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Objective To investigate the predictive value of new simplified insulin resistance(IR)assessment indexes in identifying subclinical left ventricular systolic function impairment in patients with type 2 diabetes mellitus(T2DM).Methods A total of 150 T2DM patients with preserved left ventricular ejection fraction(LVEF≥50%)who were admitted to Department of Endocrinology of the First Affiliated Hospital of Air Force Medical University from June 2021 to December 2021 were retrospectively analyzed.All patients underwent two-dimensional speckle tracking echocardiography to measure left ventricular global longitudinal strain(GLS).According to GLS value,the subjects were divided into the normal group(GLS≥18%group,n=80)and the impaired group(GLS<18%group,n=70).Some new simplified IR assessment indicators were calculated and compared between the two groups,including body mass index(BMI),TG/HDL-C ratio,triglyceride-glucose(TyG)index,TyG-BMI index,TyG-WHR and metabolic score for IR(METS-IR).Correlation between the GLS and the new simplified IR assessment indexes was analyzed.The receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficacy of different simplified IR assessment indexes,with the area under the curve(AUC)calculated.Furthermore,according to whether the subjects were complicated with hypertension,binary logistics regression analysis was performed to explore the independent correlation between the simplified IR assessment index and GLS<18%.Results Total 150 were included with aged(54.5±13.7)years with 96(64.0%)men and 54(36.0%)women.Compared with the GLS≥18%group,the TG/HDL-C ratio,TyG index,TyG-BMI,and METS-IR of subjects in the GLS<18%group were significantly increased(P<0.05).Pearson correlation analysis showed that TG/HDL-C ratio,TyG index,TyG-BMI,TyG-WHR,and METS-IR were negatively correlated with GLS(P<0.05).ROC analysis showed that TyG index had a certain predictive value for the evaluation of GLS<18%(AUC=0.678,95%CI 0.591-0.765,P<0.001).Stratification based on hypertension and further adjusting for confounding factors,TyG index remains significantly associated with GLS<18%(OR=3.249,95%CI 1.045-10.103,P=0.042).Conclusions The novel simplified insulin resistance evaluation indexes are closely associated with left ventricular subclinical systolic dysfunction in T2DM patients with preserved ejection fraction.TyG index is an effective index to identify left ventricular subclinical dysfunction in these populations.
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Objective To observe the effect of multi-modal hand hygiene(HH)intervention on HH compliance,as well as the relationship between HH compliance and the healthcare-associated(HA)case infection incidence.Methods From 2014 to 2022,the infection control team in a tertiary first-class hospital implemented multi-modal HH intervention for health care workers(HCWs).The changing trend of HH monitoring data,the correlation be-tween HH compliance rate and HA case infection incidence were analyzed retrospectively.Results The consump-tion of HH products in the wards showed a stable upward trend;HH compliance rate increased from 64.98%in 2014 to 85.01%in 2022(P<0.001),and HA case infection incidence decreased from 1.21%to 0.83%(P<0.05).HH compliance rate was negatively correlated with HA case infection incidence(r=-0.369,P=0.027).HH compliance rates in different regions and job posts in each quarter were increased(P<0.001).For 5 different HH moments in each quarter,HH compliance rate fluctuated slightly before sterile manipulation and after touching patient;presented rising trend after touching surroundings around patient,and decreased before touching patient and after touching patient's body fluid since 2020(P<0.001).Conclusion Multi-modal HH intervention can im-prove the HH compliance of HCWs,improving their HH awareness is conducive to reducing HA case infection incidence.
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Objective:To explore the relationship between gratitude and academic burnout incollege students,as well as the role of psychological well-being and proactive coping in their relationship.Methods:A total of 1 038 college students from 4 universities were selected andassessedwith the Gratitude Scale(GQ-6),Flourishing Scale(FS),Proactive Coping Scale(PCS)and Maslach Burnout Inventory-General Survey(MBI-GS).SPSS macro pro-gram Process and Bootstrap method were used to test the mediating effect.Results:The MBI-GS scores were higher in boys than in girls(P<0.01),and higher in those with left behind experience thanin those without left behind ex-perience(P<0.001).The GQ-6 scores were negatively associated with the MBI-GS scores(β=-0.19,P<0.001).PCS scores played an independent mediating role between GQ-6 scores and MBI-GS scores(Indirect effect=0.05,95%CI=0.02-0.09),while the scores of psychological well-being and proactive coping had a chain mediating effect between gratitude scores and academic burnout scores(Indirect effect=0.06,95%CI=0.03~0.01).Conclusion:It suggests that gratitude is related to academic burnout in college students,and proactive cop-ing plays an independent mediating role,while psychological well-being and proactive coping play a chain media-ting role.
