The cases of twins with sialidosis type 1 / 中华神经科杂志

Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33. It is characterized by myoclonic, ataxia, epilepsy, and decreased vision. A pair of twins with sialidosis type 1 are reported to enrich clinicians ′ understanding of the disease, so as to improve the diagnosis and treatment. The proband was a 16-year-old male. The main symptom was intermittent limb involuntary trembling for 2 years, with paroxysmal loss of consciousness. Fundus examination showed cherry-red spots. His twin brother had similar symptoms, but the overall performance was mild. Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T (p.P80L) and c.803A>G (p.Y268C) in NEU1 gene, which were from their normal phenotype mother and father.

Neurodevelopmental outcomes and risk factors of premature infants at corrected gestational age 18~24 months / 中国新生儿科杂志

Objective:To study the neurodevelopmental outcomes and risk factors of premature infants with gestational age (GA) <34 weeks.Methods:From June 2016 to June 2018, premature infants with GA<34 weeks admitted to the Neonatology Department of our hospital were retrospectively reviewed. Bayley Scales of Infant DevelopmentⅡwas used to assess the neurodevelopmental outcomes at corrected GA 18~24 months. The incidence of neurodevelopmental impairment (NDI) was determined. Mental developmental index (MDI) and psychomotor developmental index (PDI) were calculated. The infants were assigned into three groups according to their MDI and PDI scores:≥85 group, 70~84 group and <70 group. Risk factors of low MDI and PDI scores were analyzed.Results:A total of 202 premature infants with GA<34 weeks were included, including 131 males (64.9%) and 71 females (35.1%). 91 cases (45.0%) developed NDI, including 77 mild NDI (38.1%) and 14 severe NDI (6.9%). Univariate analysis found that the incidences of severe asphyxia, multiple births, Grad≥3 ROP and endotracheal intubation in the MDI<70 group were higher. At corrected GA 40 weeks, 3, 6, 12 months, MDI<70 group showed less cases of head circumference >-2SD. PDI<70 group had higher incidences of intrauterine distress, maternal gestational hypertension, multiple birth, Grade 3~4 RDS, Grade 3~4 germinal matrix-intraventricular hemorrhage and tracheal intubation ( P<0.05). Logistic regression showed gestational hypertension, history of tracheal intubation and invasive ventilation were the risk factors for low PDI score ( OR=9.176, 4.547 and 3.227, P<0.05). The head circumference >-2SD at corrected age 6m was protective factor for low MDI and PDI scores ( OR=0.063 and 0.041, P<0.001). Conclusions:Preterm infants with GA<34 weeks are likely to develop severe NDI. Avoiding unnecessary tracheal intubation and invasive ventilation and improving gestational hypertension management may be beneficial to the neurodevelopmental outcomes of preterm infants.

Blood glucose fluctuation and risk factors in type 2 diabetic patients with asymptomatic hypoglycemia / 中华内分泌代谢杂志

Objective:To investigate the characteristics of blood glucose fluctuation and risk factors in type 2 diabetic patients with asymptomatic hypoglycemia.Methods:From September 2018 to July 2021, 342 patients with type 2 diabete mellitus who were hospitalized in the Department of Endocrinology of Hefei Hospital Affilitated to Anhui Medical University were enrolled for a retrospective study. The mean amplitude of glycemic excursions(MAGE), coefficient of variation (CV), 24 hour mean blood glucose level (MG), and time in range (TIR) were obtained by continuous glucose monitoring (CGM). According to the results of CGM and whether the patients have hypoglycemia symptoms, they were divided into three groups: no hypoglycemia group, symptomatic hypoglycemia group, and asymptomatic hypoglycemia group. The differences in blood glucose fluctuations were compared among the three groups. Multivariate logistic regression analysis was used to evaluate the risk factors in type 2 diabete mellitus patients with asymptomatic hypoglycemia. The predictive value of MAGE for asymptomatic hypoglycemia was analyzed by receiver operating characteristic (ROC) curve.Results:Compared with the non-hypoglycemia group, the TIR in asymptomatic hypoglycemia group was higher ( Z=-2.042, P=0.041). The asymptomatic hypoglycemia group had lower MG, higher MAGE and CV compared with the other two groups(all P<0.05). Multivariate logistic regression analysis showed that urinary albumin/creatinine ratio (UACR), MAGE, and CV were the risk factors for asymptomatic hypoglycemia, while MG was the protective factor. After adjustment for other risk factors, MAGE was still associated with asymptomatic hypoglycemia ( OR=1.111, 95% CI 0.999-1.235, P=0.049). The sensitivity and specificity of MAGE in predicting asymptomatic hypoglycemia were 0.769 and 0.776, respectively. Conclusions:Patients with asymptomatic hypoglycemia present with larger TIR and MAGE. MAGE, UACR, and CV were risk factors for asymptomatic hypoglycemia. Moreover, MAGE has some predictive value for the occurrence of asymptomatic hypoglycemia.

