Carrier screening and prenatal diagnosis for thalassemia-associated mutations in Jiaxing area of Zhejiang / 中华医学遗传学杂志

OBJECTIVE@#To study the molecular epidemiology of thalassemia in Jiaxing area of Zhejiang province and provide a basis for prenatal diagnosis, genetic counseling and prevention and control of birth defects.@*METHODS@#A total of 24 003 pregnant women who presented at the Jiaxing Maternal and Child Health Care Hospital from April 2017 to September 2021 were enrolled. Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. Prenatal diagnosis was provided for couples with a risk of giving birth to children with intermediate or severe thalassemia.@*RESULTS@#Among the 24 003 pregnant women, 1 211 cases were suspected as carriers of thalassemia-associated mutations, among whom 443 (36.58%) were confirmed by genetic testing. Among these, carriers of α-, β- and α-complex β-globin gene mutations have accounted for 27.31% (121/443), 70.65% (313/443) and 2.04% (9/443), respectively. The result of prenatal diagnosis for an at-risk couple was --SEA/αCSα, and the fetus was predicted to have intermediate or severe thalassemia. Termination of the pregnancy was recommended.@*CONCLUSION@#Hemoglobin electrophoresis combined with routine blood test during pregnancy may be used as a preliminary screening measure for carriers of thalassemia-associated variants. Combined with genetic testing, this will be of great significance for the control of thalassemia in this region.

Incidence and genetic reproductive characteristics of AZFc microdeletion among patients with azoospermia or severe oligospermia / 中华医学遗传学杂志

OBJECTIVE@#To explore the incidence of azoospermia factor c (AZFc) microdeletion among patients with azoospermia or severe oligospermia, its association with sex hormone/chromosomal karyotype, and its effect on the outcome of pregnancy following intracytoplasmic sperm injection (ICSI) treatment.@*METHODS@#A total of 1 364 males with azoospermia or severe oligospermia who presented at the Affiliated Maternity and Child Health Care Hospital of Jiaxing College between 2013 and 2020 were subjected to AZF microdeletion and chromosome karyotyping analysis. The level of reproductive hormones in patients with AZFc deletions was compared with those of control groups A (with normal sperm indices) and B (azoospermia or severe oligospermia without AZFc microdeletion). The outcome of pregnancies for the AZFc-ICSI couples was compared with that of the control groups in regard to fertilization rate, superior embryo rate and clinical pregnancy rate.@*RESULTS@#A total of 51 patients were found to harbor AZFc microdeletion, which yielded a detection rate of 3.74%. Seven patients also had chromosomal aberrations. Compared with control group A, patients with AZFc deletion had higher levels of PRL, FSH and LH (P < 0.05), whilst compared with control group B, only the PRL and FSH were increased (P < 0.05). Twenty two AZFc couples underwent ICSI treatment, and no significant difference was found in the rate of superior embryos and clinical pregnancy between the AZFc-ICSI couples and the control group (P > 0.05).@*CONCLUSION@#The incidence of AZFc microdeletion was 3.74% among patients with azoospermia or severe oligospermia. AZFc microdeletion was associated with chromosomal aberrations and increased levels of PRL, FSH and LH, but did not affect the clinical pregnancy rate after ICSI treatment.

Genetic polymorphism and antibody screening of RhD negative Chinese Han population in Jiayuguan / 中国输血杂志

【Objective】 To investigate and analyze the polymorphism of RHD gene in RhD-negative population in Jiayuguan using molecular biological technique, so as to accurately identify RhD-negative individuals, and formulate individualized transfusion strategies. 【Methods】 The RhD negative voluntary blood donors and patients (mainly pregnant women) were recruited. After informed consent, history of blood transfusion and pregnancy of them were investigated, and samples were collected for negative D confirmation, gene sequencing as well as antibody screening and identification. 【Results】 Among the 96 samples, 73 cases were RHD gene deletion, 18 RHD*01EL.01(17 RHD1227A homozygous type and 1 RHD1227A heterozygous type), 2 weak RHD*15 type (845G/A), 1 partial D type, i. e. RHD-CE(7) -D heterozygous allele, and 2 RHD*01N.16 variant. Antibody was detected out in 4 cases, among which 2 were positive for anti-D, 1 anti-D plus anti-E, and 1 anti-Dia. 【Conclusion】 The proportion of DEL gene in RhD negative Chinese Han population in Jiayuguan is slightly lower than that in general Chinese Han population. No anti-D or RHD-HDN was observed in DEL type women due to multiple pregnancy or delivery of D positive newborns.

