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1.
Article in Chinese | WPRIM | ID: wpr-928439

ABSTRACT

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.


Subject(s)
Amniotic Fluid , Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Genomics , Humans , Pregnancy , Pregnancy Trimester, Second , Pregnant Women , Prenatal Diagnosis/methods , Technology
2.
Journal of Clinical Hepatology ; (12): 563-571, 2022.
Article in Chinese | WPRIM | ID: wpr-922955

ABSTRACT

Objective To investigate the effect of long non-coding RNA (lncRNA) LNC01309 on the proliferation and migration abilities of human hepatocellular carcinoma (HCC) cells and its mechanism of action. Methods HCC samples and corresponding adjacent tissue samples were collected from 12 patients with HCC who underwent surgical treatment in The Sixth Medical Center of PLA General Hospital from February 2018 to June 2019, and quantitative real-time PCR was used to measure the relative expression level of LNC01309. Quantitative real-time PCR was also used to measure the expression level of LNC01309 in human hepatoma cell lines (HepG2, SNU-398, and Hep3B) and the human immortalized normal liver cell line THLE-2. After LNC01309 was overexpressed in HepG2 cells, the cells were divided into plasmid control group (pEXP-control) and overexpression group (pEXP-LNC01309). CCK-8 assay was used to observe the change in cell proliferation, and wound healing assay and Transwell assay were used to observe migration ability. RNA co-immunoprecipitation was used to detect the interaction between LNC01309 with RBM38, with cells divided into IgG group and RBM38 antibody group, and cycloheximide chase assay was used to analyze the effect of LNC01309 on the stability of RBM38 protein. RBM38 was overexpressed in HepG2 cells to conduct the recovery experiment, and CCK-8 assay, wound healing assay, and Transwell assay were used to observe the changes in cell proliferation and migration abilities. The t -test was used for comparison of continuous data between two groups. Results The mean expression level of LNC01309 in HCC tissue was significantly higher than that in adjacent tissue (4.225±2.285 vs 1.541±0.530, t =3.618, P =0.004), and the relative expression level of LNC01309 in hepatoma cells (HepG2, SNU-398, and Hep3B) was also significantly higher than that in normal hepatocytes (THLE-2) ( t =4.231、6.489、14.480, all P < 0.05). Compared with the control group, HepG2 cells with the overexpression of LNC01309 had significant increases in growth rate (OD 450 value at 96 hours: 1.885±0.107 vs 2.527±0.234, t =4.330, P =0.012) and migration ability (11.65%±2.40% vs 35.66%±4.90%, t =9.837, P < 0.001; 100.00%±3.11% vs 161.00%±35.93%, t =4.399, P =0.005); however, the upregulated proliferation and migration abilities of hepatoma cells induced by LNC01309 overexpression were partially inhibited by RBM38 (OD 450 value at 96 hours: 2.500±0.227 vs 1.913±0.282, t =2.812, P =0.048; 168.00%±9.43% vs 117.20%±18.03%, t =6.622, P < 0.001). Compared with the IgG control group, RBM38 antibody significantly enriched the precipitation of LNC01309 ( t =3.846, P =0.031). The results of cycloheximide chase assay showed that the LNC01309 overexpression group had a significant reduction in the stability of RBM38 protein ( t =8.038, P =0.001). Conclusion The newly identified LNC01309 reduces the stability of RBM38 protein through interaction with RBM38 and promotes the proliferation and migration of HCC cells.

3.
Article in Chinese | WPRIM | ID: wpr-912674

ABSTRACT

Objective:To observe the analgesic effect of local anesthesia combined with nerve block anesthesia on golden microneedles for improving facial aging.Methods:Between December 2018 and December 2019 in Burn and Plastic Surgery of Nanchong Central Hospital, sixty female patients (between 30 and 58 years old, with an average of 45.2 years old) with natural facial skin aging were randomly divided into two groups: Group A: surface anesthesia group (30 cases); Group B: local anesthesia combined with nerve block anesthesia (30 cases). Intraoperative and postoperative pain scores, length of operation, and incidence of adverse reactions were compared between groups A and B.Results:Pain score during surgery was (6.90±0.96) points in Group A, (3.63±0.72) points in Group B. The difference between the two groups was statistically significant ( t=14.93, P<0.05); Pain score at 30 minutes after operation was (2.03±0.62) in Group A, (0.77±0.73) in Group B, the difference between the two groups was statistically significant ( t=7.28, P<0.05). There was no statistically significant difference between the two groups in the pain score at 24 hours after operation ( P>0.05); The operation process in group B was simplified, and the treatment time was significantly shortened. The difference between the two groups was statistically significant ( t=17.93, P<0.05). Conclusions:The method of local anesthesia combined with nerve block anesthesia is used in the treatment of gold microneedles to improve the analgesic effect in facial aging, which significantly shortens the treatment time and has fewer adverse reactions. This method is worth popularizing.

