• Title/Summary/Keyword: molecular methods

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Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome (Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰)

  • Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.45 no.9
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    • pp.1126-1133
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    • 2002
  • Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

Diagnostic Accuracy of PET and MR for Detecting Liver Metastasis from Colorectal Cancer (대장-직장암의 간전이에서 FDG PET과 MR의 진단 성능)

  • Park, Eun-Kyung;Kang, Won-Jun;Eo, Jae-Seon;Lee, Dong-Soo;Chung, June-Key;Lee, Myung-Chul
    • Nuclear Medicine and Molecular Imaging
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    • v.40 no.5
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    • pp.249-256
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    • 2006
  • Purpose: Although computed tomography (CT) is widely used for diagnosing liver metastasis from colorectal cancer, diagnostic accuracy of CT is not satisfactory. Magnetic resonance (MR) imaging and F-18 FDG PET has been reported to be superior to CT. However, studies on direct comparison of PET and MR are scarce. We compared the diagnostic accuracy of FDG PET and MR in detecting liver metastasis from colorectal cancer. Materials and Methods: Among 363 colorectal cancer patients who underwent F-18 FDG PET (ECAT, Siemens-CTI, Knoxville; Gemini, Philips, Milpitas, U.S.), 26 patients (M:F=17:9, age=$62{\pm}11$) underwent MR to evaluate suspicious metastatic liver lesions. Finally, 35 liver lesions detected by CT from 26 patients were enrolled for analysis. PET and MR results were compared with pathologic reports, clinical findings or follow-up results. Results: Of the 35 lesions, 18 lesions (51.4%) were diagnosed as liver metastases, while remaining 17 (48.6%) as benign. The sensitivity and the specificity of PET were 94.4% and 94.1%, respectively, compared to 100% and 82.4% for MR. MR and PET was concordant in 30 lesions (85.7%: 17 metastatic (94.4%) and 13 benign (76.5%) lesions. ROC curve analysis revealed maximal SUV of 3.1 as the optimum standard in differentiating metastatic from benign liver lesions (AUC=0.897, p<0.001, sensitivity 83.3%, specificity 94.1%). For small lesions less than 1 cm ln diameter (n=20), diagnostic accuracy of PET was comparable to that of MR. Conclusion: F-18 FDG PET showed good diagnostic performance in detecting liver metastasis from colorectal cancer, which was comparable to MR.

Camparison between the 1 Day and the 2 Day Protocols of Lymphoscintigraphy and Sentinel Node Biopsy using Subareolar Injection in Breast Cancer Patients: A Retrospective Study (유륜하 주사에 의한 유방암 환자의 전초림프절 스캔과 전초림프절 생검에 있어서 당일검사와 전날검사의 비교: 후향적 연구)

  • Seok, Ju-Won;Jun, Sung-Min;Nam, Hyun-Yeol;Kim, In-Ju
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.1
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    • pp.55-59
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    • 2009
  • Purpose: Lymphoscintigraphy and sentinel node biopsy are used in detection of axillary lymph node metastasis in breast cancer patients, but standardized technique is not established. We compared the results of the injection the morning of surgery (1 day protocol) with the subareolar injection the day before surgery (2 day protocol) with the subareolar injection in patients with breast cancer having lymphoscintigraphy and sentinel node biopsy. Materials and Methods: This study included 349 patients who underwent the breast cancer operation during 2001-2004. One hundred seventy one patients (1 day protocol, 1 hour) was injected 0.8ml of Tc-99m Tin-Colloid (37 MBq) by subareolar injection on the morning of surgery. One hundred seventy eight patients (2 day protocol, 16 hour) was injected 0.8 ml of T c-99m Tin-Colloid (185 MBq) on the afternoon before surgery. Lymphoscintigraphy was performed in sitting position and sentinel node localization was performed by hand-held gamma probe during operation. Result: In the 1 day protocol, 153 cases (89.5%) of the sentinel node were localized by lymphoscintigraphy and 150 cases (87.7%) were localized by gamma probe. In the 2 day protocol, 159 cases (89.3%) were localized by lymphoscintigraphy and 154 cases (86.5%) were localized by gamma probe. There was no significant difference in localization of sentinel node between the 1 day and the 2 day protocol by lymphoscintigraphy and gamma probe (p>0.05, p>0.05). Conclusion: There was no difference the result of localization of sentinel node with subareolar injection between the 1 day and the 2 day protocol in breast cancer patients. Because the 2 day protocol allows the enough time of performing lymphoscintigraphy, it is more useful in localization of sentinel node in breast cancer patients.