Expression of microRNA-21 in multiple myeloma patients and its clinical significances / 白血病·淋巴瘤

Objective:To investigate the expression of miRNA-21 in serum of patients with multiple myeloma (MM) and its significance.Methods:The data of 55 MM patients and 20 healthy controls in the Second Hospital of Hebei Medical University from July 2019 to June 2020 were retrospectively analyzed. Among the MM patients, 20 cases were diagnosed without treatment, 15 cases were in complete remission (CR), and 20 cases were clinically relapsed. Blood samples were collected from all subjects, and the relative expression levels of miRNA-21 were detected by real-time quantitative polymerase chain reaction (qRT-PCR), and the correlation of miRNA-21 expression with β 2-macroglobulin (β 2-MG), creatinine, hemoglobin, albumin, t(4;14) mutation, 13q14 mutation and prognosis were analyzed. The MM cell line LP-1 was selected, and normal bone marrow CD138-positive plasma cells were sorted by immunomagnetic beads as control cells. The relative expression levels of miRNA-21 in the two groups of cells were detected by qRT-PCR. Results:The serum relative expression level of miRNA-21 in MM group was higher than that in healthy control group (1.50±0.10 vs. 1.03±0.06, t = 7.04, P = 0.002). The serum expressions of miRNA-21 in newly diagnosed untreated MM patients and relapsed/refractory MM patients were high (1.50±0.10 and 3.13±0.32), and compared with the healthy control group, the differences were statistically significant ( t values were 7.04 and 10.22, both P < 0.05). The relative expression level of miRNA-21 in MM patients with complete remission (CR) was 1.27±0.25, which had no significant difference compared with the healthy control group ( t = 1.76, P = 0.152). The serum expression level of miRNA-21 in MM patients with high β 2-MG, high creatinine, low hemoglobin, low albumin, t(4;14) mutation, 13q14 mutation, non-remission and recurrence was significantly increased (all P < 0.05). The relative expression level of miRNA-21 in LP-1 cell line was higher than that in control cells (1.56±0.05 vs. 1.00±0.06), and the difference was statistically significant ( t = 11.73, P < 0.01). Conclusions:The miRNA-21 may be a molecular marker to assist in the diagnosis and efficacy evaluation of MM.

Effects of body mass index on the prognosis of patients with diffuse large B-cell lymphoma: a Meta-analysis / 白血病·淋巴瘤

Objective:To systematically evaluate the effects of body mass index (BMI) on the prognosis of patients with diffuse large B-cell lymphoma (DLBCL).Methods:The databases (PubMed, Medline,Web of Science) were searched to identify clinical literatures about the relationship between BMI and the prognosis of DLBCL according to the inclusion and exclusion criteria. RevMan 5.3 software was used to analyze hazard ratio ( HR) and 95% confidence interval (95% CI) of overall survival (OS) and progression-free survival (PFS); the quality of included literatures, publication bias risk and heterogeneity were also evaluated. Results:There were 12 articles included in our research. Meta-analysis result showed that compared with normal weight patients (BMI 18.5-24.9 kg/m 2), the overweight patients (BMI 25.0-29.9 kg/m 2) had longer OS and PFS time, while the differences were not statistically significant (OS: HR=0.93, 95% CI 0.78-1.11, P=0.42; PFS: HR=0.89, 95% CI 0.67-1.20, P=0.45). The under-weight (BMI < 18.5 kg/m 2) (OS: HR=1.97, 95% CI 1.41-2.74, P < 0.01; PFS: HR=1.89, 95% CI 1.19-3.03, P < 0.01) and the obesity (BMI≥30.0 kg/m 2) patients both had shorter OS and PFS time, but the latter had no statistically significant difference (OS: HR=1.15, 95% CI 0.88-1.51, P=0.31; PFS: HR=1.32, 95% CI 0.90-1.94, P=0.15). No publication bias was observed in the symmetric funnel plot analysis. Conclusion:The increased BMI within a certain range is a protective factor for the prognosis of DLBCL patients.

