Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

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.

Effects of action observation therapy and mirror therapy after stroke on rehabilitation outcomes and neural mechanisms by MEG: study protocol for a randomized controlled trial.

Background: Loss 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.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

Background: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date.

Longitudinal changes in health-related quality of life in preschool children with cerebral palsy of different levels of motor severity.

Background: When setting goals for cerebral palsy (CP) interventions, health-related quality of life (HRQoL) is an important outcome.

Aims: To compare longitudinal changes in HRQoL in children with CP of different levels of motor severity.

Methods And Procedures: Seventy-three children with CP were collected and classified into three groups based on Gross Motor Function Classification System (GMFCS) levels.

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria.

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

Objective: To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies.

Methods: In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital.

Localization of the cricothyroid muscle under ultrasound guidance for vagal nerve mapping.

During surgical removal of tumors of the skull base or cerebellopontine angle with brainstem compression, the vagus nerve is at a high risk for injury that can result in permanent or transient swallowing and speech dysfunction. Intramuscular recording of cricothyroid muscle can be used for vagal nerve mapping during intraoperative neurophysiologic monitoring so as to prevent the above complications. However, it is a small muscle that lies beneath the strap muscles over the anterior neck and is not easily accessible by a blind approach.

Effect of pillow size preference on extensor digitorum communis muscle strength and electromyographic activity during maximal contraction in healthy individuals: a pilot study.

Background: Cervical pillow height is an important factor that affects the perception of pillow comfort. However, few studies have addressed methods for predicting a patient's preferred cervical pillow size. We studied the effect of pillow size preference on the strength and electromyographic (EMG) signals of the upper extremity muscle.

Corticospinal integrity and motor impairment predict outcomes after excitatory repetitive transcranial magnetic stimulation: a preliminary study.

Objective: To identify the effective predictors for therapeutic outcomes based on intermittent theta-burst stimulation (iTBS).

Design: A sham-controlled, double-blind parallel study design.

Setting: A tertiary hospital.

Pediatric aquatic therapy on motor function and enjoyment in children diagnosed with cerebral palsy of various motor severities.

This study investigates the effects of pediatric aquatic therapy on motor function, enjoyment, activities of daily living, and health-related quality of life for children with spastic cerebral palsy of various motor severities. Children with spastic cerebral palsy were assigned to a pediatric aquatic therapy group (n = 11; mean age = 85.0 ± 33.

Intraoperative brain mapping to identify corticospinal projections during resective epilepsy surgery in children with congenital hemiparesis.

Purpose: The purpose of the study is to determine corticospinal organization using intraoperative neurophysiologic monitoring (IONM) during resective epilepsy surgery for patients with congenital hemiparesis and intractable epilepsy.

Methods: Ten patients, aged 3-17, with intractable epilepsy underwent resective surgery. Transcranial stimulation (TCS) was achieved using a pair of cork screws at Cz and C3/C4, respectively.

A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.

The aim of this study was to: (a) analyze the results of a large-scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile-onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In this study, 402,281 newborns were screened for Pompe disease from January 1, 2008 to May 1, 2012. Infants with low acid α-glucosidase (GAA) activity were referred to Taipei Veterans General Hospital for diagnostic confirmation.

Health-related quality of life in children and adolescents with spinal dysraphism: results from a Taiwanese sample.

Purpose: This study was designed to investigate health-related quality of life (HRQL) in children and adolescents with spinal dysraphism and to determine the differences between the myelomeningocele (MMC) and lipomyelomeningocele (LMMC) groups.

Methods: Thirty-two patients (mean age, 13.2 years) with MMC and 28 patients (mean age, 11.

Ultrasound-guided refilling of an intrathecal baclofen pump--a case report.

Introduction: Refilling intrathecal baclofen (ITB) pumps can be difficult because many patients gain excessive weight after implantation due to their reduced expenditure of energy on muscle spasticity.

Methods: We report a case of a 12-year-old girl with spastic quadriplegia who gained 20 lbs after pump implantation. It was necessary to identify the access port of her pump by ultrasonography during drug refilling so as to avoid multiple needle punctures.

EMG changes during graded isometric exercise in pianists: comparison with non-musicians.

Background: Long-term piano training might induce some biochemical and structural adaptations in the intrinsic muscles of the hand or change the motor strategy of the nervous system. The main purpose of this study was to analyze whether the intrinsic muscles of the hands of pianists and sedentary controls differ in electromyographic characteristics at different strengths.

Methods: Fifteen college piano students and 15 sedentary controls were asked to sit on an examination bench and perform first dorsal interosseous muscle contractions for 1 minute.

Complex regional pain syndrome after transradial cardiac catheterization.

Complex regional pain syndrome (CRPS) is a disease with unclear pathophysiology. The condition is characterized by pain, soft tissue change, vasomotor change, and even psychosocial disturbance. It may affect the upper more than the lower extremities, and the distal more than the proximal.