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PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1:A case report

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World Journal of Clinical Cases 2022年第16期10卷 5441-5445页

作者： Fei Hou Shan Shan Hua Jin department of prenatal diagnosis Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina

BACKGROUND Multiple congenital anomalies-hypotonia-seizures syndrome 1(MCAHS1)associated with mutations in PIGN *** SUMMARY The authors report 1 case of a 16 years old girl who was presented with epilepsy,developmental delay and cerebellar *** harbors a compound heterozygous variant in the PIGN gene,include a nonsense splice site mutation(c.2557A>C)which was inherited from her mother,and a novel site mutation(c.980del)which was inherited from her *** This case report expands the mutation spectrum found in PIGN gene,and strengthens the association between PIGN mutation and *** in PIGN gene may be an underestimated cause of *** authors recommend that,for patients with epilepsy or prenatal diagnosis of highly suspicious fetus,gene sequencing should be the preferred detection method.

关键词： PIGN Multiple congenital anomalies-hypotonia-seizures Syndrome 1 MCAHS1 Whole-exome sequencing

Associations of sex hormone levels with body mass index(BMI)in men:a cross-sectional study using quantile regression analysis

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Asian Journal of Andrology 2023年第1期25卷 98-102页

作者： Xin Lv Yu-Ting Jiang Xin-Yue Zhang Lei-Lei Li Hong-Guo Zhang Rui-Zhi Liu Center of Reproductive Medicine and Center of prenatal diagnosis The First Hospital of Jilin UniversityChangchun 130021China

Body mass index(BMI)has been increasing globally in recent *** studies reported that BMI was associated with sex hormone levels,but the results were generated via linear regression or logistic regression,which would lose part of *** regression analysis can maximize the use of variable *** study compared the associations among different regression *** participants were recruited from the Center of Reproductive Medicine,The First Hospital of Jilin University(Changchun,China)between June 2018 and June *** used linear,logistic,and quantile regression models to calculate the associations between sex hormone levels and *** total,448 men were included in this *** average BMI was 25.7(standard deviation[s.d.]:3.7)kg m^(-2);29.7%(n=133)of the participants were normal weight,45.3%(n=203)of the participants were overweight,and 23.4%(n=105)of the participants were *** levels of testosterone and estradiol significantly differed among BMI groups(all P<0.05).In linear regression and logistic regression,BMI was associated with testosterone and estradiol levels(both P<0.05).In quantile regression,BMI was negatively associated with testosterone levels in all quantiles after adjustment for age(all P<0.05).BMI was positively associated with estradiol levels in most quantiles(≤80^(th))after adjustment for age(all P<0.05).Our study suggested that BMI was one of the influencing factors of testosterone and *** note,the quantile regression showed that BMI was associated with estradiol only up to the 80^(th) percentile of estradiol.

关键词： body mass index estradiol obesity overweight testosterone

Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

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World Journal of Clinical Cases 2024年第8期12卷 1544-1548页

作者： Fei Hou Yan Li Hua Jin department of prenatal diagnosis Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very *** SUMMARY Two pregnant women with abnormal prenatal screening results were *** was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 *** other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of *** number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 *** parental counseling,one woman continued the pregnancy,and the other woman terminated the *** In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ***,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

关键词： Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis prenatal diagnosis Case report

New mechanism of partial duplication and deletion of chromosome 8:A case report

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World Journal of Clinical Cases 2021年第24期9卷 7139-7145页

作者： Yan Jiang Shuang Tang Fang He Jue-Xin Yuan Zhu Zhang Office of prenatal diagnosis Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina department of Obstetrics Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina Office of prenatal diagnosis West China Second University HospitalSichuan UniversityChengdu 610000Sichuan ProvinceChina

BACKGROUND During meiosis,the recombination of homologous chromosomes produces some new heritable mutations,which are the basis of biological evolution and ***,when there is pericentric inversion of chromosomes,unbalanced gametes will be formed in the process of germ cell *** SUMMARY A 23-year-old pregnant woman at 25 wk of gestation wanted to terminate her pregnancy due to fetal chromosomal *** had no exposure to toxic or hazardous substances before and during pregnancy,no history of medication usage during pregnancy,and she underwent cystectomy of ovarian cysts in *** the second day of the 16th week of gestation,non-invasive prenatal testing showed chromosome 8 copy number *** genetic counseling,her pregnancy was *** Recombinant offspring chromosome is rarely seen when the inversion segment is shorter than one-third of the chromosome *** terms of the mechanism of chromosome 8 duplication/deletion occurrence,attention should be paid to the production of unbalanced gametes by the pairing of homologous chromosome during meiosis,and the possibility of mitotic recombination exchange as well.