4.
Article in Chinese | WPRIM | ID: wpr-912651

ABSTRACT

Objective:To investigate the therapeutic effect of skull drilling and/or grinding combined with artificial dermis and vacuum sealing drainage in repairing scalp defects with skull exposure.Methods:From October 2014 to May 2018, 18 patients with scalp defect and skull exposure were treated in the Department of Burn and Plastic Surgery, the Second Clinical College of North Sichuan Medical College, including 10 males and 8 females, with an average age of 64 years (range, 34-86 years). The patients were divided into two groups: group A (by drilling skull or/and grinding combined with artificial dermis cover and vacuum sealing drainage plus two split thickness skin graft repair) and group B (by drilling skull or/andgrinding combined with artificial dermis cover plus two covering leather grinding stage split thickness skin graft repair), 9 cases in each group. The head wound granulation tissue, postoperative complications, skin graft survival rate and wound healing time were compared between the two groups. Vancouver scar assessment scale (VSS) was used to evaluate the wound healing in the two groups.Results:The time of granulation cultivation in group A and group B was (16.44±1.42) days and (29.11±13.32) days, the difference was statistically significant ( P<0.05); The wound healing time of group A and group B was (26.00±3.32) days and (40.67±14.37) days, the difference was statistically significant ( P<0.05); The postoperative complications of group A and group B were 1 case and 5 cases respectively, the difference was statistically significant ( P<0.05). The skin graft survival rates of group A and group B were (97.11±3.44)% and (95.00±4.74)%, the difference was not statistically significant ( P>0.05); The wound scar VSS scores of group A and group B were (7.67±1.32) points and (8.78±1.99) points, the difference was not statistically significant ( P>0.05). Conclusions:By drilling skull and/or grinding combined with artificial dermis cover and vacuum sealing drainage and two stage split thickness skin graft for repairing scalp defect with skull exposure wound can not only better scalp defect with skull exposure wounds, and reduce the postoperative complications, and significantly accelerate wound healing, but also can effectively improve the quality of wound healing, which is worthy of clinical application.

5.
Article in Chinese | WPRIM | ID: wpr-912435

ABSTRACT

Objective:To summarize and analyze the risk of pregnancy recurrence of women with Duchenne muscular dystrophy (DMD) birth history in families with new DMD gene mutations, clarify the laws of DMD gene mutations and discuss the mode of genetic counseling in such families.Methods:Collected DMD families from January 2013 to December 2017 in Henan Provincial People′s Hospital. Firstly, the 79 exons of DMD gene were analyzed by multiplex ligation-dependent probe amplification (MLPA) in DMD patients and their mothers. The families that DMD patients with DMD gene mutations but no mutations in their mothers were selected for this study, and then MLPA combined with STR-gene linkage analysis were used to perform prenatal diagnosis for females in these DMD gene new mutation families.Results:A total of 64 families with new DMD gene mutations were included in this study. All mutations were DMD gene exon deletion mutations. A total of 65 fetuses were conducted prenatal diagnosis, included 26 SRY negative, 39 SRY positive; 63 fetuses′ DMD gene normal and 2 fetues′ DMD gene with exon deletion mutations. The results of postpartum follow-up and prenatal diagnosis were consistent.Conclusions:Exon mutations in newly mutated DMD families were mainly manifested as exon deletion, mainly presented in the 45-55 exon region. For families with new DMD mutations, even if there is no DMD gene mutation in women which had reproductive history of DMD, prenatal diagnosis for DMD during pregnancy was still recommended.

