Objective To study the value of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in gene diagnosis on spinal muscular atrophy (SMA).Methods PCR-RFLP method was used to detect the homozygous deletion of the exon 7 or exon 8 of SMN gene in 20 SMA patients of Type Ⅰ,Ⅱ,Ⅲ and 15 normal individuals.Results Homozygous deletion of exon 7 and exon 8 of the SMN gene were all identified 7/7 in SMA TypeⅠpatients, and 5/5 and 4/5 respectively in SMA Type Ⅱ patients, but only 1/8 of SMA Type Ⅲ patients, and no homozygous deletion was found in the normal controls.Conclusions PCR-RFLP might be recommended as an effective diagnosis for spinal muscular atrophy Type Ⅰand Ⅱ patients, whereas the method might not be as useful in Type Ⅲ as in Type Ⅰand Ⅱ for the gene diagnosis.

Objective To investigate the change of the cerebral glucose metabolism in Parkinson's disease(PD) with cognitive impairment.Methods Fifty patients with PD and twenty normal controls were enrolled in this study.Based on MMSE score,the PD patients were divided into PD-NC(n=25) and the PDD(n=25) group.Twenty age-and sex-matched physical health examinationer were colleted as control group.Using the SPM to analyze the characteristics of the metabolism in different cognitive level io PD patients.Results (1) Compared with control group,P D-NC group showed significant hypermetabolism in occipital (-24,-92,10),parietal (-48,12,-16) and temporal lobe(52,8,-32).(2)Compared with control group,the glucose metabolism of PDD group decreased in most cerebral cortex and subcortex.(3)Compared with PD-NC group,the metabolism of parietal lobe (-42,-48,40),occipital lobe (-22,-96,-6) and tetnporal lobe (-42,-58,16) reduced in PDD group.Conclusion Cortical brain metabolism decreases in PD-NC group.The degree and scope of glucose metabolism of PDD group will increase with the progress of cognitive dysfunction.These features could help with the diagnosis and differential diagnosis of cognitive dysfunction in Parkinson's disease.

Objective To investigate the characteristics of cerebral glucose metabolism (CGM) in PD patients with cognitive impairment (PD-CI) using 18F-FDG PET/CT,and to analyze the correlation between the progress of PD-CI and CGM changes.Methods A total of 31 idiopathic PD patients (14 males,17 females,aged 37-77 years) from May 2013 to February 2014 were divided into 3 groups based on Montreal cognitive assessment (MOCA):none CI in PD (PD-NC) group (MOCA＞26 scores),mild CI in PD (PD-MCI) group (MOCA 21-26 scores),PD with dementia (PDD) group (MOCA＜21 scores).The normal controls (NC) group included 12 age-and gender-matched healthy adults (7 males,5 females,aged 40-76 years).All subjects underwent PET/CT imaging after intravenous injection of 18F-FDG(5.55 MBq/kg).MIMneuro software was used to analyze the data.The correlation between the CGM and cognitive function was analyzed using Pearson or Spearman correlation analysis.Results (1) Compared with NC group,PDD group presented a widespread cortical metabolism decrease in frontal,parietal,temporal,occipital 19bes and the limbic lobe;PD-MCI group showed hypometabolic areas in the parietal and occipital lobes,and with less extent in the frontal and temporal lobes;PD-NC group showed no significant cerebral hypometabolism.(2) Compared with PD-NC group,PDD group showed widespread cortical metabolism decrease in occipital lobe,temporal lobe,partial parietal cortex and the posterior cingulated cortex.Compared with PD-MCI group,PDD group had lower metabolism,mainly in posterior brain areas (parietal,occipital and temporal lobes).Compared with PD-NC group,PD-MCI group showed hypometabolism in right supramarginal gyrus and the left parahippocampal gyrus.(3) There were positive correlations between visuospatiaL/executive function and visual cortex metabolism,angular gyrus metabolism or superior parietal lobule metabolism (r =0.535,0.443,0.395;all P＜0.05).A positive correlation was also found between delayed memory and heschl's gyrus metabolism (r=0.337,P＜0.05).Conclusions The cerebral glucose metabolism detected with 18F-FDG PET/CT is well correlated with MOCA assessments.Thus it may be helpful in evaluation of the progress of cognitive impairments in PD.

Objective To investigate the effects of surface anesthesia on assisted balloon dilatation when treating dysphagia caused by radiotherapy for nasopharyngeal carcinoma.Methods Fifty-four patients with dysphagia after radiotherapy were divided randomly into an anesthesia group and a non-anesthesia group.The anesthesia group received anesthetics before treatment while the non-anesthesia group did not.All of the patients were treated with low-frequency electrical stimulation and assisted balloon dilatation for 3 weeks.They were then assessed using videofluoroscopy and self-reports of difficulty in swallowing before and after the treatment.Results After the treatment, significant improvement was observed in pharyngeal delay time, in cricopharyngeal opening, and in laryngeal elevation and forwardness.There was also a significant decrease in self-reported swallowing difficulty and failed swallows in both groups compared with before the treatment.The improvements in the non-anesthesia group were significantly greater than in the anesthesia group.After the treatment, the average aspiration rate of the anesthesia group was significantly higher than before treatment and higher than that of the non-anesthesia group.The improvement in oral intake of the non-anesthesia group was significantly better than that of the anesthesia group.Conclusion Balloon dilatation and low-frequency electrical stimulation have a synergistic effect and can improve patients' swallowing after radiation-induced cranial nerve damage, thus promoting survival.Assisted balloon dilatation without anesthesia has a better effect than when surface anesthesia is used.

