Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.

Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have serious consequences for the affected neonates. Newborn screening for IMDs is conducted by measuring specific metabolites between 3 and 7 days of life. Herein, we analyzed the incidence, spectrum, and genetic characteristics of IMDs in newborns in the Zhuzhou area. Methods: Tandem mass spectrometry was conducted on 90,829 newborns who were admitted to the Women and Children Healthcare Hospital of Zhuzhou and requested for screening for IMDs. These newborns were subsequently subjected to next-generation sequencing and further validated using Sanger sequencing. Results: 30 IMDs cases were found in 90,829 cases of newborns screened for IMDs, and the overall incidence was 1/3,027. The incidence of amino acid, organic acid, fatty acid oxidation and urea cycle disorders were 1/8,257, 1/18,165, 1/7,569, and 1/45,414, respectively. Additionally, 9 cases of maternal IMDs were found in our study, and unreported gene mutations of 3 cases IMDs were identified. Conclusion: Our data indicated that IMDs are never uncommon in zhuzhou, meanwhile, we also found that primary carnitine deficiency was the only disorder of fatty acid oxidation in Zhuzhou, and the incidence (1/7,569) was higher than the national level, organic acid metabolic diseases are mostly inherited. Therefore, our study has clarified the disease spectrum and genetic backgrounds, contributing to the treatment and prenatal genetic counseling of these disorders in this region.

Association between depressive symptoms and risk of coronary heart disease in middle-aged and elderly Chinese community: An empirical analysis based on CHARLS database / 西安交通大学学报(医学版)

【Objective】 To investigate the association of depressive symptoms with the predicted risk of coronary heart disease in middle-aged and elderly Chinese based on a large community study. 【Methods】 A total of 2532 cases in the group without depression and 2758 cases in the group with depression were included. We compared the two groups in general demographics, information related to coronary heart disease risk, and physical function and ability to perform daily living. We also analyzed the factors associated with coronary heart disease risk by linear regression. 【Results】 ① Demographic information: The group with depression had a higher mean age, a higher proportion of women, more people with poor marital status, and a higher number of comorbid chronic diseases compared with the group without depression (all P<0.05). ② Risk indicators related to coronary heart disease: The group with depression had more people with diabetes and a significantly higher systolic blood pressure compared with the group without depression (P<0.05). The two groups did not significantly differ in the proportion of smokers, diastolic blood pressure, LDL-C, or HDL-C (all P>0.05). The risk of coronary heart disease was significantly higher in the group with depression than in the group without depression (P<0.05). ③ Physical function and ability of daily living: The physical function score, physical self-care score, and instrumental daily living ability were significantly higher in the group with depression than in the group without depression (all P<0.001). ④ Linear regression showed that except for gender, age, marital status, comorbid diabetes, smoking, systolic and diastolic blood pressure, HDL-C and LDL-C were associated with risk of coronary heart disease (P<0.05); CESD was the only factor associated with the risk of coronary heart disease [B=0.019, 95% CI: (0.015, 0.032), P=0.032]. 【Conclusion】 The risk of coronary heart disease is higher in middle-aged and elderly people with depressive symptoms than in those without depressive symptoms. Having depressive symptoms is one of the risk factors for coronary heart disease in middle-aged and elderly people.

Clinical Significance of co-expression of RNA Binding Protein PTBP1 and p-AXL in Osteosarcoma / 中山大学学报(医学科学版)

