• 대한소아치과학회지
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• 제47권1호
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• pp.93-98
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• 2020

Lesch-Nyhan 증후군은 hypoxanthine-guanine phosphoribosyl transferase 결핍으로 인해 발생한 purine 대사 장애의 열성 유전 질환이다. 이 증후군은 신경 장애, 행동 장애 및 과요산혈증(hyperuricemia) 등의 증상이 나타난다. 특징적으로 자해 습관은 2 - 3세경 시작되는데, 구강 주위 조직이나 손, 발을 물어 뜯는 양상이 나타난다. 이 증례는 2세 7개월의 Lesch-Nyhan 증후군 환아의 자해습관을 반 고정식 립 범퍼를 이용하여 차단한 증례를 보고하는 바이다. 반 고정식 립 범퍼는 전통적인 인상채득 방식을 필요로 하지 않고 내원 당일 치료해 줄 수 있는 장점이 있으며, 보호자에 의해 탈, 부착이 가능하여 환아의 구강위생 관리에 용이하였다. 장치 장착 2 개월 후, 치아 주위 조직이 회복되고 연속성이 유지되는 양호한 결과를 보였다. 장치 장착 11개월 후, 양호한 회복양상이 유지되었으며 추가적인 외상이나 자해행동의 악화는 관찰되지 않았다. 따라서, semi-fixed lip bumper는 Lesch-Nyhan syndrome 환아의 자해습관을 차단하기 위한 interim appliance로 사용하는데 유용할 것으로 사료된다.

• 대한소아치과학회지
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• 제32권2호
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• pp.306-311
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• 2005

Lesch-Nyhan 증후군은 purine의 대사장애를 보이는 질환이다. 신생아에서 대략 1:100,000 정도의 이환율을 보이는 X염색체 열성 유전 질환으로 남자에서 흔하며, purine의 대사에 관여하는 효소인 hypoxanthine guanine phosphoribosyl transferase(HGPRT)의 결손 또는 활성 감소 결과, 과도한 요산 형성 및 과요산혈증(hyperuricemia)이 일어난다. 이 질환은 임상적으로 정신지체, 무도증(choreoathetosis), 경련성 뇌성 마비, 심각한 자해 행위가 특징이다. 이 중 자해행위는 입술과 혀, 손가락을 깨무는 경우가 흔하고, 혀와 손가락이 완전히 절단될 수도 있다. 이 경우 자해로 인한 통증 뿐 아니라, 상처 부위로의 2차 감염 및 연조직 결손으로 인한 심미성이 문제가 된다. 본 증례는, 상하악 유전치의 입술 깨물기 습관에 의해 하순이 심하게 손상된 Lesch-Nyhan 증후군 환아로서, mouth guard를 이용한 보존적인 방법과 소아정신과와의 협진을 통한 신경학적 약물치료로 자해에 의한 손상을 방지하여, 단기간에 비교적 만족할 만한 결과를 얻었기에 이를 보고하는 바이다.

• 대한지역사회영양학회지
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• 제20권1호
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• pp.61-72
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• 2015

Objectives: This study was performed to examine nutrition problems and causes/contributing risk factors. Methods: This study was conducted using data 1,863 adults visited Asan health screening & promotion center located in Seoul, Korea during May to June of 2013. We used Nutrition Care Process Model developed by the International Dietetics & Nutrition Terminology (IDNT). Results: The most frequent nutrition problem in male subjects was excessive alcohol intake. Men in fifties showed the highest rate of excessive alcohol intake among the age groups examined (22.4%). By comparison, the most frequent nutrition problem in women was inadequate protein intake. Women in fifties exhibited the highest rate of inadequate protein intake (22.5%). The most common contributing factors for these observations were a low preference for dairy products followed by high preference for alcohol and a deficit in food-and nutrition-related knowledge, regardless of the sex and age. The most common nutrition problem observed among the group diagnosed with hyperglycemia or hypertriglyceridemia or hyperuricemia or fatty liver was excessive alcohol intake (p < 0.001), whereas the group diagnosed with hyperglycemia or hypercholesterolemia showed significantly higher rate of inappropriate intake of carbohydrate (fructose) compared to the group not diagnosed with such disease conditions (p < 0.05). The group diagnosed with hypercholesterolemia, hyperuricemia and fatty liver showed significantly higher occurrence of inappropriate intake of fat (saturated fat) than the group free of such diseases (p < 0.001). The osteopenia group showed higher rate of inadequate protein intake (p < 0.001) and the fatty liver group with excessive energy intake (p < 0.001). Overall, the results suggest that there is a significant relationship between nutrition problems and health conditions found in groups diagnosed with a diverse array of medical conditions. Conclusions: Therefore, we strongly suggest that dieticians should implement nutrition interventions with people visiting health screening & promotion center based on nutrition problems and the contributing factors diagnosed by dietitions in order to prevent chronic diseases in this population.