6.
Article in Chinese | WPRIM | ID: wpr-912432

ABSTRACT

Objective:To detect the pathogenic gene of the three pedigrees with hereditary multiple exostosis, and to provide evidences for genetic counselling and prenatal diagnosis.Methods:The three families were admitted to the Institute of Medical Genetics of Henan Provincial People′s Hospital due to hereditary multiple exostosis from January 2018 to December 2020. Detail medical history and the blood samples of the family members were collected after they signed the informed consent forms. The pathological mutations were selected from the proband using whole exome sequencing (WES). Sanger sequencing was used to conduct the co-segregation analysis of the family members. The pathogenicity of the mutation was analyzed in combination with ACMG guidelines.Results:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were detected in the probands through whole exome sequencing. The same mutations were found in the patients from these three families, while the mutation was not detected among the healthy family members. These variations have co-segregated with the disease phenotype. According to ACMG guidelines, all mutations in these three families meet the criteria of pathogenic variations. Conclusion:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were identified to be responsible for hereditary multiple exostosis in these families.

7.
Article in Chinese | WPRIM | ID: wpr-911377

ABSTRACT

Objective:To evaluate the effect of canagliflozin on intrarenal fat content and oxygenation in newly-diagnosed type 2 diabetes patients.Methods:Twenty-three newly-diagnosed type 2 diabetes patients were divided into canagliflozin( n=11) and glimepiride control( n=12) groups .Both groups received MRI scanning with Dixon MRI and BOLD MRI sequence to assess patients′ intrarenal fat content, oxygenation level before treatment and 24 weeks after treatment. Fasting blood glucose, glycosylated hemoglobin, blood uric acid, blood lipids, blood pressure, weight, and other metabolic index were also tested before and after treatment. Furthermore, the relationship between body mass index(BMI) and intrarenal fat content and the correlation between changes in intrarenal fat content and improvement in renal hypoxia were analyzed. Results:No significant differences were found in baseline age, body weight, fasting blood glucose, glycosylated hemoglobin, blood lipid, and serum uric acid between the two groups. There was no significant difference in fasting blood glucose, glycosylated hemoglobin, cholesterol(CHO), low-density lipoprotein-cholesterol(LDL-C), and triglycerides(TG) levels in both groups after 12 and 24 weeks of treatment. The decrease in body weight, blood uric acid level, and diastolic blood pressure from baseline in the canagliflozin group was greater than those in the control group( P<0.05). Two groups of patients with type 2 diabetes at baseline had no obvious difference in intrarenal fat content, and the patients′ BMI showed no obvious correlation with degree of intrarenal fat accumulation. Canagliflozin treatment for 24 weeks could reduce intrarenal fat content, which was higher than that of control group. The R2 * values of renal cortex and medulla in the canagliflozin group decreased from baseline by 19.22% and 22.63% respectively( P<0.05), whereas no significant difference was seen in the glimepiride control group. The decrease of intrarenal fat content in the canagliflozin group was related to the improvement of renal cortex and medulla oxygenation. Conclusion:Canagliflozin can reduce intrarenal fat accumulation and improve renal cortical hypoxia in newly diagnosed type 2 diabetes patients with normal renal function.

