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Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

Jong Hee Chae, Hee Hwang, Yong Seung Hwang, Hee Jung Cheong, Ki Joong Kim
2004 Journal of Child Neurology  
To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1 frameshift mutation. One was a novel mutation (S134P). There was a tendency for patients who had a nonsense mutation in the transcriptional
more » ... pression domain region to show earlier onset of regression and more severe language retardation than patients with a mutation in the methyl-CpG binding domain region. However, the parameters of clinical severity were variable among patients with the same type of mutation, depending on the pattern of X-chromosome inactivation. This study suggests that the X-chromosome inactivation pattern can modify the phenotype of Rett syndrome, which is primarily determined by the type and site of MECP2 gene mutation
doi:10.1177/08830738040190070501 pmid:15526954 fatcat:nj6qy7cx5ffmnm42sqkyvvkqaa

SCN1A mutational analysis in Korean patients with Dravet syndrome

Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ji-Eun Choi, Yong Seung Hwang, Seong-Ho Kang, Chang-Seok Ki, Ki Joong Kim
2011 Seizure  
doi:10.1016/j.seizure.2011.08.002 pmid:21868258 fatcat:xvhzlygzufbclieb34n4x3cdlm

3299247.pdf

Seung Beom Park, Kyungseung Kim, Wosik Cho, Sungin Hwang, Igor Ivanov, Chang Hee Nam, Kyung Taec Kim
2018 Figshare  
Supplementary Material
doi:10.6084/m9.figshare.5968957 fatcat:sl4sujsbsfdyhbineizcm5ffbm

Development of a Four-Rotor Cyclocopter

In Seong Hwang, Seung Yong Min, Choong Hee Lee, Seung Jo Kim
2008 Journal of Aircraft  
Development of a Four-Rotor Cyclocopter In Seong Hwang,* Seung Yong Min,* Choong Hee Lee,* and Seung Jo Kim' Seoul National University, Seoul 151-742, Republic of Korea DOI: 10.2514/1.35575 A cyclocopter  ...  In the rotor design step, the 2152 HWANG ET AL. Fig. 1 Concept of the cycloidal blade system.  ... 
doi:10.2514/1.35575 fatcat:ovr7pnjcoradzccje5qvrdgt3q

Magnetoencephalography in Pediatric Lesional Epilepsy Surgery

Hunmin Kim, Byung Chan Lim, Woorim Jeong, June Sic Kim, Jong-Hee Chae, Ki Joong Kim, Chun Kee Chung, Yong Seung Hwang, Hee Hwang
2012 Journal of Korean medical science  
This study was performed to assess the usefulness of magnetoencephalography (MEG) as a presurgical evaluation modality in Korean pediatric patients with lesional localizationrelated epilepsy. The medical records and MEG findings of 13 pediatric patients (6 boys and 7 girls) with localization-related epilepsy, who underwent epilepsy surgery at Seoul National University Children's Hospital, were retrospectively reviewed. The hemispheric concordance rate was 100% (13/13 patients). The lobar or
more » ... onal concordance rate was 77% (10/13 patients). In most cases, the MEG spike sources were clustered in the proximity of the lesion, either at one side of the margin (nine patients) or around the lesion (one patient); clustered spike sources were distant from the lesion in one patient. Among the patients with clustered spike sources near the lesion, further extensions (three patients) and distal scatters (three patients) were also observed. MEG spike sources were well lateralized and localized even in two patients without focal epileptiform discharges in the interictal scalp electroencephalography. Ten patients (77%) achieved Engel class I postsurgical seizure outcome. It is suggested that MEG is a safe and useful presurgical evaluation modality in pediatric patients with lesion localization-related epilepsy.
doi:10.3346/jkms.2012.27.6.668 pmid:22690099 pmcid:PMC3369454 fatcat:pxjwrf3gjzb4xp3l7422oq6zlm

The Impacts of Signaling Time on the Performance of Fast Handovers for MIPv6 [chapter]

Seung-Hee Hwang, Youn-Hee Han, Jung-Hoon Han, Chong-Sun Hwang
2004 Lecture Notes in Computer Science  
A Fast Handover protocol (FMIPv6) in IETF working group is proposed to reduce the handover latency in Mobile IPv6 standard protocol. The FMIPv6 proposes some procedures for fast movement detection and fast binding update to minimize the handover latency. Additionally, to reduce the lost packets caused by a handover, this protocol introduces buffers in access routers. However, the handover latency or the amount of lost packets are affected by the time to send signals such as Fast Binding Update
more » ... essage for the fast handover. In this paper, we inspect the impacts of the signaling time on packet loss and handover latency in FMIPv6 through the numerical analysis, we propose the optimal signaling time to improve the performance of FMIPv6 in terms of the handover latency and lost packets.
doi:10.1007/978-3-540-30199-8_2 fatcat:452lggwokvgqlmlrnioqfekyg4

Spatial Skyline Queries: An Efficient Geometric Algorithm [article]