AIM: G protein-coupled inwardly rectifier potassium (GIRK) channel are distributed widely in mammalian brain. In CNS, GIRK 1/2 seems to be the predominant heterotetramers which play a pivot role in the regulation of the excitability of neurons and may contribute to the resting potential by leading to a hyperpolarization of membrane potential and reduction of the action potential frequency. In the context, the Weaver mouse is the first neurological abnormality directly linked to a genetic point mutation in the GIRK2 protein which includes spontaneous seizure. GIRK2 knock out mice showed normal development but more susceptible than normal mice to seizure induced by GABA antagonist. Here, we report that the mRNA and protein expression of GIRK subunit 2 is altered in kainic acid(KA)-induced epileptic rat hippocampus. METHODS: Rats were injected with kainate 14 mg/kg intraperitoneally to establish an acute and chronic temporal lobe epilepsy model. At chronic spontaneous seizure stage, by using of in situ hybridization, immunocytochemistry and Western blotting, the GIRK 1,2 mRNA and protein were analyzed quantitatively in the dentate gyreus, CA1, CA3 regions of hippocampus. RESULTS: GIRK1,2 mRNA and proteins were expressed abundantly in all regions of hippocampus. KA induced seizures and caused a significant increase in GIRK2 mRNA abundance and immunoreacitivity; only GIRK1 mRNA was increased significantly, but no difference was found by Western blotting protocol. CONCLUSION: GIRK1,2 mRNA and protein expression in the hippocampus of epileptic rat brain is up-regulated, which may be an adaptive response to over-excitability of neuron networks and prevent the over-excitability spread in hippocampus (DG-CA3-CA1). [

Purpose To investigate the pathological characteristics of loco-regional recurrent nasopharyngeal carcinoma ( rNPC ) . Methods Nasopharyngeal biopsy specimens of 46 rNPCs and 63 primary NPCs were collected. HE staining, immunohistochemistry and EBV small RNAs ( EBERs) in-situ hybridization were performed. Results The over-expression rates of both p63 and CK5/6 in rNPC were significantly higher than those of primary NPCs (P=0. 005, P=0. 026), while no statistical significance of Ki-67 over-ex-pression existed between the two groups ( P=0. 387 ) . More necrotic tissues, inflammatory exudates, giant bizarre carcinoma cells, desmoplastic stroma, giant bizarre tumor cells and higher degree of squamous differentiation were found in rNPCs. The carcinoma cells of 5 rNPCs were negative for both EBERs in-situ hybridization and LMP-1 immunohistochemical staining. Conclusion The loco-re-gional rNPC has two peaks of latency interval:2~5 and 9~11 years. The loco-regional rNPC cells have higher degree of squamous differentiation with higher expression of p63 and CK5/6, as well as more invasive ability. In addition, both EBERs in-situ hybridization and LMP-1 immunostaining are negative in 10. 87% (5/46) of loco-regional rNPC.

Objective To investigate the correlation between the quantitative results,the semi-quantitative scores from ultrasound elastography and the distribution of myofibroblasts (MFS)in breast tumor,and to analyze the value of quantitative results and the semi-quantitative score from ultrasound elastography in the diagnosis of breast tumor.Methods Thirty eight patients with breast lesions underwent ultrasound elasticity examinations,tissue dispersion quantitative analysis technique was used to assess the 11 characteristic quantities and the corresponding strain ratios in all lesions,and the score of ultrasonic elastography was evaluated.38 cases were divided into benign and malignant group according to pathological diagnosis results.The expression levels of CD34 andα-SMA protein in breast tissue were examined by immunohistochemistry.The distribution patterns of MFS in breast tumor were analyzed. The correlation between the quantitative results, the semi-quantitative scores from ultrasound elastography and the distribution of MFS in breast tumor was studied.Results The expression level of CD34 in malignant group was significantly higher than that in benign group, while the expression level of α-SMA was significantly higher than that in benign group;the differences in the expression levels of CD34 andα-SMA between benign and malignant breast tumor patients were statistically significant (P < 0.01 ).The masses observed in malignant group by elastography were shown in blue,while most of the masses in benign group were shown in green.There were statistically significant differences between two groups in elastography scores (P < 0.05 ). There was a anegative correlation between the CD34 expression in tumor tissue and the score of ultrasound elastography (r=-0.423 7,P =0.027 3).There was a negative correlation between the CD34 expression and the score of ultrasound elastography (r=-0.423 7,P =0.027 3),while the positive correlation was found between theα-SMA expression and the score of ultrasound elastography (r=0.397 0,P =0.014 2).The CD34 expression was significantly correlated with the average relative strain value,entropy,area ratio of low-strain region,kurtosis, skewness and inverse difference moment (P <0.05).Among the 11 characteristics,CD34 was positively correlated with the average relative strain value (r=0.385 6,P =0.016 8)and entropy (r=0.380 5,P =0.018 5);CD34 was negatively correlated with area ratio of low-strain region (r = - 0.351 7,P = 0.030 4),kurtosis (r =-0.427 7,P =0.007 4),skewness (r=-0.394 6,P =0.014 2),inverse difference moment (r = -0.344 3, P =0.034 3),angular second moment (r = - 0.484 9,P = 0.002 0)and strain ration (r = - 0.379 0,P =0.047 5);CD34 was not correlated with standard deviation,complexity and contrast (P > 0.05).The α-SMA espression was positively correlated with kurtosis (r = 0.356 9,P = 0.027 8),skewness (r = 0.323 0,P =0.047 9),area ratio of low-strain region (r=0.382 0,P =0.021 6)and strain ratio (r=0.403 3,P =0.012 0). Conclusion The features and its scores of ultrasound elastography are correlated with the distribution of MFS in breast tumor,suggesting that the ultrasound elastography is very informative and helpful in the diagnosis of breast tumor.

