Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.
Do, Yong Ho;Lee, Hong Jae;Kim, Jin Eui;Noh, Gyeong Woon
The Korean Journal of Nuclear Medicine Technology
/
v.22
no.1
/
pp.15-22
/
2018
Purpose Respiratory motion during PET/MRI acquisition may result in image blurring and error in measurement for volume and quantification of lesion. The aim of this study was to evaluate changes of quantitative accuracy, tumor size and image quality by applying MR based respiratory motion correction technique (MBRMCT) using integrated PET/MR scanner. Materials and Methods Data of 30 patients (aged $62.5{\pm}10.2y$) underwent $^{18}F-FDG$ liver PET/MR (Biograph mMR 3.0T, Siemens) study were collected. PET listmode data for 7 minutes was simultaneously acquired with maximum average gate (MAG), minimum time gate (MTG) and non gate (NG) T1 weighted MR images. Gated PET reconstruction was performed using mu-maps generated from MAG and MTG by setting 35% of efficiency window. Maximum SUV ($SUV_{max}$), peak SUV ($SUV_{peak}$), tumor size and full width at half maximum (FWHM) in the z-axis direction of MAG, MTG and NG PET images were evaluated. Results Compared to NG, mean $SUV_{max}$ and $SUV_{peak}$ were increased in MAG 13.15%(p<0.0001), 8.66%(p<0.0001), MTG 13.27%(p<0.0001), 8.80%(p<0.0001) and mean tumor size and FWHM were decreased in MAG 14.47%(p<0.0001), 15.49%(p=0.0004), MTG 14.89%(p<0.0001), 15.79%(p=0.0003) respectively. Mean $SUV_{max}$ and $SUV_{peak}$ of MTG were increased by 0.07%(p=0.8802), 0.13%(p=0.7766). Mean tumor size and FWHM of MTG were decreased by 0.49%(p=0.2786), 0.36%(p=0.2488) compared to MAG. There was no statistically significant difference between MAG and MTG which increase total scan time for about 7 and 2 minutes. Conclusion SUV, accuracy of tumor size and spatial resolution were improved in both of MAG and MTG by applying MBRMCT without installing additional hardware in liver PET/MR study. More accurate information can be provided with the increase of 2 minutes scan time if applying MTG of MBRMCT to various abdominal PET/MR studies affected by respiratory motion.
The purpose of this study is to compare both 1.5T and 4.7T in Praietal White matter material Phantom using the same methodology at both field strengths. Data at both field strengths are compared in terms of $T_2$ relaxation times, line widths and SNRs MR imaging and $^1H$ MR spectroscopy were performed on GE 1.5T SIGNA system and Broker Biospec 4.7T/30 MRI/MRS system. After phantom axial scan $^1H$ MRS was obtained from T2 weighted image by 3-dimensional localization technique(PRESS : Point RE solved spectroscopy Sequence) this phantom is composed of an aqueous solution 36.7 mmol/L of NAA, 25.0 mmol/L of Cr, 6.3 mmol/L of choline chloride, 30.0 mmol/L or Glu, and 22.5 mmol/L of MI(adjusted to a pH of 7,15 in a phosphate buffet). Data processed using software developed inhouse. At 1.5T, T2 relaxation times for Cho, Cr, and NAA were $0.41{\pm}0.07,\;0.26{\pm}0.04,\;0.46{\pm}0.07$ while at 4.7T they were $0.17{\pm}0.03,\;0.14{\pm}0.05,\;0.20{\pm}0.03$ respectively. At 1.5T, line widths for water, Cho, Cr and NAA were $2.9{\pm}0.7,\;1.6{\pm}0.7,\;1.7{\pm}0.8,\;2.2{\pm}0.02Hz$ while at 4.7T they were $5.2{\pm}1.1,\;4.6{\pm}1.9,\;4.01{\pm}1.8,\;4.8{\pm}1.9Hz$ respectively. It can be seen that $T_2$ relaxation times were significantly shorter at 4.7 compared to 1.5T and that the line widths were also broader. The average SNRs for NAA for subjects at short and long TEs were $23.5{\pm}11.3$ at TE=20 msec ; $15.4{\pm}7.7$ at TE=272 msec at 1.5T and $40{\pm}8.3$ and $17{\pm}3.5$ respectively at 4.7T higher field strength is superior because of improved sensitivity and chemical shift dispersion. However these improvements are partially offset by increased line widths and decrease $T_2$ relaxation times, which act to reduce both sensitivity and resolution. In our experiments with the equipment available to us, 4.7T proton spectra at short TEs exhibit moderately improved sensitivity compared to 1.5T.
