Action mechanism of microRNA-484 involved in myocardial fibrosis in hypertrophic cardiomyopathy / 中国胸心血管外科临床杂志

@#Objective     To search for the key microRNAs (miRNAs) involved in myocardial fibrosis in hypertrophic cardiomyopathy, and to further explore the mechanisms involved in the regulation of myocardial fibrosis. Methods    Forty-two patients with hypertrophic cardiomyopathy diagnosed and treated surgically in West China Hospital of Sichuan University from January 2014 to June 2018 were selected, including 29 males and 13 females, with a median age of 46 (15-69) years. In the myocardial tissue of patients with hypertrophic cardiomyopathy with different degrees of fibrosis, miRNAs with significantly different expression were screened and further verified at the cellular level. By regulating the expression of the target miRNAs, the expressions of fibrosis-related proteins and target genes were detected respectively. Finally, the target-binding relationship was verified by dual-luciferase reporter gene detection. Results    miR-484 was up-regulated in severely fibrotic myocardial tissue and activated cardiac fibroblasts. After cardiac fibroblasts were activated by TGF-β1, the expression of miR-484 was significantly up-regulated, the expression of fibrosis-related proteins (CollagenⅠ, α-SMA) increased, and the expression of the target gene HIPK1 decreased (P<0.05). After inhibiting the expression of miR-484 by transfection of miR-484 antagomir, the expression of fibrosis-related proteins decreased, while expression of HIPK1 was up-regulated (P<0.05). The detection of dual luciferase reporter gene showed that the luciferase activity of the transfected WT-miRNA-484 mimics group was lower than that of the control group (P<0.05). Conclusion    miR-484 is a pro-fibrotic miRNA that participates in the process of myocardial fibrosis by negatively regulating the expression of HIPK1. It can be used as a regulatory target to provide a therapeutic strategy for myocardial fibrosis.

Correlation between serum lipoprotein (a) and the severity of white matter hyperintensities in middle-aged and elderly people in the community / 国际脑血管病杂志

Objective:To investigate the correlation between serum lipoprotein (a) [LP(a)] and the severity of white matter hyperintensities (WMHs) in the middle-aged and elderly people in the community.Methods:Consecutive middle-aged and elderly residents residing in the community underwent physical examinations in the Affiliated Jiangning Hospital of Nanjing Medical University from June 2016 to August 2021 were retrospectively collected. Fasting venous blood was collected on the next day of admission to detect the level of Lp(a). During hospitalization, cranial MRI examination was performed and the severity of WMHs was graded using the Fazekas visual scoring method. Ordinal multivariate logistic regression analysis was used to determine independent related factors for the severity of WMHs.Results:A total of 1 752 patients were included in the analysis. There were 969 males (55.31%) and 783 females (44.69%). Their age was 66.18±10.32 years old. There were 1 167 patients (66.61%) in the mild WMHs group, 407 (23.23%) in the moderate WMHs group, and 178 (10.16%) in the severe WMHs group. Ordinal multivariable logistic regression analysis showed that after adjusting for confounding factors, a higher serum Lp(a) level was independently related to the severity of WMHs (with the first quartile as a reference, the third quartile: odds ratio 1.441, 95% confidence interval 1.050-1.976, P=0.023; the fourth quartile: odds ratio 1.717, 95% confidence interval 1.252-2.354, P=0.001). Conclusion:Serum Lp(a) is independently correlated with the severity of WMHs.

Application of dietary safety management based on swallowing function classification in elderly hip fractures / 中国实用护理杂志

