OBJECTIVES: Hemophilia B has been known to result from more than 500 kinds of mutations. And it is difficult to find out a mutation specific for each family. Therefore, linkage analysis of DNA polymorphism within or near the factor IX gene has been frequently used in the clinical practice for molecular genetic diagnosis of hemophilia B. But the ethnic variation makes more difficult to apply useful markers in Caucasian population. To investigate the usefulness of the MseI and HhaI polymorphism in Korean population, we analysed the MseI and HhaI polymorphism. METHODS: Forty-five normal Korean and thirteen parents of the hemophilia B patients, using PCR and restriction enzyme analysis. RESULTS: The heterozygosity rate of MseI polymorphism was 49.7% and that of HhaI polymorphism was 25.5%. CONCLUSION: These data indicated that PCR-based analysis of MseI and HhaI polymorphism of factor IX was useful in molecular genetic diagnosis of hemophilia B in Korean population.
Diagnosis* ; DNA* ; Factor IX* ; Hemophilia A* ; Hemophilia B* ; Humans ; Molecular Biology* ; Parents ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Restriction Mapping

OBJECTIVE: The involvement of IGF system in hyperandrogenism and abnormal follicular development is controversial. This study is to assess whether IGF system contribute to it in the women with polycystic ovary(PCO). METHODS: Baseline serum levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), testosterone (T), androstenedione (ADD), prolactin, thyroid stimulating hormone (TSH), free insulin-like growth factor(IGF)-I, free IGF-II, insulin-like growth factor binding protein(IGFBP)-1, and IGFBP-3 were measured in twelve healthy regularly cycling volunteers and forty-two women with PCO then, the changes of baseline serum levels were evaluated after laparoscopic ovarian electrocauterization in nine PCO patients. In addition, the expression pattern of IGF-I and IGF-II was examined in the ovary of control and PCO group. RESULTS: Baseline levels of LH, ADD, free IGF-II, and IGFBP-3 were significantly higher in PCO group. However, there were no significant differences in the levels of free IGF-I and IGFBP-1, although free IGF-I showed decreasing tendency in PCO group. And there was a significant positive correlation between the LH and free IGF-II level in the PCO(P=0.011, r2=0.3899), but not in the control. After ovarian electrocauterization, LH, T, and ADD levels decreased, and free IGF-I and IGFBP-3 level increased. While free IGF-II and IGFBP-1 level showed no significant changes. In the ovary, expression of both IGFs showed similar pattern in normal and PCO ovaries. CONCLUSIONS: The elevated IGFBP-3 level may alter the bioavailability of IGF(s) in the PCO. The change in IGF-I level and resumption of ovulation after electrocauterization, suggest a possible role of IGF system in the impairment of follicular development in the PCO.
Androstenedione ; Biological Availability ; Carrier Proteins* ; Estradiol ; Female ; Follicle Stimulating Hormone ; Humans ; Hyperandrogenism ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Insulin-Like Growth Factor II ; Luteinizing Hormone ; Ovary* ; Ovulation ; Prolactin ; Somatomedins* ; Testosterone ; Thyrotropin ; Volunteers

