Browsing by Author "Chiu, Pao-Chin"

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Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*
(2019-11-01)
Wu, En-Ting
;
Hwu, Wuh-Liang
;
Chien, Yin-Hsiu
;
Hsu, Ching
;
Chen, Ting-Fu
Objectives: 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.
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile -onset Pompe disease: Evidence from real -world experiences
(2020-06-01)
Chien, Yin-Hsiu
;
Tsai, Wen-Hui
;
Chang, Chaw-Liang
;
Chiu, Pao-Chin
;
Chou, Yen-Yin
Functional independence of Taiwanese patients with mucopolysaccharidoses
(2019-08-01)
Lee, Chung-Lin
;
Lin, Hsiang-Yu
;
Chuang, Chih-Kuang
;
Chiu, Huei-Ching
;
Tu, Ru-Yi
Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for Children (WeeFIM) questionnaire to assess the functional skills of 63 Taiwanese MPS patients (median age, 13 years 3 months; range, 3-20 years) from January 2012 to December 2018. Results Mean total WeeFIM score was 75.4 of a potential score of 126. Mean total WeeFIM scores of each type (MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI) were 103.8, 76.2, 41.6, 92.2, and 113.6, respectively. Mean scores for self-care, mobility, and cognition domains were 30 (maximum 56), 23 (maximum 35), and 22 (maximum 35), respectively. MPS type IIIB patients had the lowest scores in self-care, mobility, cognition, and total domains compared to other types of MPS. All patients with ERT in MPS I, II, and IVA had higher scores in self-care and mobility domains than patients without ERT. Most patients required assistance for self-care skills, especially in grooming and bathing. Conclusion MPS patients require support and supervision in self-care tasks. For cognition tasks, MPS IIIB patients also require help. This questionnaire is useful to identify the strengths and limitations of MPS patients.