BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene). OBJECTIVE: The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families. METHODS: We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III. RESULTS: Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient. CONCLUSIONS: RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.
Albinism, Oculocutaneous* ; Alleles ; Exons ; Hair ; Humans ; Korea* ; Mass Screening ; Melanins ; Monophenol Monooxygenase ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Skin

The blue rubber bleb nevus syndrome(CRBNS) is a rare disorder characterized by distinctive vascular malformations of the skin and gastrointestinal tract. The syndrome is associated commonly with iron deficiency anemia due to gastrointestinal bleeding. Most cases are sporadic, although a few have been reported with autosomal dominant inheritance. We report a case with clinical characteristics of the blue rubber bleb nevus syndrome. The patient had typical skin manifestations of the BRBNS and chronic iron deficiency anemia. However, we could not find any gastrointestinal vascular malformations radiologically.
Anemia, Iron-Deficiency ; Blister* ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Nevus* ; Rubber* ; Skin ; Skin Manifestations ; Vascular Malformations ; Wills

BACKGROUND: Pravastatin, HMG-CoA reductase inhibitor, has been known to be the most effective drug in patients with hypercholesterolemia. We studied the effectiveness and side effects of this drug. METHODS: We studied twenty four patients(8 males, 16 females), with pravastatin 5mg bid for 8 weeks, whose fasting serum total cholesterol levels were higher than 240mg/dl on the first visit. Lipid profiles were checked at 2 weeks interval for 8 weeks and compared with baseline level individually. RESULTS: Among lipid profiles, pravastatin significantly decreased the total cholesterol from 282.8mg/dL to 224.5mg/dL(reduction rate, 21%), the LDL cholesterol from 197.2mg/dL to 143.8mg/dL(27%), the total cholesterol/HDL cholesterol ratio from 6.2 to 4.6(25%), and the LDL cholesterol/HDL cholesterol ratio from 4.1 to 2.7 (34%). These changes were statistically significant(p<0.05). Triglyceride and HDL cholesterol showed no significant changes compared to baseline levels during treatment. The clinical and laboratory findings after treatment did not show serious abnormalities except two patients who dropped out due to side effect such as constipation and skin eruption. CONCLUSION: Results from the present study show that short-term pravastatin therapy seems to be effective and safe in patients with hypercholesterolemia.
Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Constipation ; Fasting ; Humans ; Hypercholesterolemia ; Hyperlipidemias* ; Male ; Oxidoreductases ; Pravastatin* ; Skin ; Triglycerides

Endometrial papillary serous carcinoma (EPSC) is a distinct variant of endometrial adenocarcinoma that histologically resembles ovarian serous papillary adenocarcinoma and has an aggressive clinical course. Usually, the tumor is diagnosed at the advanced stage. The tumor has well confused with metastatic ovarian tumor of identical histology. Dignosis of EPSC should be considered when the cervico-vaginal smear reveals numerous papillary clusters of tumor cells with macronucleoli and psammoma bodies. Recently, we have experienced two cases of EPSC diagnosed on cervico-vaginal smears, which revealed characteristic cytologic features including numerous papillary clusters of tumor cells with macronucleoli. The cytologic diagnoses were confirmed on histologic sections.
Adenocarcinoma ; Adenocarcinoma, Papillary ; Diagnosis ; Polycystic Kidney, Autosomal Recessive*

BACKGROUND: The severity of several chronic inflammatory diseases was reported to be associated with polymorphism of the IL-1 receptor antagonist gene(IL-lrn). OBJECTIVE: This study was performed to study the polymorphism of the IL-1rn in vitiligo and in the normal Korean population. METHODS: Thirty one cases of vitiligo and seventy nine normal Koreans as control were studied for the polymorphism of IL-1 rn. RESULTS: The frequency of allele 2 of the IL- I rn in 31 patients with vitiligo was compared with that of the 79 healthy controls. The frequency of allele 2 was 1.6% in vitiligo patients and 3.8% in the normal controls. CONCLUSION: There was no significant difference in the frequency of allele 2 between the vitiligo patients and normal controls.
Alleles ; Humans ; Interleukin-1* ; Vitiligo*

The investigation of systolic time intervals and hemodynamics was performed in 42 patients with liver cirrhosis by noninvascive methods. The patients were divided into four groups according to the presence or absence of anemia and/or ascites: i.e. group I; cirrhosis without anemia and ascites, group II; cirrhosis with ascites only, group III; cirrhosis with anemia only, and group IV; cirrhosis with ascites and anemia. In the resting state of the patients, the systolic time intervals and hemodynamic data were measured by the high speed simultaneous recordings of electrocardiogram, phonocardiogram, carotid and femoral arterial pulse tracings, and compared with those obtained from 155 normal adult subjects. 1. The pulse were increased considerably in group IV, and diastolic blood pressure was elevated in group II with significance. 2. The stroke volume and cardiac output were increased significantly in group III. 3. The peripheral resistance was reduced particularly in group III, and the volume elasticit coefficient was decreased in group IV. 4. The QS1 interval was prolonged significantly in group II and IV, but QS1 interval corrected by multiple regression equation proposed by our laboratory (illustrated in the text) did not show significant difference compared with that of normal subjects. 5. The left ventricular ejection time(LVET) and total electromechanical systole(QS 2) appeared to be shortened in group II and IV, but the corrected LVET and QS 2 were not different significantly from those of the normal subjects
Adult ; Anemia ; Ascites ; Blood Pressure ; Cardiac Output ; Electrocardiography ; Fibrosis ; Hemodynamics* ; Humans ; Liver Cirrhosis* ; Liver* ; Stroke Volume ; Systole ; Vascular Resistance