Application of non-invasive prenatal testing for the screening of fetal chromosomal abnormalities in 12 085 cases / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the screening of fetal chromosomal abnormalities.@*METHODS@#For 12 085 pregnant women, the results of NIPT and invasive prenatal diagnosis were compared.@*RESULTS@#The test was successful in 12 067 cases and has detected 179 chromosomal abnormalities, with a positive rate of 1.48%, sensitivity of 98.39% and specificity of 99.02%. Invasive prenatal diagnosis was performed for 3 of 18 patients who had failed NIPT but has detected no karyotypic abnormality. Except for one case of twin Cesarean section which delivered a normal female fetus and a stillbirth of unknown sex, the remainder of the 18 cases all had a normal delivery. The positive rate of NIPT screening for the abnormal ultrasound group was significant higher than that other groups (P< 0.01). Among those with positive results of NIPT, 122 underwent invasive prenatal diagnosis, and 25 trisomy 21, 7 trisomy 18, 3 trisomy 13, 4 aneuploidies of other autosomes, 13 sex chromosomal aneuploidies and 9 microdeletion/microduplications were confirmed, which yielded a positive predictive rate of 86.21%, 50.00%, 23.08%, 21.05%, 46.43%, and 47.36%, respectively.@*CONCLUSION@#NIPT has high sensitivity, specificity and positive predictive value, and is an effective method for prenatal screening. In addition to chromosomes 21, 18 and 13, NIPT has certain predictive value for other autosomal aneuploidies, sex chromosomal aneuploidies, microdeletion/microduplications, and can provide a reference for karyotype analysis and chromosomal microarray verification.

Identification and targets prediction of snoRNAs in α-particle induced carcinogenesis of human branchial epithelial cells / 中华放射医学与防护杂志

Objective:To identify the differentially expressed snoRNAs in the carcinogenesis of cells induced by α-particles radiation and predict the targeted genes and RNA-co-expression networks.Methods:Full transcriptome expression microarray biochips were employed to screen the differentially expressed snoRNAs between human bronchial epithelial BEP2D cell line and its derivative malignantly transformed cell line BERP35T-4 established by α-particle irradiation. The expression changes of snoRNAs and their derived sdRNAs were confirmed by qRT-PCR. The functional domains, targets and co-expression networks of snoRNA were predicted by bioinformatics analysis.Results:Consistent with the result of microarray assay, the expression changes of the screened snoRNAs were confirmed by qRT-PCR. The expressions of sno116 family decreased in BERP35T-4, which was 0.105% ( t=26.60, P<0.01) of BEP2D, and they were generally down-regulated in radiation-induced carcinogenic BERP35T-4 cells and the human lung cancer cell lines A549 and H1299. It was also found that the expression level of the sdRNAs derived from sno116-14 was significantly different in the same cells. It was speculated that these less expressed sdRNAs of sno116-14 could be due to degradation as the consequence of interaction with their targets. The co-expression networks of sno116 family with other types of RNA were established, and the predicted targets of sno116-14 included ZNF280D, TFDP1, CCDC28B, RPS6KA3, CANX, RUNX1 and KALRN, which were related to the functions of cell proliferation and cytoskeletal structure. Conclusions:Some differentially expressed snoRNAs related to α-particle induced carcinogenesis have been identified. It is predicted that the target gene of sno116-14 is involved in the biological processes such as cell proliferation, cytoskeletal structure and the signaling pathways for function regulation, providing new information for the function model of C/D box snoRNAs and the mechanism of radiation carcinogenesis.

Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.@*METHODS@#Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband.@*CONCLUSION@#The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.

Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with syndromic hearing loss.@*METHODS@#Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment.@*RESULTS@#The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth.@*CONCLUSION@#Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.

Clinical significances of additional chromosome abnormalities and t (15;17) in acute promyelocytic leukemia / 白血病·淋巴瘤

Objective To investigate the clinical significances of additional chromosome abnormalities and t(15;17) in acute promyelocytic leukemia (APL). Methods A total of 90 newly diagnosed APL patients in the Affiliated Hospital of Qingdao University from January 2007 to June 2014 were analyzed retrospectively. Patients with different chromosome karyotypes were divided into four groups: additional chromosome number abnormalities group (16 cases), additional chromosome structural abnormalities group (14 cases), additional chromosome number and structural abnormalities group (4 cases) and typical chromosome group (56 cases). According to whether the patient contained t(15;17), the patients were divided into group with t (15;17) and group without t (15;17). The short-term efficacy and survival of each group were analyzed and compared. Results The rate of complete remission in additional chromosome number abnormalities group, additional chromosome structural abnormalities group, additional chromosome number and structural abnormalities group and typical t(15;17) chromosome changes group were 56.3％(9/16), 100.0％(14/14), 25.0％(1/4) and 82.1％(46/56), the early mortality rates were 25.0％(4/16), 0 (0/14), 75.0％(3/4) and 8.9％ (5/56) respectively. Among them, the additional number and structural abnormalities group had lower complete remission rate and higher early mortality rate, and compared with other groups, the differences were statistically significant (all P< 0.05). The complete remission rates of the group with t (15;17) and the group without t (15;17) were 80.5％ (66/82) and 50.0％ (4/8), respectively, and the difference was not statistically significant (P= 0.070). Conclusions APL patients with karyotypes with additional number and structural changes have low complete remission rate, high early mortality rate and poor prognosis. Patients with t(15;17)have a high rate of complete remission.

Identification and bioinformatic function analysis of differentially expressed miRNAs in the exosomes secreted from BEP2D cells irradiated by γ-rays / 中华放射医学与防护杂志

Objective@# To identify the differentially expressed miRNAs in the exosomes secreted from γ-ray irradiated cells and provide new clues in disclosing the mechanisms of radiation-induced bystander effects.@*Methods@#The human bronchial epithelial cells (BEP2D) were irradiated with 60Co γ-rays, and the exosomes were collected by ultracentrifugation from the culture medium of 2 Gy-irradiated cells and non-irradiated control. The exosomes were identified by an electron microscopy. The miRNA microarray technique was used to analyze the miRNA expression profiles in the exosomes. qRT-PCR was used to verify the miRNAs expression. The functional pathways of miRNAs targeting genes were predicted by informatic analysis using the databases of TargetScan, miRanda, GO and KEGG.@*Results@#Sixteen miRNA with significantly increased expression (P<0.05) were identified in the exosomes of BEP2D cells at 4 h post-2 Gy irradiation as compared with the non-irradiated control cells, among which miR-100-5p, miR-1246, miR-29b-3p, and miR-7-5p were further confirmed to be unregulated by qRT-PCR assay (P<0.05). Meanwhile, the expression changes of above-mentioned four miRNAs were also investigated in the irradiated cells. The data indicated the expression was significantly increased at 2 h post-2 Gy irradiation for the miR-100-5p, miR-1246, miR-29b-3p in addition to miR-7-5p. However, all these four miRNAs were downregulated in the cells at 4 h post-irradiation and then gradually recovered. Bioinformatics analysis showed that the targeted genes of these differentially expressed miRNAs might participate in the biological processes and signal pathways of cell adhesion, mTOR signal pathway, chromatin modification, HR and NHEJ pathways of DNA repair and so on.@*Conclusions@# Radiation-inducible miRNAs have been identified in the exosomes from the irradiated BEP2D cells. The target genes of these miRNAs play roles in a series of important biological processes and functional pathways, which provides new clues in elucidating the mechanisms of radiation-induced bystander effects.

Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.</p><p><b>METHODS</b>The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.</p><p><b>RESULTS</b>The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.</p>

Identification and analysis of exosomal miRNAs in human umbilical vein endothelial cells irradiated by 60 Co γ-rays / 军事医学

Objective To study the changes in miRNAs expression in the exosomes of human umbilical vein endothelial cells(HUVECs) after 60 Co γ-rays expose using microRNA(miRNA) chips and bioinformatics techniques so as to provide new clues to the mechanism of radiation-induced vascular tissue injury and its bystander effects.Methods HUVECs exosomes were collected in the control and 4 Gy irradiated cells by ultra-high-speed centrifugation,and further confirmed using transmission electron microscopy (TEM) and Western blotting of exosomes biomarkers.miRNA microarray was used to analyze miRNA expression profiles of exosomes and cells.Also,real-time quantitative PCR(qRT-PCR) was used to verify differentially expressed miRNAs,and the miRDB and TargetScan were performed to predict the target genes of the differentially expressed miRNAs.Bioinformatics analysis was performed using DAVID,KEGG and other online tools.Results Compared with the control exosomes from non-irradiated HUVECs,miRNA microarray analysis revealed that 5 up-regulated,and 13 down-regulated miRNAs were identified in the exosomes from HUVECs at 0.5 h after 4 Gy-irradiation,and 16 up-regulated and 5 down-regulated miRNAs at 2 h after 4 Gy-irradiation.Moreover,38 and 85 miRNAs were differentially expressed respectively in the HUVECs at 0.5 h and 2 h after radiation.The difference was statistically significant(P<0.01).The results of bioinformatics showed that these miRNAs might exert the radiation-induced bystander effect (RIBE) by regulating MAPK signal pathways,RAS and PI3K-Akt signal pathways.Conclusion The ionizing radiation injury significantly alters the components and expression levels of exosomal miRNAs,which play important roles in regulating the signal pathways in response to radiation.

Screening and verifying the proteins interacting with phosphorylation cluster of DNA-PKcs by yeast two-hybrid assay / 中华放射医学与防护杂志

Objective To screen and verify the proteins interacting with phosphorylation cluster of DNA dependent protein kinase catalytic subunit((DNA-PKcs) by yeast two-hybrid assay.Methods To know the proteins interacting with DNA-PKcs phosphorylation cluster,yeast two-hybrid assay was applied to screen the cDNA library of human hepatic tissue with a previously constructed plasmid pGBKT7-DPC.The positive clones were further identified by PCR,rotary validation and sequence analysis.Then the eukaryotic expression vectors of the bait protein and screened positive clone proteins were constructed and transfected into human embryonic kidney 293T cells to detect whether the proteins could been expressed correctly.At last,the bait protein and screened positive clone proteins were co-transfected into 293T cells and protein interaction was detected with Co-Immunoprecipitation (Co-IP) assay.Results After two rounds of screening using the yeast two-hybrid assay,12 candidate clones were obtained.Then 7 clones with different insert fragments were identified by PCR,and 3 positive proteins interacted with DNA-PKcs phosphorylation cluster were further verified by rotary validation.Sequencing analysis demonstrated that these 3 proteins were MBNL1,SIK2 and YY1AP1,respectively.Accordingly,the eukaryotic expression vectors of bait protein and 3 positive clone proteins were constructed successfully and expressed correctly in 293T ceils.Finally,the Co-IP assay confirmed that these 3 positive clone proteins could interact with DNA-PKcs phosphorylation cluster.Conclusions Proteins interacting with DNA-PKcs phosphorylation cluster are successfully screened and identified.

