RESUMO
BACKGROUND: The purpose of this study is to investigate the positive rates of screening tests for inherited metabolic disorders, set cutoff values, and report the actual status of internal quality controls in LabGenomics Clinical Laboratories by using LC-MS/MS system. METHODS: We use Agilent 1260 Infinity HPLC System (Agilent Technologies, USA) for liquid chromatography, and API 2000 (AB Sciex, Canada) for MS/MS system. We set up screening tests for 55 diseases, which include metabolic disorders of 25 amino acids, 16 organic acids, and 14 fatty acids. RESULTS: We determined the analyte cutoff values as 99.9 or 0.1 percentiles in 15,000 newborn samples. The total number of samples tested from January 2012 to September 2014 was 119,948; of these, 6,681 were repeated. Of the repeated samples, 713 were presumed to be positive in the screening tests. Repeat screening with newly obtained dried blood spot specimens was recommended for these 713 samples and 600 specimens were obtained. Thus, the recall rate was 0.5% (600/119,948) for all samples and 84.2% (600/713) for the samples presumed to be positive in the screening tests. About 70 samples, that is, 0.06% of the total samples and 11.7% of the "reobtained" samples, again tested positive; we recommended confirmatory tests for these samples. CONCLUSIONS: We have presented data on the status of neonatal screening tests for inherited metabolic disorders using LC-MS/MS, including positive rates and recall rates of screening tests, set up cutoff values and reported the actual status of internal quality controls in a clinical laboratory in Korea.
Assuntos
Humanos , Recém-Nascido , Aminoácidos , Cromatografia Líquida de Alta Pressão , Cromatografia Líquida , Ácidos Graxos , Coreia (Geográfico) , Programas de Rastreamento , Triagem Neonatal , Controle de Qualidade , Espectrometria de Massas em TandemRESUMO
PURPOSE: To investigate the efficacy of a computerized visual acuity test, the SNU visual acuity test for children. METHODS: Fifty-six children, ranging from 1 to 5 years of age, were included. In a dark room, children gazed at and followed a circular dot with 50% contrast moving at a fixed velocity of 10 pixels/sec on a computer monitor. Eye movement was captured using a charge coupled device camera and was expressed as coordinates on a graph. Movements of the eye and dot were superimposed on a graph and analyzed. Minimum visualized dot diameters were compared to the Teller visual acuity. RESULTS: Ten eyes (8.9%) of six children failed to perform the Teller visual acuity test, and two eyes (1.8%) of one patient failed to perform the SNU visual acuity test. The observed Teller visual acuity and SNU visual acuity were significantly correlated (p < 0.001). Visual angle degrees converted from the Teller visual acuity and SNU visual acuity were also significantly correlated (p < 0.001). CONCLUSION: The SNU visual acuity using moving targets correlated well with Teller visual acuity and was more applicable than the Teller acuity test. Therefore, the SNU visual acuity test has potential clinical applications for children.
Assuntos
Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Diagnóstico por Computador/métodos , Estudos Prospectivos , Transtornos da Visão/diagnóstico , Testes Visuais/métodos , Acuidade VisualRESUMO
BACKGROUND: Previous study suggested that beef tallow extract including cis-9-cetylmyristoleate was a safe and effective treatment for patients with osteoarthritis. We used extract of vegetable oils containing cetyl myristoleate. This study assessed the effect of this supplementation on knee pain and function in patients with osteoarthritis. METHODS: The 70 patients who manifested the symptoms and signs of osteoarthritis of knee were randomly assigned to placebo (36) and plant-fatty acids complex (FAC) group (34). Two capsules of placebo (corn starch 350 mg) and plant-FAC (12% cetyl myristoleate in 350 mg) were orally administered to placebo and plant-FAC group three times a day for 60 day, respectively. Visual analogue scale (VAS) and Korean version of Western Ontario and McMaster's Universities Osteoarthritis Index (KWOMAC) were assessed before and after the intervention and we monitored any adverse effects. RESULTS: The 6 of 36 patients (16.7%) in the placebo and the 5 of 34 patients (14.7%) in the plant-FAC group were missed due to low compliance. In the plant-FAC group, the VAS score was improved by mean 0.76 (P = 0.03) but the improvement was lower than that of placebo group. The KWOMAC was improved by mean 8.90 and 8.13 in the plant-FAC and placebo group, respectively. But the independent t-test showed no statistical significance (P = 0.47). CONCLUSION: We failed to show the superiority of plant-FAC to placebo on the pain and function of patients with osteoarthritis of the knee.