Association between health literacy and health related quality of life among primary and middle school students / 中国学校卫生

Objective@#To investigate the association between health literacy (HL) and health related quality of life (HRQoL) among primary and middle school students in Nanjing,and to provide a reference for improving health literacy and health related quality of life among children.@*Methods@#In this cross sectional study, by using a multi stage rondom duster sampling method,a total of 4 388 primary (4-6), junior (grades 7-9) and senior (grades 10-12) high school students were randomly selected in Nanjing during May and June of 2018. HRQoL was measured as continuous variable with the validated Chinese version of Child Health Utility 9D (CHU9D CHN); the relationship between health literacy level and HRQoL was examined using mixed effect linear regression models and reported as mean difference ( MD ) and 95% confidence interval( CI ).@*Results@#There were 85.8% participants who obtained adequate health literacy level, while the mean score of CHU9D CHN was (0.78±0.17) for overall participants. After control for potential confounding factors and class level clustering effects, participants who self reported adequate HL recorded an increased HRQoL scores of 0.08 (95% CI =0.06-0.10) units relative to those self reporting inadequate HL. According to the stratified analysis of students gender, school type and place of residence, the results show that after adjusting the relevant confounding factors and the aggregation of class level, compared with the students without health literacy, the score of health related quality of life of those with health literacy increased significantly.@*Conclusion@#Health literacy of primary school students in Nanjing is positively related to health related life qualities.Therefore,there is a need to promote student s health related quality of life through health literacy.

Development of molecular markers of Mycobacterium tuberculosis rifampicin resistance gene rpoB by PARMS technology / 生物工程学报

The purpose of this study is to provide a simple and reliable genetic typing approach for molecular drug susceptibility test of Mycobacterium tuberculosis, through the developing of fluorescence molecular marker of rifampicin resistance gene rpoB. Eleven fluorescent molecular markers of the rpoB gene were established by using the sequence difference between the amino acid positions 531, 526, 516, 511 and 513 of rpoB gene of rifampicin-resistant strains and the alleles of rifampicin-sensitive strains, combined with the PARMS technique (Penta-primer amplification refractory mutation system). We used 104 clinical isolates of Mycobacterium tuberculosis to validate this marker and it was verified by sequencing as 100% correct. These samples were also tested with proportional drug sensitivity test. The coincidence rate was 94.23%. The molecular markers had high reliability for genotyping of rpoB gene. It can also detect low-concentration drug-resistant samples (511/533 unit point mutations) whose phenotypic susceptibility cannot be detected. The eleven sets of fluorescent molecular markers could cover 92%-96% of rpoB gene mutation types of rifampicin-resistant strains, and provide new idea for rapid detection of rifampin-resistant Mycobacterium tuberculosis.

A study on the change of resting state functional connection of default mode network in clinically remitted patients with major depression disorder / 中华行为医学与脑科学杂志

Objective:To explore the functional connection (FC) changes of default mode network (DMN) with the patients who have clinically remitted from major depressed disorder (MDD) and the brain imaging basis of the rehabilitation mechanism of major depression.Methods:Seventeen right-handed outpatients in the medical and psychological ward of Nanjing Brain Hospital who met the inclusion criteria were recruited by psychiatrists.MDD subjects after enrollment were scanned by resting-state functional magnetic resonance (fMRI) in baseline period(rMDD) and a 6-month follow-up period (sMDD). Tweenty-two healthy controls (control group, HCs group) matched with the MDD group in gender, age, and educational level were recruited and given the same resting fMRI scan.The independent component analysis (ICA) was used to extract DMN brain regions of rMDD, sMDD and HCs in resting state separately and to compare the changes of DMN functional connectivity in full remitted MDD patients.Results:The DMN data showed that the functional connectivity of right orbital middle frontal gyrus(MNI: x, y, z=3, 54, -9), right posterior cingulate(MNI: x, y, z=6, -51, 30), and precuneus(MNI: x, y, z=9, -54, 27) in the rMDD was significantly higher than the HCs group, and no functional connectivity in the rMDD was found to be lower than that in HCs group.Furthermore, no significant difference been found between the sMDD and HCs group.Compared with the rMDD, the functional connectivity of orbital middle frontal gyrus(MNI: x, y, z=3, 54, -9) and left medial prefrontal cortex (mPFC) (MNI: x, y, z=-3, 66, 12)in the sMDD was significantly lower than that in the rMDD, and the functional connectivity of left angular gyrus in the sMDD(MNI: x, y, z=-57, -57, 33) was significantly higher than that in the rMDD.Conclusion:The DMN network has not fully returned to its normal level though the posttreatment Hamilton Depression Scale-17 score was lower than 7 points, and the injury of FC is still recovering in the following 6 months, suggesting that the recovery of the DMN network function was delayed in the full remission of clinical symptoms, and is related to the recure of MDD.

