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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., Methods: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness. Clinical, laboratory, and neuroimaging data were analyzed., Results: Fourteen newborns were diagnosed with GA-1 (incidence: 1/106,474). C5DC concentration was clearly increased after carnitine loading in the affected newborns, but not in false-positive newborns (p = 0.004), indicating that this test is useful as an adjuvant diagnostic method. Eleven patients followed in our hospital were enrolled, namely nine NBS patients and two patients diagnosed clinically. IVS10-2A>C was the most common mutation. Two novel mutations (T36fs and N291K) were identified. Pendular nystagmus was found in two pediatric GA-1 patients. The corresponding pathology was optic atrophy in one patient, but remained undetermined in the other patient. The frequency of encephalopathic crisis decreased substantially following NBS. Among patients diagnosed by NBS, cognitive functioning was better among patients with good compliance than patients with poor compliance (p = 0.03). Abnormalities were detected by brain MRI including diffusion-weighted imaging and apparent diffusion coefficient maps; these affected various brain regions at different stages of the disease. Basal ganglion injuries occurred after an encephalopathic crisis. White matter disease was prevalent among older patients, either with or without an encephalopathic crisis., Conclusion: Early diagnosis by newborn screening followed by full compliance with treatment guidelines is important to a good outcome., (Copyright © 2017. Published by Elsevier Taiwan LLC.)

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. If the response of the upper extremity muscle is affected by pillow size preference, this would aid in devising an alternate strategy for selecting the optimal pillow size., Methods: Twenty-nine healthy individuals (mean age: 28.6 years, range: 24-55 years) participated in this study. The participants performed isometric maximal finger extension in the supine position with their heads supported on four different size preferences of cervical pillow (the most comfortable, next most comfortable, worst, and next worst). Maximal contraction force and peak-to-peak EMG amplitude of the extensor digitorum communis (EDC) during contraction were measured. One-way repeated-measures analysis of variance was used to evaluate the effect of pillow size preference. We also explored the relationship between anthropometric parameters and the individual's cervical pillow height preference., Results: The two most comfortable pillows were associated with significantly larger maximal EDC force than the two worst pillows. However, no significant differences in EMG were observed between pillows. No statistically significant correlation was found between anthropometric parameters and pillow height preference., Conclusion: The results suggest that anatomical body measurements are not good predictors of optimal pillow height. As EDC muscle strength is affected by pillow height preference, maximal EDC muscle strength may be a useful complement for selecting the optimal pillow size., (Copyright © 2014. Published by Elsevier Taiwan.)

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. The motor unit potentials were recorded during various percentages of maximal voluntary muscle contraction (MVC) by automatic decomposition electromyography., Results: The pianists demonstrated a significantly higher firing rate, shorter duration, and higher amplitude of motor unit potentials during minimal muscle contractions than the sedentary controls. But when comparing all the parameters at other degrees of contractions, the pianists were found to have significantly higher firing rate only at 25% and 50% of MVC, and higher amplitude at maximal contraction than the control group. The amplitude at maximal control contraction was higher in pianists than in controls., Conclusion: These results imply that high-frequency and highly efficient muscle fibers are recruited in pianists when minimal muscle contractions are performed, which also indicate that by using smaller motor units, pianists may delicately control their fine motor performance.

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. The trigger factors include carpal tunnel release, Dupuytren's repair, tendon release procedures, knee surgery, crush injury, ankle arthrodesis, amputation, and hip arthroplasty. Rarely, it has been associated with stroke, mastectomy, pregnancy, and osteogenesis imperfecta. Herein, we present a rare case of a patient who was diagnosed with CRPS after transradial cardiac catheterization. CRPS was first diagnosed due to hand swelling, allodynia, paresthesia, and the limited range of motion of interphalangeal, metacarpophalangeal, and wrist joints, with the preceding factor of transradial cardiac catheterization, and was then confirmed by a three-phase bone scan. After intensive physical therapy with hydrotherapy, manual soft tissue release, and occupational therapy for the hand function, there was much improvement in range of motion and hand function. There was no allodynia or painful sensation in the follow-up. After training, the functional status of this patient was adequate for daily activity.