Objective To evaluate the image quality and registration accuracy of a three?dimensional ( 3D ) dynamic phantom in four?dimensional computed tomography ( 4DCT ) and four?dimensional cone?beam computed tomography ( 4DCBCT) . Methods The Computerized Imaging Reference Systems Dynamic Thorax Phantom Model 008A was scanned to get 4DCT and 4DCBCT images. Two balls with different diameters ( ?= 1 cm and ?= 2 cm) were used to simulate tumors with different sizes. The motion mode of the balls was 3D sinusoidal motion at 0?25 Hz ( the amplitudes along the x, y, and z axes were ±1?0 cm, ±0?4 cm, and ±0?2 cm, respectively). Gross target volumes (GTVs) from 10?phase bins, internal gross target volumes (IGTV), and target volumes on maximum intensity projection (MIP) and mean intensity projection (MeanIP) images were contoured and calculated. Target volumes on 4DCT or 4DCBCT images were compared with the static and dynamic volumes of the balls ( VS and VD ) . The matching index ( MI) of target volumes between the 4DCT and 4DCBCT images was analyzed after rigid image registration. Results The GTV in each phase of the image was larger than VS . The difference between the average GTV derived from 10 phases of 4DCT or 4DCBCT images and Vs of the small ball was larger than that of the large ball ( 35?03% vs. 22?66%;32?62% vs. 17?00%) . All the IGTVs and target volumes on MIP images were slightly larger than VD , but target volumes on MeanIP images were smaller than VD . The average MI of 10?phase bins of the small ball was smaller than that of the large ball ( 66?76% vs. 82?21%) . Moreover, MIs of IGTV,MIP, and MeanIP of the small ball were also smaller than those of the large ball ( 77?39% vs. 90?29%;75?90% vs. 89?28%;74?47% vs. 82?74%) . Conclusions In the case of a relatively small tumor volume and a relatively large motion amplitude, 4DCT and 4DCBCT should be used with caution for comparison of image registration.

OBJECTIVETo investigate the genetic polymorphisms of 11 Y-chromosomal short tandem repeats (STR) loci in Chongqing Tujia population, and to evaluate their forensic application values and genetic relationships with the other 16 populations of China.

METHODSEleven Y-STR loci in 215 unrelated Tujia individuals from Chongqing were amplified with PowerPlex Y System, and the PCR products were analyzed by 310 Genetic Analyzer. Cluster analysis and phylogenic trees were applied to show the genetic distance among the populations.

RESULTSA total of 195 haplotypes were identified and the overall haplotypes diversity for the 11 Y-STR loci was 0.9942. The gene diversity values (GD) for each locus ranged from 0.3757 (DYS391) to 0.9170 (DYS385a/b). Comparing with other 16 populations, the genetic distance between Tujia and Tibetan was the nearest (0.02467), that between the Tujia and Korean ethnic groups was the farthest (0.25350).

CONCLUSIONThe genetic distribution of the 11 Y-STR loci in Chongqing Tujia population showed favorable polymorphisms. They are suitable for forensic identification and paternity testing in the local area. The study of genetic diversity among different populations is useful in understanding their origins, migrations and their relationships.

China ; ethnology ; Chromosomes, Human, Y ; Ethnic Groups ; ethnology ; genetics ; Genetic Variation ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic ; Population Groups ; genetics

OBJECTIVETo investigate the genetic polymorphisms of 11 Y-chromosomal short tandem repeats (Y-STR) loci in 484 male individuals from two minority populations, the Hui and Xibe, of Liaoning province, and to evaluate their forensic application values and genetic relationships with other 15 populations of China.

METHODSEleven Y-STR loci in all samples were amplified with PowerPlex Y System, and the PCR products were analyzed by 310 Genetic Analyzer. Cluster analysis and neighbor-joining tree were applied to show the genetic distance among the populations.

RESULTSIn Hui people, 187 haplotypes were identified, and the overall haplotype diversity value was 0.9990. The gene diversity values (GD) for each locus ranged from 0.4783(DYS437) to 0.9679(DYS385a/b); In Xibe people, 237 haplotypes were identified, and the overall haplotype diversity value was 0.9984. The GD value for each locus ranged from 0.3618(DYS391) to 0.9686(DYS385a/b). Comparing with 15 reference populations, the genetic distance between the Hui and Xibe was the nearest (0.0257), and that between the Hui and Yi was the farthest (0.1046), while the genetic distance between Xibe and Korean was also the farthest (0.0978). The NJ tree was similar to the results of clustering analysis and all the 17 populations were clustered into 3 groups.

