Construction of evaluation index system of entrustable professional activities in psychiatric residents / 中国心理卫生杂志

Objective:To construct an evaluation the index system of entrustable professional activities for resident training doctors in psychiatric department,and to provide reference for formulating training strategies and assessment standards.Entrustable professional activities refers to the ability of trainees to perform and complete spe-cific clinical tasks independently after they have been trusted.Methods:Through documental analysis and semi-structured interviews,the item database of entrustable professional activities for psychiatric resident training physi-cians was established.Delphi consultation was conducted among 63 experts in the field of psychiatry from 7 national resident training bases and 3 medical colleges in China.Indicators were comprehensively screened and sorted out,and indicators at all levels and their weights were determined by the analytic hierarchy process.Results:A hierarchi-cal evaluation index system of entrustable professional activities for psychiatric resident training doctors was con-structed,including 4 first-level indicators,17 second-level indicators and 68 third-level indicators.The weights of the first-level,second-level and third-level indicators were determined.Conclusion:The evaluation index system of en-trustable professional activities is comprehensive and systematic,which is suitable for clinical work and convenient for practical application.It could provide quantitative standards for the assessment of psychiatric residents and pro-mote the improvement of training quality.

Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome.@*METHODS@#A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022.@*RESULTS@#For the 33-year-old pregnant woman, ultrasonography at 22+6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47,XX,+12[1]/46,XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes.@*CONCLUSION@#Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.

Genetic analysis of a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11) / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11).@*METHODS@#A pregnant woman who had visited the Birth Health Clinic of Lianyungang Maternal and Child Health Care Hospital on May 22, 2021 was selected as the study subject. Clinical data of the woman was collected. Peripheral blood samples of the woman and her husband and umbilical cord blood of the fetus were collected and subjected to conventional G-banded chromosomal karyotyping analysis. Fetal DNA was also extracted from amniotic fluid sample and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#For the pregnant women, ultrasonography at 25th gestational week had revealed permanent left superior vena cava and mild mitral and tricuspid regurgitation. G-banded karyotyping analysis showed that the pter-q11 segment of the fetal Y chromosome was connected to the Xq26 of the X chromosome, suggesting a Xq-Yq reciprocal translocation. No obvious chromosomal abnormality was found in the pregnant woman and her husband. The CMA results showed that there was approximately 21 Mb loss of heterozygosity at the end of the long arm of the fetal X chromosome [arr [hg19] Xq26.3q28(133912218_154941869)×1], and 42 Mb duplication at the end of the long arm of the Y chromosome [arr [hg19] Yq11.221qter(17405918_59032809)×1]. Combined with the search results of DGV, OMIM, DECIPHER, ClinGen and PubMed databases, and based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the deletion of arr[hg19] Xq26.3q28(133912218_154941869)×1 region was rated as pathogenic, and the duplication of arr[hg19] Yq11.221qter(17405918_59032809)×1 region was rated as variant of uncertain significance.@*CONCLUSION@#The Xq-Yq reciprocal translocation probably underlay the ultrasonographic anomalies in this fetus, and may lead to premature ovarian insufficiency and developmental delay after birth. Combined G-banded karyotyping analysis and CMA can determine the type and origin of fetal chromosomal structural abnormalities as well as distinguish balanced and unbalanced translocations, which has important reference value for the ongoing pregnancy.

Adverse childhood experiences and negative emotions in adolescents: the mediating effect of self-hating / 中华行为医学与脑科学杂志

