 수 있는 증상으로, 정확한 원인을 발견할 수 없는 경우가 많다. 또한 반복성 복통이 학동기 아동에 있어 사회적, 정신적 발달에 장애를 초래할 수 있다. 이에 저자들은 반복성 복통과 정서적인 문제중 하나인 우울성향과의 연관성을 알아보고자 본 연구를 시행하였다. 방 법: 광주시내 2개 초등학교 4, 5, 6학년 학생 1,181명, 남아 566명, 여아 615명을 대상으로 반복성 복통의 유형을 평가하였으며, 우울의 정도는 한국판 Kovacs & Beck의 Children's Depression Inventory (CDI) 설문지를 이용하여 비교 분석하였다. 결 과: 1) 반복성 복통의 빈도는 총 265명(22.4%)이며 남아 107명(18.9%), 여아 158명(25.7%)으로 여아에서 의미 있게 높았고,연령별로 9세 19.8%, 10세 21.2%, 11세 26.1%, 12세 19.1%였다. 2) 반복성 복통군에서 평균 우울점수가 대조군에서 높았다. 3) 반복성 복통군에서 복통이 자주 있을수록, 다른 증상을 동반한 경우 우울점수가 유의하게 높았다. 4) 복통은 배꼽주위가 가장 많았고, 복통 양상이 쥐어 짜는 듯한, 화끈거리는 통증이 있는 경우에 우울점수가 의의 있게 높았다. 5) 반복성 복통군에서 아이의 성격이 혼자 놀기를 좋아하거나, 학교가기를 싫어하거나, 친구가 적은 경우의 우울점수가 성격이 활발하거나, 친구가 많거나, 꼼꼼한 경우보다 의미 있게 높았다. 6) 반복성 복통군에서 복통의 지속시간, 하루 중 복통의 발현시기 및 요일 사이에는 유의한 차이는 없었다. 결 론: 초등학교 아동에서 반복성 복통은 높은 유병율을 보이며, 우울점수가 대조군보다 높아 우울증과 연관성이 있음을 시사하였다 그러므로 학동기의 반복성 복통의 적절한 진단과 신속한 치료가 필요하며 치료시 정서적, 심리적 지지요법을 고려하는 것이 좋을 것으로 생각된다.

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천연 건강식품인 누에의 과거, 현재 그리고 미래 (The past, present and future of silkworm as a natural health food)

  • 김기영;고영호
    • 식품과학과 산업
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    • 제55권2호
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    • pp.154-165
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    • 2022
  • 인간이 최소 8,500년 이상 이용하고 섭취를 해온 누에는 화학물질과 공해에 매우 민감하다. 뽕나무 밭이나 누에를 키우는 잠실 근처의 농작물 재배용 밭이나 과수원에서 병해충 방제를 위해 살포한 농약이 비산 되면, 매우 적은 양의 농약이 누에의 먹이가 되는 뽕나무 잎을 오염시키거나, 잠실로 침투해도 누에 유충은 섭식을 더 이상 하지 않아서 성장을 멈추고 죽는 특징이 있다(양잠보급과, 2022). 그리고, 누에 유충은 가축 배설물에서 나는 냄새와 차량통행에서 나오는 공해 물질과 먼지에도 매우 민감하므로(양잠보급과, 2022), 정상적으로 성장한 누에는 천연식품으로 간주할 수 있다. 누에제품들에 대한 성분분석결과를 보면 5령3일 동결건조 누에 분말(권해용 등, 2019)과 홍잠 분말(Ji 등, 2016, 2017, 2019)에서는 중금속이 전혀 검출되지 않는다. 그러므로, 누에를 이용하여 제조된 제품들의 안전성은 다른 곤충식품이나 육류에 비하여 매우 높다. 하지만, 누에는 오로지 뽕 나뭇잎 만을 섭취하고, 5령 동안 전 생애 섭취하는 뽕 나뭇잎의 80% 이상을 섭취하기 때문에 단 기간 고강도의 노동이 필요하므로, 제품의 단가가 높은 단점을 가지고 있다. 이러한 문제점을 해결하기 위해서는 누에 사육에 자동화 시스템을 도입해서, 노동력 투입을 줄이면서 품질이 일정한 제품을 생산할 수 있어야 한다. 현재 선진국들은 의생명과학의 발전과 개인 위생의 증진으로 기대수명이 빠르게 늘어나고 있다. 대한민국을 포함한 많은 여러 선진국은 2030년에 기대수명이 90세를 초과할 것이라고 예측되고 있다(Kontis 등, 2017). 하지만, 65세 이상의 노인은 하나 이상의 만성질환으로 고통을 받고 있어서 기대수명(또는 기대여명)과 질병없이 건강하게 살아가는 건강수명과는 9년 내외의 차이가 나고 있다(Garmany 등, 2021). 2021년 현재 노인인구의 비율은 16.5%이지만(통계청, 2021), 노인이 사용하는 건강보험 진료비 비율은 2020년에 이미 총 진료비에서 43.4%에 도달하였다(건강보험심사평가원, 2021). 그러므로, 향후 개인과 국가의 의료비용을 절감하기 위해서는 건강수명을 늘려야 한다. 누에의 산물들은 다양한 건강증진 효과가 있고(표1과 2), 인류가 이미 8500년 이상 섭취를 하여온 대부분의 사람들에게는 부작용이 없는 식품이다. 그리고 누에 산물 중 홍잠의 경우는 동물 모델의 건강수명을 증진시켜 줌이 알려져 있으므로(Choi 등, 2017b; Mai 등, 2022; Nguyen 등, 2016; Park 등, 2022), 향후 홍잠을 이용한 새로운 제품을 개발하고 판매하여 대중화되면, 국민들의 건강수명이 증대됨으로서 의료비용의 감소를 가져오고 개인의 행복이 증진될 것이다.

