Objective To evaluate the significance of molecular microenvironment in neurons for the nerve regeneration and repair by investigating the dynamic changes of nerve regrowth-associated proteins following bilateral sciatic nerves crush in pyridoxine-induced ganglionopathy rats model.Methods Bilateral sciatic nerve crush were performed 4 weeks after induction of pyridoxine-induced ganglionopathy. The changes of mean percentage of TUNEL positive cells in dorsal root ganglion (DRG) following bilateral sciatic nerves crush for 7 days, 14 days, 21 days, and 28 days. Western blotting techniques were used to investigate the expression of GAP-43 and trk A in different duration following sciatic nerve crush injury.Results The percentage of TUNEL positive neurons in DRG significantly increased in early stage and markedly decreased in 21～28 days after sciatic nerve crush. The expression of GAP-43 and trk A in DRG were upregulated at all time point after nerve injury in pyridoxine-induced ganglionopathy, but the overall level was lower than that of pure nerve crush injury.Conclusion In pyridoxine-induced ganglionopathy, neurons in DRG undergo survival crisis, the gene expression system was disintegrated, the capacity to regenerate their axons declines after nerve injury.

Objective To explore the clinical and electrophysiological characteristics of diabetic lumbosacral radiculoplexus neuropathy (DLRPN). Methods The clinical, electrophysiological and neuroimaging changes in 15 cases of DLRPN were investigated. Results The major clinical manifestations of 13 cases were unilateral or asymmetrical pain and progressive muscular weakness and atrophy of the proximal lower limb. The nerve conduction studies in affected nerves showed absent or reduced compound muscle action potential amplitudes and sensory responses with proportionate slowing of the conduction velocities. F waves and H reflexes were of long latencies or absent. Electromyography of affected muscles showed positive sharp waves and fibrillation potentials involving lumbar paraspinal muscles. Assessment of the motor unit action potentials (MUAPs) revealed high amplitude, long duration, and polyphasic MUAPs with reduced recruitment 50% cases have much lower R-R interval variation. Conclusions DLRPN presents disabling pain and muscular weakness and elctrophysiological examination has a paramount value in the diagnosis and evaluation of this disease

Neuromuscular diseases is one of the difficulties in neurology teaching and clinical practice. We chose the typical cases of Guillain-Barre syndrome and progressive muscular dystrophy as case based study, and evaluated the effect of teaching. The result shows that application of case base study can help medical students to enhance their learning interests and cultivate their good clinical thinking and then to meet the requirements of the teaching syllabus. So it is worth improving and promoting in clinical practice teaching.

Objective To explore the characteristic of the expression of Ref 1 protein in different intervals following permanent focal cerebral ischemia in rats. Methods The model of the middle cerebral artery occlusion (MCAO) in rats was performed with the intraluminal filament occlusion The rat brains were cut in the coronal planes at the levels of the caudate putamen as the templates The immunohistochemistry staining was used to facilitate the observation of the distribution and quantities of Ref 1 protein expression in the brain tissues following the normal control group,sham operation group and the permanent MCAO group with intervals of 1, 6, 12, 24 h, and 48 h, respectively. Results Immunohistochemistry showed the nuclear expression of Ref 1 protein in the normal control group, sham operation group and left cerebral hemisphere. In the ischemic group, there was no immunoreactivity of Ref 1 protein in the core of infarction, and nuclear immunoreactivity of Ref 1 protein was decreased along with the extension of ischemic time in the penumbra. The difference among those groups was significant ( P

AIM: To explore the mechanism of neuronal injury and repair by investigating the expression of caspase-3 and apurinic/apyrimidinic endonuclease (APE/Ref-1) after focal cerebral ischemia. METHODS: A model of middle cerebral artery occlusion in rats was performed . The expression of caspase-3P 20 and APE/Ref-1 was examined by immunohistochemistry staining, TUNEL was applied to detected DNA damage, and double labeling with TUNEL and APE/Ref-1 was used to determine the relationship between APE/Ref-1 and DNA damage. RESULTS: The active subunit P 20 of caspase-3 was predominantly expressed within ischemic penumbra. The peak time of caspase-3P 20 positive cells preceded the appearance of TUNEL. With aggravation of cerebral ischemia, APE/Ref-1 immunoreactive cells in penumbra were significantly decreased. CONCLUSION: The activation of caspase enzymatic cascade following cerebral ischemia leads to degradation in DNA, meanwhile, decrease in DNA repair molecules or the failure of DNA repair may deteriorate the course.