Objective:To explore the mediating role of self-hating in the influence of adverse childhood experiences on adolescents' negative emotions.Methods:A questionnaire method was used to collect demographic variables, and 7 012 valid questionnaires were obtained from adolescents by applying the revised adverse childhood experiences questionnaire, patient health questionnaire-4, and self-hate scale from May 1 to May 30, 2022, in five high schools(90 classes) and five junior high schools(60 classes) in Rizhao city, Shandong province, China. Data entry and analysis were performed by SPSS 22.0 software.Mann-Whitney U test was used for the comparison between demographic variables and other variables, and the correlations between variables were expressed by Spearman correlation coefficient. AMOS 23.0 software was applied for testing the mediating and moderating effects of variables. Results:(1)There were significant positive correlations between adverse childhood experiences(0(2)) and negative emotion(3(10))( r=0.459, P<0.01), self-hating(2(4))( r=0.427, P<0.01). There were significant positive correlations between self-hating and negative emotion( r=0.566, P<0.01). (2) Self-hating played a mediating role between adverse childhood experience and adolescent negative emotion, and the mediating effect was 0.299, accounted for 61.27% of the total effect.(3) The mediating pathway of self-hated was moderated by gender, with girls' adverse childhood experiences( Bsimple=2.428, t=39.585, P<0.05) predicting self-hating more than boys( Bsimple=1.641, t=25.355, P<0.05). Conclusion:Adverse childhood experiences can predict adolescents' negative emotions, and self-disgusting can also affect adolescents' negative emotions.Gender plays a moderating role in the mediating pathway.

Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS).@*METHODS@#A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members.@*RESULTS@#The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

The relationship between insomnia and cognitive impairment in adolescents: chain mediating effects of fatigue, depression and anxiety / 中华行为医学与脑科学杂志

Objective:To explore the situation of insomnia, fatigue, depression, anxiety and cognitive impairment in adolescents with different characteristics, and the chain mediating effect of fatigue, depression and anxiety on insomnia and cognitive impairment.Methods:The general demographic data of 6 014 adolescents were collected.Insomnia severity index (ISI), the multidimensional fatigue inventory (MFI-20), patient health questionnaire-9 (PHQ-9), generalized anxiety disorder-7 (GAD-7) and perceived deficits questionnaire-depression(PDQ-D) were used to compare the insomnia, fatigue, depression, anxiety and cognitive impairment of adolescents with different characteristics.Spearman correlation analysis was conducted by SPSS 20.0 software.The significance of mediating effect was tested by deviation corrected nonparametric percentile Bootstrap method using SPSS macro program PROCESS.Results:The detection rates of insomnia, fatigue, depression, anxiety and cognitive impairment were different in adolescents with different genders, grades and academic achievements.Cognitive impairment was significantly positively correlated with insomnia ( r=0.654, P<0.01), fatigue ( r=0.476, P<0.01), depression ( r=0.677, P<0.01), anxiety ( r=0.655, P<0.01), which was suitable for mediating effect test.Fatigue, depression and anxiety in adolescents had a chain mediating effect between insomnia and cognitive impairment.Insomnia indirectly affects cognition by affecting fatigue and depressive symptoms.The intermediary effect value was 1.253, the effect amount was 55.60%, and the total effect was 2.254.Insomnia indirectly affects cognition by affecting fatigue and anxiety symptoms.The intermediary effect value was 1.161, the effect amount was 51.50%, and the total effect was 2.254. Conclusion:Insomnia can not only directly affect their cognitive impairment, but also indirectly affect their cognitive impairment through the chain mediation of fatigue, depression and anxiety of adolescents.

LncRNA-SNX17 Promotes HTR-8/SVneo Proliferation and Invasion Through miR-517a/IGF-1 in the Placenta of Diabetic Macrosomia.

Gestational diabetes mellitus (GDM) has become a worldwide problem in recent years. Macrosomia, a primary consequence of GDM, has short-term and life-long consequences in the offspring of mothers with GDM. Our previous study showed that miR-517a was dysregulated in placenta and plasma of fetal growth restriction through inhibiting invasion of trophoblast and might be closely related with the regulation of birth weight by the placenta. To further investigate the mechanism of miR-517a, we conducted genome-wide microarray profile of lncRNAs. lncRNA-SNX17 was found to be significantly upregulated in the placenta of diabetic macrosomia by qRT-PCR, and the expression of miR-517a and IGF-1 were measured by qRT-PCR and Western blot. Interestingly, significant inverse correlations of the miR-517a with both lncRNA-SNX17 and IGF-1 expression were revealed in the placenta of diabetic macrosomia. Bioinformatic prediction also revealed that both lncRNA-SNX17 and IGF-1 possessed binding sites for miR-517a, which were then confirmed by luciferase report assay. LncRNA-SNX17 overexpression reduced the expression of miR-517a and increased the IGF-1 expression in HTR-8/SVneo human trophoblast cell line and thus enhanced the proliferation of HTR-8/SVneo. The enhancement of HTR-8/SVneo proliferation by lncRNA-SXN17 could be nullified by co-transfection of miR-517a mimics. The data suggested that lncRNA-SNX17 might promote the trophoblast proliferation through miR-517a/IGF-1 pathway and might play a role in the placentation of diabetic macrosomia.

