• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제3권1호
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• pp.110-115
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• 2000

저자들은 비근친 부모에게서 출생하여 신생아담즙 정체증, 선천성 다발성 관절 구축증 및 원위형 신세뇨관성 산증 소견을 보인 1례의 남아 및 1례의 여아에서 ARC증후군을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권6호
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• pp.581-587
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• 2019

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

• Childhood Kidney Diseases
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• 제9권2호
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• pp.222-230
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• 2005

목 적 : ARC 증후군은 관절구축, 신세뇨관 장애 및 담즙 정체의 동반으로 진단되며, 윈인 유전자(VPS33B)가 확인 된 선천성 질환으로, 전세계적으로 41례 정도가 보고되었고, 국내 보고는 거의 없는 매우 드문 질환이다. 저자들은 신세뇨관 기능부전을 중심으로 7례의 ARC 증후군의 임상 경과를 고찰하여 본질환의 진단에 도움이 되고자 하였다. 방 법 : 1995년 3월부터 2005년 8월까지 세브란스병원에 내원한 임상적 진단기준을 만족하는 7례의 ARC 증후군을 대상으로 후향적 조사를 시행하였다. 결 과 : 대상 환아 남, 녀 비는 4:3이었으며, 출생당시 정상체중아가 6례(85$\%$), 미숙아는 1례(14$\%$)였다. 7례 모두 심한 황달을 동반하는 담즙 정체를 보였으며, Brown 등에 의한 관절구축의 분류 기준상 type III 2례, type IV 2례 type VI 1례, type VII 2례, 미분류 1례(14$\%$)였다. 기타 임상양상은 성장장애 6례(85$\%$), 늘어지고 거친 피부 5례(71$\%$), 거대혈소판 4례(57$\%$), 청력장애 2례(29$\%$)였다. 소변 검사상 단백뇨 6례(85$\%$), 혈뇨 3례(43$\%$), 당뇨 5례(71$\%$), 인산뇨 2례(29$\%$), 칼슘뇨 2례(29$\%$)였다. 전해질 검사상 저나트륨혈증 4례(57$\%$), 저칼륨혈증 3례(43$\%$)였고, 혈중 크레아틴치 상승은 1례(14$\%$)에서 관찰되었다. 신세뇨관 기능부전은 신세뇨관 산증 6례(85$\%$), 신성 요붕증 2례(29$\%$), 판코니 증후군 2례(29$\%$)로 나타났다. 치료는 단순관찰 2례(29$\%$), 지속적 전해질 보충 및 산증 교정 5례(85$\%$), 신대체요법 1례(14$\%$)였다. 가계도 분석에서 가계내 발병은 1례에서만 확인되었다. 추적관찰 결과 사망 4례(57$\%$), 생존 2례(29$\%$), 추적관찰 중단 1례(14$\%$)로 사망 환아는 평균 8.1개월에 사망하였으며, 생존 환아의 평균연령은 11.8개월이었다. 결 론 : 전세계적으로 드물게 보고되고 있는 ARC 증후군은 다양한 양상의 신세뇨관 기능 부전을 동반하고 있으나, 본 연구에서는 신세뇨관 기능 손상 정도가 상대적으로 미약하며, 생존 기간도 높은 경향을 나타내었다. 또한 국외 보고와는 달리 대상 환아의 가계 내 동일질환의 발생례가 적어 산발적인 유전자 돌연변이에 의한 발병 가능성도 있으나, 예후가 극히 불량한 본 질환의 철저한 차단을 위하여 무엇보다도 환자 발생 가계 내에서의 정확한 산전 유전자 진단이 요구되는 바이다.

