Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variants in a patient with adult ceroid lipofuscinosis neuronal type 7 (ACLN7).@*METHODS@#A female patient diagnosed with ACLN7 in Henan Provincial People's Hospital in June 2021 was selected as the study subject. Clinical data, auxiliary examination and result of genetic testing were retrospectively analyzed.@*RESULTS@#The patient, a 39-year-old female, has mainly presented progressive visual loss, epilepsy, cerebellar ataxia and mild cognitive decline. Neuroimaging analysis has revealed generalized brain atrophy, prominently cerebellum. Fundus photography has revealed retinitis pigmentosa. Ultrastructural skin examination has revealed granular lipofuscin deposits in the periglandular interstitial cells. Whole exome sequencing revealed that she has harbored compound heterozygous variants of the MSFD8 gene, namely c.1444C>T (p.R482*) and c.104G>A (p.R35Q). Among these, c.1444C>T (p.R482*) was a well established pathogenic variant, while c.104G>A (p.R35Q) was a missense variant unreported previously. Sanger sequencing confirmed that the daughter, son and elder brother of the proband have respectively carried heterozygous c.1444C>T (p.R482*), c.104G>A (p.R35Q), and c.104G>A (p.R35Q) variants of the same gene. The family has therefore fit with the autosomal recessive inheritance pattern of the CLN7.@*CONCLUSION@#Compared with previously reported cases, this patient has the latest onset of the disease with a non-lethal phenotype. Her clinical features have involved multiple systems. Cerebellar atrophy and fundus photography may be indicative of the diagnosis. The c.1444C>T (p.R482*) and c.104G>A (p.R35Q) compound heterozygous variants of the MFSD8 gene probably underlay the pathogenesis in this patient.

Impact of interaction between NLRP3, TLR4 gene polymorphisms and triglyceride-glucose index on gout / 中华内分泌代谢杂志

Objective:To explore the effect of triglyceride glucose(TyG) index, single nucleotide polymorphism of Toll-like receptor 4(TLR4) and NOD-like receptor thermal protein domain associated protein 3(NLRP3) genes, and its interaction on the risk of gout.Methods:A total of 315 male patients with gout and 499 men for health checkup at the same period were selected. General data were collected through questionnaires, and peripheral venous blood was collected for biochemical test. Three single nucleotide polymorphisms(SNPs) of NLRP3 and TLR4 were detected with multiplex ligase assay reaction, and logistic regression analysis was applied to compare the correlation between NLRP3 and TLR4 alleles and gout risk. The interaction of SNP and TyG index with gout was analyzed by generalized multi-factor dimensionality reduction(GMDR) model and logistic regression.Results:After adjusting for smoking, drinking, and other factors, the risk of gout increased by 61.1% for each standard deviation increase in TyG index. CC genotypes of rs10754558, rs10759932, and rs7525979 were high risk genotypes of gout in Han ethnicity. GMDR results showed significant differences in the interaction models of rs10754558-TyG index, rs7525979-TyG index, and rs10759932-TyG index between control group and gout group( P<0.05), suggesting an interaction between the three genotypes of SNPs selected and TyG index. Stratified analysis of the three selected SNPs and TyG index showed that after adjusting for age, smoking, and other factors, the high TyG index patients carrying C/C or C/G genotype at rs10754558 displayed an increased risk of gout compared with those carrying GG genotype and low TyG index( OR=2.127, P<0.05). Conclusion:The CC genotypes of rs10754558, rs10759932, and rs7525979 are high risk genotypes for gout in Han ethnicity. The interaction between rs10754558 and TyG index may increase the risk of gout development.

