Genetic Analysis of 10 Unrelated Korean Families with p22-phox-deficient Chronic Granulomatous Disease: An Unusually Identical Mutation of the CYBA Gene on Jeju Island, Korea

Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 10 unrelated families and found that all patients had an identical homozygous single-base substitution of C to T in exon 1 (c.7C>T) of the CYBA gene, which was expected to result in a nonsense mutation (p.Q3X). Because Jeju Island has long been a geologically isolated region, the high prevalence of CGD on Jeju Island is presumably associated with an identical mutation inherited from a common ancestor or proband.

Comparison of the Clinical Outcomes Between Cisplatin-Chemoradiotherapy and Radiotherapy Alone in Patient with Cervical Cancer / 대한부인종양콜포스코피학회잡지

We compared the therapeutic effects of concomitant chemoradiotherapy (CRT) using cisplatin to single radiotherapy (RT) in uterine cervical cancer. 34 cases of non-operable uterine cervical cancer were reviewed retrospectively from Mar, 1993 to May, 1996 in St. Mary' s Hospital. The patients were randomly selected to compare the effects of both methods. 22 patients were included in CRT group and 12 patients in RT group. The results were as follows: 1. The decrease of tumor size was not significant (2.17 cm in CRT and 1.95 cm in RT) (p=0.61), but the number of responders of CRT group was larger than that of RT group significantly (p0.05) 3. The overall survival rate showed no difference between two groups (p>0.05). The disease-free survivals for 38 months were 17.02% in CRT and 11.36% in RT, but it was not significant (p>0.05). In conclusion, concomitant chemoradiotherapy showed better rate of response, but size of tumor decrease and tumor markers showed no difference. CRT might improve the overall survival and disease-free survival, although it was not significant in this study. The clinical significance of CRT remains to be determined in large randomized clinical trial.

The Significance of Measurement of Mullerian Inhibiting Substance in Neonates with Respiratory Distress Syndrome / 대한주산의학회잡지

OBJECTIVE: The objectives of this study were to obtain information on MIS levels in normal and RDS neonates and to investigate the relationship between the RDS prevalence and MIS level in preterm and term neonates. METHODS: Total 131 male neonates were selected randomly and they were consisted of 50 term normal neonates, 15 term neonates with RDS, 50 prematurely born normal neonates, and 16 prematurely born neonates with RDS. Total 131 female neonates were also selected like male neonates. The venous blood was collected from all subjects and measured the level of MIS using ELISA. The ANCOVA was conducted to evaluate any influence of adjusted value of gestational age and body weight on MIS level between normal neonates and neonates with RDS. RESULTS: 1) The MIS levels of female neonates were significantly lower than those of male neonates with no overlap. 2) The MIS levels of normal female neonates were not significantly different from those of female neonates with RDS. 3) There were significant negative relationships between MIS concentration and gestational age (r=-0.777, p<0.001), and birth weight(r=-0.728, p<0.001) in normal rnale neonates. 4) There were significant negative relationships between MIS concentration and gestational age (r=-0.726, p<0.001), and birth weight(r=-0.725, p<0.001) in male neonates with RDS. 5) After adjusting the value of gestational age, the MIS level of male neonates with RDS was significantly higher than that of normal male neonates(p<0.001). 6) After adjusting the value of body weight, the MIS level of male neonates with RDS was significantly higher than that of normal male neonates(p<0.001). CONCLUSION: Male neonates with RDS had higher MIS levels than normal male neonates of the same body weight or same calculated gestational age. The results of this study suggest that MIS may play a causative or important ancillary role in the sexual dimorphism that characterizes the neonatal RDS and may be used as a predictive marker of RDS in male neonates.

Comparison of Efficiency of Infection of Human Cancer Cell Lines Via Retroviral Vector System / 대한암학회지

PURPOSE: There are several reasons why retroviruses are useful as vectors for gene therapy. However, retroviral vectors also have some limitations. Research in retroviral-mediated gene transfer has struggled with low titer and transduction efficiency on certain human target cells even with the addition of polycations to enhance transduction. Efficient in vivo gene transfer with retroviral vectors will require the availability of large amounts of vector at titers higher than generally possible by most current methods. Therefore, transduction efficiency of various human cell types with retroviral vector system is very important in human gene therapy. In an effort to test the transduction efficiency of a retrovial vector in the human cancer cell lines, a retroviral vector was infected into various human cancer cell lines. MATERIALS AND METHODS: We generated retrovirus producing cell lines through transfection or infection of amphotropic packaging cell line PA317 with ecotropic retroviruses encoding bacterial lacZ gene. The amphotropic retrovirus vector was used to transduce various human cancer cell lines. RESULTS: Of eight randomly chosen G418-resistant clones generated by transfection, only two clone produced the vector at up to >10 (6) cfu/ml, while one of five clones generated by infection yielded higher-titer virus in the absence of helper virus, up to 1 X 10 (7) cfu/ml, than the transfected clones. Transduction with supernatant derived from a PA317 producer cell line has resulted in transduction levels from 1% to 15%, 5- to 60-fold lower than those analyzed in NIH3T3 cells. CONCLUSION: These findings suggest that new improved gene transfer method into human cancer cells using retroviruses is required for efficient in vivo cancer gene therapy.

A Case of Retroperitoneal Neurilemmoma Presenting as an Adnexal Mass / 대한산부인과학회잡지

Retroperitoneal neurilemmoma is relatively rare and benign tumor. We report a case of a benign retroperitoneal pelvic neurilemmoma that presented with constipation and an adnexal mass and brief review of literatures.