Kim, Dae Jung;Kim, Joo Hee;Lim, Joon Seok;Chung, Jae-Joon;Yu, Jeong-Sik;Kim, Myeong-Jin;Kim, Ki Whang
Investigative Magnetic Resonance Imaging
/
v.18
no.4
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pp.323-331
/
2014
Purpose : To assess the usefulness of rectal filling using ultrasonographic gel in patients with lower rectal cancer. Materials and Methods: Twenty five patients with lower rectal cancer were enrolled. High resolution pelvic MR was performed twice before and after gel filling. Independently and retrospectively, two radiologists reviewed each set of MR images using five-grade scales for sphincter involvement, CRM (circumferential resection margin) involvement and depiction of the tumor. Same two radiologists retrospectively performed consensus review of each set of MR images for tumor distance from the anal verge and T&N staging. Results: Tumor depiction scores from MR with gel filling were significantly higher than those of MR without distention (p<0.001). Compared to MR without distension, MR with gel filling had no significant differences in prediction of CRM or sphincter involvement (p>0.05). Distance from the anal verge was significantly different between MR with gel filling and rigid endoscopy ($6.8{\pm}1.6cm$ vs. $5.8{\pm}1.6cm$, p=0.001). There were no significant differences between pathological staging and MR staging with or without gel filling. Conclusion: MR with gel filling improved tumor depiction. And also MR with gel filling revealed same ability for the predictions of CRM or sphincter invasion in patients with lower rectal cancer, comparing with MR without gel filling.
Purpose: To evaluate any combined rotator cuff pathologies in adhesive capsulitis patients with magnetic resonance arthrography (MRA) or ultrasonography (USG), and to see any differences in findings between MRA and USG. Materials and Methods: From June to December 2005, 80 consecutive patients with adhesive capsulitis were prospectively evaluated with either MRA or USG. Two groups were randomly assigned for examination. Evaluation were focused on any combined rotator cuff pathologies especially supraspinatus tendon. Results: Small (less than 1 cm) full-thickness SSP tendon tear were seen in 6 patients (MRA 4, USG 2, 8%) and partial-thickness SSP tendon tears in 21 (MRA 12, USG 9, 26%). In addition, supraspinatus tendinopathy were seen in 15 patients (MRA 7, USG 8, 19%). Overall, various SSP pathologies were reported in 42 patients (53%) of the study objects (MRA 23, 68% and USG 19, 41%). Subscapularis tendon partial tears were reported in 9 patients (MRA 6, USG 3, 11%). There were no statistical differences of the findings between MRA and USG in detecting rotator cuff pathologies (p>0.5). Conclusion: Nearly one half of the adhesive capsulitis patients showed various supraspinatus tendon pathology in MRA or USG. Although MRA group showed slight higher percentage of associated rotator cuff pathology than USG group (without statistical significance), this could be attributed to better resolution capacity of MRA than USG.
Purpose: We studied early rest/24 hour delay T1-201 perfusion SPECT for prediction of wall motion improvement after reperfusion in patients with acute myocardial infarction. Materials and Methods: Among 17 patients (male/female= 11/6, age: $59{\pm}13$) with acute myocardial infarction, 15 patients were treated with percutaneous transcoronary angioplasty (direct:2, delay: 11) and intravenous urokinase (2). Spontaneous resolution occurred in infarct-related arteries of 2 patients. We confirmed TIMI 3 flow of infarct-related artery after reperfusion in all patients with coronary angiography. We performed rest T1-201 perfusion SPECT less then 6 hours after reperfusion and delay T1-201 perfusion SPECT next day. T1-201 uptake was visually graded as 4 point score from normal (0) to severe defect (3). Rest T1-201 uptake ${\le}2$ or combination of rest T1-201 uptake ${\le}2$ or late reversibility were considered to be viable. Myocardial wall motion was graded as 5 point score from normal (1) to dyskinesia (5). Myocardial wall motion was considered to be improved when a segment showed an improvement ${\ge} 1$ grade in follow up echo compared with the baseline values. Results: Among 98 segments with wall motion abnormality, the severity of myocardial wall motion decrease was as follow: mild hypokinesia: 18/98 (18%), severe hypokinesia: 28/98 (29%), akinesia: 51/98 (52%), dyskinesia: 1/98 (1%). The wall motion improved in 85%. Redistribution (13%), and reverse redistribution (4%) were observed in 24 hour delay SPECT. Positive predictive value (PPV) and negative predictive value (NPV) of combination of late reversibility and rest T1-201 uptake were 99%, and 54%. PPV and NPV of rest T1-201 uptake were 100% and 52% respectively. Predictive values of combination of rest T1-201 uptake and late reversibility were not significantly different compared with predictive values of rest T1-201 uptake only. Conclusion: We conclude that early T1-201 perfusion SPECT predict myocardial wall motion improvement with excellent positive but relatively low negative predictive values in patients with acute myocardial infarction after reperfusion.
