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OBJECTIVE@#This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.@*METHODS@#We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.@*RESULTS@#The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.@*CONCLUSION@#Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Subject(s)
Humans , beta-Thalassemia/genetics , alpha-Thalassemia/genetics , Hemoglobinopathies/genetics , China/epidemiology , High-Throughput Nucleotide SequencingABSTRACT
Objective@#Sex differences have been observed in many aspects of schizophrenia, including cognitive deficits. Despite extensive research into the relationship between metabolic factors and cognitive deficits in schizophrenia, few studies have explored the potential sex difference in their association. @*Methods@#We recruited 358 schizophrenia patients and 231 healthy controls. The participants underwent measurements of body mass index (BMI), waist circumference, blood pressure, triglycerides, high-density lipoprotein cholesterol, and fasting blood glucose. Metabolic risk factors included abdominal obesity, hypertension, hyperglycemia, and dyslipidemia. A collection of these metabolic risk factors has been defined as metabolic syndrome. These diagnoses were based on the criteria of the National Cholesterol Education Program’s Adult Treatment Panel III. Cognitive performance was measured using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). A descriptive analysis, difference analysis, and linear regression model were used to identify the metabolic risk factors for cognitive function in schizophrenia. @*Results@#Our findings revealed sex differences in the rate of abdominal obesity and hypertension in schizophrenic patients. Additionally, we observed sex differences in the association between metabolic risk factors and cognitive impairment in schizophrenia. Specifically, hyperglycemia was associated with the immediate memory index score of RBANS in male patients, while dyslipidemia was associated with language, attention, delayed memory index scores, and RBANS total score in female patients. @*Conclusion@#Our results suggest that sex should be considered when evaluating the impact of metabolic disorders on the cognitive function of schizophrenic patients. Moreover, our study identifies hyperglycemia and dyslipidemia as potential targets for precise treatment by sex stratification, which could benefit the improvement of cognitive impairment in schizophrenic patients.
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Objective:To investigate the feasibility of immoribund skin fibroblast cell line derived from Leber's hereditary optic neuropathy (LHON) patients as a cell model.Methods:A basic research. Two LHON patients and 2 healthy volunteers were recruited from Department of Ophthalmology of Genetic Clinic of Henan Provincial Eye Hospital. The skin tissue of participants was obtained, and the 4 immortalized skin fibroblasts were constructed by SV40 virus infection, including 2 LHON patient cells (LHON-1 and LHON-2 cells) and 2 healthy volunteers cells (NC-1 and NC-2 cells). Mitochondrial morphology in cells was observed by electron microscope. The levels of reactive oxygen species (ROS), nicotinamide adenine dinucleotide-oxidation state (NAD +), nicotinamide adenine dinucleotide-reduction state (NADH) and adenosine triphosphate (ATP) in fibroblasts were detected. Cellular oxygen consumption was measured by seahorse mitochondrial pressure assay. Cell viability was detected using cell counting kit-8 (CCK8). One-way ANOVA was performed to compare the levels of ROS, NAD +, NADH and ATP in LHON and NC cells, as well as basal oxygen consumption, maximal oxygen consumption, ATP-coupled oxygen consumption, and cell viability. Results:Compared with NC-1 and NC-2, the number of mitochondrial crest in LHON fibroblasts was significantly reduced, indicating abnormal mitochondrial morphology. Biochemical analysis showed that ROS levels in LHON cells increased, but NAD +/NADH and ATP levels decreased, and the oxygen consumption was significantly inhibited, indicating the presence of mitochondrial damage and respiratory dysfunction. The results of CCK-8 detection showed that the survival ability of LHON-1 and LHON-2 cells was worse under stress conditions. Conclusion:Immortalized skin fibroblast cell lines from LHON patients presented mitochondrial dysfunction.
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Objective: Sialic acid (SA)-modified chlorogenic acid (CA) liposomes (CA-SAL) was prepared by response surface design to investigate its in vitro cytotoxicity and uptake. Methods: CA-SAL was prepared by a modified reverse-phase ethanol injection method. Sephadex G50 column was used to separate the CA-loaded liposomes and the free CA. The drug concentration was determined by HPLC method and the encapsulation efficiency was calculated. With encapsulation efficiency and drug loading as indicators, Box-Behnken response surface design experiments were used to optimize the prescription process of CA-SAL. The MTT method was used to evaluate the cytotoxicity of CA-SAL on human lung cancer cells A549. Inverted fluorescence microscope was used to investigate the uptake of CA-SAL by A549 cells. Results: The optimized preparation conditions: hydrogenated soybean lecithin-CA ratio at 15:1, hydration temperature 60 ℃, ultrasonic power 400 W. The average particle size of CA-SAL was (90.13 ± 0.51) nm, the polydispersity index (PDI) was 0.16 ± 0.01, the zeta potential was (-25.3 ± 0.5) mV, the encapsulation efficiency was 57.8%, RSD was 0.1%. MTT results showed that the inhibitory effect of CA-SAL on A549 cells was significantly greater than CA-CL. Greater cellular uptake of CA-SAL was observed compared with CA-CL. Conclusion: CA-SAL prepared by response surface optimization has a uniform particle size and good stability. SA-modified CA-loaded liposomes could enhance cellular uptake and cytotoxicity of human lung cancer cell A549 in vitro.