• 한국식품영양과학회지
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• 제41권6호
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• pp.782-789
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• 2012

본 연구는 칡청국장 및 칡청국장 캡슐함유 식이가 체중, 지방축적, 지질대사 등에 미치는 효능을 알아보기 위하여 선천성 비만 및 인슐린 비의존성 당뇨병의 모델동물인 ob/ob 마우스를 대상으로 정상대조군(NC: 일반식이군), 양성대조군(PC: 2% 청국장함유군), 칡청국장 2% 함유군(AR: 2% 칡청국장), 칡청국장 캡슐군(ARC: 2% 칡청국장 캡슐함유)으로 나누어 10주간 실험하였다. 체중 및 식이효율은 칡청국장 캡슐군에서 정상대조군에 비하여 유의하게 감소하였다. 혈청 콜레스테롤, LDL-콜레스테롤, 중성지방, 혈당 및 동맥경화지수는 칡청국장 캡슐군에서 정상대조군에 비하여 유의하게 감소하였다. 칡청국장 캡슐군에서 지방간의 전형적인 지방축적의 억제효과를 보였다. 간조직의 SOD, CAT, GST 활성은 칡청국장 캡슐군에서 정상대조군에 비하여 유의하게 증가하였다. 이에 칡 추출물 청국장 및 캡슐형태의 투여는 지방함량의 저하효과, 혈당강하효과, 항산화계의 활성도 증가 등의 효과를 통하여 항비만기능이 있으며, 칡청국장 캡슐형의 기능성이 높다는 사실을 확인할 수 있었다.

• Korean Circulation Journal
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• 제52권4호
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• pp.324-337
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• 2022

Background and Objectives: Identifying patients with high bleeding risk (HBR) is important when making decisions for antiplatelet therapy strategy. This study evaluated the impact of ticagrelor monotherapy after 3-month dual antiplatelet therapy (DAPT) according to HBR in acute coronary syndrome (ACS) patients treated with drug eluting stents (DESs). Methods: In this post-hoc analysis of the TICO trial, HBR was defined by 2 approaches: meeting Academic Research Consortium for HBR (ARC-HBR) criteria or Predicting Bleeding Complications in Patients Undergoing Stent Implantation and Subsequent DAPT (PRECISE-DAPT) score ≥25. The primary outcome was a 3-12 months net adverse clinical event (composite of major bleeding and adverse cardiac and cerebrovascular events). Results: Of the 2,980 patients without adverse events during the first 3 months after DES implantation, 453 (15.2%) were HBR by ARC-HBR criteria and 504 (16.9%) were HBR by PRECISE-DAPT score. The primary outcome rate was higher in HBR versus non-HBR patients (by ARC-HBR criteria: hazard ratio [HR], 2.87; 95% confidence interval [CI], 1.76-4.69; p<0.001; by PRECISE-DAPT score: HR, 3.09; 95% CI, 1.92-4.98; p<0.001). Ticagrelor monotherapy after 3-month DAPT was associated with lower primary outcome rate than ticagrelor-based 12-month DAPT regardless of HBR by ARC-HBR criteria, with similar magnitudes of therapy effect for HBR and non-HBR patients (p-interaction=0.400). Results were consistent by PRECISE-DAPT score (p-interaction=0.178). Conclusions: In ACS patients treated with DESs, ticagrelor monotherapy after 3-month DAPT was associated with lower rate of adverse clinical outcomes regardless of HBR, with similar magnitudes of therapy effect between HBR and non-HBR.

• 한국동물위생학회지
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• 제37권1호
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• pp.11-18
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• 2014

Porcine reproductive and respiratory syndrome (PRRS) causes a significant economic loss in the swine industry not only in Korea but also all over the world. Andong and Hapcheon region were selected for Area Regional Control (ARC) programme to reduce the shedding of PRRS virus (PRRSV) and decrease PRRS outbreaks. Before conducting the PRRS ARC, sera of pigs were tested for both antibody using ELISA and antigen using RT-PCR, then phylogenetic classifications was analysed. Pigs of 138/275 (50.2%) in Andong and 352/425 (82.8%) in Hapcheon were seropositive. Also, the RT-PCR results revealed that 27 heads (8.2%) in Andong, 112 heads (22.0%) in Hapcheon were positive for PRRSV antigen. PRRSVs were mainly detected between the ages of 40 to 60 days. PRRSV ORF5 regions were used to determine genetic clusters based on previous report. All PRRSV type I detected in both Andong and Hapcheon were classified as Cluster I. The PRRSV type II isolates in Andong were assorted to Cluster II, whereas the PRRSV type II isolates in Hapcheon were the viruses were unassembled into any cluster except one identified to Cluster III. Phylogenetic analysis indicated that new clusters of PRRSVs type II were prevalent in Hapcheon.

