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      • 칼만증후군(Kallmann's Syndrome) 1례

        김용성,백승훈,유경훈,구기선,형근영,김경년,조정구 圓光大學校 醫科學硏究所 1997 圓光醫科學 Vol.13 No.1-2

        Kallmann's syndrome is the most common form of isolated gonadotropin deficiency, characterized by hypogonadotropic hypogonadism due to GnRH deficiency, delayed puberty and smelling difficulty. It occurs sporadic or familial pattern, and the mode of inheritence has not been fully documented. The defect in patient of Kallmann's syndrome occurs at suprapituitary level involving mechanism that regulate GnRH synthesis or release, so this syndrome classified as a secondary hypogonadotropic hypogonadism. The gonadotropin or pulsatile GnRH administration enable successful stimulation of spermatogenesis and fertility. We have experienced 1 patient with Kallmann's syndrome and presented with the review of the literature.

      • SCISCIESCOPUS

        Safety, tolerability, and anti-tumor activity of olmutinib in non-small cell lung cancer with T790M mutation: A single arm, open label, phase 1/2 trial

        Kim, Dong-Wan,Lee, Dae Ho,Han, Ji-Youn,Lee, Jongseok,Cho, Byoung Chul,Kang, Jin Hyoung,Lee, Ki Hyeong,Cho, Eun Kyung,Kim, Jin-Soo,Min, Young Joo,Cho, Jae Yong,An, Ho Jung,Kim, Hoon-Gu,Lee, Kyung Hee,K Elsevier 2019 Lung cancer Vol.135 No.-

        <P><B>Abstract</B></P> <P><B>Objectives</B></P> <P>The aim of this phase 1/2 study was to evaluate the safety, tolerability, pharmacokinetics and antitumor activity of olmutinib in patients with epidermal growth factor receptor (EGFR)-mutated non-small cell lung cancer (NSCLC) who had failed ≥ 1 previous line of EGFR-tyrosine kinase inhibitor (TKI) therapy.</P> <P><B>Materials and methods</B></P> <P>Phase 1 consisted of dose-escalation and four dose-expansion parts (1: olmutinib 300 mg once daily; 2A: 800 mg once daily [<I>EGFR</I> T790 M mutation-positive patients]; 2B: 500 mg twice daily [<I>EGFR</I> T790 M mutation-positive]; 3: 800 mg once daily [<I>EGFR</I> T790 M mutation-negative]). In phase 2, <I>EGFR</I> T790 M mutation-positive patients received olmutinib 800 mg once daily. Data from expansion part 2A and phase 2 were integrated (`pooled phase 2′). Each olmutinib cycle was 21 days. Outcomes included: tumor response, treatment-emergent adverse events (TEAEs), pharmacokinetic parameters.</P> <P><B>Results</B></P> <P>Overall, 272 patients received at least one olmutinib dose: dose-escalation (n = 66), expansion parts (n = 165), phase 2 (n = 41). In pooled phase 2, the overall objective response rate, confirmed by independent review, was 55.1% (38/69 evaluable patients; 95% CI, 42.6–67.1). All responses were partial responses; 23 patients had stable disease. Estimated median progression-free survival was 6.9 (95% CI, 5.6–9.7) months; estimated median overall survival was not reached. The most frequent treatment-related AEs were diarrhea (59.2% of patients), pruritus (42.1%), rash (40.8%), and nausea (39.5%).</P> <P><B>Conclusion</B></P> <P>Olmutinib showed effective clinical activity with a manageable safety profile, indicating therapeutic potential for T790M-positive NSCLC patients who have failed ≥ 1 previous line of EGFR-TKI therapy.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Olmutinib showed effective clinical activity. </LI> <LI> The safety profile of olmutinib was manageable. </LI> <LI> Olmutinib showed potential in T790M-positive NSCLC after failing ≥1 prior EGFR-TKI. </LI> </UL> </P>

