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1.
Zhonghua Zhong Liu Za Zhi ; 46(4): 326-334, 2024 Apr 23.
Article Zh | MEDLINE | ID: mdl-38644268

Objective: To investigate the endoscopic combined serological diagnosis strategy for G1 and G2 gastric neuroendocrine neoplasms (G-NENs), and to evaluate the safety, short-term, and long-term efficacy of two endoscopic treatment procedures: endoscopic mucosal resection (EMR) and endoscopic submucosal dissection (ESD). Methods: This study retrospectively analyzed the clinical data of 100 consecutive patients with G-NENs who were hospitalized at the Cancer Hospital of the Chinese Academy of Medical Sciences from January 2011 to October 2023. These patients underwent endoscopic treatment, and propensity score matching (PSM) was used to compare clinicopathological characteristics, as well as short-term and long-term efficacy of lesions in the EMR group and ESD group before and after treatment. Results: Among the 100 patients with G-NENs, the median age was 54 years old. Before surgery, 29 cases underwent endoscopic combined serological examination, and 24 of them (82.2%) had abnormally elevated plasma chromogranin A. The combined diagnostic strategy for autoimmune atrophic gastritis (AIG) achieved a diagnostic accuracy of 100%(22/22). A total of 235 G-NEN lesions were included, with 84 in the ESD group and 151 in the EMR group. The median size of the lesions in the ESD group (5.0 mm) was significantly larger than that in the EMR group (2.0 mm, P<0.001). Additionally, the ESD group had significantly more lesions with pathological grade G2[23.8%(20/84) vs. 1.3%(2/151), P<0.001], infiltration depth reaching the submucosal layer [78.6%(66/84) vs. 51.0%(77/151), P<0.001], and more T2 stage compared to the EMR group[15.5%(13/84) vs. 0.7%(1/151), P<0.001]. After PSM, 49 pairs of lesions were successfully matched between the two groups. Following PSM, there were no significant differences in the en bloc resection rate [100.0%(49/49) vs. 100.0%(49/49)], complete resection rate [93.9%(46/49) vs. 100.0%(49/49)], and complication rate [0(0/49) vs. 4.1%(2/49)] between the two groups. During the follow-up period, no recurrence or distant metastasis was observed in any of the lesions in both groups. Conclusions: The combination of endoscopy and serology diagnostic strategy has the potential to enhance the accuracy of diagnosing G1 and G2 stage G-NENs and their background mucosa. Endoscopic resection surgery (EMR, ESD) is a proven and safe treatment approach for G1 and G2 stage G-NENs.


Chromogranin A , Endoscopic Mucosal Resection , Neuroendocrine Tumors , Stomach Neoplasms , Humans , Stomach Neoplasms/surgery , Stomach Neoplasms/diagnosis , Stomach Neoplasms/pathology , Stomach Neoplasms/blood , Retrospective Studies , Middle Aged , Endoscopic Mucosal Resection/methods , Neuroendocrine Tumors/surgery , Neuroendocrine Tumors/diagnosis , Neuroendocrine Tumors/blood , Chromogranin A/blood , Gastritis, Atrophic/diagnosis , Gastroscopy/methods , Propensity Score , Gastric Mucosa/surgery , Gastric Mucosa/pathology , Treatment Outcome , Male , Female , Gastrins/blood
2.
Zhonghua Yan Ke Za Zhi ; 59(12): 1058-1064, 2023 Dec 11.
Article Zh | MEDLINE | ID: mdl-38061908

Biallelic pathogenic variants in the USH2A gene result in Usher syndrome type Ⅱ and non-syndromic retinitis pigmentosa, both of which entail the progressive loss of photoreceptors leading to blindness. The cDNA of the USH2A gene is extensive, consisting of 15 606 base pairs, rendering it impractical for delivery via adeno-associated virus vectors for gene replacement therapy. Notably, exon 13 has emerged as a focal point for therapeutic intervention, given its predilection for harboring the most pathogenic variants within USH2A. Recent intervention studies targeting USH2A exon 13 through the utilization of antisense oligonucleotides, genome editing, and RNA editing approaches have exhibited promising therapeutic potential. This paper provides a comprehensive overview of the molecular mechanisms, outcome data, and the challenges associated with the application of these interventions in this domain.


