Yoon, Ja Kyoung;Ahn, Kyung Jin;Kwon, Bo Sang;Kim, Gi Beom;Bae, Eun Jung;Noh, Chung Il;Ko, Jung Min
Clinical and Experimental Pediatrics
/
v.58
no.7
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pp.256-262
/
2015
Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Hyo-Jin Kang;Jeong Min Lee;Jeong Hee Yoon;Jeongin Yoo;Yunhee Choi;Ijin Joo;Joon Koo Han
Korean Journal of Radiology
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v.23
no.11
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pp.1067-1077
/
2022
Objective: To determine whether Sonazoid-enhanced ultrasound (SZUS) was noninferior to SonoVue-enhanced ultrasound (SVUS) in diagnosing hepatocellular carcinoma (HCC) using the same diagnostic criteria. Materials and Methods: This prospective, single-center, noninferiority study (NCT04847726) enrolled 105 at-risk participants (71 male; mean age ± standard deviation, 63 ± 11 years; range, 26-86 years) with treatment-naïve solid hepatic nodules (≥ 1 cm). All participants underwent same-day SZUS (experimental method) and SVUS (control method) for one representative nodule per participant. Images were interpreted by three readers (the operator and two independent readers). All malignancies were diagnosed histopathologically, while the benignity of other lesions was confirmed by follow-up stability or pathology. The primary endpoint was per-lesion diagnostic accuracy for HCC pooled across three readers using the conventional contrast-enhanced ultrasound diagnostic criteria, including arterial phase hyperenhancement followed by mild (assessed within 2 minutes after contrast injection) and late (≥ 60 seconds with a delay of 5 minutes) washout. The noninferiority delta was -10%p. Furthermore, different time delays were compared as washout criteria in SZUS, including delays of 2, 5, and > 10 minutes. Results: A total of 105 lesions (HCCs [n = 61], non-HCC malignancies [n = 19], and benign [n = 25]) were evaluated. Using the 5-minutes washout criterion, per-lesion accuracy of SZUS pooled across the three readers (72.4%; 95% confidence interval [CI], 64.1%-79.3%) was noninferior to that of SVUS (71.4%; 95% CI, 63.1%-78.6%), meeting the statistical criterion for non-inferiority (difference of 0.95%p; 95% CI, -3.8%p-5.7%p). The arterial phase hyperenhancement combined with the 5-minutes washout criterion showed the same sensitivity as that of the > 10-minutes criterion (59.0% vs. 59.0%, p = 0.989), and the specificities were not significantly different (90.9% vs. 86.4%, p = 0.072). Conclusion: SZUS was noninferior to SVUS for diagnosing HCC in at-risk patients using the same diagnostic criteria. No significant improvement in HCC diagnosis was observed by extending the washout time delay from 5 to 10 minutes.
Kim, Jung Mi;Choe, Byung-Ho;Jang, You Cheol;Oh, Ki Won;Cho, Min Hyun;Lee, Kyung Hee;Park, Jin-Young;Kim, Heng Mi
Clinical and Experimental Pediatrics
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v.49
no.7
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pp.737-744
/
2006
Purpose : To assess the usefulness of $^{99m}Tc-DISIDA$ scanning in the early evaluation of neonatal cholestasis and to verify the diagnostic value of this test in the differential diagnosis of biliary atresia. Methods : DISIDA scannings were performed and analyzed in 87 children(58 males and 29 females; age, 18-139 days, mean, 59.1 days) with neonatal cholestasis. Five groups according to the final diagnosis and the results of DISIDA scanning were analyzed by scatter plots using the parameters of age and the level of liver function tests(direct bilirubin, AST, ALT, ALP, GGT). The diagnostic sensitivity, specificity and accuracy of DISIDA scanning in the diagnosis of biliary atresia were compared between a higher bilirubin group and a lower bilirubin group(direct bilirubin level >5 mg/dL vs. <5 mg/dL) decided by the pattern of scatter plots. Results : DISIDA scannings in the diagnosis of biliary atresia were analyzed by high sensitivity(100 percent, 16/16) but lower specificity(70.4 percent, 50/71) and accuracy(75.9 percent, 66/87). False positivity(29.6 percent, 21/71) was higher in patients with a higher direct bilirubin level(42.5 percent for >5 mg/dL vs. 9.7 percent for <5 mg/dL, P<0.01). The age and the level of liver function tests(AST, ALT, ALP, GGT) analyzed by scatter plots revealed neither diagnostic value in predicting final diagnosis nor estimated the accuracy rate of DISIDA scanning in the evaluation of neonatal cholestasis. Conclusion : We suggest that DISIDA scannings should not be routinely used in evaluating neonatal cholestasis with elevated direct bilirubin level(>5 mg/dL), especially if it delays early diagnosis and surgical intervention.
