BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND MEHTODS: To disgnose X-linked recessive ichthyosis and detect its carrier, we have investigated distinctive gene deletion and measured gene dosage of steroid sulfatase gene by southern blot hybridization in Korean patients with X-linked recessive ichthyosis. RESULTS: Patients from 8 of 9 unrelated families exhibited deletions, if the steroid sulfatase gene. Of 6 families showing a family history compatible with X-linked recessive inheritance, One family exhibited a normal pattern of hybridization. All but one family showed deletion of steroid sulfatase gene. All three patients lacking a fami1y history of the disease exhibited gene deletions. The ratio of the steroid sulfatsse specific band density to the Factor VIII specific band density was measured in 8 obligate carriers using a laser densitometer. The average ratio exhibited by the car riers was less than half that of normal women. Conclusian: These results suggest that the X-linked recessive ichth osis patient and its carrier can also be diagnosed and detected by Southern blot hybridization of steroid sulfatase gene in Korea.
Blotting, Southern* ; Diagnosis* ; Factor VIII ; Female ; Gene Deletion ; Gene Dosage ; Humans ; Ichthyosis* ; Korea ; Skin ; Steryl-Sulfatase ; Wills

No abstract available.
Fallopian Tubes* ; Female

OBJECTIVE: This study was performed to identify the prognostic factor for survival of patients with recurrent cervical cancer. METHODS: Sixty-eight patients were diagnosed as recurrent cervical cancer at the Seoul National University Hospital from January, 1988 to December, 1998. Recurrence was defined as new evidence of tumor after 6 months of disease free survival. Retrospective analysis was done in terms of clinical features and the Cox proportional hazard model was used to identify independent variables associated with an improved survival rate. Histopathologic types were distributed as follows; squamous cell carcinoma in 70.6%, adenocarcinoma in 11.8%, adenosquamous cell carcinoma in 11.8%, and small cell carcinoma in 1.5%. Distribution of FIGO stage was as follows; stage I in 25.0%, stage II in 66.2%, and stage III in 4.4%. Sites of recurrence were as follows; central pelvic recurrence in 44.1%, pelvic side wall recurrence in 11.8%, and distant metastasis in 44.1% and the most common site of distant recurrence was extrapelvic lymph nodes (29.4%). 29.4% of recurrences were observed within the first 12 months after initial therapy, 50.0% within 2 years and 64.7% within 3 years. RESULTS: Positive rate of SCC-Ag at initial diagnosis was 45.2% with cutoff value of 2.0 ng/ml. Positive rate of SCC-Ag at the diagnosis of recurrence was 60.0%. Overall response rate to the treatment was 29.1%. Complete response rate was higher in central pelvic recurrrence than pelvic side wall recurrence and distant metastasis (P = 0.002) and also higher in normal SCC-Ag level (< or = 2.0 ng/ml) at the diagnosis of recurrence than elevated level (P = 0.032). Cumulative survival rates of 1 year after recurrence was 66.8%, 2 year 36.7%, and 5 year 18.7%. Central recurrence showed higher cumulative survival rate than pelvic side wall or distant recurrence (P = 0.029). The patients with elevated SCC-Ag level at the time of diagnosis of recurrence showed lower cumulative survival rate than those with normal SCC-Ag level (P < 0.001). Cox proportional hazard model showed that SCC-Ag elevation at the time of diagnosis of recurrence retained significant values in predicting survival(OR = 2.56; 95% CI = [1.22-5.39]; P = 0.01). CONCLUSION: SCC-Ag elevation at the diagnosis of the recurrence is a strong independent prognostic indicator for survival of patients with recurrent cervical cancer.
Adenocarcinoma ; Carcinoma, Small Cell ; Carcinoma, Squamous Cell ; Diagnosis ; Disease-Free Survival ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Proportional Hazards Models ; Recurrence ; Retrospective Studies ; Seoul ; Survival Rate ; Uterine Cervical Neoplasms*