Objective:To explore the effect of diet safety management based on swallowing function classification in perioperative period of elderly patients with hip fractures, so as to provide basis for improving perioperative food safety and shortening hospitalization time of patients with hip fracture.Methods:A total of 68 elderly patients with hip fractures in the First Medical Center of PLA General Hospital from December 2020 to August 2021 were selected and divided into experimental group and control group according to even and odd-number of admission number, each group contained 34 patients. The control group was given routine diet nursing and food safety education. The experimental group was given graded diet safety management according to the swallowing function evaluation results. The incidence of aspiration and length of hospital stay were compared between the two groups.Results:The incidence of chocking during hospitalization was 5.1% (78/1 517) in the control group and 1.2% (17/1 402) in the experimental group, and the difference was statistically significant ( χ2=35.73, P<0.01). The incidence of choking in the control group was 0.7% (11/1 517), and 0.4% (5/1 402) in the experimental group, and the difference was not statistically significant ( χ2=1.82, P>0.05). There was no significant difference in hospitalization time between the two groups, 10 (8,12) in the control group and 9 (8,11) in the experimental group ( Z=-1.33, P>0.05). Conclusions:The implementation of diet safety management based on swallowing function classification in elderly patients with hip fractures can reduce the incidence of coughing. Evaluation of swallowing function should be included in the evaluation of hip fractures in the elderly.

Protective effects of lead collars on the thyroid in radiotherapy after breast cancer surgery / 中国辐射卫生

Objective　@#To investigate the protective effects of different types of lead collars on the thyroid during radio- therapy after breast-conserving surgery. @*Methods@#Forty breast cancer patients undergoing radiotherapy after breast-con- serving surgery were randomly divided into four groups to wear different lead collars for thyroid protection: control group (0 mm Pb), common material group (0.5 mm Pb), common material group (2 mm Pb), and new radiation-shielding material group (2 mm Pb). Radiation doses inside and outside lead collars were monitored. A questionnaire survey was conducted to acquire information on patient acceptance of the lead collars.@*Results@#All the groups (except the control group) showed significant differences between scattered radiation doses inside and outside lead collars (P < 0.05). The scattered radiation was attenuated by 33.64% on average in the 2-mm new material group, which was significantly higher than in the other groups (P < 0.05). After radiotherapy, there was no significant change in the color and appearance of skin under lead collars in any group. All the patients were normal at the first thyroid ultrasound re-examination. The 2-mm new material lead collar was the most acceptable.@*Conclusion　 @#The lead collar made of the new radiation-shielding material has a good protective effect on the thyroid gland, and is easily accepted by patients, which can be promoted for application.

Chronic compression of the dorsal root ganglion activates the Wnt/β-catenin signaling pathway in the dorsal horn of the spinal cord in rats / 中华物理医学与康复杂志

Objective:To investigate the effect of chronic compression of the dorsal root ganglion (CCD) on the Wnt/β-catenin signaling pathways in the spinal dorsal horns of rats.Methods:Forty-two adult male Sprague-Dawley rats were randomly divided into a sham group ( n=9) and a CCD group ( n=33). The CCD group was subdivided into a 1d group ( n=6), a 3d group ( n=6), a 7d group ( n=9), a 14d group ( n=6), and a 28d group ( n=6) based on the post-operative time of the experiments. Before the operation for CCD and 1, 3, 5, 7, 14, 21 and 28 days afterward the mechanical withdrawal threshold was detected for all rats. Western blotting was conducted to detect the expression of active β-catenin and glial fibrillary acidic protein (GFAP) in the dorsal horn of the spinal cord 1, 3, 7, 14 and 28 days after the surgery. Seven days after the operation immunofluorescence was employed to detect the nuclear translocation of active β-catenin and the activation of astrocytes in the dorsal horn of the spinal cord. Results:The average mechanical withdrawal thresholds of the CCD groups were significantly lower than that of the sham group at each time point. The western blotting showed that the expression of active β-catenin in the CCD groups was significantly greater than in the sham group at each time point. Seven days after compression the expression of GFAP in the rats′ dorsal horns was significantly higher than in the sham group. Immunofluorescence indicated nuclear translocation of active β-catenin and the activation of astrocytes in the dorsal horn.Conclusion:The Wnt/β-catenin signaling pathways are significantly activated in the dorsal horn of the spinal cord after CCD, at least in rats. It may play an important role in the development of neuropathic pain.