Objective To study the clinical and pathological features in the elderly patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods The features of the clinical manifestation, cerebrospinal fluid, electromyogram(EMG) and the biopsy results of sural nerve were presented and analyzed in 11 elderly patients with CIDP. Results Two cases had history of upper respiratory tract infection before the onset. As the initial symptoms , there were three cases with distal limb numbness, five cases with both distal lower extremities numbness, two cases with both distal upper extremities numbness and one case with difficulties to raise his head. Motor disorder was common to all the patients. There were eight patients with sensory dysfunction, three with limb muscle atrophy, one with muscle tenderness, eight with tendon reflexes weakened or disappeared, five with cranial nerve damaged, three with the autonomic nerve lesion, one with respiratory muscle involved, three with relapse. The score of the peak incidence as Modified Rankin was 3.02 points on average. Five cases had obvious albuminocytolgoic dissociation by the examination of cerebrospinal fluid, ten cases had neurogenic damage and one case had a combined myogenic and neurogenic damage by the EMG. The biopsy showed that six cases were with amyelination,six cases with inflammatory cell infiltrated, two cases with obvious remyelination, two cases with auxiliary fibers degeneration.And the methylprednisolone therapy was effective for eight cases. Conclusions The numbness of the distal limb is the initial symptom of the elderly patients with CIDP,most of whom are with sensory dysfunction ,and some with cranial nerves and autonomic nerve damage. The sural nerve biopsy has an important value for the diagnosis of the elderly with CIDP. The methylprednisolone therapy is proved to be effective for most patients.

Objective To study the effect of Rho-kinase inhibitor on experimental allergic neuritis. Methods 54 female Lewis rats were divided into three groups; EAN group, EAN + Rho-kinase inhibitor group, and CFA group. The rats were sacrificed on the 9th day, 17th day, and 26th day after immunized. The changes of weight, EAN incidence, and mean day of onset, mean maximum clinical score, and histopa-thology were observed. Results The clinical course in EAN group reached peak on the 17th day. Compared with EAN group, the weights of Rho - kinase inhibitor group were increased, while EAN incidence, mean day of onset delay, and the clinical scores in Rho-kinase inhibitor group were significantly decreased, ( P < 0.01) , and the demyelization and inflammation cells infiltrating was ameliorated in spinal nerve. CFA group didnt show any clinical manifestation. Conclusions Rho - kinase inhibitor may ameliorate the development of EAN through inhabiting the Rho/ROK signal pathway.

Objective To study the expression of mRNA of OX40 and OX40L in the sciatic nerve,spleen,peripheral blood mononuclear cells and lymph nodes of EAN under the influence of Rho-kinase inhibitor.Methods All 54 female Lewis rats were divided into 3 groups:the EAN group,the EAN+ Rho-kinase inhibitor group and the complete Freund's adjuvant(CFA)group.The rats were sacrificed at 9,17 and 26 days after immunized.Ox40 and OX40L mRNA were detected by RT-PCR which came from spleens,sciatic nerves,peripheral blood mononuclear cells and lymphonodes.Results In EAN+ Rho-kinase inhibitor group,the mRNA expression of OX40 were 0.266±0.031,0.298±0.024 and 0.113±0.018 at 9.17 and 26 days in the sciatic nerve,the expression were 0.453±0.030,0.496±0.100 and 0.220±0.016 in the lymph nodes.The mRNA expression of OX40L were 0.247±0.018.0.298±0.026 and 0.165±0.013 in the sciatic nerve,the expression were 0.283±0.027,0.306±0.011 and 0.161±0.012 in the lymph nodes.The mRNA expression of OX40 and OX40L in EAN+Rho-kinase inhibitor group was lower than EAN group at the three time points(t=2.24-4.89,P＜0.05),and the demyelination and inflammation cells infiltrating were ameliorated in spinal nerve.CFA group didn't show any clinical manifestation.Conclusion Rho-kinase inhibitor may ameliorate tlIe development of EAN through inhabiting the OX40 and OX40L activation.