• Journal of Genetic Medicine
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• v.17 no.1
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• pp.11-15
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• 2020

Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. Materials and Methods: NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. Results: Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12⁺¹ (9⁺³ to 27⁺¹) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. Conclusion: NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.2
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• pp.219-229
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• 2016

Fatty liver is a common metabolic disorder of dairy cows during the transition period. Historically, the diagnosis of fatty liver has involved liver biopsy, biochemical or histological examination of liver specimens, and ultrasonographic imaging of the liver. However, more convenient and noninvasive methods would be beneficial for the diagnosis of fatty liver in dairy cows. The plasma metabolic profiles of dairy cows with fatty liver and normal (control) cows were investigated to identify new biomarkers using $^1H$ nuclear magnetic resonance. Compared with the control group, the primary differences in the fatty liver group included increases in ${\beta}$-hydroxybutyric acid, acetone, glycine, valine, trimethylamine-N-oxide, citrulline, and isobutyrate, and decreases in alanine, asparagine, glucose, ${\gamma}$-aminobutyric acid glycerol, and creatinine. This analysis revealed a global profile of endogenous metabolites, which may present potential biomarkers for the diagnosis of fatty liver in dairy cows.

• The Journal of Pediatrics of Korean Medicine
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• v.14 no.1
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• pp.197-204
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• 2000

Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected-the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle-and then on the determination of the etiology and specific clinical entity. Spinal muscular atrophy(SMA) is the most common autosomal-recessive genetic disorder lethal to infants. The three major childhood-onset forms of SMA are now usually called type I, type II and typeⅢ. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis. Diagnosis is based on the course of the illness, as well as certain changes seen on nerve and muscle biopsy and electrodiagnostic studies. More recently, our understanding of the genetics of this disorder has provided a noninvasive approach to diagnosis. We report on a 3-year-old male patient with spinal muscular atrophy type II. He had progressive muscular weakness since 18 months of age. The upper arms were slightly, and the thighs moderately atrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. Electromyogram revealed a neurogenic pattern.

• The Korean Journal of Nuclear Medicine
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• v.23 no.2
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• pp.201-207
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• 1989

Patients with acute pyleonephritis may present with a spectrum of clinical symptoms and signs. There are few noninvasive diagnostic studies, however, to confirm or exclude this diagnosis. To evaluate the clinical utility of $^{99m}Tc-DMSA$ renal scan in diagnosis of acute pyelonephritis, we performed $^{99m}Tc-DMSA$ renal scan in 37 patients suspected with urinary tract infection. Simultaneously, kidney ultrasonography was done in 21 patients diagnosed with acute pyelonephritis, clinically. And we performed the followup scan after treatment in two to six weeks. The results were as follows: 1) $^{99m}Tc-DMSA$ renal scan disclosed single or multiple cortical defects and decreased radiouptake ratio of affected kidney in 23 patients among 25 patients diagnosed with acute pyleonephritis. 2) In the 21 patients with acute pyelonephritis, kidney ultrasonography showed abnormal finding in the 7 patients. And $^{99m}Tc-DMSA$ renal scan disclosed abnormal cortical defects in this 7 patients also. 3) Between the patients with acute pyelonephritis and those with lower urinary tract infection, asymptomatic bacteriuria or pyuria. right-to-left radiouptake ratios (R/L ratio) were significantly different (p < 0.001). 4) In two to six weeks after antibiotic therapy, we performed followup $^{99m}Tc-DMSA$ renal scan for 5 patients among 25 acute pyelonephritis patients. And we have found the improvement of cortical defects and the right-to-left radiouptake ratio. In conclusion, we thought that $^{99m}Tc-DMSA$ renal scan should be useful in diagnosis of acute pyelonephritis and follow-up examination.

• Journal of the Korean Society of Radiology
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• v.81 no.2
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• pp.250-271
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• 2020

Assessment of myocardial ischemia in patients with stable angina is important in deciding whether to treat coronary artery disease and in predicting clinical outcome. The fractional flow reserve is a standard reference for the diagnosis of myocardial ischemia, but this procedure has limitations because of its invasiveness. Coronary computed tomography angiography (CCTA) is now an established tool in the anatomic diagnosis of coronary artery disease; however, there are limits to the diagnosis of hemodynamically important stenosis that causes myocardial ischemia. In order to address this problem, studies using quantification of coronary atherosclerotic plaques, myocardial perfusion, and noninvasive calculation of fractional flow reserve based on CCTA have been actively conducted and recognized for their diagnostic value. In this review, several imaging techniques of CCTA used to assess myocardial ischemia are described.

