IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical teeth, and recurrent infections involving bacteria, fungi, and viruses after one month of age, together with hypogammaglobulinemia. These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the IKBKG gene in the patient. The mother of the patient was identified as heterozygous carriers of the same mutation. Immunological assessment revealed a significant reduction in memory B cells. The patient showed no skewed TCR diversity. PHA-induced T-cell proliferation was impaired. IFN-γ secretion by Th cells was significantly reduced after PHA stimulation. IκBα degradation rate retained the same in the patient. We summarized the clinical features of the patient and conducted immunological analysis, in order to increase pediatricians′awareness of this rare disease. For boys with early-onset recurrent infections together with ectodermal dysplasia, IKBKG mutation should be considered. In addition, genetic analysis is needed to exclude pseudogene interference and functional evaluations are required.

Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.

Objective To investigate the changes of brain white matter microstructures in patients with methamphetamine addiction and to analyze the correlation between the changes of brain white matter microstructures and mental symptoms. Methods Twenty-five methamphetamine addictions (MA) and twenty-five healthy controls (HC) were enrolled through community and treatment centres from 2015 to 2016. The data of diffusion tensor imaging (DTI) were obtained on 3.0 T MRI scanner. All the subjects′mental symptoms were assessed by symptom check list-90 (SCL-90). The fractional anisotropy (FA) was compared by the tract based spatial statistic (TBSS). For the comparison of the value of AD, the value of RD and clinical data between two groups, the normal distribution and homogeneity test of variance were carried out first. If the normal distribution and homogeneity of variance were satisfied, the two-sample t test was used, if not, the Mann-Whitney rank sum test was used. The correlation between FA, RD and AD values in white matter differential brain areas and methamphetamine dosage, time and psychosocial scale were analyzed by spearman test. Results SCL-90 scores in group MA were significantly higher than those in HC (P<0.05). Compared with HC group, FA value of right genu of corpus callosum in MA group decreased, and the value of RD value increased significantly (P<0.05). The AD value also decreased in MA group, but there was no significant difference between two groups(P>0.05). There was a positive correlation between FA value of white matter of differential brain area and hostility score in SCL-90 (r=0.450, P=0.024), and a negative correlation between RD value and hostility and paranoid scores (hostility:r=-0.590, P=0.002;paranoid:r=-0.438, P=0.028). Conclusion MA can damage the integrity of the synaptic fibers connecting the frontal lobe of the brain, which is related to multiple mental scores. It suggests that decreased white matter integrity may be one of the neurological mechanisms of mental disorders related to methamphetamine addiction.

Objective To investigate the effects of different abstinent duration on brain functional network of heroin addicts at resting state.Methods Sixteen heroin addicts during protracted abstinence for 11-13 months (PA12 group) and twenty heroin addicts during protracted abstinence for 5-7 months (PA6 group) were recruited in the resting-state functional MRI study.Graph theoretical methods were applied to construct topological organization of whole brain network and nodes betweenness of the networks in all subjects,and the between-group differences were analyzed.The correlation of the node betweenness with the abstinence duration was conducted.Results There was no significant difference (P＞0.05) in the small world characteristic (γ≈1,λ》1) between two groups.Compared with the PA6 group,the PA12 group demonstrated significantly decreased nodal betweenness in regions of left parahippocampal gyrus,left precentral gyrus,and significantly enhanced nodal betweenness in regions of the left cuneus,left temporal and right middle occipital gyrus (all P＜0.05).Moreover,the betweenness of the left precentral gyrus (r =-0.52,P =0.001) and parahippocampal gyrus (r=-0.49,P=0.002) were negatively related with the abstinence duration,the betweenness of the right middle occipital was positively correlated with the abstinence duration (r=0.49,P=0.003).Conclusion The brain network small world topology of heroin addicts tend to be stable after 5-7 months of abstinence.Long-term abstinence may minimize the addicfs memory of drugs and potential drug seeking behavior,and recover addicts' visual spatial attention function.

