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

Anesthesia consent was requested by our anesthesiology department when the patient condition was found to be critical during the preanesthetic visit. To evaluate the trend, one hundred and five anesthesia consent cases among the 6,430 anesthetics from January 1977 to December 1978 at the department of anesthesiology, St. Mary's hospital, Catholie Medical College, were analyzed according to the anesthetic method, age, sex, surgical department, anesthetic agent, physical status, site of operation, diagnosis, preanesthetic problem and cause of death. The results were as follows; 1) Fifteen cases(14%) died among the 105 cases of anesthesia consent during and/or after .surgery, within the first 7 days. 2) Physical status was class ll E in 43% and the ratio of elective to emergency surgery was 1 to 1.4. 3) Upper abdominal surgery was performed in 52 cases(50%), urogenital surgery in 21 cases (20%), head and neck surgery in 18 cases(17%), surgery on extremities in 12 cases(11%) and thoracic surgery in 2 cases(2%), accordingly. 4) Cardiovascular problems were found in 27 cases(26%), hematologic disorders in 13 cases (12%), respiratory problems in 13 cases(12%), sepsis in 9 cases (9%), problems of central nervous system in 9 cases(9%), hepato-renal disorders in 8 cases(8%) and endocrine disorders in 5 cases(5%), respectively, 5) Postanesthetic cause of death was cardiopulmonary disturbance(33%), sepsis(27%) cerebral edema(20%) and hemorrhage(13%).
Anesthesia* ; Anesthesiology ; Anesthetics ; Cause of Death ; Central Nervous System ; Diagnosis ; Emergencies ; Extremities ; Head ; Humans ; Methods ; Neck ; Sepsis ; Thoracic Surgery

This is a case report of pulmonary embolism which occurred as a complication of mesenteric venous stasis with sepais. This 49 year old nun was operated upon for an obstructed intestine under general anesthesia with halothane and d-tubocurarine. She had a hystrectomy for myoma 2 years ago and has ailed for 6 days from this condition. The patient became dyspneic and cyanotic suddenly three hours after the surgery. The chest X-ray revealed three or four bilateral, rounded and moderately increased densities, and her ECG showed a large S wave in limb leads, P-pulmonare, and right ventricular strain pattern with right axis deviation. CPPV with 100% oxygen by the manual method improved the condition of the patient for about three hours, but tachycardia and a failing heart could not be corrected in site of digitalis, steroid, diuretics and heparinization. The patient died 11 hours after the operation.
Anesthesia, General ; Digitalis ; Diuretics ; Electrocardiography ; Extremities ; Halothane ; Heart ; Heparin ; Humans ; Intestinal Obstruction* ; Intestines ; Methods ; Myoma ; Nuns ; Oxygen ; Pulmonary Embolism* ; Tachycardia ; Thorax ; Tubocurarine

Accumulation of leukocytes within the glomerulus is a key event in the pathogenesis of glomerulonephritis. This process is mediated by pairs of adhesion molecules. We have examined the expression pattern of selectins (E and P), intercellular adhesion molecule-1 (ICAM-1), and vascular cell adhesion molecule-1 (VCAM-1) in 30 renal biopsies with IgA nephropathy, diffuse crescentic glomerulonephritis, and minimal change disease. Normal controls were obtained from four nephrectomy specimens with renal cell carcinoma. ICAM-1 expression was significantly increased in the glomerular endothelial and mesangial cells in cases with IgA nephropathy compared with normal controls. VCAM-1 was expressed in glomerular mesangial cells in all cases with IgA nephropathy and diffuse crescentic glomerulonephritis, but faintly expressed in 3 cases with minimal change disease and not expressed in normal controls. P-selectin was faintly expressed in the glomeruli in cases with IgA nephropathy and diffuse crescentic glomerulonephritis. E-selectin was only expressed in the vascular endothelium in one case with IgA nephropathy and in the other with diffuse crescentic glomerulonephritis. ICAM-1 and VCAM-1 were strongly expressed in the crescents. However, selectin was not expressed in the crescent. These results suggest that adhesion molecules, particularly ICAM-1 and VCAM-1, play an important role in the pathogenesis of glomerular damage and crescent formation in primary glomerular diseases.
Biopsy ; Carcinoma, Renal Cell ; E-Selectin ; Endothelium, Vascular ; Glomerulonephritis* ; Glomerulonephritis, IGA* ; Immunoglobulin A* ; Intercellular Adhesion Molecule-1 ; Leukocytes ; Mesangial Cells ; Nephrectomy ; Nephrosis, Lipoid* ; P-Selectin ; Selectins ; Vascular Cell Adhesion Molecule-1

