Schwartz-Jampel syndrome is a rare autosomal recessive disorder characterized by clinical myotonia, persistent spontaneous activity, and skeletal dysplasia (short stature, pigeon breast, micrognathia etc.). We experienced an eleven- year-old girl complaining of gait disturbance and motor weakness of both legs. She was operated for umblical hernia at the age of two and for congenital hip dislocation at the age of six. She displayed short stature, short neck, microstomia, micrognathia, pigeon breast, and calf muscle hypertrophy. Her muscle strength was fair to good grade in both legs. Percussion- and exercise-induced myotonia was observed. Her cognitive function was below-average intelligence. Serum creatine kinase was elevated three to four times of normal level. Routine motor and sensory conduction studies were normal and continuous electrical myotonic discharges were detected in all examined muscles. Clinically, her symptom was non-progressive for three years.
Breast ; Columbidae ; Creatine Kinase ; Female ; Gait ; Hernia ; Hip Dislocation, Congenital ; Humans ; Hypertrophy ; Intelligence ; Leg ; Microstomia ; Muscle Strength ; Muscles ; Myotonia ; Neck ; Osteochondrodysplasias*

It is well known that the brain-injured patients with tracheostomy is prone to frequent tracheopulmonary aspiration and dysphagia problems. We experienced two brain-injured patients with dysphagia, who revealed the improvement of clinical and videofluoroscopic parameters after application of Passy-Muir speaking valve (PMV 2000(R), Passy-Muir Inc., USA). Two brain-injured patients had kept on nasogastiric and tracheostomy tubes. After PMV application for 2 weeks, the frequency of aspiration decreased, sleep hygiene and emotional lability improved, and also videofluoroscopic parameters such as pharyngeal delay time, pharyngeal transit time, and epiglottic closure were improved. Eventually, they could be free from tracheostomy tubes within 1 month after PMV application.
Brain Injuries ; Deglutition Disorders* ; Humans ; Hygiene ; Tracheostomy

OBJECTIVE: To investigate the function of sympathetic nervous system in patients with first-ever unilateral stroke by measuring hand sympathetic skin response (SSR) and the relationship between sympathetic dysfunction and motor function. METHOD: Eighteen patients with first-ever unilateral stroke and eighteen normal controls were recruited. The differences of hand SSR amplitude and latency between affected and unaffected side were investigated. Motor function was classified according to the Brunnstrom stage and activities of daily living were evaluated by modified Barthel Index (MBI) and Functional Independence Measure (FIM). Orthoestatic hypotension (OH) was evaluated and graded. RESULTS: The difference of the amplitude of hand SSR between affected and unaffected side was increased in stroke patient group (p<0.05). There was significant correlation between Brunnstrom stage and the difference of hand SSR amplitude (p<0.05). There were significant correlations between MBI, FIM and the difference of hand SSR amplitude (p<0.05). There was significant correlation between OH and the difference of hand SSR amplitude (p<0.05). CONCLUSION: Evaluation of hand SSR could be useful methods to evaluate central autonomic dysfunction and motor dysfunction.
Activities of Daily Living ; Hand ; Humans ; Hypotension ; Skin ; Stroke* ; Sympathetic Nervous System*

OBJECTIVE: To investigate the characteristics of the central neuropathic pain (CNP) after contusive spinal cord injury in rats. METHOD: Twenty Sprague-Dawley rats (300+/-50 g, male) undergone the free-drop contusion injury from the drop-height of 2.5 cm at T10 cord (n=20) and ten rats undergone sham operation (n=10) were subjected to the neurobehavioral analyses by the Basso Beattie Bresnahan (BBB) locomotor rating scales, Touch test(TM) sensory evaluator (TTSE, North Coast Medical Inc., Canada) and Plantar test(R)(Ugo Basile, Italy) after contusion at the 1(st), 3(rd), 5(th), 7(th), 14(th), 21(st) and 28(th) day. RESULTS: The scores of BBB scales were the lowest at the 1st day and then slowly increased to spontaneous recovery state, but they were significantly lower than those of control group (p<0.05). The thresholds of mechanical allodynia were significantly increased just after cord contusion, but progressed to decline, and significantly decreased after the 21(st) day (p<0.05). The latencies of thermal hyperalgesia were delayed just after cord contusion, but significantly shorter than those of the control group after the 7(th) day (p<0.05). CONCLUSION: These results would be helpful for the study of the CNP after contusive spinal cord injury in rats.
Animals ; Contusions ; Hyperalgesia ; Neuralgia* ; Ocimum basilicum ; Rats* ; Rats, Sprague-Dawley ; Spinal Cord Injuries* ; Spinal Cord* ; Weights and Measures