PURPOSE: The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation. MATERIALS AND METHODS: Overall, 235 Korean patientswith BRCA1/2 mutation-negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT. RESULTS: A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1. CONCLUSION: No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.
Breast Neoplasms* ; Breast* ; Computer Simulation ; Electrophoresis ; Exons ; Genetic Variation ; Hereditary Breast and Ovarian Cancer Syndrome ; Humans ; Introns ; Korea ; Silent Mutation

Percutaneous epidural neuroplasty may lead to complications such as hematoma, infection, epidural abscess, meningitis, hypotension, respiratory depression, urinary and fecal dysfunction, sexual dysfunction and paresthesia. Other technical complications may include shearing or tearing, misplacement, blockage and migration of the catheter. We report a case of a 41-year-old female patient, who underwent surgical removal of a sheared catheter, which was retained for 30 months after cervical Racz neuroplasty.
Adult ; Catheters* ; Epidural Abscess ; Epidural Space* ; Female ; Hematoma ; Humans ; Hypotension ; Meningitis ; Neck ; Paresthesia ; Respiratory Insufficiency

BACKGROUND: We evaluated the analgesic efficacy of a 5% eutectic mixture of lidocaine and prilocaine (EMLA(R)) topically applied before performing skin puncture for spinal or epidural anesthesia. METHODS: The patient population consisted of 75 ASA physical status 1 and 2 adults scheduled for operations of the lower abdominal region, the perineal region or the lower extremities. The patients were randomly allocated to one of five groups of equal size: group A - topical application of EMLA(R) cream 120 min before spinal block; group B - subcutaneous infiltrationof 2 ml of 2% lidocaine immediately before spinal block; group C - no pretreatment before spinal block; group D - topical application of EMLA(R) cream 120 min before epidural block; and group E - subcutaneous infiltration of 2 ml of 2% lidocaine immediatelybefore epidural block. Pain experienced during the whole procedure was rated using a 10 cm visual analogue scale. RESULTS: Patients in group A experienced less pain compared with those in groups B and C (2.0 +/- 1.9 cm vs 4.1 +/- 1.9 cm and 3.9 +/- 2.2 cm, respectively; P < 0.05). However there was no significant difference between group D and group E (3.6 +/- 2.4 cm vs 4.1 +/- 2.5 cm). The patients in group A and group D were highly satisfied with the method of analgesia (P < 0.05). CONCLUSIONS: EMLA(R) cream is an effective alternative to subcutaneous infiltration of local anesthetic for analgesia during skin puncture using a 25 G spinal needle. It provides insufficient analgesia however for epidural anesthesia.
Adult ; Analgesia ; Anesthesia, Epidural ; Anesthesia, Spinal ; Benzeneacetamides ; Humans ; Lidocaine ; Lower Extremity ; Needles ; Piperidones ; Prilocaine ; Punctures ; Skin

BACKGROUND: Bioprosthetic devices for treating cardiovascular diseases and defects may provide alternatives to autologous and homograft tissue. We evaluated the mechanical and physical conditions of a porcine pericardial bioprosthesis treated with Glutaraldehyde (GA), Ethanol, or Sodium dodecylsulfate (SDS) before implantation. MATERIAL AND METHOD: 1) Thirty square-shaped pieces of porcine pericardium were fixed in 0.625%, 1.5% or 3% GA solution. 2) The tensile strength and thickness of these and other bioprosthesis, including fresh porcine pericardium, fresh human pericardium, and commercially produced heterografts, were measured. 3) The tensile strength and thickness of the six treated groups (GA-Ethanol, Ethanol-GA, SDS only, SDS-GA, Ethanol-SDS-GA and SDS-Ethanol-GA) were measured. RESULT: 1) Porcine pericardium fixed in 0.625% GA the thinnest and had the lowest tensile strength, with thickness and tensile strength increasing with the concentration of GA solution. The relationship between tensile strength and thickness of porcine pericardium increased at thicknesses greater than 0.1 mm (correlation-coefficient 0.514, 0<0.001). 2) There were no differences in tensile strength or thickness between commercially-produced heterografts. 3) Treatment of GA, ethanol, or SDS minimally influenced thickness and tensile strength of porcine pericardium, except for SDS alone. CONCLUSION: Porcine pericardial bioprosthesis greater than 0.1 mm thick provide better handling and advantageous tensile strength. GA fixation did not cause physical or mechanical damage during anticalcification or decellularization treatment, but combining SDS-ethanol pre-treatment and GA fixation provided the best tensile strength and thickness.
Bioprosthesis ; Cardiovascular Diseases ; Ethanol ; Glutaral ; Handling (Psychology) ; Humans ; Pericardium ; Sodium ; Tensile Strength ; Transplantation, Heterologous ; Transplantation, Homologous

