Hong, Jun Ho;Kim, Se Hee;Lee, Seung Tae;Choi, Jong Rak;Kang, Hoon Chul;Lee, Joon Soo;Kim, Heung Dong
Journal of the Korean Child Neurology Society
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v.26
no.4
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pp.272-275
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2018
KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.
Kim, Jin Kyem;Yoon, Haesung;Lee, Mi-Jung;Kim, Myung-Joon;Han, Kyunghwa;Koh, Hong;Kim, Seung;Han, Seok Joo;Shin, Hyun Joo
Investigative Magnetic Resonance Imaging
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v.23
no.3
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pp.251-258
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2019
Purpose: To assess the feasibility of the use of spin-echo echo-planar imaging (SE-EPI) magnetic resonance elastography (MRE) in livers of children and young adults. Materials and Methods: Patients (${\leq}20$ years old) who underwent 3T SE-EPI MRE were included retrospectively. Subjects were divided into three groups according to the purpose of the liver MRI: suspicion of fatty liver or focal fat deposition in the liver (FAT group), liver fibrosis after receiving a Kasai operation from biliary atresia (BA group), and hepatic iron deposition after receiving chemotherapy or transfusions (IRON group). Technical failure of MRE was defined when a stiffness map showed no pixel value with a confidence index higher than 95%, and the patients were divided as success and failure groups accordingly. Clinical findings including age, gender, weight, height, and body mass index and magnetic resonance imaging results including proton density fat fraction (PDFF), $T2^*$, and MRE values were assessed. Factors affecting failure of MRE were evaluated and the image quality in wave propagation image and stiffness map was evaluated using the appropriate scores. Results: Among total 240 patients (median 15 years, 211 patients in the FAT, 21 patients in the BA, and 8 patients in the IRON groups), technical failure was noted in six patients in the IRON group (6/8 patients, 75%), while there were no failures noted in the FAT and BA groups. These six patients had $T2^*$ values ranging from 0.9 to 3.8 ms. The image quality scores were not significantly different between the FAT and BA groups (P > 0.999), while the scores were significantly lower in the IRON group (P < 0.001). Conclusion: The 3T SE-EPI MRE in children and young adults had a high technical success rate. The technical failure was occurred in children with decreased $T2^*$ value (${\leq}3.8ms$) from iron deposition.
Objectives : Upper airway resistance syndrome(UARS) is a sleep-related breathing disorder characterized by abnormal negative intrathoracic pressure during sleep. Abnormally increased negative intrathoracic pressure results in microarousal and sleep fragmentation which underlay UARS-associated complaints of daytime fatigue and sleepiness. Although daytime dysfunction in patients with UARS is comparable to that of sleep apnea syndrome, UARS has been relatively unnoticed in clinical setting. That is why UARS is apt to be excluded in diagnosing of sleep-related breathing disorders since its respiratory disturbance index and arterial oxygen saturation are within normal limits. The current study presents a summary of clinical and polysomnographic characteristics found in patients with UARS. The present study aims (1) to explore characteristics of patients diagnosed with UARS, (2) to characterize the polysomnographic findings of UARS patients, and (3) to enhance the understanding of UARS through those clinical and laboratory characteristics. Methods : This was a retrospective study of 20 UARS patients (male 15, female 5) and 30 obstructive sleep apnea (OSA) patients (male 21, female 9) at the Stanford Sleep Disorders Clinic. We diagnosed patients as having UARS when they met critenia, RDI < 5 characteristic findings of an elevated esophageal pressure($<-10\;cmH_2O$), frequent arousals