ObjectiveTo explore the co-expression of PTBP1 and p-AXL in osteosarcoma and its clinicopathological significance for prognosis evaluation. MethodsThe expression of PTBP1 and AXL and their prognostic value in osteosarcoma were analyzed by GEO and Target data. Paraffin biopsy specimens and clinical information from 76 cases of osteosarcoma and 37 cases of non-malignant bone tissue （callus， osteofibrous dysplasia and osteoid ostema） were obtained from the First Affiliated Hospital of Sun Yat-sen University from March 2016 to October 2020. The expressions of PTBP1 and p-AXL proteins in osteosarcoma were detected by immunohistochemistry. ResultsGEO database showed that the expression levels of PTBP and AXL in osteosarcoma tumor group were higher than those in normal tissues， but did not reach statistical significance. Target database showed that the high expression of PTBP1 had shorter Overall survival（OS） and Progression-free survival（PFS） than low PTBP1 expression， but did not reach statistical significance （P=0.064； P=0.134）. Immunohistochemical staining included 76 cases of osteosarcoma and 37 cases of non-malignant bone tissue. The expression rate of PTBP1 and p-AXL protein in osteosarcoma tissues was higher than that in non-malignant bone tissue. The expression of p-AXL is correlated with lung metastasis （P=0.025）. Kaplan-Meier analysis showed that lung metastasis， recurrence， PTBP1 expression， co-expression of PTBP1/p-AXL influence the prognosis of patients in OS. Multivariate Cox regression analysis showed that lung metastasis （P<0.000 1） and positive expression of PTBP1 （P=0.041） were independent risk factors for osteosarcoma patients in OS. Co-expression of PTBP1 and p-AXL had shorter OS （P=0.017） and PFS （P=0.043） than non-coexpression osteosarcoma patients. ConclusionsPTBP1 and p-AXL were highly expressed in osteosarcoma tissues. The co-expression of PTBP1 and p-AXL was associated with poor prognosis of patients， and PTBP1 could be used as an independent prognostic indicator of patients with osteosarcoma.

Value of Intraplaque Neovascularization on Contrast-Enhanced Ultrasonography in Predicting Ischemic Stroke Recurrence in Patients With Carotid Atherosclerotic Plaque

Objective@#Patients with a history of ischemic stroke are at risk for a second ischemic stroke. This study aimed to investigate the relationship between carotid plaque enhancement on perfluorobutane microbubble contrast-enhanced ultrasonography (CEUS) and future recurrent stroke, and to determine whether plaque enhancement can contribute to risk assessment for recurrent stroke compared with the Essen Stroke Risk Score (ESRS). @*Materials and Methods@#This prospective study screened 151 patients with recent ischemic stroke and carotid atherosclerotic plaques at our hospital between August 2020 and December 2020. A total of 149 eligible patients underwent carotid CEUS, and 130 patients who were followed up for 15–27 months or until stroke recurrence were analyzed. Plaque enhancement on CEUS was investigated as a possible risk factor for stroke recurrence and as a possible adjunct to ESRS. @*Results@#During follow-up, 25 patients (19.2%) experienced recurrent stroke. Patients with plaque enhancement on CEUS had an increased risk of stroke recurrence events (22/73, 30.1%) compared to those without plaque enhancement (3/57, 5.3%), with an adjusted hazard ratio (HR) of 38.264 (95% confidence interval [CI]:14.975–97.767; P < 0.001) according to a multivariable Cox proportional hazards model analysis, indicating that the presence of carotid plaque enhancement was a significant independent predictor of recurrent stroke. When plaque enhancement was added to the ESRS, the HR for stroke recurrence in the high-risk group compared to that in the low-risk group (2.188; 95% CI, 0.025–3.388) was greater than that of the ESRS alone (1.706; 95% CI, 0.810–9.014). A net of 32.0% of the recurrence group was reclassified upward appropriately by the addition of plaque enhancement to the ESRS. @*Conclusion@#Carotid plaque enhancement was a significant and independent predictor of stroke recurrence in patients with ischemic stroke. Furthermore, the addition of plaque enhancement improved the risk stratification capability of the ESRS.

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.

BACKGROUND: Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, resulting in the formation of a complete ring. Mosaic X-ring chromosomes are extremely rare and have highly variable phenotypes. Here, we report a case with a mosaic X-ring chromosome in a patient with Turner syndrome, and we illustrate the unreported complicated mechanism using chromosome analysis and fluorescence in situ hybridization (FISH). CASE PRESENTATION: A 10-year-old girl of short stature presenting Turner syndrome was admitted to our hospital. The patient's clinical characteristics were subsequently documented. Genetic analysis showed a karyotype of mostly 45,X[140]/46,X,r(X)[60]. The X ring chromosome was cytogenetically characterized as 45,X/46,X,r(X)(p22.32q21.1), with a length of approximately 74 Mb. CONCLUSIONS: Taken together, we report a rare case with a mosaic X ring chromosome in Turner syndrome and we believe this case expands our collective knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling for Turner syndrome.