• Journal of Sensor Science and Technology
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• v.33 no.2
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• pp.112-116
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• 2024

Gas-sensor technology for volatile organic compounds (VOC) biomarker detection offers significant advantages for noninvasive diagnostics, including rapid response time and low operational costs, exhibiting promising potential for disease diagnosis. Colorimetric gas sensors, which enable intuitive analysis of gas concentrations through changes in color, present additional benefits for the development of personal diagnostic kits. However, the traditional method of visually monitoring these sensors can limit quantitative analysis and consistency in detection threshold evaluation, potentially affecting diagnostic accuracy. To address this, we developed a machine vision platform based on metal-organic framework (MOF) for colorimetric gas sensor arrays, designed to accurately detect disease-related VOC biomarkers. This platform integrates a CMOS camera module, gas chamber, and colorimetric MOF sensor jig to quantitatively assess color changes. A specialized machine vision algorithm accurately identifies the color-change Region of Interest (ROI) from the captured images and monitors the color trends. Performance evaluation was conducted through experiments using a platform with four types of low-concentration standard gases. A limit-of-detection (LoD) at 100 ppb level was observed. This approach significantly enhances the potential for non-invasive and accurate disease diagnosis by detecting low-concentration VOC biomarkers and offers a novel diagnostic tool.

• Tuberculosis and Respiratory Diseases
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• v.46 no.4
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• pp.564-573
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• 1999

Background: With variable symptoms and nonspecific radiographic appearances, pulmonary embolism (PE) is a frequent and often undiagnosed cause of mortality and morbidity. The Prospective Investigation of Pulmonary Embolism Diagnosis (PIOPED) study suggested that the majority of patients undergoing ventilation-perfusion (V-Q) scan would require additional studies to establish or to exclude the diagnosis of PE. Pulmonary angiography has been regarded as gold standard for diagnosis of PE. However, it is an invasive procedure that may be associated with significant notable morbidity and mortality. Thus, availability of an accurate, noninvasive screening examination is highly desirable. Method: From October 1994 to February 1997, twenty patients (male 13, female 7, range 23-91 years, median 58 years) who were suspected as pulmonary embolism on the basis of clinical evidence and underwent the spiral volumetric computed tomography (spiral CT), were studied retrospectively to evaluate the effectiveness of spiral CT as a diagnostic tool in PE. Results: PE could be excluded with spiral CT in 4 patients ; diagnoses of these patients were lung cancer, pneumonia with lung abscess, bilateral pleural effusion due to congestive heart failure, nonspecific pulmonary abnormality retrospectively. One patient who disclosed high probability in V/Q scan, could be diagnosed as pneumonia with lung abscess and underlying emphysema with spiral CT. Among 4 patients who showed intermediate and low probability in V/Q scan, 3 patients could be confirmed as PE with spiral CT. Spiral CT was helpful in 3 patients, in whom V/Q scan could not be performed due to other reasons (e.g. night time, mechanical ventilation) to confirm the diagnosis of PE. Spiral CT could demonstrate embolus above lobar artery level in 11 patients, and up to segmental artery level in 5 patients. Conclusion: This study demonstrated that spiral CT could allow accurate demonstration of thrombotic clots in centrally localized embolism. Spiral CT could be effective, specific, noninvasive and useful diagnostic screening modality for the diagnosis of pulmonary embolism.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.3595-3604
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• 2015