Even though malignant potential of vaginal intraepithelial neoplasia(VaIN) may be low, the prevalence is increasing and the mean age at diagnosis is decreasing. Various treatment options have been used for the eradication of ValN, but most effective standard protocol is not present because it is a rare disease. Laser vaporization was used to treat 7 patients with VaIN diagnosed at Department of Obstetrics and Gynecology, Seoul National University Hospital between 1992 to 1996. The patients were from 40 to 70 years of age with a mean 57 of years. All patients had a history of radical or simple hysterectomy, and final pathologic diagnosis were as follows : cervical cancer(n=5), cervical intraepithelial neoplasia(n=l), leiomyoma(n=l). Vaginal intrae-pithelial neoplasia(VaIN) was identified between 4 months and 8 years after first operation. All lesions were unifocal disease and found at the upper one third of the vagina. Treatment was performed with a CO2 laser unit and colposcope. Four(57%) out of seven patients had general anesthesia for the purpose of treatment. Patients were followed up for an average of 16.8 months with regular cytologic evaluation, colposcopy and biopsy. Failure of therapy was defined as evidence of intraepithelial neoplasia in any one of these three parameters. Only one patients showed persistent disease and the others remain free of disease. The success rate of therapy was 85.7%(6/7). (continue)
Anesthesia, General ; Biopsy ; Colposcopes ; Colposcopy ; Diagnosis ; Gynecology ; Humans ; Hysterectomy ; Laser Therapy ; Lasers, Gas* ; Obstetrics ; Prevalence ; Rare Diseases ; Seoul ; Vagina ; Volatilization*

OBJECTIVE: We studied clinical characteristics of patients have endometriosis to provide basic knowledge for diagnosis, treatment, and futher study of endometriosis. METHODS: We have performed a retrospective clinical study on 163 patients diagnosed with endometriosis during laparotomy, cesarean section, laparoscopic surgery at our medical center from January, 2000 to December, 2004. RESULTS: Incidence of endometriosis was 4.38%. The more frequent occurrence was noted in the young women with low parity and in the nulliparous women. Most frequent symptom comprised dysmenorrhea and lower abdominal pain. 33.7% of patients were asymptomatic. And 82.3% of the patients were in stage III and IV. The frequent sites involved were ovaries, Cul-de sac, uterus, tubes, peritoneum and rectum in order. Frequently combind gynecologic disease were uterine myoma, benign ovarian tumor. In Stage III & IV, there are more patients, who had abnormal elevated serum CA 125 level than patients of stage I & II. CONCLUSION: Early diagnose and appropriate management of Endometriosis for young women can lowered the development of hihger stage case and it is important for fertility and better life quality.
Abdominal Pain ; Cesarean Section ; Diagnosis ; Dysmenorrhea ; Endometriosis* ; Female ; Fertility ; Genital Diseases, Female ; Humans ; Incidence ; Laparoscopy ; Laparotomy ; Leiomyoma ; Ovary ; Parity ; Peritoneum ; Pregnancy ; Quality of Life ; Rectum ; Retrospective Studies ; Uterus

Hemolytic uremic syndrome is an unusual and uncommon disease in adults but more common in children, which is defined by the triad of acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia. We report a 64-year-old man who developed hemolytic uremic syndrome after esophagectomy and esophagogastrostomy due to esophageal cancer. We treated him using continuous renal replacement therapy and plasmapheresis with large volume fresh frozen plasma transfusion for 9 days. We could not find the cause of hemolytic uremic syndrome, and so finally concluded that it is idiopathic. Bleeding continuously without a particular reason after an operation, it needs an early diagnosis and treatment with considering a possibility of the hemolytic uremic syndrome.
Acute Kidney Injury ; Adult ; Anemia, Hemolytic ; Child ; Early Diagnosis ; Esophageal Neoplasms ; Esophagectomy* ; Hemolytic-Uremic Syndrome* ; Hemorrhage ; Humans ; Middle Aged ; Plasma ; Plasmapheresis ; Renal Replacement Therapy ; Thrombocytopenia