Construction and validation of a Nomogram-based prediction model for the risk of gout in men / 中华内分泌代谢杂志

Objective:To investigate the risk factors of gout and establish a columnar graph model to predict the risk of gout development.Methods:A total of 1 032 Han Chinese men attending the Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University, People′s Hospital of Xinjiang Uygur Autonomous Region, and the First Affiliated Hospital of Xinjiang Medical University from 2018 to 2020 were selected as study subjects and divided into training set(722 cases)and validation set(310 cases)by simple random sampling method in the ratio of 7∶3. General information and biochemical indices of the subjects were collected. The collected information was used to assess the risk of gout prevalence. LASSO regression analysis of R Studio software was used to screen the best predictors, and was introduced to construct a column line graph model for predicting gout risk using receiver operating characteristic(ROC)curves, and the Hosmer-Lemeshow test was used to assess the discrimination and calibration of the column line graph model. Finally, decision curve analysis(DCA)was performed using the rmda program package to assess the clinical utility of the model in validation data.Results:Age, uric acid, body mass index, total cholesterol, and waist-to-hip ratio were risk factors for gout( P<0.05). The column line graph prediction model based on the above five independent risk factors had good discrimination(AUC value: 0.923 for training set validation and 0.922 for validation set validation)and accuracy(Hosmer-Lemeshow test: P>0.05 for validation set validation); decision curve analysis showed that the prediction model curve had clinical practical value. Conclusion:The nomogram model established by combining age, uric acid, body mass index, total cholesterol, and waist-to-hip ratio indicators can predict the risk of gout more accurately.

Effect of parent-child cooperative music therapy on children with autism spectrum disorder and their mothers: a prospective randomized controlled study / 中国当代儿科杂志

OBJECTIVES@#To study the effect of parent-child cooperative music therapy on the core symptoms of children with autism spectrum disorder (ASD) and their mothers.@*METHODS@#In this prospective study, 112 children with ASD and their mothers were divided into a music therapy group and an applied behavior analysis (ABA) group using a random number table (n=56 each). The children in the ABA group were treated with ABA, and those in the music therapy group were given parent-child cooperative music therapy in addition to the ABA treatment. The duration of intervention was 8 weeks for both groups. Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC), Parenting Stress Index-Short form (PSI-SF), Family APGAR Index, and Herth Hope Index (HHI) were used to evaluate the core symptoms of children with ASD and the parenting stress, family APGAR index, and hope level of mothers before and after intervention.@*RESULTS@#A total of 100 child-mother dyads completed the whole study, with 50 child-mother dyads in each group. After intervention, the children in the music therapy group had significantly lower total score of ABC scale and scores of sensation, social interaction, and somatic movement, as well as a significantly lower total score of CARS than those in the ABA group (P<0.05). After intervention, compared with the mothers in the ABA group, the mothers in the music therapy group had significantly higher total score of PSI-SF and score of parent-child dysfunctional interaction, significantly higher total score of HHI and scores of each dimension, and significantly higher total score of APGAR and scores of cooperation and intimacy (P<0.05).@*CONCLUSIONS@#Parent-child cooperative music therapy combined with ABA can alleviate the core symptoms of children with ASD, reduce the parenting stress of their mothers, and improve family APGAR index and hope level.

Research of proliferation inhibition and apoptosis promotion mechanism of brusatol on H1299 cells / 中国药理学通报

Aim To preliminarily investigate the effect of brusatol(BRU), the monomer components fromChinese medicines on H1299 cells and its mechanisms.Methods CCK-8 and EdU staining experiment were used to detect the effect of BRU on cell prolifera-tion.Clone formation experiment was performed to measure the effect of drugs on cell clone formation.Hoechst33258 staining experiment and flow cytometry were employed to observe the cell apoptosis.Western blot assay was used to detect the protein expression levels of Bcl-xL, Bax, Bcl-2, cleaved-caspase-3, caspase-3, Gadd45α, PI3K, p-PI3K, Akt, p-Akt and NF-κB-p65.Results CCK-8 assay revealed that the inhibitory effect of H1299 cells gradually increased with the rising of BRU concentration and action time.Compared with control group, the EdU incorporation rate of the BRU treatment group decreased significantly.Treated with different concentrations of BRU for 24 h, the clone formation rate was significantly reduced in a concentration-dependent manner.Hoechst33258 experiment and flow cytometry showed that BRU could induce apoptosis in H1299 cell nucleus and increase its apoptotic rate.Western blot results revealed that BRU could significantly up-regulate the protein levels of Bax, cleaved-caspase-3, Gadd45α, and significantly down-regulate the expression of Bcl-xL, Bcl-2, caspase-3.In addition, BRU could significantly decrease the expression level of p-PI3K, p-Akt, NF-κB-p65 in cell nucleus.Conclusions BRU can inhibit the proliferation and induce apoptosis of H1299 cells in a concentration and time-dependent manner.The mechanism may be related to the inhibition of PI3K/Akt signaling pathway and the nuclear shuttle of NF-κB-p65.

