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Tandem Mass Spectrometric Analysis for Disorders in Amino, Organic and Fatty Acid Metabolism : 2 Years of SCL Experience in Korea

  • Yoon, Hye-Ran;Lee, Kyung Ryul
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.3 no.1
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    • pp.86-93
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    • 2003
  • Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

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A Study on analysis of contrasts and variation in SUV with the passage of uptake time in 18F-FDOPA Brain PET/CT (18F-FDOPA Brain PET/CT 검사의 영상 대조도 분석 및 섭취 시간에 따른 SUV변화 고찰)

  • Seo, Kang rok;Lee, Jeong eun;Ko, Hyun soo;Ryu, Jae kwang;Nam, Ki pyo
    • The Korean Journal of Nuclear Medicine Technology
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    • v.23 no.1
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    • pp.69-74
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    • 2019
  • Purpose $^{18}F$-FDOPA using amino acid is particularly attractive for imaging of brain tumors because of the high uptake in tumor tissue and the low uptake in normal brain tissue. But, on the other hand, $^{18}F$-FDG is highly uptake in both tumor tissue and normal brain tissue. The purpose of study is to evaluate comparison of contrasts in $^{18}F$-FDOPA Brain PET/CT and $^{18}F$-FDG Brain PET/CT and to find out optimal scan time by analysis of variation in SUV with the passage of uptake time. Materials and Methods A region of interest of approximately $350mm^2$ at the center of the tumor and cerebellum in 12 patients ($51.4{\pm}12.8yrs$) who $^{18}F$-FDG Brain PET/CT and $^{18}F$-FDOPA Brain PET/CT were examined more than once each. The $SUV_{max}$ was measured, and the $SUV_{max}$ ratio (T/C ratio) of the tumor cerebellum was calculated. In the analysis of SUV, T/C ratio was calculated for each frame after dividing into 15 frames of 2 minutes each using List mode data in 25 patients ($49.{\pm}10.3yrs$). SPSS 21 was used to compare T/C ratio of $^{18}F$-FDOPA and T/C ratio of $^{18}F$-FDG. Results The T/C ratio of $^{18}F$-FDOPA Brain PET/CT was higher than the T/C ratio of $^{18}F$-FDG Brain, and show a significant difference according to a paired t-test(t=-5.214, p=0.000). As a result of analyzing changes in $SUV_{max}$ and T/C ratio, the peak point of $SUV_{max}$ was $5.6{\pm}2.9$ and appeared in the fourth frame (6 to 8 minutes), and the peak of T/C ratio also appeared in the fourth frame (6 to 8 minutes). Taking this into consideration and comparing the existing 10 to 30 minutes image and 6 to 26 minutes image, the $SUV_{max}$ and T/C ratio increased by 0.2 and 0.1 each, compared to the 10 to 30 minutes image for 6 to 26 minutes image. Conclusion From this study, $^{18}F$-FDOPA Brain PET/CT is effective when reading the image, because the T/C ratio of $^{18}F$-FDOPA Brain PET/CT was higher than T/C ratio of $^{18}F$-FDG Brain PET/CT. In addition, in the case of $^{18}F$-FDOPA Brain PET/CT, there was no difference between the existing 10 to 30 minutes image and 6 to 26 minutes image. Through continuous research, we can find possibility of shortening examination time in $^{18}F$-FDOPA Brain PET/CT. Also, we can help physician to accurate reading using additional scan data.