Prediction of Myocardial Systolic Function Recovery with Myocardial Perfusion After Primary Percutaneous Coronary Intervention / 中国医学影像学杂志

Purpose To explore the predictive value of myocardial perfusion in assessing myocardial systolic function recovery after primary percutaneous coronary intervention (PPCI),in order to improve poor prognosis by early detection of myocardial no-reflow.Materials and Methods Forty nine patients with acute myocardial infarction (AMI) who had received PPCI were chosen as subjects.All the patients underwent two-dimensional strain (2DS) images and resting real-time myocardial contrast echocardiography (MCE) within one week after surgery,and 2DS measurement was repeated after three months.2DS imaging was used to acquire longitudinal peak systolic strain (LPSS) at all myocardial segments.Based on the graphs of LPSS,left ventricular myocardium was divided into normal contractile function myocardium (red) and impaired contractile function myocardium (light red,blue).According to the myocardial perfusion scores (MPS) qualitatively assessed by MCE visual interpretation,the myocardia with impaired systolic function were categorized into three groups with different perfusion level.The changes of LPSS within one week and three months after surgery (△ LPSS) among the three groups were analyzed.The correlation between MPS and LPSS within one week and three months after PPCI was also analyzed respectively.Results The △ LPSS increased significantly among the three groups with the improvement of myocardial perfusion level [(-5.78±6.23)％ vs.(-4.37±6.60)％ vs.(-1.21 ±4.77)％,all P＜0.05].The MPS measured one week after PPCI was both positively correlated with the LPSS detected within one week after surgery and that after three months (r=0.47,0.58,P＜0.001).The consistence of myocardial perfusion scores given by two evaluators was good (Kappa=0.785,P＜0.05).Conclusion The level of myocardial perfusion after PPCI in patients with AMI is closely related to regional myocardial systolic function,and the improvement of myocardial perfusion can forecast the recovery of regional systolic function.

Myocardial perfusion before delayed percutaneous coronary intervention is valuable in predicting the systolic function recovery of patients with acute myocardial infarction / 中华医学超声杂志（电子版）

Objective To evaluated the value of myocardial perfusion before delayed percutaneous coronary intervention (PCI) for predicting the recovery of systolic function of patients with acute myocardial infarction (AMI).Methods A total of 64 patients with AMI receiving delayed PCI treatment in the First People's Hospital of Foshan from January 2014 to June 2015 were selected.One day prior to delayed PCI,all of the patients underwent two dimensional strain to measure the longitudinal peak systolic strain (LPSS) of each left ventricular segment and the global longitudinal strain (GLS) of the left ventricle.The myocardial perfusion score (MPS) and the perfusion score index (PSI) were measured by myocardial contrast echocardiography (MCE).Left ventricular myocardial perfusions were classified as good,reduced,or absent.The two dimensional strain measurements were again conducted at 6 months after the delayed PCI to assess LPSS and GLS.The change of GLS and LPSS between one day prior to delayed PCI and six months after delayed PCI was assessed by paired t-test.The differences of LPSS among good,reduced,or absent myocardial perfusion groups were analyzed by one-way ANOVA.LSD-t test was used to compare in pairs of groups that had different values.The correlations between PSI and GLS,MPS and LPSS were assessed by Spearman's rank-correlation test.Results The GLS of all patients were higher at six months after delayed PCI than at one day prior to delayed PCI [(-15.39±7.80)％ vs (-12.44±8.38)％,t=14.398,P ＜ 0.001].The LPSS of myocardial perfusion in good,reduced and absent groups at one day prior to delayed PCI were (-2.64±5.60)％,(-6.19±6.87)％ and (-12.07±5.86)％,respectively.The LPSS of myocardial perfusion in good,reduced and absent groups at six months after delayed PCI were (-2.97 ± 4.93)％,(-11.38± 7.26)％ and (-15.82 ± 5.97)％,respectively.The myocardial LPSS of left ventricular segment with good or reduced perfusion was significantly higher at six months after delayed PCI (t=13.013,10.821,both P ＜ 0.001),but the LPSS of left ventricular segment with absent perfusion was similar to that of pre-PCI.Whether at one day prior to delayed PCI or six months after delayed PCI,there were significant differences in LPSS parameters among the three groups (at one day prior to delayed PCI,myocardial perfusion absent vs reduced or good,t=4.201 and 11.771,both P ＜ 0.001;myocardial perfusion reduced vs good,t=12.561,P ＜ 0.001;at six months after delayed PCI,myocardial perfusion absent vs reduced or good,t=9.714 and 15.646,both P ＜ 0.001;myocardial perfusion reduced vs good,t=9.254,P ＜ 0.001).The LPSS both at one day prior to delayed PCI and six months after delayed PCI in myocardial perfusion good group ＞ those of myocardial perfusion reduced group ＞ those of myocardial perfusion absent group.PSI was positively correlated with GLS at both one day prior to delayed PCI and six months after delayed PCI (r=0.69,0.72,both P ＜ 0.001).MPS was positively correlated with LPSS at both one day prior to delayed PCI and six months after delayed PCI (r=0.49 and 0.45,both P ＜ 0.001).Conclusion Myocardial perfusion before delayed PCI,monitored by MCE,is correlated well with myocardial systolic function,and may be used to predict the recovery of myocardial systolic function after delayed PCI.