Assuntos
Humanos , Cápsulas , Complacência (Medida de Distensibilidade) , Gorduras , Ácidos Graxos , Joelho , Ontário , Osteoartrite , Osteoartrite do Joelho , Óleos de Plantas , Amido , Verduras , CerasRESUMO
BACKGROUND: Previous study suggested that beef tallow extract including cis-9-cetylmyristoleate was a safe and effective treatment for patients with osteoarthritis. We used extract of vegetable oils containing cetyl myristoleate. This study assessed the effect of this supplementation on knee pain and function in patients with osteoarthritis. METHODS: The 70 patients who manifested the symptoms and signs of osteoarthritis of knee were randomly assigned to placebo (36) and plant-fatty acids complex (FAC) group (34). Two capsules of placebo (corn starch 350 mg) and plant-FAC (12% cetyl myristoleate in 350 mg) were orally administered to placebo and plant-FAC group three times a day for 60 day, respectively. Visual analogue scale (VAS) and Korean version of Western Ontario and McMaster's Universities Osteoarthritis Index (KWOMAC) were assessed before and after the intervention and we monitored any adverse effects. RESULTS: The 6 of 36 patients (16.7%) in the placebo and the 5 of 34 patients (14.7%) in the plant-FAC group were missed due to low compliance. In the plant-FAC group, the VAS score was improved by mean 0.76 (P = 0.03) but the improvement was lower than that of placebo group. The KWOMAC was improved by mean 8.90 and 8.13 in the plant-FAC and placebo group, respectively. But the independent t-test showed no statistical significance (P = 0.47). CONCLUSION: We failed to show the superiority of plant-FAC to placebo on the pain and function of patients with osteoarthritis of the knee.
Assuntos
Humanos , Cápsulas , Complacência (Medida de Distensibilidade) , Gorduras , Ácidos Graxos , Joelho , Ontário , Osteoartrite , Osteoartrite do Joelho , Óleos de Plantas , Amido , Verduras , CerasRESUMO
PURPOSE: Pupillary examination is an important objective method to diagnose lesions of the anterior visual pathways. However, errors and faults may easily alter the interpretation and value of the test as it is highly dependent on the examiner's skills. Therefore, we tried to develop a pupillography which is independent of the examiner. METHODS: Hardware composed of a binocularly measuring instrument adapted for an infrared charge coupled device (CCD) was developed. Two arrays of infrared light emitting diodes (LED) were supplied in front of each of the subject's eyes. A microcontroller to modulate these LED was developed, as was software to save and analyze the pupil images. The hardware was able to deliver a light to either eye or to both eyes, and to change the time, frequency, and intensity of the stimulus. The software automatically analyzed the pupil size and location by image processing. Pupil size was calculated continuously. After artifact elimination, the response amplitudes of the pupils were determined for the right and left pupils. RESULTS: Pupillary images of size 320 x 240, at 30 frames/second, were saved and processed to evaluate the change of the actual pupil size and the velocity of pupillary response. CONCLUSIONS: A pupillography to measure, save and analyze the pupillary response using image processing was developed. Further detailed clinical studies with a large number of patients will be required to validate this new method.
Assuntos
Humanos , Técnicas de Diagnóstico Oftalmológico/instrumentação , Desenho de Equipamento , Processamento de Imagem Assistida por Computador , Reflexo PupilarRESUMO
PURPOSE: To investigate the characteristics of congenital and acquired color vision defects with Seohan computerized hue test and SNU (Seoul National University) computerized color test and to help to discriminate between congenital and acquired color vision defect METHODS: from June 2003 to January 2004, patient with congenital and acquired color vision defect and visual acuities more than 20/30 underwent Seohan computerized hue and SNU computerized color tests. Their results were compared with each other. Quadrant analysis and RQ calculation were done. RESULTS: On Seohan computerized hue and SNU computerized color tests, congenital color vision defects showed mainly red-green color vision defects (p<0.01, paired t-test) while acquired color vision defects showed blue-yellow color vision defect(p<0.01, paired t-test). RQ had 95% sensitivity and 98% specificity with a standard of 1.5 by Seohan computerized hue test, and 96% sensitivity and 98% specificity with standard of 1.0 by SNU computerized color test, for the discrimination of congenital and acquired color vision defects (ROC curve, confidence interval 95%). CONCLUSIONS: Seohan computerized hue and SNU computerized color tests were effective to classify types of color vision defects and discriminate between the congenital and acquired color vision defects.