Radiographic Evaluation of Stiffness of Articular Eminence in the Temporomandibular Joint(TMJ) of Korean Using Dental cone-beam CT (한국인의 측두하악관절에서 Dental cone-beam CT를 이용한 관절융기의 경사도에 대한 방사선학적 평가)

  • Oh, Sang-Chun;Han, Ji-Seok
    • Journal of Dental Rehabilitation and Applied Science
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    • v.29 no.2
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    • pp.163-173
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    • 2013
  • When the mandible performs opening movement, the condyle-disk complex conducts sliding movement along the articular eminence. Thus, anatomic configuration of articular eminence is very important to normal movement of TMJ. The purpose of this study was to measure the posterior slope of the articular eminence and evaluate the effect of a pathologic bone change in the condylar head on the stiffness of articular eminence, and compare the differences of the articular eminence slope by gender and age using dental cone-beam CT. As using i-CAT Cone-Beam Computed Tomography, the CT images of 204 TMJs of 102 patients(43 men and 59 women, mean age: 37.7 years) who were diagnosed at Wonkwang University Sanbon Dental Hospital were evaluated. All images were converted into a TMJ analysis mode to observe the continuous sagittal section images and coronal section images of the joints. To observe and assess bone changes in the condyle, three dentists measured the stiffness of the articular eminence on the same images, and when two of the three dentists agreed on their reading, these results were adopted and recorded. The articular eminence slope, considering the condylar anatomic configuration, was measured in three regions, namely, lateral part, central part, and medial part of the condyle. In the cases of a normal condyle(NCBC) and a condyle(CBC) with bone change, the articular eminence slopes were $57.0^{\circ}$(NCBC) and $51.8^{\circ}$(CBC) at the medial part, $57.9^{\circ}$(NCBC) and $52.4^{\circ}$(CBC) at the central part, and $55.1^{\circ}$(NCBC) and $49.5^{\circ}$(CBC) at the lateral part of the condyle. And the articular eminence slope of the condyle with bone change demonstrated less steepness than that of normal condyle (p<0.05). The articular eminence slope showed mediolaterally that it was the steepest at the central, followed by at the medial, and at the lateral (p<0.05). There were no significant differences by the gender and the age (p.0.05).

Computerized Quantative Analysis of Cornary Angiogram in Patients without Coronary Pathology (Computer System을 이용한 정상 관상동맥 조영 사진의 양적분석)

  • Yun, Yang-Koo;Park, Kay-Hyun;Choi, Young-Soo;Kim, Kwhan-mien;Jun, Tae-Gook;Kim, Jhin-gook;Shim, Young-Mog;Park, Pyo-Won;Chae, Hurn
    • Journal of Chest Surgery
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    • v.31 no.5
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    • pp.488-493
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    • 1998
  • In the preoperative evaluation before coronary artery bypass surgery, review of the coronary arteriogram is the most important step. Expected "normal" lumen diameter at a given coronary anatomic location is a basis for quantative estimation of coronary disease severity that could be more useful than the traditional "percent stenosis". The distribution and number of major coronary artery branches are determinants of number of bypass grafts needed. We reviewed the coronary artery anatomy in 174 adult patients who revealed no coronary pathology in angiographic studies done from September 1994 to June 1996. Quantative analysis was done in all cases by a single person using a Computerized System (Arripro 35ⓡ). The results were follows; 1) The mean diametre of left main coronary artery was 4.45 mm(range 2.74~6.72). The pattern of branching was bifurcation in 67.24%, trifurcation in 28.74% and quadrifurcation in 4.02% of the patients. 2) The mean diametre of left anterior descending artery was 3.17 mm(range 2.10~5.85), 2.79 (range 1.55~5.59) and 2.17 mm(range 1.37~3.81) in the proximal, mid, and the distal portions, respectively. The number of diagonal branches of left anterior artery was from one to four(mode=2). 3) The mean diametre of proximal and distal left circumflex artery were 3.17mm(range 1.74~4.89) and 2.19 mm(range 1.21~4.46). The number of obtuse marginal branches of left circumflex artery is from one to six(mode 2). 4) The mean diametre of proximal and distal right coronary artery, the posterior descending artery and the largest posterolateral branch were mean 3.51 mm(range 2.07~5.67), 2.09 mm (range 1.42~3.60), 2.09 mm(range 1.02~3.60) and 2.30 mm(range 1.39~4.39). 5) The right coronary artery dominant was 163 cases(93.68%) of the total 174 cases. 6) The large significant acute marginal artery was visualized in more than half of the people. half of the people.

