Purpose: To review the clinical and laboratory features of patients with Wilson disease at diagnosis. Methods: In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed. Results: Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis. Conclusion: Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.
Kim, Dong Joo;Kim, Daeho;Lee, Jinbok;Kim, Yaeseul;Sohn, Sujin
Korean Journal of Psychosomatic Medicine
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v.28
no.1
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pp.53-62
/
2020
Objectives : This study investigated lifetime experiences of trauma, treatment retention, and psychiatric symptoms among outpatients with panic disorder after initiation of pharmacotherapy. Our research hypothesis was that panic patients with childhood trauma would display more severe symptoms and less treatment retention compared to those without such history. Methods : A total of 135 first-visit outpatients with DSM-IV panic disorder were approached during the period from March 2012 to August 2016. Fifty-three patients (39%) either refused or returned incomplete questionnaires, leading to a final sample size of 82. Participants completed the Trauma History Screen, the Beck Depression Inventory, the Beck Anxiety Inventory, and the Abbreviated PTSD checklist. Results : The number of lifetime trauma was significantly correlated with treatment retention (rho=-0.269, p=0.015). Among subtypes of trauma, only childhood physical abuse was significantly correlated with treatment retention (rho=-0.298, p=0.007). Conclusions : Our results indicated that psychological trauma, particularly of an interpersonal nature from childhood, can affect pharmacotherapy treatment retention in panic disorder. This may be mediated by poor patient-doctor relationships originating from trust issues among childhood trauma survivors or lack of perceived improvement due to the more severe symptoms and unfavorable course experienced by those with childhood trauma. Further studies are needed to explore the reasons for poor treatment adherence in this population.
Journal of the Korea Academia-Industrial cooperation Society
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v.19
no.4
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pp.472-480
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2018
This study was conducted to examine cognitive function and the ability for occupational participation in patients with mild and moderate dementia and to identify correlations between these two variables. The study investigated 95 dementia patients who visited a day care center in Daegu between September and November, 2017. Their detailed cognitive functions were examined using the Mini-Mental State Examination-Korean (MMSE-K) and the Korean Version of the Loewenstein Occupational Therapy Cognitive Assessment Geriatric population: LOTCA-G. Their occupational participation was measured using the Model of Human Occupation Screening Tool (MOHOST). The subjects' cognitive functions and abilities for occupational participation were analyzed using the descriptive statistics produced by the SPSS 20.0 program. In addition, Pearson correlation coefficient was used to analyze the correlations between the cognitive functions of the subjects and their abilities for occupational participation. The results of the study showed positive correlations between cognitive function and the ability for occupational participation of patients with mild and moderate dementia. Based on the results of this study, the evaluation of the patients with dementia and ability for occupational participation related to the cognitive function in establishing the therapeutic goal should be considered.
Objective : The purpose of this study was to investigate the effects of the IOPI articulator strength training program on articulator(tongue and lip) muscle strength, numbers of /l, s, ʨ/ articulation accuracy, articulatory numbers, articulation regularity and accuracy in the alternate motion rates, and sequential motion rate changes in patients with spastic dysarthria. Methods : Three cases of patients with spastic dysarthria living in Jeju, Korea, were included in this study. A single subject design was selected to study changes in articulator(tongue and lip) muscle strength, numbers of /ㄹ, ㅅ, ㅈ/ articulation accuracy, articulatory numbers, articulation regularity and accuracy in the alternate motion rates and sequential motion rates. Results : After the articulator strength training program was conducted on patients with spastic dysarthria, there were positive changes in articulator(tongue and lip) muscle strength, numbers of /ㄹ, ㅅ, ㅈ/ articulation accuracy, articulatory numbers, articulation regularity and accuracy on the alternate motion rates and sequential motion rates. Conclusion : Our findings suggest that IOPI articulator strength training program could be very useful for the most representative childeren with cerebral palsy if conducted in various subtypes of dysarthric patients and linked with articulatory function training with IOPI at home.
KIPS Transactions on Software and Data Engineering
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v.8
no.10
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pp.397-402
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2019
Accurately predicting cancer prognosis to provide appropriate treatment strategies for patients is one of the critical challenges in bioinformatics. Many researches have suggested machine learning models to predict patients' outcomes based on their gene expression data. Gene expression data is high-dimensional numerical data containing about 17,000 genes, so traditional researches used feature selection or dimensionality reduction approaches to elevate the performance of prognostic prediction models. These approaches, however, have an issue of making it difficult for the predictive models to grasp any biological interaction between the selected genes because feature selection and model training stages are performed independently. In this paper, we propose a novel two-dimensional image formatting approach for gene expression data to achieve feature selection and prognostic prediction effectively. Node2Vec is exploited to integrate biological interaction network and gene expression data and a convolutional neural network learns the integrated two-dimensional gene expression image data and predicts cancer prognosis. We evaluated our proposed model through double cross-validation and confirmed superior prognostic prediction accuracy to traditional machine learning models based on raw gene expression data. As our proposed approach is able to improve prediction models without loss of information caused by feature selection steps, we expect this will contribute to development of personalized medicine.