Assuntos
Humanos , Defeitos da Visão Cromática , Visão de Cores , Intervalos de Confiança , Discriminação Psicológica , Sensibilidade e Especificidade , Acuidade VisualRESUMO
BACKGROUND AND OBJECTIVES: Aims of the study were to determine if the somatosensory input influences on vertical perception by comparing the results with the head or body tilted (15Degree to the right and to the left, and to examine the influence of tactile sensation in the perception of verticality in head lateral positions. MATERIALS AND METHOD: We tested 34 normal subjects in their ability to set a straight line to the perceived gravitational vertical. Measurements were taken in static conditions, sitting upright, head tilted (15Degree, body tilted (15Degree, and head lateral positions (90Degree on the right/left sides with or without physical support under the head. RESULTS: The normal range of the subjective visual vertical (SVV) was 0.65Degree/-.23Degreein upright position. The normal ranges of SVV in head-tilts 15Degreeto the left/right sides were -0.47Degree/-.76Degreeand 1.88Degree/-.94Degree which were significantly different from those in upright position (E-effect). But the normal ranges of SVV in body-tilts 15Degreeto the left/right were not different from those in upright position. And the normal ranges of SVV in head lateral positions maintained actively and passively were not different each other, but significantly larger than that in upright position (A-effect). CONCLUSION: Our results support that neck somatosensory input plays a part in the perception of verticality. In contrast, tactile sensation of the head had no effect on the settings of a visual line to visual vertical in head lateral positions.
Assuntos
Cabeça , Pescoço , Membrana dos Otólitos , Valores de Referência , SensaçãoRESUMO
PURPOSE: To investigate the color vision defect in diabetic patients using the SNU computerized color test (SCCT). METHODS: From May to September 2003, diabetic patients with visual acuity 0.6 or better underwent various examinations including biomicroscopy, fundus photography, Ishihara color test, Hardy?Rand?Rittler (HRR) test, Seohan computerized hue test (SCHT), and SNU computerized color test. The SCCT was developed by using the Matlab 6.0 program. RESULTS: A total of 160 eyes of 82 diabetic patients were included. Thirty-two patients had no diabetic retinopathy, 19 had mild nonproliferative diabetic retinopathy (NPDR), 12 had moderate NPDR, 12 had severe NPDR, and 7 had proliferative diabetic retinopathy (PDR). In the all diabetic patients, the average total error score (TES) of SCHT was 189 and that of SCCT was 8.5; in patients without diabetic retinopathy, the scores were 125 and 3.64; in patients with mild NPDR, 185 and 8.16; in patients with moderate NPDR, 209 and 11.1; in patients with severe NPDR, 288 and 15.6 ; and in patients with PDR, 324 and 17.6 respectively. On the HRR test, patients without diabetic retinopathy had 1 tritan defect; those with mild NPDR 2 tritan, 2 protan, and 2 deutan defects: those with moderate NPDR, no color defects ; and those with severe NPDR, 2 tritan, and 2 protan defects, and 1 deutan defect. CONCLUSIONS: In diabetic patients, TES of SCHT and SCCT was higher according to the severity of diabetic retinopathy. SCHT and SCCT were more useful than HRR test.
Assuntos
Humanos , Defeitos da Visão Cromática , Visão de Cores , Retinopatia Diabética , Fotografação , Acuidade VisualRESUMO
PURPOSE: In order to investigate the incidence of relative afferent pupillary defect (RAPD) in normal adolescence and if there is any interocular difference in the case with RAPD. METHODS: Fifty-eight adolescence in 14 to 36 years of age who showed normal findings on measurement of visual acuity, intraocular pressure, slit lamp examination, and funduscopic examination except refractive errors underwent swinging flashlight test and infrared pupillography. The case with RAPD further underwent optical coherence tomography, color vision test, Humphrey visual field test, and Bryngelson test (hole-in-the-card test). RESULTS: One out of 58 cases, in whom more pronounced myopic astigmatism and lower mean deviation on Humphrey visual field test within normal limits were found, showed RAPD in the dominant right eye with swinging flashlight test and infrared pupillography. CONCLUSIONS: The incidence of RAPD in normal adolescence was 1.7%. Myopic astigmatism was higher in the eye with RAPD.