8.
Article in Chinese | WPRIM | ID: wpr-907539

ABSTRACT

Objective:To explore the mechanism of a novel BMX splicing variant induced epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) gefitinib resistance in lung cancer.Methods:Stable transgenic cell line PC9-BMXΔN and HCC827-BMXΔN were constructed by lentivirus infection of PC9 and HCC827 cells carrying EGFR mutation. The cells were divided into PC9-Vec group (PC9 cells transfected with empty vector), PC9-BMX group (PC9 cells stably expressing BMX), PC9-BMXΔN group (PC9 cells stably expressing BMXΔN) and HCC827-Vec group (HCC827 cells transfected with empty vector), HCC827-BMXΔN group (HCC827 cells stably expressing BMXΔN). Quantitative real-time PCR was used to detect the expression levels of mRNA. The protein expression levels in each group were detected by Western blotting. The cells in the PC9-Vec group and PC9-BMXΔN group were treated with 0, 0.01, 2.00, 50.00, 100.00, 200.00 nmol/L and 2.00, 4.00 μmol/L gefitinib. The cells in the HCC827-Vec group and HCC827-BMXΔN group were treated with 0, 0.01, 1.00, 10.00, 100.00 nmol/L and 1.00 μmol/L gefitinib. MTT method was used to detect cell viabilities.Results:The PC9-BMXΔN cells were scattered and showed a fibroblast-like morphology. Compared with the PC9-Vec cells, the relative expression levels of fibronectin, N-cadherin, vimentin, Snail, Slug and TWIST 2 mRNA in PC9-BMXΔN cells were up-regulated. Compared with the PC9-Vec cells and PC9-BMX cells, the expression levels of fibronectin and vimentin protein in PC9-BMXΔN cells were up-regulated; while the expression level of E-cadherin protein in PC9-BMXΔN cells was significantly down-regulated. Compared with the PC9-Vec cells, the cell viabilities of PC9-BMXΔN cells treated with 0.01 nmol/L [(99.11±2.16)% vs. (91.29±1.91)%, t=-4.701, P=0.011], 2.00 nmol/L [(80.41±1.48)% vs. (63.36±2.14)%, t=-11.324, P<0.001], 50.00 nmol/L [(80.83±5.38)% vs. (60.22±3.61)%, t=-5.507, P=0.005], 100.00 nmol/L [(75.54±3.46)% vs. (59.93±1.91)%, t=-6.836, P=0.002], 200.00 nmol/L [(77.57±6.53)% vs. (56.70±2.88)%, t=-5.064, P=0.007], 2.00 μmol/L [(70.22±3.45)% vs. (53.14±0.89)%, t=-8.309, P=0.001], 4.00 μmol/L [(68.66±4.67)% vs. (52.30±2.59)%, t=-4.882, P=0.008] gefitinib were significantly increased, with statistically significant differences. Similarly, compared with the HCC827-Vec cells, the cell viabilities of HCC827-BMXΔN cells treated with 1.00 nmol/L [(64.36±2.49 )% vs. (47.13±4.21)%, t=-7.067, P=0.019], 10.00 nmol/L [(63.25±5.87)% vs. (43.28±2.95)%, t=-5.267, P=0.006], 100.00 nmol/L [(49.47±5.74)% vs. (37.12±4.92)%, t=-2.830, P=0.047], 1.00 μmol/L [(49.05±3.34)% vs. (32.06±4.73)%, t=-5.073, P=0.007] gefitinib were significantly increased, with statistically significant differences. Gefitinib treatment could significantly inhibit the expression levels of p-EGFR and p-ERK1/2 both in PC9-Vec cells, PC9-BMX cells and PC9-BMXΔN cells. Compared with the PC9-Vec cells and PC9-BMX cells, the expression level of p-EGFR in PC9-BMXΔN cells was significantly increased after gefitinib treatment for 8 h (0.91±0.04 vs. 0.81±0.04 vs. 0.80±0.05, all P<0.05); the expression levels of p-ERK1/2 in PC9-BMXΔN cells were significantly increased after gefitinib treatment for 2 h (0.64±0.06 vs. 0.38±0.12 vs. 0.37±0.14), 4 h (1.28±0.06 vs. 1.08±0.06 vs. 1.11±0.07), and 8 h (0.75±0.04 vs. 0.55±0.05 vs. 0.60±0.07), with statistically significant differences (all P<0.05). Conclusion:BMXΔN is involved in EGFR-TKI gefitinib resistance in lung cancer, which may be achieved by inducing cells to undergo epithelial-mesenchymal transition and activating the ERK/MAPK signaling pathway.

9.
Article in Chinese | WPRIM | ID: wpr-885827

ABSTRACT

Objective:To access the benefits and harms of remote ischemic preconditioning(RIPC) in patients undergoing cardiac surgery with cardiopulmonary bypass.Methods:An electronic and manual search of literature published before Mar 2020 was conducted using Pubmed, EMBASE, Cochrane Library for randomized controlled trials(RCTs), CNKI, CBM, WanFang and VIP. 23 studies involving in 5 025 participants were included. Patients were randomly assigned to either remote ischemic preconditioning group(n=2 524) or control group(n=2 521). Remote ischemic preconditioning consisted of 3-4 cycles of lower limbs or upper limbs ischemia and reperfusion with an automated cuff inflator. Clinical data and the levels of injury biomarkers were collected. The main outcomes were the incidence of adverse events, mortality in the hospital, and the post-operative troponin concentration. The effective values of dichotomous variables or continuous variables were estimated by Relative risk( RR) or by mean differences( MD), standardized mean differences( SMD) with 95% confidence intervals( CI) respectively. Results:In general risk of bias varied from low to moderate risk of bias across included studies, and insufficient detail was provided to inform judgement in several cases. There were no significant differences between the two groups with regard to all-cause mortality in hospital( RR=1.27, 95% CI: 0.84-1.91, P=0.26), no-fatal myocardial infarction( RR=0.92, 95% CI: 0.79-1.07, P=0.27) , new stroke( RR=0.96, 95% CI: 0.61-1.50, P=0.84), new atrial fibrillation( RR=0.98, 95% CI: 0.83-1.15, P=0.77) and acute renal failure( RR=1.01, 95% CI: 0.90-1.14, P=0.83). Conclusion:There is no evidence that RIPC has a treatment effect on clinical outcomes(measured as all-cause mortality in hospital, no-fatal myocardial infarction, new stroke, new atrial fibrillation, and acute renal failure). More research should be designed to confirm the effect of RIPC on myocardial protection with cardiopulmonary bypass.