Combined association of physical activity and screen time with healthrelated quality of life among primary and middle school students in China / 中国学校卫生

Objective@#To explore the association of physical activity and screen time with health-related quality of life among students in China.@*Methods@#A total of 4 388 students (graders 4-12) were randomly selected from primary, junior and senior high schools in Nanjing, China, to take part in this cross-sectional questionnaire survey in 2018. The associations of physical activity and screen time with health-related quality of life were assessed using mixed-effects linear regression models and reported as mean difference (MD) and 95% confidence interval(CI).@*Results@#After adjustment for potential confounders and class-level clustering effects, students with sufficient physical activity reported an increased 0.03 (95%CI=0.01-0.05) unit of the Child Health Utility 9D (CHU9D) scores compared to their counterparts with insufficient physical activity, while participants with short screen time also recorded higher CHU9D scores 0.05(95%CI=0.02-0.08) than those with prolonged screen time. Relative to those with insufficient physical activity and prolonged screen time, students with insufficient physical activity and short screen time 0.05(95%CI=0.02-0.09), or students with sufficient physical activity and prolonged screen time 0.03(95%CI=-0.03-0.10), or students with sufficient physical activity and short screen time 0.08(95%CI=0.05-0.12), respectively, reported increased CHU9D scores.@*Conclusion@#Health-related quality of life was positively associated with physical activity, but negatively with screen time. Moreover, these two factors may have a combined effect on health-related quality of life.

The protective effect of Zhicao Tea Mixture on Müller cells and the expression of inflammatory factors in mice with diabetic retinopathy / 中华眼底病杂志

Objective:To observe the protective effect of Zhicao Tea Mixture on Müller cells and the expression of inflammatory factors in mice with diabetic retinopathy.Methods:Seventy-five C57BL/6J mice were randomly divided into the normal control group, diabetes mellitus (DM) group, low concentrations group, medium concentrations group and high concentrations group, with 16 mice in each group. The diabetes model of mice in all groups except the normal control group were established by intraperitoneal injection of STZ (60 mg/kg). Four weeks after the successful modeling, the Zhicao Tea Mixture with low (30 ml/kg), medium (60 ml/kg) and high concentrations (120 ml/kg) were respectively administered by gavage. Weight and blood glucose of mice in each group were measured every two weeks. After 8 weeks, Western blot method was used to detect the mice retina Müller cells activation marker gelatinous fibrous acidic protein (GFAP). Immunofluorescence was performed to detect the expression GFAP and glutamine synthetase (GS). Real-time quantitative PCR (RT- qPCR) and ELISA were used to determine the mRNA and protein expression levels of mouse retinal VEGF, TNF-α, IL-1β and IL-6 respectively.Results:The weight of mice in the DM group was lower than that of the normal control group, and the blood glucose was increased. Zhicao Tea Mixture had no effect on the weight of DM mice, but had a significant hypoglycemic effect. The GFAP expression ( t=38.318, P<0.001) in the retina of mice in the DM group was increased and GS expression ( t=29.737, P<0.001) was decreased compared with the control group. The GFAP expression ( t=13.677, 19.387, 16.305; P<0.05) in the retina of mice in the low, medium and high concentrations group were decreased and GS expression ( t=5.170, 19.399, 6.705; P<0.05) were increased compared with the DM group. The expressions of retinal inflammatory factors VEGF, TNF-α, IL-1β and IL-6 in DM group all increased, while the expressions of the above-mentioned inflammatory factors in the retina of mice decreased in the low, medium and high concentrations group. Conclusion:Zhicao Tea Mixture can decrease the blood glucose of DM mice and reduces the diabetic retinal inflammatory response.