Current Status and Problems of PET/CT Data on CD for Inter-hospital Transfer (병원간 전송용 PET/CT 영상 CD자료의 현황 및 문제점)

  • Hyun, Seung-Hyup;Choi, Joon-Young;Lee, Su-Jin;Cho, Young-Seok;Lee, Ji-Young;Cheon, Mi-Ju;Cho, Suk-Kyong;Lee, Kyung-Han;Kim, Byung-Tae
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.2
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    • pp.137-142
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    • 2009
  • Purpose: This study was performed to find the current problems of positron emission tomography/computed tomography(PET/CT) data on CD for inter-hospital transfer. Materials and Methods: The subjects were 746 consecutive $^{18}F$-fluorodeoxyglucose PET/CT data CDs from 56 hospitals referred to our department for image interpretation. The formats and contents of PET/CT data CDs were reviewed and the email questionnaire survey about this was performed. Results: PET/CT data CDs from 21 of 56 hospitals(37.5%) included all transaxial CT and PET images with DICOM standard format which were required for authentic interpretation. PET/CT data from the others included only secondary capture images or fusion PET/CT images. According to this survey, the main reason of limited PET/CT data on CD for inter-hospital transfer was that the data volume of PET/CT was too large to upload to the Picture Archiving and Communication System. Conclusion: The majority of hospitals provided limited PET/CT data on CD for inter-hospital transfer, which could be inadequate for accurate interpretation and clinical decision making. It is necessary to standardize the format of PET/CT data on CD for inter-hospital transfer including all transaxial CT and PET images with DICOM standard format.

Image-Based Assessment and Clinical Significance of Absorbed Radiation Dose to Tumor in Repeated High-Dose $^{131}I$ Anti-CD20 Monoclonal Antibody (Rituximab) Radioimmunotherapy for Non-Hodgkin's Lymphoma (반복적인 $^{131}I$ rituximab 방사면역치료를 시행 받은 비호지킨 림프종 환자 군에서 종양 부위의 영상기반 방사선 흡수선량 평가와 임상적 의의)

  • Byun, Byung-Hyun;Kim, Kyeong-Min;Woo, Sang-Keun;Choi, Tae-Hyun;Kang, Hye-Jin;Oh, Dong-Hyun;Kim, Byeong-Il;Cheon, Gi-Jeong;Choi, Chang-Woon;Lim, Sang-Moo
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.1
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    • pp.60-71
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    • 2009
  • Purpose: We assessed the absorbed dose to the tumor ($Dose_{tumor}$) by using pretreatment FDG-PET and whole-body (WB) planar images in repeated radioimmunotherapy (RIT) with $^{131}I$ rituximab for NHL. Materials and Methods: Patients with NHL (n=4) were administered a therapeutic dose of $^{131}I$ rituximab. Serial WB planar images alter RIT were acquired and overlaid to the coronal maximum intensity projection (MIP) PET image before RIT. On registered MIP PET and WB planar images, 2D-ROls were drawn on the region of tumor (n=7) and left medial thigh as background, and $Dose_{tumor}$ was calculated. The correlation between $Dose_{tumor}$ and the CT-based tumor volume change alter RIT was analyzed. The differences of $Dose_{tumor}$ and the tumor volume change according to the number of RIT were also assessed. Results: The values of absorbed dose were $397.7{\pm}646.2cGy$ ($53.0{\sim}2853.0cGy$). The values of CT-based tumor volume were $11.3{\pm}9.1\;cc$ ($2.9{\sim}34.2cc$), and the % changes of tumor volume before and alter RIT were $-29.8{\pm}44.3%$ ($-100.0%{\sim}+42.5%$), respectively. $Dose_{tumor}$ and the tumor volume change did not show the linear relationship (p>0.05). $Dose_{tumor}$ and the tumor volume change did not correlate with the number of repeated administration (p>0.05). Conclusion: We could determine the position and contour of viable tumor by MIP PET image. And, registration of PET and gamma camera images was possible to estimate the quantitative values of absorbed dose to tumor.

Prediction of Splint Therapy Efficacy Using Bone Scan in Patients with Unilateral Temporomandibular Disorder (편측성 측두하악관절장애 환자에서 골스캔을 이용한 교합안정장치 치료효과 예측)

