• Title/Summary/Keyword: center detection

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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.

Disease Progression from Chronic Hepatitis C to Cirrhosis and Hepatocellular Carcinoma is Associated with Increasing DNA Promoter Methylation

  • Zekri, Abd El-Rahman Nabawy;Nassar, Auhood Abdel-Monem;El-Rouby, Mahmoud Nour El-Din;Shousha, Hend Ibrahim;Barakat, Ahmed Barakat;El-Desouky, Eman Desouky;Zayed, Naglaa Ali;Ahmed, Ola Sayed;Youssef, Amira Salah El-Din;Kaseb, Ahmed Omar;El-Aziz, Ashraf Omar Abd;Bahnassy, Abeer Ahmed
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6721-6726
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    • 2013
  • Background: Changes in DNA methylation patterns are believed to be early events in hepatocarcinogenesis. A better understanding of methylation states and how they correlate with disease progression will aid in finding potential strategies for early detection of HCC. The aim of our study was to analyze the methylation frequency of tumor suppressor genes, P14, P15, and P73, and a mismatch repair gene (O6MGMT) in HCV related chronic liver disease and HCC to identify candidate epigenetic biomarkers for HCC prediction. Materials and Methods: 516 Egyptian patients with HCV-related liver disease were recruited from Kasr Alaini multidisciplinary HCC clinic from April 2010 to January 2012. Subjects were divided into 4 different clinically defined groups - HCC group (n=208), liver cirrhosis group (n=108), chronic hepatitis C group (n=100), and control group (n=100) - to analyze the methylation status of the target genes in patient plasma using EpiTect Methyl qPCR Array technology. Methylation was considered to be hypermethylated if >10% and/or intermediately methylated if >60%. Results: In our series, a significant difference in the hypermethylation status of all studied genes was noted within the different stages of chronic liver disease and ultimately HCC. Hypermethylation of the P14 gene was detected in 100/208 (48.1%), 52/108 (48.1%), 16/100 (16%) and 8/100 (8%) among HCC, liver cirrhosis, chronic hepatitis and control groups, respectively, with a statistically significant difference between the studied groups (p-value 0.008). We also detected P15 hypermethylation in 92/208 (44.2%), 36/108 (33.3%), 20/100 (20%) and 4/100 (4%), respectively (p-value 0.006). In addition, hypermethylation of P73 was detected in 136/208 (65.4%), 72/108 (66.7%), 32/100 (32%) and 4/100 (4%) (p-value <0.001). Also, we detected O6MGMT hypermethylation in 84/208 (40.4%), 60/108 (55.3%), 20/100 (20%) and 4/100 (4%), respectively (p value <0.001. Conclusions: The epigenetic changes observed in this study indicate that HCC tumors exhibit specific DNA methylation signatures with potential clinical applications in diagnosis and prognosis. In addition, methylation frequency could be used to monitor whether a patient with chronic hepatitis C is likely to progress to liver cirrhosis or even HCC. We can conclude that methylation processes are not just early events in hepatocarcinogenesis but accumulate with progression to cancer.

Significance of Serum Ferritin in Multiple Trauma Patients with Acute Respiratory Distress Syndrome (다발성 외상 환자에서 발생되는 급성 호흡 곤란 증후군의 예측 인자로서 혈청 페리틴의 의의)