Jeong, Ina;Heo, Eun Young;Lee, Jae Seok;Yoon, Ho Il;Lee, Jae Ho;Lee, Choon-Taek;Kang, Young Ae
Tuberculosis and Respiratory Diseases
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v.65
no.2
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pp.147-151
/
2008
Non-resolving or slowly resolving pulmonary infiltrates in spite of administering adequate antimicrobial therapy are a clinical diagnostic challenge for physicians. The rate of radiographic resolution varies with the patients' age, the underlying comorbidities, the extent of radiographic involvement, the functional status and the causal pathogens. It is important to differentiate non-resolving or slowly resolving bacterial pneumonia from other uncommon infectious pneumonias or malignancies that require invasive diagnostic techniques to confirm the diagnosis. Bronchioloalveolar carcinoma can present with various clinical and radiographic features. Unfortunately, the radiographic similarity of consolidative BAC to pneumonia often leads to an incorrect diagnosis of pneumonia and possibly significant delays in obtaining appropriate diagnostic studies. We describe here a case of a mixed adenocarcinoma and bronchioloalveolar carcinoma that was initially diagnosed as pneumonia due to the consolidation pattern on the radiography and the patient's initial improvement with antibiotic treatment.
Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2-47 months of age). All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feeding problems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.
Khokher, Samina;Qureshi, Muhammad Usman;Chaudhry, Naseer Ahmad
Asian Pacific Journal of Cancer Prevention
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v.13
no.7
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pp.3213-3218
/
2012
When patients with advanced breast cancer (ABC) are treated with neoadjuvant chemotherapy (NACT), efficacy is monitored by the extent of tumor shrinkage. Since their publication in 1981, World Health Organization (WHO) guidelines have been widely practiced in clinical trials and oncologic practice, for standardized tumor response evaluation. With advances in cancer treatment and tumor imaging, a simpler criterion based on one-dimensional rather than bi-dimensional (WHO) tumor measurement, named Response Evaluation Criteria in Solid Tumors (RECIST) was introduced in 2000. Both approaches have four response categories: complete response, partial response, stable disease and progressive disease (PD). Bi-dimensional measurement data of 151 patients with ABC were analysed with WHO and RECIST criteria to compare their response categories and inter criteria reproducibility by Kappa statistics. There was 94% concordance and 9/151 patients were recategorized with RECIST including 6/12 PD cases. RECIST therefore under-estimates and delays diagnosis of PD. This is undesirable because it may delay or negate switch over to alternate therapy. Analysis was repeated with a new criteria named RECIST-Breast (RECIST-B), with a lower threshold for PD (${\geq}10%$ rather than ${\geq}20%$ increase of RECIST). This showed higher concordance of 97% with WHO criteria and re-categorization of only 4/151 patients (1/12 PD cases). RECIST-B criteria therefore have advantages of both ease of measurement and calculations combined with excellent concordance with WHO criteria, providing a practical clinical tool for response evaluation and offering good comparison with past and current clinical trials of NACT using WHO guidelines.
Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.33
no.2
/
pp.35-40
/
2022
Objectives: Restricted and repetitive behaviors (RRBs) are a core symptom in the diagnosis of autism spectrum disorder (ASD). The complexity of behavioral patterns has called for the creation of phenotypically homogeneous subgroups among individuals with ASD. The purpose of this study was 1) to investigate the different types of RRBs and 2) to explore whether subgroups created by RRBs would show unique levels of functioning in toddlers and young children with ASD. Methods: A total of 313 children with ASD, aged 12-42 months were included in the analysis. The Autism Diagnostic Interview-Revised was used to obtain information on the different types of RRBs by grouping 15 items into six categories. The Vineland Adaptive Behaviors Scale, a parent-reported questionnaire, was used to measure adaptive functioning. A portion of the children were analyzed separately for verbal-related RRBs based on their expressive language level. Two-step cluster analysis using RRB groups as features was used to create subgroups. Analysis of covariance while covarying for age and language was performed to explore the clinical characteristics of each cluster group. Results: Sensory-related RRBs were the most prevalent, followed by circumscribed interests, interest in objects, resistance to change, and repetitive body movements. A subset of the children was analyzed separately to explore verbal-related RRBs. Four cluster groups were created based on reported RRBs, with multiple RRBs demonstrating significant delays in adaptive functioning. Conclusion: Heterogeneity of RRBs emerges at a young age. The different patterns of RRBs can be used as valuable information to determine developmental trajectories with better implications for treatment approaches.