The prevalence of unhealthy lifestyle among occupational population aged 18‒59 in Shanghai in 2013 / 上海预防医学

Objective:To understand the prevalence of unhealthy lifestyle among Shanghai occupational population aged 18-59 in 2013 and provide suggestion for intervention. Methods:Data retrieved from 2013 Shanghai Non-communicable Diseases and Risk Factors Surveillance were used to investigate the residents who were 18-59 years old and engaged in various occupations in Shanghai. Descriptive analysis and test were conducted by weight and complex sampling. Smoking， drinking， eating behavior and physical activities were compared among different gender，age，area and occupation groups. Results:A total of 10 287 participants were included in this analysis. The current smoking rate of 41.46% in males were significantly higher than 0.64% in females（χ2=2 278.306，P<0.05）. The current smoking prevalence was highest in workers in production and transport （34.49%）. The rate of drinking in the past 30 days， hazardous drinking， and harmful drinking in rural area were 23.80%，6.59% and 11.62%， respectively，which were the highest in all areas. Both the hazardous and harmful drinking prevalence （8.58% and 18.70%， respectively） were the highest in agriculture workers in comparison with other occupations. There is no significant difference in insufficient intake of vegetables and fruits in gender，age and area groups. The proportion of people with excessive intake of red meat was higher in males than that in females （28.11% versus 17.77%，146.176，P<0.05）. Occupational population in urban area had the highest regular physical activities （22.64%）. The clerks had the longest daily sedentary time （7.25 h）. The agricultural workers had the lowest regular exercise rate （11.75%） and the shortest sedentary time （4.07 h）. Conclusion:This study identifies different prevalence of unhealthy lifestyle in different gender， age， area， and occupational groups， which can be helpful for for targeted intervention.

Platelet-Derived Growth Factor Receptor-α Subunit Targeting Suppresses Metastasis in Advanced Thyroid Cancer In Vitro and In Vivo

Thyroid cancer is the most common endocrine malignancy. Patients with well-differentiated thyroid cancers, such as papillary and follicular cancers, have a favorable prognosis. However, poorly differentiated thyroid cancers, such as medullary, squamous and anaplastic advanced thyroid cancers, are very aggressive and insensitive to radioiodine treatment. Thus, novel therapies that attenuate metastasis are urgently needed. We found that both PDGFC and PDGFRA are predominantly expressed in thyroid cancers and that the survival rate is significantly lower in patients with high PDGFRA expression. This finding indicates the important role of PDGF/PDGFR signaling in thyroid cancer development. Next, we established a SW579 squamous thyroid cancer cell line with 95.6% PDGFRA gene insertion and deletions (indels) through CRISPR/Cas9. Protein and invasion analysis showed a dramatic loss in EMT marker expression and metastatic ability. Furthermore, xenograft tumors derived from PDGFRA geneedited SW579 cells exhibited a minor decrease in tumor growth. However, distant lung metastasis was completely abolished upon PDGFRA gene editing, implying that PDGFRA could be an effective target to inhibit distant metastasis in advanced thyroid cancers. To translate this finding to the clinic, we used the most relevant multikinase inhibitor, imatinib, to inhibit PDGFRA signaling. The results showed that imatinib significantly suppressed cell growth, induced cell cycle arrest and cell death in SW579 cells. Our developed noninvasive apoptosis detection sensor (NIADS) indicated that imatinib induced cell apoptosis through caspase-3 activation. In conclusion, we believe that developing a specific and selective targeted therapy for PDGFRA would effectively suppress PDGFRA-mediated cancer aggressiveness in advanced thyroid cancers.

Research on in vivo metabolites of Longxue Tongluo Capsules by liquid chromatography coupled with hybrid ion trap/time-of-flight mass spectrometry / 中国中药杂志

Longxue Tongluo Capsules(LTC) has good efficacy against blood stasis syndrome during the recovery period of ischemic stroke. Its main active ingredient is the phenolic extract of Chinese dragon's blood. In our previous study, the primary mass fragmentation pathways of phenolic derivatives from LTC were clarified. Herein, the metabolites in rat plasma were characterized following the oral administration of loureirin A and loureirin C using liquid chromatography coupled with hybrid ion trap/time-of-flight mass spectro-metry(LC-IT-TOF-MS), with 18 and 55 metabolites identified, respectively. On this basis, with the help of the obtained accurate molecular weight, characteristic fragment ions, reference comparison, combined with LTC database and natural products database self-created in our group, 18 prototypes and 106 metabolites were tentatively identified in rat plasma after oral gavage of LTC at a dose of 500 mg·kg~(-1). Glucuronidation, sulfonation, and methylation were major biotransformation pathways of LTC. This study preliminarily clarified the LTC constituents absorbed into blood and laid the foundation for clarifying the effective substances of LTC.