Purpose To evaluate the ability of the Hounsfield unit (HU) measurement of the femoral neck during multidetector computed tomography (MDCT) for assessing osteoporosis compared with dual-energy X-ray absorptiometry (DXA). Materials and Methods Forty-two patients with femoral neck fractures who underwent MDCT and DXA from July to December 2016 were included in this study. HU measurements were made of the cancellous portions of the normal contralateral femoral neck on MDCT. Bone mineral density (BMD) and T-scores were obtained at the femur DXA. Correlations of HU values with BMD and T-scores were analyzed using Spearman's correlation test. Results The mean BMD and T-score of the femoral neck were 0.650 g/cm2 and -2.4, respectively. The mean HU values for the normal, osteopenia, and osteoporosis groups were 131.9, 98.9, and 41.3, respectively. HU values at the femoral neck were positively correlated with BMD (r2 = 0.670; p < 0.001) and T-scores (r2 = 0.676; p < 0.001). Conclusion The HU values of the femoral neck on MDCT are significantly correlated with BMD and T-scores of femur DXA. The HU values may serve as a diagnostic tool for the screening of regional bone quality when MDCT is performed for other reasons.
Keonwoo Choi;Ji Young Choi;Hyuk Jung Kim;Hyun Jin Kim;Suk Ki Jang
Journal of the Korean Society of Radiology
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v.84
no.3
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pp.653-662
/
2023
Purpose This study aimed to determine the incremental value of using a structured report (SR) for US examinations of the pediatric appendix. Materials and Methods Between January 2009 and June 2016, 1150 pediatric patients with suspected appendicitis who underwent US examinations of the appendix were included retrospectively. In November 2012, we developed a five-point scale SR for appendix US examinations. The patients were divided into two groups according to the form of the US report: free-text or SR. The primary clinical outcomes were compared between the two groups, including the rate of CT imaging following US examinations, the negative appendectomy rate (NAR), and the appendiceal perforation rate (PR). Results In total, 550 patients were included in the free-text group and 600 patients in the SR group. The rate of additional CT examinations decreased by 5.3% in the SR group (8.2%, p = 0.003), and the NAR decreased by 8.4% in the SR group (7.8%, p = 0.028). There was no statistical difference in the appendiceal PR (37.6% vs. 48.0%, p = 0.078). Conclusion The use of an SR to evaluate US examinations for suspected pediatric appendicitis results in lower CT use and fewer negative appendectomies without an increase in appendiceal PR.
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($FEV_1$, $FEV_1%$ pred, FVC, and FVC% pred) were measured at first visiting. Results : Values of PIFn, $FEV_1$, 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 $41.4{\pm}15.9$ years. Normal subjects were 32(22 males and 10 females) and the mean age was $39.8{\pm}18.6$ 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($2.25{\pm}0.68\;L/sec$ vs. $2.75{\pm}1.00\;L/sec$ ; 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 (mean$\pm$SD ; $2.18{\pm}0.66$ vs. $2.75{\pm}1.00\;L/sec$, 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.
Background : Tumor angiogenesis is required for tumor growth and metastasis. In this study, we investigated the correlation between the intensity of angiogenesis and stage, nodal status, histologic type, metastasis and survival rate of non-small cell lung cancer. Method : Formalin fixed, paraffin embedded surgical specimens of 45 patients who had surgically resected primary non-small cell lung cancers without pre or post operative adjuvant chemotherapy or radiotherapy were examined. The microvessel count(MVC) was demonstrated by immunohistochemical staining for CD31(platelet endothelial cell adhesion molecule, PECAM). Results : Microvessel counts(MVCs) in stage IIIA and IIIB were higher than in stage I and II(p<0.05). The MVC in patients with lymph node metastasis was higher than that in patients without lymph node metastasis, although the difference was not statistically significant(p>0.05). However, in adenocarcinoma, the MVC in patients with lymph node metastasis was significantly higher than that seen in patients without lymph node metastasis(p<0.05). The MVC in adenocarcinoma was higher than that in squamous cell carcinoma(p<0.05). The difference between the MVCs of adenocarcinoma and squamous cell carcinoma was not statistically significant in stage I and II or N0 stage(p>0.05). However, in stage IIIA and IIIB or N1~3 stage, the MVC in adenocarcinoma was higher than that in squamous cell carcinoma(p<0.05). MVC was more increased when metastasis developed within 12 months. In the same histologic type and stage, the duration of survival time in patients with high MVC was shorter than in patients with low MVC, however the difference was not statistically significant(p>0.05). The survival rate in patients with high MVCs was lower than that in patients with low MVCs(P<0.05). Conclusion : In non-small cell lung cancer, MVC correlated relatively well with pathologic stage, nodal status(limited in patients with adenocarcinoma), histologic type, postoperative metastasis and survival rate. However, in the same histologic type and stage, MVC was not significantly related to the duration of survival. Therefore the assessment of the intensity of angiogenesis in non-small cell lung cancer may be helpful in predicting prognosis and in selecting patients for systemic adjuvant therapy of potential metastasis according to the results.
Park, Il Sung;Cho, Hye Jung;Lee, Dong Hwan;Song, Jung Hwan
Clinical and Experimental Pediatrics
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v.46
no.5
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pp.440-446
/
2003
Purpose : The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. Methods : We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed. Results : 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity. Conclusion : GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.
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