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Objective ToinvestigatethevalueofimagetextureanalysisbasedonconventionalMRimagesinthedifferentialdiagnosisof intracranialsolitaryfibroustumor/hemangiopericytoma(SFT/HPC)andvascularmeningiomas.Methods 12casesofSFT/HPCand 16casesofvascularmeningiomaconfirmedbypathologywerecollected.Variousdiscriminantanalysismethodsandimagetextureanalysis techniqueswereappliedtopre-operativeroutineMRIimagesofthebrain,andthebesttextureparameterswereselectedtoclassify cases,includinglineardiscriminantanalysis(LDA),nonlineardiscriminantanalysis(NDA),principalcomponentanalysis(PCA)and rawdataanalysis(RDA).Finally,thebestclassificationsequencetextureparameterswerechosenforstatisticalanalysis.Results The enhancedT1WIwasthebestclassificationsequence.ThePOE+ACC methodhadthelowestmisclassificationrate.Theabsolutegradient skewness,theautocorrelationofthecooccurrencematrix,andthevarianceofthehistograminthetexturefeaturesoftheSFT/HPC andvascularmeningiomasweredifferent(P<0.05).Conclusion ThatbasedontheconventionalMRimagetextureanalysiscanprovidemore quantitativeinformation,anew methodandideafortheidentificationofintracranialSFT/HPCandvascularmeningioma.
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Objective: To design osteotomy templates for the construction of mandibular defect by using fibular flap in a reverse engineering technique approach. Methods: Five patients with mandibular defect were enrolled and their treatments were designed in a three-dimensional (3D) virtual planning software package. The 3D printing model with shaped reconstruction plate and titanium-screws were under CT scanning and the image was reconstructed and registered back to the original mandible and fibula in a surface-best-fit method. Then the osteotomy template with screw holes of shaped reconstruction plate was designed and fabricated. The reconstruction of mandible with multiple fibular segments was guided by the osteotomy template. Results: All the five patients were discharged successfully with satisfied outcome. The deviation between virtual plan and actual results were calculated: max deviation (3.53±2.33) mm and the angle deviation 3.31˚±1.48˚. Conclusion: The accuracy of the osteotomy template is satisfied and can be applied to the clinical use.
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Objective To investigate the practical value of a logistic regression model of serum indexes in distinguishing between geriatric depression and geriatric depressive state. Methods A total of 160 patients were recruited from the outpatient department from January 2013 to January 2016 ,and were divided into a depression group (n= 80)and a depressive state group (n= 80) ,with retrospective diagnoses based on the Chinese Classification of Mental Disorders-Third-Edition(CCMD-3).Serum samples were collected and enzyme linked immunosorbent assays (ELISA)were used to determine the concentrations of brain-derived neurotrophic factor (BDNF ) ,glial cell line-derived neurotrophic factor(GDNF) ,fibroblast growth factor 2(FGF-2) ,vascular endothelial growth factor (VEGF) ,interleukin-1β(IL-1β) ,interleukin-6 (IL-6) ,interleukin-10 (IL-10) ,tumor necrosis factor-α(TNF-α) ,cortisol (CORT ) ,and platelet-derived growth factor (PDGF).Binary logistic regression analysis was used to establish the regression model ,and the ROC curve was drawn to explore its value of differentiating geriatric depression from depressive state. Results The levels of serum BDNF , GDNF and VEGF in the depression group were lower than those in the depressive state group (BDNF :208.7 ± 41.4 vs.262.9 ± 84.6 ng/L ,GDNF :92.3 ± 18.6 vs. 101.4 ± 30.9 ng/L ,VEGF :223.1 ± 98.2 vs. 257.8 ± 77.2ng/L) ,while the levels of IL-1βand CORT in the depression group were higher than in the depressive group(IL-1β:27.0 ± 4.9 vs.19.6 ± 5.7 μg/L ,CORT :96.3 ± 16.7 vs.83.0 ± 17.3 nng/L).In multivariate logistic regression analysis ,BDNF(OR = 0.987 ,P = 0.001) ,IL-1β(OR =1.29 ,P = 0.000)and CORT (OR = 1.065 ,P = 0.000)were selected to build the regression model. The regression equation was P=1/[1+e-(- 8.546 - 0.013(BDNF)+ 0.258(IL -1β)+ 0.063(CORT)) ]and the area under the ROC curve was 0.966.Compared with retrospective diagnoses made two weeks later ,the correct diagnosis rate of the logistic model was 90.47％. Conclusions The Logistic regression model of serum indexes can further differentiate between geriatric depression and depressive state which also offers additional benefits for the diagnosis ,differential diagnosis ,and treatment of depression.
