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        Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

        Anna Cho,Soo Yeon Kim,Jin Sook Lee,Byung Chan Lim,Hunmin Kim,Hee Hwang,Jong-Hee Chae 대한의학유전학회 2020 대한의학유전학회지 Vol.17 No.2

        Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

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        Engineering considerations of iPSC-based personalized medicine

        Sangbae Park,권용현,Shahidul Ahmed Khan,Kyoung‑Je Jang,김장호 한국생체재료학회 2023 생체재료학회지 Vol.27 No.00

        Personalized medicine aims to provide tailored medical treatment that considers the clinical, genetic, and environ‑ mental characteristics of patients. iPSCs have attracted considerable attention in the feld of personalized medicine; however, the inherent limitations of iPSCs prevent their widespread use in clinical applications. That is, it would be important to develop notable engineering strategies to overcome the current limitations of iPSCs. Such engineering approaches could lead to signifcant advances in iPSC-based personalized therapy by ofering innovative solutions to existing challenges, from iPSC preparation to clinical applications. In this review, we summarize how engineering strategies have been used to advance iPSC-based personalized medicine by categorizing the development process into three distinctive steps: 1) the production of therapeutic iPSCs; 2) engineering of therapeutic iPSCs; and 3) clinical applications of engineered iPSCs. Specifcally, we focus on engineering strategies and their implications for each step in the development of iPSC-based personalized medicine.

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