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Crossmodal transfer is the ability to apply the knowledge acquired in one sensory modality to another. Researches on crossmodal transfer investigate how the brain represents information from different sensory modalities, and provide new insights to improve cognitive processing efficiency and reduce repeated learning. To clarify the characteristics and mechanism of crossmodal transfer, this article first introduced the crossmodal transfer effect in different field of research, such as object recognition, category learning, and time perception. After that, the theoretical researches on the representation type of crossmodal transfer were reviewed, mainly including multisensory theory and multisensory mental imagery theory as well as the supportive and opposite findings. The research progresses on the neural mechanism of crossmodal transfer using ERP and fMRI techniques were introduced, mainly including metamodal theory, and multisensory reverse hierarchy theory as well as the supportive and opposite findings. The objective and subjective factors which influenced crossmodal transfer effect were sorted out, in which we suggested that the modality dominance phenomenon supports the metamodal theory, while other factors such as sensory experience, age, setting of learning tasks and stimulus features support theories such as the multisensory hypothesis. Finally, we described the potential applications of the current research findings on crossmodal transfer and pointed out future research questions in this field.
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Objective: To investigate the clinicopathological features of glomuvenous malformation (GVM). Methods: Thirty-one cases of GVM diagnosed at the Henan Provincial People's Hospital from January 2011 to December 2021 were collected. Their clinical and pathological features were analyzed. The expression of relevant markers was examined using immunohistochemistry. The patients were also followed up. Results: There were 16 males and 15 females in this study, with an average age of 11 years (range, 1-52 years). The locations of the disease included 13 cases in the limbs (8 cases in the upper limbs, 5 cases in the lower limbs), 9 cases in the trunks, and 9 cases in the foot (toes or subungual area). Twenty-seven of the cases were solitary and 4 were multifocal. The lesions were characterized by blue-purple papules or plaques on the skin surface, which grew slowly. The lumps became larger and appeared to be conspicuous. Microscopically, GVM mainly involved the dermis and subcutaneous tissue, with an overall ill-defined border. There were scattered or clustered irregular dilated vein-like lumens, with thin walls and various sizes. A single or multiple layers of relatively uniform cubic/glomus cells were present at the abnormal wall, with scattered small nests of the glomus cells. The endothelial cells in the wall of abnormal lumen were flat or absent. Immunohistochemistry showed that glomus cells strongly expressed SMA, h-caldesmon, and collagen IV. Malformed vascular endothelial cells expressed CD31, CD34 and ERG. No postoperative recurrence was found in the 12 cases. Conclusions: GVM is an uncommon type of simple venous malformation in the superficial soft tissue and different from the classical glomus tumor. Morphologically, one or more layers of glomus cells grow around the dilated venous malformation-like lumen, which can be combined with common venous malformations.
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Male , Female , Humans , Child , Glomus Tumor/surgery , Endothelial Cells/pathology , Paraganglioma, Extra-Adrenal/pathology , ImmunohistochemistryABSTRACT
Cataract is one of the major causes of vision loss and even blindness in patients, and surgery is the only effective method to treat it. The pathogenesis and precaution of cataract remain hot issues in ophthalmological research. With the maturation of biotechnology in recent years, modeling methods and species of experimental animals have become more diverse, which are still the mainstay of cataract mechanism research. However, the ideal animal model of cataract has yet to be constructed due to the complexity of human cataract etiology. Herein, the modeling principles, in vivo or in vitro modeling methods, characteristics, and existing problems of animal models of cataract are summarized according to etiology, providing the theoretical foundation for the construction of a comprehensive animal model that more closely resembles the human cataract.
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Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.
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Objective:To compare the prenatal diagnosis and pregnancy outcome of increased nuchal translucency (NT) with or without nuchal cystic hygroma (CH) in fetuses with first-trimester NT ≥5 mm.Methods:Data from 131 fetuses with NT ≥5 mm who received invasive prenatal diagnosis at Guangzhou Women and Children's Medical Center from July 2017 to December 2020 were retrospectively collected and analyzed. Those with a septum in the cyst were grouped as NT with CH group ( n=57), and those without as increased NT without CH group ( n=74). Genetic test results, incidence of structural malformations, survival rate after birth were compared using Chi-square test or Fisher's exact test and non-parametric test. Results:There was no significant difference in the incidence of fetal genetic abnormalities[67.6%(50/74) vs 61.4%(35/57), χ 2=0.54, P=0.464], ultrasonic structural malformations [21.6%(16/74) vs 33.3%(19/57), χ 2=2.26, P=0.133], or in the survival rate (12/14 vs 3/8, P=0.053) between increased NT without CH group and NT with CH group. Conclusions:For increased NT with or without CH, although the two groups had different spectrum of disease, they had a high incidence of chromosomal abnormalities and structural malformations, and both groups had a certain healthy survival rate after birth.