10.
Article in Chinese | WPRIM | ID: wpr-879521

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).@*METHODS@#With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals.@*RESULTS@#Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c.253A>G (p.Cys85Arg) variant in exon 4 of the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.@*CONCLUSION@#The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.


Subject(s)
Brain/abnormalities , China , Cleft Lip/genetics , Cleft Palate/genetics , Female , Humans , Interferon Regulatory Factors/genetics , Mutation, Missense , Pedigree , Whole Exome Sequencing
11.
Chinese Journal of Rheumatology ; (12): 597-603,F3, 2020.
Article in Chinese | WPRIM | ID: wpr-868238

ABSTRACT

Objective:To investigate the pathological characteristics of skeletal muscle and its association with anti-aminoacyl-tRNA synthetases(ARS) antibodies and clinical features in patients with anti-synthetase syndrome (ASS).Methods:Patients diagnosed as ASS at China-Japan Friendship Hospital from 2008 to 2018 were involved in this study. Immunohistochemistry staining of MHC-Ⅰ, CD3, CD4, CD8 and CD20 molecule were performed in all muscle specimen taken from these patients. According to the muscular pathological characteristics, all patients could be divided into six pathological subgroups: pathologic DM(pDM), pathologic PM (pPM), unspecified myositis(USM), necrotizing myopathies (NAM), only MHC-Ⅰexpression (MHC-Ⅰ) and normal pathology groups. Immunoblotting assay was used to detect anti-ARS antibodies. Statistical analysis was performed using Statistical Product and Service Solutions (SPSS) software. T-test, Mann-Whitney U test and Analysis of Variance (ANOVA) were used for the comparison of measurement data. Chi-square test or Fisher's test were used for categorical data. P<0.05 was considered statistically significant. Results:A total of 77 patients underwent muscle biopsy and anti-ARS antibodies test, with the average age of (50±12) years and disease course of 9(3-24) months. The prevalence of anti-Jo-1, anti-PL-7, anti-PL-12, anti-EJ and anti-OJ antibodies in these patients was 47%(36 cases), 29%(22 cases), 12%(9 cases), 13%(10 cases) and 0 respectively. Among all the ASS patients, the most common pathological type was USM(37/77, 48%), followed by pDM(14/77, 18%), the normal pathology(13/77, 17%), NAM(10/77, 13%) and MHC-Ⅰ (3/77, 4%) groups. There were no pPM subtypes in all groups. The frequency of pDM types was significantly different among the anti-ARS antibodies groups( χ2=9.075, P=0.028). The anti-EJ-positive patients had a higher frequency of pDM compared with anti-PL-7-group(40% vs 4%, χ2=6.555, P=0.024). Meanwhile, the CD20 expression in muscle tissue was observed in 30% of anti-EJ-positive patients and 4% of anti-Jo-1-positive ones. There was statistically significant difference in the positive rate of CD20 expression among anti-ARS antibodies groups ( χ2=12.837, P<0.01). Conclusion:The muscle pathological characteristics of ASS are polymorphic and relate to the anti-ARS antibodies. Performing muscle biopsy and distinguishing pathological types are helpful for the diagnosis and stratification of ASS.