The functional connection of central executive network in patients with depression after clinical cure / 中华行为医学与脑科学杂志

Objective@#To study the changes in the functional connections of the central executive network in patients with depression after clinical cure.@*Methods@#Seventeen depression patients who met the clinical cure standard (patient group) and twenty-two healthy controls (control group) were selected.The baseline rs-fMRI data were collected from the healthy control group and the patient group respectively, and the rs-fMRI data in the patient group were collected again after 6 months.Compared the changes of central executive network function connection between the two groups.@*Results@#At baseline, there was a high functional connection in the left inferior parietal lobule(MNI: x, y, z=-39, -69, 33)and right insula(MNI: x, y, z=15, -45, 30) in the patient group compared with the control group.Compared with the baseline, there were high functional connections in part of the left inferior parietal lobe (MNI: x, y, z=-60, -48, 21) and the right dorsolateral prefrontal lobe (MNI: x, y, z=24, 18, 60), and low functional connections in part of the left inferior parietal lobe (MNI: x, y, z=-51, -69, 18) in patient group 6 months after clinical cure.Compared with the control group, there was a high functional connection in the right dorsolateral prefrontal lobe (MNI: x, y, z=45, 51, -6) and the right inferior parietal lobe (MNI: x, y, z=42, -48, 27) in patient group 6 months after clinical cure.@*Conclusion@#The functional connection of central executive network of depression patients has not been restored, and the related abnormality is not stable in six months after reaching the clinical cure standard.

Hypoxic condition monitoring and treatment evaluation for non-small cell lung cancer before and after radiotherapy by 18F-FMISO PET/CT / 中华核医学与分子影像杂志

Objective To evaluate the changes of hypoxic conditions in non-small cell lung cancer (NSCLC) patients before and after radiotherapy and assess the value of 18F-fluoromisonidzaole (FMISO)PET/CT for radiotherapy efficacy evaluation.Methods A total of 21 NSCLC patients (15 males,6 females,age 30-74 years) from January 2014 to October 2016 were prospectively enrolled.18F-FMISO PET/CT was performed before and after radiotherapy,and all patients underwent 18F-fluorodeoxyglucose (FDG)PET/CT before radiotherapy.Routine chest CT was performed at the 3rd and 6th month after radiotherapy.The maximum standardized uptake value (SUVmax) of tumor and muscle,tumor volume and hypoxic volume (HV) were measured.Tumor-to-muscle (T/M) value of 18F-FMISO was calculated,and T/M ≥ 1.3 was considered as the hypoxia cut-off value.Data were analyzed using Pearson correlation,paired t test,signed rank sum test and Wilcoxon rank sum test.Results Totally 81.0％(17/21) of NSCLC patients had hypoxia.There were significant positive correlations between 18F-FMISO T/M value and tumor volume or 18F-FDG SUVmax(r:0.72,0.60,both P＜0.05).The T/M value after radiotherapy was significantly lower than that before radiotherapy (1.42± 1.12 vs 2.08±0.71;t =3.62,P＜0.05),and median HV was also significantly lower than that before radiotherapy (6.53 vs 12.41 cm3;z =-3.83,P＜0.05).The median T/M values of effective group (n =14) and ineffective group (n =7) before radiotherapy were significantly different (2.14 vs 2.87;z=-2.27,P＜0.05),and the median HV of 2 groups before radiotherapy was also significantly different (6.43 vs 10.20 cm3;z=-2.14,P＜0.05).Conclusions Most NSCLC patients have hypoxia before radiotherapy.The larger tumor volume,the higher degree of hypoxia.Radiotherapy can alleviate the hypoxia of tumors.18F-FMISO PET/CT imaging before radiotherapy can be used to predict the efficacy of patients with NSCLC.

Correlation between effectual time and the curative effect in patients with all frequency descending sudden deafness after treatment / 中国耳鼻咽喉头颈外科

OBJECTIVE To discuss the correlation between effectual time and the curative effect in patients with all frequency descending sudden deafness. METHODS According to effectual time,the subjects were divided into first week effectual group and second week effectual group and the curative effect of each group was compared. RESULTS In patients with flat descent sudden deafness, the curative rate of the first week effectual group was higher than that of the second week effectual group, but there was no significant difference between the two groups(χ2=1.599, P =0.206). Meanwhile, the total significant effective rate of the first week effectual group was higher than that of the second week effectual group, without obvious difference between the two groups(χ2=0.124, P =0.725). Furthermore, in patients with total deafness type of sudden deafness, the curative rate of the first week effectual group was higher than that of the second week effectual group, showing no remarkable difference between the two groups(χ2=2.493, P =0.114). Besides, there was no remarkable difference in the comparison of the total significant effective rate (χ2=2.308, P =0.129), which was higher in the first week effectual group than that in the second week effectual group. CONCLUSION The course of treatment should be at least 2 weeks in patients with all frequency descending sudden deafness after onset.