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This paper discussed the characteristics and influencing factors of the body image of oral cancer patients after surgery, and put forward targeted intervention strategies for medical social work, so as to provide clinical pathway reference for the body image adaptation of oral cancer patients. By reviewing relevant studies at home and abroad, it was found that the body image of oral cancer patients has the following characteristics: low level, serious negative impact, lack of psychosocial intervention, and is affected by disease factors, personal trait factors, support system factors, and social situational factors. In this regard, it was proposed to use the professional methods of social work to carry out psychosocial intervention and provide information support for disease factors; according to the individual trait factors, the intervention should be carried out from three aspects: psychological crisis intervention, self-cognitive acceptance, and guidance and encouragement from the advantage perspective; in view of social support system factors, it was suggested that not only pay attention to the benign interaction of existing support systems, but also actively assist patients to expand new support systems; for social situational factors, medical social workers should actively play the role of popular science education and policy advocacy.
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OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).@*METHODS@#Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.@*RESULTS@#Eight fetuses (15.7%) were found with genomic abnormalities, which included 3 chromosomal aneuploidies and 5 copy number variations (CNVs), including one 17q12 microduplication syndrome, one 13q21.33q31.1 microdeletion, one 13q21.32q22.3 deletion, one 13q21.2q31.1 deletion and one 1q43q44 duplication. EDNRB from 13q and HNF1B from 17q12 are candidate genes for fetal DO. No significant difference was found in the detection rate of pathogenic CNVs between the DO only and DO with other anomaly groups (9.5% vs.11.1%, P> 0.05). There were 39 live borns, 1 stillbirth, and 11 artificial abortions (8 with abnormal CMA results).@*CONCLUSION@#There is a correlation between fetal DO and abnormal copy number of the genome, for which prenatal diagnosis is necessary. CMA not only can detect microdeletions/microduplications, but also identify pathogenic genes, which can facilitate prenatal diagnosis, genetic counseling and prognosis for the fetus.
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Female , Humans , Pregnancy , Chromosome Aberrations , DNA Copy Number Variations , Duodenal Obstruction/genetics , Fetus , Microarray Analysis , Prenatal DiagnosisABSTRACT
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 observe the efficacy of addition and subtraction therapy of Danshenyin combined with Wendantang in the treatment to stable angina pectoris (SAP) with stagnation of phlegm and blood stasis, and to explore its protection mechanism for myocardial ischemia. Method:One hundred and thirty-two patients were randomly divided into control group and observation group equally. Finished the 63 cases study both in control group and observation group after dropout, loss of follow-up and withdrawal. Patients in control group and observation group got antianginal drugs and the treatment of drug therapy to control the risk factors. All patients were treated with anti-angina drugs and risk factors control drugs. Patients in control group got Danlou Tablets by oral administration, 5 tablets/time, 3 times/day. Patients in observation group got dispensing decoction pieces of Danshenyin and Wendantang 1 dose/day. The treatment continued for 3 months in both groups. Scores of angina attack were graded every week. Before and after treatment, electrocardiogram treadmill exercise test was made to evaluate myocardial ischemia of coronary heart disease, and scores of phlegm stasis block syndrome and Seattle Angina questionnaire (SAQ) were graded for TCM symptoms and quality of life. Levels of hemorheology index, interleukin-6 (IL-6), tumor necrosis factor-<italic>α</italic> (TNF-<italic>α</italic>), intercellular adhesion molecule-1 (ICAM-1), Cystatin C (CysC), homocysteine (Hcy), ischemic modified albumin (IMA) and macrophage migration inhibitory factor were detected. In addition, safety was evaluated. Result:After treatment, scores of times, duration, degree of angina pectoris, nitroglycerin dosage of angina pectoris and nitroglycerin dosage in the observation group were lower than those in the control group (<italic>P</italic><0.01). Total exercise time, duration of ST depression for 1.0 mm, occurrence time of stable angina pectoris, metabolic equivalent and scores of Duke in the observation group were more than those in the control group (<italic>P</italic><0.01). Score of stagnation of phlegm and blood stasis in the observation group was lower than that in the control group (<italic>P</italic><0.01), while score of SAQ was higher than that in the control group (<italic>P</italic><0.01). Levels of IL-6, TNF-<italic>α</italic>, ICAM-1, CysC, IMA, Hcy, MIF, whole blood viscosity (low cut, high cut), whole blood reducing viscosity, plasma viscosity, platelet aggregation rate and fibrinogen (FIB) in the observation group were lower than those in the control group (<italic>P</italic><0.01). Effect of angina pectoris in observation group was superior to that in control group (<italic>Z</italic>=2.091, <italic>P</italic><0.01). No adverse reactions related to Danshenyin combined with Wendantang were found. Conclusion:Addition and subtraction therapy of Danshenyin combined with Wendantang based on the routine western medicine treatment can control the attack of angina pectoris, relieve the symptoms of phlegm and stasis block syndrome, and improve the quality of life for patients with SAP, showing superior clinical efficacy and safety. In addition, it can improve the hemorheology of patients, inhibit the inflammatory reaction, reduce the stenosis or obstruction of lumen in order to improve the degree of myocardial ischemia.
