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: 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*

No abstract available.
Carcinoma, Squamous Cell ; Esophageal Neoplasms ; Neoplasm Metastasis

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*

The avulsion fracture of calcaneal apophysis by Achilles tendon in children is quite rare. It may occur with the injury of the apophysis on the calcaneal tuberosity in the children below the age of 12 to 15 before the union of the apophysis. The authors surgically treated a 14-year-old gymnast with the avulsion fracture of the calcaneal tuberosity who injured at the landing of the floor exercise. Radiographs at the fourteen months of follow-up showed slight irregularity of the calcaneal tuberosity but there were no pain or limitation of activity. We report a case with the review of literatures.
Achilles Tendon ; Adolescent ; Calcaneus ; Child ; Floors and Floorcoverings ; Follow-Up Studies ; Humans

BACKGROUND: The prevalence and clinical characteristics of psoriatic arthritis (PsA) in patients with psoriasis are not well described in Asian populations, including Koreans. OBJECTIVE: The purpose of this study was to investigate the prevalence of PsA by using the classification of psoriatic arthritis (CASPAR) criteria on the basis of physical examination only, as well as its correlation with psoriasis severity and other medical conditions including nail psoriasis. METHODS: A single-center, cross-sectional observational cohort study was conducted, and the included patients were evaluated for PsA according to the CASPAR criteria. The psoriasis area severity index (PASI) and the nail psoriasis severity index (NAPSI) were calculated. RESULTS: The prevalence of PsA in patients with psoriasis in Korea was 13.5%. When performing logistic regression, hyperlipidemia and localized pustular psoriasis were found to be significant predictors of PsA. The PASI score was significantly higher in PsA patients than in those with psoriasis alone (p=0.014). Psoriatic nail involvement was found in 85.5% of the study population, and all PsA patients had nail psoriasis. The mean NAPSI score was higher in patients with PsA; however, the difference was not statistically significant. CONCLUSION: There was a close relation between psoriasis severity and PsA, although nail psoriasis severity was not related to PsA status. Dermatologists can diagnose PsA from current physical findings by using the CASPAR criteria. To validate the CASPAR criteria for PsA diagnosis, the definition of nail psoriasis clinical types and severity in the CASPAR criteria should be reviewed again.
Arthritis, Psoriatic* ; Asian Continental Ancestry Group ; Classification ; Cohort Studies ; Dermatology* ; Diagnosis ; Humans ; Hyperlipidemias ; Korea ; Logistic Models ; Physical Examination ; Prevalence ; Psoriasis

BACKGROUND: The prevalence and clinical characteristics of psoriatic arthritis (PsA) in patients with psoriasis are not well described in Asian populations, including Koreans. OBJECTIVE: The purpose of this study was to investigate the prevalence of PsA by using the classification of psoriatic arthritis (CASPAR) criteria on the basis of physical examination only, as well as its correlation with psoriasis severity and other medical conditions including nail psoriasis. METHODS: A single-center, cross-sectional observational cohort study was conducted, and the included patients were evaluated for PsA according to the CASPAR criteria. The psoriasis area severity index (PASI) and the nail psoriasis severity index (NAPSI) were calculated. RESULTS: The prevalence of PsA in patients with psoriasis in Korea was 13.5%. When performing logistic regression, hyperlipidemia and localized pustular psoriasis were found to be significant predictors of PsA. The PASI score was significantly higher in PsA patients than in those with psoriasis alone (p=0.014). Psoriatic nail involvement was found in 85.5% of the study population, and all PsA patients had nail psoriasis. The mean NAPSI score was higher in patients with PsA; however, the difference was not statistically significant. CONCLUSION: There was a close relation between psoriasis severity and PsA, although nail psoriasis severity was not related to PsA status. Dermatologists can diagnose PsA from current physical findings by using the CASPAR criteria. To validate the CASPAR criteria for PsA diagnosis, the definition of nail psoriasis clinical types and severity in the CASPAR criteria should be reviewed again.
Arthritis, Psoriatic* ; Asian Continental Ancestry Group ; Classification ; Cohort Studies ; Dermatology* ; Diagnosis ; Humans ; Hyperlipidemias ; Korea ; Logistic Models ; Physical Examination ; Prevalence ; Psoriasis

BACKGROUND: There have been few studies of treatment adherence in Asian patients with psoriasis and understanding of the factors is important to improve outcomes. OBJECTIVE: To provide an overview of treatment adherence among Korean patients with psoriasis and to understand how the perceptions of patients and physicians affect topical treatment adherence. METHODS: A cross-sectional questionnaire survey was conducted to determine the views and opinions of dermatologists and psoriasis patients on topical treatment adherence. The survey items were developed in collaboration with psoriasis experts. RESULTS: Twenty-six dermatologists and fifty patients completed their questionnaire. In the physician survey, more than half of dermatologists only inquired about adherence up to 20% of the time. Most dermatologists generally thought that their patients had high expectations of treatment. Nearly 40% of dermatologists reported that more than 60% of their patients adhered to the prescribed topical treatment. In the patient survey, more than 15% of patients reported that they did not receive enough information about the drug. Around one-fifth of the patients also complained about the physical properties of the products. The majority of patients were confident with the current topical treatments and expected fast improvement, within a couple of weeks. The most common reason for low adherence was forgetfulness. Inconvenience and concerns about side effects were common reasons for topical treatment discontinuation. CONCLUSION: Because adherence to topical treatment is a complex, multifactorial issue with factors varying between patients, dermatologists should focus on determining each patient's individual adherence barriers to achieve good treatment outcomes.
Asian Continental Ancestry Group ; Compliance ; Cooperative Behavior ; Humans ; Medication Adherence ; Psoriasis* ; Surveys and Questionnaires

Psoriasis is a life-long chronic relapsing dermatosis that shows waxing and waning of disease despite of a lot of conventional treatment. Severe psoriasis, usually defined by a psoriasis area and severity index (PASI) score of more than 10 and an area of involved skin of more than 10%, is a typical indication for biologic therapy. TNF-alpha inhibitors (etanercept, infliximab, and adalimumab) and an IL-12/23 inhibitor (ustekinumab) are the major biologics currently available for psoriasis. After the introduction of biologic treatment, many patients with severe psoriasis experience dramatic improvement of their disease without many side effects and are able to maintain a long-term remission period. Long-term follow up of the side effects of currently available biologics reveals no increase in adverse events compared with non-psoriatic individuals. However, the high cost of psoriasis biologics is a major remaining hurdle for the prescription of these agents to patients with severe psoriasis.
Adalimumab ; Biological Products* ; Biological Therapy ; Etanercept ; Follow-Up Studies ; Humans ; Infliximab ; Prescriptions ; Psoriasis* ; Skin ; Skin Diseases ; Tumor Necrosis Factor-alpha ; Ustekinumab

Polyarteritis nodosa (PAN) is regarded as an immune-complex mediated vasculitis and can present as extrahepatic manifestation of hepatitis B virus (HBV) infection. When treating HBV-associated PAN with immunosuppressive agent such as systemic steroid, the possibility of viral reactivation should be kept in mind and eagerly checked. Herein we report a case of HBV-associated cutaneous polyarteritis nodosa and its treatment outcome with combination therapy of steroid and antiviral agent, lamivudine for 6 weeks. Our experience suggests that more clinical data should be collected to determine the proper indication and end-point of antiviral therapy in chronic HBV carriers who receive immunosuppressant therapy.
Hepatitis B virus ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Lamivudine ; Polyarteritis Nodosa* ; Treatment Outcome ; Vasculitis