Effects of morning blood pressure on vascular endothelial function and chronic inflammatory response in the elderly / 中国医师杂志

Objectives:To investigate the effects of morning blood pressure on vascular endothelial function and chronic inflammatory response in the elderly.Methods:349 elderly people aged ≥60 who underwent 24-hour ambulatory blood pressure monitoring in Gaomi Municipal Hospital from April 2018 to October 2019 were selected to detect brachial artery flow mediated vasodilation (FMD) and chronic inflammatory factors [high-sensitivity C-reactive protein (hsCRP), tumor necrosis factor-α (TNF-α) and interleukin (IL)-17] levels. According to the results of 24-hour ambulatory blood pressure monitoring, the subjects were divided into normal blood pressure group ( n=108), simple morning hypertension group ( n=114) and hypertension group ( n=127). The clinical data, 24-hour ambulatory blood pressure parameters, vascular endothelial function and inflammatory factors of the three groups were compared. The correlation between 24-hour ambulatory blood pressure parameters and FMD and inflammatory factors was analyzed by partial correlation. Results:Compared with the normal blood pressure group, the simple morning hypertension group and the hypertension group had lower FMD (all P<0.05), higher serum hsCRP and TNF-α , IL-17 levels (all P<0.05). Compared with the simple morning hypertension group, the hypertension group had lower FMD ( P<0.05), higher serum hsCRP, TNF-α and IL-17 levels (all P<0.05). After controlling for age, sex, smoking history, drinking history, total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, fasting blood glucose and 24 h average blood pressure, the morning systolic blood pressure was negatively correlated with FMD ( P<0.05), and positively correlated with serum hsCRP and TNF-α and IL-17 levels (all P<0.05); the morning diastolic blood pressure was negatively correlated with FMD ( P<0.05) and positively correlated with serum hsCRP and TNF-α levels (all P<0.05). Conclusions:Morning blood pressure level is closely related to vascular endothelial function and chronic inflammation level, and is independent of 24-hour average blood pressure. The increase of morning blood pressure may be an important risk factor for endothelial dysfunction and chronic inflammation in the elderly.

Correlation between global burden of small vessel disease on MRI and impaired spatial navigation in patients with cerebral small vessel disease / 国际脑血管病杂志

Objective:To investigate the correlation between global burden of small vessel disease(CSVD) on MRI and impaired spatial navigation in patients with CSVD.Methods:Patients with CSVD admitted to the Department of Neurology, Nanjing Jiangning Hospital from November 2020 to June 2022 were selected as the research subjects. The global burden of CSVD was scored according to the head MRI findings, and was divided into mild group (0-1 points), moderate group (2 points), and severe group (3-4 points). All patients were tested for spatial navigation function. Multivariate linear regression model was used to analyze the correlation between the global burden of CSVD and the spatial navigation function.Results:A total of 101 patients with CSVD were enrolled, including 37 patients in the mild group (36.6%), 28 in the moderate group (27.7%), and 36 in the severe group (35.6%). Age, glycosylated hemoglobin, total cholesterol, low-density lipoprotein cholesterol and creatinine, as well as the proportions of hypertension, diabetes, previous stroke or transient ischemic attack in the moderate group and the severe group were significantly higher than those in the mild group, while the high-density lipoprotein cholesterol was significantly lower than that in the mild group (all P<0.05). The spatial navigation function test showed that the environment + self-navigation, self-navigation and environment navigation functions of the moderate group and the severe group decreased significantly compared with the mild group (all P<0.05). Multivariate linear regression analysis showed that after adjusting for age, sex, hypertension, previous stroke or transient ischemic attack history and years of education, the global burden of CSVD and environment + self-navigation ( β=0.518, P<0.001), self-navigation ( β=0.481, P<0.001) and environmental navigation ( β=0.699, P<0.001) function had significant correlation. Conclusion:The global burden of CSVD is correlated with spatial navigation functions.

Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.@*METHODS@#We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses.@*RESULTS@#Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb.@*CONCLUSION@#Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.

Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes / 中华医学遗传学杂志

OBJECTIVE@#To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.@*METHODS@#Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.@*RESULTS@#Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.@*CONCLUSION@#NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.

Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies / 中华医学遗传学杂志

OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.