      • 제2형 당뇨병 환자에서 발생한 자발적 안구마비 2예

        김기훈,최지훈,계영하,장근영,김지웅,김태현,김경희,박병현,형근영,조정구 대한당뇨병학회 2000 임상당뇨병 Vol.1 No.1

        Diabetics are predisposed to certain acute mononeuropathies, including a cranial neuropathy involving ocular motor nerves. Oculomotor nerve palsy is the most common cranial neuropathy in diabetes mellitus. Affection of several nerves in one eye can occur, rarely. Such as, the third and the sixth or the third and the fourth. The clinical characteristics of diabetes-associated ophathalmoplegia include abrupt onset, frequent occurrence of short-lived ipsilateral pain, sparing of pupillary reflex, resolution in most cases within a few months. Clinicopathological studies have suggested that diabetic ophathalomoplegia results from microvascular ischemia of an oculomotor nerve in its subarachnoid, cavernous segment or mid brain. Pupillary sparing is a single feature of diabetic third nerve palsy, and it has been widely used to distinguish diabetic oculomtor palsy from extrinsic compressive lesion of the third nerve, such as an aneurysm in the carotid siphon. No specific treatment is necessary. We experienced two cases of diabetic spontaneous ophthalmoplegia, one affected oculomotor nerve and the other affected partially oculomotor nerve and trochlear nerve, so we report these cases with review of the literatures.

      • KCI등재

        Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17

        Kim, Gu-Hwan,Chung, Sun Ju,Ryu, Ho-Sung,Kim, Jaemin,Lee, Jin-Joo,Choi, Seoung Hoon,Lee, Juyeon,Lee, Beom Hee,Choi, Jin-Ho,Yoo, Han-Wook Korean Society of Medical Genetics and Genomics 2015 대한의학유전학회지 Vol.12 No.1

        Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. Materials and Methods: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. Results: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, $24{\pm}4copies$) for SCA8, 7-18 copies (average, $13{\pm}3copies$) for SCA12, and 26-43 copies (average, $35{\pm}2copies$) for SCA17. Conclusion: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.

      • Millimeter-Scale Growth of Single-Oriented Graphene on a Palladium Silicide Amorphous Film

        Kim, Hyun-Woo,Song, Inkyung,Kim, Tae-Hoon,Ahn, Sung Joon,Shin, Ha-Chul,An, Byeong-Seon,Jang, Yamujin,Jeon, Sunam,Kim, Eun Hye,Khadka, Ishwor Bahadur,Gu, TaeJun,Woo, Sun-Hee,Whang, Dongmok,Kim, Youngku American Chemical Society 2019 ACS NANO Vol.13 No.2

        <P>It is widely accepted in condensed matter physics and material science communities that a single-oriented overlayer cannot be grown on an amorphous substrate because the disordered substrate randomizes the orientation of the seeds, leading to polycrystalline grains. In the case of two-dimensional materials such as graphene, the large-scale growth of single-oriented materials on an amorphous substrate has remained unsolved. Here, we demonstrate experimentally that the presence of uniformly oriented graphene seeds facilitates the growth of millimeter-scale single-oriented graphene with 3 × 4 mm<SUP>2</SUP> on palladium silicide, which is an amorphous thin film, where the uniformly oriented graphene seeds were epitaxially grown. The amorphous palladium silicide film promotes the growth of the single-oriented growth of graphene by causing carbon atoms to be diffusive and mobile within and on the substrate. In contrast to these results, without the uniformly oriented seeds, the amorphous substrate leads to the growth of polycrystalline graphene grains. This millimeter-scale single-oriented growth from uniformly oriented seeds can be applied to other amorphous substrates.</P> [FIG OMISSION]</BR>

      • Association between Wnt signaling pathway gene polymorphisms and bone response to hormone therapy in postmenopausal Korean women

        Kim, Hoon,Choe, Seung Ah,Ku, Seung Yup,Kim, Seok Hyun,Kim, Jung Gu The North American Menopause Society 2011 Menopause Vol.18 No.7

        OBJECTIVE:: The aim of this study was to explore the association between Wnt signaling pathway gene polymorphisms and response to hormone therapy (HT) as related to bone mineral density (BMD) in postmenopausal Korean women. METHODS:: The BMD and serum levels of osteoprotegerin, the soluble receptor activator of the nuclear factor &kgr;B ligand, and bone turnover markers were measured in 308 postmenopausal women receiving sequential estrogen + progestogen therapy. Results were analyzed according to the low-density lipoprotein receptor-related protein (LRP5) 5 c.266A > G, c.3893C > T, frizzled receptor 6 gene c.1033A > C, axin II c.148C > T, adenomatous polyposis coli c.5645T > A, and T-cell factor 1 c.766G > A polymorphisms. RESULTS:: The rates of 1-year changes in BMD and changes at 6 months in osteoprotegerin, soluble receptor activator of the nuclear factor &kgr;B ligand, and bone turnover markers after HT did not differ significantly between all single and haplotype genotypes of the genes studied. When a nonresponder was defined as a woman who had lost more than 3% of BMD per year after HT, women with T allele of the LRP5 c.3893C > T polymorphism showed a significantly higher risk of nonresponse at both the lumbar spine and femoral neck than did women with C allele. The risk of nonresponse at the lumbar spine was significantly higher in women with G allele of the LRP5 c.266A > G polymorphism than that in women with A allele, and the c.266G/c.3893T (GT) haplotype allele showed a similar trend. CONCLUSIONS:: The LRP5 c.266A > G and c.3893C > T polymorphisms may be associated with risk of nonresponse to HT in postmenopausal Korean women.