The investigation of systolic time intervals and hemodynamics was performed in 42 patients with liver cirrhosis by noninvascive methods. The patients were divided into four groups according to the presence or absence of anemia and/or ascites: i.e. group I; cirrhosis without anemia and ascites, group II; cirrhosis with ascites only, group III; cirrhosis with anemia only, and group IV; cirrhosis with ascites and anemia. In the resting state of the patients, the systolic time intervals and hemodynamic data were measured by the high speed simultaneous recordings of electrocardiogram, phonocardiogram, carotid and femoral arterial pulse tracings, and compared with those obtained from 155 normal adult subjects. 1. The pulse were increased considerably in group IV, and diastolic blood pressure was elevated in group II with significance. 2. The stroke volume and cardiac output were increased significantly in group III. 3. The peripheral resistance was reduced particularly in group III, and the volume elasticit coefficient was decreased in group IV. 4. The QS1 interval was prolonged significantly in group II and IV, but QS1 interval corrected by multiple regression equation proposed by our laboratory (illustrated in the text) did not show significant difference compared with that of normal subjects. 5. The left ventricular ejection time(LVET) and total electromechanical systole(QS 2) appeared to be shortened in group II and IV, but the corrected LVET and QS 2 were not different significantly from those of the normal subjects
Adult ; Anemia ; Ascites ; Blood Pressure ; Cardiac Output ; Electrocardiography ; Fibrosis ; Hemodynamics* ; Humans ; Liver Cirrhosis* ; Liver* ; Stroke Volume ; Systole ; Vascular Resistance

BACKGROUND: The importance of the determination of cell viability has prompted the development of several assays of viability that utilize the exclusion of certain dyes by viable cell membranes. Recently, flow cytometry has been adapted to estimate cell viability by using fluorescent dye which is excluded by living cells on the basis of altered dead cell properties. OBJECTIVE: We have developed a flow Cytometric method for measuring cell viability after staining with propidium iodide (PI) and have compared it with the classical colorimetric method, MTT assay, which is currently widely used in cytotoxicity assays in the research field. METHODS: We performed flow cytometry and MTT assay for the comparison of the sensitivity of the assessment of cell viability. RESULTS: Decrease of cell viability was measured by flow cytometry with the addition of as little as 0.002% Triton-X 100 in comparison to MTT assay which could only reveal a similar decrease of cell viability with the new method to 0.008% Triton-X 100. CONCLUSION: Our results demonstrate this new method to be more sensitive and simple for the assessment of cell viability.
Cell Membrane ; Cell Survival* ; Coloring Agents ; Flow Cytometry ; Methods* ; Propidium*

BACKGROUND: Osteoarthritis(OA) has become one of the most important medical problem among the old age because it causes severe functional disability, but, up to date, the therapeutic methods for OA have not been so satisfactory to the patients with OA. Authors have investigated the effectiveness of intramuscular stimulation(IMS) therapy as an substitutive therapy for the relief of pain and dysfunction in patients with OA of the knee. METHODS: Eighteen patients who had visited the department of family medicine, Korea university anam hospital, with symptomatic OA of the knee during the period from March 1 to May 31. 2001 were included in this study and treated with IMS therapy on the quadriceps and hamstring muscles four times during two weeks. Patients self-scored Korean Western Ontario and McMaster universities Osteoarthritis Index (KWOMAC) at baseline and after the last therapy. The result was analysed by paired t-test and ANOVA. RESULT: Patients improved on KWOMAC scales for pain, stiffness, function and total scores after IMS therapy(p<0.05). The demographic characteristics such as body mass index (BML), duration of disease, affected site, radiologic finding did not have influence on the result of this study. No adverse effects of IMS therapy were reported. CONCLUSION: In this study, the improvement of pain, stiffness, and function of knee joint after treatment was reported. This study suggest that IMS is an effective and safe substitutive therapy for patients with OA of Knee.
Body Mass Index ; Humans ; Knee Joint* ; Knee* ; Korea ; Muscles ; Ontario ; Osteoarthritis* ; Weights and Measures

PURPOSE: To determine the usefulness of three-dimensional CT angiography using multidetector-row CT (MDCT) for delineating the arterial anatomy of the liver. MATERIALS AND METHODS: Hepatic arterial three-dimensional CT angiography was performed using MDCT (Lightspeed Qx/I; GE Medical Systems, Milwaukee, Wis., U.S.A.) in 45 patients with HCC undergoing conventional angiography for transcatheter hepatic arterial chemoembolization. The scanning parameters during the early arterial phase were 2.5 mm slice thickness, 7.5 mm rotation of table speed, and a pitch of 3. Images were obtained by one radiologist using maximum intensity projection from axial CT images obtained during the early arterial phase. Two radiologists blinded to the findings of conventional angiography independently evaluated the hepatic arterial anatomy and the quality of the images obtained. RESULTS: Compared with conventional angiography, reader A correctly evaluated the hepatic arterial anatomy depicted at three-dimensional CT angiography. Reader B's evaluation was correct in 40 of 45 patients. Interobserver agreement was good (kappa value, 0.73), and both readers assessed the quality of three-dimensional CT angiography as excellent. CONCLUSION: Three-dimensional CT angiography using MDCT was accurate for delineating the arterial anatomy of the liver, and interobserver agreement was good. The modality may provide, prior to conventional angiography, valuable information regarding a patient's hepatic arterial anatomy.
Angiography* ; Hepatic Artery* ; Humans ; Liver