Tumor-secreted vascular endothelial growth factor A increases the pulmonary metastasis from nasopharyngeal carcinoma / 中华耳鼻咽喉头颈外科杂志

Objective@#Vascular endothelial growth factor A (VEGFA) was investigated as the key protein which might promote the specific metastasis progress of nasopharyngeal carcinoma.@*Methods@#Sixteen specimens of pulmonary metastasis carcinoma and counterparts in primary nasopharyngeal carcinoma tissue were collected from patients. The expression of VEGFA through immunohistochemistry was investigated.VEGFA was knocked down by siRNA in two cell lines of nasopharyngeal carcinoma (CNE-1 and 5-8F), MTT and Transwell test were used to explore the role of VEGFA in praxiology. Then shRNA was used to cultivate the stable CNE-1 cell line with down-regulated-expression of VEGFA. The nude mice models were built through tail vein injection of specific nasopharyngeal carcinoma cells, and lungs were collected to perform further metastasis analysis.@*Results@#Previous genetic studies showed that VEGFA had higher expression in metastasis tissue, and the result was validated in the present study using immunohistochemistry. The percentage of positive cells was 84.8% in pulmonary metastasis group, 51.5% in primary tissue group (t=8.639, P<0.05), average optical density was 0.154 in pulmonary metastasis group, 0.061 in primary tissue group (t=18.791, P<0.05). Low expression of VEGFA inhibited cell viability of optical density value of CNE-1 in siRNA gourp was 0.715, 0.902 in control group (t=7.274, P<0.05); 5-8F in siRNA group was 0.715, 0.935 in control group (t=7.751, P<0.05). Number counting suppressed migration of CNE-1 in siRNA group was 52 per high-power lens, 124 per high-power lens in control group (t=29.380, P<0.05), 5-8F in siRNA group was 65 per high-power lens, 155 per high-power lens in control group (t=18.181, P<0.05). Number counting invasion of CNE-1 in siRNA gourp was 38 per high-power lens, 86 per high-power lens in control group (t=27.665, P<0.05), 5-8F in siRNA group was 52 per high-power lens, 116 per high-power lens in control group (t=40.972, P<0.05) in vitro. Furthermore, knock-down of VEGFA in nasopharyngeal carcinoma reduced the pulmonary metastasis in vivo. Number counting of tumor volumes in shRNA group was 2.4, and 11.0 in control group (t=6.143, P<0.05); average optical density of immunohistochemistry in shRNA group was 0.033, and 0.176 in control group (t=15.734, P<0.05).@*Conclusions@#Results above reveal the overexpression of VEGFA in nasopharyngeal carcinoma can facilitate the pulmonary metastasis. Targeting VEGFA may provide a new biomarker of clinical study.

Application value of vector flow mapping in assessing the degrees of coronary artery stenosis / 中华超声影像学杂志

Objective To quantify the left ventricular flow field characteristics of different phases of cardiac cycle in patients with different degrees of coronary artery stenosis by using vector flow mapping ( VFM ),and explore the value of quantitative parameters of VFM in diagnosis of degrees of coronary artery stenosis in patients with coronary heart disease. Methods Eighty-four patients with coronary artery stenosis showed by coronary angiography served as case group. According to the results of coronary angiography,all the patients of case group were divided into 3 groups:mild stenosis group,moderate stenosis group and severe stenosis group. Forty-five healthy adult volunteers were selected as control group. The quantitative parameters,including average energy loss ( EL-base,EL-mid,EL-apex ) and circulation ( vortex area,circulation),were measured in the different periods of VFM mode. The difference of parameters were evaluated between case group and control group during different periods. E/e′was derived via dual-Doppler imaging technology and correlation was analyzed between aEL, circulation, E/e′( L ) and E/e′( S ), separately. ROC curve was used to analyze aEL in severe stenosis group,and to evaluate the diagnostic efficacy of aEL in different cardiac cycles. Results ①Compared with the control group,aEL in global and regional segment of left ventricle in the severe stenosis group were significantly increased during isovolumetric relaxation period,reduced filling period,atrial systolic phase and isovolumic contraction period ( all P ＜ 0.05 ). And the aEL in global and regional segment of left ventricular in the moderate stenosis group were significantly increased during reduced filling period, atrial systolic phase and isovolumic contraction period ( all P ＜0.05). And the aEL in middle segment of left ventricular in the mild stenosis group was significantly increased during reduced filling period ( P ＜0.05). ②Compared with the control group, the vortex area and circulation intensity in left ventricular of the severe stenosis grrculation intensity and E/e′( L) or E/e′( S) during reduced filling period and atrial systolic phase . Conclusions VFM can effectively evaluate the flow field characteristics of left ventricle in patients with oup were significantly increased during isovolumetric relaxation period,reduced filling period,atrial systolic phase and isovolumic contraction period( P ＜0.05). ③ In case group,there were positive correlations between aEL withE/e′(L) orE/e′(S) at global and regional segment of rapid filling phase and atrial systolic phase . And there were positive correlations between the vortex area orcoronary heart disease . The quantitative parameters of VFM can reflect the extent of coronary artery stenosis in some extent.

