Studies have indicated approximate 50% cases of coronary heart disease are closely associat-ed with genetic factors and it. It is well evidenced that lipid abnormality is the important risk factors of coronary heart disease. Many single nucleotide polymorphisms that influence levels of blood lipids were found and con-firmed in recent years. The article summarized the single nucleotide polymorphisms associated with the level of lipid.

IgA vasculitis (IgAV) is a common systemic small-sized vessel vasculitis.It's characterized by non-thrombocytopenic palpable purpura,arthralgia/arthritis,bowel angina,and nephritis,but some details of etiology and pathogenesis is not very clear.The disease course is usually benign and self-limited,however,it is necessary to discuss the therapy of severe or chronic cases,especially there is not enough evidence-based basis for using key drugs to IgAV.Excellent clinical trails is expected to establish scientific system of prediction and evaluation of disease course,which will be helpful to individualize treatment of IgAV.

Objective To investigate the coronary arterial lesions (CAL) in Kawasaki disease (KD) in Jilin Province and Inner Mongolia Autonomous Region from 1999 through 2012 and evaluate the influence of glucocorticoids (GCs) on prognosis.Methods We performed a retrospective study among patients of KD in Jilin Province and Inner Mongolia Autonomous Region from 1999 to 2012,in order to observe CAL in KD,the incidence of sequelae and the influence of CGs on disease outcome.Comparison between groups was carried out by Chi-square test.Results Eight hundred and ten KD cases were reported from 32 hospitals and 787 patients accepted an Echo examination,as the main objective of this study.Fivehundred and forty were boys and 247 were girls,with the male to female ratio of 2.19:1,of which 498 cases (63.3％) had CAL.Most CAL occurred in patients at 58 day to 14 year old (2.7±2.4).The most common abnormality was CAL including dilatation (49.5％) and stenosis (13.4％).Compared incomplete to complete KD,the result showed that the occurrence of CAL was similar between these two groups,no significant differences could be found between different gender.Nineteen (2.4％) of them had cardiac sequelae and the male/female ratio was 3.67:1.The younger the age,the higher the incidence of cardiac sequelae.The most frequent cardiac sequelae was coronary artery dilatation.GCs therapy could increase the occurrence of CAL [80.2％(97/121) vs 62.6％ (419/666),x2=8.71,P＜0.05].Conclusion CAL is not different between patients with complete or incomplete KD and the occurrence of CAL is not associated with gender,but with age.The younger the age,the higher the incidence of CAL and the higher the incidence of cardiac sequelae.It is possible that patients treated with GCs are prone to CAL.

Hyperlipidemia pancreatitis in children is mostly genetic metabolic disease.The incidence of acute pancreatitis in children is only (3-13)/100 000, and pancreatitis caused by hyperlipidemia accounts for 9% of acute pancreatitis.A child suffering from V-type hyperlipidemia pancreatitis was admitted to the Children′s Hospital Affiliated to Nanjing Medical University in July 2019.The missense mutation at position c. 2770G>A of CFTR gene (nucleotide 2770 in coding region changed from guanine to adenine) in children was detected by gene sequencing, thus resulting in amino acid change p. D924N.It is extremely rare to report that CFTR gene mutation causes hereditary pancreatitis, and there is no literature report on c. 2770G>A site.This case is reported as follows, hoping to provide reference and inspiration for pediatricians.