Correlation analysis of gout with body mass index and waist-hip ratio / 中国热带医学

@#Abstract: Objective　To explore the relationship between body mass index (BMI), waist-hip ratio (WHR) and the risk of gout in Urumqi. Methods　A total of 516 male patients with gout in a third-class hospital in Urumqi from 2015 to 2019 were randomly selected as the gout group and 516 male healthy subjects in the same hospital as the control group. The relevant blood biochemical indexes were examined and analyzed. Blood pressure, waist circumference and hip circumference were measured. Body mass index and waist-to-hip ratio were calculated. Logistic regression model was used to analyze the relationship between overweight / obesity, waist-to-hip ratio and the risk of gout. The test level is α = 0.05. Results　Uric acid, glucose, urea nitrogen, creatinine, triglyceride, low-density lipoprotein, systolic blood pressure, weight and waist circumference in gout group were higher than those in control group, and the differences were statistically significant (P<0.05); There were no significant differences in age, height and diastolic blood pressure between the two groups (P<0.05). There was a positive correlation between BMI and WHR and the occurrence of gout (r=0.272, 0.345, P<0.05). There were significant differences in BMI, WHR and waist circumference between the gout group and the control group（χ2= 55.338, 54.928, 54.153, P<0.05）. After adjusting for age, aerobic exercise and other confounding factors, the results of multi-factor unconditional Logistic regression analysis showed that the odds ratio (OR) of gout in patients with BMI of 24.00-27.99 kg/m2 and ≥28.00 kg/m2 was 2.005 (1.337-3.006) and 2.677 (1.668-4.296) times higher than that of patients with normal BMI, respectively. The OR value of gout in patients with WHR≥0.90 was 1.668 times higher than that in patients with normal WHR, and the difference was statistically significant. The results of subgroup analysis according to age are generally similar. Conclusions　The BMI and WHR of man with gout in Urumqi are higher than those of normal people, and BMI, waist circumference and WHR are all associated with the incidence of gout. The risk of gout increases with the increase of BMI and WHR.

A Chinese pedigree of familial encephalopathy with neuroserpin inclusions bodies / 中华神经科杂志

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

Comparative study on the effects of total ginkgo flavonol glycosides and total ginkgolides on neurofunctional recovery in mice with subacute stroke / 药学学报

As a Ginkgo biloba extract preparation, shuxuening injection has a unique advantage in the prevention and treatment of acute and subacute stroke, but its main active ingredient is still unclear. Using a subacute model of stroke in mice constructed earlier, we further explored the contribution and mechanism of the two main components of total ginkgo flavonol glycosides and total ginkgolides in facilitating the neurofunctional recovery in stroke-induced mice. The pharmacodynamics was mainly evaluated by neurobehavioral changes, cerebral infarction volume, blood-brain barrier permeability and brain edema. The pathway and targets were predicted by transcriptome and network pharmacology. Finally, the mechanism was verified at the mRNA and protein levels. The results showed that the beneficial effect of total ginkgolides was greater than that of total ginkgo flavonol glycosides in both the pharmacodynamics and the regulatory mechanism of granulocyte adhesion and diapedesis involving granulocyte colony-stimulating factor (G-CSF), macrophage-1 antigen (MAC-1) and E-selectin. These findings suggest that shuxuening injection may improve the prognosis for mice with subacute stroke by down-regulating G-CSF-mediated granulocyte adhesion and diapedesis pathway mainly through the total ginkgolide components. This finding is expected to provide reference for optimizing prescription and searching for natural drugs for targeting the treatment of ischemic stroke prognosis. The animal experiments in this study followed the regulations of Animal Ethics Committee of Tianjin University of Traditional Chinese Medicine.