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The effect of labial inclination on intrusion of the upper and lower incisors by three-dimensional finite element analysis (분절호선법으로 상하악 절치부 압하 시 순측경사도가 미치는 영향에 관한 3차원 유한요소법적 연구)

  • Kim, Dong Woo;Yang, Hoon Chul;Kim, Gi Tae;Kim, Sung Sik;Son, Woo Sung
    • The korean journal of orthodontics
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    • v.33 no.4 s.99
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    • pp.259-277
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    • 2003
  • This study was designed to investigate the position of anteroposterior center of resistance for genuine intrusion and the mode of change of the minimum distal force for simultanous intrusion and retraction of the upper and lower incisors according to the increase of labial inclination. For this purpose, we used the three-piece intrusion arch appliance and three-dimensional finite element models of upper and lower incisors. 1. Positions of the center of resistance in upper incisors according to the increase of the labial inclination were as follows; 1) In normal inclination situation, the center of resistance was located in 6m behind the distal surface of the lateral incisor bracket. 2) In $10^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 9mm behind the distal surface of the lateral incisor bracket. 3) In $20^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 12m behind the distal surface of the lateral incisor bracket. 4) In $30^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 16m behind the distal surface of the lateral incisor bracket. 2. Positions of the center of resistance in lower incisors according to the increase of the labial inclination were as follows; 1) In normal inclination situation, the center of resistance was located in 10mm behind the distal surface of the lateral incisor bracket. 2) In $10^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 13m behind the distal surface of the lateral incisor bracket. 3) In $20^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 15m behind the distal surface of the lateral incisor bracket. 4) In $30^{\circ}$ increase of the labial inclination situation, the center of resistance was located in 18m behind the distal surface of the lateral incisor bracket. 3. The patterns of stress distribution were as follows; 1) There were even compressive stresses In and periodontal ligament when intrusion force was applied through determined center of resistance. 2) There were gradual increase of complexity in compressive stress distribution pattern with Increase of the labial inclination when intrusion and retraction force were applied simultaneously. 4. With increase of the labial inclination of the upper and lower incisors, the position of the center of resistance moved posteriorly. And the distal force for pure intrusion was increased until $20^{\circ}$increase of the labial inclination.

Womans experience of Risk Situation on the High-Risk Pregnancy (여성의 고위험 임신에 대한 경험)