Objective To study the effects of 5-HT1A receptor in hippocampal dentate gyrus on anxiety behavior of adult rats with Parkinson's disease (PD).Methods PD model in rats was constructed by using 6-hydroxydopamine (6-OHDA) to lesion the medial forebrain bundle (MFB).In lesioned rats and sham-operated rats,we examined the changes of the number of TFH-positive neurons in the SNc and VTA.We also examined how 5-HT1A receptor of hippocampal dentate gyrus (DG) modulates the anxiety-related behavior using open field test and elevated plus-maze test,and examined monoamine neurotransmitter changes in the striatum,medial prefrontal cortex (mPFC),amygdale and ventral hippocampus using reverse-phase high performance liquid chromatography with electrochemical detection.Results In 6-OHDA-lesioned rats,the SNc of the injected side showed a total loss of TH-ir neurons compared with the unlesioned side,and the number of TH-ir neurons in the VTA on the lesioned side decreased significantly to (34± 2)％.The locomotor activity in 6-OHDA-lesioned rats decreased compared with that in sham-operated rats.Unilaterally lesioning the MFB decreased the percentage of time spent in the center in the open-field test and percentages of open arm entries and open arm time of elevated plus maze test when compared with sham-operated rats.In the sham-operated rats,intra-DG injection of 8-OH-DPAT did not affect anxiety-like behavior.In 6-OHDA-lesioned rats,intra-DG injection of 8-OH-DPAT significantly increased the percentage of time spent in the center at a dose of 100 ng and 500 ng when compared with saline injection into the DG.Injection of WAY-100635 did not affect rats in the two groups.Unilateral 6-OHDA lesions of the MFB in rats significantly decreased DA levels in the ipsilateral striatum,mPFC,amygdale and ventral hippocampus compared with those in sham-operated rats,but had no effect on 5-HT or NA levels in those structures.Conclusion Unilateral 6-OHDA lesion of the MFB not only totally damaged DA neurons in SNc and partly damaged DA neurons in VTA,but also decreased DA level in the ipsilateral striatum,mPFC,amygdale and ventral hippocampus.Unilateral 6-OHDA lesion of the MFB induces anxiety-related behavior,and activation of 5-HT1A receptor in the hippocampal dentate gyrus has anxiolytic effect in the rat model of Parkinson's disease.

The majority of patients with developmental and epileptic encephalopathy(DEE)has genetic causes and presents with cognitive impairment and severe seizures.Although controlling seizures cannot improve cognitive impairment,targeted therapy based on individualized factors,corrects pathological and physiological processes with clear molecular genetic mechanisms in DEE patients,thereby achieving good clinical outcomes.According to the study of the molecular genetic mechanisms of related DEE such as SCN1A,KCNQ2/KCNQ3,CDKL5 and PCDH19,gene therapy such as antisense oligonucleotides(ASOs),Ataluren,adenovirus vectors,and gene editing has shown great promise for treatment of DEE,among which ASOs demonstrate enormous potential for treatment of DEE.Next-generation sequencing technologies,animal models,inducing polyenergic stem cell technologies,organ clusters from patient cells,and gene editing technologies can promote the development of future targeted epilepsy therapies.

Objective:To explore any changes in the topology of the brain′s resting-state functional networks after an ischemic stroke causing cognitive impairment (iPSCI) and their relationship with the impairment.Methods:Twenty-one patients with impaired cognition after a stroke were recruited into an iPSCI group, and 21 healthy counterparts matched in gender, age and the education level formed the control (HC) group. Three-dimensional T1-weighted anatomical images and resting state functional magnetic resonance images of all of the subjects were collected and any differences in brain network topology were analyzed using graph theory. The degree of centrality (DC), between centrality (BC) and the global topological properties of each brain region were compared using independent-sample t-tests. Spearman correlation coefficients were computed to analyze the significance of any correlation between topology differences and Montreal Cognitive Assessment Scale (MoCA) or Mini-Mental Status Examination (MMSE) scores.Results:Compared with the HC group, a significant DC increase was observed in the orbital part of the right of middle frontal gyrus (ORBmid.R), the right hippocampus (HIP.R), and the right thalamus (THA.R). There was a significant decrease in the left Rolandic operculum (ROL.L), the left postcentral gyrus (PoCG.L), the left supramarginal gyrus (SMG.L), the left angular gyrus (ANG.L), the left and right caudate nucleus (CAU.L and CAU.R), the putamen of the left lenticular nucleus (PUT.L), the left Heschl gyrus (HES.L), the left superior temporal gyrus (STG.L), and the temporal pole of the left superior temporal gyrus (TPOsup.L). Compared with the HC group, the brain regions of the iPSCI group in which the BC had increased significantly were the orbital part of the left middle frontal gyrus (ORBmid.L), the left cuneus (CUN.L), and the right precuneus (PCUN.R). DC was significantly decreased in the left caudate nucleus (CAU.L), the left temporal pole of the superior temporal gyrus (TPOsup.L), and the left of inferior temporal gyrus (ITG.L). Compared with the HC group, the area under the receiver operating curve (AUC) of the shortest path length (Lp) and the normalized Lp (λ) of the iPSCI group increased significantly, and the AUC of the normalized clustering coefficient (γ) and small-worldness (σ) decreased significantly. The DCs of the ROL.L, PoCG.L, CAU.L, HES.L, STG.L and TPOsup.L regions showed moderate positive correlation with the MoCA and MMSE scores ( r>0.4), as did the BC of the CAU.L and TPOsup.L regions ( r>0.4). Conclusions:Cognitive impairment is mainly associated with decreased nodal properties in the brain regions related to language and in the caudate nucleus. The topology of the frontal lobe, hippocampus, thalamus, striatum and default networks may self-repair after an iPSCI. The brain′s functional network after an iPSCI still has small-world properties, but with low efficiency and high cost.