Application of chromosomal microarray analysis in prenatal diagnosis of pregnant women with advanced age / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the detection of fetal anomalies among pregnant women with advanced age.@*METHODS@#CMA results of 562 cases, in addition with the outcome of pregnancy and neonatal follow-up were reviewed.@*RESULTS@#Among the 562 amniotic fluid samples, 73 cases (12.99%) of fetal chromosomal abnormalities were detected, which included 21 cases (3.73%) of chromosomal aneuploidies and 52 cases (9.25%) of copy number variations (CNVs). The latters included 27 cases of pathological CNVs (4.80%), 4 cases of possible pathogenic CNVs (0.71%) and 42 cases of variants with unknown clinical significance (7.47%). Compared with those under 35, the detection rate of fetal chromosomal aneuploidies for women with advanced age was higher under the indications of voluntary test, abnormal ultrasonic structures, abnormal ultrasonic soft index and risks indicated by non-invasive prenatal testing (NIPT). No significant difference was found in the detection rate of CNVs between those ≥35 and 0.05). 552 cases (98.22%) of pregnant women have completed the followed up. Among 31 women with pathological and possible pathogenic fetal CNVs detected by CMA, 25 had terminated the pregnancy, 6 (19.35%) have delivered without obvious abnormality. 41 pregnant women with fetal CNVs of unknown clinical significance have completed the follow up, among whom 3 had terminated the pregnancy, 1 newborn was found with malformation after birth, which yielded an abnormal pregnancy rate of 9.76%. 480 pregnant women with negative CMA results have completed the follow up, among whom 5 (1.04%) had abnormal pregnancy or delivered a child with birth defect.@*CONCLUSION@#There is a certain difference between the outcome of pregnancy predicted by CMA testing and the actual outcome. The pregnancies with fetal CNVs with unknown clinical significance detected by CMA have a high adverse rate, which should attract clinical attention. CMA testing should be recommended for pregnant women with advanced age regardless of whether they have other symptoms. CMA combined with other detection methods is the trend for prenatal diagnosis.

Genetic study of a child carrying a maternally derived unbalanced 46,Y,der(X)t(X;Y)(p22;q11) chromosomal translocation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring short stature, saddle nose, cryptorchidism and mental retardation.@*METHODS@#The child and his parents were subjected to G-banded karyotyping and chromosomal microarray analysis (CMA).@*RESULTS@#The child was found to have a 46,Y,der(X)t(X;Y)(p22;q11)mat karyotype. CMA has revealed a 8.3 Mb deletion at Xp22.33p22.31 and a 43.3 Mb duplication at Yq11.221qter. His mother had a karyotype of 46,X,der(X)t(X;Y)(p22;q11). His father had a normal karyotype.@*CONCLUSION@#The child has carried an unbalanced translocation der(X)t(X;Y) (p22;q11) derived from his mother. His clinical phenotype has correlated with the size and position of X chromosome deletion. Compared with the females, abnormal phenotypes such as mental retardation and growth retardation of male carriers are more severe.

Analysis of clinical characteristics and related gene mutation characteristics in a case of maple syrup urine disease / 中华实用儿科临床杂志

The clinical characteristics and gene mutation characteristics of a child with typical maple syrup urine disease were analyzed retrospectively.The child is a boy, who showed unexplained milk refusal, poor reaction, foaming at the mouth, and encephalopathy symptoms 7 days after birth.The total leucine concentration was abnormally increased by blood tandem mass spectrometry, and the results of urine gas chromatography/mass spectrometry suggested that the concentrations of 2-hydroxy isovaleric acid, 2-keto isovaleric acid, 2-keto-3-methylpentanoic acid and 2-keto-isohexanoic acid were significantly increased.The gene detection results showed that c. 1028delC (p.S343Lfs*9) homozygous mutation was found in the BCKDHB gene.Understanding the clinical symptoms and gene mutation characteristics of this disease can help with the early detection and early diagnosis of this disease, so as to improve its prognosis to the greatest extent.