Effects of parent-child painting and creative crafting therapy on preschool children with autism spectrum disorder and their mothers: a prospective randomized controlled trial / 中国当代儿科杂志

OBJECTIVES@#To study the effects of parent-child painting and creative crafting therapy on the core symptoms of preschool children with mild-to-moderate autism spectrum disorder (ASD) and the parenting stress and hope level of their mothers.@*METHODS@#A total of 56 preschool children with mild-to-moderate ASD and their mothers were divided into an experimental group and a control group using the block randomization method, with 28 pairs in each group. The subjects in the control group received an applied behavior analytic intervention and those in the experimental group received parent-child painting and creative crafting therapy in addition to the intervention in the control group. The intervention time was 20 weeks for both groups. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Parenting Stress Index-Short Form (PSI-SF), and Herth Hope Index (HHI) were used to evaluate the core symptoms of children and the parenting stress and hope level of their mothers before and after 20 weeks of intervention.@*RESULTS@#Forty-nine child-mother pairs completed the study (25 pairs in the intervention group and 24 pairs in the control group). The children in the experimental group had significantly lower scores of social interaction, language, social communication, and social motivation and total scores of ABC and SRS compared with those in the control group (@*CONCLUSIONS@#The combination of applied behavior analytic intervention with parent-child painting and creative crafting therapy can more effectively improve the core symptoms and social interaction of preschool children with mild-to-moderate ASD, reduce the parenting stress of mothers and improve their hope level.

Expressions and Significance of PDCD4 and Autophagy-related Factors LC3Ⅱ and p62 in Endoscopic Submucosal Dissection Specimens of Early Colorectal Cancer / 胃肠病学

Background: Endoscopic submucosal dissection (ESD) has become the preferred treatment of early colorectal cancer. PDCD4 and autophagy have important clinical significance in the pathogenesis of colorectal cancer. Aims: To explore the expressions and significance of apoptosis factor PDCD4 and autophagy factors LC3Ⅱ and p62 in colorectal cancer. Methods: Fifty-four early colorectal adenocarcinoma patients treated by ESD from Jan. 2015 to Nov. 2020 at Binzhou Medical University Hospital were collected. The expressions of PDCD4, LC3Ⅱ and p62 were detected by immunohistochemistry, and the correlations with clinicopathological factors were analyzed. The differential expression of PDCD4 in pan-cancer was analyzed by bioinformatics analysis. Results: Expression of PDCD4 was associated with the long-diameter of paracancer adenoma (P<0.05), and expressions of LC3Ⅱ and p62 were associated with the long-diameters of adenocarcinoma and paracancer adenoma (P<0.05). The positive expression of PDCD4 in P-NIMM was located in the nucleus, while the positive expression in adenocarcinoma was located in cytoplasm. The nucleus/cytoplasm ratio of PDCD4 was significantly higher in P-NIMM than in P-LGIN, P-HGIN and adenocarcinoma (P<0.05), and the nucleus/cytoplasm ratio of PDCD4 was significantly higher in P-LGIN, P-HGIN than in adenocarcinoma (P<0.05). The positive expression rates of LC3Ⅱ and p62 were significantly higher in adenocarcinoma than in P-NIMM and P-LGIN (P<0.05). In P-LGIN, P-HGIN and adenocarcinoma, the expression of PDCD4 was negatively correlated with the expressions of LC3Ⅱ and p62 (P<0.05). The bioinformatics analysis showed that expression of PDCD4 was significantly reduced in a variety of malignant tumors including colorectal cancer (P<0.05). Conclusions: The inhibition of apoptosis and activation of autophagy may promote the occurrence of colorectal cancer, and its mechanism may be related to the intracellular transposition of PDCD4 that inhibits cell apoptosis and enhances autophagy, and activating cellular autophagy may further accelerate the degradation of PDCD4 and thus reducing its cancer inhibiting effect.