RNF126 Quenches RNF168 Function in the DNA Damage Response / 基因组蛋白质组与生物信息学报·英文版

DNA damage response (DDR) is essential for maintaining genome stability and protecting cells from tumorigenesis. Ubiquitin and ubiquitin-like modifications play an important role in DDR, from signaling DNA damage to mediating DNA repair. In this report, we found that the E3 ligase ring finger protein 126 (RNF126) was recruited to UV laser micro-irradiation-induced stripes in a RNF8-dependent manner. RNF126 directly interacted with and ubiquitinated another E3 ligase, RNF168. Overexpression of wild type RNF126, but not catalytically-inactive mutant RNF126 (CC229/232AA), diminished ubiquitination of H2A histone family member X (H2AX), and subsequent bleomycin-induced focus formation of total ubiquitin FK2, TP53-binding protein 1 (53BP1), and receptor-associated protein 80 (RAP80). Interestingly, both RNF126 overexpression and RNF126 downregulation compromised homologous recombination (HR)-mediated repair of DNA double-strand breaks (DSBs). Taken together, our findings demonstrate that RNF126 negatively regulates RNF168 function in DDR and its appropriate cellular expression levels are essential for HR-mediated DSB repair.

Presenilin 1 gene mutation p.L226R in a Chinese early-onset familial Alzheimer's disease pedigree / 中华神经科杂志

Objective To analyze the clinical presentation , the mutation of the pathogenic genes and imaging features in a Chinese Han early-onset Alzheimer's disease pedigree.Methods A pedigree of Alzheimer's disease was collected.The DNA sequence of presenilin 1 (PSEN1), presenilin 2, micro-tubule associated protein tau ,β-amyloid precursor protein gene was analyzed , the clinical presentation , results of accessory examination , neuropsychological evaluation of the proband were investigated and the point mutations of some members of the family , 50 sporadic Alzheimer's disease patients , 50 normal controls were verified.Results The proband of the family appeared as language impairment , memory loss, personality change, repeated language, visuospatial impairment, mental and behavior disorder.The gene detection showed p.L226R mutation in the condon 226 in the exon 7 of PSEN1 gene of the proband and five other family members (Ⅲ1 ,Ⅲ2 ,Ⅲ4 ,Ⅲ6 ,Ⅲ7 ).The mother of the proband had the suspicious symptoms , and the sister and the brother of the proband had the similiar symptoms with the proband , all of whom died.Fifty sporadic Alzheimer'disease patients and 50 unrelated normal subjects did not have the mutation .The computed tomographic angiography showed that the brain blood vessels were normal and 18 F-fludeoxyglucose positron emission tomography (18F-FDG-PET) showed brain atrophy and hypometabolism in frontotemporal regions, parietal regions, hippocampal areas, however, the MRI, MRA and 18F-FDG-PET of the two mutation carriers (Ⅲ6 ,Ⅲ7 ) were all normal.Conclusion We reported a novel mutation in an early-onset Alzheimer's disease family presented as language impairment in the early stage of the disease , the p.L226R mutation of PSEN1, which may be a pathogenic mutation to cause the family's dementia.