Identification of active components of Dendrobium inhibit growth of gastric cancer cells based on component-activity relationship / 中国中药杂志

Three cancer cell lines including gastric cancer SGC-7901, HGC-27, and MGC-803 cells were employed to evaluate the bioactivity of seven Dendrobium species. Simultaneously, these Dendrobium species were assessed with UPLC-Q-TOF-MS, and 504 common peaks were found. Based on the hypothesis that biological effects varied with differences in components, multivariate relevance analysis for chemical component-activity relationship of Dendrobium, including grey relation(GRA) and partial least squares(PLS) analysis were performed to evaluate the contribution of each identified component. The target peaks were identified by standards toge-ther with databases of Dendrobium, Nature Chemistry, MassBank, etc. Finally, four active components, including 3,5,9-trihydroxy-23-methylergosta-7,22-dien-6-one, diacylglycerol(14∶1/22∶6/0∶0), pipercitine, and 22-tricosenoic acid, might have negative effect on the growth of gastric cancer cells.

Puerarin attenuated ischemia/reperfusion injury an in vitro model through a repression of autophagy by HMGB1/TLR4/NF-κB axis / 中华器官移植杂志

Objective:To explore the protective effect of puerarin on hypoxia/reoxygenation (H/R)-induced acute kidney injury(AKI)in vitro.Methods:HK-2 cells were treated with H/R for simulating ischemia reperfusion injury(IRI)in vivo. The experimental groups included control group, H/R treatment group(0/6/12/24 h), H/R 24 h + puerarin treatment group(puerarin, Pue), H/R 24 h + Pue+ 3-methyladenine(3-MA)treatment group and H/R 24 h+ 3-MA treatment group. Immunoblotting was employed for detecting the expression changes of autophagy-related proteins, CCK-8 for examining cell proliferation, electron microscopy for observing autophagosome formation and TUNEL for detecting apoptosis.Results:As compared with control group, the expression of LC3-II rose in H/R 24 h group, the expression of autophagy marker P62 declined, count of autophagosome increased, cell viability decreased and cellular inflammation occurred. Puerarin had similar effects to 3-MA. As compared with H/R 24 h group, puerarin could reverse the changes in the expression levels of LC3 and P62 induced by H/R( P<0.05). There were greater cell viability, reduced autophagosome count and lessened cell apoptosis( P<0.05). At the same time, protein expression levels of HMGB1, TLR4 and NF-κB dropped( P<0.05). Conclusions:Puerarin suppresses autophagy through HMGB1/TLR4/NF-κB axis for lessening ischemia-reperfusion injury an in vitro model.

Platelet-Derived Growth Factor Receptor-α Subunit Targeting Suppresses Metastasis in Advanced Thyroid Cancer In Vitro and In Vivo

Thyroid cancer is the most common endocrine malignancy. Patients with well-differentiated thyroid cancers, such as papillary and follicular cancers, have a favorable prognosis. However, poorly differentiated thyroid cancers, such as medullary, squamous and anaplastic advanced thyroid cancers, are very aggressive and insensitive to radioiodine treatment. Thus, novel therapies that attenuate metastasis are urgently needed. We found that both PDGFC and PDGFRA are predominantly expressed in thyroid cancers and that the survival rate is significantly lower in patients with high PDGFRA expression. This finding indicates the important role of PDGF/PDGFR signaling in thyroid cancer development. Next, we established a SW579 squamous thyroid cancer cell line with 95.6% PDGFRA gene insertion and deletions (indels) through CRISPR/Cas9. Protein and invasion analysis showed a dramatic loss in EMT marker expression and metastatic ability. Furthermore, xenograft tumors derived from PDGFRA geneedited SW579 cells exhibited a minor decrease in tumor growth. However, distant lung metastasis was completely abolished upon PDGFRA gene editing, implying that PDGFRA could be an effective target to inhibit distant metastasis in advanced thyroid cancers. To translate this finding to the clinic, we used the most relevant multikinase inhibitor, imatinib, to inhibit PDGFRA signaling. The results showed that imatinib significantly suppressed cell growth, induced cell cycle arrest and cell death in SW579 cells. Our developed noninvasive apoptosis detection sensor (NIADS) indicated that imatinib induced cell apoptosis through caspase-3 activation. In conclusion, we believe that developing a specific and selective targeted therapy for PDGFRA would effectively suppress PDGFRA-mediated cancer aggressiveness in advanced thyroid cancers.