  • Lee, Sang-Mi;Lee, Won-Woo;Yun, Pil-Young;Kim, Young-Kyun;Kim, Sang-Eun
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.2
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    • pp.143-149
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    • 2009
  • Purpose: It is not known whether bone scan is useful for the prediction of the prognosis of patients with temporomandibular disorders(TMD). The aim of the present study was to identify useful prognostic markers on bone scan for the pre-therapeutic assessment of patients with unilateral TMD. Materials and Methods: Between January 2005 and July 2007, 55 patients(M:F=9:46; mean age, $34.7{\pm}14.1$ y) with unilateral TMD that underwent a pre-therapeutic bone scan were enrolled. Uptake of Tc-99m HDP in each temporomandibular joint(TMI) was quantitated using a $13{\times}13$ pixel-square region-of-interest over TMJ and parietal skull area as background. TMJ uptake ratios and asymmetric indices were calculated. TMD patients were classified as improved or not improved and the bone scan findings associated with each group were investigated. Results: Forty-six patients were improved, whereas 9 patients were not improved. There was no significant difference between the two groups of patients regarding the TMJ uptake ratio of the involved joint, the TMJ uptake ratio of the non-involved joint, and the asymmetric index(p>0.05). However, in a subgroup analysis, the patients with an increased uptake of Tc-99m HDP at the disease-involved TMJ, by visual assessment, could be easily identified by the asymmetric index; the patients that improved had a higher asymmetric index than the patients that did not improve($1.32{\pm}0.35$ vs. $1.08{\pm}0.04$, p=0.023), Conclusion: The Tc-99m HDP bone scan may help predict the prognosis of patients with unilateral TMD after splint therapy when the TMD-involved joint reveals increased uptake by visual assessment.

Bone Mineral Density Measurement of Rats Using Dual-energy X-ray Absorptiometry: Precision of In Vivo Measurements for Various Skeletal Sites with or without Repositioning (쥐에서 이중에너지 방사선 흡수법을 이용한 골밀도의 측정: 다양한 골부위에서 재위치 여부에 따른 생체내 측정의 정밀도)

  • Oh, Dong-Hyun;Jung, Jae-Ho;Woo, Sang-Keun;Cheon, Gi-Jeong;Kim, Byung-Il;Choi, Chang-Woon;Lim, Sang-Moo
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.1
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    • pp.72-78
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    • 2009
  • Purpose: Bone mineral density (BMD) measurements need to be precise enough to be capable of detecting small changes in bone mass of rats. Using a regular dual-energy X-ray absorptiometry (DXA), we measured many BMD of various skeletal sites in rats to examine precision of DXA in relation to the repositioning on the bones of rats. Materials and Methods: Using DXA and small animal software, scans were performed 4 times in all 12 male rats without repositioning (Group 1a). Another four scans for 6 of 12 rats were done with repositioning between scans (Group 2). Customized regions of interest (ROIs), encapsulate the right hind limb, L1-4, skull and pelvic bones were drawn at each measurement. The precision of the measurements was evaluated by measuring the coefficient of variation (CV) of four measurements of BMD at each skeletal site of all rats with or without repositioning. Significance of differences between group 1b (six rats out of group 1a, which were come under group 2) and group2 were evaluated with Wilcoxon Signed Rank Sum Test. Results: CVs obtained at different skeletal sites of all measurements in Group 1b and 2. It was $3.51{\pm}1.20$, $ 2.62{\pm}1.20$ for the hindlimb (p=0.173), $3.83{\pm}2.02$, $4.59{\pm}2.02$ for L1-4 (p=0.600), $3.73{\pm}1.87$, $1.53{\pm}0.89$ for skull (p=0.046), and $2.92{\pm}0.60$, $1.45{\pm}0.60$ for pelvic bones (p=0.075). Conclusion: Our study demonstrates that the DXA technique has the precision necessary when used to assess BMD for various skeletal sites in rats regardless of repositioning.

Differentiation of Parkinson's Disease and Essential Tremor on I-123 IPT(I-123-N-(3-iodopropen-2-yl)-$2{\beta}$-carbomethoxy- $3{\beta}$-(4-cholorophenyl) tropane) Brain SPECT (파킨슨병과 본태성 진전의 감별진단에서 I-123 IPT(I-123-N-(3-iodopropen-2-yl)-$2{\beta}$-carbomethoxy-$3{\beta}$-(4-cholorophenyl) tropane) 뇌 단일광전자방출 전산화단층촬영의 역할)

