• 제목/요약/키워드: JAG1

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산작약의 생약학적 연구 (Pharmacognostical Studies on the 'SanJagYag')

  • 배지영;안미정;박종희
    • 생약학회지
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    • 제41권1호
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    • pp.6-8
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    • 2010
  • Crude drug 'SanJagYag' has been used mainly as a pleurisy, abdominal pain, female disease and gastropathy. To clarify the botanical origin of SanJagYag from Korea, the anatomical characteristics of Paeonia japonica, Paeonia lactiflora and Paeonia obovata of Paeoniaceae were studied. As a result, it was clarified that SanJagYag was the root of Paeonia obovata.

Alagille 증후군에서 Jagged1 돌연변이 (Jagged1 mutation analysis in Alagille syndrome patients)

  • 고재성;양혜란;김경모;서정기
    • Clinical and Experimental Pediatrics
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    • 제49권5호
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    • pp.519-522
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    • 2006
  • 목 적 : Alagille 증후군은 간, 심장, 눈, 척추, 얼굴 모양 등 여러 장기에 이상을 일으키며 상염색체 우성으로 유전되는 질환이다. Alagille 증후군의 유전자인 JAG1은 Notch 수용체에 대한 리간드를 만든다. 이 연구의 목적은 우리나라 Alagille 증후군 환자에서 JAG1 유전자의 돌연변이를 찾아내는 것이다. 방 법 : Alagille 증후군으로 확진 받은 6명의 말초혈액 백혈구에서 DNA를 추출하여 JAG1 유전자에 대하여 중합효소연쇄 반응 및 정제 후 직접 염기서열 분석하였다. 결 과 : 2개의 새로운 frameshift 돌연변이가 발견되었다. 4세에 간세포암이 발생한 환자에서 엑손 2에서 118delC이 발견되었다. 한 환자에서는 엑손 7에서 999-1000delTG이 발견되었는데, 2개 돌연변이들은 정지코돈을 만들었다. 결 론 : 우리나라 Alagille 증후군 환자에서 단백이 잘라져 기능을 못하는 frameshift 돌연변이를 찾아내었다.

Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center

  • Ahn, Kyung Jin;Yoon, Ja Kyoung;Kim, Gi Beom;Kwon, Bo Sang;Go, Jung Min;Moon, Jin Su;Bae, Eun Jung;Noh, Chung Il
    • Clinical and Experimental Pediatrics
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    • 제58권10호
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    • pp.392-397
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    • 2015
  • Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

黃芩芍藥湯 煎湯液이 血漿Cortisol 및 鎭痛에 미치는 影響 (Effects of Hwang Keum Jag Yag Tang Water Extract on the Plasma Cortisol Concentration and in the Rabbit and on the Analgesic Effect in the Mouse)

  • 오춘근;황충연;이기남
    • 한방안이비인후피부과학회지
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    • 제3권1호
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    • pp.41-57
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    • 1990
  • In order to investigate the effects of Hwang Keum Jag Yag Tang (HJT) water extract on the plasma cortisol concentration in the rabbit and on the analgesic effect in the mouse were administered. The results were summarized as follow: 1. Intravenous administration of HJT water extract at the dose of 0.2ml/kg remarkably increased plasma cortisol concentration after two hour. 2. Intravenous administration of HJT water extract at the dose of 0.4ml/kg significantly increased plasma cortisol concentration after one hour. 3. Intravenous administration of HJT water extract at the dose of 0.2ml/kg, all the experimental period, significantly increased plasma sodium concentration. 4. Intravenous administration of HJT water extract at the dose of 0.4m1/kg significantly decreased plasma potassium concentration. 5. Intravenous administration of HJT water extract at the dose of 0.2ml/kg and 0.4ml/kg, all the experimental period, significantly decreased plasma calcium concentration. 6. The analgesic effect of HJT water extract showed inhibitory effect more than at 0.1ml/20g. According to the results, Hwang Keum Jag Yag Tang water extract remarkably increased plasma cortisol concentration and showed analgesic effect.

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Diverse renal manifestations of Alagille syndrome in Korean children

  • Jinwoon Joung;Mi Jin Kim;Heeyeon Cho
    • Childhood Kidney Diseases
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    • 제26권2호
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    • pp.80-85
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    • 2022
  • Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

  • Lee, Yoon Ha;Jeon, Yong Hyuk;Lim, Seon Hee;Ahn, Yo Han;Lee, Sang-Yun;Ko, Jung min;Ha, II-Soo;Kang, Hee Gyung
    • Journal of Genetic Medicine
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    • 제18권2호
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    • pp.142-146
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    • 2021
  • Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

Scoliodon속 어류의 1 미기록종, Scoliodon laticaudus (New Record of the Spadenose Shark, Scoliodon laticaudus (Carcharhiniformes: Carcharhinidae) from South Sea, Korea)

  • 조현근;권선만;김병직
    • 한국어류학회지
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    • 제26권4호
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    • pp.336-339
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    • 2014
  • 우리나라 남부연안에서 채집된 1개체 (전장 350.0 mm)의 표본을 근거로 흉상어과에 속하는 Scoliodon laticaudus를 한국미기록종으로 기재 보고한다. 본 종은 머리가 매우 납작한 삽모양이며 주둥이가 길고 납작한 점 가슴지느러미가 삼각형이며 제 1 등지느러미 후단이 배지느러미 중앙부분까지 도달하는 특징이 있다. 본 속과 종의 신한국명으로 각각 "납작주둥이상어속"과 "납작주둥이상어"를 제안한다.