BACKGROUND: Bronchial asthma is a chronic airway inflammatory disorder involving lymphocyte activation. Lymphocytes express various surface markers upon activation, including CD25 (IL-2 receptor alpha) on T cells and CD23 on B cells. OBJECTIVES: To evaluate whether the surface markers of activated lymphocytes are useful indicators of the disease activity in bronchial asthma. METHOD: We measured serum sCD25 and sCD23 in 42 patients with mild bronchial asthma, and in 26 normal control, volunteers. They were compared with other markers in asthma (methacholine PC20, pulmonary function, total IgE, blood eosinophil counts). RESULTS: Levels of sCD25 were higher among patients than among normal controls and they correlated significantly with sCD23, and FEV1 %, but, not with methacholine PC20. Levels of sCD23 were not higher among patients than among normal controls and did not correlate with methacholine PC20, pulmonry function and total IgE level. CONCLUSION: It appears that sCD25 is related to airway obstruction in bronchial asthma. But, the clinical implications of these markers should be further examined.
Airway Obstruction ; Asthma* ; B-Lymphocytes ; Eosinophils ; Humans ; Immunoglobulin E ; Lymphocyte Activation ; Lymphocytes ; Methacholine Chloride ; T-Lymphocytes ; Volunteers

Kartagener's syndrome is an autosomal recessively inherited condition characterized by triad of situs inversus, bronchiectasis, and chronic sinusitis. And recently it was classified as a subclass of dyskinetic cilia syndrome, which has a defect in mucociliary transport resulting from immotile or dyskinetic beating of cilia. Electron microscopic examination of the cilia from sperm tails, nasal and bronchial epithelium of patients reveals the partial or the complete absence of dynein arms or radial spoke, or microtubule disposition. This patient had all the triad of Kartagener's syndrome and showed two extracentral microtubules on the electron microscopic examination of the nasal mucosa. Most patients have dynein arms defect, but it is rare to have extracentral microtubules. So we report one case of Kartagener's syndrome with extracentral microtubules confirmed by electron microscopy.
Ammonia ; Apoptosis ; Arm ; Bronchiectasis ; Cilia* ; Dyneins ; Epithelium ; Helicobacter pylori ; Humans ; Kartagener Syndrome* ; Microscopy, Electron ; Microtubules* ; Mucociliary Clearance ; Nasal Mucosa ; Sinusitis ; Situs Inversus ; Sperm Tail

OBJECTIVES: Pneumoconisis and noise-induced hearing loss(NIHL) have been reported as main occupational diseases by the Special Health Examination. The Industrial Accident Compensation Insurance has reported various work-related diseases, however, these two diseases occupied almost a half of compensated cases. Therefore, it was not well known about the status of occupational diseases other than pneumoconiosis, NIHL, and cardiocerebrovascular accident(CVA). This study was conducted to analyze claimed cases as an occupational disease, that was requested to the Korea Industrial Safety and Health Agency (KOSHA). METHODS: The local office of the Korea Labor Welfare Corporation(KLWC) has asked the KOSHA for confirmation of claimed cases as an occupational disease. We analyzed 379 cases requested from KLWC, the Ministry of Labor, employers, unions and occupational health agencies from 1992 to 1999. RESULTS: Male was 80. 7 % of the requested cases. Their mean age was 42 years old and 75. 5 % of them were more than 35 years old. The requested cases were increased rapidly from 25 cases in 1992 to 108 cases in 1999 and the accept rate was 50. 7 %. The majority of requested cases were respiratory diseases(22.4 %), cancers(18.5 %), Neuropsychiatric problems (14. 5 %), and musculoskeletal problems (13. 5 %). The accept rate was high in reproductive, respiratory, musculoskeletal and digestive disorders and low in neuropsychiatric, renal and otologic problems and occupational cancers. 73. 6 % of them were caused by chemical agents, especially 28. 5 % were by organic solvents. 67 % of them were clinically confirmed at university hospitals. A half of the cases were from KyongIn area, even the request came from the whole country. CONCLUSIONS: A claim was common in workers whose age was over 35 years old and exposure history was over 10 years. The respiratory diseases and neuropsychiatric disorders were still main problems in occupational health and occupational cancers was increasing even though its accept rate was not high yet.
Accidents, Occupational ; Adult ; Compensation and Redress ; Hearing ; Hospitals, University ; Humans ; Insurance ; Korea* ; Male ; Occupational Diseases* ; Occupational Health* ; Pneumoconiosis ; Solvents