  • Ji, Yae-Sub;Kim, Nak-Hee;Jung, Ho-Geun;Ha, Dong-Yeup;Jung, Ki-Hoon
    • Journal of Trauma and Injury
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    • v.20 no.2
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    • pp.57-64
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    • 2007
  • Purpose: Clinically, acute respiratory distress syndrome (ARDS) occurs within 72 hours after acute exposure of risk factors. Because of its high fatality rate once ARDS progresses, early detection and management are essential to reduce the mortality rate. Accordingly, studies on early changes of ARDS were started, and serum ferritin, as well the as injury severity score (ISS), which has been addressed in previous studies, thought to be an early predictive indicator for ARDSMethods: From March 2003 to March 2005, we investigated 50 trauma patients who were admitted to the intensive care unit in Dongguk University Medical Center, Gyeongju. The patients were characterized according to age, sex, ISS, onset of ARDS, time onset of ARDS, serum ferritin level (posttraumatic $1^{st}\;&\;2^{nd}$ day), amount of transfused blood, and death. Abdominal computed topography was performed as an early diagnostic tool to evaluate the onset of ARDS according to its diagnostic criteria. The serum ferritin was measured by using a $VIDAS^{(R)}$ Ferritin (bioMeriux, Marcy-1' Etoile, France) kit with an enzyme-linked fluorescent assay method. For statistical analysis, Windows SPSS 13.0 and MedCalc were used to confirm the probability of obtaining a predictive measure from the receiver operating characteristics (ROC) curve. Results: The ISS varied from 14 to 66 (mean: 33.8) whereas the onset of ARDS could be predicted with the score above 30 (sensitivity: 90.0%, specificity: 60.0%, p<0.05). On the posttraumatic $1^{st}$ day, the serum ferritin levels were measured to be from 31 mg/dL to 1,200 mg/dL (mean: 456 mg/dL), and the onset of ARDS could be predicted when the value was over 340 mg/dL (sensitivity: 80.0%, specificity: 65.0%, p<0.05). On the posttraumatic $2^{nd}$ day, the serum ferritin levels were measured to be from 73 mg/dL to 1,200 mg/dL (mean: 404 mg/dL), and the onset of ARDS could be predicted when the value was over 627 mg/dL (sensitivity: 60.0%, specificity: 92.5%, p<0.05). The serum ferritin levels and the ISS were significantly higher on the posttraumatic $1^{st}$ and $2^{nd}$ day in the ARDS group, suggesting that they are suitable indices predicting the onset of ARDS, however relationship between the serum ferritin levels and the ISS was not statistically significant. Conclusion: In this study, we discovered increasing serum ferritin levels in multiple- trauma patients on the posttraumatic $1^{st}$ & $2^{nd}$ day and concluded that both the serum ferritin level and the ISS were good predictors of ARDS. Although they do not show statistically significant relationship to each other, they can be used as independent predictive measures for ARDS. Since ARDS causes high mortality, further studies, including the types of surgery and the methods of anesthesia on a large number of patients are essential to predict the chance of ARDS earlier and to reduce the incidence of death.

Vitamin C Quantification of Korean Sweet Potatoes by Cultivar and Cooking Method (국내산 고구마의 품종 및 조리방법별 비타민 C 함량)

  • Hwang, In Guk;Byun, Jae Yoon;Kim, Kyung Mi;Chung, Mi Nam;Yoo, Seon Mi
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.43 no.6
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    • pp.955-961
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    • 2014
  • This study was carried out to investigate the amounts of vitamin C in 22 sweet potato cultivars cultivated in Korea as well as evaluate the effects of cooking methods on vitamin C contents. Methods for determining vitamin C was validated by determining linearity, specificity, limit of detection (LOD), limit of quantification (LOQ), precision, and accuracy using HPLC. Results showed high linearity in the calibration curve with a coefficient of correlation ($R^2$) of 0.9999. The LOD and LOQ values for ascorbic acid (AA) were 0.03 and $0.10{\mu}g/mL$, respectively. The relative standard deviations (RSDs) for intra- and inter-day precision of AA were less than 5%. The recovery rates of AA and dehydroascorbic acid (DHA) were in the range from 98.21~98.64 and 98.28~100.68%, respectively. Depending on cultivar, contents of AA, DHA, and total ascorbic acid (TA) in sweet potatoes varied in the range from 37.76 (Sinyulmi)~89.25 (Juhwangmin), 23.37 (Sinjami)~63.94 (Sinyulmi), and 68.52 (Sinjami)~115.95 (Juhwangmin) mg/100 g, respectively, and their average levels were $56.98{\pm}12.53$, $36.46{\pm}9.03$, and $93.44{\pm}12.00mg/100g$, respectively. The average TA levels were also dependent on flesh color, whish was significantly higher in general sweet potato and orange sweet potato than in purple sweet potato. Steaming, baking, and frying processes significantly reduced AA (10.61~58.41%), DHA (2.57~52.81%), and TA (14.54~49.92%) contents in sweet potatoes. The highest reduction of AA, DHA, and TA contents was observed after baking, followed by steaming and frying. We expect that the basic information provided by this study will be useful to plant breeders and food scientists.