First batch of national demonstration areas for comprehensive prevention and control of chronic diseases in Shanghai:their healthy environment construction and effectiveness evaluation / 上海预防医学

Objective To make assessment on construction effectiveness of the first batch of national chronic disease comprehensive control and prevention demonstration areas (NCD demonstration areas) in Shanghai, summarizing NCD experience and its characteristics, so as to provide reference for other regions. Methods Data were collected and analysed concerning construction of health support environment and regional characteristics of the six districts-Xuhui, Jing′an, Minhang, Jiading, Songjiang and Qingpu.Descriptive data from Shanghai Non-communicable Diseases and Risk Factors Surveillance in 2013 and 2017 was also analyzed for evaluation. Results It was noted that health support environment had been in continuous construction.The total number of health units increased by 1 502 as compared with pre-construction.The number of new type health units increased by 489 such as health theme parks, health trails and health huts.All six districts established self-help health test points covering all streets and towns.Residents′ living and behavior styles were improved, as there was a decrease in current smoking rate, oil intake and salt intake in the six NCD demonstration areas.In Xuhui, Minhang and Jiading three districts, the current smoking rate among residents over 18 years old remarkably declined.In five of the six districts, the average daily oil intake per family member was significantly reduced and so was the average daily salt intake per family member in the six districts.In addition, the six demonstration areas in Shanghai explored several models of NCD prevention and control in line with regional characteristics, which produced positive results. Conclusion The first batch of demonstration areas of Shanghai have achieved effective results in aspects of environmental support and health effects.The modes of NCD prevention and control in different districts present their regional characteristics, which provide significant reference for other regions of Shanghai in this regard.

Consumption of sugar-sweetened carbonated beverage and juice/fruit-flavored drink among residents aged 15 years and above in 2013 in Shanghai / 上海预防医学

Objective To determine the consumption of sugar-sweetened carbonated beverage and juice/fruit-flavored drink among residents aged 15 years and above in 2013 in Shanghai. Methods Data was extracted from the 2013 Shanghai Non-communicable Disease and Risk Factors Surveillance, in which multi-stage cluster sampling was performed.A total of 25 657 subjects aged ≥15 years across the city were selected for analysis. Results In the study, 34.42% (95%CI:32.33%-36.51%) and 37.85% (95%CI:35.37%-40.32%) of the subjects consumed sugar-sweetened carbonated beverage and juice/fruit-flavored drink in 2013 in Shanghai.The proportions declined with age (P for trend < 0.001), while increased with education level (P for trend < 0.001).They were 65.28% and 69.82% among students, which were much higher than other occupations.Men consumed more sugar-sweetened carbonated beverage than women (37.31% vs 31.37%), whereas less juice/fruit-flavored drink (36.14% vs 39.65%).Among the subjects consumed sugar-sweetened carbonated beverage (n=6 254) or juice/fruit-flavored drink (n=6 701), 52.20% (95%CI:49.41%-54.98%) and 54.04% (95%CI:51.09%-56.98%) consumed 1-3 times a week.The daily average amount of sugar-sweetened carbonated beverage and juice/fruit-flavored drink were 98.64 mL (95%CI:88.92-108.37) and 88.85 mL (95%CI:73.73-103.97), respectively, which were higher among the young (< 45 years old), male and students. Conclusion In 2013 in Shanghai, the consumption of sugar-sweetened carbonated beverage and juice/fruit-flavored drink is highly prevalent among residents aged 15 years and above, especially among the young, male, well-educated and students.Intervention should be tailored to reduce the consumption among at-risk population.