• 대한한의학회지
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• 제16권2호
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• pp.44-61
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• 1995

Arranging 63 kinds of separate volumes and papers published on Oriental medicine, I could get the result as follows. 1. The herbs for internal application used commonly in vitiligo are 155 kinds totally. The herbs for external application are 67 kinds. The herbs for external and internal both application examined into 23 sorts. 2. Herbs for weakness syndrome in vitiligo are 49 kinds. Another type, excess syndrome is 105 sorts, the'latter is roughly twice as many as the former. 3. It is as follows that the results of study in relations to kinds, factors, and medical treatments of herbs about vitiligo in and out of the country with the division of former times to 1900, 1901 to 1980, 1981 to 1990, and 1991 to the latest day. In comparative study of inner and outer of thc country about factors and medical treatments of vitiligo in chronicle classification, its factors in the internal documents are classified by outside factors. Although there arc the differences of factors by each epoch, however, the factors of vitiligo according to external documents are blood stasis(血熱), deficiency of um of the liver and kidneys(肝腎陰虛), deficiency of blood(血虛), excess of exhaustion(勞倦過多) etc. Moreover, the medical treatment is more diverse and the differences by each epoch as to the medical treatment is also put down more saliantiy than in internal documents. 4. In comparison with herbs in experimental and no experimental documents, herbs applied for weakness syndromes in experimental method are 40 kinds totally. The herbs in no experimental methods are 35 kinds. The herbs used by experimental method are 65 kinds. The common herbs for excess syndrome by no experimental method are 78 kinds. We can see comparable difference from kinds of herbs used by experimental method. In brief, there are the differences classified by each epoch in Oriental medicine for treatment. Especially one of the most important feature, the frequency in use of weakness syndrome herbs has increased more than that of excess syndrome herbs. In external documents (china) and experimental study, generally the differences of common herbs and factors have disappeared through many experimentsitudy. The classification of its factors have been fractionalized clinically. Besides, in Western medicine and Orienal medicine, vitiligo tends to be prescribed not to simple skin disease but a mental and physical disease, a whole body and an internal disease.

• Journal of Preventive Medicine and Public Health
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• 제31권3호
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• pp.414-423
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• 1998

Metal fume fever has been known as an occupational disease is induced by intense inhalation of fresh metal fume with a particle size smaller than $0.5{\mu}m\;to\;1{\mu}m$. The fumes originate from heating metals beyond their boiling point, as happens, for example, in welding operations. Oxidation usually accompanies this process. In most cases, this syndrome is due to exposure to zinc oxide fumes; however, other metals like copper, magnesium, cadmium, manganese, and antimony are also reported to produce such reactions. Authors report a case of metal fume fever suspected to be associated with copper fume inhalation. The patient was a 42-year-old male and was a smoker. He conducted inert gas tungsten arc welding on copper-coated materials without safety precautions such as a protective mask and adequate ventilation. Immediately after work, he felt metallic taste in his mouth. A few hours after welding, he developed headache, chilling sensation, and chest discomfort. He also complained of myalgia, arthralgia, feverish sensation, thirst, and general weakness. Symptoms worsened after repeated copper welding on the next day and subsided gradually following two weeks. Laboratory examination showed a transient increase of neutrophil count, eosinophilia, elevated erythrocyte sedimentation rate, and positive C-reactive proteinemia. Blood and urine copper level was also increased compared to his wife. Before this episode, he experienced above complaints several times after welding with copper materials but welding of other metals did not produce any symptoms. It was suggested that copper fume would have induced metal fume fever in this case. Further investigations are needed to clarify their pathogenic mechanisms.