Role of microglia phagocytosis in acute ischemic stroke / 国际脑血管病杂志

Microglia, as an inherent immune cell in the brain, is an important defense line against central nervous system injury and participates in the pathogenesis of ischemic stroke. Especially the phagocytosis of microglia plays an important role in the pathogenesis of ischemic stroke. This article reviews the important role and phagocytic mechanism of microglia in acute ischemic stroke, and focuses on the dual effects of its phagocytic function on nerve injury and recovery after stroke, hoping to provide new targets and strategies for microglia-targeted acute ischemic stroke treatment.

Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication / 中华医学遗传学杂志

OBJECTIVE@#To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region.@*METHODS@#Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed.@*RESULTS@#Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype.@*CONCLUSION@#Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.

Metagenomic analysis of the diversity of microbes in the Napahai plateau wetland and their carbon and nitrogen metabolisms / 生物工程学报

Due to the special geographical location and the complex ecosystem types, plateau wetlands play important ecological roles in water supply, greenhouse gas regulation and biodiversity preservation. Napahai plateau wetland is a special wetland type with low latitude and high altitude, and its microbial diversity was rarely studied. The diversity of microbial communities in the Napahai plateau wetland was analyzed using metagenomics method. Among the microbes detected, 184 phyla, 3 262 genera and 24 260 species belong to the bacterial domain, 13 phyla and 32 genera belong to the archaeal domain, and 13 phyla and 47 genera belong to the fungal domain. Significant differences in species diversity between soil and water were observed. Acidobacteria, Proteobacteria and Actinobacteria were dominant phyla in soil, while Proteobacteria and Bacteroides were dominant phyla in water. Since the carbon and nitrogen metabolism genes were abundant, the pathways of carbon fixation and nitrogen metabolism were analyzed. Calvin cycle, reductive tricarboxylic acid cycle and 3-hydroxypropionic acid cycle were the main carbon fixation pathways, while Proteobacteria, Chloroflexi, and Crenarchaeota were the main carbon-fixing bacteria group. As for the nitrogen cycle, nitrogen fixation and dissimilatory nitrate reduction were dominant in water, while nitrification and denitrification were dominant in soil. Proteobacteria, Nitrospirae, Verrucomicrobia, Actinobacteria, Thaumarchaeota and Euryarchaeota contributed to the nitrogen cycle. The study on microbial diversity of Napahai plateau wetlands provides new knowledge for the comprehensive management and protection of wetland environment in China.

Expression and role of chemokine CCL21 and its receptor CCR7 in ischemic brain white matter lesion / 国际脑血管病杂志

Objective:To investigate the expression and role of chemokine CCL21 and its receptor CCR7 in ischemic brain white matter lesion (WML).Methods:Permanent bilateral common carotid artery occlusion (BCCAo) was used to prepare an ischemic WML model in C57Bl/6 mice. Evans blue perfusion staining was used to assess the permeability of the blood-brain barrier. Immunofluorescence staining was used to detect the expression of CCL21 and its receptor CCR7 in ischemic WML tissues. Cerebral microvascular endothelial cells were subjected to oxygen glucose deprivation (OGD) to prepare ischemic WML model in vitro. The expression level of CCL21 protein after OGD 6 hours and reoxygenation 24 hours was detected by Western blot analysis. Primary cultured oligodendrocyte precursor cells (OPCs) were treated with recombinant CCL21, and then inflammatory reaction was induced by lipopolysaccharide. The mRNA expression level of myelin basic protein (MBP), a marker of mature oligodendrocytes, was detected by quantitative polymerase chain reaction. Results:Compared with the sham operation group, the exudation of Evans blue stain in the brain tissue was significantly increased after BCCAo ( P<0.05), the expression level of CCL21 in cerebral vascular endothelial cells and CCR7 in OPCs was significantly down-regulated ( P<0.05). After cerebral microvascular endothelial cells were subjected to OGD, the expression level of CCL21 protein were significantly down-regulated compared with the control group ( P<0.05). After OPCs were treated with recombinant CCL21, the expression level of MBP mRNA was significantly up-regulated ( P<0.05). Conclusions:The expression of CCL21/CCR7 was significantly down-regulated after WML. The application of recombinant CCL21 may promote the differentiation and maturation of OPCs cells, suggesting that it may play an important role in ischemic WML.

