Objective: To exlpore the value of voxel-based quantitative CT in evaluation on injury degree and spatial distribution in different lobes of chronic obstructive pulmonary disease (COPD) patients. Methods: COPD patients who underwent inspired and expired CT scanning were consecutively recruited from the multi-center study named Digital Lung.Quantitative parametres of functional small-airway disease (fSAD) and emphysema (Emph) were measured. The degree and distribution of pulmonary lobar injury were analyzed according to Emph and fSAD among different pulmonary lobes. At the same time, the correlation of quantitative CT distribution and lung function of each lobe was analyzed. Results: A total of 50 COPD patients were eventually included. Emph and fSAD of the right middle lobe (RML) was the most severe, followed by the upper lobes of the two lungs, while the lowest degree of injury were seen in both lower lobes of the lungs. Emph and fSAD were both mainly distributed in the left upper lobe (LUL), followed by in the right upper lobe (RUL), while in the right middle lobe (RML) was the least. Either fSAD or Emph showed better correlations with FEV1% in both lower lobes. Conclusion: The injury of the lobes in COPD patients mainly distribute in the RML and both upper lobes, especially the former. Emph and fSAD mainly distribute in the LUL, followed by the RUL. The lower lobes of the lungs have greater influence on pulmonary function in COPD patients.

Objective To study the mechanism of endoplamic reticulum stress(ERS)pretreatment induced by 2-DG on the auditory cortex injury after focal cerebral ischemia-reperfusion injury in rats. Methods The SD rats were randomly divided into 3 groups,sham group,I/R group,and ERS pretreatment group. Tread occlusion was used to prepare the model of MCAO in the mice for 60 min followed by reperfusion for 24 h. Neurological assessment was exercised and brain infarction volume was evaluated. The auditory brainstem response was tested. The pathological changes were observed by HE staining. Neurocyte apoptosis was observed by Tunel ,and the apop-tosis index(AI)was determined. Expression of GRP78 and Caspase-12 were detected by immunohistochemistry. Results Compared with the sham group,the neurological scores,ratio of infarct volume and the hearing thresh-olds in I/R group increased significantly. HE staining showed the normal structure disappeared ,and apoptotic index increased significantly. Expression of GRP78 and Caspase-12 protein significantly up-regulated. Compared with I/R group,the indicators above showed improvement to some degrees. Conclusions The ERS pretreatment can alleviate the ischemia-reperfusion injury and neuron apoptosis in auditory cortex ,and reduce the possibility of hearing loss.

Objective To explore the inheritance characteristics of SCN1A gene in familial severe myoclome epilepsy in infancy.Methods The clinical information and blood of the patients and their relatives who had febrile seizure(FS)or epilepsy history were collected.Blood genome DNA were extracted.All exons of SeN1A gene were PCR amplified and screened with denaturing high Performance liquid chromatography(DHPLC)technology,and sequence analysis was performed.Results Fourteen SME patients had FS or epilepsy family history.Five were found positive history in first class relatives and 2 of them had inherited mutations of SCN1A(C.4284+2T>C and e.1216G>T):Other9 were found positive history in second class relatives and 2 of them had de novo mutations of SCN1A.Condusions SCN1A is the pathogenic gene for SME.The same muatation of SCN1A gene can be related to different clinical phenotypes.SME patients whose first class relatives with FS or epilepsy history should be taken as the focus of SCN1A inherited mutation screening.

Objective To screen and analyze nucleotide variants in 5'-untranslated region(5'-UTR)in voltage-gated sodium channel α1-subunit gene(SCN1A)in patients with Dravet syndrome and to evaluate the association of the variants with disease.Methods Peripheral blood of 24 patients with Dravet syndrome and 100 unrelated normal persons were collected and genomic DNA was extracted.PCR-sequencing of SCN1 A 5'-UTR in these DNA was performed.To evaluate the possibility of mutation inducing disease,bioinformatics analysis was applied to analyze the conservation of the sequences around the mutation site and predict the potential transcription elements.Results The nucleotide variant of 166.642.520G→A in exon 2 was identified in two patients,but not in normal controls.The mutation was a de novo mutation in a patient with early-onset.In the second proband,the mutation was also carried by his clinically asymptomatic mother.The nucleotide site 166.642.520 was moderately conserved in mammals(62.5%).The average nucleotide identity rate between human and other mammals species in the region adjacent to 166.642.520 was 88.5%.Two potential transcription regulatory elements were predicted on the sequence with the mutation of 166.642.520G>A,and only one on the sequence with wild-type.Conclusions The mutation 166.642.520G>A may be associated with Dravet syndrome and further studied should be performed to verify it and demonstrate its pathogenic mechanisms.