关键词： Chromosome 8 Spontaneous mutation Mitosis Non-invasive prenatal testing Case report

2+0 CYP21A2 deletion carrier—a limitation of the genetic testing and counseling:A case report

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World Journal of Clinical Cases 2021年第23期9卷 6789-6797页

作者： Na Xi Xiao Song Xue-Yan Wang Sheng-Fang Qin Guan-Nan He Ling-Ling Sun Xi-Min Chen department of Medical Genetics and prenatal diagnosis Sichuan Provincial Hospital for Women and ChildrenChengdu 610045Sichuan ProvinceChina department of Ultrasound Sichuan Provincial Hospital for Women and ChildrenChengdu 610045Sichuan ProvinceChina

BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical *** families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of *** SUMMARY We report a case of CAH with a high suspicion before *** risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing *** report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the *** It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.

关键词： CYP21A2 gene mutations Congenital adrenal hyperplasia Pregnancy Genetic counseling Genetic testing Pathogenic point mutations Alleles

Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy

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World Journal of Clinical Cases 2021年第18期9卷 4573-4584页

作者： Hong-Guo Zhang Yu-Ting Jiang Si-Da Dai Ling Li Xiao-Nan Hu Rui-Zhi Liu Center for Reproductive Medicine and Center for prenatal diagnosis First HospitalJilin UniversityChangchun 130021Jilin ProvinceChina College of Communication Engineering Jilin UniversityChangchun 130012Jilin ProvinceChina

BACKGROUND Down syndrome(DS)is one of the most common chromosomal aneuploidy *** screening and diagnostic tests can aid the early diagnosis,appropriate management of these fetuses,and give parents an informed choice about whether or not to terminate a *** recent years,investigations have been conducted to achieve a high detection rate(DR)and reduce the false positive rate(FPR).Hospitals have accumulated large numbers of screened ***,artificial intelligence methods are rarely used in the risk assessment of prenatal screening for *** To use a support vector machine algorithm,classification and regression tree algorithm,and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS *** The dataset was from the Center for prenatal diagnosis at the First Hospital of Jilin *** designed and developed intelligent algorithms based on the synthetic minority over-sampling technique(SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening *** machine learning model was then ***,the feasibility of artificial intelligence algorithms in DS screening evaluation is *** The database contained 31 DS diagnosed cases,accounting for 0.03%of all *** dataset showed a large difference between the numbers of DS affected and non-affected cases.A combination of over-sampling and undersampling techniques can greatly increase the performance of the algorithm at processing non-balanced *** the number of iterations increases,the combination of the classification and regression tree algorithm and the SMOTETomek over-sampling technique can obtain a high DR while keeping the FPR to a *** The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening *** the T21 risk cutoff value was set to 270,machine learning m

关键词： Down syndrome prenatal screening Algorithms Classification and regression tree Support vector machine Risk cutoff value

A high-throughput Gaussia luciferase reporter assay for screening potential gasdermin E activators against pancreatic cancer

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Acta Pharmaceutica Sinica B 2023年第10期13卷 4253-4272页

作者： Yang Liu Xiaowei Zhang Ping Zhang Tingting He Weitao Zhang Dingyuan Ma Ping Li Jun Chen State Key Laboratory of Natural Medicines China Pharmaceutical UniversityNanjing 210009China department of Pharmacognosy School of Traditional Chinese PharmacyChina Pharmaceutical UniversityNanjing 211198China department of prenatal diagnosis Nanjing Maternity and Child Health Care HospitalWomen’s Hospital of Nanjing Medical UniversityNanjing 210004China

