• Title/Summary/Keyword: Structural Anomalies

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Update on infantile hemangioma

  • Jung, Hye Lim
    • Clinical and Experimental Pediatrics
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    • v.64 no.11
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    • pp.559-572
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    • 2021
  • The International Society for the Study of Vascular Anomalies classifies vascular anomalies into vascular tumors and vascular malformations. Vascular tumors are neoplasms of endothelial cells, among which infantile hemangiomas (IHs) are the most common, occurring in 5%-10% of infants. Glucose transporter-1 protein expression in IHs differs from that of other vascular tumors or vascular malformations. IHs are not present at birth but are usually diagnosed at 1 week to 1 month of age, rapidly proliferate between 1 and 3 months of age, mostly complete proliferation by 5 months of age, and then slowly involute to the adipose or fibrous tissue. Approximately 10% of IH cases require early treatment. The 2019 American Academy of Pediatrics clinical practice guideline for the management of IHs recommends that primary care clinicians frequently monitor infants with IHs, educate the parents about the clinical course, and refer infants with high-risk IH to IH specialists ideally at 1 month of age. High-risk IHs include those with life-threatening complications, functional impairment, ulceration, associated structural anomalies, or disfigurement. In Korea, IHs are usually treated by pediatric hematology-oncologists with the cooperation of pediatric cardiologists, radiologists, dermatologists, and plastic surgeons. Oral propranolol, a nonselective beta-adrenergic antagonist, is the first-line treatment for IHs at a dosage of 2-3 mg/kg/day divided into 2 daily doses maintained for at least 6 months and often continuing until 12 months of age. Topical timolol maleate solution, a topical nonselective beta-blocker, may be used for small superficial type IHs at a dosage of 1-2 drops of 0.5% gel-forming ophthalmic solution applied twice daily. Pulse-dye laser therapy or surgery is useful for the treatment of residual skin changes after IH involution.

Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome (터너 증후군에서 신기형의 발생에 미치는 레닌-안지오텐신계 유전자 다형성의 영향)

  • Park Ji-Kyoung;Chung Young-Hee;Lee Jeong-Nyeo;Chung Woo-Yeong
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.52-59
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    • 2003
  • Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

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Structural Implications of Gravity Anomalies around Dok Island and its Surrounding Seamounts in the East Sea (독도 및 그 주변 해산 중력 이상의 지구조적 해석)

  • 김원균;김창환;박찬홍;한현철;권문상;민경덕;김백수;최영섭
    • Economic and Environmental Geology
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    • v.33 no.6
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    • pp.537-545
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    • 2000
  • Shipborne gravity data are analyzed to investigate crustal structure under Dok Island and its surrounding seamounts located in border of Ulleung Basin and Oki Bank in the East Sea. Relatively low free-air gravity anomaly compared with the volume of seamounts may be explainable by isostatic compensation. From 1 st to 3rd Dokdo Seamounts, the decrease of free-air and Bouguer gravity anomalies implies the different degree of isostatic compensation, crustal thickness or/and density contrast. 3-D gravity modelling shows that seamounts have the mirror roots for regional Airy isostatic compensation, and from Ulleung Basin to Oki Bank, Moho discontinuity deepens and the density of crust is decreases. The results infer that study area is transitional zone from thin oceanic to thick continental crust. The depth of Moho discontinuity is about 15∼16 km, which may be interpreted as an uplifting of Mantle to shallow depth comparing with other borders of the Ulleung Basin.

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The study of the $BiO_{6}$ octahedra structure in superconducting $Ba_{0.6}K_{0.4}BiO_3$ single crystal by extended x-ray absorption spectroscopy (EXAFS에 의한 $Ba_{0.6}K_{0.4}BiO_3$ 단결정의 초전도 상태에서 $BiO_{6}$ octahedra 구조의 연구)

  • 김봉준;김영철;김현탁;강광용;이재민
    • Progress in Superconductivity
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    • v.4 no.2
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    • pp.148-152
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    • 2003
  • We have observed the temperature dependences of Bi $L_{III}$ edge spectra by extended X-ray absorption spectroscopy for a high quality single crystal and a powder of the $Ba_{0.6}K_{0.4}BiO_3$ superconductor. $Ba_{0.6}K_{0.4}BiO_3$ has the cubic structure and metallic states. The deformation of the $BiO_{6}$ octahedra, which is due to the anomalies of the Bi-O and Bi-Ba bond length, was showed by the double-shell fit. It was clearly found that these anomalies are owing to the difference in the strength of Bi-O bonds. The temperature dependences of both bond lengths and the Debye-Walter factor ${\sigma}^2$ of the Bi-O and Bi-(Ba,K) bond are discussed to illustrate local structural features of the $Ba_{0.6}K_{0.4}BiO_3$

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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

  • Seong, Eui Sun;Youn, Hye Jin;Park, Min Kyung;Boo, Hye Yeon;Lee, Bom Yi;Ryu, Hyun Mee;Han, You Jung
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.8-12
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    • 2018
  • Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

  • Boo, Hyeyeon;Kim, So Yun;Seoung, Eui Sun;Kim, Min Hyung;Kim, Moon Young;Ryu, Hyun Mee;Han, You Jung;Chung, Jin Hoon
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.79-86
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    • 2018
  • Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

Clinical Manifestation and Associated Cardiac Anomalies of Dextrocardia (우심증에 동반된 심기형과 임상양상)