  • Kim, Kyung-Won;Lee, Kyung-Hye
    • Women's Health Nursing
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    • v.4 no.1
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    • pp.161-178
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    • 1998
  • In spite of the great progress of the theory and skill of the Nursing Care & Medical area in relation to pregnancy, nurses in clinics face up to many challenges in maternity nursing care areas. The reason is that the mobility and mortality of mothers was sharply decreased and the unknown high-risk diseases of pregnancy woman in the past is made public. That's why it is difficult to meet the pregnancy woman in natural process from pregnancy to delivery in recently. Admission rooms are filled with high-risk pregnancy women. As a matter of fact, we have done nursing care into the surface symptoms and diseases of high-risk pregnancy women so far. We have been indifferent to a long period hospitalization, separation from family, and conflict of repeated examination. Therefore, it is widely spread to understand the emotional conflict experienced by high-risk pregnancy women and to need for nursing intervention to bring up about emotional support and the ability of perception in psychological crisis. Although the pregnancy woman judged in high-risk should carry out normal task of pregnancy, she have to be confronted with secondary risk situation. The health of self & fetus threatened by the risk situation could be decreased through care plan, but psychological stress increases. Therefore, the pregnancy brings into non-control state. It is important to ask that what the hospitalized pregnancy women in high-risk think of themselves status. Because misunderstanding or serious anxiety of themselves status put into mother and fetus in danger. And adaptation mode makes all the difference. I would like to consider how nurses could deal with this high-risk circumstances in the position of pregnancy woman on the basis of the above fact. This study uses phenomenological method to suggest the basis material for nurses to do nursing intervention in view of pregnancy woman. Because this method understands the nature of true life of pregnancy woman throughly. The phenomenological method is the sources to describe or explain affluently the process generated in confirmation areas and environment and is the application for readers to understand and recognize clinic reality and then apply this method to reasoning study place or other places. Specifically, the phenomenon study method, one of the phenomenological method, is applied. The use of that method is to describe and generalize the experience in environment exactly. The study of this study is as follows : Among 187 descriptive stamens from 8 study participants are classified into 42 theme cluster at the stage of the first analysis. Those theme is categorized into 8 sub-subjects such as anxiety of uncertainty, foreknowledge about risk circumstance, will power about overcome, unsettled feeling about hospital, relief, optimistic thought, family support, and indifferences. At the last stage of analysis, those things are categorized into 3 subjects. When high-risk pregnancy woman foretell the situation, they feel unsettlement about uncertainty and untrust feeling about hospital. But they are ease with family support and hospital support. On the other hand, they express indifferent 3-way structure response to the situation having will of overcome and exceeding optimistic thought. In those statements, the experience by pregnancy woman shows 3 respect subjects. 1. They are anxious of this situation and are in desperation and don't recognize their role to be carried out 2. They think of this situation as normal process of pregnancy and are not concerned that this can give themselves and fetus fatal damage. 3. The pregnancy women will never confront this situation. This study shows the pregnancy woman has anxiety and optimistic relief about the situation, and ignores and optimistic relief about the situation, and ignores many things. Therefore, nurses in clinic should give pregnancy woman knowledge and information about the high-risk and help them to deal with the situation spontaneously. High-risk pregnancy woman should have the care plan in respect of the right perception. And the nurse know that their support help out pregnancy woman overcome the crisis in this respect of the special nursing intervention.

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Network Anomaly Detection Technologies Using Unsupervised Learning AutoEncoders (비지도학습 오토 엔코더를 활용한 네트워크 이상 검출 기술)

  • Kang, Koohong
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.30 no.4
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    • pp.617-629
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    • 2020
  • In order to overcome the limitations of the rule-based intrusion detection system due to changes in Internet computing environments, the emergence of new services, and creativity of attackers, network anomaly detection (NAD) using machine learning and deep learning technologies has received much attention. Most of these existing machine learning and deep learning technologies for NAD use supervised learning methods to learn a set of training data set labeled 'normal' and 'attack'. This paper presents the feasibility of the unsupervised learning AutoEncoder(AE) to NAD from data sets collecting of secured network traffic without labeled responses. To verify the performance of the proposed AE mode, we present the experimental results in terms of accuracy, precision, recall, f1-score, and ROC AUC value on the NSL-KDD training and test data sets. In particular, we model a reference AE through the deep analysis of diverse AEs varying hyper-parameters such as the number of layers as well as considering the regularization and denoising effects. The reference model shows the f1-scores 90.4% and 89% of binary classification on the KDDTest+ and KDDTest-21 test data sets based on the threshold of the 82-th percentile of the AE reconstruction error of the training data set.

Functional MRI of Language: Difference of its Activated Areas and Lateralization according to the Input Modality (언어의 기능적 자기공명영상: 자극방법에 따른 활성화와 편재화의 차이)