It is discovered that activated caspase-3 tends to induce apoptosis in gasdermin E(GSDME)-deficient cells,but pyroptosis in GSDME-sufficient *** high GSDME expression and apoptosis resistance of pancreatic ductal adenocarcinoma(PDAC)cells shed light on another attractive strategy for PDAC treatment by promoting *** we report a hGLuc-hGSDME-PCA system for high-throughput screening of potential GSDME activators against *** screening system neatly quantifies the oligomerization of GSDME-N to characterize whether pyroptosis occurs under the stimulation of chemotherapy *** on this system,ponatinib and perifosine are screened out from the FDA-approved anti-cancer drug library containing 106 ***,they exhibit the most potent luminescent activity and cause drastic pyroptosis in PDAC ***,we demonstrate that perifosine suppresses pancreatic cancer by promoting pyroptosis via caspase-3/GSDME pathway both in vitro and in ***,this study reveals the great significance of hGLuc-hGSDME-PCA in identifying compounds triggering GSDME-dependent pyroptosis and developing promising therapeutic agents for PDAC.

关键词： Pyroptosis Caspase-3 Gasdermin E Pancreatic ductal adenocarcinoma hGLuc-hGSDME-PCA High-throughput screening Ponatinib Perifosine

Miltirone induces cell death in hepatocellular carcinoma cell through GSDME-dependent pyroptosis

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Acta Pharmaceutica Sinica B 2020年第8期10卷 1397-1413页

作者： Xiaowei Zhang Ping Zhang Lin An Ningyuan Sun Liying Peng Weiwei Tang Dingyuan Ma Jun Chen State Key Laboratory of Natural Medicines China Pharmaceutical UniversityNanjing 210009China department of Pharmacognosy School of Traditional Chinese PharmacyChina Pharmaceutical UniversityNanjing 210009China department of prenatal diagnosis Nanjing Maternity and Child Health Care HospitalWomen’s Hospital of Nanjing Medical UniversityNanjing 210004China

Pyroptosis is a form of programmed cell death,and recently described as a new molecular mechanism of chemotherapy drugs in the treatment of ***,a derivative of phenanthrenequinone isolated from the root of Salvia miltiorrhiza Bunge,has been shown to possess anti-cancer ***,we found that miltirone inhibited the cell viability of either HepG2 or Hepa1-6 cells,and induced the proteolytic cleavage of gasdermin E(GSDME)in each hepatocellular carcinoma(HCC)cell line,with concomitant cleavage of caspase *** out GSDME switched miltirone-induced cell death from pyroptosis to ***,the induction effects of miltirone on GSDMEdependent pyroptosis were attenuated by si RNA-mediated caspase three silencing and the specific caspase three inhibitor Z-DEVD-FMK,*** effectively elicited intracellular accumulation of reactive oxygen species(ROS),and suppressed phosphorylation of mitogen-activated and extracellular signal-regulated kinase(MEK)and extracellular regulated protein kinases 1/2(ERK1/2)for pyroptosis ***,miltirone significantly inhibited tumor growth and induced pyroptosis in the Hepa1-6 mouse HCC syngeneic *** results provide a new insight that miltirone is a potential therapeutic agent for the treatment of HCC via GSDME-dependent pyroptosis.

关键词： death drugs chemotherapy GSD treatment

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

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Asian Journal of Andrology 2017年第2期19卷 260-261页

作者： Lin Li Wen-Miao Liu Mei-Xin Liu Shu-QiZheng Ji-Xia Zhang Feng-Yuan Che Shi-Guo Liu department of Genetics Counseling Genetics Institute of Linyi People's Hospital Linyi 276003 Shandong China department of Clinical Laboratory diagnosis Medical College of Qingdao University Qingdao 266003 Shandong China department of Ultrasonography The Affiliated Hospital of Qingdao University Qingdao 266003 Shandong China department of Neurology Linyi People's Hospital Linyi 276003 Shandong China department of prenatal diagnosis Center The Affiliated Hospital of Qingdae University Qingdao 266003 Shandong China

Dear Editor, Androgen Insensitivity Syndrome （AIS） is an X-linked recessive genetic disorder presenting as male pseudohermaphroditism with gender ambiguity or reversal. According to the reaction to androgens, subje... 详细信息

关键词： missense mutation androgen receptor Chinese family