Homoharringtonine activates ATM/p53 pathway to inhibit proliferation of human liver cancer cell PLCS / 中国药理学通报

Aim To explore the effect of homoharringtonine (HHT) on the prohferation of liver cancer cell PLCS and its possible mechanism. Methods CCK-8 and EdU were used to detect the effect of HHT on the proliferation of PLCS cells; flow cytometry was employed to assess the effect of HHT on cell cycle of PLCS; Western blot was applied to measure the expression levels of cycle-related proteins cyclinA, CDK 2, p 2 1, p53 and A T M. Results Treated with HHT (0, 5, 10, 20, 40, 80 • L

Research progress of mitochondria as target of traditional Chinese medicines in treatment of heart failure / 中国中药杂志

As the final destination of various cardiovascular abnormalities, heart failure is one of the diseases with the highest morbidity and mortality in the world. Due to its complicated pathogenesis, people urgently need to find new targets and effective treatment. Imbalance in myocardial energy metabolism, an important molecular biological basis for heart failure, affects the contractile and diastolic functions of the heart. As the main source of energy synthesis in cardiomyocytes and an important participant in various signaling pathways, mitochondria plays an indispensable role in the process of cell survival and death and has been considered as a critical target for the treatment of heart failure. Traditional Chinese medicine has a great effect on the treatment of heart failure through multi-components, multi-targets, and multi-channels. In recent years, more and more researches regard mitochondria as the target of traditional Chinese medicine in the treatment of heart failure, and have achieved significant results in improving mitochondrial function, increasing energy metabolism and energy supplement for cardiomyocytes, and resisting against oxidative stress. In this article, researches on the regulation of mitochondria in the treatment of heart failure by traditional Chinese medicine are reviewed from four aspects: mitochondrial biogenesis; mitochondrial electron transport chain and reactive oxygen species(ROS) production; metabolic substrates and metabolic enzymes; and calcium ion transport in the mitochondria. It provides a basis for further research and clinical application in the future.

Current status and future of non-genomic effects of phytoestrogens / 药学学报

Phytoestrogens exhibit various pharmacological estrogen-like effects, such as in the prevention and treatment of osteoporosis, cardiovascular diseases, tumors, etc., but the specific mechanism is still unclear. In recent years, estrogen receptor alpha-mediated rapid non-genomic effects have been identified to play an important role in the pathogenesis of estrogen-related diseases. The research of phytoestrogens exerting pharmacological effects through non-genomic effects has also received increasing attention. This article summarizes the research progress in estrogen receptor alpha-mediated non-genomic effects and analyzes the possible involvement of rapid non-genomic effects in certain pharmacological effects of phytoestrogens. The future prospects of estrogen receptor-mediated non-genomic effects by phytoestrogens are also discussed.

