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

BACKGROUND: There is concem about the rising incidence of skin cancer. However, few articles have reported the change in the clinical and epidemiological aspects of skin cancer. OBJECTIVE: We performed this study in order to clarifiy the recent changes in cutaneous premalignant and malignant lesions. METHODS: A statistical analysis was made using 101 cases of cutaneous premalignant lesions and 205 cases of ma]ignant tumors out of a total number of 20,175 new outpatients that visited the Department of Dermatology at the Seoul National University Hospital during a 6 year period(1990-1995). RESULTS: The frequency of premalignant lesions was 0.50% and that of malignant tumors was 1.02%. The frequency showed an increasing tendency compared to previous reports. In the premalignant lesion cases, actinic keratosis was most common and represented a figure of 82.2%. Among the malignant tumors, basal cell carcinoma was most frequent at 24.4%. Age, sex and anatomical site distribution of basal cell carcinoma, malignant melanoma was no different. The mean age of squamous cell carcinoma was greater than in previous reports and main preceding lesions were actinic keratosis and cheilitis. The frequency of lymphoma was markedly increased but the reason for this remains to be determined. CONCLUSION: Our findings showed the continous increasing incidence of skin cancers and emphasize the need for public eduacation, early diagnosis and proper treatment.
Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Cheilitis ; Dermatology ; Early Diagnosis ; Humans ; Incidence ; Keratosis, Actinic ; Lymphoma ; Melanoma ; Outpatients ; Seoul ; Skin Neoplasms ; Statistics as Topic*

No abstract available.
Dermatitis, Allergic Contact

No abstract available.
Cystadenocarcinoma, Mucinous* ; Mucins*

OBJECT: In order to estimate the frequency and risk factors for adenomyosis. METHOD: The clinical records of 1127 women undergoing hysterectomy were retrieved in the Department of Obstetrics and Gynecology, Incheon Christian Hospital, during 7 years, from Jan. 1st 1991 to Dec. 31st 1997. RESULT: The following results were obtained. 1. Adenomyosis was found in 206 of 1127 patients(18.3%). 2. The highest incidence was 41-50 years of age group, an incidence of 55% and mean age group was 46.9 years. 3. Adenomyosis was more frequently observed in parous woman than non-parous woman, such as 8.3% and 91.7%, respectively. 4. Grossly, the size of uterus was enlarged more than 10 weeks gestational size in adenomyosis, an incidence of 62.4%. 5. Pelvic pain, dysmenorrhea and metrorrhagia were common symptom of adenomyosis, an incidence of 26.7%, 25.2% and 19.4%, respectively. 6. Myoma was the most combined disease in adenomyosis, showing the incidence of 53.4%. 7. Combined pelvic endometriosis was not observed in this study. 8. Endometrial findings of adenomyosis showed proliferative phase of normal endometrial cycle in the highest incidence, giving 72.3% of all cases. 9. Preoperative diagnostic accurracy of adenomyosis was 8.2%. CONCLUSION: This results show that deeply understanding of the common symptom and epidemiology of adenomyosis improve the preoperative diagnostic accuracy.
Adenomyosis* ; Dysmenorrhea ; Endometriosis ; Epidemiology ; Female ; Gynecology ; Humans ; Hysterectomy* ; Incheon ; Incidence ; Menstrual Cycle ; Metrorrhagia ; Myoma ; Obstetrics ; Pelvic Pain ; Risk Factors ; Uterus

No abstract available.
Interleukin-4* ; Interleukins* ; Receptors, Interleukin-4* ; Rheumatic Diseases*

BACKGROUND: To determine the molecular structure of type II collagen-specific T-cell receptors associated with rheumatoid arthritis (RA). METHODS: We generated CII-specific T-cell lines of 8 RA patient s by prolonged in vitro culture with bovine CII (bCII) and the immunogenic peptide (256-270) of human CII. The proliferation response towards CII stimulation was measured from the uptake of 3 H-thymidine. Changes in the secretion of Th 1 and Th2 cytokines in the culture supernatent were measured by ELISA. The TCR clonotypes of these T-cells were examined by RT-PCR/ SSCP analyses of all 22 V beta chains. RESULTS: T-cells from patients' tissue exhibited strong proliferation index upon CII stimulation, which was maintained up to 6 months in the culture. The secretion of INF-gamma from these T-cells increased along with the duration of culture time, while the amount of IL-4 production did not show significant changes. The SSCP band patterns of patients' T-cells appear as discrete bands unlike the smeary streak produced from normal samples. Some SSCP bands, each representing selected expansion of a TCR containing certain subtype of V beta peptides, appeared to be identical in more than one patients. Among these, the expansion of SSCP band representing the V beta 14 CDR3 region persisted after switching the antigen to the immunogenic human peptide (256-270). CONCLUSION: CII-reactive T-cells expressing distinct CDR3 motifs are selectively expanded in the peripheral blood and synovial fluid of RA patients, and their persistent proliferation upon CII stimulation, as well as the production Th 1-type cytokines, may play pivotal roles in RA pathogenesis.
Arthritis, Rheumatoid* ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Humans ; Interleukin-4 ; Molecular Structure ; Peptides ; Polymorphism, Single-Stranded Conformational ; Receptors, Antigen, T-Cell ; Synovial Fluid ; T-Lymphocytes*