한국 전통 이미지의 호텔용가운 디자인 개발에 관한 연구 (A Study on Design Development of the Hotel Robe Based on Korean Images)

  • 문광희;문명옥
    • 한국의류학회지
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    • 제28권1호
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    • pp.45-53
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    • 2004
  • This study was conducted to redesign hotel robes based on Korean images. Hotel robes are furnished at many Korean hotels to increase the level of their guests' satisfaction toward their hotel services. The current hotel robe has several flaws in utility and design. Also, the robes register a low level on guests' satisfaction while generating high cleaning cost. Consequently, improvements in the hotel robes' material, motifs, style, and color were needed. The current one-piece, cotton towel weave robes used in hotels are white and pale. Half of the hotel guests never wear the hotel robes during their stay, because they are unattractive and most Korean hotels provide a robe similar in design. Furthermore, these robes are undistinguishable from those found at other countries. Nevertheless, Korean hotel managers feel that the hotel robe is an important tool to express its hotel image and to increase guests' satisfaction of their services. Most hotel managers and consumers agreed that it is necessary to design hotel robes based on Korean images. They believe that redesigning the hotel robes based on Korean images would induce hotel guests to wear them and at the same time feel part of the Korean traditional culture. The Korean traditional motifs of Taegug, Un (cloud), JuJag (phoenix), and Kumkwan (gold crown) were used in the new design of the hotel robes. The style of new hotel robes is the Korean traditional Pho of the Three Kingdoms. The colors of new hotel robes are white and pink. Forty-three examiners evaluated the newly designed robes for their aesthetic, symbolic and distinctional values. They concurred that the new robes were much better than the current ones.

한국산 전갱이과 어류 1 미기록종, Caranx melampygus (First Record of the Bluefin Travelly, Caranx melampygus(Perciformes: Carangidae) from Korea)

  • 김준상;김맹진;송춘복
    • 한국어류학회지
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    • 제30권3호
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    • pp.170-174
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    • 2018
  • 농어목 전갱이과에 속하는 Caranx melampygus 1개체(표준체장 113 mm)가 2010년 8월 13일 제주도 서귀포시 대포동의 정치망에서 처음으로 채집되었다. 이 종은 형태적으로 우리나라에 서식하고 있는 줄전갱이(C. sexfasiatus)와 유사하지만 주둥이 끝이 눈의 말단을 이르지 않는 점과 주새개골의 상단에 검은 반점이 없는 것이 특징이다. 이 미기록종의 종명은 줄전갱이와 비교할 때 상대적으로 작은 입을 가지고 있어서 "작은입줄전갱이"로 제안한다.

보건소 금연클리닉 금연성공자의 1년내 재흡연과 관련요인 (Smoking Relapse and Related Factors Within One Year Among Successes of the Smoking Cessation Clinics of Public Health Centers)

  • 김미작;정인숙
    • Journal of Preventive Medicine and Public Health
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    • 제44권2호
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    • pp.84-92
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    • 2011
  • Objectives: This study aimed to investigate smoking relapse and the related factors within 1 year after discharge from the smoking cessation clinics (SCCs) of public health centers (PHCs). Methods: Data were collected with a structured questionnaire from 395 people who success fully stopped smoking at 4 SCCs in Busan between May and June 2009, and this data were analyzed by Kaplan-Meier survival curves and the Cox proportional hazard model. Results: The rate of smoking relapse within 1 year after discharge from SCCs was 39.2% and this decreased rapidly over 6 months after discharge. The factors related to smoking relapse within 1 year after discharge from SCCs were being female (HR, 2.11; 95% CI, 1.17 to 3.82), a trial of smoking cessation with any assistants (HR, 1.95; 95% CI, 1.19 to 3.19), more than 7 ppm of exhaled CO2 on the SCCs' registration (HR, 1.81; 95% CI, 1.24 to 2.64), use of pharmacotherapy after discharge from SCCs (HR, 2.00; 95% CI, 1.36 to 2.93), alcohol drinking more than once a week after discharge from SCCs (HR, 3.32; 95% CI, 2.15 to 6.78), and a perceived barrier (HR, 1.21; 95% CI, 1.14 to 1.30) after discharge from the SCCs. Conclusions: According to the results, at least 6 months follow-up after discharge from SCCs of public health centers is recommended to reduce the rate smoking relapse. It is also recommended to strengthen the education on how to overcome barriers such as drinking in the course of smoking cessation clinics.