Effects of Ultrashort Wave on Inflammatory of Acute Lung Injury and Related Signaling Pathway in Rats / 中国康复理论与实践

Objective:To observe the effects of ultrashort wave (USW) on lipopolysaccharide (LPS) induced acute lung injury (ALI) and nucleotide-binding oligomerization domain like receptor protein 3 (NLRP3) signaling pathway in rats. Methods:Twenty-four three-month-old male Sprague-Dawley rats were randomly divided into control group (n = 8), ALI group (n = 8) and USW group (n = 8). The ALI and USW groups were instilled with LPS to induce ALI, and the USW group was treated with ultrashort wave 0, four and eight hours after instillation, 15 minutes a time. Twenty-four hours after instillation, the lung tissue of the rats was measured the wet/dry mass ratio (W/D), and observed under HE staining. Serum levels of interleukin (IL)-1β and IL-18 were detected with ELISA. The mRNA and protein expression of NLRP3, caspase-1 and IL-1β in the lung tissue were detected with reverse transcription polymerase chain reaction and Western blotting, respectively. Results:W/D increased in ALI group compared with that of the control group (P < 0.05), and it decreased in USW group without significance compared with that of ALI group (P > 0.05). Lung injury score increased in ALI group compared with that of the control group (P < 0.05), and it decreased in USW group compared with that of ALI group (P < 0.05); as well as the serum IL-1β and IL-18, and mRNA and protein expression of NLRP3, caspase-1 and IL-1β. Conclusion:USW can alleviate the inflammatory of acute lung injury, which may associate with inhibiting of NLRP3 signaling pathway.

Improvement research on amniotic fluid cell in situ culture and karyotype preparation methods / 医学研究生学报

Objective　Amniotic fluid chromosome karyotype analysis is the golden standard for prenatal diagnosis of chromosome diseases, but its success rate is low due to many factors affecting amniotic fluid culture. The research aimed to investigate the relevant factors influencing the success rate of amniotic fluid cell in situ culture and explore the condition of karyotype preparation in order to establish a stable method to prepare amniotic fluid cell chromosome with high success rate.　Methods　Cell culture was done in amniotic fluid obtained from 435 pregnant women with prenatal diagnosis indications by amniocentesis. Statistical analysis was done on the relationship between the amount of amniotic fluid after centrifugal precipitation, the material of operation apparatus and the culture result, as well as the relationship between ambient temperature and humidity and karyotype dispersion degree.　Results　Successful culture was obtain in 406 cases out of 435 cases, with the success rate being 93.3%. According to the culture result, compared with white cell mass group, the culture success rates were significantly reduced in mass brown cell group and mass fresh red cell group (P<0.01). Compared with mass fresh red cell group, the culture success rate was significantly reduced in small fresh red cell group (P<0.01). Compared with the plastic group, the culture success rate was significantly increased in glass group (P<0.01). Compared with the plastic injector and other glass group, the culture success rate was significantly improved in glass group (P<0.05). The score of the karyotype dispersion degree showed slides made at 28℃of room temperature and 50% humidity were significantly better than those made at room temperature and humidity, 28℃ of room temperature and room humidity, room temperature and 50% humidity (P<0.01). Slides made at room temperature and 50% humidity were significantly better than those at room temperature and humidity, and 28℃ of room temperature and room humidity (P<0.01).　Conclusion　The methods including improving the technological level of amniocentesis, handling bloody amniotic fluid timely and correctly, and the application of glass injectors and other apparatus, can effectively improve the success rate of amniotic fluid cell culture. Controlling the environmental temperature and humidity (28℃,50%) in dispersion course contributes to qualified slides for karyotype analysis, providing safeguard for prenatal diagnosis.

Diagnostic value of water swallow test and simple two-step swallowing provocation test for aspiration in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD) / 中国实用内科杂志

