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【Objective】 To investigate the expression profile of circRNA in nuclear receptor NURR1 overexpressed prostate cancer (PCa) cells, so as to provide reference for revealing the mechanism of PCa progression. 【Methods】 The expression of NURR1 in PCa was analyzed with UALCAN and TNMplot. The distinct circRNAs in NURR1 overexpressed PCa cells were screened with RNA-sequencing. The functions and signal pathways of differentially expressed circRNA molecules were analyzed with GO and KEGG. 【Results】 The circ_0000915 was significantly downregulated in DU145, LNCaP and PC3 cells. In NURR1 overexpressed DU145 cells, circ_0005991 was up-regulated, while circ_0001460 and circ_0001315 were down-regulated. In NURR1 overexpressed LNCaP cells, circ_0040729 and circ_0000722 were significantly up-regulated. In NURR1 overexpressed PC3 cells, circ_0001577, circ_0000854 and circ_0018168 were up-regulated, while circ_013035, circ_0003028, circ_0082096 and circ_0005320 were down-regulated. KEGG analysis revealed that the differentially expressed circRNAs were significantly associated with dorsal/ventral neural tube patterns, protein folding chaperones, disordered domain specific binding, positive regulation of BMP signaling pathways, and neural tube patterning functions. 【Conclusion】 CircRNAs play an important role in NURR1 mediated PCa progression, but there are certain differences among different prostate cancer cell types. The regulatory mechanism between NURR1 and circ_0000915 in the progression of PCa needs further investigation.
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AIM: To evaluate the efficacy of Ahmed glaucoma valve implanting through the ciliary sulcus in the treatment of intraocular lens(IOL)glaucoma.METHODS: Retrospective case series study. The clinical data of 18 patients(18 eyes)with IOL glaucoma from February 2020 to February 2022 in Liuzhou Red Cross Hospital were collected. All patients underwent Ahmed glaucoma valve implanting through the ciliary sulcus. The visual acuity, intraocular pressure, corneal endothelial cell density, corneal endothelial cell loss rate and complications were observed before operation and 1, 3, 6 and 12mo after operation.RESULTS: The mean intraocular pressure before operation was 43.41±5.33 mmHg. The mean intraocular pressure at 1, 3, 6 and 12mo after operation were 12.11±3.26, 13.82±4.12, 13.54±3.83 and 15.80±4.35 mmHg respectively. The mean intraocular pressure at each follow-up point after operation was significantly lower than that before operation(F=203.40, P<0.01). The corneal endothelial cell density at each time point after surgery was lower than that before surgery(F=6.18, P<0.01), but there were no significantly differences in the density and loss rate of corneal endothelial cell at 1, 3, 6 and 12mo after surgery(P>0.05). Furthermore, the overall surgery success rate was 83%.CONCLUSIONS: Ahmed glaucoma valve implanting through the ciliary sulcus is safe and effective in the treatment of IOL glaucoma, and the damage to corneal endothelial cells is mild. The corneal endothelial cells density doesn't decrease with time after surgery.
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Objective:To study the feasibility of control charts in the quality management of hospital statistical data as a reference for improving such management.Methods:Main business indicators of the main campus and some business indicators of the affiliated campus of a tertiary general hospital from January to May 2022 were selected. K-S test and chi-square goodness of fit test were used to test data in its statistical daily report, analyzing whether the data conform to the specific distributions. Then appropriat control chart were used according to the data type and distribution type. Minitab 21.1 software was used to draw the hospital data quality control chart, and data quality was monitored by analyzing the distribution of data points in the control chart.Results:The test found that the number of admissions, ultrasound examinations and emergency department visits in the main campus, and CT examinations in the affiliated campus, conformed to normal distribution, and single value control charts were applied. The number of ambulance trips in the main campus and the affiliated campus conform to Poisson distribution, and the defect number control chart was applied. The number of inpatient deaths in the main campus conform to a geometric distribution, and a rare event control chart was applied. The volume of admissions and ultrasound examinations in the main campus were mostly influenced by other factors, and the single-value selective control chart was used to further determine the cause of abnormal data distribution. The results of the control chart analysis showed that, there were no abnormal points in the data distribution of admissions, color ultrasound volume and in-hospital deaths in the main campus, two abnormal points in the CT examination volume in the affiliated campus. The control charts for the number of emergency department visits in the main campus and the number of ambulance trips in the main and affiliated campuses each had one outlier. It was verified that one anomaly in the volume of CT examinations in the affiliated campus and one anomaly in the number of ambulance trips in the affiliated campus were caused by data errors, while the other data were correct.Conclusions:It is feasible to use control charts to monitor the quality of hospital data, which can be used as a quality management tool to assist the quality management of hospital data.