Effect of target systolic blood pressure on cardiovascular events in patients with hypertension complicated with type 2 diabetes / 中国实用护理杂志

Objective To compare the effects of target systolic blood pressure on cardiovascular events in patients with hypertension and type 2 diabetes after antihypertensive drugs. Methods This study was a retrospective cohort study. Randomly selected from March 2014 to March 2017, 1563 patients with hypertension and type 2 diabetes diagnosed in the Department of Cardiology of the Tiemei Group General Hospital. There was no cardiovascular complications at admission. After admission, the population variables of each patient were recorded. Each patient was adjusted for blood pressure and blood glucose according to the doctor's advice after admission. After the hospital was discharged, the patient was followed up for blood pressure every week. The follow-up was 3-4 months. The average systolic blood pressure of each patient was recorded as the target systolic pressure. The patients who were followed up were divided into three groups according to the target systolic pressure value, namely ≤120 mmHg(1 mmHg=0.133 kPa) group,>120-130 mmHg group,>130-140 mmHg group. After that, it was changed to a weekly telephone follow-up of the nurses for a total of 3 years. The cardiovascular disease (CVD) occurred in these patients within 3 years were recorded. The CVD was used as the dependent variable, and the systolic blood pressure of each group was used as the independent variable to do COX. Proportional risk regression analysis, the hazard ratio (HR) of each group of concurrent CVD. Taking CVD as the dependent variable, HR of CVD with >130-140 mmHg group was taken as the reference value, and all population variables were used as independent variables, respectively, ≤120 mmHg group,>120-130 mmHg group and>130-140 mmHg group combined with CVD risk ratio. Results During the 3-year follow-up period, 1401 patients with blood pressure met: 104 patients with systolic blood pressure ≤120 mmHg, 543 patients with >120-130 mmHg, and 754 patients with >130-140 mmHg. The incidence of CVD in the three groups was 14.4％(15/104), 8.8％(48/543), 7.0％(53/754). HR of CVD were 1.66, 0.96, 0.53 in≤120 mmHg group,>120- 130 mmHg group,>130-140 mmHg group .Compared with >130-140 mmHg group, the risk ratio of CVD in all subgroups of≤120 mmHg group was statistically increased (HR>1, P<0.05). Compared with >130-140 mmHg, >120-130 mmHg group with 65-79 years old, combined with more than 3 groups of antihypertensive drugs, patients with diuretics showed a statistically significant increase in the risk ratio of CVD (HR>1, P <0.05). Conclusions The target systolic blood pressure of patients with hypertension and type 2 diabetes should be >130-140 mmHg. For patients aged 65-79 years, more than 3 groups of antihypertensive drugs are used. Patients with diuretics should have a target systolic blood pressure of >130-140 mmHg.

Application prospect of organoids and 3D-cell models in evaluation of cardiotoxicity of traditional Chinese medicine / 药学学报

Cardiotoxicity is one of the main causes of failure in new drug development or drug withdrawal from the market. However, current methods for evaluation of drug cardiotoxicity suffer the shortcomings such as low clinical relevance, low reproducibility and lack of high throughput screening capacity. Therefore, there is an urgent need for establishing more accurate and reliable methods for cardiotoxicity evaluation of drugs. As a new generation of drug cardiotoxicity evaluation, cardiac organs in culture retain the biological characteristics and functions of heart cells in the body, and can realistically and accurately respond to the effects of drugs. This article reviews recent progress of in vitro culture of cardiac organs and 3D-cell models, with focuses on application and development potential of cardiac organs for evaluation of cardiotoxicity of traditional Chinese medicine. The advantage and future prospective of such cell- and organ-based models for unique challenges in evaluation of cardiotoxicity of traditional Chinese medicine have been discussed.

Relationships of Raptor and Rictor expression with angiogenesis in colorectal cancer and their clinical significance / 临床与实验病理学杂志

