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Your search keyword '"Rhie, Seonkyeong"' showing total 21 results
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21 results on '"Rhie, Seonkyeong"'

1. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Author

Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, and Eun, Baik-Lin

Published
2022
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7. eP239: Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development

Author

Seo, Go Hun, primary, Lee, Jungsul, additional, Han, Heonjong, additional, Cho, You Kyung, additional, Kim, Minji, additional, Choi, Yunha, additional, Rhie, Seonkyeong, additional, Kim, Yoo-Mi, additional, Cheon, Chong Kun, additional, Kim, Su Jin, additional, Lee, Jieun, additional, Kang, Eungu, additional, Yu, Hee Joon, additional, Shin, Young-Lim, additional, Byeon, Jung Hye, additional, Yum, Mi-Sun, additional, Lee, Beom Hee, additional, and Eun, Baik-Lin, additional

Published
2022
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17. My child cannot breathe while sleeping: a report of three cases and review.

Author

Won Hee Seo, Minkyu Park, So-Hee Eun, Seonkyeong Rhie, Dae Jin Song, Kyu-Young Chae, Seo, Won Hee, Park, Minkyu, Eun, So-Hee, Rhie, Seonkyeong, Song, Dae Jin, and Chae, Kyu-Young

Subjects
SLEEP disorders in children, BREATH holding, GASTROESOPHAGEAL reflux, FRONTAL lobe epilepsy, POLYSOMNOGRAPHY, DIFFERENTIAL diagnosis, ELECTROENCEPHALOGRAPHY
Abstract

Background: Sudden breath-holding episodes during sleep in young children are potentially related to sudden infant death syndrome and other life-threatening events. Additionally, these episodes can negatively affect child's growth and development.Case Presentation: Here, we present 3 cases of preschool children with similar paroxysmal nocturnal waking events associated with choking that had different etiologies (nocturnal frontal lobe epilepsy, nocturnal gastroesophageal reflux disease, and parasomnia, respectively).Conclusions: It is important to take into consideration the fact that breath spells during sleep can occur as a rare manifestation of parasomnia due to gastroesophageal reflux or as a symptom of nocturnal frontal lobe epilepsy. Full video electroencephalography, polysomnography, and simultaneous gastric pH monitoring should be used for the differential diagnosis of sleep-related disorders, such as breath spells, in children. [ABSTRACT FROM AUTHOR]

Published
2017
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21. Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report.

Author

Ko YJ, Rhie S, Baek J, Seo GH, and Lee SY

Subjects
Male, Humans, Aged, Middle Aged, Adult, Mutation, Missense, Kidney, Mutation, WT1 Proteins genetics, Glomerulosclerosis, Focal Segmental genetics, Kidney Failure, Chronic genetics
Abstract

Focal s egmental glomerulosclerosis (F SGS) can cause protei nuria and loss o f k idney fun ction, leading to e ndstage renal di s ease (ESRD). Podocyte injury is the ce ntral pathophysiologi cal mechanis m of hereditary FSGS. Numerous mutations in genes e ncoding or affe cting the transcriptional regulation of podocyte cell compar tments have been detected in patients with genetic FSGS. Herein, we report a rare case of familial FSGS with an autosomal dominant WT1 mutation. A 63-year- old man developed pro teinuri a; his reading showed over 1g prote in/day. A pa thological diagn osis of FSG S was made after rena l biops y. H is elder brother an d a 36-year- old son also had ESRD. Heterozygous variant of WT1 (NM_024426.4) c.1373G>A (p.Arg458Gln ) mi s sense was dete cted in the patient a nd his son , by whole-exome sequen cing. Although genetic screening is not a par t of routine practice, it s hould be per for med in such cases to a id a ppropriate tre atment options sel ecting, revealing extra ren al symptoms, and family planning.

Published
2024
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