White matter hyperintensities rather than the overall burden of cerebral small vessel disease is correlated with the outcomes in patients with acute ischemic stroke / 国际脑血管病杂志

Objective:To investigate the correlation between white matter hypertensities (WMHs) and the overall burden of cerebral small vessel disease (CSVD) and clinical outcome of patients with acute ischemic stroke.Methods:From November 2018 to June 2019, patients with acute ischemic stroke hospitalized in the Department of Neurology, the Affiliated Jiangning Hospital of Nanjing Medical University were enrolled prospectively. Their demographic and clinical data were collected. The National Institutes of Health Stroke Scale (NIHSS) was used to evaluate the baseline severity of stroke. The total burden of CSVD was evaluated according to the head MRI findings. The severity of WMHs was assessed based on Fazekas scale. The modified Rankin Scale (mRS) was used to evaluate the outcomes at 90 d after onset. The mRS score 0-1 was defined as good outcome, and ≥2 was defined as poor outcome. Multivariate logistic regression analysis was used to determine independent risk factors for poor outcomes. Results:A total of 153 consecutive patients with acute ischemic stroke were enrolled, of which 126 (82.35%) had a good outcome and 27 (17.65%) had a poor outcome. There were significant differences in age, baseline NIHSS score, lipoprotein-associated phospholipase A 2, total Fazekas score, periventricular WMHs score, and deep WMHs score between the two groups, while there was no significant difference in the total burden of CSVD. Multivariate logistic regression analysis revealed that the baseline NIHSS score (odds ratio 1.245, 95% confidence interval 1.023-1.515; P=0.028) and the total Fazekas score (odds ratio 1.635, 95% confidence interval 1.049-2.549; P=0.030) were the independent risk factors for poor outcomes at 90 d after the onset in patients acute ischemic stroke. Conclusions:The overall burden of CSVD is not associated with the short-term outcomes in patients with acute ischemic stroke. WMHs and baseline NIHSS score are the independent risk factors for poor short-term outcomes in patients with acute ischemic stroke.

The value of combined detection of LP-PLA2 and sd-LDL in the auxiliary diagnosis of atherosclerosis / 中华检验医学杂志

Objective To investigate the auxiliary diagnostic value of combined detection serum lipoprotein-associated phospholipase A2 (LP-PLA2) and small and dense low-density lipoprotein (sd-LDL) in atherosclerosis.Methods The subjects were divided into experimental group and control group by random block design from May 2017 to January 2018,in the First Affiliated Yijishan Hospital of Anhui Wannan Medical College.The experimental group selected 125 AS patients with clinical diagnosis and confirmed by angiography,and 55 healthy subjects were chosen as the normal control group at the same time.Serum samples were collected within 24 hours after admission,and the level of LP-PLA2,sdLDL-C,low density lipoprotein cholesterol (LDL-C),triglyceride (TG),total cholesterol (TC) and high-sensitive C reactive protein (hs-CRP) were unified detection.The t test,single factor variance analysis and Mann-Whitney U and multivariate logistic regression analysis were used to analyze the data.Results LP-PLA2,sd-LDL,LDL,TC,TG and hs-CRP of the AS group were all higher than those of the healthy control group (Z=5.279,6.663,6.012,5.863,5.508 and 2.845,respectively,P＜0.05).Logistic regression analysis showed that serum LP-PLA2,sd-LDL and hs-CRP level was an independent risk factor for predicting atherosclerosis (OR=1.008,P=0.003;OR=8.282,P=0.012;OR=1.158,P=0.009).The sensitivity of LP-PLA2,sd-LDL,LDL-C,TC,TG,hs-CRP to AS was detected separately (57.6％,73.6％,85.6％,83.2％,76.8％,80.0％),and the specificity was (89.1％,78.2％,67.3％,69.1％,74.5％,52.7％).The ROC curve showed that the diagnostic efficacy of LP-PLA2 and sd-LDL combined detection was 0.854,higher than sd-LDL,LDL-C,TC,TG,LP-PLA2 and hs-CRP (0.811,0.782,0.775,0.758,0.747 and 0.633,respectively).In addition,the levels of both increased with the aggravation of arteriosclerotic lesion(x2=7.954,P=0.019;x2=11.44,P=0.003).The levels of LP-PLA2 and sd-LDL in patients with AS were not significantly different between different lesions (x2=8.042,P=0.09;x2=5.952,P=0.203).There was no significant difference between serum LP-PLA2 and sd-LDL level and sex,age,smoking,hypertension and diabetes (Z1=0.398,0.719,0.619,0.098 and 1.338 respectively,Z2=0.942,0.027,0.894,0.375,0.783,respectively,both P1 and P2 were＞0.05).Conclusions sd-LDL combined with LP-PLA2 has high sensitivity and specificity in the prediction of AS,which makes up for the deficiency of individual detection;sd-LDL and LP-PLA2 serum level has nothing to do with the lesion and has a positive correlation with the degree of lesions.It is not easily affected by other risk factors and can be used as a risk factor for predicting the occurrence of AS.