CONCLUSIONThe genetic distribution of the 11 Y-STR loci in Liaoning Hui and Xibe ethnic groups showed favorable polymorphisms, therefore are suitable for forensic identification and paternity testing in the local area. The study of haplotype diversity among different populations is useful in understanding their origins, migrations and their relationships.

Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Y ; Ethnic Groups ; classification ; genetics ; Genetics, Population ; Haplotypes ; Humans ; Male ; Minority Groups ; Phylogeny ; Polymorphism, Genetic ; Tandem Repeat Sequences ; genetics

【Objective】 To investigate the association between fetal fraction(FF) of cell-free DNA and adverse pregnancy outcomes. 【Methods】 A retrospective case-control study was conducted in 1 231 Chinese pregnant women who underwent non-invasive prenatal testing and gave birth to their children in the Third Affiliated Hospital of Sun Yatsen University during January 2017 to October 2018, including HDP group(n = 84), FGR group(n = 57) and preterm birth group(n = 59) as case groups, and the pregnant women without pregnancy-related complications were included in the control group(n = 1 031). The correlation between FF and maternal age, gestational weeks, body mass index(BMI), and comparison of FF difference in different groups were analyzed. 【Results】 In 1 031 normal pregnant women performed NIPT, the plasma FF was(12.03 ± 3.64) %, FF and maternal BMI were negatively correlated(rs = -0.079, P < 0.05). FF in HDP, FGR, preterm birth group were(11.21 ± 2.60) %, (12.48 ± 3.92) %, (11.66 ± 3.34) % , respectively. Compared with control group, FF in HDP group was statistically lower, OR = 0.926, 95%CI: 0.859-0.997, P = 0.043. FF in FGR group and preterm birth group were not statistically different compared with control group. 【Conclusions】 Low FF is a risk factor of HDP, and we may apply FF of cell-free DNA to predict the risk of HDP in further research. The correlation of FF and FGR, preterm birth have not been found yet.

This study was designed to reverse multidrug resistance of lung cancer cells by downregulating MDR1 genes through RNA interference (RNAi) technology. A novel biodegradable cationic polymer (PEG-bPLG-g-PEIs, GGI) was synthesized and characterized by ¹H NMR. The particle size and zeta potential were measured by dynamic light scattering (DLS). The cell viability profile of GGI was tested by MTT method with both A549 and A549/DDP cell lines. Flow cytometry (FCM) technology was used to investigate the efficiency and intensity of delivering siRNA to cells by GGI polymer. RT-PCR and Western blot were used to detect the mRNA and P-gp expression after GGI/MDR1 siRNA transfection assay. The sensitivity of cisplatin administration after transfecting GGI/MDR1 siRNA polyplexs was performed with MTT and Annexin V-FITC/PI methods. The results suggest that the particle size and zeta potential of GGI/siRNA were 150-200 nm and 16-28 mV. GGI exhibited a lower cell cytotoxity than PEI 25K and higher efficiency of delivering siRNA, which dramatically decreased the expression of MDR1 mRNA and P-gp of A549/DDP cells and increased much sensitivity to cisplatin in A549/DDP cells. GGI holds a great potential in gene delivery as a novel cationic polymer for further investigation.

OBJECTIVETo study genetic polymorphisms of 20 Y-chromosomal short tandem repeats (STR) in Chaoshan Han population, and to evaluate their value in forensic science.

METHODSTwenty Y-specific STR loci (DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635 and DYS709) were amplified by using three fluorescence-labeled multiplex PCR systems and were analyzed by ABI310 genetic analyzer. One hundred and fifty-eight unrelated male individuals of Han population in Chaoshan area were investigated to determine the distribution of allele frequencies and haplotype.

RESULTSThe Y-STR multiplexes developed had followed the published nomenclature and ISFG guidelines for STR analysis. Gene diversity ranged from 0.2506 at DYS434 to 0.8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was found for two times. The haplotype diversity value calculated from all 20 loci combined was 0.999998. None of Y-STR allele mutation was observed in the 30 father/ son pairs confirmed by autosomal STR analysis.