12.
Article in Chinese | WPRIM | ID: wpr-867605

ABSTRACT

Objective:To analyze the epidemiological and clinical characteristics of patients with corona virus disease 2019 (COVID-2019) in Shenyang City.Methods:The epidemiological and clinical characteristics of 30 patients diagnosed with COVID-2019 admitted to Shenyang Sixth People′s Hospital from January 22 to February 8, 2020 were retrospectively analyzed. The independent t test, Mann-Whitney test and Fisher′s exact test were used for statistical analysis. Results:Among the 30 cases, 21 were imported, including 17 from Hubei Province and four from other provinces. Nine cases were local infections. There were 18 men and 12 women, aging from 21 to 72 years with the median of 43 years. Eight cases had underlying diseases including hypertension, diabetes, coronary heart disease and bronchitis. On admission, two (7%) cases were mild, 19(63%) cases were ordinary, eight (27%) cases were severe, and one (3%) case was critical. Clinical manifestations mainly included fever, with or without upper respiratory tract symptoms, normal, decreased or slightly increased white blood cell counts, mainly decreased lymphocyte counts, normal or increased C reactive protein, and normal procalcitonin. The computed tomography (CT) of the early stage of the lungs showed that multiple patchy ground glass shadows were mainly accompanied by consolidation, which often involved both lungs or multiple lobes of one lung. At the moment, the clinical treatment mainly included respiratory support, symptomatic treatment, antiviral treatment and anti-bacterial treatment. By February 15, a total of nine cases were cured and discharged, including one mild case, six ordinary cases, and two severe cases. In the comparisons between mild/ordinary patients and severe/critical patients, the fever duration in the severe/critical group (median 11.5 d) was significantly longer than that in the mild/ordinary group (median 2.0 d) ( Z=-2.292, P=0.022), and the laboratory tests indicated more cases with elevated D-dimer levels ( Z=-2.669, P=0.008) and neutrophilic/lymphocyte ratio >3.0 ( Z=-4.071, P<0.01). Conclusions:In Shenyang City, the early cases with COVID-19 infection are mainly imported cases, and expanding local infections gradually develop. Clinical manifestations are mainly characterized by fever and cough. Lung CT imagings show multiple ground glass shadows, mainly accompanied by consolidation. CT changes in the lungs should be closely monitored during the treatment, and CT findings in the lungs may change earlier than the clinical manifestations. Prolonged fever duration, elevated D-dimer level and neutrophil/lymphocyte ratio >3.0 could be used as early warning indicators for severe cases.

13.
Journal of Chinese Physician ; (12): 843-846,851, 2020.
Article in Chinese | WPRIM | ID: wpr-867334

ABSTRACT

Objective:To observe and compare the changes of pulmonary function in patients with pulmonary tuberculosis regular treatment for 3 months.Methods:From April 2018 to June 2019, 500 tuberculosis patients who received regular anti tuberculosis treatment in our hospital were selected.The pulmonary function of patients with pulmonary tuberculosis was measured before treatment and at the end of three months; the results of pulmonary ventilation function, lung volume, diffusing capacity, and the value of forced vital capacity (FVC), maximum expiratory volume in 1 second (FEV 1), maximum expiratory volume in 1 second/forced vital capacity (FEV 1/FVC), total lung volume (TLC), residual volume (RV), carbon monoxide diffusing capacity (D LCO) were compared. Results:252 patients with pulmonary tuberculosis were included. Before treatment and at the end of three months, the abnormal pulmonary function results were 204 cases (80.95%) and 193 cases (76.59%), respectively, and the difference was not statistically significant ( P>0.05). Among them, abnormal pulmonary ventilation function is the most common, especially with obstructive, followed by abnormal diffusing capacity. At the end of three months, the proportions of patients with normal pulmonary ventilation function and normal lung volume were higher than that before treatment ( P<0.05), but there was no significant difference in the proportion of normal diffusing capacity before and after treatment ( P>0.05). The values of FVC, FEV 1, TLC and D LCO at the end of three months were higher than those before treatment, and the difference was statistically significant ( t=-6.414, -6.754, -3.863, -3.311, all P<0.01). Conclusions:Most patients with pulmonary tuberculosis have abnormal pulmonary function. At the end of the three months treatment, the normal rates of the pulmonary ventilation function and lung volume as well as the values of FVC, FEV 1, TLC and D LCO in patients with pulmonary tuberculosis were significantly improved compared with those before treatment.

