No abstract

Background Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016. Results During the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 ( n = 26), 1 cobalamin B was detected and that for PA cases ( n = 4) was 1/788,816. The time of referral is 8.8 days for MMA patients, and 7.5 days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH 3 values as well as a lower pH value ( p < 0.05). The mean age for liver transplantation (LT) is 402 days (range from 0.6–6.7 yr) with 16 out of 20 cases (80.0%) using living donors. The mean admission length shortened from 90.6 days/year (pre-LT) to 5.3 days/year (at 3rd year post-LT) ( p < 0.0005). Similarly, the tube feeding ratio decreased from 67.8 to 0.50% ( p < 0.00005). The anxiety level of the caregiver was reduced from 33.4 to 27.2 after LT ( p = 0.001) and the DQ/IQ performance of the patients was improved after LT from 50 to 60.1 ( p = 0.07). Conclusion MMA/PA patients with LT do survive and have reduced admission time, reduced tube feeding and the caregiver is less anxious.

BackgroundLoss of upper-extremity motor function is one of the most debilitating deficits following stroke. Two promising treatment approaches, action observation therapy (AOT) and mirror therapy (MT), aim to enhance motor learning and promote neural reorganization in patients through different afferent inputs and patterns of visual feedback. Both approaches involve different patterns of motor observation, imitation, and execution but share some similar neural bases of the mirror neuron system. AOT and MT used in stroke rehabilitation may confer differential benefits and neural activities that remain to be determined. This clinical trial aims to investigate and compare treatment effects and neural activity changes of AOT and MT with those of the control intervention in patients with subacute stroke.Methods/designAn estimated total of 90 patients with subacute stroke will be recruited for this study. All participants will be randomly assigned to receive AOT, MT, or control intervention for a 3-week training period (15 sessions). Outcome measurements will be taken at baseline, immediately after treatment, and at the 3-month follow-up. For the magnetoencephalography (MEG) study, we anticipate that we will recruit 12 to 15 patients per group. The primary outcome will be the Fugl-Meyer Assessment score. Secondary outcomes will include the modified Rankin Scale, the Box and Block Test, the ABILHAND questionnaire, the Questionnaire Upon Mental Imagery, the Functional Independence Measure, activity monitors, the Stroke Impact Scale version 3.0, and MEG signals.DiscussionThis clinical trial will provide scientific evidence of treatment effects on motor, functional outcomes, and neural activity mechanisms after AOT and MT in patients with subacute stroke. Further application and use of AOT and MT may include telerehabilitation or home-based rehabilitation through web-based or video teaching.Trial registrationClinicalTrials.gov, ID: NCT02871700. Registered on 1 August 2016.Electronic supplementary materialThe online version of this article (doi:10.1186/s13063-017-2205-z) contains supplementary material, which is available to authorized users.

Children and adolescents with MMC have reduced HRQL compared with those with LMMC. Children and adolescents with more associated medical problems have the greatest risk of diminished physical and psychosocial well-being.