      • Genetic Diversity and Reassortment of Hantaan Virus Tripartite RNA Genomes in Nature, the Republic of Korea

        Kim, Jeong-Ah,Kim, Won-keun,No, Jin Sun,Lee, Seung-Ho,Lee, Sook-Young,Kim, Ji Hye,Kho, Jeong Hoon,Lee, Daesang,Song, Dong Hyun,Gu, Se Hun,Jeong, Seong Tae,Park, Man-Seong,Kim, Heung-Chul,Klein, Terry Public Library of Science 2016 PLoS neglected tropical diseases Vol.10 No.6

        <▼1><P><B>Background</B></P><P>Hantaan virus (HTNV), a negative sense tripartite RNA virus of the Family <I>Bunyaviridae</I>, is the most prevalent hantavirus in the Republic of Korea (ROK). It is the causative agent of Hemorrhagic Fever with Renal Syndrome (HFRS) in humans and maintained in the striped field mouse, <I>Apodemus agrarius</I>, the primary zoonotic host. Clinical HFRS cases have been reported commonly in HFRS-endemic areas of Gyeonggi province. Recently, the death of a member of the ROK military from Gangwon province due to HFRS prompted an investigation of the epidemiology and distribution of hantaviruses in Gangwon and Gyeonggi provinces that border the demilitarized zone separating North and South Korea.</P><P><B>Methodology and Principal Findings</B></P><P>To elucidate the geographic distribution and molecular diversity of HTNV, whole genome sequences of HTNV Large (L), Medium (M), and Small (S) segments were acquired from lung tissues of <I>A</I>. <I>agrarius</I> captured from 2003–2014. Consistent with the clinical incidence of HFRS established by the Korea Centers for Disease Control & Prevention (KCDC), the prevalence of HTNV in naturally infected mice in Gangwon province was lower than for Gyeonggi province. Whole genomic sequences of 34 HTNV strains were identified and a phylogenetic analysis showed geographic diversity of the virus in the limited areas. Reassortment analysis first suggested an occurrence of genetic exchange of HTNV genomes in nature, ROK.</P><P><B>Conclusion/Significance</B></P><P>This study is the first report to demonstrate the molecular prevalence of HTNV in Gangwon province. Whole genome sequencing of HTNV showed well-supported geographic lineages and the molecular diversity in the northern region of ROK due to a natural reassortment of HTNV genomes. These observations contribute to a better understanding of the genetic diversity and molecular evolution of hantaviruses. Also, the full-length of HTNV tripartite genomes will provide a database for phylogeographic analysis of spatial and temporal outbreaks of hantavirus infection.</P></▼1><▼2><P><B>Author Summary</B></P><P>Hemorrhagic Fever with Renal Syndrome (HFRS) and Hantavirus Pulmonary Syndrome (HPS) are endemic zoonotic infectious diseases caused by hantaviruses that belong to the Family <I>Bunyaviridae</I> containing negative-sense tripartite RNA genomes. Hantaviruses pose a critical emerging public health threat, with up to 200,000 clinical cases reported annually worldwide with 1–36% case fatality rates. In humans, hantavirus-borne diseases are contracted by the inhalation of viruses aerosolized from rodent excreta. However, there is no effective therapeutic or vaccine to prevent from the disease. Whole genome sequences of Hantaan virus (HTNV) were acquired from lung tissues of <I>Apodemus agrarius</I> captured in HFRS-endemic areas of the Republic of Korea (ROK). Phylogenetic analyses demonstrated that sequences of the HTNV tripartite genomes clustered geographically, showing broad diversity of HTNV throughout the areas surveyed. Reassortment analysis first suggested a natural occurrence of the HTNV genetic exchange in the ROK. These observations contribute to a better understanding of the genetic diversity and molecular evolution of hantaviruses in HFRS-endemic regions. The complete sequences of HTNV genomes will provide a database for the phylogeographic analysis and surveillance of endemic hantavirus-borne diseases.</P></▼2>

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