Objective To explore the effect of fluoxetine on the brain function of bulimia nervosa (BN) patients.Methods Seven female BN patients,who met criteria of the 3rd version Chinese Criteria of Mental Diseases (CCMD-3),accepted functional magnetic resonance imaging (fMRI) examinations before and after the antidepressant treatment (fluoxetine (20 mg/day)) for three months.Seven normal controls accepted the same fMRI examination only at baseline.fMRI imaging was block-design.Blocks of food or non-food stimulus containing pictures selected from International Affective Picture System (IAPS) which were shown by computer automatically.All subjects were evaluated by Hamilton anxiety scale (HAMA),Hamilton depression scale (HAMD17) and Likert Scale-likelihood evaluation to the same pictures in the fMRI imaging blocks.Results The average intensity and volume activated in BN before treatment were both significantly lower than that in the control (P＜0.05).But under stimulus of food pictures,bilateral prefrontal cortex and left amygdala of BN patients were significantly activated.After fluoxetine treatment,the intensity and volume activated both increased significantly (P＜0.01) and the main areas being activated were right temporal,cerebellum and bilateral prefrontal cortex.Conclusion Fluoxetine improves the bulimic symptoms of BN patients and decreases abnormal activation of prefrontal and limbic in these areas.The underline mechanism may be related to functions of serotonin system in prefrontal-limbic path.

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.

Objective To study the effect and mechanism of endoplamic reticulum stress on the auditory cortex injury after focal cerebral ischemia-reperfusion injury in rats.Methods 30 healthy male adult SD rats were chosen and randomly divided into 2 groups,ischemia-reperfusion(I/R) group and sham operated control,with each group 15 rats.The rats in I/R group were operated for suture-occluded method to establish middle cerebral artery occlusionmodel(MCAO),with ischemia for 60 mins followed by reperfusion for 24 h.And the control group was only to be isolated cervical vessels,with no thread embolism inserted.The auditory brainstem response (ABR) was tested before operation and at 24 h post-operation respectively.The neurological deficits,ratio of infarct volume were evaluated.The pathological changes were observed by HE.Neurocyte apoptosis were observed by Tunel,and the AI were determined.The expression of GRP78,Caspase-12 were detected by immunohistochemistry and Western blotting.Results Compared with the sham group,the neurological function scores,the infarct volume of brain of I/R group increased significantly.The threshold of ABR elevated significantly and AI rised in I/R group.HE staining showed that the neurons in the sham group were arranged in order,the shape was normal,but in the I/R group the normal structure disappeared,the nuclei were condensed.The expression of GRP78,Caspase-12 protein were significantly up-regulated.All of the differences above have statistical significance(P＜0.05).Conclusion The mechanism of hearing loss after focal cerebral ischemia-reperfusion injury in rats is perhaps related to endoplamic reticulum stress,and GRP78,Caspase-12 participate in the process of neuron apoptosis on auditory cortex caused by ERS.

Objective To produce a plastic ampoule with an opening that fits syringe adapters to allow solutions to be drawn up without needles (to avoid needle stick and sharps injuries) and to test the effectiveness of the new design in terms of residual fluid volume and risk of microorganism contamination. Methods Evaluation study based on laboratory research was adopted. For the experimental group, 30 ampoules based on the new design were produced by 3D printing. The ampoules were sterilized and filled with 2 ml sterile water. The sterile water was drawn up without the use of needles, and the wastage fluid (i.e., 2 ml minus the quantity drawn up) was calculated. A 1 ml aliquot of sterile water from each ampoule was dropped onto a nutrient agar plate, and the number of colony-forming units was assessed after 48 h. For each ampoule, the experiment was performed twice. Sixty 2 ml glass-packaged sterile water injections constituted the control group. The fluid was drawn up with a needle, and the superfluous fluid and number of colony-forming units were assessed, as in the experimental group. Results The mean wastage fluid was 0.06 ml, 95% CI was 0.05-0.07 ml in the experimental group and the superfluous fluid was 0.06 ml, 95% CI was 0.06-0.07 ml in the control group, there was no significant difference between the two groups (Z=-1.194, P=0.233). The number of colony-forming units was 8 in the experimental group and 4 in the control group, there was no significant difference between the two groups (P=0.224). Conclusions The newly designed plastic ampoule opening could help health workers to avoid needle stick and sharps injuries when drawing up solution. The wastage fluid and microorganism contamination levels met the required standards, indicating that the new design is suitable for clinical application.

Objective To evaluate the extent and anatomic distribution of air trapping in lung in young asymptomatic female subjects to achieve early diagnosis of small airway diseases.Methods Fifty young females with normal pulmonary function were included retrospectively in this study.All subjects underwent both inspiratory and expiratory CT scans,the percentage of the area of air trapping(AT)and the percentage of the area of emphysema(Emph)were quantitatively analyzed.Comparison between bilateral lungs was analyzed using independent-samples t test;Comparisons among lobes were done using one-way ANOVA or Kruskal-Wallis rank sum test;Pairwise comparisons between lobes were conducted using LSD test or paired comparison;The effects of each lobe on AT were analyzed using Spearman's rank correlation coefficient,simple linear regression and multiple stepwise regression.Results There was a certain degree of air trapping in lung and a small amount of emphysema in young asymptomatic females.Air trapping was mainly located in the right middle lobe (RML)and bilateral upper lobes.The ratio of air trapping to volume was the highest in RML and the change of air trapping in the bilateral upper lobes had the greatest influence on the air trapping degree of the whole lung.Conclusion There is a certain degree of air trapping in lung in young asymptomatic females.The occurrence and development of air trapping in RML may be a sensitive biomarker for the early detection of pathophysiological changes in small airway diseases using imaging procedures.