14.
Article in Chinese | WPRIM | ID: wpr-867016

ABSTRACT

Attention deficit hyperactivity disorder (ADHD) is a kind of mental development disorder with high prevalence. Its core symptoms are attention deficit, hyperactivity and impulse.Previous studies mainly focused on the executive function and cognitive control of ADHD. Since emotion dysregulation in ADHD results in a lot of negative consequences, such as social interaction, coping with frustration and parent-child relationship, more and more researchers believe that the lack of emotional regulation ability is likely to be an important reason for ADHD patients' inability to focus attention and hyperactive impulse behavior in recent years.At the behavioral level, ADHD patients' emotion dysregulation is mainly reflected in emotional impulsivity, emotional lability and negative emotionality.At the neurophysiological level, emotion dysregulation in ADHD patients was found to be related to heart rate variability, respiratory sinus arrhythmia, late positive component LPP and activity abnormality of resting state neural network. Some researchers have proposed the " cold" and " hot" executive function theory of ADHD, in which the " hot" regulatory circuit is associated with the processing the emotional regulation process. Future studies are needed to explore the maintaining difficulty and inducing positive emotion in ADHD, and the influence of comorbidities in ADHD. Moreover, researchers should combine neurophysiological method and family study to clarify the brain mechanism and its genetic basis underlying emotion dysregulation in ADHD patients.

15.
Chinese Journal of Hepatology ; (12): 148-152, 2020.
Article in Chinese | WPRIM | ID: wpr-811672

ABSTRACT

Objective@#To analyze the clinical characteristics of cases of novel coronavirus pneumonia and a preliminary study to explore the relationship between different clinical classification and liver damage.@*Methods@#Consecutively confirmed novel coronavirus infection cases admitted to seven designated hospitals during January 23, 2020 to February 8, 2020 were included. Clinical classification (mild, moderate, severe, and critical) was carried out according to the diagnosis and treatment program of novel coronavirus pneumonia (Trial Fifth Edition) issued by the National Health Commission. The research data were analyzed using SPSS19.0 statistical software. Quantitative data were expressed as median (interquartile range), and qualitative data were expressed as frequency and rate.@*Results@#32 confirmed cases that met the inclusion criteria were included. 28 cases were of mild or moderate type (87.50%), and four cases (12.50%) of severe or critical type. Four cases (12.5%) were combined with one underlying disease (bronchial asthma, coronary heart disease, malignant tumor, chronic kidney disease), and one case (3.13%) was simultaneously combined with high blood pressure and malignant tumor. The results of laboratory examination showed that the alanine aminotransferase (ALT), aspartate aminotransferase (AST), albumin (ALB), and total bilirubin (TBil) for entire cohort were 26.98 (16.88 ~ 46.09) U/L and 24.75 (18.71 ~ 31.79) U/L, 39.00 (36.20 ~ 44.20) g/L and 16.40 (11.34- ~ 21.15) mmol/L, respectively. ALT, AST, ALB and TBil of the mild or moderate subgroups were 22.75 (16.31- ~ 37.25) U/L, 23.63 (18.71 ~ 26.50) U/L, 39.70 (36.50 ~ 46.10) g/L, and 15.95 (11.34 ~ 20.83) mmol/L, respectively. ALT, AST, ALB and TBil of the severe or critical subgroups were 60.25 (40.88 ~ 68.90) U/L, 37.00 (20.88 ~ 64.45) U/L, 35.75 (28.68 ~ 42.00) g/L, and 20.50 (11.28 ~ 25.00) mmol/L, respectively.@*Conclusion@#The results of this multicenter retrospective study suggests that novel coronavirus pneumonia combined with liver damage is more likely to be caused by adverse drug reactions and systemic inflammation in severe patients receiving medical treatment. Therefore, liver function monitoring and evaluation should be strengthened during the treatment of such patients.