Composition of Amino Acids, Minerals, and Heavy Metals in Differently Cooked Laver (Porphyra tenera) (김(Porphyra tenera)의 조리방법에 따른 아미노산, 무기질, 중금속 함량 분석)

  • Hwang, Eun-Sun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.42 no.8
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    • pp.1270-1276
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    • 2013
  • Laver, a red algae belonging to the genus Porphyra tenera, is one of the most widely consumed edible seaweeds in Korea, China, and Japan. Lavers are usually consumed in dried, roasted, and seasoned forms to improve their palatability. We evaluated the composition of amino acids, minerals, and trace heavy metals in these three differently cooked forms of laver. The moisture and ash contents of three differently cooked lavers ranged from 1.49~9.69% and 6.07~10.31%, respectively. The crude protein and lipid content ranged from 17.24~36.88% and 0.52~42.42%, respectively. Dried laver was found to be a good source of amino acids such as taurine, alanine, and glutamic acid (871.10 mg, 833.53 mg, and 719.77 mg per 100 g dry weight, respectively). Laver was a good source of macro and micro minerals such as K, Ca, Mg, Na, P, I, and Fe, although laver more extensively cooked (roasted and seasoned) contained less minerals compared to the dried form. Mercury levels in the three differently cooked forms of laver were all less than 100 ng/g dry weight (the limit of detection with our methodology). The levels of arsenic were the most abundant elements in the differently cooked laver. There was a clear variation, depending on the cooking process, in terms of amino acid, mineral, and trace metal contents of laver.

Genotypic Investigation of Multidrug-Resistant Pseudomonas aeruginosa from Clinical Isolates in Korea, 2010 (2010년도 국내 임상에서 분리한 다제내성 녹농균의 유전자형 조사)

  • Kim, Min Ji;Cha, Min Kyeong;Lee, Do Kyung;Kang, Ju Yeon;Park, Jae Eun;Kim, Young Hee;Park, Il Ho;Shin, Hea Soon;Ha, Nam Joo
    • Korean Journal of Microbiology
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    • v.48 no.4
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    • pp.240-245
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    • 2012
  • Pseudomonas aeruginosa is an opportunistic Gram-negative bacterium that causes serious infection, particularly in immunocompromised patients. Also, P. aeruginosa possessing carbapenem-resistant metallo-${\beta}$-lactamases (MBL) has been reported with increasing frequency in Korea. We therefore analyzed the level of multidrug-resistant clinical P. aeruginosa isolated from a secondary hospital in Korea in 2010. A total of 92 isolates of P. aeruginosa were collected from Sahmyook Medical Center in 2010. Susceptibility to antimicrobial agents was determined by analysis of the minimum inhibitory concentration test; the inhibitor-potentiated disk diffusion (IPD) test was performed for MBL detection. RAPD-PCR was used for genotyping to rapidly characterize P. aeruginosa strains isolated from clinical patients. The percentages of non-susceptible isolates were as follows: 40.2% to ceftazidime, 58.7% to meropenem, 56.5% to gentamicin, 46.7% to tobramycin, 62.0% to ciprofloxacin and 97.8% to chloramphenicol. The 29 multidrug-resistant strains were screened by the IPD test: of the 21 PCR-positive isolates, 19 were IPM-1 producers and 2 were VIM-2 producers. Among the 19 IMP-1-producing P. aeruginosa isolates, 16 isolates showed similar patterns, and three different banding patterns were observed. The proportion of IMP-1-producing multidrug-resistant P. aeruginosa from clinical isolates steadily increased in this secondary hospital in Korea in 2010. This study provides information about the antimicrobial-resistant patterns and genotype of multidrug-resistant P. aeruginosa isolated from clinical isolates in Korea, 2010.

