• Clinical and Experimental Pediatrics
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• 제53권3호
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• pp.397-407
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• 2010

목 적 : F9 유전자는 혈우병B의 병인 유전자이다. 기존의 RFLP를 이용한 연관분석은 정보제공율이 55.6%에 불과하였다. 직접 염기서열 분석법은 98%의 돌연변이를 진단할 수 있지만, 고가의 비용이 든다. 본 연구는 F9 유전자를 대상으로 돌연변이의 선별검사로써 mPCR-CSGE를 사용하고, 이후 특정 유전자 부위만을 염기서열 분석하여 mPCR-CSGE의 유용성을 확인하기 위해 고안되었다. 방 법 : 연구대상은 비혈연 관계인 27명의 혈우병B 환자였다. 직접염기서열 분석법은 독립된 다른 기관에서 시행하였고, mPCR-CSGE 선별 후 염기서열 분석법은 본 연구자의 기관에서 시행되었다. 직접 염기서열 분석법의 결과가 참고치가 되어 mPCR-CSGE 선별 후 염기서열 분석법을 정확성, 경제성, 신속성, 편이성 측면에서 비교하였다. 두가지 방법으로 진단이 되지 않는 환자에게는 MLPA를 이용하여 돌연변이를 발견하였다. 결 과 : 직접 염기서열 분석법으로 26명(96.3%)의 환자에서 돌연변이를 확인할 수 있었다. mPCR-CSGE 선별 후 염기서열 분석법으로는 23명(85.2%)의 환자에서 돌연변이를 찾아낼 수 있었다. 1명의 환자는 MLPA로써 돌연변이를 확인할 수 있었다. 27명의 환자에게 21개의 독립적인 돌연변이가 있었다. mPCR-CSGE 선별 후 염기서열 분석법은 직접 염기서열 분석법에 비해 비용은 55.7%로 줄일 수 있었으나, 실험 단계는 더욱 복잡하였고, 시간도 하루가 더 걸렸으며, 세심한 실험상의 주의가 필요하였다. 결 론 : mPCR-CSGE 선별 후 염기서열 분석법은 85.2%의 높은 돌연변이 선별력을 보이고, 직접 염기서열 분석법의 57.7%의 비용만 소모하였으나, 실험과정에 세한 주의가 요구되었으며, 노동집약적이고, 실험 시간도 하루가 더 소요되었다.

• 대한물리치료과학회지
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• 제24권2호
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• pp.53-60
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• 2017

Purpose: This study aimed to investigate the effect of physiotherapy on the range of motion (ROM) of patients with hemophilic arthropathy after total knee replacement (TKR) during treadmill gait. Method: Nineteen patients (age range, 30-61 years) who received physiotherapy at the Korea Hemophilia Foundation (KHF) Clinic in Seoul between 2011 and 2013 after TKR were recruited. Protocol rehabilitation was performed (KHF Clinic, Department of Physiotherapy) with an average follow-up of 70 days (range, 6-141 days). Result: Physiotherapy after TKR improved the ROM parameters, including the post-operative average ROM. The post-operative and follow-up ROM also significantly increased. Conclusion: Patients with hemophilia require different physiotherapeutic techniques and need dedicated post-operative care in comparison with the general population.

• 한국동물학회:학술대회논문집
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• 한국동물학회 1995년도 한국생물과학협회 학술발표대회
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• pp.338.2-338
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• 1995

No Abstract, See Full Text

• 여성건강간호학회지
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• 제14권4호
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• pp.270-277
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• 2008

Purpose: Although Hemophilia is a relatively rare hereditary disease, and is treatable with blood products, the parenting stress and guilt of hemophilic patients and their mothers are always high. This study was done to assess the extent of parenting stress, guilt, parenting attitude and parenting satisfaction of mothers with a hemophilic child. Method: The participants in this study were 119 mothers with a hemophilic child who were registered members of the Korea Hemophilia Foundation, and 287 mothers with a healthy child. In order to measure the dimensions related to parenting stress, guilt, parenting attitude and parenting satisfaction, the Questionnaire on Parenting Stress Index, Maternal Guilt Scale, Parenting Attitude Scale & Parenting Satisfaction Scale were administered. We analysed the differences between mothers with a hemophilic child and a healthy child in the questionnaire scores using the SPSS program. Result: Parenting stress and guilt of mothers with a hemophilic child were higher than with a healthy child. Parenting attitude and parenting satisfaction of mothers with a hemophilic child were lower than with a healthy child. Conclusion: The results may help medical professionals understand mothers with a hemophilic child and give basic assistance to develop a nursing intervention by exploring possible ways to alleviate such parenting stress and guilt.