OBJECTIVE: To explore the value of water swallow test(WST)and simple two-step swallowing provocation test(SSPT)in the diagnosis of aspiration in patients with acute exacerbation of chronic obstructive pulmonary disease. METHODS:87 hospitalized patients with acute exacerbation of chronic obstructive pulmonary disease were recruited from the First Affiliated Hospital of Guangzhou Medical University during the period between December 2014 to December 2015. RESULTS: The number of patients of grade1,2,3,4 and 5 of water swallow test successively were 44,39,4,0 and 0. Patients with positive aspiration by the first-step(water injection of 0.4 mL)and the second-step(water injection of 2.0 m L)were 16 and 0. Patients with positive aspiration by radionuclide imaging was 35. Comparison of radionuclide imaging, the rate of missed diagnosis applying water swallow test was high 37.3%(31/83). Both the water swallow test and simple two-step swallowing provocation test have poor consistency with radionuclide imaging in the diagnosis of aspiration in patients with acute exacerbation of chronic obstructive pulmonary disease(McNemar consistency test P=0.00).CONCLUSION: There is a high rate of missed diagnosis applying water swallow test and simple two-step swallowing provocation test to diagnosis aspiration in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD),and combined use of multiple assessment methods can reduce the missed diagnosis rate of aspiration.

Identification of active components in Longxue Tongluo Capsules against ischemic brain injury based on component-activity relationship / 中国中药杂志

Ten fractions(A-J) were prepared by separation of Longxue Tongluo Capsules(LTC) by using silica gel column chromatography and orthogonal experimental design,showing similar chemical profiles with different abundances of peaks.These ten samples were assessed with UHPLC-QE OrbitrapHRMS for 97 common peaks.For the pharmacological activity experiment,three kinds of in vitro cell models including lipopolysaccharide(LPS)-induced BV-2 microglial cells NO release model,oxygen-glucose deprivation/reoxygenation(OGD/R)-treated HUVEC vascular endothelial cells injury model,and OGD/R-treated PC-12 nerve cells injury model were employed to evaluated the bioactivity of each fraction.Based on the contribution of each identified component,grey relation analysis and partial least squares(PLS) analysis were performed to establish component-activity relationship of LTC,identify the potential active components.After that,validation of the potential active components in LTC was carried out by using the same models.The results indicated that 4 phenolic compounds including 7,4'-dihydroxyhomoisoflavanone,loureirin C,4,4'-dihydroxy-2,6-dimethoxydihydrochalcone,and homoisosocotrin-4'-ol,might be the active components for anti-neuroinflammation effect;five phenolic compounds such as 3,5,7,4'-tetrahydroxyhomoisoflavanone,loureirin D,7,4'-dihydroxyhomoisoflavane,and 5,7-dihydroxy-4'-methoxy-8-methyflavane,might have positive effects on the vascular endothelial injury;three phenolic compounds including 5,7,4'-trihydroxyflavanone,7,4'-dihydroxy-5-methoxyhomoisoflavane,and loureirin D,might be the active components in LTC against neuronal injury.

Analysis of NRXN1 gene deletion in an autistic patient / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a patient with autism.@*Methods@#High-throughput sequencing was carried out to detect copy number variations in the patient.@*Results@#DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.@*Conclusion@#Partial deletion of the NRXN1 gene may underlie the disease in this patient.

Expression of Krupple-like factor 6 and inducible nitric oxide synthase in apoptosis of RAW264.7 infected by pseudomonas aeruginosa supernatant / 中国药理学通报

Aim To detect the expression of Krupple-like factor 6 ( KLF6) and inducible nitric oxide syn-thase (iNOS) in mouse mononuclear macrophage leukemia cells infected with pseudomonas aeruginosa (PA) supernatant, and to investigate the role of KLF6 protein and iNOS protein in the apoptosis of RAW264. 7 infected with PA supernatant. Methods The effect of PA supernatant on the proliferation of RAW264. 7 was detected by MTT assay. The apoptotic rate was detected by flow cytometry. The morphological changes of RAW264.7 were detected by Hoechst 33342 staining. The effect of PA supernatant on KLF6 and iNOS protein expression was detected by Western blot. Results PA supernatant inhibited the proliferation of RAW264.7 in a concentration- A nd time-depend-ent manner. PA supernatant significantly increased the percentage of RAW264.7 apoptosis and promoted the expression of KLF6 and iNOS. Conclusions PA can inhibit the proliferation of RAW264. 7, which may induce apoptosis through KLF6 and iNOS protein expres-sion.

Analysis of NRXN1 gene deletion in an autistic patient / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with autism.@*METHODS@#High-throughput sequencing was carried out to detect copy number variations in the patient.@*RESULTS@#DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.@*CONCLUSION@#Partial deletion of the NRXN1 gene may underlie the disease in this patient.