Macrostructure of sleep in patients with vascular cognitive impairment-no dementia / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the sleep structure in patients with vascular cognitive impairment-no dementia (VCI-ND) and its differences from that of normal individuals.</p><p><b>METHODS</b>The whole night sleep record of 20 patients with VCI-ND were monitored by 32-head video-taped polysomnographic system, and the results were compared with the data of 20 normal subjects.</p><p><b>RESULTS</b>Compared with normal subjects, patients with VCI-ND showed significantly reduced total sleep duration, increased waking times, increased stage 1 sleep, decreased stage 2 sleep, decreased stage 3 sleep, decreased rapid eye movement stage (REM) and reduced sleep efficiency.</p><p><b>CONCLUSION</b>Increased light sleep as well as decreased slow-wave stage 3-4 sleep and decreased REM stage may be a specific electroneurophysiologic marker for VCI-ND, but large-sampled multi-centered randomized controlled trial is necessary to test the validity of these features as specific markers for screening and early diagnostic purposes.</p>

Electromyogram Characteristics and Gene Diagnosis in Child Type of Spinal Muscular Atrophy / 实用儿科临床杂志

Objective To explore the importance of gene diagnosis and prenatal diagnosis of spinal muscular atrophy(SMA),and improve the clinical diagnosis of SMA by analyzing the electrophysiological and gene characteristics of SMA.Methods Fifteen cases with SMA including 9 male and 6 female were enrolled in this study.The age was 5 months to 12 years.The 15 cases were subdivided into 3 clinical types,5 cases of type Ⅰ including 3 male and 2 female aging 5-18 months;7 cases of type Ⅱ including 4 males and 3 females aging 5 months-3 years;3 cases of type Ⅲ including 2 male and 1 female aging 3-12 years.They were all characterized by symmetric muscle weakness(more proximal than distal)associated with atrophy,absence or marked decrease of deep tendon reflexes,loss of voluntary movement and inability to sit or stand.The clinical characteristics and changes of electromyography(EMG)and nerve conduction velocity were assessed in all cases by using Danish Medoc Keypoint myoelectricity and evoked potentials inducer.The survival of motor neuron(SMN)gene was detected by PCR and restriction endonuclease spectrum analysis in 10 cases.Results EMG analysis found 94% patients had spontaneous potential,90% patients had increased duration of motor unit,and amplitude increased in 89% patients.Motor nerve conduction velocity was determined in 78 nerves.Motor nerve compound action potential wave amplitude decreased in 52 nerves,among them,distal latent period prolonged and motor conduction velocity reduced slightly in 36 nerves.Sensory nerve conduction velocity was determined in 45 nerves and remained normal.The SMN gene detection revealed deletion of exon 7 and 8 in 9 cases,deletion exon 7 in 1 case.The SMN gene detection in 10 patients and their parents didn't find any deletion of exon 7 and 8.Conclusions The definite diagnosis of SMA will rely on the typical clinical characteristics,changes of EMG and gene deletion analysis.Gene diagnosis of SMA lays a basis for prenatal diagnosis.