secondary to an elevated esophageal pressure, and symptoms of daytime fatigue and sleepiness. We used polysomnographic value, which is standardized by Williams et al(1974), as normal control. Statiotical test were done with student t-tests. Results : (1) Mean age of UARS was $41.0\;{\pm}\;14.8$ years and OSA was $50.9\;{\pm}\;12.0$ years. UARS subject was significantly younger than OSA subject (p<0.05). (2) The total score of Epworth Sleepiness Scale (ESS) was UARS $9.7\;{\pm}\;6.3$ and OSAS $11.2\;{\pm}\;6.3$. There was no significant difference between two groups. (3) The mean body mass index was UARS $28.1\;{\pm}\;5.7\;kg/m^2$ and OSAS $32.9\;{\pm}\;7.0\;kg/m^2$. UARS had significantly lower meen body man index than OSAS subjects (p<0.05). (4) The polysomnographic parameters of UARS were not significantly different from those of OSA except RDI(p<0.001), $SaO_2$ (p<0.001) and slow wave sleep latency (p<0.05). (5) Compared with normal control, Total sleep time in UARS subjects was significantly shorter (p<0.001), sleep efficiency index was significantly lower (p<0.001), total awakening percentage was significantly higher (p<0.001), and sleep stage 1 (p<0.001) were significantly higher. (6) OSA patients showed poor sleep quality and distinct abnormal sleep architectures compared with normal control. Conclusions : Conclusions from the above results are as follows : (1) UARS patients were younger and had lower body mass index when umpared with OSA patients. (2) The quality of sleep and sleep architectures of the UARS and OSA patients are significantly different from those of normal control. (3) ESS scores and awakening frequencies of UARS are similar with those of OSA, suggesting that daytime dysfunction of UARS patients may be comparable to those of OSA patients. (4) The RDI and the $SaO_2$ which are important indicators in diagnosing sleep-related breathing disorders, of UARS subjects are close to normal value. (5) According to the the above results, we unclude that despite the absence of $SaO_2$ drops and the absence of an elevated number of apnea and hypopnea, subjects developed clinical complaints which were associated with laborious breathing, elevated Pes nadir, and frequently snoring. (6) Accordingly, we suggest including LIARS in the differential diagnosis list when sleep related breathing disorder is suspected clinically and overnight polysomnographic findings except snoring and frequent microarousal are within normal limits.
Three earthquakes with local magnitude ($M_L$) greater than 3.0 occurred on April 24, June 2 and September 12 in 1999 nearby the Gyeongju area. Redetermined epicenters were located within the radius of 1 km. We carried out waveform inversion analysis to estimate focal mechanism of June 2 event, and P and S wave polarity and their amplitude ratio analysis to estimate focal mechanisms of April 24 and September 12 events. June 2 and September 12 events had similar fault plane solutions each other. The fault plane solution of April 24 event included those of other 2 events, but its distribution range was relatively broad. Focal mechanisms of those events had a strike slip faulting with a small normal component. P-axes of those events were ENE-WSW which were similar to previous studies on the P-axis of the Korean Peninsula. Considering distances between epicenters, similarities of seismic waves and sameness of polarities of seismic data recorded at common seismic stations, these events might occurred at the same fault. The seismic moment of June 2 event was estimated to be $3.9\;{\times}\;10^{14}\;N{\cdot}m$ and this value corresponded to the moment magnitude ($M_W$) 3.7. The moment magnitude estimated by spectral analysis was 3.8, which was similar to that estimated by waveform inversion analysis. The average stress drop was estimated to be 7.5 MPa. Moment magnitudes of April 24 and September 12 events were estimated to be 3.2 and 3.4 by comparing the spectrum of those events recorded at common single seismic station.