Kim, Yong-Soon;Park, Jee-Won;Park, Yon-Ok;Cho, Eun-Sook;Kim, Myung-Wook
Quality Improvement in Health Care
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v.2
no.2
/
pp.32-45
/
1996
Background : A critical path defines an optimal sequencing and timing of interventions by physicians, nurses, and other staff for a particular diagnosis or procedure, designed to better utilize resources, maximize quality of care, and minimize delays. It can be thought of as a visualization of the patient care process. In this study, a review of appendectomy patient records was undertaken to identify a critical path for the management of this treatment. Methods: For this study, records of patients under 15 or over 65 years of age were excluded ; cases where the patient was pregnant, or where complications developed were also excluded. The remaining 21 cases were divided into two categories according to the indication for appendectomy : for acute appendicitis, and for perforated appendix or drainage of periappendical abscess. The time frame for the review was from patient examination immediately prior to operation, through discharge. The study team was composed of a surgeon, research head nurse, education head nurse, surgical part head nurse, and medical recorder. Following their review of the 21 charts, the team determined an appropriate progression and schedule for an appendectomy. Result : Through the chart and literature review, the following aspects of the care process were identified as typical and tracked : monitoring/assessment, treatment, lines/drains, medication, activity, diet, tests and patient education. Conclusion : From this study, the design team determined two separate critical paths : one for appendectomy only, and one for appendectomy plus drainage. Next, these paths must be validated and fine-tuned through clinical implementation. In addition, a comparison of our design with the critical paths determined at other hospitals would be extremely valuable for advancing research in this area. Lastly, the critical path approach to improving patient care and maximizing hospital resources should be applied to other procedures.
Arshad, Muhammad Zeeshan;Nawaz, Javeria;Park, Jin-Su;Shin, Sung-Won;Hong, Sang-Jeen
Proceedings of the Korean Vacuum Society Conference
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2012.02a
/
pp.241-241
/
2012
Semiconductor industry has been taking the advantage of improvements in process technology in order to maintain reduced device geometries and stringent performance specifications. This results in semiconductor manufacturing processes became hundreds in sequence, it is continuously expected to be increased. This may in turn reduce the yield. With a large amount of investment at stake, this motivates tighter process control and fault diagnosis. The continuous improvement in semiconductor industry demands advancements in process control and monitoring to the same degree. Any fault in the process must be detected and classified with a high degree of precision, and it is desired to be diagnosed if possible. The detected abnormality in the system is then classified to locate the source of the variation. The performance of a fault detection system is directly reflected in the yield. Therefore a highly capable fault detection system is always desirable. In this research, time series modeling of the data from an etch equipment has been investigated for the ultimate purpose of fault diagnosis. The tool data consisted of number of different parameters each being recorded at fixed time points. As the data had been collected for a number of runs, it was not synchronized due to variable delays and offsets in data acquisition system and networks. The data was then synchronized using a variant of Dynamic Time Warping (DTW) algorithm. The AutoRegressive Integrated Moving Average (ARIMA) model was then applied on the synchronized data. The ARIMA model combines both the Autoregressive model and the Moving Average model to relate the present value of the time series to its past values. As the new values of parameters are received from the equipment, the model uses them and the previous ones to provide predictions of one step ahead for each parameter. The statistical comparison of these predictions with the actual values, gives us the each parameter's probability of fault, at each time point and (once a run gets finished) for each run. This work will be extended by applying a suitable probability generating function and combining the probabilities of different parameters using Dempster-Shafer Theory (DST). DST provides a way to combine evidence that is available from different sources and gives a joint degree of belief in a hypothesis. This will give us a combined belief of fault in the process with a high precision.
Kim, Jehun;Oak, Chul-Ho;Jang, Tae-Won;Jung, Mann-Hong
Journal of Yeungnam Medical Science
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v.35
no.1
/
pp.114-120
/
2018
Tracheal tumors are rare and difficult to diagnose. Moreover, delays in diagnosis are very common because the symptoms are nonspecific. As a result, tracheal tumors are commonly mistreated as chronic obstructive pulmonary disease or bronchial asthma. We report a case of a 49-year-old male who presented with a 3-month history of dyspnea and cough. Chest computed tomography scan showed a $1.5{\times}1.3cm$ homogenous tumor originating from the right lateral wall of the tracheobronchial angle into the tracheal lumen as well as a $0.5{\times}0.4cm$ round nodular lesion at the right upper lobe with multiple mediastinal lymph nodes enlargement. Bronchoscopic findings revealed a broad-based, polypoid lesion nearly obstructing the airway of the right main bronchus. The patient was diagnosed with pleomorphic adenoma which is the most common benign tumor of the salivary glands, but rarely appears in the trachea. Upon surgery, tracheal pleomorphic adenoma and co-existing active pulmonary tuberculoma that had been mistreated as bronchial asthma over 3 months was revealed. Following surgery, the patient underwent anti-tuberculosis treatment. No recurrence has been detected in the 3 years since treatment and the patient is now asymptomatic.
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