Objective To explore the various types of progressive myoclonus epilepsy seizure characteristics, diagnostic strategies, and pathological features.Methods12 cases of progressive myoclonus epilepsy were analyzed with the clinical characteristics, the routine laboratory examinations, the pathological examination by light and electron microscopy to extra cranial.Results12 cases carried out routine examinations, neural electrophysiological examinations and physical examinations. The result showed that there 5 patients diagnosed with Neuronal Ceroid Lipofuscinoses, 5 patients with MERRF, 1 patient with Lafora Disease, 1 patient with Unverricht-Lundborg disease.ConclusionProgressive myoclonus epilepsy is a group of rare myoclonus epilepsy syndrome. It can be early diagnosed and properly classified with detailed medical history, characteristics of the EEG, and physical examination of extra cranial tissue, especially electron microscopy examination.

Objective To evaluate the diagnostic accuracy of diffusion tensor imaging (DTI) of corticospinal tract in amyotrophic lateral sclerosis (ALS) and find optimal testing strategies and optimal cutoff values of DTI indices for individual patient discrimination.Methods Thirty-three ALS patients and 34 healthy controls,collected at Peking Union Medical College Hospital from June 2004 through July 2005,undergoing brain DTI studies and fractional anisotropy (FA) examinations along the corticospinal tract,were analyzed by receiver operating characteristic (ROC) curves.Results Compared with the controls,ALS group had significantly decreased FA values in subcortical white matter of the precentral gyrus,the posterior limb of the internal capsule and the cerebral peduncle.In ROC analysis,the average FA value of the former two positions showed the best performance with an area under the curve of 0.917,an optimal cut-off value of 0.604,a sensitivity of 0.759 and a specificity of 0.912.The corresponding data for the average FA of all the three positions and each single position were listed as follows:average of three 0.914,0.648,0.759,0.912; precentral gyrus 0.875,0.509,0.733,0.824; internal capsule 0.845,0.692,0.656,0.941 ; and cerebral peduncle 0.752,0.742,0.656,0.735.Conclusions FA values of the corticospinal tract have a good accuracy in detecting upper motor neuron involvement in ALS.Precentral gyrus and posterior limb of the internal capsule and the average FA values of these two positions were suggested as the preferred testing places and DTI indices for clinical use.

Objective To report the clinical,electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D (CMT1 D).Methods The proband,a 53-year-old man who was found with pes cavus when he was 15 years old,presented with weakness in both lower limbs at the age of 37,aggravated and numbness in legs at the age of 50.His daughter was confirmed pes cavus in her teens and weakness in both lower limbs at the age of 18.Electrophysiology and next generation sequencing were performed in the proband.Results Electrophysiological results of the proband showed demyelinating change in motor and sensory nerves.Latency prolongation was found in bilateral waves Ⅲ,V and abnormal differentiation in bilateral waves Ⅰ of brainstem auditory evoked potential,while both interpeak latencics of Ⅲ-Ⅴ were normal.DNA analysis revealed a heterozygous 1141C ＞ T mutation in exon 1 of early growth response 2 (EGR2) gene in both of the proband and his daughter.Conclusions The onset age of Arg381Cys mutation in EGR2 gene could be at juvenile with weakness in both lower limbs.The phenotype of CMT1D is mild and progressive slowly.

Objective The clinical data of postoperative perirenal hematoma after renal biopsy in recent 10 years were retrospectively analyzed,and its relationship with pathological type was explored.Methods From April 2003 to April 2013,2062 patients of renal biopsy were enrolled and divided into 3 groups:youth group (18-39 years,1634 cases),middle age group (40-59 years,323 cases) and aged group (≥60 years,105 cases).Relationship between renal hematoma and pathology was analyzed.Results There were 1370,255,69 cases of primary glomerular disease respectively in 3 groups,and 264,68,36 cases of secondary glomerular diseases.Three hundred and seventy-nine in all patients were complicated with perirenal hematoma,and the incidence rates were 15.8％ (325/2062),1.8％ (37/2062),0.8％ (17/2062) respectively.Incidence rate of hematoma in primary glomerular disease was higher than that in secondary diseases [19.0％ (322/1694) vs.15.5％ (57/368)].Three most common primary glomerular disease in which perirenal hematoma occured was IgA nephropathy 7.4％ (126/1694),focal/segmental lesions 4.2％(71/1694) and membranous nephropathy 2.4％ (41/1694); while the incidence rate of lupus nephritis hematoma was as high as 9.0％ (33/368).Conclusion Single-center data shows that the most common pathology types of perirenal hematoma are lupus nephritis,IgA nephropathy,focal/segmental lesions and membranous nephropathy.

Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.