  • Pai, Moon-Sun;Choi, Tae-Hyun;Ahn, Sung-Min;Choi, Jai-Yong;Ryu, Won-Gee;Lee, Jae-Hoon;Ryu, Young-Hoon
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.2
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    • pp.100-106
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    • 2009
  • Purpose: The study was to assess I-123-N-(3-iodopropen-2-yl)-2[beta]-carbomethoxy-3[beta]-(4-cholorophenyl) tropane(IPT) SPECT in differential diagnosis among early stage of Parkinson's disease(PD) and essential tremor(ET) and normal control(NL) groups quantitatively. Materials and Methods: I-123 IPT brain SPECT of 50 NL, 20 early PD, 30 advanced PD, and 20 ET were performed at 20 minutes and 2 hours. Specific/nonspecific binding of striatum was calculated by using right and left striatal specific to occipital non-specific uptake ratio(striatum-OCC/OCC). Results: Mean value of specific/nonspecific binding ratio was significantly different between advanced PD group and NL group. However, significant overlap of striatal specific/nonspecific binding ratio was observed between PD group and ET group. Bilateral striatal specific/nonspecific binding ratios were decreased in advanced PD. Lateralized differences in the striatal uptake of I-123 IPT correlated with asymmetry in clinical findings in PD group. Conclusion: I-123 IPT SPECT may be a useful method for the diagnosis of PD and objective evaluation of progress of clinical stages. Care should be made in the differential diagnosis of early stage of PD and other motor disturbances mimicking PD such as ET in view of significant overlap in striatal I-123 specific/nonspecific binding ratio.

FDG Uptake and a Contrast Enhancement According to Histopathologic Types in Lung Cancers (폐암의 조직학적 분류에 따른 종양의 FDG 섭취와 CT 조영증강정도에 관한 연구)

  • Han, You-Mie;Choe, Jae-Gol;Kim, Young-Chul;Park, Eun-Kyung
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.1
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    • pp.19-25
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    • 2009
  • Purpose: The aims of this study were to analyze correlation between the maximum standardized uptake value (SUVmax) of 2-[F-18]-fluoro-2-deoxy-d-glucose (FDG) on positron emission computed tomography (PET-CT) scan and the degree of contrast enhancement on computed tomography (CT) scan in lung cancers, and to recognize the difference in SUVmax and CT enhancement between groups of different histopathologic subtypes. Materials and Methods: Our study included 53 patients of pathologically confirmed primary lung cancer, who were performed PET-CT and post-contrast chest CT. We calculated initial and delayed SUVmax (SUV1, SUV2), difference between SUV1 and SUV2 (SUVd), retention index (RI), and the degrees of CT contrast enhancement of lung cancers. We analyzed these variables for subtypes of lung cancers. Results: The values (mean$\pm$ standard deviation) were $8.3{\pm}4.4$ for SUV1, $10.7{\pm}5.7$ for SUV2, $2.4{\pm}1.6$ for SUVd, $30{\pm}14$ for RI and $47.1{\pm}14.8$ HU (Hounsfield Unit) for degree of CT contrast enhancement. The difference of SUV1 and degree of CT enhancement between subtypes was not meaningful. SUV1 showed positive correlations with SUVd (r=0.74, p<0,01) and tumor size (r=0.58, p<0.01), but no significant correlation with degree of CT enhancement (r=0.06, p=0.69). In 10 cases, there was discrepancy in the same mass between the area of highest FDG-uptake and the area of highest contrast enhancement. Conclusion: We suggest that FDG uptake in lung cancer does not have a positive linear correlation with degree of CT enhancement. And there is no significant difference in FDG uptake and degree of CT enhancement between different subtypes of lung cancers.

Alterations of Regional Cerebral Blood Flow in Major Depressive Disorder (주 우울증 환자의 국소 뇌혈류 변화 연구)

  • Lee, Won-Hyoung;Chung, Yong-An;Seo, Ye-Young;Yoo, Ik-Dong;Na, Sae-Jung;Jung, Hyun-Suk;Kim, Ki-Jun
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.2
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    • pp.107-111
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    • 2009
  • Purpose: The authors analyzed how the regional cerebral blood flow(rCBF) findings of patients with major depression differ from the normal control, and our results were compared to previous reports. Materials and Methods: Twelve patients fulfilling DSM-IV criteria for major depression who were off all psychotropic medications for > 4weeks(male: 7, female: 5, age range: $19{\sim}52$ years, average age: $29.3{\pm}9.9$ years) and 14 normal volunteers(male: 8, female: 6, age range: $19{\sim}53$ years, average age: $31.4{\pm}9.2$ years) were recruited. Images of brain perfusion SPECT were obtained using Tc-99m ECD and patterns of the rCBF were compared between patients with major depression and the healthy control subjects. Results: The patients with major depression showed increase of the r-CBF in right lingual gyrus, right fusiform gyrus, left lingual gyrus, left precuneus, and left superior temporal gyrus, and showed decrease of r-CBF in right pons, left medial frontal gyrus, cingulate gyrus of left limbic lobe, cingulate gyrus of right frontal lobe, and cingulate gyrus of right limbic lobe compared to the normal control. Conclusion: The Tc-99m ECD brain perfusion SPECT findings in our study did not differ from the previously reported regional cerebral blood flow pattern of patients with major depression. Especially, decreased rCBF pattern typical to major depression patients in the right pons, left medial frontal gyrus, and cingulate regions was clearly demonstrated.