Residual characteristics of tolclofos-methyl treated by seed dressing in ginseng (인삼 중 종자분의 처리 tolclofos-methyl의 잔류 특성)

  • Noh, Hyun-Ho;Lee, Jae-Yun;Park, So-Hyun;Lee, Kwang-Hun;Park, Hyo-Kyoung;Oh, Jae-Ho;Im, Moo-Hyeog;Kwon, Chan-Hyeok;Lee, Joong-Keun;Woo, Hee-Dong;Kwon, Ki-Sung;Kyung, Kee-Sung
    • The Korean Journal of Pesticide Science
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    • v.16 no.3
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    • pp.217-221
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    • 2012
  • This study was carried out to evaluate residual characteristics of tolclofos-methyl in ginseng and elucidate the reason for its high detection rate from fresh ginseng selling at markets. Seeds of ginseng were sowed after seed dressing with tolclofos-methyl and after a year of growth, the young seedlings were transplanted to field. They were then harvested annually until three-years of growth and the pesticide residue was analyzed in them. LOD and LOQ of the pesticide were 0.001 and 0.003 mg/kg, respectively. Recovery test was carried out to validate the analytical method for tolclofos-methyl in ginseng. The ginseng seedlings were fortified with the test pesticide at the level of LOQ, ten times of LOQ and maximum residue concentration of tolclofos-methyl. Its recovery ranged from 77.37 to 100.16%. Residual concentration of tolclofos-methyl in ginseng seedlings just before transplanting and two-year-old ginseng were from 7.58 to 8.05 and from 6.46 to 6.79 mg/kg, respectively. In case of three-year-old ginseng, it was found to be from 4.18 to 4.35 mg/kg. As a result of annual pesticide residue analysis, concentration of the pesticide was found to decrease time-coursely in ginseng. This may be due to decomposition and increasing of fresh weight of the ginseng during the cultivation periods of three years.

Review of Remote Sensing Studies on Groundwater Resources (원격탐사의 지하수 수자원 적용 사례 고찰)

  • Lee, Jeongho
    • Korean Journal of Remote Sensing
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    • v.33 no.5_3
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    • pp.855-866
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    • 2017
  • Several research cases using remote sensing methods to analyze changes of storage and dynamics of groundwater aquifer were reviewed in this paper. The status of groundwater storage, in an area with regional scale, could be qualitatively inferred from geological feature, surface water altimetry and topography, distribution of vegetation, and difference between precipitation and evapotranspiration. These qualitative indicators could be measured by geological lineament analysis, airborne magnetic survey, DEM analysis, LAI and NDVI calculation, and surface energy balance modeling. It is certain that GRACE and InSAR have received remarkable attentions as direct utilization from satellite data for quantification of groundwater storage and dynamics. GRACE, composed of twin satellites having acceleration sensors, could detect global or regional microgravity changes and transform them into mass changes of water on surface and inside of the Earth. Numerous studies in terms of groundwater storage using GRACE sensor data were performed with several merits such that (1) there is no requirement of sensor data, (2) auxiliary data for quantification of groundwater can be entirely obtained from another satellite sensors, and (3) algorithms for processing measured data have continuously progressed from designated data management center. The limitations of GRACE for groundwater storage measurement could be defined as follows: (1) In an area with small scale, mass change quantification of groundwater might be inaccurate due to detection limit of the acceleration sensor, and (2) the results would be overestimated in case of combination between sensor and field survey data. InSAR can quantify the dynamic characteristics of aquifer by measuring vertical micro displacement, using linear proportional relation between groundwater head and vertical surface movement. However, InSAR data might now constrain their application to arid or semi-arid area whose land cover appear to be simple, and are hard to apply to the area with the anticipation of loss of coherence with surface. Development of GRACE and InSAR sensor data preprocessing algorithms optimized to topography, geology, and natural conditions of Korea should be prioritized to regionally quantify the mass change and dynamics of the groundwater resources of Korea.

