• Journal of Genetic Medicine
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• 제13권2호
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• pp.89-94
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• 2016

Purpose: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of mid-trimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. Materials and Methods: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. Results: The mean and standard deviations for FVIII and FIX activity were $45.5{\pm}30.5%$ and $19.9{\pm}12.2%$, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. Conclusion: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.

• Journal of Korean Biological Nursing Science
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• 제26권1호
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• pp.1-15
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• 2024

Purpose: This study aimed to evaluate the effectiveness of exercise in patients with hemophilia. Methods: We carried out a systematic review and meta-analysis in accordance with the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) guidelines. A literature search was conducted of published randomized controlled trials for exercise interventions from January 1, 2014 to March 15, 2023. To estimate the size of the effects of exercise, a meta-analysis was performed using the R package "meta." Results: Five databases were searched to obtain articles published in Korean or English. Of 1,150 articles reviewed, 13 were included in the systematic review and 9 in the meta-analysis. The risk of bias was assessed using RoB 2.0. The overall effect sizes of exercise interventions, calculated as the standardized mean difference, were -0.11 (95% confidence interval [CI] = -1.41 to -1.20) for pain, -2.13 (95% CI = -3.33 to -0.93) for joint health, 9.96 (95% CI = 7.51 to 12.28) for physical activity, and 0.59 (95% CI = -0.39 to -1.56) for quality of life. Conclusion: These findings suggest that exercise is useful for improving the joint health and physical activity of patients with hemophilia. Thus, it is necessary to develop and apply exercise interventions for patients with hemophilia to reduce their pain and improve their quality of life.

• 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

• 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.

• Journal of Acupuncture Research
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• 제41권
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• pp.143-148
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• 2024

A patient with sequelae of peripheral facial nerve palsy (FNP) was mainly treated with facial chuna manual therapy (FCMT) for over 6 months. The patient was diagnosed with hemophilia B and C, so invasive treatments, such as acupuncture and pharmacopuncture, were precluded. The facial nerve grading system 2.0 (FNGS) and the House-Brackmann Grading Scale (HBGS), Peitersen, Murata, Mehta, and numeric rating scale (NRS) systems were used to measure treatment effectiveness. Each scale showed improvement: FNGS, 3 to 2; HBGS, 3 to 2; Peitersen scale, 2 to 1; Murata scale, 9 to 4; Mehta scale, 14 to 1; and NRS, 8.5 to 2.5. An overall improvement was evident in facial muscle strength, particularly in synkinesis. If acupuncture and pharmacopuncture are unavailable, FCMT alone may be effective in treating FNP sequelae.

• 대한의생명과학회지
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• 제2권2호
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• pp.231-240
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• 1996

인체 혈액 응고 9인자는 간에서 생성되며 461개의 아미노산으로 구성된 당 단백질이다. 따라서 인체 혈액 응고 9인자 cDNA를 찾기 위해 태아의 간(fetal liver) cDNA library를 PCR(Polymerase Chain reaction) 방법으로 screening하였으며, 그 결과 ATG개시 코돈으로부터 TAA종료 코돈까지 포함하는 1.4 kb의 9인자 cDNA를 찾았다. 또한 클론된 9인자 cDNA를 박테리아에서 발현시키기 위해 박테리아 발현 벡터인 pGEX-2T 플라스미드에 클로닝하므로써 pGEX-F9 플라스미드를 제조하였다. pGEX-F9로 형질전환된 E. coli에서 PGEX-F9의 발현을 유도하면 73 kDa 크기의 GST-factor9 융합 단백질이 다량생성되며 , 이 단백질이 혈액 응고 9인자 단백질을 함유하는 융합 단잭질임을 혈액 응고 9인자 항체를 이용한 Western blot으로 입증하였다. E. coli에서 발현된 GST-factor 9 융합 단백질은 전체 단백질의 약 20%를 차지하며 GST agarose bead를 이용한 one step purificarion 방법을 통해 GST-factor9 융합 단백질을 쉽게 분리 할 수 있다.

• Molecules and Cells
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• 제24권1호
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• pp.125-131
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• 2007

von Willebrand factor (vWF) is a multimeric glycoprotein which functions within the coagulation system. It colocalizes with factor VIII (FVIII) by non-covalent interaction and alters its intracellular trafficking. vWF is also instrumental in maintaining the stability of secreted FVIII. The principal objective of this study was to generate a lentivirus-based vWF expression vector for gene therapy of hemophilia A. We inserted a vWF of 8.8 Kb into a lentiviral vector thereby producing VSV-G-pseudotyped vEx52. However, its titer was quite low, presumably because the length of vWF gene exceeds the size limit of the lentiviral vector. In order to overcome the low-titer, we concentrated the vEx52 and thus increased the efficiency of transduction approximately 6-fold with $1/100^{th}$ of the volume. However, as concentration requires an additional laborious step, we attempted to enhance the transduction efficiency by deleting exons 24-46 and 29-46 in pRex52 to construct pRex23 and pRex28, and in pvEx52, yielding pvEx23 and pvEx28, respectively. The transfected pRex52 had a profound effect on the activity of secreted FVIII, and this activity declined as domains of vWF were deleted. However, when the domain-deleted vWF-lentiviruses were transduced into K562 cells, the vEx28 increased the activity of the secreted FVIII compared to what was observed with vEx52. This result is probably due to higher efficiencies of transduction and expression while retaining the essential domains required for proper interaction with FVIII.