To report a case of Boucher-Neuhauser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhauser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhauser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.
Adolescent ; Atrophy ; Cerebellum/pathology ; Coloring Agents/diagnostic use ; Electroretinography ; Fluorescein Angiography ; Humans ; Hypogonadism/*diagnosis/genetics ; Indocyanine Green/diagnostic use ; Magnetic Resonance Imaging ; Male ; Photoreceptor Cells, Vertebrate/physiology ; Retinal Degeneration/*diagnosis/genetics ; Retinal Pigment Epithelium/*pathology ; Retinitis Pigmentosa/*diagnosis/genetics/physiopathology ; Spinocerebellar Degenerations/*diagnosis/genetics ; Syndrome ; Tomography, Optical Coherence

Purpose: We derived optimal formulae permitting effective lens position (ELP) for patients differing in terms of their preoperative axial lengths as revealed by partial coherence interferometry. Methods: We included 736 eyes from 736 patients who underwent conventional cataract surgery at Yeouido St. Mary’s Hospital. The preoperative axial length (AL), corneal power (CP), and anterior chamber depth (ACD) measured via partial coherence interferometry served as independent variables for ELP prediction. The 736 eyes were divided into seven groups differing by 1.0-mm intervals in terms of the preoperative axial length. We sought correlations between the independent variables and the ELP, and defined the combinations that best predicted the ELPs of the seven groups. Results: The CP correlated significantly with the ELP for eyes with AL between 22.0 and 25.0 mm (all p < 0.01) and the ACD correlated significantly with the ELP for eyes with AL between 23.0 and 26.0 mm (all p < 0.01). Although a regression equation featuring all of the AL, ACD, and CP best predicted the ELP for the total of 736 eyes (p < 0.001), the optimal combination varied by the preoperative AL. Conclusions The effects of CP, ACD, and AL on ELP vary by the preoperative AL. The optimal combination of preoperative variables predicting ELP thus varies as that parameter changes.

Purpose: We derived optimal formulae permitting effective lens position (ELP) for patients differing in terms of their preoperative axial lengths as revealed by partial coherence interferometry. Methods: We included 736 eyes from 736 patients who underwent conventional cataract surgery at Yeouido St. Mary’s Hospital. The preoperative axial length (AL), corneal power (CP), and anterior chamber depth (ACD) measured via partial coherence interferometry served as independent variables for ELP prediction. The 736 eyes were divided into seven groups differing by 1.0-mm intervals in terms of the preoperative axial length. We sought correlations between the independent variables and the ELP, and defined the combinations that best predicted the ELPs of the seven groups. Results: The CP correlated significantly with the ELP for eyes with AL between 22.0 and 25.0 mm (all p < 0.01) and the ACD correlated significantly with the ELP for eyes with AL between 23.0 and 26.0 mm (all p < 0.01). Although a regression equation featuring all of the AL, ACD, and CP best predicted the ELP for the total of 736 eyes (p < 0.001), the optimal combination varied by the preoperative AL. Conclusions The effects of CP, ACD, and AL on ELP vary by the preoperative AL. The optimal combination of preoperative variables predicting ELP thus varies as that parameter changes.

PURPOSE: We report a case of ophthalmic artery occlusion with third nerve paresis in the left eye due to acute occlusion of the left ICA. CASE SUMMARY: A 37-year-old man visited our emergency room with "black out" in the left eye, headache, and nausea. The corrected visual acuity was 20/25 in the right eye, and hand motion in the left eye. In the left eye, a relative afferent papillary defect was noted, with an intraocular pressure of six mmHg. Twenty prisms of exotropia in the primary position was observed, and ocular motor examination revealed limitations of supraduction, infraduction, and adduction in the left eye, suggesting third nerve palsy of the left eye. Fundus examination revealed a pale retina in the macula of the left eye. Brain MRI demonstrated multifocal faint low densities in the left caudate nucleus as well as the frontal and parietal lobes. CT angiography and four-vessel angiography demonstrated complete occlusion in the proximal part of the left internal carotid artery ICA.
Adult ; Angiography ; Brain ; Carotid Artery, Internal ; Caudate Nucleus ; Emergencies ; Exotropia ; Eye ; Hand ; Headache ; Humans ; Intraocular Pressure ; Nausea ; Oculomotor Nerve ; Oculomotor Nerve Diseases ; Ophthalmic Artery ; Paresis ; Parietal Lobe ; Retina ; Visual Acuity