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Objective To evaluate cerebral parenchymal atrophy of patients with Alzheimer's disease(AD)through the compara-tive analysis of the volume and morphology of the brain ventricle between patients with AD and normal elderly.Methods 20 patients with AD and 20 normal elderly people were scanned at 3.0T MR,and lateral ventricle section images were achieved,and the lateral ventricle volume and the anterior horn,posterior horn and temporal horn of the lateral ventricle were calculated by analyzing the re-construction of section images with MIMICS software from Belgian.Results As compared with normal elderly group,the patients with AD exhibited significantly increased the volume of left ventricular volume(LV),right ventricular volume (RV)and total vol-ume (TV)(P<0.05).Angle of bilateral anterior horn and temporal horn but not posterior horn of the lateral ventricle in patients with AD were significantly higher than that in normal elderly (P<0.05).The volume of the left,right and total cerebral ventricle, the angle of the anterior horn of the left and right lateral ventricle and the angle of the temporal horn of the left and right lateral ven-tricle were negatively correlated with MMSE (P<0.05).Conclusion Patients with AD exhibites significantly greater volume and an-gle of the lateral ventricular than normal elderly people.These related data measured can predict brain parenchymal atrophy of pa-tients with AD more conveniently and accurately.
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Objective:To optimize the ultrasound-assisted extraction process of total flavonoids in Vaccinium bracteatum Thunb. leaves. Methods:The single factor test and orthogonal test were adopted with the content of total flavonoids as the index, and the ultra-sound-assisted extraction was optimized with the concentration of solvent, extracting time, ratio of raw material to liquid and extraction times as the factors. Results:The optimal extraction conditions were 70% ethanol with 40-fold volume, extracting 2 times with 30 mi-nutes per time. Conclusion:The extraction process is stable and feasible, and all the results are useful references for the extraction process improvement.
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<p><b>OBJECTIVE</b>To establish a IE-HPLC method for the determination of trigonelline in the fruit and seed of Quisqualis indica.</p><p><b>METHOD</b>The method was carried out by using Sperisorb SCX column with a mobile phase consisting of 20 mmol x L(-1) phorsphate (pH3.2, titrate a 20 mmol x L(-1) monsodium salt with a 20 mmol x L(-1) solution of phosphoric acid), flow rate of 1.0 mL x min(-1), and the detection at 265 nm.</p><p><b>RESULT</b>By using SCX-modified silica column, trigonelline in Fructus Quisqualis can be baseline separated and determinated. The retention mechanisms proved to be contributed mainly by ion-exchange with the SCX moieties. The validity of methods was demonstrated with respect to linearity, precision, reproducibility and recovery. It was found that there was no trigonelline occurring in the peel of Fructus Quisqualis.</p><p><b>CONCLUSION</b>This assay method can be used for the quality control of Fructus Quisqualis.</p>
Subject(s)
Alkaloids , Chromatography, High Pressure Liquid , Methods , Combretaceae , Chemistry , Fruit , Chemistry , Plants, Medicinal , Chemistry , Quality Control , Seeds , ChemistryABSTRACT
<p><b>BACKGROUND</b>To confirm if Puumala like viruses exist in China.</p><p><b>METHODS</b>RNA was extracted from lungs of bank voles captured in the Northeast China, partial S segments genome of Puumala viruses were amplified and sequenced.</p><p><b>RESULTS</b>926 bp cDNA of S segments of Puumala like virus was amplified and sequenced. The phylogenetic analysis revealed that the Puumala like viruses found in China were most close to that found in Far East region of Russia.</p><p><b>CONCLUSIONS</b>Puumala like virus does exist in Northeast China, and the nucleotides sequence of the viruses have high homolog to Puumala viruses found in Russia.</p>