• 대한약침학회지
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• 제21권2호
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• pp.76-81
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• 2018

Objective: This study compared the safety and efficacy of $Safacto^{(R)}$ versus $xyntha^{(R)}$ in patients with severe hemophilia A. Methods: Thirty-three male patients with severe hemophilia A were randomly divided into two groups. Seventeen patients received $Safacto^{(R)}$ and 16 patients received $Xyntha^{(R)}$ for four consecutive times. The dosage of FVIII was 40-50 IU/kg for each injection. Plasma level of FVIII activity was evaluated before every injection, 15 minutes after the injection and one month after the start of the trial. The rate of factor VIII activity, pain and joint motion were also assessed before and after the treatment. Results: Plasma level of FVIII clotting activity in $Safacto^{(R)}$ and $Xyntha^{(R)}$ were $1.96{\pm}0.5IU/dl$ and $1.63{\pm}0.5IU/dl$ and increased to $88.84{\pm}25.2IU/dl$ and $100.09{\pm}17.8IU/dl$, respectively (P<0.001). Pain score and range of motion improvement were $9.3{\pm}0.9$ and $8.7{\pm}0.1$ in $Safacto^{(R)}$ (P=0.17); and $9.4{\pm}0.8$ and $8.8{\pm}0.3$ in $Xyntha^{(R)}$ (P=0.35), respectively. No allergic or other unfavorable reactions was observed with either of the preparations. Conclusion: This study showed that $Safacto^{(R)}$ has a favorable efficacy and safety profile.

• BLOOD RESEARCH
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• 제53권4호
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• pp.333-334
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• 2018

• 근관절건강학회지
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• 제19권1호
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• pp.71-83
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• 2012

Purpose: The purpose of this study was to develop and evaluate the effects of Tai Chi Self-help program for Hemophilic Arthritis Patients. Method: A quasi-experimental design was used. The subjects were 48 patients who underwent orthopedic surgery (24 experimental group, 24 control group). The subjects of experimental group were participated in the Tai Chi self-help group program in which 16 times for 8 weeks. The program consisted of health education on hemophilia, Tai Chi exercise, and workshop and its outcomes have been evaluated on WOMAC(Western Ontario and McMaster scale), mobility, pain, fatigue, muscle strength, depression, and quality of life(SF-36). The obtained data were analyzed by using the t-test or Fisher's exact test of PASW 18.0. Results: 1) The score of WOMAC, pain, fatigue, and depression decreased significantly in the experimental group as compared to the control group. 2) The score of mobility, muscle strength, and quality of life increased significantly in the experimental group as compared to the control group. Conclusion: Considering these research results, the program could be useful to improve joint movement, strength and psychological condition for patient with hemophilic arthritis, particularly in those who underwent orthopedic surgery.

• Bulletin of the Korean Chemical Society
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• 제30권1호
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• pp.77-82
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• 2009

Thrombin activatable fibrinolysis inhibitor (TAFI) also known as plasma procarboxypeptidase B or U is a 60 kD glycoprotein, which is the major modulator of fibrinolysis in plasma. TAFI is a proenzyme, which is activated by proteolytic cleavage to an active carboxypeptidase B-like enzyme (TAFIa, 35.8 kD) by thrombin/thrombomodulin and plasmin. Modulation of fibrinolysis occurs when TAFIa enzymatically removes C-terminal lysine residues of partially degraded fibrin, thereby inhibiting the stimulation of tissue plasminogen activator (t-PA) modulated plasminogen activation. TAFIa undergoes a rapid conformational change at $37{^{\circ}C}$ to an inactive isoform called TAFIai. Potato tuber carboxypetidase inhibitor (PTCI) was shown to specifically bind to TAFIa as well as TAFIai. In this study, a novel immunoassay TAFIa/ai ELISA was used for quantitation of the two TAFI activation isoforms TAFIa and TAFIai. The ELISA utilizes PTCI as the capture agent and a double antibody sandwich technique for the detection. Low levels of TAFIa/ai antigen levels were detected in normal plasma and elevated levels were found in hemophilia A plasmas. TAFIa/ai antigen represents a novel marker to monitor fibrinolysis and TAFIa/ai ELISA may be a valuable assay for studying the role of TAFI in normal hemostasis and in pathological conditions.

• Archives of Plastic Surgery
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• 제34권4호
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• pp.516-519
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• 2007

Purpose: Hemophilia is one of the most common bleeding disorder, and circulating levels of factor VIII or IX are closely related to the severity and frequency of the bleeding. The severity of hemophilia is classified to be severe, moderate, and mild when the factor level is less than 1%, between 1% and 5%, and between 5% and 25%, respectively. Hemophilic pseudotumor is a rare complication occurring in 1 - 2% of patients with factor VIII or IX deficiency. If the treatment is delayed, it would cause disabling and life threatening results. Methods: We experienced hemophilic pseudotumor developed at the fracture site of the proximal phalanx of the hand in a hemophilic B patient. Hemophilic pseudotumor was successfully treated with perioperative factor replacement and surgical intervention included excision and autologous bone graft. Results: Hemophilic pseudotumor was healed with complete regression, and no specific complication was developed. Conclusion: When we accounter hematoma like lesion after surgery unpredictably, we must consider hemophilic pseudotumor and make a accurate diagnosis with preoperative hematologic screening and various imaging study. Subsequently, adequate perioperative supplement of concentrate and surgical intervention brings to the satisfactory result without recurrence.

• 한국콘텐츠학회:학술대회논문집
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• 한국콘텐츠학회 2018년도 춘계 종합학술대회 논문집
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• pp.569-570
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• 2018