High-Voltage-Activated Calcium Channel in the Afferent Pain Pathway: An Important Target of Pain Therapies / 神经科学通报·英文版

High-voltage-activated (HVA) Ca channels are widely expressed in the nervous system. They play an important role in pain conduction by participating in various physiological processes such as synaptic transmission, changes in synaptic plasticity, and neuronal excitability. Available evidence suggests that the HVA channel is an important therapeutic target for pain management. In this review, we summarize the changes in different subtypes of HVA channel during pain and present the currently available evidence from the clinical application of HVA channel blockers. We also review novel drugs in various phases of development. Moreover, we discuss the future prospects of HVA channel blockers in order to promote "bench-to-bedside" translation.

Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia / 中华医学遗传学杂志

OBJECTIVE@#To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area.@*METHODS@#Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Single PCR and two-round nested PCR were utilized to detect HK αα among 507 patients with α3.7/αα and 2 patients for whom electrophoresis showed α3.7, -αSEA and normal α2 alleles. Reverse dot blot test was used for detecting non-deletional α-thalassemia and β-thalassemia variants.@*RESULTS@#Among the 507 patients with α3.7/αα, HK αα was identified in 35 cases, which included 25 HK αα/αα, 5 HK αα/α3.7, 4 HK αα/αα with heterozygous CD41/42 (HBB: c.126_129delCTTT) variant, 1 HK αα/αα with IVS-II-654 (HBB: c.316_197C>T) heterozygous variant. One patient was confirmed to have α3.7/anti4.2 genotype. The two cases with α3.7, -αSEA and normal α2 alleles were confirmed to be HK αα/--SEA. The frequency of HK αα genotype in Fujian area was therefore 7.27% among patients with α3.7 and 0.36% in the general population.@*CONCLUSION@#A certain proportion of HK αα has been detected in Fujian area, which will enable more accurate diagnosis and genetic counseling.

Fructose-1, 6-bisphosphatase inhibits autophagy and proliferation in liver cancer cells / 中华肝脏病杂志