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*

Glomerulosclerosis represents a pathological hallmark of progressive glomerular injury. Mesangial cell proliferation and accumulation of extracellular matrix (ECM) proteins in the mesangial area frequently precede the formation of glomerulosclerosis. To understand the role of platelet-derived growth factor (PDGF) and ECM in the development of glomerulosclerosis, we examined the expression of type IV collagen, laminin, fibronectin, and PDGF in 45 renal biopsies diagnosed with IgA nephropathy (IgAN) using a standard peroxidase antiperoxidase (PAP) technique. Normal control specimens were obtained from four nephrectomy specimens diagnosed with renal cell carcinoma. As compared with normal controls, type IV collagen increased in 68%, fibronectin in 73%, laminin in 51%, and PDGF in 36% of patients with IgA nephropathy. The staining intensity of PDGF, type IV collagen, and fibronectin increased significantly in cases with moderate to severe mesangial cell proliferation than cases without. In the areas of glomerulosclerosis, the staining intensity of type IV collagen, laminin, and PDGF decreased, whereas that of fibronectin increased. These results suggest that mesangial cell proliferation in relation to increased PDGF expression in IgAN could stimulate the expression of type IV collagen, laminin and fibronectin leading to mesangial expansion. They also suggest that ECM decreased in advanced glomerulosclerosis. Deposition of fibronectin, which originates mainly from the blood stream, increases during the course of progressive glomerulosclerosis, whereas other ECM components decrease in advanced glomeruloslresosis.
Biopsy ; Carcinoma, Renal Cell ; Collagen Type IV ; Extracellular Matrix* ; Fibronectins ; Glomerulonephritis, IGA* ; Humans ; Immunoglobulin A* ; Laminin ; Mesangial Cells ; Nephrectomy ; Peroxidase ; Platelet-Derived Growth Factor* ; Rivers

We have evaluated the clinical results following the 46 cases of free vascularized osteocutaneous fibular flap transfer to the tibial defect combined with soft tissue defect, which were performed from May 1982 to January 1997. In the 46 consecutive procedures of free vascularized osteocutaneous fibular flap transfer, initial bony union were obtained in the 43 grafted fibulars at average 3.75 months after operation. There were 2 cases in delayed unions and 1 in nonunion. 44 cutaneous flaps among the 46 cases were survived but 2 cases were necrotized due to deep infection and venous insufficiency. One necrotized flap was treated with latissimus dorsi free flap transfer and the other was treated with soleus muscle rotational flap. Grafted fibulas have been hypertrophied during the follow-up periods. The fracture of grafted fibula (15 cases) was the most common complication and occurred at average 9,7 months after the operation. The fractured fibulas were treated with the cast immobilization or internal fixation with conventional cancellous bone graft. In the cases of tibia and fibula fracture at recipient site, the initial rigid fixation for the fibula fracture at recipient site could prevent the fracture of grafted fibula to the tibia.
Fibula ; Follow-Up Studies ; Free Tissue Flaps ; Immobilization ; Muscle, Skeletal ; Superficial Back Muscles ; Tibia* ; Transplants* ; Venous Insufficiency

Angiosarcoma is a rare primary malignancy occurring anywhere in the body, but most often in the skin, liver or breast. The radiological findings of angiosarcoma of the breast have rarely been reported. We encountered a case in which the condition involved a 32-year-old woman in whom mammography revealed a obscuved-marginated and lobular-shaped high-density lesion, and ultrasonography demonstrated an ovalshaped, microlobular-marginated, inhomogenous hypoechoic mass which metastasized to the whole body after surgery. We report the radiological findings of this case of angiosarcoma of the breast, and review the literature.
Adult ; Breast Neoplasms ; Breast* ; Female ; Hemangiosarcoma* ; Humans ; Liver ; Mammography ; Sarcoma ; Skin ; Ultrasonography

Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.
Disease Progression ; Environmental Exposure ; *Epidemiologic Studies ; *Genetic Markers ; Humans ; Molecular Epidemiology/*methods ; Neoplasms/epidemiology ; Republic of Korea/epidemiology

OBJECTIVES: Cognitive impairment in restless legs syndrome (RLS) patients can be affected by sleep deprivation, anxiety and depression, which are common in RLS. The objective of this study is to investigate relationship between cognitive impairment and RLS in the non-medicated Korean elderly with controlling for psychiatric conditions. METHOD: The study sample for this study comprised 25 non-medicated Korean elderly RLS patients and 50 age-, sex-, and education-matched controls. All subjects were evaluated with comprehensive cognitive function assessment tools-including the Korean version of Consortium to Establish a Registry for Alzheimer's Disease Assessment Packet (CERAD-K), severe cognitive impairment rating scale (SCIRS), frontal assessment battery (FAB), and clock drawing test (CLOX). Sleep quality and depression were also assessed with Pittsburgh sleep quality index (PSQI) and geriatric depression scale (GDS). RESULTS: PSQI and GDS score showed no difference between RLS and control group. There was no significant difference between two groups in nearly all the cognitive function except in constructional recognition test, in which subjects with RLS showed lower performance than control group (t=-2.384, p=0.02). Subjects with depression (GDS> or =10) showed significant cognitive impairment compared to control in verbal fluency, Korean version of Mini Mental Status Examination in the CERAD-K (MMSE-KC), word list memory, trail making test, and frontal assessment battery (FAB). In contrast, no difference was observed between subjects who have low sleep quality (PSQI>5) and control group. CONCLUSIONS: At the exclusion of the impact of insomnia and depression, cognitive function was found to be relatively preserved in RLS patients compared to control. Impairment of visual recognition in RLS patients can be explained in terms of dopaminergic dysfunction in RLS.
Aged ; Alzheimer Disease ; Anxiety ; Depression ; Humans ; Memory ; Restless Legs Syndrome ; Sleep Deprivation ; Sleep Initiation and Maintenance Disorders ; Trail Making Test