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OBJECTIVE@#To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.@*METHODS@#The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups.@*RESULTS@#A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history.@*CONCLUSION@#For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.
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Female , Humans , Pregnancy , Fetal Diseases , Fetus/diagnostic imaging , Prenatal Diagnosis , Technology , Ultrasonography, Prenatal , Exome SequencingABSTRACT
Objective:To evaluate the value of whole exome sequencing (WES) in prenatal clinical application.Methods:A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed.Results:Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results.Conclusions:WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data.
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Objective:To explore the application value of whole genome and high resolution chromosome microarray analysis (CMA) in genetically etiological diagnosis of infants and young children with congenital heart disease (CHD).Methods:The clinical data of 130 infants and young children with CHD who were hospitalized and received CMA test at the Department of Pediatrics, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2016 to December 2018 were retrospectively analyzed.The whole genome CMA test was carried out as per the standard operating procedure of American Affymetrix CytoScan HD platform.The results were analyzed by using chromosome analysis suite (ChAS) software and related bioinformatics.CHD patients were divided into the isolated CHD group and the syndromic CHD group according to whether they had extracardial abnormalities.According to the CHD phenotype features of these 2 groups obtained by anatomical results, patients were divided into the simple CHD group and the complex CHD group.Results:Among 130 CHD infants and young children receiving CMA, there were 60 clinically significant copy number variations (CNVs) detected by CMA in 53 patients, with a diagnostic rate of 40.8%(53/130 cases). The pathogenic CNVs of 32 patients (24.6%) were less than 10 7 bp.There were 29 cases (54.7%) of genetic syndromes related to chromosomal microdeletion or microduplication.22q11.2 microdeletion syndrome, Williams-Beuren syndrome and Wolf-Hirschhorn syndrome were the most common syndromes.The detection rates of pathogenic CNVs between the isolated CHD group [42.8% (30/70 cases)] and the syndromic CHD group [38.3% (23/60 cases)] was not statistically significantly different ( P=0.60). The detection rates of pathogenic CNVs between the simple CHD group [34.4% (20/58 cases)] and the complex CHD group [45.8% (33/72 cases)] was not statistically significantly different ( P=0.19). By genotypic and phenotypic analysis, genes such as SUZ12, DGCR6, YWHAE, CRKL, LZTR1, DLG1, ADAP2 and TBX6 were identified as potential candidate pathogenic genes of CHD. Conclusions:CMA has important application value in CHD in infants and young children.It is recommended that CMA should be used as the first-line genetic detection technology for CHD infants and children.CHD patients of various types should be tested by CMA.
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Objective To investigate and control the outbreak of infection caused by carbapenem-resistant Klebsiella pneumoniae (CRKP) in a gastroenterology intensive care unit (ICU), so as to provide reference for the prevention and control of clinical multidrug-resistant organisms (MDROs).Methods Epidemiological investigation was conducted on 3 patients with CRKP infection in a gastroenterology ICU on January 21-31, 2018, specimens were collected with environmental biology monitoring method, CRKP in environment was searched, homology between patients and environmental isolates were analyzed by pulsed-field gel electrophoresis (PFGE).Results Three patients were all isolated CRKP from sputum and blood specimens, all were male, with adjacent beds in the same ward, and treated by the same doctor.The number of isolated CRKP and infection rate in January 2018 were higher than those in other months, infection rate was significantly different (χ2=13.67, P＜0.01).A total of 102 environmental specimens were collected, including air and surface of objects, only 1 of which (nurse's uniform) was isolated 1 strain of KP.PFGE typing of KP isolated from patients and environment showed that there were two genotypes A and B, KP isolated from uniform of a nurse, hydrops abdominis and blood specimen of patient at bed 07, blood specimen of patient at bed 08, as well as sputum and blood specimen of patient at bed 09 were all type A, KP isolated from sputum specimen of patient at bed 07 was type B, KP isolated from hydrops abdominis in patient at bed 09 was not be typed.After comprehensive intervention, CRKP was not no longer isolated from 3 patients, and there was no new case in the ward.Conclusion Imperfect implementation of prevention and control measures for MDROs by health care workers may be an important cause for the spread of CRKP.