벨 마비 재발 환자에 대한 임상적 고찰: 후향적 관찰연구 (Clinical study on recurrent Bell's palsy: A retrospective observational study)

  • 김민주;최현규;차현지;이영록;장현진;김소정;전주현;김영일
    • 대한한의학회지
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    • 제43권2호
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    • pp.8-26
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    • 2022
  • Objectives: This study is designed to statistically analyze characteristics, treatment effect and prognosis of patients who were treated for the recurrent Bell's palsy Methods: This study retrospectively analyzed the medical records and telephone questionnaire of 82 patients treated with the recurrent Bell's palsy at the OO Korean Medicine hospital from August 01, 2018 to July 31, 2021. Results: The lower the EQ-VAS® and HB scale before and after treatment, the higher the satisfaction with the treatment. The average of the number of days and duration of outpatient treatment for male was longer than that for female. The average number of days and duration of outpatient treatment in the group that received combined treatment was longer than that of patients who received Korean Medicine only. The higher the satisfaction of treatment, the higher the willingness to receive treatment in the event of recurrent facial palsy. HB scale after treatment was the lowest in their 40s, and the average value of HB scale after treatment tended to increase as age increased except for those in their 40s. Conclusion: This study showed that the lower the HB scale after treatment, the lower the EQ-VAS®, the higher the treatment satisfaction, and the higher the probability receiving treatment if the facial paralysis recurs. Those in their 10s to 40s showed excellent results after treatment. Comparatively, those in their 50s and above showed a little effect after treatment. Gender, affected side, history of facial palsy, season of onset, age, hypertension and diabetes had no statistically significance with recurrent Bell's palsy prognosis.

한·양방 병행치료를 시행한 뇌경색 환자의 변증지표 변화와 Scandinavian Stroke Scale의 상관관계에 대한 연구 (A Study of Correlation Between Change in Pattern Identification and Scandinavian Stroke Scale in Ischemic Stroke Patient Who had Receive Traditional Korean Medical Treatment and Conservative Treatment)

  • 여서원;김수경;이지현;심소라;박주영;조승연;박성욱;정우상;문상관;박정미;조기호;김영석;배형섭;고창남
    • 대한중풍순환신경학회지
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    • 제13권1호
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    • pp.24-32
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    • 2012
  • Object : The purpose of this study is to observe the correlation between change in pattern identification symptoms and scandinavian stroke scale in ischemic stroke patient who had receive traditional Korean medical treatment and conservative treatment. Methods : 43 subjects were recruited from patients with ischemic stroke within 30 days of onset. We chose the subjects who had at least one follow up session and had checked the score between last follow up session and first session in pattern identification and scandinavian stroke scale. We also assessed the correlation between pattern identification and scandinavian stroke scale. Results : There were significant negative correlation between pattern identification and scandinavian stroke scale in Fire-heat pattern and positive correlation in Dampness-phlegm pattern. Conclusions : This study provides evidence that collaborative treatment maybe effective in improving neurologic symptoms in ischemic stroke patients diagnosed as Fire-heat pattern. Further studies with larger scale and longer observation period, more neurologicscales scales, control group would be required.

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