Effect of compound raspberry seed powder on acute radiation injury / 中华放射医学与防护杂志

Objective To study the protective effect of compound raspberry seed powder on acute irradiated rat .Methods Totally forty Wistar rats were randomized divided into four groups:normal control group, radiation group, vitamin group, compound raspberry seed powder group . The drugs were intragastrically administrated for 7 days.On 8th day, the rats in each group except control were irradiated with 8 Gy X-rays.24 h after irradiation, all rats were sacrificed and its WBC, PLT, superoxide dismutases (SOD), malonaldehyde (MDA), glutathione peroxidase (GSH-PX) in serum were detected, the DNA damage in peripheral blood lymphocytes ( PBL ) was measured with the single cell gel electrophoresis technique.Results Compared with radiation alone group , the quantities of WBC, PLT, the activity of SOD, the content of MDA and the activity of GSH-PX in the vitamin group and compound raspberry seed powder group were significantly improved(F=14.869, 6.376, 7.705, 3.851, 3.134, P<0.05).The DNA damage in PBL of radiation alone group was more severe than that of other three groups ( F=5.493, P<0.05) .Conclusions Raspberry seed powder is effective in radiation protection .

Value of real-time elastography in evaluating rabbit carotid artery vulnerable plaque / 中华超声影像学杂志

Objective To explore the clinical value of real‐time elastography in evaluating rabbit carotid vulnerable plaque . Methods Thirty male New Zealand rabbits ( weighted from 2 .0 to 3 .0 kg) were all fed with high cholesterol diet for one week before balloon injury of their right common carotid arteries . Then they were categorized randomly into two groups which were continued fed by high cholesterol diet for 6 and 12 weeks ,respectively . Ultrasound and real‐time elastography of their right common carotid arteries were applied after their anesthesia by ear marginal vein . Strains of the carotid plaques were measured and analyzed statistically by two independent experienced sonographers . All the rabbits were sacrificed by air embolism method after all the examinations . The atherosclerotic rabbit common carotid lesions were dissected ,fixed for pathologic examination , and graded according to the standard of American Heart Association ( AHA) ,which were compared with the real‐time elastography findings . Results Real‐time elastography had well repeatability between different operators . Consistency between elastography and the AHA pathology was quite good ,with the Cohen′s kappa= 0 .803 (95% CI 0 .669 to 0 .938) . Strains of different regions in a plaque had statistically significant difference ( P <0 .000 1) . By using strain higher than 0 .37% ,the sensitivity and specificity of detecting a lipid core were 88 .0% and 81 .6% ,and area under ROC curve was 0 .902 (95% CI 0 .810 -0 .959 , P < 0 .0001) . Conclusions Real‐time elastography can display the inner elastic characteristics of the rabbit carotid plaques ,and may help evaluate the grading of a plaque . The strain value may help detect a necrotic core ,thereby help evaluate the stability of a plaque .

The value of ultrasound in the diagnosis of acetabular labrum / 中华超声影像学杂志

Objective To investigate the values of clinical examinations and ultrasonography in diagnosing acetabular labrum injury . Methods Fifty-three hip dysfunction patients consisting 60 hips were enrolled in this research ,include 46 unilateral hips and 7 bilateral hips . Patients underwent physical examinations such as impingement test ,FABER test and resisted straight leg raise test ,then they underwent ultrasound examitation to observe the morphology ,boundry and internal echo of the labrum . The types of tears were classified into radial flaps( Ⅰ type) ,radial fibrillated( Ⅱ type) ,longitudinal peripheral( Ⅲ type) and unstable ( Ⅳ type) by Lage Classification system .The purpose of this study was to evaluate the application values of the sonographic findings and clinical examinations according to arthroscopic or intraoperative findings as gold standard in diagnosis of labral tears of the hip ,as well as evaluate the accuracy in diagnosis the type of tears . Results ① The sensitivity ,accuracy and positive predictive value for the diagnosis of acetabular labrum tears by sonography were 81 .1% ( 47/58) ,78 .3% ( 47/60) and 95 .9%( 47/49 ) . And the sensitivity , specific , positive predictive value and negative predictive value for the diagnosis of anterosuperior labrum tears by sonography were 95 .9% ( 47/49) ,81 .8% ( 9/11) ,95 .9% ( 47/49) ,81 .8% (9/11) ;the accuracy of sonographic in diagnosis the types of tears was 92 .3% ( Ⅰ type) ,90 .9%( Ⅱ type) ,80 .0% ( Ⅲ type) and 86 .7% ( Ⅳ type) respectively ; ② The accuracy of clinical examinations in diagnosing acetabular labrum tears were 89 .5% ( impingment test) ,60 .0% ( FABER test) and 75% ( resisted straight leg raise test) ;sonographic has a higher veracity in diagonoses of anterosuperior labrum tears than any clinical examinations . Conclusions Sonographic can efficiently diagonose anterosuperior labrum tears , and would be highly used in classified the types of labrum tears .