Assuntos
Adolescente , Humanos , Astigmatismo , Visão de Cores , Incidência , Pressão Intraocular , Distúrbios Pupilares , Erros de Refração , Tomografia de Coerência Óptica , Acuidade Visual , Testes de Campo VisualRESUMO
PURPOSE: This study was designed to investigate the characteristics and classification of congenital color vision deficiency (CVD) by the SNU computerized color test (SCCT) that was developed to sufficiently utilize the advantages of a computer. METHODS: Hardy-Rand-Rittler test (HRR test), Nagel anomaloscope and SCCT were performed on 60 eyes of 30 CVD patients and 30 normal subjects and the results were compared. RESULTS: In normal subjects, the error scores were all zero at all colors by SCCT. By SCCT protan color defectives showed a peak at hue 0 red in 7 eyes (29.2%), at hue 150 green in 3 eyes (12.5%), at hue 180 green in 18 eyes (75%), and at hue 330 red in 2 eyes (8.3%). By SCCT, deutan color defectives showed a peak at hue 0 red in 2 eyes (5.6%), at hue 150 green in 24 eyes (66.7%), at hue 180 green in 2 eyes (5.6%), and at hue 330 red in 23 eyes (63.9%). CONCLUSIONS: SCCT showed specific axes in CVD patients, with accuracy and high sensitivity to diagnosis. SCCT appears to be useful clinically as a color vision test to diagnose and classify CVD patients.
Assuntos
Humanos , Classificação , Defeitos da Visão Cromática , Visão de Cores , DiagnósticoRESUMO
PURPOSE: The objective of this study was to investigate the use of cultured rib perichondrial cells embedded in alginate bead on healing in a rabbit osteochondral defect model. The degree of articular cartilage repair was evaluated histologically, histomorphometrically, and biochemical characteristics of the neocartilage. MATERIALS AND METHODS: A single defect, 3.5 mm wide by 3 mm deep, was created in the weight bearing area of the medial femoral chondyle in thirty New Zealand rabbits. The right defect filled with two alginate beads embedded with rabbit rib perichondrial cells, the left defect was empty as the control. The animals were killed at 1, 3, and 12 months, and the repair tissues were examined histologically, and histomorphometric differences were evaluated by an image analysis system. The defects also were examined biochemically for the glycosaminoglycan (GAG) and type II collagen to compare the results with normal articular cartilage. RESULTS: The attachment of repair tissue with the surrounding host tissue was incomplete, many specimens exhibited degenerative changes in adjacent tissue over a post transplant time period. Histomorphometric results showed that the repair groups (0.24+/-0.11 mm, -26.97 (25.62 mm) was decreased in surface roughness, and depression than controls (0.32+/-0.06 mm, -48.73 (32.59 mm) at 12 months. Repair area, repair area ratio, and repair thickness of the repair groups (6.89+/-2.1 mm2, 39.5+/-19.5%, 0.11 (0.01 mm) were increased than controls (2.65+/-2.35 mm2, 2.85+/-2%, 0.09+/-0.04 mm) at 12 months. After 12 months, the content of GAGs of neocartilage (36.45 microgram/mg) was similar to those of normal artilcular cartilage (36.74 microgram/mg), the percentage of type II collagen of the neocartilage increased up to 95%. CONCLUSION: Transplanted rib perichondrial cells were seen to proliferate to fill the osteochodral defect with neocartilage. Histomorphometric analysis should allow a more quantitative described the degree of articular cartilage repair.