BACKGROUND: Cardiopulmonary exercise test is a useful test for the evaluation of the cardiovascular and respiratory systems. Obese subjects have an increased resting metabolic rate (VO2) compared to non-obese subjects and the increase is more marked during dynamic exercise, which results in the limitation of maximal exercise in obese subjects. In this study, the influence of the obesity and fat distribution on the maximal exercise capacity were evaluated. METHODS: Maximal exercise capacity was represented by maximam maximum oxygen uptake and VO2 max in the cardiopulmonary test. Obesity, total fat content and abdominal obesity(waist to hip ratio, WHR) were measured by bioelectrical impedence method. Total of 42 volunteers(male 22, female 20) were evaluated. RESULTS: 1) Weight to height ratio(mean±SD) was 110%±14.9% in men and 100±11.1% in women. 2) Fat ratio(mean±SD) was 23.3±5.2% in men and 27.55±3.9% in woman. 3) Waist to hip ratio(mean±SD) was 0.85±0.04 in men and 0.8±0.03 in woman. 4) In men, VO2max/min/Kg was negatively correlate with obesity, fat ratio, and abdominal fat distribution. 5) In woman, VO2max/Kg was negatively correlated with obesity and fat ratio, but did not show significant relationship with abdominal fat distribution. CONCLUSION: Obesity was a limiting factor for maximal exercise in both men and women. Abdominal obesity was a limiting factor for maximal exercise in men but its implication to women needs further evaluation.
Abdominal Fat ; Exercise Test* ; Female ; Hip ; Humans ; Male ; Obesity ; Obesity, Abdominal ; Oxygen ; Respiratory System

OBJECTIVE: Cardiopulmonary exercise test is a useful tool to evaluate the operative risk and to plan exercise treatment for the patients with chronic obstructive pulmonary disease(COPD). In cardiopulmonary exercise test, most of the measured parameters are recorded at the time of peak exercise, which are hard to attain in COPD patients. So we evaluated the usefulness of the parameter, breathing reserve index(BRI=minute ventilation [VE]/maximal voluntary ventilation[MVV]) at the time of anaerobic threshold(BRIAT) for the differentiation of COPD patients with normal controls. METHODS: Thirty-six COPD patients and forty-two healthy subjects underwent progressive, incremental exercise test with bicycle ergometer upto possible maximal exercise. All the parameters was measured by breath by breath method. RESULTS: The maximal oxygen uptake in COPD patients (mean+/-SE) was 1061.2+/-65.6ml/min which was significantly lower than 2137.6+/-1.4ml/min of normal subjects(p<0.01). Percent predicted maximal oxygen uptake was 54.3% in COPD patients and 86.0% in normal subjects(p<0.01). Maximal exercise(respiratory quotient; VCO2/VO2 > or =1.09) was accomplished in 7 of 36 COPD patients(19.4%) and in 18 of 42 normal subjects(42.9%). The BRIAT of COPD patients was higher(0.50+/-0.03) than that of control subject(0.28+/-0.02, p<0.01), reflecting early hyperventilation in COPD patient during exercise. The correlation between BRIAT and BRI at maximal exercise in COPD patients was good(r=0.9687, p<0.01). CONCLUSION: The BRIAT could be a useful parameter for the differentiation of COPD patients with normal controls in the submaximal cardiopulmonary exercise test.
Anaerobic Threshold* ; Exercise Test* ; Humans ; Hyperventilation ; Oxygen ; Pulmonary Disease, Chronic Obstructive* ; Respiration* ; Ventilation

BACKGROUND: The upper respiratory tract is the primary target organ of various airborne pollutants and is easily accessible part of the respiratory tract, and also is the predominant structure where chronic cough originates. The nasal peak inspiratory flow(PIFn), which is the peak inspiratory flow via nose with nasal mask and spirometry, could be a reliable parameter of nasal obstruction. The validity of PIFn has been evaluated in several studies by assessing the correlation between PIFn measurements and other parameters of nasal air flow. This study was designed to show the reproducibility of PIFn, the difference of PIFn between patients with chronic cough and normal subjects, and the usefulness of PIFn in the evaluation of nasal obstruction in patients with chronic cough. METHODS: PIFn was measured by spirometry with nasal mask, twice a day for 3 consecutive days in 7 young normal subjects to evaluate validity of the test. In 32 patients with chronic cough and 25 age-matched normal subjects, PIFn and pulmonary function test(FEV1, FEV1%pred, FVC, and FVC%pred) were measured at first visiting. RESULTS: Values of PIFn, FEV1, and FVC were nearly constant in 7 young normal adults. Patients with chronic cough were 32 (14 males and 18 females) and the mean age was 41.4+/-15.9 years. Normal subjects were 32 (22 males and 10 females) and the mean age was 39.8+/-18.6 years. There was no significant difference of age and pulmonary function test between patients with chronic cough and normal subjects(p<0.05). The PIFn values in patients with chronic cough was significantly lower than those of normal subjects(2.25+/-0.68 L/sec vs. 2.75+/-1.00 L/sec; p=0.02). The postnasal drip syndrome(PNDS) comprised the majority of patients with chronic cough(27). The PIFn in patients with PNDS was significantly lower than that of normal subjects(meanD; 2.18+/-0.66 vs. 2.75+/-1.00 L/sec, p=0.006). CONCLUSION: There was a significant difference of PIFn between patients with chronic cough and normal subjects. Among the patients with chronic cough, patients with PNDS showed the most significant difference with normal subjects in PIFn. The PIFn could be a useful parameter of nasal obstruction in patients with chronic cough, especially in patients with PNDS.
Adult ; Cough* ; Humans ; Male ; Masks ; Nasal Obstruction ; Nose ; Respiratory Function Tests ; Respiratory System ; Spirometry