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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 explore genetic etiology and prognosis for fetuses with increased nuchal translucency (NT).@*METHODS@#A total of 815 fetuses with increased NT (≥ 3.0 mm) were included. The fetuses were grouped by NT thickness and divided into 3.0-3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5- 6.4 mm and ≥ 6.5 mm groups. Based on the presence of additional abnormalities, the samples were divided into increased NT alone group and increased NT and other anomalies group. Chromosomal microarray analysis (CMA) was applied as a first-line test to detect pathogenic copy number variations (CNVs). The outcome of the pregnancies was followed up.@*RESULTS@#One hundred seventy-eight (21.8%) fetuses were found to harbor pathogenic CNVs, which included 138 (77.5%) with chromosomal aneuploidies, 14 (7.9%) with microdeletion/microduplication syndromes, and 26 (14.6%) harboring non-syndromic pathogenic CNVs. A significant difference was found in the detection rate of pathogenic CNVs between groups with different NT thickness. The detection rate of pathogenic CNVs also significantly differed between groups with regard to other structural abnormalities or the overall adverse pregnancy outcome.@*CONCLUSION@#CMA can be used as a first-line test for fetuses with increased NT during early pregnancy, with the overall detection rate of pathogenic CNVs being as high as 21.8%. Our results confirmed that NT thickness is correlated with other structural abnormalities and adverse pregnancy outcome, especially for those with NT ≥ 4.5 mm. At the same time, fetuses with other structural abnormalities are at an increased risk for adverse pregnancy outcome.
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Objective To monitor the epidemic status of human soil-borne nematodiasis in Danyang City, so as to provide scientific evidence for formulating control measures. Methods The soil-borne nematode infections were tested using a modified Kato-Katz technique among residents aged more than 3 years living in Danyang City from 2012 to 2018, and the Enterobius vermicularis eggs were detected using the transparent adhesive tape anal swab method among children at ages of 3 to 12 years. Results A total of 13 540 residents were monitored for soil-borne nematode infections from 2012 to 2018, and the prevalence of human soil-borne nematode infections was 0.45%. The prevalence of Ascaris lumbricoides, Trichuris trichura and Enterobius vermicularis infections was 0.32%, 0.12% and 0.01%, respectively, and a single parasite infection was predominant. There were significant differences in the prevalence of soil-borne nematode (χ2 = 42.610, P < 0.05), A. lumbricoides (χ2 = 26.276, P < 0.05) and T. trichura (χ2 = 20.692, P < 0.05). The prevalence of human soil-borne nematode infections was 0.45% in males and 0.47% in females, and lower prevalence was found in local residents than in floating population (0.28% vs. 0.66%; χ2 = 10.561, P < 0.05). The highest infection was found in subjects at ages of 31 to 40 years (0.59%), followed by in subjects at ages of 41 to 50 years (0.56%), and the lowest infection was seen in children at ages of 3 to 5 years (0.27%). In addition, the prevalence of human soilborne nematode infections varied significantly in occupation (χ2 = 75.692, P < 0.05), with the highest infection seen in boatmen. Among the 5 078 children monitored, the prevalence of E. vermicularis infection was 0.37%, and the prevalence of E. vermicularis infection varied significantly in year (χ2= 15.466, P < 0.05). Conclusion The human soil-borne nematode infection is at a low level in Danyang City; however, the surveillance of soil-borne nematodiasis remains to be intensified in children living in rural areas and immigrant populations.