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<p><b>OBJECTIVE</b>To explore the genetic etiology of fetuses with ventricular septal defects (VSD) using chromosomal microarray analysis (CMA).</p><p><b>METHODS</b>A total of 248 fetuses were divided into isolated VSD group, VSD with other cardiac and/or great vessels malformation group, VSD with extra-cardiac anomalies group (including malformation and sonographic soft markers), and VSD with both cardiac and extra-cardiac anomalies group. Standard karyotyping was carried out for all fetuses, and CMA was performed for 6 fetuses with an abnormal karyotype and a proportion of fetuses with a normal karyotype. All cases were followed up, and neonates were followed up until 1 year of age.</p><p><b>RESULTS</b>Chromosomal abnormalities were identified in 60 (24.2%) of the 248 fetuses. For 6 of the fetuses subjected to further CMA analysis, the origin of abnormal chromosomes were clarified, among which 2 have overlapped with the critical region of Wolf-Hirschhorn syndrome. Candidate genes for VSD included WHSC1, LBX1, LDB3 and BBS10. For 143 fetuses with a normal karyotype, CMA has identified pathogenic copy number variations (CNVs) in 11 cases (7.7%). These included 9 well-known microdeletion or microduplication syndromes, including 22q11.2 microdeletion, 17p11.2 microdeletion (Smith-Magenis syndrome), 17p13.3 microdeletion (Miller-Dieker syndrome), 1p36 microdeletion, 1q21.1 microduplication and 4q deletion. Candidate genes for VSD included TBX1, LZTR1, FAT1, AKAP10, SKI, PRDM26, GJA5, ERCC4 and YWHAE. For 48.7% of the fetuses with benign CNVs, spontaneously closure has occurred within the first year of life.</p><p><b>CONCLUSION</b>CMA may increase the detection rate of submicroscopic imbalances by 7.7%. No significant correlation between different groups of VSD and the pathogenic CNVs was observed. Whole-genome CMA should be recommended to the fetuses with VSD but a normal karyotype. Nearly half of VSDs with benign CNVs may close spontaneously within the first year of life.</p>
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Humans , Infant , Infant, Newborn , Chromosome Aberrations , Chromosome Deletion , DNA Copy Number Variations , Heart Septal Defects, Ventricular , Genetics , Karyotyping , Microarray Analysis , Methods , Prenatal Diagnosis , MethodsABSTRACT
Objective To investigate the occurrence and risk factors of vascular access infection(VAI) in hemodialysis outpatients.Methods Prospective surveillance method,monitoring methods was formulated and adopted by referring to the relevant guidelines and regulations at home and abroad,targeted surveillance was performed among all outpatients receiving hemodialysis in a hospital from June 1,2014 to May 31,2016.Results A total of 584 outpatients received hemodialysis from June 1,2014 to May 31,2016,with 64 203 times of vascular access,79 patients developed 85 cases of infection,case incidence of VAI was 1.32％.36 cases(42.35％) were infection at vascular puncture sites,49 (57.65％) were vascular access-related bloodstream infection.Among patients with different types of vascular access,incidence of VAI was the highest among patients with artificial vascular graft(19.67％),followed by those with non tunneled central venous catheter(4.91％),with tunneled central venous catheter (0.73％),and with arteriovenous fistula(0.09％).Age＞ 60 years,hemodialysis time＞ 1 year,diabetes,and hypertension were risk factors for VAI in outpatients with hemodialysis(all P＜0.05).39 strains of pathogens were isolated from 49 patients with vascular access-related bloodstream infection,including 36 (92.31％) gram positive bacteria,mainly Staphylococcus aureus (n =30,6 of which were methicillin-resistant Staphylococcus aureus);3 (7.69 ％) gram-negative bacteria.Conclusion Strengthening prospective targeted surveillance can better understand the status,characteristics,and risk factors of VAI in hemodialysis outpatients,it is conducive to taking targeted prevention and control measures,thus reduce the incidence of VAI in hemodialysis outpatients.
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Objective@#To investigate the characteristics of the expression of the RIKEN cDNA 1700008O03 (1700008O03Rik) gene in the testis of the mouse from birth to sexual maturity and its potential role in regulating spermatogenesis.@*METHODS@#Using mouse gene expression profile microarray, we screened the testis-specific gene 1700008O03Rik from the mouse. We studied the expression characteristics of the gene in the development of the mouse testis by reverse transcription PCR, quantitative real-time PCR, Western-blot, immunohistochemistry and immunofluorescence, and analyzed the structure of the 1700008O03Rik protein and its homology with other species using the bioinformatic software.@*RESULTS@#1700008O03Rik gene was highly expressed in the testis of the mouse, increasing in an age-dependent manner, and mainly in the endochylema of oblong spermatozoa. Bioinformatic analysis revealed a high homology of the 1700008O03Rik protein between human and mice, and phylogenetic tree analysis showed it to be highly conserved in mammalian evolution.@*CONCLUSIONS@#1700008O03Rik is a highly expressed gene in the mouse testis, mainly in the endochylema of oblong spermatozoa, which may be involved in the regulation of spermatogenesis in mice.