OBJECTIVES: The purpose of this study was to identify current status of sickness absence and early leaves from work as a result of work-related musculoskeletal symptoms. METHOD: From January to December in 2007, 4,975 workers were recruited into this study and surveyed over this time period; workers came from 116 small and medium sized companies in Incheon. Among the study populations, only those who met the NIOSH criteria for work-related musculoskeletal symptoms on each symptom locations were included in the final analysis. The survey used a structured self-administered questionnaire, which asked questions about musculoskeletal symptoms regarding locations, sickness absences and early leaves from work. Other information gathered from participants included sociodemographical characteristics, and work-related characteristics. RESULTS: The rates of sickness absences and early leaves in each symptom locations were highest (14.9%) among workers with waist symptoms. Men had higher rates of sickness absences and early leaves form work than women; manufacturing workers had higher rates of sickness absences and early leaves form work than office workers. After confounding variables that had significant difference in univariate analysis on each symptom locations were adjusted, the odds ratios for sickness absence and early leaves divided by pain intensity were 4.361(neck), 4.140(shoulder), 3.151(arm/wrist), 3.085(leg/foot), and 2.731(waist), respectively; these differences were statistically significant. CONCLUSIONS: The rates of sickness absence and early leaves in each work-related musculoskeletal symptom locations were highest among workers with waist symptoms, and the intensity of pain was identified to have a considerable effect on the rates of sickness absences and early leaves. Based on these results, we think that there are needs to be early interventions on workers with waist symptoms.
Confounding Factors (Epidemiology) ; Early Intervention (Education) ; Humans ; Male ; National Institute for Occupational Safety and Health (U.S.) ; Odds Ratio ; Porphyrins ; Questionnaires

No abstract available.
Echocardiography ; Thrombosis

BACKGROUND: Carotid intima-media thickness (CIMT) is associated with several risk factors for atherosclerosis and has been consistently linked to cardiovascular and cerebrovascular disease. The clinical significance of separate measurements of CIMT, which is the sum of the intima (IT) and media thickness (MT), to use as an assessment of risk for atherosclerosis has not yet been fully established. METHODS: Among 3377 patients who underwent B-mode ultrasound of carotid arteries and coronary angiography in the Medical Department of St. Mary's Hospital from September 2003 to March 2009, 1146 subjects (M:F = 616:530; mean age, 57.7 ± 12.1 years) who were diagnosed with normal coronary arteries were enrolled in this study. IT, MT, and CIMT of the enrolled patients were manually measured using high-frequency ultrasonography (15 MHz linear array transducer). RESULTS: In multivariate logistic regression analysis, age (β = 0.063, p < 0.0001), body mass index (BMI) (β = 0.028, p = 0.018), and hypertension (HTN) (β = 0.046, p = 0.0002) were associated with MT (R2 = 0.256) and the IT/MT ratio (R2 = 0.209). Age (β = 0.065, p < 0.0001), BMI (β = 0.025, p = 0.038), hemoglobin A1c (β = 0.045, p = 0.045), and HTN (β = 0.043, p = 0.0006) correlated with mean CIMT (R2 = 0.230). Age (β = -0.071, p < 0.0001) and BMI (β = -0.046, p = 0.002) were associated with the IT/MT ratio (R2 = 0.219) on the left side. Age (β = 0.093, p < 0.0001) was related to MT (R2 = 0.265) and mean CIMT (R2 = 0.243) on the left side. CONCLUSION: We noted different atherosclerotic risk factors were related to measurements of the arterial wall in different ways. Therefore, separate measurements of CIMT might be a useful method to assess the risk for atherosclerosis.
Atherosclerosis* ; Body Mass Index ; Carotid Arteries ; Carotid Intima-Media Thickness ; Coronary Angiography ; Coronary Vessels ; Humans ; Hypertension ; Logistic Models ; Risk Factors* ; Ultrasonography