Recently, laser treatment of benign prostatic hyperplasia (BPH) is considered as a promising alternative to traditional transurethral resection of the prostate (TURP). To evaluate the effectiveness and safety of laser therapy on BPH, we compared the results of transurethral balloon laser thermotherapy (TUBALT, n=13) and Hybrid laser prostatectomy (HLP, n=21) with those of TURP (n=25) in 58 patients with mild and moderate BPH. Following data were evaluated at postoperative 1, 3 and 6 months : AUA symptom score (SS), maximal flow rate (Qmax), subjective symptom improvement (SI), postoperative complications. All 3 groups show significant improvement after treatment in the Qmax values. Among 3 groups, the Qmax value was lower in TUBALT group (12.9+/-3.3 ml/sec) than those in HLP group (15.5+/-5.2 ml/sec) and TURP group (18.7+/-5.3 ml/sec) on postoperative 6 months. The Qmax values were not significantly different between HLP and TURP groups. In the SS values, all 3 groups show significant improvement after treatment and, TUBALT (9.9+/-9.7) and HLP (10.3+/-9.4) group were comparable to TURP group (5.2+/-4.2) on postoperative 6 months. In global assessment of SI, both HLP (87.5%) and TUBALT (75%) group were also comparable to TURP (90%) group on postoperative 3 months. but TUBALT group showed delayed symptom improvement compared to TURP group. Postoperative complications were minimal both in HLP and TUBALT groups, compared to TURP group. These results suggest that both HLP and TUBALT are effective in mild and moderate BPH, Further more, HLP treatment could be considered a promising alternative to TURP.
Humans ; Hyperthermia, Induced* ; Laser Therapy ; Postoperative Complications ; Prostate ; Prostatectomy* ; Prostatic Hyperplasia* ; Transurethral Resection of Prostate

Most cystic lesions of the liver are found incidentally in imaging studies because they are not symptomatic, and generally do not require treatment. Rarely, however, symptomatic hepatic cysts may develop complications and require treatment. Here, we describe a case of a 77-year-old woman who developed biliary obstruction with abdominal pain due to compression of the bile duct by a simple hepatic cyst. We confirmed the diagnosis based on symptoms and imaging studies. The patient's symptoms improved after simple cyst ablation by sclerotherapy.
Abdominal Pain ; Aged ; Bile Ducts ; Cholestasis ; Diagnosis ; Female ; Humans ; Liver* ; Sclerotherapy

We present four cases of the recently characterized chromophobe cell renal carcinoma. Gross hematuria, palpable flank mass and flank pain were the main symptoms of patients. With chromophobe cell renal carcinoma all tumors were solitary pale brown or beige colored mass, ranging from 6.0 to 10.5cm in diameter. Microscopically two cases were typical type and the other two cases were eosiophilic type. All of them showed strong reactivity for Hale's colloidal iron stain, cytokeratin and epithelial membrane antigen, but negative for vimentin. Ultrastructually characteristic invaginated microvesicles, 180-440nm in diameter, were identified in the cytoplasm. DNA ploidy studies revealed an aneuploid cell population in two cases of eosinophilic type. No patients showed recurrent tumor during the follow up periods, ranging from 5 to 92months.
Aneuploidy ; Colloids ; Cytoplasm ; DNA* ; Eosinophils ; Flank Pain ; Flow Cytometry ; Follow-Up Studies ; Hematuria ; Humans ; Iron ; Keratins ; Microscopy, Electron ; Mucin-1 ; Ploidies* ; Vimentin

OBJECTIVE: The anterior interbody fusion for cervical spine disorder may not provide adequate immediate stabilization, whereas anterior cervical spine plating has overcome this main disadvantage. Recently, several types of hardware were introduced and the complications related to these were also reported. In case of degenerative cervical spine disorders, the adequate intervertebral disc space height and lordotic curvature are the major factors for preventing recurrence of symptoms. So we used the PCB instrumentation(cervical plate cage system) for these purpose. MATERIAL AND METHOD: From April 1998 to October 1998, 16 patients with degenerative cervical spine disorders who had radiculopathy or myelopathy were underwent anterior cervical spine fusion with the PCB instrumentation(cervical plate cage system). Single level fusion was accomplished in 8 patients and two level fusion in 8. The mean follow-up period was 4 month. RESULT: All patients show some recovery at discharge. There were no hardware problems. The intervertebral disc space height and lordotic curvature were not changed during follow up. CONCLUSION: These finding suggest that PCB instrumentation can be considered to be one of the useful hardwares for anterior cervical spine fusion in degenerative cervical spine disorders.
Follow-Up Studies ; Humans ; Intervertebral Disc ; Radiculopathy ; Recurrence ; Spinal Cord Diseases ; Spine