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dc.contributor.authorWu, En-Tingen_US
dc.contributor.authorHwu, Wuh-Liangen_US
dc.contributor.authorChien, Yin-Hsiuen_US
dc.contributor.authorHsu, Chingen_US
dc.contributor.authorChen, Ting-Fuen_US
dc.contributor.authorChen, Nai-Qien_US
dc.contributor.authorChou, Hung-Chiehen_US
dc.contributor.authorTsao, Po-Nienen_US
dc.contributor.authorFan, Pi-Chuanen_US
dc.contributor.authorTsai, I-Jungen_US
dc.contributor.authorLin, Shuan-Peien_US
dc.contributor.authorHsieh, Wu-Shiunen_US
dc.contributor.authorChang, Tung-Mingen_US
dc.contributor.authorChen, Chi-Nienen_US
dc.contributor.authorLee, Chen-Haoen_US
dc.contributor.authorChou, Yen-Yinen_US
dc.contributor.authorChiu, Pao-Chinen_US
dc.contributor.authorTsai, Wen-Huien_US
dc.contributor.authorHsiung, Hann-Changen_US
dc.contributor.authorLai, Feipeien_US
dc.contributor.authorLee, Ni-Chungen_US
dc.date.accessioned2019-12-13T01:12:23Z-
dc.date.available2019-12-13T01:12:23Z-
dc.date.issued2019-11-01en_US
dc.identifier.issn1529-7535en_US
dc.identifier.urihttp://dx.doi.org/10.1097/PCC.0000000000002068en_US
dc.identifier.urihttp://hdl.handle.net/11536/153234-
dc.description.abstractObjectives: Critical illnesses caused by undiagnosed genetic conditions are challenging in PICUs. Whole-exome sequencing is a powerful diagnostic tool but usually costly and often fail to arrive at a final diagnosis in a short period. We assessed the feasibility of our whole-exome sequencing as a tool to improve the efficacy of rare diseases diagnosis for pediatric patients with severe illness. Design: Observational analysis. Method: We employed a fast but standard whole-exome sequencing platform together with text mining-assisted variant prioritization in PICU setting over a 1-year period. Setting: A tertiary referral Children's Hospital in Taiwan. Patients: Critically ill PICU patients suspected of having a genetic disease and newborns who were suspected of having a serious genetic disease after newborn screening were enrolled. Interventions: None. Measurements and Main Results: Around 50,000 to 100,000 variants were obtained for each of the 40 patients in 5 days after blood sampling. Eleven patients were immediately found be affected by previously reported mutations after searching mutation databases. Another seven patients had a diagnosis among the top five in a list ranked by text mining. As a whole, 21 patients (52.5%) obtained a diagnosis in 6.2 +/- 1.1 working days (range, 4.3-9 d). Most of the diagnoses were first recognized in Taiwan. Specific medications were recommended for 10 patients (10/21, 47.6%), transplantation was advised for five, and hospice care was suggested for two patients. Overall, clinical management was altered in time for 81.0% of patients who had a molecular diagnosis. Conclusions: The current whole-exome sequencing algorithm, balanced in cost and speed, uncovers genetic conditions in infants and children in PICU, which helps their managements in time and promotes better utilization of PICU resources.en_US
dc.language.isoen_USen_US
dc.subjectgeneticen_US
dc.subjectpediatric intensive care uniten_US
dc.subjectwhole exome sequenceen_US
dc.titleCritical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*en_US
dc.typeArticleen_US
dc.identifier.doi10.1097/PCC.0000000000002068en_US
dc.identifier.journalPEDIATRIC CRITICAL CARE MEDICINEen_US
dc.citation.volume20en_US
dc.citation.issue11en_US
dc.citation.spage1021en_US
dc.citation.epage1026en_US
dc.contributor.department生醫工程研究所zh_TW
dc.contributor.departmentInstitute of Biomedical Engineeringen_US
dc.identifier.wosnumberWOS:000494714100005en_US
dc.citation.woscount1en_US
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