BACKGROUND: Isoniazid(INH) and rifampicin(RFP) are potent antituberculous drugs which have made tuberculous disease become decreasing. In Korea, prescribed doses of INH and RFP have been different from those recommended by American Thoracic Society. In fact they were determined by clinical experience rather than by scientific basis. Even there has been. few reports about pharmacokintic parameters of INH and RFP in healthy Koreans. METHOD: Oral pharmacokinetics of INH were studied in 22 healthy native Koreans after administration of 300mg and 400mg of INH to each same person successively at least 2 weeks apart. After an overnight fast, subjects received medication and blood samples were drawn at scheduled times over a 24-hour period. Urine college lion was also done for 24 hours. Pharmacokinetics of RFP were studied in 20 subjects in a same fashion with 450mg and 600mg of RFP. Plasma and urinary concentrations of INH and RFP were determined by high-performance liquid chromatography(HPLC). RESULTS: Time to reach peak serum concentration (Tmax) of INH was 1.05α0.34 hrs at 300mg dose and 0.98α0.59 hrs at 400mg dose. Half-life was 2.49α0.88 hrs and 2.80α0.75 hrs, respectively. They were not different significantly(p>0.05) Peak serum concentration(Cmax) after administration of 400mg of INH was 7.14α 1.95mcg/mL which was significantly higher than Cmax (4.37α1.28mcg/mL) by 300mg of INH(p<0.01). Total clearance(CLtot) of INH at 300mg dose was 26.76α11.80mL/hr. At 400mg dose it was 21.09α8.31mL/hr which was significantly lower(p<0.01) than by 300mg dose. While renal clearance(CLr) was not different among two groups nonrenal clearance(CLnr) at 400mg dose (18.18α8.36mL/hr) was significantly lower than CLnr (23.71α11.52mL/hr) by 300mg dose(p<0.01). Tmax of RFP was 1.11α0.41 tut at 450mg dose and 1.15 α0.43 hrs at 600mg dose. Half-life was 4.20α0.73 hrs and 4.95α2.25 hrs, respectively. They were not different significantly(p>0.05). Cmax after administration of 600mg of RFP was 13.61 α3.43mcg/mL which was significantly higher than Cmax(10.12α2.25mcg/mL) by 450mg of RFP(p<0.01). CLtot of RFP at 450mg dose was 7.60α1.34mL/hr. At 600mg dose it was 7.05α 1.20mL/hr which was significantly lower(p<0.05) than by 450mg dose. While CLr was not different among two groups, CLnr at 600mg dose(5.36α1.20mL/hr) was significantly lower than CLnr(6.19α 1.56mL/hr) by 450mg dose(p<0.01). CONCLUSION: Considering Cmax and CLnr, 300mg, of INH and 450mg RFP might be sufficient doses for the treatment of tuberculosis in Koreans. But it remains to be clarified in the patients with tuberculosis.
Half-Life ; Humans ; Isoniazid* ; Korea ; Lions ; Pharmacokinetics ; Plasma ; Rifampin* ; Tuberculosis ; Volunteers*