Journal of the korean academy of Pediatric Dentistry
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v.29
no.2
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pp.217-225
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2002
When we use the flowable resin on the primary molars for quick handling, one of the most important property is the wear resistance. This study was performed to compare the wear resistance characteristics of four flowable composite resins [Arabesk flow (group 1), Tetric flow (group 2), Aeliteflow (group 3), Filtek flow (group 4)] to that of one control composite resin [Z100 (group 5)]. Specimen discs(n=10), 10mm wide and 2mm thick, were stored in distilled water at $37^{\circ}C$ for 7 days prior to testing. The specimens were subjected to 50,000 strokes at 2 Hz on the MTS system. During the test, the following parameters were maintained: the lateral excursion at 0.4mm, occlusal force at 2-100N with a force profile in the form of a half sine wave. The measurements of volume loss, depth of wear, and Vicker's hardness number of composite resins, and SEM observations of the polished and abraded surfaces were established. One-way ANOVA and Scheffe's multiple comparison test were employed to detect statistically significant differences among the flowable composite resin groups and the control composite group at P<.05. The following results were obtained: 1. Group 3 showed the least volume loss, while group 4 showed the greatest. The mean volume loss increased in the following order: group 3
This study was carried out to develop the forecasting model of Pseudococcus comtocki Kuwana for timing spray. Field phonology and temperature-dependent development of p. comstocki were studied, and its stage transition models were developed. p comstocki occurred three generations a year in Suwon. The 1 st adults occurred during mid to late June, and the 2nd adults were abundant during mid to late August. The 3rd adults were observed after late October. The development times of each instar of p. comstocki decreased with increasing temperature up to 25$^{\circ}C$, and thereafter the development times increased. The estimated low-threshold temperatures were 14.5, 8.4, 10.2, 11.8, and 10.1$^{\circ}C$ for eggs, 1st+2nd nymphs, 3rd nymphs, preoviposition, and 1st nymphs to preoviposition, respectively. The degree-days (thermal constants) for completion of each instar development were 105 DD for egg,315 DD for 1st+2nd nymph, 143 DD for 3rd nymph, 143 DD for preoviposition, and 599 DD for 1 st nymph to preoviposition. The stage transition models of p. comstocki, which simulate the proportion of individuals shifted from a stage to the next stage, were constructed using the modified Sharpe and DeMichele model and the Weibull function. In field validation, degree-day models using mean-minus-base, sine wave, and rectangle method showed 2-3d, 1-7d, and 0-6 d deviation with actual data in predicting the peak oviposition time of the 1st and 2nd generation adults, respectively. The rate summation model, in which daily development rates estimated by biophysical model of Sharpe and DeMichele were accumulated, showed 1-2 d deviation with actual data at the same phonology predictions.
The most critical point in the medical use of radiation is to minimize the patient's entrance dose while maintaining the diagnostic function. Low-energy photons (long wave X-ray) among diagnostic X-rays are unnecessary because they are mostly absorbed and contribute the increase of patient's entrance dose. The most effective method to eliminate the low-energy photons is to use the filtering plate. The experiments were performed by observing the image quality. The skin entrance dose was 0.3 mmCu (copper) filter. A total of 80 images were prepared as two sets of 40 cuts. In the first set (of 40 cuts), 20 cuts were prepared for the non-filter set and another 20 cuts for the Cu filter of signal + noise image set. In the second set of 40 cuts, 20 cuts were prepared for the non-filter set and another 20 cuts for the Cu filter of non-signal image (noisy image) with random location of diameter 4 mm and 3 mm thickness of acryl disc for ROC signal at the chest phantom. P(S/s) and P(S/n) were calculated and the ROC curve was described in terms of sensitivity and specificity. Accuracy were evaluated after reading by five radiologists. The number of optically observable lesions was counted through ANSI chest phantom and contrast-detail phantom by recommendation of AAPM when non-filter or Cu filter was used, and the skin entrance dose was also measured for both conditions. As the result of the study, when the Cu filter was applied, favorable outcomes were observed on, the ROC Curve was located on the upper left area, sensitivity, accuracy and the number of CD phantom lesions were reasonable. Furthermore, if skin entrance dose was reduced, the use of additional filtration may be required to be considered in many other cases.