CONCLUSIONThe results indicate that the 20 Y-STR loci are highly polymorphic and fathership genealogy inheritance are stable. The three fluorescence-labeled multiplex amplification systems that we constructed are suitable for forensic individual identification and paternity testing in Chaoshan area.

Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Y ; genetics ; Ethnic Groups ; genetics ; Female ; Fluorescence ; Forensic Genetics ; Gene Amplification ; genetics ; Gene Frequency ; Haplotypes ; genetics ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic ; Software

BACKGROUNDThe cell layer of the ciliary epithelium is responsible for aqueous humor secretion and maintenance. Ion channels play an important role in these processes. The main aim of this study was to determine whether the well-characterized members of the Kv1 family (Kv1.3) contribute to the Kv currents in ciliary epithelium.

METHODSNew Zealand White rabbits were maintained in a 12 hours light/dark cycle. Ciliary epithelium samples were isolated from the rabbits. We used Western blotting and immunocytochemistry to identify the expression and location of a voltage-gated potassium channel Kv1.3 in ciliary body epithelium. Membrane potential change after adding of Kv1.3 inhibitor margatoxin (MgTX) was observed with a fluorescence method.

RESULTSWestern blotting and immunocytochemical studies showed that the Kv1.3 protein expressed in pigment ciliary epithelium and nonpigment ciliary epithelium, however it seemed to express more in the apical membrane of the nonpigmented epithelial cells. One nmol/L margatoxin, a specific inhibitor of Kv1.3 channels caused depolarization of the cultured nonpigmented epithelium (NPE) membrane potential. The cytosolic calcium increased after NPE cell depolarization, this increase of cytosolic calcium was partially blocked by 12.5 micromol/L dantrolene and 10 micromol/L nifedipine. These observations suggest that Kv1.3 channels modulate ciliary epithelium potential and effect calcium dependent mechanisms.

CONCLUSIONKv1.3 channels contribute to K+ efflux at the membrane of rabbit ciliary epithelium.

Animals ; Blotting, Western ; Calcium ; metabolism ; Ciliary Body ; cytology ; metabolism ; physiology ; Immunohistochemistry ; In Vitro Techniques ; Kv1.3 Potassium Channel ; metabolism ; physiology ; Membrane Potentials ; physiology ; Pigment Epithelium of Eye ; cytology ; metabolism ; physiology ; Rabbits

OBJECTIVETo evaluate chest radiographic findings of children with 2009 influenza (H1N1) virus infection.

METHODData of 235 patients who had microbiologically confirmed H1N1 infection and available chest radiograph obtained between May 1(st) 2009 and Jan. 31(st) 2010 were retrospectively analyzed. The final study group was divided on the basis of clinical course [group 1 mild, outpatients without hospitalization (n = 172); group 2 moderate, inpatients with brief hospitalization (n = 49); group 3 severe, ICU admission (n = 14)]. Four pediatric radiologists reviewed all the chest radiographs of lung parenchyma, airway, pleural abnormalities and also anatomic distribution of the disease.

RESULTNo significant sex or age differences were found among the study groups (P > 0.05). The mean interval between the onset of clinical symptom and the initial chest radiography was (5.91 ± 1.64) days (group 1), (3.60 ± 1.43) days (group 2) and (1.21 ± 0.41) days (group 3), respectively. The differences among the three groups were significant statistically (χ(2) = 13.368, P < 0.01). The ratio of abnormality presented at initial chest X-ray was 79.7% in group 1, 91.8% in group 2 and 100% in group 3. Radiographically, there were prominent peribronchial markings (group 1, 55.2%; group 2, 83.7%; and group 3, 78.6%), consolidation (group 1, 34.3%; group 2, 69.4%; and group 3, 100.0%), hyperinflation (group 1, 22.1%; group 2, 44.9%; and group 3, 50.0%) and ground glass opacity (group 1, 0.6%; group 2, 2.0%; and group 3, 14.3%) in the chest radiographs. The differences of presenting were statistically significant (P < 0.01). In the severe group, the lesions distributed diffusely and asymmetrically with multi-lobe involvements.

CONCLUSIONIn children with 2009 influenza A H1N1 viral infection, the interval between the onset of clinical symptom and initial chest radiography, the ratio of abnormality presented at initial chest X-ray film and the severity of chest film are parallel to their clinical situation.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Influenza A Virus, H1N1 Subtype ; Influenza, Human ; diagnostic imaging ; virology ; Male ; Retrospective Studies ; Tomography, X-Ray Computed

BACKGROUNDImage guided radiotherapy (IGRT) is a new precise radiotherapy applied in clinic. The aim of this study is to evaluate the impact of using active breath control (ABC) and stereotactic body frame on reducing the positioning error and increasing treatment precision during radiotherapy for pulmonary cancer.