Objective To summarize the experiences of endovascular aortic repair (EVAR) for isolated iliac artery aneurysm (ⅡAA).Methods The clinical data of 23 patients with ⅡAA undergoing EVAR from Aug 2008 to Mar 2016 were retrospectively analyzed.There were 5 cases of internal iliac artey (internal iliac artery ⅡA) aneurysm,10 cases of unilateral common iliac artery(common iliac artery CIA) aneurysm,6 cases of bilateral CIA aneurysms.Unilateral ⅡA aneurysm was treated by coil embolization and covering the entrance;CIA aneurysm without involving ⅡA was treated by EVAR with covered stent,those involved unilateral ⅡAs or combined ⅡA aneurysms were treated by EVAR after ⅡA embolization.Those with bilateral ⅡA involvement were repaired by Sandwich technique;Bilateral ⅡA was treated in two phases.Results All endovascular procedures were successfully performed;No patients died during the perioperation period.Intraoperative endoleak found in 5 cases managed by balloon dilatation,or conservatively were cured.23 patients were followed-up for 2-60 months,one rebuilding ⅡA was occluded.One CIA anurysm complicated with endoleak was cured by coils embolization and stenting.Gluteal claudication and erectile dysfunction occured in 4 out of 15 cases with unilateral or bilateral ⅡAs occlusion.Conclusion EVAR is a safe and effective treatment for ⅡAA,after a proper management for ⅡA.

Objective To investigate the efficacy and the course of desensitization treatment in bronchial asthma with positive specific IgE to dust mite in children. Methods A total of 105 children with bronchial asthma with positive specific IgE to dermatophagoides farinae allergens were randomized into the observation group and the control group. Children in the control group were treated to continue anti-asthma according to the routine of prevention and treatment children with asthma. Chinldren in the observation group were treated by dermatophagoides farinae drops in addition to the treatment of children in the control group. The recurrence of asthma was compared between two groups at 25 weeks post-treatment. At 25 weeks post-treatment , children in the observation group was randomly divided into the observation groupⅠand group Ⅱ. Children in the observation groupⅠreceived continuous treatment except for desensitization treatment. Children in the observation group II received the sublingual immunotherapy with dermatophagoides farinae drops (No.4) for 1 year in addition to the treatment in the observation groupⅠ. The recurrence of asthma was also compared between the two sub-groups. Results The rate and times of recurrence of asthma were lower in the observation group than those in the control group(P < 0.05), with no significant differences between the observation groupⅠand groupⅡ (P > 0.05). Conclusion The recurrent rate and frequency of asthma could be reduced by the sublingual immunotherapy with dermatophagoides farinae drops in children with asthma of positive specific IgE to dust mite. The course of treatment may be half year long.

Objective To explore the changes and effect of functional connectivity(FC) of reward network in chronic heroin addicts(HA) using resting-state fMRl(rs-fMRI). Methods rs-fMRI was performed on 26 chronic heroin addicts(HA group) and 25 matched normal volunteers(control group).The rs-fMRI data were proceeded by usingrs-fMRI(DPARSF) software on Matlab 2009a. Bilateral nucleus accumbens(Nacc) were set as ROIs. Then the mean time series of ROI were compared with other voxels within the brain by the rs-fMRI data analysis toolkit(REST). Intra-and inter-group analysis was performed with single sample and two sample t test respectively.The association of intensity of FC in brain regions and the duration/doses of heroin consumption was investigated. Results In HA group, positiveresting-state FC compared with the ROIs was found in frontal gyms, dorsal striatum, thalamus and pons, while temporal lobe, negative found in part of parietal cortex and occipital cortex, part of dorsal lateral prefrontal cortex and cerebellum. Within control group, positive FC compared with the ROIs was found in frontal gyms, dorsal striatum, thalamus, hippocampal gyrus and pons, occipital cortex, negative FC with ROIs found in part of dorsal lateral prefrontal cortex and cerebellum(P<0.005, voxels>26). Compared with the control group,the FC between the right Nacc and the bilateral calcarinegyrus, left middle occipital gyrus(voxel numbe r=31,28,47;t=3.99, 3.74,3.74;and P<0.005,respectively)were significantly increased in the HA group.The FC between the left Nacc and left fusiform gyrus and right precuneus(voxel number=40,26;t=3.77,3.57;and P<0.005, respectively)were significantly increased, while between the left Nacc and left dorsal medial/lateral prefrontal cortex and bilateral dorsal anterior cingulate(voxel number=98;t=-4.14;and P<0.005)were significantly decreased in the HA group. There was no corrlation between the abnormal FC and the duration/doses of heroin consumption in HA group(P>0.05). Conclusion The abnormal interaction between Nacc and the regions involved in cognitive control and visual spatial attention may contribute to the heroin addiction.

