• 제목/요약/키워드: 가톨릭대학교

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GNAS 메틸화 이상으로 인한 거짓부갑상선기능저하증 Ib 1예 (A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus)

  • 조성진;한은희;장우리;채효진;김용구;이건동;조원경;서병규;김명신
    • Laboratory Medicine Online
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    • 제7권2호
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    • pp.83-87
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    • 2017

  • Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein ($Gs{\alpha}$). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.

  • https://doi.org/10.3343/lmo.2017.7.2.83 인용

다기관 임상연구에 대한 공동 Institutional Review Board (IRB)와 개별 기관 IRB 초기 심사 효율성 비교 (Comparison of the Initial Review Efficiency of Joint Institutional Review Board and Local Institutional Review Board for Multicenter Clinical Research)

  • 최선;신선혜;함희영;권주아;박주희;양동원;임현우
    • 대한기관윤리심의기구협의회지
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    • 제6권2호
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    • pp.38-47
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    • 2024

  • Purpose: The purpose of this study is to compare the efficiency of 2 types of Institutional Review Boards (IRBs) for multicenter research. Methods: The 2 types are joint IRB and local IRB. For this study, we selected multicenter research reviewed and approved by joint or local IRBs between October 2019 and December 2022. We assessed the time it took for each IRB to approve the research based on the number of working days per IRB review case. We then stratified the data according to the number of participating institutions, the type of research, and the type of IRB review. Results: The results of our study show that joint IRB is more efficient than local IRB. The median IRB approval time for joint IRB was 27 days, 73.5% shorter than local IRB (27 days vs. 102 days, respectively, p<0.001). As the number of participating institutions in multicenter research increased, joint IRB reviews became more efficient regarding the required approval time than local IRB reviews. We also found that joint IRB was faster in every administrative step until new research was approved (p<0.005) when compared to local IRB. Conclusion: Our study highlights that a single review through a joint IRB can significantly reduce the time required for IRB approval of multicenter research. This approach can ensure that all participating institutions follow the same review results. Therefore, a single IRB review effectively reduces the burden of IRB for multicenter research.

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Ozonides from the Ozonolyses of Indene

  • 이강렬;이치원;허태성
    • Bulletin of the Korean Chemical Society
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    • 제20권12호
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    • pp.1437-1440
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    • 1999

  • Ozonolysis reactions of indene 5 in the presence of carbonyl compounds 6 provided the corresponding indenemonoozonide 9 and cross-ozonides 10a-c and 11a-c. Further reactions of ozonides 10 and 11 with the independently prepared carbonyl oxide 13 gave diozonides of structure 14a-c and 15a-c.

  • https://doi.org/10.5012/bkcs.1999.20.12.1437 인용 PDF