LncRNA LINC00313 Knockdown InhibitsTumorigenesis and Metastasis in HumanOsteosarcoma by Upregulating FOSL2through Sponging miR-342-3p

Purpose@#Osteosarcoma (OS) is the most common primary bone tumor, with high morbidity in infants and adolescents. Long noncodingRNA LINC00313 has been found to modulate papillary thyroid cancer tumorigenesis and to be dysregulate in lung cancer.However, the role of LINC00313 in OS has not yet been addressed. @*Materials and Methods@#We evaluated mRNA and protein expression using real-time quantitative PCR and Western blotting. Cellproliferation was evaluated using MTT; apoptosis and autophagy were assessed with flow cytometry, Western blotting, and/orGFP-LC3 assay. Transwell assay was conducted to measure cell migration and invasion. Potential target sites for LINC00313 andmiR-342-3p were predicted with starBase v.2.0 and TargetScan Human, and verified using luciferase reporter assay, RNA immunoprecipitation,and RNA pull-down assay. In vivo, xenogeneic tumors were induced with U2OS and MG-63 cells, separately. @*Results@#LINC00313 was upregulated and miR-342-3p was downregulated in OS tissues and cells. High expression of LINC00313was associated with shorter overall survival. FOSL2 downregulation and miR-342-3p overexpression suppressed cell proliferationand migratory and invasive abilities while promoting apoptosis and autophagy, all of which were consistent with the effects ofLINC00313 knockdown. miR-342-3p, sponged by LINC00313, inversely modulated FOSL2 by targeting MG-63 cells, and FOSL2expression was positively controlled by LINC00313. LINC00313 knockdown suppressed tumor growth in vivo. @*Conclusion@#LINC00313 is upregulated in OS, and LINC00313 knockdown plays a vital anti-tumor role in OS cell progressionthrough a miR-342-3p/FOSL2 axis. Our study suggests that LINC00313 may be a novel, promising biomarker for diagnosis andprognosis of OS.

Relatioship between childhood witnessing domestic violence and injury and violence of college students / 中国学校卫生

Objective@#To investigate the prevalence of witnessing domestic violence,and to explore the relationship between witness domestic violence in childhood and college students’ injury and violence behaviors.@*Methods@#In October 2018, self-made questionnaire on “Health and Risky Behaviors among University Students in Anhui Province” was conducted among 4 034 college students from 4 universities in Hefei. Multivariate Logistic regression models (control of confounding factors) were used to explore the impact of childhood witnessing domestic violence on college students’ injury and violence.@*Results@#Among 4 034 college students,the prevalence of witnessing domestic emotional violence,mild physical violence and severe physical violence in childhood was 27.6%,22.4%,10.7%,respectively. Univariate analysis showed that students with experiences of witness domestic emotional violence,mild physical violence and severe physical violence had higher rates of self-injury,physical,emotional,and sexual violence compared to those without domestic violence witness(P<0.05). Multivariate Logistic regression analysis showed that witnessing domestic severe physical violence,emotional violence in childhood associated positively with self-harm (OR=1.53,95%CI=1.05-2.23; OR=2.15,95%CI=1.51-3.04) and emotional violence (OR=1.65,95%CI=1.16-2.35; OR=2.57,95%CI=1.87-3.53). Witnessing domestic severe physical violence showed positive association with physical violence (OR=4.99,95%CI=2.58-9.62) and sexual violence (OR=8.68,95%CI=3.30-22.81) among college students (P<0.05).@*Conclusion@#The experiences of witness domestic violence can increases the risk of college student’s injury and violence behaviors,especially witness domestic severe physical violence.

Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with autism spectrum disorder (ASD) and congenital heart disease.@*METHODS@#G-banded chromosomal karyotyping was carried out for the patient and his parents. The child was also subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). The result was validated by chromosomal microarray analysis (CMA).@*RESULTS@#The karyotype of the patient and his parents were normal. No significant genetic variation was found by WES. However, CNV-seq has discovered a 47, XY, +21 [10%]/46,XY [90%] mosaicism in the patient. The result was confirmed by CMA.@*CONCLUSION@#In addition to Down syndrome, low proportion mosaic trisomy 21 is also associated with ASD. WES and CNV-seq can enable accurate diagnosis for patient with unexplained ASD.