PurposeHeroin addiction is a chronic and recurrent functional brain disease, there are some functional changes in specific brain regions, but the network character remains unclear. The aim of this paper is to explore the network character of brain resting-state functional network in heroin addicts, to identify the potential neuromechanism of heroin addiction from the perspective of brain network.Materials and Methods Thirty heroin addicts (HA group) and twenty-nine healthy controls (control group) underwent resting-state functional MRI scanning using GE 3.0T MRI scanner. The brain functional networks were constructed based on graph theory, the small-world properties and node properties were calculated and compared between the two groups, the correlation between the total dosage of heroin and node degree was analyzed.Results Compared with control group, the small world characteristics of HA group was altered with statistically significant difference (P<0.05, corrected by false discovery rate); the node degrees in orbit frontal regions increased, while those in occipital brain regions decreased (P<0.05, corrected by false discovery rate). No correlation was found in HA group between node degree and the total dosage of heroin.Conclusion These results suggest that topology of functional brain networks were altered in heroin addicts which tends to random networks; increased motivational driving to the salience of drug and decreased visuospatial attention in heroin addicts may provide a strategy for identifying the neuromechanism of heroin addiction.

Objective To explore the effect of methadone maintenace treatment (MMT)in functional connectivity (FC)of nucleus accumbens (Nacc)on heroin addicts,and to identify the potential neuromechanism of MMT performing on heroin craving.Methods Craving scores and resting-state fMRI (rs-fMRI)were performed in 37 heroin addicts under MMT and 26 matched heroin addicts (HA) without any treatment.The rs-fMRI data preprocessing was performed by data processing assistant for rs-fMRI (DPARSF)soft-ware based on Matlab 2009a.Bilateral Naccs were set as regions of interesting (ROIs)respectively,and then the mean time series and other voxels within whole brain were analyzed by the rs-fMRI data analysis toolkit (REST).Intra-and inter-group analysis was performed with a single sample t-test and two sample t-test respectively.The partial correlation between the intensity of FC in brain regions showed abnormal FC and the duration/doses of methadone consumption was further investigated by SPSS.Craving scores were tested with two sample t-test.Results Inter-group analysis showed the FC of the right Nacc with left dorsal medial/lateral prefrontal cortex and right dorsal anterior cingulate was significantly increased in the MMT group in comparisonwith HA group,how-ever,it was decreased with right medial orbitofrontal cortex.The FC between the left Nacc and left dorsal medial/lateral prefrontal cortex,right dorsal lateral prefrontal cortex,right dorsal anterior cingulate and left insular cortex was also significantly increased in the MMT group (P <0.005,voxels>26,t=2.91).There were no regions with induced FC.The craving scores of MMT were signifi-cantly lower than those of HA (t = - 2.03,P <0.05 ).There was no significant correlation between the abnormal FC and the duration/doses of methadone consumption in MMT group.Conclusion MMT may influence the function of the nucleus accumbens through cognitive control and motivation/drive circuits,thereby reduce drug craving of heroin addicts.

Objective To explore the changes of cerebral local neuronal spontaneous activity between heroin dependent individuals and normal controls.Methods 3.0 T MRI were used for data acquisition,fMRI data were acquired during resting state from 20 male heroin dependent individuals(HD)and 1 5 matched normal controls(NC),and then the difference of amplitude of low frequency fluctuation (ALFF)between groups were analysised.Results Compared with NC,ALFF in rostral cingulated zone(bilateral anteri-or cingulate cortex ,medial prefrontal cortex )was significantly reduced in HD.Conclusion Dysfunction of resting state in RCZ were observed in HD,which may result in cognitive impairment and plays an important role in the transitions from ideas into behav-ior of relapse in addiction.