A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>

Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.</p><p><b>METHODS</b>The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.</p>

Study on the Pharmacodynamic Comparison of Active Part in Crude Atractylodes lancea and Atractylodes lancea Fried with Bran / 中国药房

OBJECTIVE:To compare the pharmacodynamics of active parts in crude Atractylodes lancea and A. lancea fired with bran. METHODS:170 rats were randomly divided into 17 groups,including blank control group,spleen and stomach damp obstruction model group,volatile oil of crude A. lancea and A. lancea fired with bran high-dose and low-dose(0.747,0.083 mg/ml by the concentration of crude medicinal materials,similarly hereinafter)groups,solvent control 2% polysorbate 80 group,dichlo-romethane extract of crude A. lancea and A. lancea fired with bran high-dose and low-dose groups,solvent control 1‰ polysorbate 80 group,n-butyl alcohol extract of crude A. lancea and A. lancea fired with bran high-dose and low-dose groups,solvent control stomach damp obstruction model distilled water control group. Except blank control group,other 16 groups were given Sennae foli-um decoction ig for 14 d to induce spleen and stomach damp obstruction model,and then received relevant medicine or solvent ig once a day for consecutive 7 d. Body weight of rats were determined before and after medication,and the serum levels of amylase, D-xylose,gastrin,vasoactive intestinal peptide and NO were determined after medication. RESULTS:Compared with spleen and stomach damp obstruction model group,the body weight and serum levels of gastrin,amylase and D-xylose increased significantly in rats of active part in A. lancea fired with bran groups(P<0.05),while vasoactive intestinal peptide and NO decreased signifi-cantly(P<0.05). Compared active part in crude A. lancea group,except the body weight,above indicators of active part in A. lan-cea fired with bran groups had greater change,with statistical significance (P<0.05). CONCLUSIONS:There are pharmacody-namic differences in the active parts between crude A. lancea and A. lancea fired with bran,the latter one is stronger.

Mechanism of Nuclear Factor-κB in Skeletal Muscle Atrophy during Prevention and Treatment of Exercise in Patients with Chronic Obstructive Pulmonary Disease (review) / 中国康复理论与实践

@#Chronic obstructive pulmonary (COPD) has significant extra pulmonary effects, which could induce atrophy of peripheral skeletal muscle and respiratory muscles, and significantly influence the respiratory function and quality of life. Muscle nuclear factor (NF)-κB activation plays a key role in the skeletal muscle atrophy. This article discussed the potential mechanisms on how NF-κB signaling pathway increasing protein breakdown and reducing muscle regeneration. On this basis, we explored the role of NF-κB in skeletal muscle at-rophy in patients with COPD during exercise.