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Objective To establish an absolute reverse transcription fluorescence quantitative PCR method (RT-qPCR) that can accurately quantify the circRNA hsa_circ_0004123, and verify the copy number of hsa_circ_0004123 in the leukemia cell line. Methods Total RNA was extracted from HMy2.CIR cell line, and reverse transcribed to cDNA. Using cDNA as template, a 236 bp characteristic segment containing the back-spliced junction of hsa_circ_0004123 transcript was cloned and inserted into the pGM-T vector, and then the recombinant plasmid was sequenced. Regarding the gradient diluted recombinant plasmid as standard substance, the standard curve of hsa_circ_0004123 was established by SYBR fluorescent staining RT-qPCR, and then the copy number of hsa_circ_0004123 in leukemia cell lines (HMy2.CIR, Jurkat, Raji, K562) were verified. Results The absolute RT-qPCR method was established that can accurately quantify the copy number of hsa_circ_0004123 with wide linear range (9.63×103–9.63×109) copies/μl, high sensitivity (4528±516) copies/μl, intra-batch coefficient of variation (CV) of 0.30%-1.86%, inter-batch CV of 1.40%-2.30%, and a single peak dissolution curve. The copy number of hsa_circ_0004123 in leukemia cell lines HMy2.CIR, Jurkat, Raji and K562 was detected respectively. The expression of hsa_circ_0004123 was significantly different (P<0.001) in the 4 kinds of leukemia cell lines. Conclusion The absolute RT-qPCR method used to detect the copy number of hsa_circ_0004123 has a wide linear range, high sensitivity and specificity, and good repeatability, and lays a technical foundation for accurate quantification of hsa_circ_0004123 in leukemia.
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Objective To monitor the epidemic status of human soil-borne nematodiasis in Danyang City, so as to provide scientific evidence for formulating control measures. Methods The soil-borne nematode infections were tested using a modified Kato-Katz technique among residents aged more than 3 years living in Danyang City from 2012 to 2018, and the Enterobius vermicularis eggs were detected using the transparent adhesive tape anal swab method among children at ages of 3 to 12 years. Results A total of 13 540 residents were monitored for soil-borne nematode infections from 2012 to 2018, and the prevalence of human soil-borne nematode infections was 0.45%. The prevalence of Ascaris lumbricoides, Trichuris trichura and Enterobius vermicularis infections was 0.32%, 0.12% and 0.01%, respectively, and a single parasite infection was predominant. There were significant differences in the prevalence of soil-borne nematode (χ2 = 42.610, P < 0.05), A. lumbricoides (χ2 = 26.276, P < 0.05) and T. trichura (χ2 = 20.692, P < 0.05). The prevalence of human soil-borne nematode infections was 0.45% in males and 0.47% in females, and lower prevalence was found in local residents than in floating population (0.28% vs. 0.66%; χ2 = 10.561, P < 0.05). The highest infection was found in subjects at ages of 31 to 40 years (0.59%), followed by in subjects at ages of 41 to 50 years (0.56%), and the lowest infection was seen in children at ages of 3 to 5 years (0.27%). In addition, the prevalence of human soilborne nematode infections varied significantly in occupation (χ2 = 75.692, P < 0.05), with the highest infection seen in boatmen. Among the 5 078 children monitored, the prevalence of E. vermicularis infection was 0.37%, and the prevalence of E. vermicularis infection varied significantly in year (χ2= 15.466, P < 0.05). Conclusion The human soil-borne nematode infection is at a low level in Danyang City; however, the surveillance of soil-borne nematodiasis remains to be intensified in children living in rural areas and immigrant populations.
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Objective To introduce real-time polymerase chain reaction (real-time PCR) into the initial sample screening, to improve the effectiveness of traditional trace sample extraction method.Methods Serial diluted 9947A was quantified using a Rotor-Gene Q real-time RT-PCR, and the genotype was determined with AmpF?STRTMIdentifilerTMPlus PCR kit.Thus a quantitative threshold model was built to obtain complete STR typing from the trace samples.In addition, 903 trace samples were used to verify the reliability.Results When the samples quality concentration was>0.03 ng/μL, the effective STR typing could be directly obtained;when the concentration was>0.01 and≤0.03 ng/μL, the effective STR typing could be directly obtained by optimizing the PCR thermal cycle parameters (30 cycles);and when the concentration was≤0.01 ng/μL, no effective map could be obtained even if PCR was optimized.Conclusion The real-time PCR quantitative threshold model is effective for the screening of trace samples.
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OBJECTIVE@#To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).@*METHODS@#WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks.@*RESULTS@#Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies.@*CONCLUSION@#The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.