Wanbin Son, Mu-Woong Lee, Hee-Kap Ahn, Seung-won Hwang
2009 arXiv   pre-print
As more data-intensive applications emerge, advanced retrieval semantics, such as ranking or skylines, have attracted attention. Geographic information systems are such an application with massive spatial data. Our goal is to efficiently support skyline queries over massive spatial data. To achieve this goal, we first observe that the best known algorithm VS2, despite its claim, may fail to deliver correct results. In contrast, we present a simple and efficient algorithm that computes the
more » ... t results. To validate the effectiveness and efficiency of our algorithm, we provide an extensive empirical comparison of our algorithm and VS2 in several aspects.
arXiv:0903.3072v1 fatcat:dtazchhtg5a6ppc4hoo22kkspu

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome

Jin Sook Lee, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
2016 Journal of Clinical Neurology  
and PurposezzFew studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression and neurological outcome. MethodszzThirty-nine patients who had been diagnosed with LS at the Seoul National University Children's Hospital were included. Their medical records, neuroimaging findings, and
more » ... logical/biochemical findings of skeletal muscle specimens were reviewed. Targeted sequencing of mitochondrial DNA was performed based on mitochondrial respiratory chain (MRC) enzyme defects. ResultszzIsolated complex I deficiency was the most frequently observed MRC defect (in 42% of 38 investigated patients). Mitochondrial DNA mutations were identified in 11 patients, of which 81.8% were MT-ND genes. The clinical outcome varied widely, from independent daily activity to severe disability. Poor functional outcomes and neurological deterioration were significantly associated with early onset (before an age of 1 year) and the presence of other lesions additional to basal ganglia involvement in the initial neuroimaging. ConclusionszzThe neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies. We suggest that age at onset and initial neuroimaging findings are prognostic indicators in LS.
doi:10.3988/jcn.2016.12.2.181 pmid:27074294 pmcid:PMC4828564 fatcat:2doit3lo4bfxll63liqfrn2nb4

MSSQ: Manhattan Spatial Skyline Queries

Wanbin Son, Seung-won Hwang, Hee-Kap Ahn
2014 Information Systems  
doi:10.1016/j.is.2013.10.001 fatcat:uj5poppewjgzxgpzkfxnjm3vzq

Case report of periorbital metastasis from rectal cancer

Jin-Hee Paik, Hyun Jin Shin, Hye Seung Lee, Hye Seung Han, Chun-Geun Ryu, Dae-Yong Hwang
2020 Medicine  
Periorbital metastasis of colorectal cancer is rare. Therefore, herein, we report a patient with rectal cancer who presented with periorbital metastasis without any systemic metastasis. The patient was a 57-year-old man who had a painless nodule on his left eyelid. The patient presented with loose and frequent stools and was diagnosed with rectal adenocarcinoma via colonoscopic biopsy at the local clinic. Curative resection (low anterior resection with temporary ileostomy formation) was
more » ... d 4 weeks after completing chemoradiotherapy. The final TNM stage was yp stage T2N0M0. Eight months after the diagnosis of rectal cancer, a protruding lesion was noticed on the patient's left eyelid. Histologic evaluation of the nodule revealed metastatic adenocarcinoma of rectal cancer. The patient received neoadjuvant chemoradiotherapy and curative resection for rectal cancer. After excision of the periorbital nodule, he received 5 cycles of chemotherapy. The patient underwent regular follow-up because he was not able to endure chemotherapy; no recurrence has been observed 21 months after the diagnosis of rectal cancer. Histologic examination revealed metastatic adenocarcinoma of rectal cancer on the patient's left eyelid. However, consecutive imaging studies revealed no other metastatic lesions. Finally, the patient was diagnosed with a solitary periorbital metastasis of rectal cancer. This case report helps in understanding the course of progression from rectal cancer to periorbital metastasis.
doi:10.1097/md.0000000000018479 pmid:31895780 pmcid:PMC6946509 fatcat:4zbvisl445dqzofull6adfqrxi

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
2012 Korean Journal of Pediatrics  
An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed
more » ... iomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.
doi:10.3345/kjp.2012.55.9.350 pmid:23049593 pmcid:PMC3454578 fatcat:iz2ym63yu5abnp55azhuyo2hme

Expression of Caveolin-1 in Rat Urinary Bladder with Cyclophosphamide-Induced Cystitis