The relationship between childhood trauma and depression / 中华行为医学与脑科学杂志

The occurrence of depression is related to many factors,and the current research mainly focus on biological aspects such as biochemistry,neuroendocrine and immune,and genetic factors. However, as an important psychological factor,the relationship between childhood trauma and depression has not been paid enough attention. Therefore,it is important to discuss and summarize the relationship between them. Many literatures have shown that childhood trauma can significantly increase the prevalence of depression, which has a great impact on the clinical characteristics and treatment of patients with depression. The mecha-nism may be related to the changes in cognitive and psychological patterns caused by trauma. In addition, childhood trauma can affect the epigenetics and brain structure of patients with depression. Based on the a-bove findings,the public should pay attention to the mental health problems in childhood,minimize or avoid childhood trauma,so as to reduce the occurrence of depression.

Multivariate analysis of long-term outcomes of storage symptom improvement in elderly patients with benign prostatic hyperplasia after GreenLight laser vaporization / 中华老年医学杂志

Objective To investigate the relationship between preoperative urodynamic parameters and the improvement of overactive bladder (OAB)symptoms after GreenLight laser vaporization,and to explore prognostic factors for improvement of OAB symptoms in the elderly.Methods A retrospective study was conducted in 100 benign prostatic hyperplasia (BPH)patients undergoing GreenLight laser vaporization at the Department of Urology of Beijing Hospital from July 2015 to March 2017.All patients completed a preoperative urodynamic examination and received GreenLight laser vaporization.Clinical data including age,prostate-specific antigen (PSA),prostate volume,international prognostic scoring system(IPSS),overactive bladder symptom score (OABSS),quality of life(QOL)and urodynamic parameters were collected.The related factors for improvement of OAB symptoms after GreenLight laser vaporization were analyzed by a binary Logistic regression analysis.Results All patients underwent surgery successfully and completed a 12-month follow-up.Both urinary storage and voiding symptoms improved at 3 and 12 months after GreenLight laser vaporization(P＜0.05).The scores of IPSS,IPSS storage (IPSS-S),IPSS voiding (IPSS-V),OABSS and QOL and nighttime voiding frequency decreased and urinary storage and voiding symptoms improved at 3 and 12 months after GreenLight laser vaporization,compared with pre-surgery data(P＜0.05).The success rates of storage symptom improvement at 3 and 12 months after GreenLight laser vaporization were 62.0 ％ (62/100) and 68.0 ％ (68/100) evaluated by IPSS-S and 68.0 ％ (68/100) and 75.0％ (75/100)by OABSS,respectively.Multiple Logistic regression analysis showed that age,detrusor contractility,residual urine volume and nighttime voiding frequency were independent influencing factors for prognosis(OR =35.714,0.352,0.110 and 0.040,P =0.000,0.027,0.018 and 0.002).Conclusions GreenLight laser vaporization is an effective method in treating BPH with OAB.Age is an independent unfavorable factor and the residual urine volume,nighttime voiding frequency and detrusor contraction are independent influencing factors for prognosis.Enough attention should be paid to these related parameters before surgery.

Mutational analysis of 117 patients with non-syndromic hearing loss / 中华医学遗传学杂志

OBJECTIVE@#To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province.@*METHODS@#A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing.@*RESULTS@#Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation.@*CONCLUSION@#The frequency of mutation among patients with NSHL from north Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.

Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic features of an adult female with premature ovarian failure (POF) and mosaic ring chromosome 13.@*METHODS@#The patient was subjected to G-banding karyotyping and chromosomal microarray analysis (CMA).@*RESULTS@#The patient was diagnosed as POF and had a karyotype of 46,XX,r(13)(p13q34)[86]/45,XX,-13[9]/46,XX,r(13;13)[5]. CMA analysis has failed to detect any deletion in the long arm of chromosome 13. Literature review suggested that the ring chromosome 13 may have clinical symptoms similar to those of sex chromosome abnormalities.@*CONCLUSION@#A case of mosaic ring chromosome 13 and POF has been reported. Mosaic ring chromosome 13 may lead to symptoms of POF similar to sex chromosomal abnormalities.