BACKGROUND: Obesity and visceral fat accumulation have been known as independent risk factors of cardiovascular diseases with increased risk of metabolic syndrome. Visceral fat can be accurately calculated by using CT. The purpose of this study was to investigate what anthropometric variables was the most useful predictor for visceral fat obesity and to suggest the cut-off level of abdominal visceral fat area leading to increased risk of metabolic syndrome. METHODS: The subjects were with 112 individuals who visited Hanyang University Hospital (56 men, 56 women). Abdominal fat area was calculated from CT scan done at the level of the L4 vertebra. The morbidity index for metabolic risk factor was calculated by the sum of five risk factors scores. RESULTS: The visceral fat area was significantly correlated with the waist circumference (r=0.70, P<0.01). Neither the ratio of visceral fat to subcutaneous fat nor the one to total abdominal fat was significantly correlated with any of anthropometric variables. The sagittal diameter on abdominal CT was closely correlated with the area of visceral fat and waist circumference (r=0.80, 0.79, each). The odds ratio of having the risk of metabolic syndrome was steeply increased with the abdominal visceral fat area level of 120~139 cm2 or more after adjusting for age, sex, and body mass index. The visceral fat area of 10 cm2 raised the risk of metabolic syndrome by 1.14 times (95% CI; 1.03~1.27). CONCLUSION: Waist circumference can be a relatively good parameter for predicting abdominal visceral fat area. The threshold of the likelihood of having metabolic syndrome was an abdominal visceral fat area of 120 cm2.
Abdominal Fat ; Body Mass Index ; Cardiovascular Diseases ; Humans ; Intra-Abdominal Fat* ; Male ; Obesity ; Odds Ratio ; Risk Factors ; Spine ; Subcutaneous Fat ; Tomography, X-Ray Computed ; Waist Circumference

BACKGROUND: After referral system had been established, patients wishing to consult with a specialist with 'self- referral' in mind is increasing in university hospital family medicine clinics. This study was conducted to know whether those by self-referral to a specialist in a university hospital could benefit from family physician's consultation or not. METHODS: Three hundred and sixty patients were serially assigned to either 'simple referral' group provided with a referral note without consultation or 'referral after consultation' group with consultation from a family physician. Patient satisfaction was rated by using questionnaires with 5-point Likert scale. RESULTS: Patients in the 'simple referral' group were more satisfied with the whole process of family physicians' consultation compared to the 'referral after practice' group in both the appropriateness and patient satisfaction of the consultation (both, P<0.001). Males, longer encounter time, and shorter waiting time were significantly influenced patient satisfaction compared to each counterpart. CONCLUSION: Patients who want only a referral note from a family physician in a university hospital may received some benefit from the coordination and comprehensive care by a family physician. Health delivery system should be rectified according to the consideration of the role of the primary care physician such as a family physician.
Humans ; Male ; Patient Satisfaction ; Physicians, Family ; Physicians, Primary Care ; Referral and Consultation ; Specialization ; Surveys and Questionnaires

Macrolides are frequently used in veterinary medicine as therapeutic and preventive agents for various diseases. It is difficult to determine macrolides simultaneously with conventional methods due to their similar structures. A simultaneous analysis for erythromycin, roxithromycin, tiamulin and tylosin with LC/MS has been developed. Separation was performed on C18 reversed phase column. Mobile phase was gradiently flowed with 10 mM ammonium acetate and methanol. The mass spectrometer was run in the positive mode and selective ion monitoring mode. The molecular ions were [M+H]+ form at m/z 837.5 for erythromycin, at m/z 859.5 for roxithromycin, at m/z 494.2 for tiamulin and at m/z 916.7 for tylosin. Limits of detection were in the range from 0.001 to 0.01 microgram/g lower than their MRLs.
Anti-Bacterial Agents/*analysis ; Chromatography, Liquid/*methods ; Diterpenes/*analysis ; Erythromycin/*analysis ; Mass Spectrometry/*methods ; Molecular Structure ; Roxithromycin/*analysis ; Sensitivity and Specificity ; Tylosin/*analysis ; Veterinary Medicine