Sun-Ouck Kim, Seung Hee Song, Seung-Chul Lee, Kyung A Cho, Ho Song Yu, In Sang Hwang, Eu Chang Hwang, Dongdeuk Kwon
2012 International Neurourology Journal  
The purposes of this study were to investigate the effect of cyclophosphamide (CYP)-induced inflammatory cystitis on caveolin 1 in rat urinary bladder and to determine the role of these molecules in the bladder dysfunction that occurs in inflammatory change in rat urinary bladder. Female Sprague-Dawley rats were divided into control (n=30) and experimental (n=30) groups. Cystitis in experimental group was induced by intraperitoneal injection of CYP (200 mg/kg). The control group underwent an
more » ... raperitoneal saline injection. After 3 days, urodynamic studies were done to measure the contraction interval and contraction pressure. The expression and cellular localization of caveolin 1 were determined by Western blot and immunofluorescent study in rat urinary bladder. In cystometrograms, the contraction interval (minute) was significantly increased in the CYP-induced cystitis rats (15.8±1.5) than in the control group (6.3±0.5) (P<0.05). Conversely, the average contraction pressure (mmHg) was significantly higher in the CYP-induced cystitis rats (15.6±1.7) than in the control group (11.3±0.5) (P<0.05). Caveolin 1 was expressed in the capillaries, arteriols and venules. The protein expression of caveolin 1 was significantly decreased in the CYP-induced cystitis rats (P<0.05). Inflammatory change of urinary bladder maybe causes a significant change in the expression of caveolin 1. These findings suggest that caveolin 1 might have a functional role in the bladder dysfunction related with cystitis in rat urinary bladder.
doi:10.5213/inj.2012.16.4.169 pmid:23346482 pmcid:PMC3547177 fatcat:tpe6ytyotjawjmzadvgqdk746y

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
2012 Korean Journal of Pediatrics  
An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed
more » ... iomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.
doi:10.3345/kjp.2012.55.9.400 fatcat:gpqx3grlxfdsbb6d6vyhu7b4yi

Expression and Localization of Aquaporins in Benign Prostate Hyperplasia and Prostate Cancer

Insang Hwang, Seung-Il Jung, Eu-Chang Hwang, Seung Hee Song, Hyun-Suk Lee, Sun-Ouck Kim, Taek-Won Kang, Dongdeuk Kwon, Kwangsung Park
2012 Chonnam medical journal  
The aquaporin (AQP) families of water channels are intrinsic membrane proteins that facilitate selective water and small solute movement across the plasma membrane. The purposes of this study were to determine the expression and localization of AQPs in benign prostatic hyperplasia and prostate cancer. Prostatic tissue was collected from patients with benign prostatic hyperplasia or prostate cancer by transurethral resection of the prostate. The expression and cellular localization of the AQPs
more » ... re determined in the human prostate by Western blot and immunohistochemistry. AQP1, 3, and 9 were expressed in the human prostate. Western blot analysis revealed bands at 28-36 kDa for the AQP1, 3, and 9 proteins. Of these proteins, AQP3 and 9 were expressed in the epithelium. Immunolabeling showed that AQP1 was mainly expressed in the capillaries and venules of the prostate, AQP9 was expressed in the cytoplasm of the epithelium, and AQP3 was mainly associated with the plasma membrane of the prostatic epithelium. Only AQP3 expression was localized in the cell membrane, and expressed AQP3 was translocated to the cytoplasm in prostate cancer. The epithelium in the human prostate expresses AQP3 and 9 proteins, and the capillaries and venules of the prostate express AQP1. Characterizing or modifying the expression of AQP3 may lead to an understanding of the role of the AQPs in human prostatic disease.
doi:10.4068/cmj.2012.48.3.174 pmid:23323224 pmcid:PMC3539099 fatcat:zb6d326uenblrl5fen55xcezge

MRI of Intraspinal Cysticercosis

Seung Cheol Kim, Moon Hee Han, Kee Hyun Chang, Gi Seok Han, Hee Young Hwang
1995 Journal of the Korean Radiological Society  
Purpose ; To describethe MR features of intraspinal cysticercosis. Materials and Methods ; Medical records and MR images of four cases of intraspinal cysticercosis were retrospectively reviewed. The MR findings were described with regard to the location and signal intensity of the lesions, contrast enhancement, presence or absence of associated intracranial cysticerci , and otherfindings. Results ; There were three cases of subarachnoidal form and one case of intramedullary form. Cysticerci of
more » ... ubarachnoidal form in three cases were located i n retromedu lI ary space at C2 level, anterior to cord at C1 -C6 levels, and lumbosacral area , respectively. The signal intensities of the lesions were same as those of CSF. Localized arachnoidal enhancement wasfound in all three cases.ln one case there was a large area of high signal intensity with i n the spinal cord on T2 -weighted image suggesting either ischemia secondary to vascular compromise or inflammatory edema . AII of these three cases accompanied intracranial cysticercosis . lntramedullary cysticercosis in onecase wasshown as a single 1 cm cystic lesion at C2 level, which showed hypointense signal on T1 -weighted image, hyperintense signal on T2 -weighted image, and signet -ring -like enhancement. This lesion did not accompany intracranial cysticerci. Conclusion; Intraspinal cysticercosis manifested as single or multiple cysts within either spinal cord or subarachnoid space, and were frequently associated with arachnoiditis.
doi:10.3348/jkrs.1995.32.1.33 fatcat:6yex4mn4sfa35mmjr4vsjjok2q
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