Purpose To detect the expression of Raptor,Rictor,angiogenesis-related factors HIF-lα,HIF-2α and VEGF and to investigate their relationship and significance in eolorectal cancer (CRC).Methods Immunohistochemistry,Western blot and RT-PCR were employed to detect the expression of Raptor,Rictor,HIF-lα,HIF-2α and VEGF in 120 cases of CRC and 60 cases of normal colorectal mucosa.CD34 labeled microvascular density (MVD) was also observed.The correlations between Raptor,Rictor,HIF-1α,HIF-2c,VEGF expression and the patients' clinicopathological features were analyzed.Results The positive rates of Raptor,Rictor,HIF-1c,HIF-2α and VEGF in CRC were significantly higher than those in normal colorectal mucosa (P ＜ 0.05).Raptor and Rictor expression was correlated with the degree of tumor diffcrentiation and lymph node metastasis,respectively.The expression of HIF-1α,HIF2α and VEGF was higher in patients with lymph node metastasis than those in patients without lymph node metastasis (P ＜0.05).The MVD was higher in patients with Raptor or Rictor positive than that in patients with Raptor or Rictor negative (P ＜0.05).The expression of Raptor was positively correlated with HIF-1α and VEGF (P ＜ 0.01),the expression of Rictor was positively correlated with HIF-2o and VEGF (P ＜ 0.01),but the expression of Raptor was negatively correlated with Rictor (P＜0.01).Conclusion The expression of mTOR core molecules Raptor and Rictor is related to the initiation and development of colorectal cancer and angiogenesis,and they promote angiogenesis in colorectal cancer by different ways.

Beclin1, LC3 and mTOR expression in esophageal squamous cell canceration and its clinical significance / 临床与实验病理学杂志

Purpose To investigate the difference of expression of autophagy-related gene (Beclin1,LC3,mTOR) in the development of esophageal squamous cell cancer.Methods Immunohistochemical EnVision method was adopted to detect the expression of autophagy-related gene Beclinl,LC3 and mTOR in 30 cases of normal esophageal mucosa,32 cases of low-grade intraepithelial neoplasia (LGIN),34 cases of highgrade intraepithelial neoplasia (HGIN),35 cases of early carcinoma and 126 cases of advanced esophageal carcinoma,respectively.The correlation between their expression with clinicopathologic factors was also analysed.Results The expression of Beclin1 in advanced esophageal carcinoma was obviously higher than that in another four groups (P ＜ 0.005).LC3 expression in advanced esophageal carcinoma was significantly higher than that in normal esophageal mucosa,LGIN and early carcinoma (P ＜ 0.005).The expression of mTOR in advanced esophageal carcinoma was significantly higher than that in normal esophageal mucosa,LGIN and HGIN (P ＜ 0.005).In advanced esophageal carcinoma group,the expression of Beclin1,LC3 and mTOR was related to tumor TNM stage and lymph node metastasis (P ＜ 0.05).Beclin1 expression was positively associated with LC3 and mTOR expression in advanced squamous cell carcinoma (P ＜ 0.05).Positive correlation was also observed between the expression of mTOR and LC3 in advanced esophageal carcinoma and HGIN (P ＜ 0.05).Conclusion In the carcinogenesis and development of esophageal cancer,Beclin1,as a tumor suppressor gene,activates autophagy and leads to excessive self consumption and death of tumor cells.mTOR promotes tumor growth by inhibiting autophagy and promoting angiogenesis.The combined detection of Beclinl,LC3 and mTOR may be beneficial to evaluate the progression and prognosis of esophageal squamous cell cancer.

Distribution of HPV infection in laryngopharyngeal squamous cell carcinoma and laryngeal papilloma / 医学研究生学报

Objective Human papillomavirus (HPV) is presumed to be the cause of the development of head and neck squamous cell carcinoma.However,the current research results are not very sure.The article was designed to study the distribution of HPV infection in the tissues of laryngopharyngeal squamous cell carcinoma and laryngeal papilloma and its significance.Methods We collected samples of tissues from 67 patients who were treated in our hospital,including 41 cases of laryngeal papilloma,26 cases with laryngeal carcinoma,hypopharyngeal carcinoma,and oropharyngeal carcinoma.In the same period,20 cases of benign vocal cord polyps were treated as control group.PCR was applied in HPV typing test of fresh tumor tissues from operations,followed by the analysis on HPV infection type and distribution.Results In research group,44/67 cases was HPV-positive (65.7％),among which the HPV types of the laryngeal papilloma were HPVll (36/41) and HPV6 (4/41),and HPVI6 (6/26) in laryngeal carcinoma,hypopharyngeal carcinoma,and oropharyngeal carcinoma.While in control group,vocal cord polyps were HPV-negative without any multitype infection.Conclusion HPV16 may be a risk factor for the occurrence of laryngeal cancer and oropharyngeal cancer (non-alcoholic-induced or non-tobacco-induced cancer).HPV has high prevalence in Chinese laryngeal papilloma people,but HPV has low prevalence in Chinese laryngeal or hypopharyngeal carcinoma people.HPV testing of head and neck cancer is worth promoting.

