A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

The Characteristics of Cognitive Impairment and Their Effects on Functional Outcome After Inpatient Rehabilitation in Subacute Stroke Patients

OBJECTIVE: To determine the frequency and characteristics of vascular cognitive impairment (VCI) in patients with subacute stroke who underwent inpatient rehabilitation and to analyze whether cognitive function can predict functional assessments after rehabilitation. METHODS: We retrospectively reviewed the medical records of patients who were admitted to our rehabilitation center after experiencing a stroke between October 2014 and September 2015. We analyzed the data from 104 patients who completed neuropsychological assessments within 3 months after onset of a stroke. RESULTS: Cognitive impairment was present in 86 out of 104 patients (82.6%). The most common impairment was in visuospatial function (65, 62.5%) followed by executive function (63, 60.5%), memory (62, 59.6%), and language function (34, 32.6%). Patients with impairment in the visuospatial and executive domains had poor scores of functional assessments at both admission and discharge (p<0.05). A multivariate analysis revealed that age (β=−0.173) and the scores on the modified Rankin Scale (β=−0.178), Korean version of the Modified Barthel Index (K-MBI) (β=0.489) at admission, and Trail-Making Test A (TMT-A) (β=0.228) were related to the final K-MBI score at discharge (adjusted R²=0.646). CONCLUSION: In our study, VCI was highly prevalent in patients with stroke. TMT-A scores were highly predictive of their final K-MBI score. Collectively, our results suggest that post-stroke executive dysfunction is a significant and independent predictor of functional outcome.

Effects of Enriched Environment on Locomotion and Cognition in Neonatal Rats with Hypoxic-Ischemic Encephalopathy

OBJECTIVE: To investigate the effect of environmental enrichment on the cognitive and motor development in the experimental hypoxia-ischemic encephalopathy neonatal rat model. METHOD: Hypoxic-ischemic encephalopathy models were made in neonatal Sprague-Dawley rats at 3 days of age by ligating the unilateral carotid artery followed by inhalation of 8% oxygen and raised in the enriched environment (n=10), treadmill exercise (n=8) and non-stimulation (n=10) from the 3rd to 8th weeks of age. Neurobehavioral and histopathological changes were compared. RESULTS: The neurobehavioral tests of the rats with hypoxic-ischemic encephalopathy showed prolonged latencies of achievement for cliff avoidance and negative geotaxis (p<0.05). Persisting abnormality into adult life of limb placing improved in exercise and enriched environment groups and spatial learning and memory in a water maze recovered in the rats with enriched environment (p<0.05). The density of dendritic spine increased in the hippocampus with enriched environment (p<0.05). CONCLUSION: The present study supports the possibilities of the positive effects after the enriched environment in the developing brain with hypoxic injury.

Visualization of Disc Degeneration: Comparison between Magnetic Resonance Imaging and Discography

OBJECTIVE: The purpose of this study was to investigate the influence of the muscle pain on the performance of motor coordination and muscular activities of upper limb according to the difficulty of activity and pain site. METHOD: Experimental muscle pain was induced by the injections of 5% hypertonic saline in the upper trapezius and extensor carpi radialis longus in 20 healthy volunteers respectively. Coordinative work of upper extremity was performed through the computer simulation games which were controlled by the motion of forearm pronation and supination using the steering handle. The performance scores were measured during the tasks requiring the relatively high level (driving mode) and low level (tracking mode) of coordination. Electromyographic activities were measured from the pronator teres and biceps rachii simultaneously. RESULTS: The performance scores were decreased after induction of muscle pain in the high coordinative task and their decreasing rate was higher in the distal muscle pain. There were no statistical differences of electromyographic activities according to the intensity and pain site and level of coordination. CONCLUSION: The upper limb coordination which required high speed and complex activities was decreased in the presence of the muscle pain.

Development and Assessment of Animal Model of Persistent Muscle Pain

OBJECTIVE: The purposes of this study were the development and assessment of an animal model of persistent muscle pain induced by repeated intramuscular injections of low pH buffered saline. METHOD: Buffered saline at pH 4, 6 or 7.2 were injected twice, 3 days apart, into the gastrocnemius muscles of thirty Sprague-Dawley rats. To quantify hyperalgesia, paw withdrawal response to von Frey filament (mechanical hyperalgesia) and acetone (cold hyperalgesia) were measured for the 4 weeks after injection. Also the locomotor performance with inclined plane board and treadmill, and electrophysiologic study were evaluated. RESULTS: Mechanical hyperalgesia that was produced by the single injection of saline lasted less than 24 hours. The repeated injection of acidic saline produced mechanical hyperalgesia for more than 4 weeks at injected side and 3 weeks at contralateral side. Cold hyperalgesia lasted for 1 week after injection bilaterally. The locomotor performance and nerve conduction studies were not changed after injection. CONCLUSION: We have developed and characterized a model of muscular pain that was long lasting and widespread. This might prove useful for studying pain of muscular origin that may be similar to the chronic pain syndromes observed clinically.