The purpose of this study was to investigate the application of various electroretinography (ERG) to the diagnosis of inner retinal dysfunction induced by mild intraocular pressure (IOP) elevation in a rat glaucoma model. For inner retinal function measurements, available photopic ERG protocols were applied under various light conditions including monochromatic combinations, which complement conventional scotopic ERG. Three episcleral veins in the right eyes of Sprague-Dawley rats were cauterized to induce an experimental model of glaucoma, leading to mild IOP elevation. ERG responses were measured before surgery and at 1, 2, 4, and 8 weeks after cauterization. We first confirmed that the amplitude reduction in the standard photopic b-wave was almost comparable to the amplitudes of scotopic a- and b-waves in glaucomatous eyes over time. We have implemented additional photopic ERG protocols under different stimulus conditions, which consisted of a longer duration and different monochromatic combinations. Such a change in the stimulations resulted in more pronounced differences in response between the two groups. Especially in normal animals, blue stimulation on a green background produced the largest b-wave and photopic negative response (PhNR) amplitudes and caused more pronounced oscillatory potential (OP) wavelets (individual components). In glaucomatous eyes, blue stimulation on a green background significantly reduced PhNR amplitudes and abolished the robust OP components. These results, by providing the usefulness of blue on green combination, suggest the applicable photopic ERG protocol that complements the conventional ERG methods of accessing the progression of glaucomatous damage in the rat retina.
Animals ; Cautery ; Complement System Proteins ; Diagnosis ; Electroretinography ; Glaucoma* ; Intraocular Pressure ; Models, Theoretical ; Rats* ; Rats, Sprague-Dawley ; Retina* ; Retinaldehyde ; Veins

BACKGROUND: Many researchers have sought to identify safe, natural herbal extracts that exert an anti-melanogenesis effect. Cinnamomi cortex has been widely used as a herbal medicine in Asia and Europe. OBJECTIVE: To confirm the inhibitory effects of Cinnamomi cortex extract against melanogenesis and inflammation and to elucidate the underlying mechanism of these actions. METHODS: Effects of Cinnamomi cortex extract on melanin synthesis and tyrosinase activity in B16F10 melanoma cells were evaluated using an ELISA reader. Tyrosinase and MITF protein expression was determined using western blotting. Nitric oxide production in RAW 264.7 cells was measured using Griess reaction. PGE₂ was assayed with an ELISA kit. RESULTS: Cinnamomi cortex extracts inhibited melanin synthesis, tyrosinase activity, and MITF and tyrosinase expression through regulation of the ERK and CREB genes in α-MSH-induced B16 melanoma cells. In addition, Cinnamomi cortex extracts inhibited the expression of NO, PGE₂, and pro-inflammatory cytokines in lipopolysaccharide-induced RAW 264.7 cells. CONCLUSION: We suggest that Cinnamomi cortex may be a potentially useful agent for treating inflammatory skin diseases such as hyperpigmentation based on its inhibitory effects against melanin synthesis and inflammation response in vitro.
Anti-Inflammatory Agents ; Asia ; Blotting, Western ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Europe ; Herbal Medicine ; Hyperpigmentation ; In Vitro Techniques ; Inflammation ; Melanins ; Melanoma ; Melanoma, Experimental ; Microphthalmia-Associated Transcription Factor ; Monophenol Monooxygenase ; Nitric Oxide ; RAW 264.7 Cells ; Skin Diseases

No abstract available.
Injections, Intralesional ; Isotretinoin ; Triamcinolone ; Triamcinolone Acetonide

Acquired digital fibrokeratornas are uncommon, benign, acquired, firm, hyperkeratotic projectic projections, mostly arising at the finger, toe, and distal portion of extremity. We experienced a case of acquired digital fibrokeratoma arising the 4th tae in 37-year old male. Tumor mass was 2 X 1.5cm in size, round hyperkeratotic protruded mass. Histopathologically, the epidermis of the tumor showed compact hyperkeratosis, focal hypergranulosis, and irregular acanthosis. Thick collagen bundles and dilated capillaries were predominantly oriented in the direction of the longitudinal axis of the lesion. After simple excision was done, a new lesion appeared 2 months later.
Adult ; Axis, Cervical Vertebra ; Capillaries ; Collagen ; Epidermis ; Extremities ; Fingers ; Humans ; Male ; Toes