Diagnosis of Muscular Dystrophy Using Western Blot with Micro-sample of Muscle / 中国医学科学院学报

<p><b>OBJECTIVE</b>To diagnose muscular dystrophy using Western blot (WB) by improving the method of the protein extraction.</p><p><b>METHOD</b>Firstly,we compared the effect of different sample buffer solutions and processing Methods on the extraction of muscle protein in rats,then selected the appropriate extracting method and the process of the muscular protein.</p><p><b>RESULTS</b>We put the selected sample buffer into the micro-sample,then mixed. The concentration of the extracting protein was much more,and the loss during the process was much less. We extracted enough protein in 62 cases. The protein bands were showed clearly by WB,and the abnormal protein bands were shown in some patients. Compared with the Results of immunohistochemical staining detected the severe abnormal expressions of Dys-R,Dys-C,and Dys-N in the specimens,we did not detect the corresponding target band in WB. We detected the target protein band of the specimens were abnormal position,light or normal staining in WB,while Dys were mildly expressed in immunohistochemical staining.</p><p><b>CONCLUSIONS</b>The improved protein extraction method can save the muscle tissue,and the protein bands can be used for diagnosing the muscular dystrophy. For clinically suspected patients with dystrophinopathy,if normal or mild deficiency is shown by immunohistochemistry,WB should be applied to detect the dystrophin protein band.</p>

Primary agiitis of central nervous system / 中国医学科学院学报

The common clinical manifestations of the primary agiitis of the central nervous system include burst of headache, dementia, change of aptitude, paralysis of cranial nerves, and recurrent focal depletion of the neural function. Lptomeningeal and brain biopsy are still the gold criteria for diagnosis. The prognosis may be improved after cortin and immunosuppressant therapy.

Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To study the characteristics of spectra on proton magnetic resonance spectroscopy (1H-MRS) and its value in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).</p><p><b>METHODS</b>Seven clinically diagnosed patients with MELAS underwent magnetic resonance imaging (MRI) and 1H-MRS examinations. The 1H-MRS techniques, characteristics of the spectra, and its correlation with the laboratory tests were analyzed.</p><p><b>RESULTS</b>Cerebral abnormalities were revealed in all 7 patients on conventional MR images, and most abnormal signals were observed in bilateral occipital, parietal, and temporal lobes. We found 4 cases with basal ganglia involvement, 2 cases with mild frontal lobe lesions, and 1 case with involvement of lateral cerebral peduncles and thalami. Additionally, 1 patient was involved with left insular lobe. Spectra from prominent lesions in brain parenchyma showed lactate doublet peak in 6 patients, 3 of whom were also noted lactate peak in ventricular cerebrospinal fluid (CSF).</p><p><b>CONCLUSION</b>1H-MRS may provide more direct information about the metabolism changes, which aids to affirm the diagnosis, and may replace the conventional invasive method of quantifying lactate in CSF.</p>

Auxiliary diagnosis of aerobic forearm exercise in mitochondriai myopathy and encephalopathy / 中华神经科杂志

Objective To investigate blood gas analysis and lactic acid evaluation in aerobic forearm exercise and the significance of aerobic forearm exercise for the auxiliary diagnosis of mitochondrial myopathy and encephalopathy patients.Methods Forty-two patients with mitochondrial myopathy and encephalopathy patients, 40 healthy control, and 40 patients control were studied.They performed a protocol under aerobic exercise conditions, consisting of intermittent forearm exercise for 4 minutes at 40% of intented maximal voluntary contraction force.Blood samples were collected to monitor blood gas and plasma lactate before, during arid after exercise.Results During exercise venous PO_2(mm Hg, 1 mm Hg=0.133 kPa)decreased in mitochondrial myopathy and encephalopathy patients from 41.2?12.6 to 39.5?16.2, whereas PO_2 fell from 50.5?14.4 to 30.8?13.1 in healthy control and from 50.1?7.9 to 44.3?35.5 in patient control.Venous PO_2 decreased much more in healthy control group than the other 2 groups(F= 6.34,P

Cloning, expression and purification of neural specific HuD cDNA / 中国医学科学院学报

<p><b>OBJECTIVE</b>To prokaryoticly express and purify HuD protein and its RNA recognition motifs.</p><p><b>METHODS</b>HuD protein was prokaryoticly expressed and purified by molecular cloning technology. Its biologic activity was testified by Western Blot.</p><p><b>RESULTS</b>Purified HuD protein and its RNA recognized motifs were observed.</p><p><b>CONCLUSIONS</b>The result might aid for basic research and clinical application.</p>

Clinicopathological observation On two sensory,neuronopathy cases / 中华神经科杂志

Objective To determine the clinical features,neurophysiological characteristics and cervical magnetic resonance imaging of sensory neumnopathy,and to describe the pathology of skin nerve, sural nerve and spinal dorsal columns.Methods Two patients who died from sensory neuron disease (SND)after infection of digestive tract were discussed including clinical features and ancillary tests which included neurophysiology and pathology of peripheral nerve and spinal dorsal columns.Associated documents are reviewed.Results Early ataxia,widespread sensory symptoms and global loss of deep tendon reflex were the distinctive signs of SND,which was characterized by non-length-dependent abnormalities of sensory nerve action potentials,a hallmark of ganglionopathies.The second patient showed normal cervical magnetic resonance imaging possibly because of short course of disease,while diffuse hyperintensity in the spinal posterior columns of SND was reported.Demyelination of spinal posterior columns and loss of mostly large diameter nerve fibers without regeneration clusters were the main pathological features.Conclusions The distinctive clinical features and neurophysiological characteristics of SND indicate that peripheral sensory nerve fibers are widely damaged.Pathology of spinal posterior columns confirm that central sensory pathway are impaired which allow the localization of the pathologic site to the dorsal root ganglion neurons.Cervical spinal MRI of SND are possibly normal at early phase.