METHODSSeven patients with pulmonary recurrences or metastasis after prior treatment were enrolled. A total number of 13 tumor targets received irradiation, with a fraction dose of 7Gy treated every other day to a total of 7 fractions. X-ray beam volume CT was done at every fraction for correction of positioning error at 3 dimensions.

RESULTSThe errors between pre-treatment positioning and treatment planning at left-right, anterior-posterior and cephalic-caudal directions were 0.30cm±0.14cm, 0.22cm±0.15cm and 0.28cm ±0.21cm, respectively. The positioning error was reduced after correction by volume CT and after treatment but the errors between pre-correction, post-correction and post-treatment had no statistical significance at all 3 directions. Eight targets had complete response, 4 targets had partial response, and 1 had no change.

CONCLUSIONSImage guided hypofractionation radiotherapy with ABC and stereotactic body frame has the advantage of increasing radiation dose and reducing overall treatment time and radiation toxicity.

Objective:To analyze the mutant spectrum of clonal hematopoiesis of indeterminate potential(CHIP)related mutations and clinical characteristics and to explore the correlation and the possible mechanism between CHIP-related mutations and cardio-cerebrovasculars events(CCEs)in patients with myeloproliferative neoplasms(MPNs).Methods:The clinical data and next-generation sequencing results of 73 MPN patients in Beijing Anzhen Hospital from August 2019 to July 2022 were retrospectively analyzed.Statistical analyses were conducted by multivariate logistic regression for the effects of CHIP-related mutations and inflammatory cytokines on CCEs for MPNs patients.Results:Fifty-five cases of MPN(75.3％)showed positive in CHIP-related genes.There was no significant difference in variant allele frequency of CHIP-related gene between essential thrombocythemia(ET)and polycythemia vera(PV).CHIP-related gene mutations were mainly single gene mutations,with mutation rate from high to low as JAK2V617F(63.0％,46/73),ASXL1(16.4％,12/73),TET2(11.0％,8/73),DNMT3A(9.6％,7/73),SRSF2(6.9％,5/73),SF3B1(4.1％,3/73),TP53(1.4％,1/73)and PPM1D(1.4％,1/73).The mutation rate of CHIP-related genes in MPN patients＞60 years old was significantly higher than that in the patients ≤ 60 years old[91.7％(33/36)vs 59.5％(22/37)].CCEs occurred in 27 MPNs patients(37.0％,MPNs/CCEs),and 5 had recurrent CCEs,all of which were arterial events.Age(62.8±12.8 years vs 53.9±15.8 years,P=0.015),IL-1β level(17.7±26.0 vs 4.3±8.6,P=0.012),IL-8 level(360.7±598.6 vs 108.3±317.0,P=0.045),the proportion of the patients with thrombosis history(29.6％vs 2.2％,P=0.020),and the detection rate of CHIP-related mutations(88.9％vs 67.4％,P=0.040)in the group with CCEs were higher than those in the group without CCEs.Multivariate Logistic regression analysis showed that age(OR=0.917,95％CI:0.843-0.999,P=0.047),thrombosis history(OR=34.148,95％CI·2.392-487.535,P=0.009),any CHIP-related mutations(OR=16.065,95％CI·1.217-212.024,P=0.035),and elevated levelofIL-1β(OR=0.929,95％CI:0.870-0.992,P=0.027)were independent risk factors for MPNs/CCEs.CHIP-related gene mutations were not associated with CCEs in MPN patients,but DNMT3A(OR=88.717,95％CI:2.690-292.482,P=0.012)and ASXL1(OR=7.941,95％CI:1.045-60.353,P=0.045)were independent risk factors for CCEs in PV.Conclusion:There is a higher mutation rate of CHIP-related genes in MPN patients,especially those over 60 years old.Older age,thrombosis history,CHIP-related mutations and IL-1βelevated levels are independent risk factors for CCEs in MPN.DNMT3A and ASXL1 mutations are independent risk factors for CCEs in PV patients.CHIP-related gene mutations and inflammatory cytokine IL-1 β elevated levels may be the novel risk factors for CCEs in MPN.