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국내 Fabry disease 환자의 a-Galatosidase A 유전자 돌연변이 검색
박기범,최지혜,강윤성,김선미,정향민,문영준,이광호 中央大學校 基礎科學硏究所 2001 基礎科學硏究所 論文集 Vol.15 No.-
Fabry disease(FD) is an X-linked recessive lysosomal disorder caused by a deficiency of a-galactosidase A(a-Gal A), localized at Xq22. Besides onset of pain and paresthesias in the extremities, FD was diagnosed by absence of a-Gal A activity. In this experiment the a-Gal A activity of Korean FD patients was spectrometrically analysed using an artificial substate, 4-Mrthylumbellifery1-a-D-galactoside. As expected, no a-Gal A activity was detected in lymphocytes and lymphoblastoid cells from FD patients. To screen the mutation in their a-Gal A genes, we performed single strand conformation polymorphism(SSCP) and PCR-direct sequencing form seven a-Gal A exons. The nonsense mutation was identified both in classically affected hemyzygotes and a heterozygote. They showed the C to T transition at nucleotide number 11,002, resulting in a arginine-to-stop(R342X). This result will be applicable for pre- and neonatal detection of FD and to define the genotype/phenotype correlation.
박히준,채윤병,차웅석,박종배,이혜정,이향숙,인창식,고형균,김수영,최일환,김강식,문정배,배기태,유경환,육근영,정병주,손인철,임사비나 WHO COLLABORATING CENTRE FOR TRADITIONAL MEDICINE 2004 東西醫學硏究所 論文集 Vol.2004 No.-
Background : The cun measurement System, an essential and convenient method in locating acupoints, has been widely used in the practice of acupuncture. However, traditional cun measurement has been criticized for its lack of reliability. Objectives : The purposes of this study are to determine if one cun measured by the directional methods have a consistency with that of proportional methods and to investigate which factors are related with these differences, especially in forearm. Methods : The distance between the elbow crease and the wrist crease of forearm was compared to a reference value of one cun obtained by the directional method. In this method, one cun is one third of the distance between index finger and Small finger of a subject, measured at proximal interphalangeal joint. In addition, to investigate the factors influencing the differences between these two methods, we measured the height and body weight and calculated body mass index (BMI). Finally we analyzed the factors correlated with these lengths by linear regression test. Results : The results showed that one cun obtained by the directional methods were significantly different from one cun by the proportional methods in forearm. It was demonstrated that the length acquired with the directional method was more correlated with body weight and body mass index, while the length obtained by the proportional method was more correlated with the height.
Eethyl benezylidencyanoacetate 유도체에 대한 thiophenol 첨가 반응의 속도론적 연구
朴茂淳,金文執,崔元植,黃善岩,孟柱煬 순천향대학교 1991 논문집 Vol.14 No.1
Reaction of benzaldehyde derivatives with ethylacetate afforded ethylbenzylidenecyanoacetate. Especially, the crystal structure of ethyl p-methoxybenzylidenecyanoacetate were demonstrated by X-ray diffrection method. The crystal structure is only exist in E-form. The kinetic studies on the mechanism of nucleophilic addition of thiophenol to ethyl benzylidenecyanoacetate have been investigated by UV-spectrophotomery and the rate equation which can be applied over wide pH range was obtained. From the rate equation, effect of generalbase and substituent, the fellowing reaction proposed. Below pH 3.0, thiophenol added to the double bond, while above pH9.0 thiophenoxide ion added to the double bond. In the range of pH from 3.0 to 9.0, these reaction occurred competitively.