It has been well established that immune surveillance plays critical roles in preventing the occurrence and progression of tumor. More and more evidence in recent years showed the host anti-tumor immune responses also play important roles in the chemotherapy and radiotherapy of cancers. Our previous study found that tumor- targeting therapy of anti-HER2/neu mAb is mediated by CD8(+) T cell responses. However, we found here that enhancement of CD8(+) T cell responses by combination therapy with IL-15R/IL-15 fusion protein or anti-CD40, which are strong stimultors for T cell responses, failed to promote the tumor therapeutic effects of anti-HER2/neu mAb. Analysis of tumor microenviornment showed that tumor tissues were heavily infiltrated with the immunosuppressive macrophages and most tumor infiltrating T cells, especially CD8(+) T cells, expressed high level of inhibitory co-signaling receptor PD-1. These data suggest that tumor microenvironment is dominated by the immunosuppressive strategies, which thwart anti-tumor immune responses. Therefore, the successful tumor therapy should be the removal of inhibitory signals in the tumor microenvironment in combination with other therapeutic strategies.
Animals ; Antibodies, Monoclonal ; immunology ; therapeutic use ; Breast Neoplasms ; drug therapy ; immunology ; pathology ; Cell Line, Tumor ; Female ; Humans ; Immune Tolerance ; immunology ; Mice ; Mice, Inbred BALB C ; Neoplasm Transplantation ; Receptor, ErbB-2 ; immunology ; Tumor Microenvironment ; immunology

Objective:To explore the characteristics of functional connectivity (FC) and regional spontaneous brain activity in patients in a minimally-conscious state (MCS).Methods:Resting-state functional near-infrared spectroscopy (rs-fNIRS) was used. Ten minimally-conscious patients were studied along with 12 healthy counterparts as healthy controls (HC). Five minutes of rs-fNIRS data were recorded from each subject and FC and the fractional amplitude of low-frequency fluctuations (fALFFs) of 53 channels were computed using the NIRS-KIT toolbox. The results were compared between the two groups.Results:Compared with the HC group, a significant decrease was observed in the average FC strength of seventeen channel pairs after false discovery rate (FDR) correction. Most were in the right and left frontal pole, as well as the dorsolateral prefrontal lobe. Compared with the HC group, the average fALFF values of Broca′s area (channel 2), the premotor cortex and the supplementary motor cortex (channels 4, 10, and 40), the dorsolateral prefrontal lobe (channels 6, 11, 25, 39), the eye motor area of the frontal lobe (channel 12) and the frontal pole (channels 23, 27, 36) were significantly greater in the MCS group. The fluctuations of the frontal pole (channel 19) were significantly less (after FDR correction).Conclusion:In an MCS spontaneous neural activity is over-active in the prefrontal lobe and some speech- and motor-related brain regions, and coordination of the internal prefrontal functional network is disordered.

With an increasing proportion of sedentary lifestyle related chronic diseases, an efficient way to help fight the growing world epidemic of non-communicable diseases (NCDs) and promote public health in a fast-changing world is urgently needed. Exercise and medicine science have played an important role in prevention and control of NCDs. However, the current status and future development directions regarding the integration of exercise science and medicine (IESM) in China have not been well discussed. During 2017 Belt and Road Initiative Global Health International Congress & 2017 Chinese Preventive Medicine Association-Chinese Society on Global Health Annual Meeting, Xi'an Jiaotong University Global Health Institute, and the Integration of Sport and Medicine Innovation Research Center, China Institute of Sport Science organized the IESM Forum on September 27. Six leaders and experts from China and abroad presented excellent research reports in the IESM Forum from several aspects. Experts reached a consensus at the end of their discussions that, in the near future, the IESM will be a key part of a sustainable health care system and as such should contribute to prosperity in China and around the world. However, Abstract compared with European, American and Japanese universities, the development of the IESM in China is in its early stages with huge development potential.