• Journal of Chest Surgery
• /
• v.34 no.11
• /
• pp.831-842
• /
• 2001

Background: Patients with cardiac diseases who have structural defects in their heart bring about metabolic insult such as preoperative acid-base imbalance. Cardiac operation requires many nonphysiologic procedures such as extracorporeal circulation, hypothermia, and hemodilution. We studied the acid-base status of surgical heart diseases pre-operatively, during extracorporeal circulation, and post-operatively and researched the treatment indications of acid-base disturbances. Material and Method: From January 1997 to May 1999, fifty two cases of open heart surgery were carried out under extracorporeal circulation, which divided into a set of pediatric and adult groups, congenital and acquired groups, non-cyanotic and cyanotic groups, The $\alpha$ -stat arterial blood gas analysis was done in each group during the preoperative period, during the operation with extracorporeal circulation, and during the postoperative period. Result: Before surgery, all patients present metabolic acidosis, PaO2 was low in adult group and acquired group and compensatory respiratory alkalosis was noted in cyanotic group. During extracorporeal circulation, adult group revealed alkalosis and normal in acquired group. Pediatric group presents low Pa$CO_2$, metabolic acidosis and respiratory alkalosis. Congenital group and non-cyanotic group showed non-compensatory alkalosis trend and non-compensatory respiratory acidosis were observed in cyanotic group during extracorporeal circulation. Postoperative acid-base status of adult group was recovered to normal and the standard bicarbonate was increased in the acquired group. All of the pediatric, congenital non-cyanotic, and cyanotic groups revealed the lack of buffer base.

• Clinical and Experimental Pediatrics
• /
• v.52 no.3
• /
• pp.370-375
• /
• 2009

Purpose : The risk of metabolic syndrome (MS) and cardiovascular disease in Turner syndrome (TS) patients is high. We analyzed metabolic factors in adults with TS and evaluated the metabolic risk of insulin resistance. Methods : Forty-three adults with TS were enrolled. The frequency of MS and the values of the metabolic factors were analyzed. Patients were divided into insulin resistant and non-resistant groups according to values of homeostasis model assessment of insulin resistance (HOMA-IR). The correlations of HOMA-IR with metabolic parameters were analyzed. Results : The frequency of MS was 7% and those of each metabolic parameter were as follows: insulin resistance, 16.3%; central obesity, 15.4%; hypertriglyceridemia, 2.3%; low HDL cholesterol, 9.3%; hypertension, 36.8%. The insulin-resistant group had significantly higher values of body mass index (BMI), waist circumference (WC), fasting plasma glucose (FPG), HOMA-IR, and systolic blood pressure (SBP) than the non-resistant group (P<0.05). HOMA-IR showed a significantly positive correlation with BMI, WC, FPG, and SBP and showed a negative correlation with HDL cholesterol. Conclusion : This study suggests that adults with TS have a high risk of metabolic syndrome, and insulin resistance is correlated with metabolic factors. Therefore, TS patients should have their metabolic parameters monitored regularly to minimize metabolic complications and prevent cardiovascular diseases.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.3
• /
• pp.117-122
• /
• 2016

제1형 고셔병(Gaucher disease type 1)은 리소좀 효소인 산성 ${\beta}$-글루코시다아제(acid ${\beta}-glucosidase$)의 결핍으로 인한 리소솜 축적 질환이다. 효소 활성도가 감소되어 기질이 축적되어, 간비종대, 빈혈, 혈소판감소증 및 골질환을 포함한 전신 증상이 발생한다. 재조합 효소 단백을 정맥 주입하는 효소 대체요법(Enzyme replacement therapy)는 지난 20년 넘게 고셔병의 표준 치료법이었다. 그러나 성공적인 효소 대체요법에도 불구하고, 심각한 폐증상과 골격 증상 등 고셔병 치료에 여전히 해결되지 않는 문제들이 남아 있다. 기질 감소 치료(Substrate reduction therapy)는 기질의 생합성을 억제하여 축적을 감소시킨다. 최근 새로운 경구용 기질감소 치료제인 엘리글루스타트(eliglustat)가 적합한 CYP2D6 대사 표현형을 가진 고셔병 성인 환자를 위한 1차 치료제로 미국과 유럽에서 승인되었다. 엘리글루스타트가 아직 한국에서는 쓰이지 않고 있지만, 본 종설에서는 문헌 검토를 통해 고셔병의 새로운 치료로서의 효소 대체요법을 소개하고자 한다. 아직 확고한 결론을 도출하기에는 연구 결과가 제한적이기는 하지만, 현재까지의 데이터에 따르면 엘리글루스타트는 임상 효능에 있어서 효소 보충 요법에 비열등성을 보인다. 장기 결과에 대한 추가 연구가 필요하지만, 엘리글루스타트의 승인은 해당 1형 고셔병 성인 환자들에게 경구 치료제라는 새로운 선택을 가능하게 하였다. 향후 국내에서 엘리글루스타트가 처방 가능해 지면, 각 환자 마다 철저한 평가를 통해 치료법을 선택할 수 있도록 해야 할 것이다. 나아가, 국내 1형 고셔병 환자들을 위해 엘리글루스타트의 사용에 관한 임상적 지침 또한 조만간 개발될 필요가 있다.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.1
• /
• pp.34-41
• /
• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• The Academic Congress of Korean Shoulder and Elbow Society
• /
• 2004.11a
• /
• pp.112-116
• /
• 2004

전방 탈구인 경우 첫탈구이거나 생애에 몇번만 탈구를 경험하고 일상생활에 별 지장이 없다면 보존적으로 치료하는 것이 바람직하다. 다만 early surgey가 요구되는 경우는, 첫탈구가 teen aged이면 관절경적 수술을, 골편이 큰 Bankart병변이 있는 첫탈구는 수술하는 것이 좋다. 전방 불안정성인 경우, collision sports는 개방술로, non-athletes이거나 throwing 또는 contact sports는 관절경술로 시행해 주는 것이 바람직하다. 우리가 명심하여야 할 것은 전방 불안정성을 다루는데 환자의 입장에서 서야 한다는 것이다. 의사의 능력 정도나 욕망보다도 환자의 상태, 활동 정도와 환자의 요구에 맞추어 환자를 치료하여야 한다.

• Proceedings of the KSCN Conference
• /
• 2004.05a
• /
• pp.366-371
• /
• 2004

최근에 조사된 연구에 따르면 한국 성인 암환자의 50∼60%가 민간요법 또는 대체요법을 사용하고 있으며, 그 중 70% 정도가 효과를 보았고 부작용은 거의 경험하지 않았다고 보고하였다고 한다. 가족 및 친지, 동료환자 및 매스컴이 주된 정보원이었고, 대부분이 경제적 부담이 된다고 응답했지만 월 50만원 이상 지출하는 경우가 50% 이상이었다.(중략)

• 대한치과교정학회:학술대회논문집
• /
• 2002.11a
• /
• pp.82.3-83
• /
• 2002

• 대한치과교정학회:학술대회논문집
• /
• 1997.11a
• /
• pp.40.2-40.2
• /
• 1997

• 대한치과교정학회:학술대회논문집
• /
• 1997.11a
• /
• pp.41.1-41.1
• /
• 1997

• The Journal of the Korean dental association
• /
• v.13 no.11
• /
• pp.1063-1069
• /
• 1975