Assuntos
Animais , Coelhos , Cartilagem , Cartilagem Articular , Colágeno Tipo II , Depressão , Costelas , Suporte de CargaRESUMO
PURPOSE: To evaluate the clinical usefulness and its own characteristic of Seohan computerized 85-hue test(SCHT-85) which was developed by authors. METHODS: SCHT-85 was performed in 89 normal subjects and 41 subjects with color defects diagnosed by Hardy-Rand-Rittler test(HRR test) and Farnsworth Munsell 100-hue test(FM 100-hue test) and total error scores(TES) according to the age in normal subjects and TES and central cap in subjects with color defects were determined. RESULTS: In normal subjects, TES of SCHT-85 according to the age were slightly higher than those of FM 100-hue test and highly correlated with those of FM 100-hue test. TES of SCHT-85 were increased according to the degree of abnormality in the HRR test in subjects with color defects. TES of SCHT-85 were lower than those of FM 100-hue test in normal subjects and higher than those of FM 100-hue test in subjects with color defects. In subjects with color defects, the central cap of SCHT-80 showed the tendency to yellowgreen-purple axis in protan and green-bluepurple axis in deutan compared to that of FM 100-hue test. CONCLUSIONS: SCHT-85 is highly correlated with FM 100-hue test and seems to be more useful to differentiate normal subjects and subjects with color defects than FM 100-hue test.
Assuntos
Vértebra Cervical ÁxisRESUMO
The purpose of this study was to examine the correlation between self-efficacy and self-care of hemodialysis patients. The subjects consisted of 140 hemodialysis patients who underwent hemodialysis at 2 university hospital. The data were collected by used the self-efficacy tool developed by Kim Ju Hyune(1995) and the self-care tool developed by literature review and indepth open openended questions to 10 patients. Also, the questionnaire in cluded phusiologic data which collected through review of the patients' charts. The statistical analysis was used the SPSS program for frequency, mean, t-test, ANOVA and Pearson correlation. The results were as follows: 1. The mean score for general self-efficacy of hemodialysis patients was 3.103(1-4point) and there were significant differences according to perceived health. The mean score for specific self-efficacy of hemodialysis patients was 3.113 (1-4point) and there were significant differences according to perceived health, side effects and complications which related hemodialysis. 2. The mean score for self-care of hemodialysis patients was 3.822(1-5point) and there were significant differences according to marital status and economic level. 3. The relationship between general self-efficacy and self-care was a positive correlation(P=.000). The relationship between specific self-efficacy and self-care was a positive correlation(P=.000). In conclusion, this study revealed the level of self-efficacy and self-care, and the positive correlation between self-efficacy and self-care on hemodialysis patients. Therefore, intervention is needer to promote self-efficacy for self-care of hemodialysis patients. Considering the vulnerable self-care area same as checking blood pressure and weight, fluid restriction, social adjustment, exercise and rest, further studies should develop self-efficacy promoting programs for self-care of hemodialysis patients.
Assuntos
Humanos , Pressão Sanguínea , Estado Civil , Inquéritos e Questionários , Diálise Renal , Autocuidado , Ajustamento SocialRESUMO
Rhino-orbital mucormycosis is a rare fungal infection that involves paranasal sinus and orbits and usually presented as acute invasive fungal sinusitis or orbital apex syndrome. It often occurs in patients with poorly controlled diabetes mellitus especially during or following episode of diabetic ketoacidosis. If the condition is not treated, the fungal infection may disseminated into the brain and death usually occurs in a day to week. Exenteration is often needed as a therapy. We have experienced a case of rhino-orbital mucormycosis that presented as a orbital apex syndrome and confirmed by maxillary and periorbital soft tissue biopsy. A 56-year-old female suffered from diabetes mellitus for 3 years was admitted with rapidly progressive visual acuity loss and left hemi-facial numbness. She was treated with daily intravenous amphotericin B and intraconal amphotericin B irrigation and packing. Exenteration was not neccisated.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Anfotericina B , Biópsia , Encéfalo , Diabetes Mellitus , Cetoacidose Diabética , Hipestesia , Mucormicose , Órbita , Sinusite , Acuidade VisualRESUMO
There have been some case reports of the coexitence of extraadrenal pheochromocytoma and renal artery stenosis. Some reporters proposed that their coexistence may be associated through a common pathophysiological mechanism mediated by catecholamine secretion. Also some noted that trasient renal artery stenosis due to a spasm was induced by the catecholamines released from pheochromacytoma. We report a case of left paraaortic extraadrenal pheochromacytoma that had a transient oral captopril test positive result. After 5 days alpha-antagonist reduced the vasospastic response of catecholamines. After surgical removal of the tumor, plasma catecholamines and urinary vanillymandelic acid concentrations as well as the blood pressure level, were restored to normal.