• 대한임상검사과학회지
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• 제51권1호
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• pp.50-56
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• 2019

본 연구는 성인 남성을 대상으로 체질량지수로 분류한 비만 유형에 따른 혈청 GGT와 요산농도의 차이와 관련성을 확인하고자 하였다. 2017년 1월부터 2018년 8월까지 경기지역 종합병원의 건강검진센터를 내원하여 건강검진을 실시한 20세 이상 성인 남성 14,283명을 대상으로 하였다. 비만 기준은 아시아-태평양지역 기준을 적용하였으며, 복부비만은 남성의 허리둘레 90 cm이상을 기준치로 정의하였다. 남성 대상자의 혈청 요산농도 상승은 7.0 mg/dL 이상, 혈청 GGT 상승은 56 IU/L 이상으로 정의하였다. 본 연구결과 혈청 GGT와 요산농도는 정상체중군보다 과체중과 비만군에서 높았으며, 비만군에서는 복부비만을 동반한 경우 혈청 GGT ($53.26{\pm}49.67IU/L$ vs $67.66{\pm}60.16IU/L$) 및 요산농도($6.22{\pm}1.26mg/dL$ vs $6.38{\pm}1.40mg/dL$)가 유의하게 높았다. 그러나 저체중군과는 차이가 없었다. 또한 과체중과 비만군은 정상체중군보다 혈청 GGT 상승과 고요산혈증의 위험이 높게 나타났으나, 저체중은 혈청 GGT 상승과 고요산혈증에 영향을 미치지 않는 것으로 나타났다. 따라서 성인 남성의 과체중 및 비만을 평가하는데 혈청 GGT와 요산이 유용하다고 판단된다.

• Korean Journal of Acupuncture
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• 제38권1호
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• pp.16-31
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• 2021

Objectives : The purpose of this study was to investigate the current status of clinical practice for gout in Korean Medicine (KM). Methods : On-line survey was adopted for this study, targeted at KM Doctors who were registered in the Association of Korean Medicine. The questionnaire included the general status of treatment, pattern identification and treatment method according to three stages given: acute, chronic and asymptomatic hyperuricemia stage. Results : Data from a total of 384 respondents was analyzed. Participants who responded most were in their 40s, working in KM clinics located in Seoul. Acupuncture and herbal medicines were the top priority treatments in preparing recommendations in clinical practice guidelines for gout, and where clinical trials were considered essential. As of the past year, the average number of first visits per month was 86.7%, and the average treatment duration was less than 1 month, accounting for 72.9%. As for the diagnostic method used for gout patients, the "diagnosed by clinical pattern" response was the highest, and the "blood and urine test" response was the highest as the diagnostic equipment used. As for the evaluation scale being used, the "VAS/NRS" response was the highest. Regardless of the gout stage, acupuncture was the most commonly used treatment method for gout patients, and bee venom pharmacopuncture was the highest for the pharmacopuncture used. In the case of herbal medicine, it was found that a wider variety of herbal medication uninsured in health insurance and herbal prescription were used for the staged treatment of gout than herbal medication in national health insurance coverage. In clinical practice, "acupuncture treatment three times a week" was the most common, and the "acupoints in the limb" were the most frequently used; LR3 and SP3 were the most frequently used acupoints. Conclusions : It is suggested that this survey should be helpful to develop clinical practice guideline for gout that reflects actual clinical practice.

• Journal of Yeungnam Medical Science
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• 제3권1호
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• pp.375-382
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• 1986

We studied the effects of the acute intermittent peritoneal dialysis in severe acute renal failure of 1 newborn infant and 2 young infants during 18 months period from February 1985 to April 1986. The predisposing illnesses were severe acute gastroenteritis with dehydration. Reye's syndrome, and bilateral nephrolithiasis with hyperuricemia. The concomittent illnesses were severe hypernatremia, hyponatremia, hyperkalemia, hypocalcemia, hypoglycemia, DIC(disseminated intravascular coagulopathy), paralytic ileus, metabolic acidosis and gastrointestinal bleeding. As a dialvsate, Imperinol $solution^R$, 1.5% was used in all cases. The cycles of dialysis were 8, 16, and 41 times in each cases. Observed complications during dialysis were leakage, and abdominal wall and scrotol swelling in 2 cases, hyperglycemia in 1 case, and peritonitis in 1 case. Acinetobacter calcoaceticus was cultured in peritoneal fluid of peritonitis. These complications were treated by stopping dialysis in leakage and abdiminal wall swelling, insulin therapy in hyperglycemia, and intraperitoneal and systemic antibiotics therapy in peritonitis. We experienced improvements of severe acute renal failure with variable concomittant illnesses by acute intermittent peritoneal dialysis despite of the treatable complications of dialysis in all cases.