Objective@#To construct the recombinant adenoviral containing fructose 1, 6-biphosphatase 1 (FBP1), and to investigate whether FBP1 has effect on autophagy and proliferation in liver cancer cells (HepG2).@*Methods@#FBP1 cDNA sequence was amplified by PCR and cloned in adenovirus vector pAdTrack-TO4, and then recombinant adenovirus plasmid pAdTrack-FBP1 was constructed. The recombinant adenovirus plasmid was transfected into HEK293 cells by Lipofectamine 3000. High-titer of recombinant adenovirus AdFBP1 was obtained by packaging and amplification. HepG2 cells were infected with recombinant adenovirus AdFBP1, and the Mock and AdGFP group were set at the same time. Western blot and confocal laser scanning microscopy were used to observe the effect of FBP1 on the level of autophagy in hepatocellular carcinoma cells, and the effect of FBP1on the proliferation was observed by MTS and colony formation assay. A t-test and one-way ANOVA were used to compare the mean between group.@*Results@#A high-titer recombinant adenovirus FBP1 was successfully constructed. Western blot and confocal laser scanning microscopy showed that the level of autophagy in AdFBP1 group was significantly lower than that in AdGFP group. Western blot results showed that LC3-II protein expression level in AdGFP was 1.10 ± 0.10 and 0.30 ± 0.01 in AdFBP1 group, F = 90.36, P < 0.01. Confocal laser scanning microscopy analysis showed that the average number of autophages in AdGFP was 28.33 ± 1.53 and 12.33 ± 1.53 in AdFBP1group, F = 97.40, P < 0.01. In addition, the results of colony formation assay and MTS assay showed that the proliferation of liver cancer cells in the AdFBP1 group was significantly inhibited compared with the AdGFP group. The results of colony formation showed that the cell clones in the AdGFP group was 65.66 ± 2.57 and 34.00 ± 2.00 in AdFBP1 group, F = 141.50, P < 0.01. MTS results showed that the absorbance of AdGFP group at 96h was 39.13 ± 2.21 and 30.61 ± 3.33 in AdFBP1 group, F = 7.80, P < 0.05.@*Conclusion@#FBP1 inhibited the autophagy and proliferation in liver cancer cells (HepG2).

De novo NFκB2 gene mutation associated common variable immunodeficiency / 中华儿科杂志

Objective@#To investigate the clinical, immunological, and molecular manifestations of nuclear factor kappa-B subunit 2 (NFκB2) gene mutation associated common variable immunodeficiency (CVID) .@*Methods@#A 14-month-old boy diagnosed with NFκB2-mutated CVID was admitted into Children's Hospital of Chongqing Medical University in December 2015. The clinical manifestations, biochemical tests, immunological function, molecular features, treatment, and follow-up of the patient were analyzed. The Chinese and PUBMED databases were searched with the key words "NFκB2" and "immune deficiency" and related literatures were reviewed.@*Results@#The patient had 4 episodes of pneumonias and one otitis media since the age of 6 months. The serum immunoglobulin levels were IgG 2.73 g/L, IgA<0.07 g/L, and IgM 0.12 g/L. The percentage of peripheral lymphocyte subsets demonstrated increased CD3+T lymphocyte (81.8%), increased CD4+ naïve T cell (39.1%), normal B cell (14.1%), low switched memory B and plasmablast B (respectively 0.1% and 0), and lightly diminished natural killer(NK) cell (4.13%). Within the peripheral CD4+T cells, the percentage of regulatory T cells (1.49% (control 4.08%)), T follicular helper (3.66% (control 11.0%)), and T helper 17 (9.65% (control 15.7%)) were decreased, while the percentage of T helper 2 (60.9% (control 46.5%)) was elevated. T lymphocyte proliferative response and T cell receptor repertoire diversity were normal. NK-cell cytotoxic activity was impaired. The whole-exome sequencing harbored a de novo heterozygous nonsense mutation in exon 22 (c.2557C>T; p. Arg853X) in the C-terminus of NF-κB2. The western blotting confirmed the decreased expression of NF-κB2 (p52) protein. The patient received intravenous immunoglobulin infusion monthly (400-600 mg/kg), followed by improvement of pulmonary infection. After searching the databases, a total of 28 cases (1 Chinese and 27 non-Chinese) were identified. There were 12 cases of nonsense mutation (5 were gain-of-function mutation), and 8 cases of missense and frameshift mutations, respectively. The main clinical manifestation was respiratory infection, followed by autoimmune diseases such as alopecia and trachyonychia. Fifteen cases developed adrenocorticotrophic hormone (ACTH) deficiency.@*Conclusions@#NF-κB2 signaling pathway played an important role in T and B lymphocyte differentiation, and NK-cell cytotoxic activity. NFκB2 mutation should be considered in cases with recurrent infections, hypogammaglobulinemia, and decreased memory B cells and plasma cells, especially when combined with ACTH deficiency.