BACKGROUND: We have recently reported that airway epithelial cells can produce RANTES and IL-8 in response to the stimulation of tubercle bacilli wuggesting a certain role of airway epithelial cells in the pathogenesis of pulmonary tuberculosis. The pathogenesis of tuberculosis is determined by several factors including phagocytosis, immunological response of host, and virulence of tubercle bacilli. Interestingly, there have been reports suggesting that difference in immunological response of host according to the virulence of tubercle bacilli may be related with the pathogenesis of tuberculosis. We, therfore, studied the expressions and productions of RANTES and IL-8 in airway epithelial cells in response to tubercle bacilli(H37Rv, virulent strain and H37Ra, avirulent strain), in order to elucidate the possible pathophysiology of pulmonary tuberculosis. METHODS: Peripheral blood monocytes were isolated from normal volunteers. Peripheral blood monocytes(OBM) were stimulated with LPS(10 micrograms/ml), H37Rv, or H37Ra(5X10(5) bacilli/well) along with normal control for 24 hours. A549 cells were stimulated with supernatants of cultured PBM for 24 hours. ELISA kit was used for the measurement of TNFalpha and IL-1beta production in supernatants of cultured PBM and for the measurement of RANTES and IL-8 in supernatants of cultured A549 cells. Northern blot analysis was used for the measurement of RANTES and IL-8 mRNA expression in cultured A549 cells. RESULTS: TNFalpha and IL-1beta productions were increased in cultured PBM stimulated with LPS or tubercle bacilli(H37Rv or H37Ra) compared with the control. There was, however, no difference in TNFalpha and IL-1beta production between cultured PBM stimulated with H37Rv and H37Ra. RANTES and IL-8 expressions and productions were also increased in cultured A549 cells stimulated with LPS or tubercle bacilli compared with the control. RANTES and IL-8 mRNA expressions were significantly increased in cultured A549 cells stimulated with H37Ra-conditioned media(CM) compared with A549 cells stimulated with H37Rv-CM (p<0.05). However, there was no difference in RANTES and IL-8 productions between A549 cells stimulated with H37Rv-CM and H37Ra-CM. CONCLUSION: Airway epithelial cells can produce the potent chemokines such as RANTES and IL-8, in response to the stimulation of tubercle bacilli. These results suggest that airway epithelial cells may play a certain role in the pathogenesis of pulmonary tuberculosis. However, the role of airway epithelial cells in the pathogenesis of tuberculosis according to the virulence of tubercle bacilli was not clear in this study.
Blotting, Northern ; Chemokine CCL5 ; Chemokines ; Enzyme-Linked Immunosorbent Assay ; Epithelial Cells* ; Healthy Volunteers ; Interleukin-8 ; Monocytes ; Phagocytosis ; RNA, Messenger ; Tuberculosis ; Tuberculosis, Pulmonary ; Tumor Necrosis Factor-alpha ; Virulence*

BACKGROUND: The evaluation of candidates for successful lung resection is important. We studied to Our study was conducted to determine the preoperative predictors of postoperative mortality and morbidity in lung cancer patients with impaired lung function. METHOD: Between October 1, 1995 to August 31, 1997, 36 lung resection candidates with FEV1 of less than 2L or 60% predicted due to lung cancer were included prospectively. Age, sex, weight loss, hematocrit, serum albumin, EKG and concomitant illness were considered as systemic potential predictors for a successful lung resection. Smoking history, presence of pneumonia, dyspnea scale(1 to 4), arterial blood gas analysis with room air breathing, routine pulmonary function test were also included for the analysis. In addition, predicted postoperative(ppo)pulmonary factors such as ppo-FEV1, ppo-diffusing capacity(DLco), predicted postoperative product(PPP) of ppo-FEV1% x ppo-DLco% and ppo-maximal O2 uptake(VO2max) were also measured. RESULTS: There were 31 men and 5 women with the median age of 65 years (range 44 to 82) and a mean FEV1 of 1.78 +/-0.06L. Pneumonectomy was performed in 14 patients, bilobectomy in 8, lobectomy in 14. Pulmonary complications developed in 10 patients, cardiac complications in 3, other complications (empyema, air leak, bleeding) in 4. Twelve patients were managed in the intensive care unit for more than 48 hours. Two patients died within 30 days after operation. The ppo-VO2max was less than 10 mg/kg/min in these two patients. MVV was the only predictor for the pulmonary complications. However, there was no predictors for the post operative death in this study.
Blood Gas Analysis ; Dyspnea ; Electrocardiography ; Female ; Hematocrit ; Humans ; Intensive Care Units ; Lung Neoplasms* ; Lung* ; Male ; Mortality* ; Pneumonectomy ; Pneumonia ; Prospective Studies ; Respiration ; Respiratory Function Tests ; Serum Albumin ; Smoke ; Smoking ; Weight Loss