  • Kim, Sung Hoon;Hong, Seung A;Cho, Yoon Jung;Lee, Sang Lak;Kwon, Tae Chan
    • Clinical and Experimental Pediatrics
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    • v.45 no.5
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    • pp.622-628
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    • 2002
  • Purpose : The purpose of this study is to ascertain the clinical manifestations and associated cardiac anomalies of dextrocardia. Methods : Twenty-four pediatric patients, who were admitted to, or visited, Dongsan Medical Center Keimyung University and were diagnosed with dextrocardia between January 1996 and July 2001, were enrolled in this study. All patients received echocardiogram and abdominal ultrasonogram to identify structural cardiac anomalies and visceral position. Results : Among 24 patients, 7 cases were situs solitus(29.2%), 10 cases(41.6%) were situs inversus and 7 cases(29.2%) were situs ambiguous. Most were diagnosed within a week of life(87.5%). They were most commonly cyanotic(45.8%), but eleven cases(45.8%) had no specific symptoms or signs. Nineteen cases(79.2%) had accompanied cardiac anomalies, and pulmonary stenosis or atresia were the most common among them. All the cases of situs solitus and ambiguous had associated cardiac anomalies, but half of the situs inversus had that. Eleven cases were dead by cardiac or extracardiac anomalies during follow up and the mortality rate was higher in situs solitus or ambiguous group than situs inversus group. Conclusion : Dextrocardia accompanies different cardiac and extracardiac anomalies. It's very important to diagnose dextrocardia and associated cardiac or extracardiac anomalies in the early stages of life to improve prognosis.

Cointegration based modeling and anomaly detection approaches using monitoring data of a suspension bridge

  • Ziyuan Fan;Qiao Huang;Yuan Ren;Qiaowei Ye;Weijie Chang;Yichao Wang
    • Smart Structures and Systems
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    • v.31 no.2
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    • pp.183-197
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    • 2023
  • For long-span bridges with a structural health monitoring (SHM) system, environmental temperature-driven responses are proved to be a main component in measurements. However, anomalous structural behavior may be hidden incomplicated recorded data. In order to receive reliable assessment of structural performance, it is important to study therelationship between temperature and monitoring data. This paper presents an application of the cointegration based methodology to detect anomalies that may be masked by temperature effects and then forecast the temperature-induced deflection (TID) of long-span suspension bridges. Firstly, temperature effects on girder deflection are analyzed with fieldmeasured data of a suspension bridge. Subsequently, the cointegration testing procedure is conducted. A threshold-based anomaly detection framework that eliminates the influence of environmental temperature is also proposed. The cointegrated residual series is extracted as the index to monitor anomaly events in bridges. Then, wavelet separation method is used to obtain TIDs from recorded data. Combining cointegration theory with autoregressive moving average (ARMA) model, TIDs for longspan bridges are modeled and forecasted. Finally, in-situ measurements of Xihoumen Bridge are adopted as an example to demonstrate the effectiveness of the cointegration based approach. In conclusion, the proposed method is practical for actual structures which ensures the efficient management and maintenance based on monitoring data.

A hybrid deep neural network compression approach enabling edge intelligence for data anomaly detection in smart structural health monitoring systems

  • Tarutal Ghosh Mondal;Jau-Yu Chou;Yuguang Fu;Jianxiao Mao
    • Smart Structures and Systems
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    • v.32 no.3
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    • pp.179-193
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    • 2023
  • This study explores an alternative to the existing centralized process for data anomaly detection in modern Internet of Things (IoT)-based structural health monitoring (SHM) systems. An edge intelligence framework is proposed for the early detection and classification of various data anomalies facilitating quality enhancement of acquired data before transmitting to a central system. State-of-the-art deep neural network pruning techniques are investigated and compared aiming to significantly reduce the network size so that it can run efficiently on resource-constrained edge devices such as wireless smart sensors. Further, depthwise separable convolution (DSC) is invoked, the integration of which with advanced structural pruning methods exhibited superior compression capability. Last but not least, quantization-aware training (QAT) is adopted for faster processing and lower memory and power consumption. The proposed edge intelligence framework will eventually lead to reduced network overload and latency. This will enable intelligent self-adaptation strategies to be employed to timely deal with a faulty sensor, minimizing the wasteful use of power, memory, and other resources in wireless smart sensors, increasing efficiency, and reducing maintenance costs for modern smart SHM systems. This study presents a theoretical foundation for the proposed framework, the validation of which through actual field trials is a scope for future work.

Model Analysis on Factors Affecting Maternal Acceptance - Rejection - Mediating Effects of Parenting Stress - (어머니의 수용-거부에 영향을 미치는 요인에 관한 모형분석 - 양육스트레스의 매개효과를 중심으로 -)

  • Lee, Ju Lie
    • Korean Journal of Child Studies
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    • v.29 no.2
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    • pp.57-71
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    • 2008
  • This study examined the influences on maternal acceptance-rejection and mediating effects of parenting stress. Participants were 150 mothers of children aged 3 to 6 in Seoul and Jeju. Research questions were analyzed by structural equation modeling. Results showed that children's age, congenital diseases or anomalies, planned pregnancy, and father's occupation influenced maternal acceptance-rejection directly. Mothers' perceived treatment in childhood and fathers' age influenced parenting stress; parenting stress, in turn, influenced maternal acceptance-rejection. Fathers' age influenced parenting stress negatively; parenting stress, in turn, influenced maternal acceptance-rejection positively.

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