16.
Article in Chinese | WPRIM | ID: wpr-811506

ABSTRACT

Objective@#To analyze the epidemiological and clinical characteristics of patients with 2019 novel coronavirus (2019-nCoV) infection in Shenyang.@*Methods@#The epidemiological and clinical characteristics of 30 patients diagnosed with 2019-nCoV infection admitted to Shenyang sixth people's hospital on January 22, 2020 and February 8, 2020 were retrospectively analyzed.@*Results@#Among the 30 cases, 21 were imported, including 17 from Hubei Province and four from other provinces. Nine cases were local infections. There were 18 men and 12 women, aging from 21 to 72 years with the median of 43 years. Eight cases had underlying diseases including hypertension, diabetes, coronary heart disease and bronchitis. On admission, two (7%) cases were mild, 19 (63%) cases were ordinary, eight (27%) cases were severe, and one (3%) case was critical. Clinical manifestations mainly include fever, with or without upper respiratory tract symptoms, normal, decreased or slightly increased white blood cell counts, mainly decreased lymphocyte counts, normal or increased c-reactive protein, and normal procalcitonin. The computed tomography (CT) of the early stage of the lungs showed that multiple patchy ground glass shadows were mainly accompanied by consolidation, which often involved both lungs or multiple lobes of one lung. At the moment, the clinical treatment mainly included respiratory support, symptomatic treatment, antiviral treatment adn anti-bacterial treatment. By February 15, a total of nine cases were cured and discharged, including one mild case, six ordinary cases, and two severe cases. In the comparisons between mild/ordinary patients and severe/critical patients, the fever duration in the severe/critical group (median 11.5 d) was significantly longer than that in the light/normal group (median 2 d) (Z=-2.292, P=0.022), and the laboratory tests indicated elevated d-dimer levels (Z=-2.669, P=0.008) and more cases with neutrophilic/lymphocyte ratio > 3 (Z=-4.071, P<0.01).@*Conclusions@#In Shenyang, the early cases with 2019-nCoV infection are mainly imported cases, and expanding local infections gradually develop. Clinical manifestations are mainly characterized by fever and cough. Lung CT performance shows multiple ground glass shadows, mainly accompanied by consolidation. CT changes in the lungs should be closely monitored during the treatment, and CT findings in the lungs may change earlier than the clinical manifestations. Prolonged fever duration, elevated d-dimer level and neutrophil/lymphocyte ratio >3 could be used as early warning indicators for severe cases.

17.
Article in Chinese | WPRIM | ID: wpr-826559

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).@*METHODS@#All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided.@*RESULTS@#Sanger sequencing found that the proband has carried two variants of the COL7A1 gene, namely c.7289delC (p.Pro2430Glnfs*36) and c.7474C>T (p.Arg2492*), which were respectively derived from his mother and father. The same variants were not found among 100 healthy controls. By prenatal diagnosis, the fetus was found to have inherited the c.7474C>T (p.Arg2492*) variant from its father.@*CONCLUSION@#The pathogenic variants of the COL7A1 gene of the RDEB family were clarified, based on which prenatal diagnosis was provided.


Subject(s)
Child , Collagen Type VII , Genetics , Epidermolysis Bullosa Dystrophica , Genetics , Exons , Female , Genes, Recessive , Genetic Testing , Humans , Male , Mutation , Pregnancy , Prenatal Diagnosis , Sequence Analysis, DNA
18.
Article in Chinese | WPRIM | ID: wpr-781304

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*METHODS@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*RESULTS@#The proband was found to carry a c.5798+1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*CONCLUSION@#The novel c.5798+1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.


Subject(s)
Codon, Nonsense , Genetics , Genetic Variation , HEK293 Cells , Humans , Mutation , Genetics , Pedigree , Plasmids , RNA Splicing , Spectrin , Genetics , Spherocytosis, Hereditary , Genetics , Transfection
19.
Article in Chinese | WPRIM | ID: wpr-781286

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for 90 families affected with spinal muscular atrophy (SMA), and discuss the necessity for carrier screening.@*METHODS@#All families were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. Combined MLPA and allele-specific PCR (AS-PCR) was used for prenatal diagnosis of the pregnant women.@*RESULTS@#Among the 90 couples, 84 (93%) had a negative family history, 85 (94%) had given birth to an affected child before. Eighty-five husbands and 88 wives carried heterozygous deletion of exon 7 of the SMN1 gene. Two wives had homozygous deletion of exon 7 of the SMN1 gene and were affected. Prenatal diagnosis showed that 19 fetuses were SMA patients, 48 fetuses were carriers, and 23 fetuses were normal. Of note, eighteen affected fetuses were conceived by couples without a family history, which accounted for 20% of all pregnancies and 95% of all affected fetuses.@*CONCLUSION@#To screen SMA carriers using MLPA and carry out prenatal diagnosis using combined MLPA and AS-PCR can ensure accurate diagnosis, which has a significant value for the prevention of SMA affected births.

20.
Article in Chinese | WPRIM | ID: wpr-798647

ABSTRACT

Objective@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*Methods@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2c.5798+ 1G and pCAS2c.5798+ 1A plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*Results@#The proband was found to carry a c. 5798+ 1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*Conclusion@#The novel c. 5798+ 1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.

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