• Journal of Microbiology and Biotechnology
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• 제25권6호
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• pp.887-892
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• 2015

Uricase is an important microbial enzyme that can be used in the clinical treatment of gout, hyperuricemia, and tumor lysis syndrome. A total of 127 clinical isolates of Pseudomonas aeruginosa were tested for uricase production. A Pseudomonas strain named Ps43 showed the highest level of native uricase enzyme expression. The open reading frame of the uricase enzyme was amplified from Ps43 and cloned into the expression vector pRSET-B. Uricase was expressed using E. coli BL21 (DE3). The ORF was sequenced and assigned GenBank Accession No. KJ718888. The nucleotide sequence analysis was identical to the coding sequence of uricase gene puuDof P. aeruginosa PAO1. We report the successful expression of P. aeruginosa uricase in Escherichia coli. E. coli showed an induced protein with a molecular mass of about 58 kDa that was confirmed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western blotting. We also established efficient protein purification using the Ni-Sepharose column with activity of the purified enzyme of 2.16 IU and a 2-fold increase in the specific activity of the pure enzyme compared with the crude enzyme.

• Journal of Yeungnam Medical Science
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• 제32권1호
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• pp.47-49
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• 2015

Sorafenib is indicated for the treatment of advanced hepatocellular carcinoma (HCC), but although rare, tumor lysis syndrome (TLS) can be fatal in HCC patients with a large tumor burden. The authors describe the case of a 55-year-old hepatitis B carrier who visited our clinic with progressive dyspnea for 3 weeks. Chest and abdominal computed tomography revealed a huge HCC in the left lobe of the liver with invasion of the inferior vena cava, right atrium, and pulmonary arteries. After 8 days of sorafenib administration, TLS was diagnosed based on the characteristic findings of hyperuricemia, hyperkalemia, and acute kidney injury with massive tumor necrosis by follow-up imaging. Despite discontinuation of sorafenib and supportive care, the patient's clinical course rapidly deteriorated. The authors describe a rare but fatal complication that occurred soon after sorafenib initiation for HCC. Careful follow-up is required after commencing sorafenib therapy for the early diagnosis and management of TLS.

• 한국식품영양학회지
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• 제29권5호
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• pp.595-604
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• 2016

It has been reported that the increased uric acid level is associated with metabolic syndrome risk factors in both male and female. However, there has not been enough studies to investigate gender differences of this association in Korea. To evaluate relation between serum uric acids and metabolic syndrome markers, anthropometric and biochemical analyses data was obtained from National Health Examination 2005 and 5,523 (M=3,097; F=2,426) data was analyzed. Results by quartile of serum uric acid levels in females showed that increased serum uric acid level was associated with elevated levels of total-. LDL-cholesterol, and triglycerides, whereas association between serum uric acid and total cholesterol levels was not observed in male subjects. In both female and male, higher quartile of serum uric acid level were linked with lower levels of HDL-cholesterol. In regression analysis, association of serum uric acid levels with fasting glucose levels was significant in female subjects only. In conclusion, higher serum uric acid levels were associated with metabolic syndrome indices, however gender differences were existed for total cholesterol.

• 대한기관식도과학회지
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• 제4권1호
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• pp.79-84
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• 1998

Benign symmetric lipomatosis was initially described in 1846 by Sir Benjamin Brodie. In 1888, Otto Madelung presented 33 cases of benign symmetric lipomatosis and described the classic“horse collar”cervical distribution of the lipomatous tissue. Launois and Bensaude described benign symmetric lipomatosis as a distint syndrome characterized by a diffuse, symmetric, fatty accumulation in the cervical region. This disease is rare condition affecting mostly middle aged alcoholic men and associated with many systemic diseases such as diabetes mellitus, hyperuricemia, renal tubular acidosis, liver enzyme abnormality etc. The condition does not spontaneously involute and surgical excision is the only proven method of treatment, and recurrence is frequent. We experienced six patients of benign symmetric lipomatosis who underwent surgical excision via collar incision which afford wide exposure of the entire cervical area. We report them with the review of literature.