Regulation of cortactin with Rac1 activation in migration and invasion of U251 glioma cells / 中华神经医学杂志

Objective To investigate the role of cortactin in migration and invasion of U251 glioma cells and role of Rac1 activation in this process.Methods Human glioma U251 cells were cultured in vitro.The expressions and distributions of Rac1 and cortactin in U251 glioma cells were detected by immunofluorescence.U251 glioma cells assigned into 4 treatment groups:siRNA-cortactin group (transfected by siRNA specific cortactin),siRNA-NC group (transfected by negative control RNA sequence),siRNA-N group (transfected by empty vector) and siRNA-cortactin+Rac1 group (transfected by siRNA specific cortactin and Rac1 inhibitor).Forty-eighty h after grouping and each treatment,the protein expressions of cortactin and Rac1 in the 4 groups were detected by Western blotting;the migration and invasion of glioma cells were evaluated by wound-healing and Transwell-chamber invasion assays;the lamellipodia of glioma cells was observed by immunofluorescence.Results Cortactin and Rac1 were co-localized in the front ofglioma cells,where actin was polymerized and lamellipodia was formed.As compared with siRNA-NC group and siRNA-N group,siRNA-cortactin group and siRNA-cortactin+Rac1 group had significantly lower cortactin and Rac1 expressions (P＜0.05);siRNA-cortactin+Rac1 group had significantly lower cortactin and Rac1 expressions as compared with siRNA-cortactin group (P＜0.05).As compared with siRNA-NC group and siRNA-N group,siRNA-cortactin group and siRNA-cortactin+Rac1 group had significantly smaller healing areas and number of perforator cells (P＜0.05);siRNA-cortactin+Rac1 group had significantly smaller healing areas and number of perforator cells as compared with siRNA-cortactin group (P＜0.05).As compared with siRNA-NC group and siRNA-N group,siRNA-cortactin group and siRNA-cortactin+Rac1 group had decreased lamellipodia of glioma cells;siRNA-cortactin+Rac1 group had decreased lamellipodia of glioma cells as compared with siRNA-cortactin group.Conclusion Cortactin can promote the migration and invasion of glioma cells by regulating lamellipodia formation;combined inhibition of Rac 1 and cortactin may be an effective mean for treatment ofglioma.

Hemoglobin level is a risk factor of non-alcoholic fatty liver disease / 中华全科医师杂志

Total 732 subjects aged 30-60 years undergoing health check-up at Beijing Hospital Medical Examination Center in 2009,who had no history of non-alcoholic fatty liver disease (NAFLD) were recruited in the study.According to the quartile of hemoglobin (HGB) level,the subjects were divided into 4 groups:Q1:HGB ≤ 131 g/L (n =192),Q2:HGB ＞ 131 g/L and ≤ 140 g/L (n =178),Q3:HGB ＞ 140 g/L and ≤152 g/L (n =184),Q4:HGB ＞ 152 g/L (n =178).All participants were followed up for 4 years,the prevalence rates of NAFLD in groups Q1,Q2,Q3 and Q4 were 8.3％ (16/192),17.4％ (31/178),23.4％ (43/184) and 25.3％ (45/178),respectively (P ＜0.05).Logistic regression showed that the rates of NAFLD in groups Q2,Q3 and Q4 were 2.32 (1.22-4.41),3.36 (1.81-6.21) and 3.72(2.02-6.87) times higher as group Q1 (P ＜ 0.05).Multiple logistic regression analysis showed that the hemoglobin level,TG and BMI were the independent risk factors of NAFLD.

A facile approach for TiO2-based superhydrophobic-superhydrophilic patterns by UV or solar irradiation without a photomask.

A novel and facile approach to produce TiO2-based superhydrophobic-superhydrophilic patterns by UV or solar irradiation without a photomask is presented. The fabricated superhydrophobic-superhydrophilic patterns with excellent mechanical properties have long lifetimes in outdoor applications or other UV environments because of a self-supply of low surface tension material.