In North Korea, forests were intensively degraded by forest land reclamation for food production and firewood collection since the mid-1970s. These degraded forests have to be certainly recovered for economic support, environmental protection and disaster prevention. In order to provide detailed land cover information of forest recovery project (A/R CDM), this study was focused to develop an improved classification method for degraded forest using 2.5m SPOT-5 pan-sharpened image. The degraded forest of North Korea shows various different types of texture. This study used GLCM texture bands of segmented image with spectral bands during forest cover classification. When scale factor 40/shape factor 0.3 was used as a parameter set to generate segment image, segment image was generated on suitable segment scale that could classify types of degraded forest. Forest land cover types were classified with an optimum band combination of Band1, Band2, band3, GLCM dissimilarity (band2), GLCM homogeneity (band2) and GLCM standard deviation (band3). Segment-based classification method using spectral bands and texture bands reached an 80.4% overall accuracy, but the method using only spectral bands yielded an 70.3% overall accuracy. As using spectral and texture bands, a classification accuracy of stocked forest and unstocked forest showed an increase of 23~25%. In this research, SPOT-5 pan-sharpened high-resolution satellite image could provide a very useful information for classifying the forest cover of North Korea in which field data collection was not available for ground truth data and verification directly. And segment-based classification method using texture information improved classification accuracy of degraded forest.
Watermelon (Citrullus lanatus) is an economically important vegetable crop all over the world, which has functional compounds such as lycopene and citrulline. Gummy stem blight caused by Didymella bryoniae is one of the most devastative diseases in watermelon. Single nucleotide polymorphisms (SNPs), which are genetic variations occurring between individuals with respect to a single base, were often used to construct genetic linkage maps and develop molecular markers linked to a variety of horticultural traits and resistance to several diseases. In this study, we developed high-resolution melting (HRM) markers based on SNPs generated from NGS resequencing of two parents in watermelon. Plant materials were C. lanatus '920533' (female and susceptible parent), C. amarus 'PI 189225' (male and resistant parent), and their $F_1$ and $F_2$ progenies. A total of 13.6 Gbp ('920533') and 13.1 Gbp ('PI 189225') of genomic sequences were obtained using NGS analysis. A total of 6.09 million SNPs between '920533' and 'PI 189225' were detected, and 354,860 SNPs were identified as potential HRM primer sets. From these, a total of 330 primer sets for HRM analysis were designed. As a result, a total of 61 HRM markers that have polymorphic melting curves were developed. These HRM markers can be used for the construction of SNP-based linkage maps and for the analysis of quantitative trait loci (QTLs) related to gummy stem blight resistance.
Su Min Ha;Hak Hee Kim;Eunhee Kang;Bo Kyoung Seo;Nami Choi;Tae Hee Kim;You Jin Ku;Jong Chul Ye
Journal of the Korean Society of Radiology
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v.83
no.2
/
pp.344-359
/
2022
Purpose To develop a denoising convolutional neural network-based image processing technique and investigate its efficacy in diagnosing breast cancer using low-dose mammography imaging. Materials and Methods A total of 6 breast radiologists were included in this prospective study. All radiologists independently evaluated low-dose images for lesion detection and rated them for diagnostic quality using a qualitative scale. After application of the denoising network, the same radiologists evaluated lesion detectability and image quality. For clinical application, a consensus on lesion type and localization on preoperative mammographic examinations of breast cancer patients was reached after discussion. Thereafter, coded low-dose, reconstructed full-dose, and full-dose images were presented and assessed in a random order. Results Lesions on 40% reconstructed full-dose images were better perceived when compared with low-dose images of mastectomy specimens as a reference. In clinical application, as compared to 40% reconstructed images, higher values were given on full-dose images for resolution (p < 0.001); diagnostic quality for calcifications (p < 0.001); and for masses, asymmetry, or architectural distortion (p = 0.037). The 40% reconstructed images showed comparable values to 100% full-dose images for overall quality (p = 0.547), lesion visibility (p = 0.120), and contrast (p = 0.083), without significant differences. Conclusion Effective denoising and image reconstruction processing techniques can enable breast cancer diagnosis with substantial radiation dose reduction.
Molecular relaxation behaviors of crystalline glucose anhydrous, crystalline glucose monohydrate, and amorphous glucose with different particle sizes were observed by measuring spin-spin relaxation time constant $(T_2)$ at the temperature range of $-20\;to\;110^{\circ}C$ using temperature-controlled low field nuclear magnetic resonance spectroscopy. No change in $T_2$ values of crystalline glucose anhydrous was observed throughout the temperature range, whereas $T_2$ values of crystalline glucose monohydrate and amorphous glucose increased from around $45\;and\;65^{\circ}C$, respectively. These results indicate that molecular mobility of crystalline glucose anhydrous does not change even at temperature higher than $100^{\circ}C$ and that the stability of powdered glucose could be improved by increasing the particle size of materials.
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