김향숙,정윤석,조준필,박문성,배기수 대한응급의학회 1999 대한응급의학회지 Vol.10 No.4
Back Ground : Hypothermia is a condition that can lead to serious complications and even to death in newborn. Although the temperature control is essential in neonatal care, it is often neglected during urgent transfer from local private hospitals. The purpose of this study is to evaluate the incidence and clinical outcomes of transfer induced neonatal hypothermia. Subjects and Method : In this retrospective study, subject is limited to transferred outborn babies with age less than 27 hours from June 1996 to May 1999. A total of 3,086 patients were admitted in NICU during the study period and inborn and outborn babies were 1,743(56%) and 1,343(44%) respectively. Among the 1,343 outborn babies, 212 babies were transferred from the private hospital within 24 hours of birth and were eligible for the study. Rectal temperature on arrival, transfer time, birth weight, gestational age, initial arterial gas study, and clinical outcome were compared. Statistical analysis has been done with chi-sqaure test and multiple logistic regression analysis. Results : There were 84 cases(39.6%) hypothermia(<36℃) among the 212 babies and the rate of hypothermia in transfered babies have not decreased over the study period. There were significantly more hypothermia in lower gestational age (less than 28 weeks) and lower birth weight (less than 2,000gm) caused hypothermia significantly more than normal gestational age or normal range of birth weight. And time interval (less than 12 hour) from birth to arrival at emergency department was also significant factor in hypothermia. The mortality rate was three fold higher in hypothermia than normothermic or hyperthermic babies. Conclusion: This study shows that hypothermia during neonate transportation is a major cause of neonatal mortality and morbidity in prehopital care. Body temperature control during transport of neonates under 24 hours of age should be emphasized for the better outcome of treatment.
신증후군, 단클론성 감마병증 및 다발성 골용해 병변으로 발현한 소형 림프구성 림프종 1예
유준호,안명주,김호중,이웅수,박용욱,박문향 한양대학교 의과대학 1999 한양의대 학술지 Vol.19 No.2
We reported here a 70-year-old woman with small lymphocytic lymphoma who was initially presented with recurrent nephrotic syndrome and later developed multiple bone lytic lesions and monoclonal gammopathy, mimicking plasma cell dyscrasia and only involving bone marrow without lymphadenopathy or hepatosplenomegaly. She responded to combination chemotherapy, including cyclophosphamide and prednisone with proteinuria disappearing. The unusual features of this case includes : (1) nephrotic syndrome of minimal change lesion as the initial manifestion in lymphocytic lymphoma, (2) only bone marrow involvement of lymphoma without organomegaly or lymphadenopathy, (3) the presence of multiple bone lytic lesions in conjunction with monoclonal gammopathy in a patient with lymphoma rather than multiple myeloma.
비강 및 비인두에 발생한 도립유두종과 편평상피암종의 p53단백 및 세포증식능에 관한 연구
한주호,윤기중,이재규,신대균,박근호,조향정,문형배 圓光大學校 醫科學硏究所 1996 圓光醫科學 Vol.12 No.2
The inverted papilloma and squamous cell carcinoma are common neoplasia in the sinonasal cavity and nasopharynx, but the incidence of these tumors are very low and the study on the oncogenesis or biological activity of the tumor cells are not well known. This study was designed to evaluate the oncogenic roles of the p53 gene and the proliferative activity of the tumor cells in the inflammatory polyp, inverted papilloma and squamous cell carcinoma. The experiment was carried by the immunohistochemical stains about the p53 protein, PCNA and Ki-67, histochemical stain about the AgNORs. and flow cytometric analysis about the DNA ploidy using the formalin fixed paraffin embedded tissues. The frequency of the expression of p53 protein was 0%(0/16 cases) in the inflammatory polyps, 18.8% (3/16 cases) in the inverted papillomas, and 87.5%(14/16 cases) in the squamous cell carcinomas. The labelling index(%) of the PCNA and Ki-67 was 5.3% and 3.3% in the inflammatoy polyps, 29.6% and 25.2% in the inverted papillomas, and 51.9% and 36.8% in the squamous cell carcinoma. The expression of the PCNA and Ki-67 was distributed in the periphery of the tumor islands of the inverted papilloma and was distributed in the both of center and periphery of the tumor islands of the squamous cell carcinoma. The number of nuclear AgNORs was increased in the order of inflammatory polyps (0.96), inverted papillomas(1.34) and squamous cell carcinoma(2.09). The frequency of the DNA aneuploidy was 0%(0/16 cases) in the inflammatory polyps, 18.8%(3/16 cases) in the inverted papillomas. and 12.5%(2/16 cases) in the squamous cell carcinomas. Above results indicates that the changes of the p53 gene and proliferative activity of the tumor cells are involved on the oncogenesis and the biological activity of the inverted papilloma or squamous cell carcinoma in the nasopharynx and sinonasa cavity.