The identification of human microRNA335′s predicated target gene CCL1 1,CCL26 and SOX4 / 重庆医学

Objective To identify the targeted-regulating relationship between human MicroRNA335 (hsa-miR-335 )and CCL1 1,CCL26 and SOX4.Methods The potential fragments of hsa-miR-335 target genes CCL1 1,CCL26 and SOX4 were predicted by the bioinformatics analyzing tools online.The 3′untranslated regions(3′UTR)of the CCL1 1,CCL26 and SOX4 were connected to the eukaryotic expression vectors pMIR REPORT.The constructs of pMIR-REPORT-CCL1 13′UTR,pMIR-REPORT-CCL26 3′UTR,pMIR-REPORT-SOX4 3′UTR and positive control were co-transfected with Pre-miRTM miRNA335 Precursor or negative control into 293 T7/1 7 cell line by lipofectamine 2000,respectively.Both Firefly and Renilla luciferase activity were detected by dual luciferase reporter assay system.Results Compared with the negative control group,luciferase assay revealed that has-miR-335 could significantly diminish luciferase activity from SOX4 reporter vector (P 0.05).Conclusion The results suggested that hsa-miR-335 targeted regu-lated SOX4,but not targeted CCL1 1 and CCL26.

Clinical effects of auditory integrative training on children with spastic cerebral palsy / 中华实用儿科临床杂志

Objective To investigate the short-term treatment effectiveness of the auditory integrative training(AIT) on intelligence, language and gross motor function in children with spastic cerebral palsy (CP).Methods Sixty patients with spastic CP, aged 2 to 4 years old,who had been given all the routine conventional rehabilitation at the Rehabilitation Department of the People's Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2013 were randomly divided into AIT treatment group (30 cases) and control group without AIT (30 cases), all patients were investigated by using Gesell Developmental Scales and the Gross Motor Function Measure (GMFM)-66 before and after 3-month therapy, and the changes in the regional cerebral blood flow of children (rCBF) were detected by single photon emission computed tomography (SPECT) before and after treatment.Results The scores of development quotient (DQ) of the treatment group after the AIT in areas of adaptive behavior, personal-social behavior,language(52.44 ± 13.43,52.07 ± 11.57,57.19 ± 6.18) were higher than those of the control group (45.09 ± 11.02,45.86 ± 9.66,53.44 ± 5.49), and the differences between the 2 groups were greatly significant statistically(t =-2.32,-2.26,-2.49, all P ＜ 0.05).There were no significant difference in DQ of gross motor, fine motor and scores on the GMFM-66 in the treatment group before and after treatment [40.40 ± 8.57,49.50 ± 14.20, (55.81 ±8.72) scores vs 44.03 ±11.90,46.34±9.78,(58.81 ±7.86) scores,t=-1.42,1.08,-0.52,all P＞ 0.05].SPECT detected abnormalities in all patients (100.00％) both in the 2 groups, compared with the control group,the rCBF was improved significantly after treatment in the treatment group (86.67％) (x2 =35.49 ,P ＜ 0.05).Conclusions The treatment of AIT can greatly improve the intelligence, language development and the brain function in children with spastic CP.It is an effective adjutant of rehabilitation method for children with spastic CP to improve intelligence and language development, and has less influence on motor function.