Posttransplantation Lymphoproliferative Disorder after Liver Transplantation in Pediatric Patients: Report from a Single-center Over 21 Years (간 이식 소아에서 발생한 이식 후 림프 증식 질환: 단일 기관에서의 21년 경험)

  • Lee, Jung-Hwa;Ko, Jae-Sung;Seo, Jeong-Kee;Yi, Nam-Joon;Suh, Kyung-Suk;Lee, Kuhn-Uk;Kang, Gyeong-Hoon
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.12 no.2
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    • pp.199-206
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    • 2009
  • Purpose: To analyze the clinical spectrum of posttransplantation lymphoproliferative disorder (PTLD) after liver transplantation in children. Methods: From January 1988 to June 2009, we retrospectively reviewed the medical records of 8 PTLD cases among 148 pediatric patients underwent liver transplantation. The age at transplantation, time of presentation after transplantation, clinical manifestations, histologic diagnosis, results of EBV (Epstein-Barr virus) assessments, managements and outcomes of PTLD were investigated. Results: The prevalence of PTLD in liver transplant pediatric recipients was 5.4% (8 of 148). The mean age of patients was 25.4${\pm}$21.3 months (range 10 to 67 months). Seven of 8 patients (87.5%) underwent liver transplantation before 1 year of age. The common clinical presentations were persistent fever (8 of 8, 100%) and bloody diarrhea (6 of 8, 75%). PTLD was diagnosed with gastrointestinal endoscopic biopsies in five patients and surgical biopsies in three. Histologic findings showed early lesion in three patients, polymorphic in two, and monomorphic in three. Burkitt lymphoma and lymphoblastic lymphoma were found in two of 3 monomorphic patients. Seven of 8 patients were found with EBV-positive. Eight patients were treated with dose reduction of immunosuppressants and infusion of ganciclovir. Rituximab was added to four patients. PTLD were successfully managed in all patients except one who died of sepsis during chemotherapy. Conclusion: Major risk factor of PTLD was to undergo liver transplantation before 1 year of age. Continuous monitoring for EBV viral load and gastrointestinal endoscopic biopsy may be useful to early detection of PTLD.

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Clinical Outcomes and Prognosis of Patients with Stent Fracture after Successful Drug-Eluting Stent Implantation (관상동맥 약물 방출 스텐트 삽입 후 스텐트 골절에 대한 임상결과 및 예후)

  • Kim, In-Soo;Han, Jae-Bok;Jang, Seong-Joo
    • Journal of radiological science and technology
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    • v.37 no.2
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    • pp.109-116
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    • 2014
  • Many studies have suggested that in the era of Drug-Eluting Stents(DES) are one of the causes of In-Stent Restenosis(ISR) of Stent Fracture(SF). The present study sought to evaluate clinical characteristics of patients with stent fracture after successful DES implantation. The 4,701 patients were selected for analysis who underwent a follow-up coronary angiography irrespective of ischemic symptoms. The overall incidence of SF was 32 patients(male:female=19:13, Av. age $62.44{\pm}9.8$year, 0.68%). Fractures of Sirolimus-Eluting Stents(SES), Paclitaxel-Eluting Stents(PES), Biolimus A9-Eluting Stents(BES), Everolimus-Eluting Etents(EES), Endothelial Progenitor Cell Capture Stent(EPC) and Zotarolimus-Eluting Stents(ZES) are accounted for 19(59.4%), 9(28.1%), 2(6.3%), 1(3.1%), 1(3.1%) and 0(0%) respectively. SF developed in the left Anterior Dscending(LAD) artery in 16 patients(50%) and in complex(type B2, C) lesions in 25 patients(69.4%). Ten patients were treated with heterogenous DES, the rest being treated with either homogenous DES(3 patients), plain old balloon angioplasty(3 patients), or conservative medical treatment(17 patients). None of the patients with SF suffered from cardiac death during a follow-up period of $32.9{\pm}12.4$ months. The overall rate of DES fracture over up to 3.7 years of follow-up was 0.68% with higher incidence in SES than in PES. SF frequently occurred in the LAD artery and in complex lesions. Of the patients with SF, coronary intervention was performed only when the binary restenosis lesion was significant. During the follow-up, patients with SF have continued on combination antiplatelet therapy. There is a very low rate of major adverse cardiac events(post-detection of SF), especially cardiac death associated with SF.