Hepatocellular carcinoma (HCC) has been one of the most fatal malignant tumors worldwide and its associated morbidity and mortality remain of significant concern. Based on in-depth reviews of serological diagnosis of HCC, in addition to AFP, there are other biomarkers: Lens culinaris agglutinin-reactive AFP (AFP-L3), descarboxyprothrombin (DCP), tyrosine kinase with Ig and eprdermal growth factor (EGF) homology domains 2 (TIE2)-espressing monocytes (TEMs), glypican-3 (GPC3), Golgi protein 73 (GP73), interleukin-6 (IL-6), and squamous cell carcinoma antigen (SCCA) have been proposed as biomarkers for the early detection of HCC. The diagnosis of HCC is primarily based on noninvasive standard imaging methods, such as ultrasound (US), dynamic multiphasic multidetector-row CT (MDCT) and magnetic resonance imaging (MRI). Some experts advocate gadolinium diethyl-enetriamine pentaacetic acid (Gd-EOB-DTPA) MRI and contrast-enhanced US as the promising imaging madalities of choice. With regard to recent advancements in tissue markers, many cuting-edge technologies using genome-wide DNA microarrays, qRT-PCR, and proteomic and inmunostaining studies have been implemented in an attempt to identify markers for early diagnosis of HCC. Only less than half of HCC patients at initial diagnosis are at an early stage treatable with curative options: local ablation, surgical resection, or liver transplant. Transarterial chemoembolization (TACE) is considered the standard of care with palliation for intermediate stage HCC. Recent innovative procedures using drug-eluting-beads and radioembolization using Yttrium-90 may exhibit beneficial effects in HCC treatment. During the past few years, several molecular targeted agents have been evaluated in clinical trials in advanced HCC. Sorafenib is currently the only approved systemic treatment for HCC. It has been approved for the therapy of asymptomatic HCC patients with well-preserved liver function who are not candidates for potentially curative treatments, such as surgical resection or liver transplantation. In the USA, Europe and particularly Japan, hepatitis C virus (HCV) related HCC accounts for most liver cancer, as compared with Asia-Pacific regions, where hepatitis B virus (HBV) may play a more important role in HCC development. HBV vaccination, while a vaccine is not yet available against HCV, has been recognized as a best primary prevention method for HBV-related HCC, although in patients already infected with HBV or HCV, secondary prevention with antiviral therapy is still a reasonable strategy. In addition to HBV and HCV, attention should be paid to other relevant HCC risk factors, including nonalcoholic fatty liver disease due to obesity and diabetes, heavy alcohol consumption, and prolonged aflatoxin exposure. Interestingly, coffee and vitamin K2 have been proven to provide protective effects against HCC. Regarding tertiary prevention of HCC recurrence after surgical resection, addition of antiviral treatment has proven to be a rational strategy.

• Journal of Biomedical Engineering Research
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• v.42 no.4
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• pp.150-158
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• 2021

Intracranial hemorrhage (ICH) refers to acute bleeding inside the intracranial vault. Not only does this devastating disease record a very high mortality rate, but it can also cause serious chronic impairment of sensory, motor, and cognitive functions. Therefore, a prompt and professional diagnosis of the disease is highly critical. Noninvasive brain imaging data are essential for clinicians to efficiently diagnose the locus of brain lesion, volume of bleeding, and subsequent cortical damage, and to take clinical interventions. In particular, computed tomography (CT) images are used most often for the diagnosis of ICH. In order to diagnose ICH through CT images, not only medical specialists with a sufficient number of diagnosis experiences are required, but even when this condition is met, there are many cases where bleeding cannot be successfully detected due to factors such as low signal ratio and artifacts of the image itself. In addition, discrepancies between interpretations or even misinterpretations might exist causing critical clinical consequences. To resolve these clinical problems, we developed a diagnostic model predicting intracranial bleeding and its subtypes (intraparenchymal, intraventricular, subarachnoid, subdural, and epidural) by applying deep learning algorithms to CT images. We also constructed a visualization tool highlighting important regions in a CT image for predicting ICH. Specifically, 1) 27,758 CT brain images from RSNA were pre-processed to minimize the computational load. 2) Three different CNN-based models (ResNet, EfficientNet-B2, and EfficientNet-B7) were trained based on a training image data set. 3) Diagnosis performance of each of the three models was evaluated based on an independent test image data set: As a result of the model comparison, EfficientNet-B7's performance (classification accuracy = 91%) was a way greater than the other models. 4) Finally, based on the result of EfficientNet-B7, we visualized the lesions of internal bleeding using the Grad-CAM. Our research suggests that artificial intelligence-based diagnostic systems can help diagnose and treat brain diseases resolving various problems in clinical situations.

• Clinical and Experimental Pediatrics
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• v.57 no.8
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• pp.351-356
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• 2014

Purpose: Among the many factors associated with acute intestinal mucosal infection, numerous studies have proposed the usefulness of fecal calprotectin. The aim of this study was to evaluate the usefulness of fecal calprotectin in the diagnosis of necrotizing enterocolitis (NEC). Methods: We collected 154 stool samples from 16 very low birth weight and premature newborns at the Konyang University Hospital neonatal intensive care unit or neonatal nursery. The stool samples were collected using the Calprest device, and the fecal calprotectin level was measured with the $B\ddot{U}HLMANN$ Calprotectin enzyme-linked immunosorbent assay kit. Results: Fecal calprotectin levels were significantly higher in the NEC group than in the non-NEC group (P=0.02). There was a significant positive linear relationship between the fecal calprotectin level and number of days after birth (P=0.00) in the gestational age <26 weeks group. There was a significant negative linear relationship between the calprotectin level and number of days after birth (P=0.03) in the gestational age ${\geq}26$ weeks and <30 weeks group. There was no difference in the calprotectin levels according to the type and method of feeding between the NEC and non-NEC groups. Conclusion: Fecal calprotectin levels were significantly increased in premature infants with NEC. The fecal calprotectin test is a noninvasive, easy, and useful tool for the diagnosis of NEC.