Journal of the Microelectronics and Packaging Society
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v.28
no.3
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pp.1-7
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2021
In this paper, by embedding a bare-die chip-type drive amplifier into the PCB composed of ABF and FR-4, it implements an embedded active device that can be applied in 28 GHz band modules. The ABF has a dielectric constant of 3.2 and a dielectric loss of 0.016. The FR-4 where the drive amplifier is embedded has a dielectric constant of 3.5 and a dielectric loss of 0.02. The proposed embedded module is processed into two structures, and S-parameter properties are confirmed with measurements. The two process structures are an embedding structure of face-up and an embedding structure of face-down. The fabricated module is measured on a designed test board using Taconic's TLY-5A(dielectric constant : 2.17, dielectric loss : 0.0002). The PCB which embedded into the face-down expected better gain performance due to shorter interconnection-line from the RF pad of the Bear-die chip to the pattern of formed layer. But it is verified that the ground at the bottom of the bear-die chip is grounded Through via, resulting in an oscillation. On the other hand, the face-up structure has a stable gain characteristic of more than 10 dB from 25 GHz to 30 GHz, with a gain of 12.32 dB at the center frequency of 28 GHz. The output characteristics of module embedded into the face-up structure are measured using signal generator and spectrum analyzer. When the input power (Pin) of the signal generator was applied from -10 dBm to 20 dBm, the gain compression point (P1dB) of the embedded module was 20.38 dB. Ultimately, the bare-die chip used in this paper was verified through measurement that the oscillation is improved according to the grounding methods when embedding in a PCB. Thus, the module embedded into the face-up structure will be able to be properly used for communication modules in millimeter wave bands.
Purpose: We investigated the role of myocardial perfusion SPECT in prediction of ventricular dilatation and the role of revascularization including thrombolytic therapy and PTCA in prevention of ventricular dilatation after an acute myocardial infarction (AMI). Materials and Methods: We performed dipyridamole stress, 4 hour redistribution, and 24 hour reinjection Tl-201 SPECT in 16 patients with AMI two to nine days after attack. Perfusion and wall motion abnormalities were quantified by perfusion index (PI) and wall motion index (WMI). Left ventricular ejection fraction (LVEF), WMI and ventricular volume were measured within 1 week of AMI and after average of 6 months. According to serial changes of left ventricular end-diastolic volume (LVEDV), patients were divided into two groups. We compared WMI, PI and LVEF between the two groups. Relationships among degree of volume, stress-rest PI, WMI, CKMB, Q wave, LVEF and revascularization were analysed using multivariate analysis. Results: Only initial rest perfusion index was significantly different between the two groups (p<0.05). While initial LVEF, stress PI, CKMB, trial of revascularization procedure, presence of Q wave and WMI were not significantly different between the two groups. Eight of 16 patients (50%) showed LV dilatation on follow-up echocardiography. Three of 3 patients (100%) who did not undergo revascualrization procedure documented LV dilatation. And only 5 (38%) of the remaining 13 patients who underwent revascularization revealed LV dilatation. There was no difference in infarct location between the two groups. By multivariate linear regression analysis in patients only undergoing revascularization, rest perfusion index was the only significant factor. Conclusion: Myocardial perfusion SPECT performed prior to revascularization was useful in prediction of LV dilatation after an AMI. Rest perfusion index on myocardial perfusion plays as a significant predictor of left ventricular dilatation after AMI. And revascularization appears to be a valuable procedure in alleviating LV dilatation after AMI with or without viable myocardium in a limited number of patients studied retrospectively.
The purpose of this study is to investigate the formation and development processes of beach resort by fabric construction in a island environment. The results are as follows. (1) The research area(Tong-ri beach, Bokil-myon, Chollanam-do)has been transformed to belch by sedimentary environmental change since latter half of 1800's. (2) The mean slope of beach face is 0.96°, and the difference of attitude between beach and mud flat face is 75cm. (3) The mean particle size of beach surface sediment is 3.53$\Phi$. This value is very finer than that of any other beach in Korea peninsula. But its value is coarser than that of mud flat surface sediment. (4) The particle size distribution of core sediment is become changed to fine particle in 70cm depth. This value is corresponded to difference of altitude between beach face and mud flat face. (5) The analysis of aerial photographs after 1970 indicates that sedimentation process was not brisked since 1970's. Consequently, the research ares has been developed by sedimentary environmental change for sea-level rise effect and wave height energy rise effect.
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