Radiosensitization of DNA-dependent protein kinase catalytic subunit inhibitor NU7026 on HCT116 colorectal cancer stem cells / 中华放射医学与防护杂志

Objective To evaluate the radiosensitization and mechanism of DNA-dependent protein kinase catalytic subunit inhibitor NU7026 on HCT116 colorectal cancer stem cells.Methods The flow cytometry was used to determine the sub-population of cancer stem cells with the markers CD133/ CD44.The cells were divided into four groups:control group,20 μmol/L NU7926 group,2 Gy irradiation group,and 20 μmol/L NU7026 combined with 2 Gy irradiation group.Cell proliferation and survival were evaluated by colony-formation experiment.Flow cytometry was used to analyze the cell cycle distribution and apoptosis induction.γ-H2AX foci were detected with immune-fluorescence staining analysis by a laser confocal microscopy for investiating the DNA double-strand break repair.Results The flow cytometric data of CD133 +/CD44 + positive cells indicated that the sub-population of cancer stem cell (CSC) took the ratio of (88.14 ± 0.47)％ of the cultured HCT116 cells.The colony-formation efficiency of HCT116 cells was (84.75 ± 1.35) ％ in serum-free mediums in vitro culture.Compared to 2 Gy irradiation alone group,the NU7026 combined with 2 Gy irradiation group had a lower cell colony-forming ratio (t =7.21,P ＜0.01) and a lower survival ratio (t =7.22,P ＜ 0.01).The proportion of CSCs sub-population increased at 48 h post-2 Gy irradiation,suggesting that HCT116 CSCs was more resistant to ionizing radiation.Importantly,NU7026 largely decreased the proportion of CSCs sub-population in 2 Gy-irradiated cells.The difference of CSC proportion between 2 Gy irradiation alone group and 2 Gy combined with NU7026 treatment group was statistically significant (t =9.55,P ＜ 0.01).In addition,the group of NU7026 combined with 2 Gy irradiation had a higher ratio of G2/M arrest 24 h post-irradiation (t =7.67,P ＜ 0.01) and an increased induction of cell early apoptosis (t =8.24,P ＜ 0.05).48 h post irradiation as compared to 2 Gy irradiation alone group.NU7026 treatment significantly inhibited the cellular capacity of repairing DNA double-strand breaks induced by γ-ray irradiation.The γ-H2AX foci of the combined treatments group were much higher than that of 2 Gy irradiation alone group at 2,4,8,24 h postirradiation (t=19.58,11.95,7.01,9.45,P＜0.01).Conclusions DNA-dependent protein kinase catalytic subunit inhibitor NU7026 can significantly sensitize the cancer stem cells of colorectal carcinoma HCT116 cells to γ-ray irradiation.Multiple mechanisms are involved in the radiosensitization effect of NU7026,including DNA repair inhibition,elongation of G2/M arrest,and increase of radiation-induced apoptosis.

Efficacy Comparison of Xiaoshi Lidan Capsules and Ursodeoxycholic Acid Capsules in the Treatment of Chronic Cholesterol Gallstone Cholecystitis / 中国药房

OBJECTIVE:To compare clinical efficacy of Xiaoshi lidan capsules and Ursodeoxycholic acid capsules in the treat-ment of chronic cholesterol gallstone cholecystitis. METHODS:120 patients with chronic cholesterol gallstone cholecystitis in our hospital were selected and divided into observation group and control group according to random number table,with 60 cases in each group. Observation group was given Xiaoshi lidan capsules 1.2 g,po,tid(after the meal);control group was given Ursodeoxycholic acid capsules 250 mg,po,qd(after dinner). Both group received treatment for 6 months. Effective rate of litholysis were observed in 2 groups as well as abdominal pain score [PRI,VAS score,present pain intensity(PPI)],the thickness of gallbladder wall before and after treatment. Clinical efficacy and the occurrence of ADR were compared between 2 groups during treatment. RESULTS:3 pa-tients withdrew from the observation group and 1 patient withdrew from the control group. Before treatment,there was no statistical significance in PRI,VAS score,PPI and the thickness of gallbladder wall between 2 groups(P>0.05). After treatment,above index-es of 2 groups were decreased significantly,while PRI,VAS score and PPI in observation group was significantly lower than in con-trol group,with statistical significance (P0.05). There was no statistical signifi-cance in the incidence of ADR between 2 groups(P>0.05). CONCLUSIONS:Xiaoshi lidan capsules are similar to Ursodeoxycholic acid capsules in clinical efficacy for chronic cholesterol gallstone cholecystitis with good safety,and can be used as optional drug ex-cept for chronic cholesterol gallstone cholecystitis.