  • Ryoo, Jae-Wook;Cho, Jae-Min;Choi, Ho-Chul;Park, Mi-Jung;Choi, Hye-Young;Kim, Ji-Eun;Han, Heon;Kim, Sam-Soo;Jeon, Yong-Hwan;Khang, Hyun-Soo
    • Investigative Magnetic Resonance Imaging
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    • v.15 no.2
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    • pp.130-138
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    • 2011
  • Purpose : To compare fMRIs of visual and auditory word generation tasks, and to evaluate the difference of its activated areas and lateralization according to the mode of stimuli. Materials and Methods : Eight male normal volunteers were included and all were right handed. Functional maps were obtained during auditory and visual word generation tasks in all. Normalized group analysis were performed in each task and the threshold for significance was set at p<0.05. Activated areas in each task were compared visually and statistically. Results : In both tasks, left dominant activations were demonstrated and were more lateralized in visual task. Both frontal lobes (Broca's area, premotor area, and SMA) and left posterior middle temporal gyrus were activated in both tasks. Extensive bilateral temporal activations were noted in auditory task. Both occipital and parietal activations were demonstrated in visual task. Conclusion : Modality independent areas could be interpreted as a core area of language function. Modality specific areas may be associated with processing of stimuli. Visual task induced more lateralized activation and could be a more useful in language study than auditory task.

Simultaneous Determination of Urinary Phytoestrogens and Estrogens by Gas Chromatography/Mass spectrometry (GC/MS에 의한 뇨 중 Phytoestrogen과 Estrogen의 동시 분석)

  • Yang, Yoon Jung;Lee, Seon Hwa;Chung, Bong Chul
    • Analytical Science and Technology
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    • v.11 no.5
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    • pp.374-385
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    • 1998
  • Phytoestrogens are biologically active compounds derived from plants foods. It had been suggested that phytoestrogens, by inhibiting aromatase in peripheral and/or cancer cells and lowering estrogen levels, may play a protective role as antipromotional compounds during growth of estrogen-dependent cancers. Therefore, simultaneous analysis of estrogens and phytoestrogens is necessary to elucidate the possible involvement of phytoestrogens in estrogen metabolism. In this view, we developed a simple and reproducible procedure to quantitatively determine estrogen and phytoestrogen metabolites. The proposed method consisted of solid phase extraction using preconditioned Serdolit AD-2 resin, enzyme hydrolysis with ${\beta}$-glucuronidase/arylsulfatase from Helix pomatia, liquid-liquid extraction and TMS-ether derivatization. And the final determination was carried out by gas chromatography/mass spectrometry (GC/MS) in selected ion monitoring mode (SIM). The precision and accuracy of this method was evaluated through within-a-day and day-to-day test. Recovery range and detection limit were 71.96~105.66%, 2~4 ng/mL, respectively. Using this method, 17 estrogen and 5 phytoestrogen compositions in urine of normal subjects were analyzed. It was found that amounts and relative distribution of urinary phytoestrigens and estrogens showed different pattern in male and female subjects.

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Reliability Studies on Cu/SnAg Double-Bump Flip Chip Assemblies for Fine Pitch Applications (미세피치용 Cu/SnAg 더블 범프 플립칩 어셈블리의 신뢰성에 관한 연구)

  • Son, Ho-Young;Kim, Il-Ho;Lee, Soon-Bok;Jung, Gi-Jo;Park, Byung-Jin;Paik, Kyung-Wook
    • Journal of the Microelectronics and Packaging Society
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    • v.15 no.2
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    • pp.37-45
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    • 2008
  • In this study, reliabilities of Cu (60 um)/SnAg (20 um) double-bump flip chip assemblies were investigated for the flip chip interconnections on organic substrates with 100 um pitch. After multiple reflows at $250^{\circ}C\;and\;280^{\circ}C$, bump contact resistances were almost same regardless of number of reflows and reflow temperature. In the high temperature storage test, there was no bump contact resistance change at $125^{\circ}C$ up to 2000 hours. However, bump contact resistances slightly increased at $150^{\circ}C$ due to Kirkendall voids formation. In the electromigration test, Cu/SnAg double-bump flip chip assemblies showed no electromigration until about 600 hours due to reduced local current density. Finally, in the thermal cycling test, thermal cycling failure mainly occurred at Si chip/Cu column interface which was found out the highest stress concentration site in the finite element analysis. As a result, Al pad was displaced out under thermal cycling. This failure mode was caused by normal compressive strain acting Cu column bumps along perpendicular direction of a Si chip.

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