Retinitis Pigmentosa , Usher Syndromes , Humans , Usher Syndromes/genetics , Usher Syndromes/therapy , Retinitis Pigmentosa/genetics , Retinitis Pigmentosa/therapy , Exons , Genetic Therapy , Extracellular Matrix Proteins/genetics , Mutation
3.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(4): 592-597, 2023 Apr 10.
Article Zh | MEDLINE | ID: mdl-37147831

Objective: This study aimed to investigate the epidemiological characteristics of cardio-metabolic risk factors among children and adolescents aged 7-17 years in (Hebei, Zhejiang, Shaanxi, Hunan) 4 provinces of China and the influence of demographic and economic characteristics on them. Methods: A total of 1 747 children and adolescents aged 7-17 from a Community-based Cohort Study on Nervous System Disease in 2018 were selected. High waist circumference, central obesity, elevated TG, elevated TC, elevated LDL-C, decreased HDL-C, elevated blood pressure, elevated blood glucose, and clustering of risk factors was analyzed. χ2 test was used for univariate analysis, multivariate logistic regression was used to analyze the correlation between demographic and economic factors and risk factors, and the Cochran-Armitage trend test was used for trend analysis. Results: The detection rates of high waist circumference, decreased HDL-C, elevated blood pressure, elevated TG, elevated blood glucose, central obesity, elevated TC, and elevated LDL-C were 29.08%, 15.28%, 13.17%, 13.05%, 11.79%, 7.33%, 6.53%, and 5.15%, respectively. The rate of clustering of risk factors was 18.37%. Multivariate logistic regression analysis showed that the risk of high waist circumference in girls was higher than that in boys (OR=1.67, 95%CI: 1.26-2.22), and the risk of elevated blood glucose and clustering of risk factors was lower than that in boys (OR=0.69, 95%CI: 0.49-0.99; OR=0.72, 95%CI: 0.53-0.99). The risk of high waist circumference, decreased HDL-C, and clustering of risk factors in 13-17 years old group was higher than that in the 7-year-olds group (OR=2.24, 95%CI: 1.65-3.04; OR=1.59, 95%CI: 1.20-2.11; OR=1.75, 95%CI: 1.26-2.44), but the risk of central obesity was lower (OR=0.54, 95%CI: 0.37-0.78). The risk of elevated TC, elevated TG, and decreased HDL-C in children and adolescents in southern was higher than that in northern parts of China (OR=1.88, 95%CI: 1.25-2.83; OR=1.61, 95%CI: 1.17-2.22; OR=1.55, 95%CI: 1.19-2.04), but the risk of high waist circumference and central obesity was lower than that in northern China (OR=0.57, 95%CI: 0.43-0.75; OR=0.62, 95%CI: 0.42-0.90). The risk of decreased HDL-C in rural children and adolescents was higher than in urban children and adolescents (OR=1.36, 95%CI: 1.02-1.83). The risk of multiple risk factors increased with the increase in average monthly household income per capita and BMI level. Conclusions: High waist circumference, decreased HDL-C and elevated blood pressure were prominent cardio-metabolic risk factors among children and adolescents aged 7-17 years in 4 provinces of China in 2018. The region, average monthly household income per capita, and BMI were the main influencing factors of cardio-metabolic risk factors.


Hypertension , Obesity, Abdominal , Male , Female , Humans , Child , Adolescent , Obesity, Abdominal/epidemiology , Cholesterol, LDL , Blood Glucose , Cohort Studies , Body Mass Index , Risk Factors , Obesity , China/epidemiology , Waist Circumference
4.
Zhonghua Xue Ye Xue Za Zhi ; 43(6): 456-462, 2022 Jun 14.
Article Zh | MEDLINE | ID: mdl-35968587

Objective: To explore the clinical features and survival of newly diagnosed follicular lymphoma (FL) patients with diffuse large B-cell lymphoma (DLBCL) component. Methods: 1845 newly diagnosed FL patients aged ≥ 18 years with grades 1-3a in 11 medical centers in China from 2000 to 2020 were included, and patients with DLBCL component were screened. The clinical data and survival data of the patients were retrospectively analyzed, and the prognostic factors were screened by univariate and multivariate analysis. Results: 146 patients (7.9% ) with newly diagnosed FL had DLBCL component. The median age was 56 (25-83) years, 79 males (54.1% ) . The pathology of 127 patients showed the proportion of DLBCL component. Patients were divided into two groups according to whether the proportion of DLBCL component was ≥ 50% . The study found that patients with DLBCL component ≥ 50% had higher grade 3 ratio (94.3% vs 91.9% , P=0.010) , Ki-67 index ≥ 70% ratio (58.5% vs 32.9% , P=0.013) and PET-CT SUVmax ≥ 13 ratio (72.4% vs 46.3% , P=0.030) than patients with DLBCL component<50% . All patients received CHOP or CHOP like ± rituximab chemotherapy. The overall response rate (ORR) was 88.2% , and the complete response (CR) rate was 76.4% . In the groups with different proportions of DLBCL component, there was no significant difference in the remission rate after induction treatment and the incidence of disease progression within 2 years after initiation of treatment (POD24) (P<0.05) . The overall estimated 5-year progression free survival (PFS) rate was 58.9% , and the 5-year overall survival (OS) rate was 90.4% . The 5-year OS rate of POD24 patients was lower than that of non POD24 patients (70.3% vs 98.5% , P<0.001) . Compared with non maintenance treatment of rituximab, maintenance treatment of rituximab could not benefit the 5-year PFS rate (57.7% vs 58.8% , P=0.543) , and the 5-year OS rate had a benefit trend, but the difference was not statistically significant (100% vs 87.8% , P=0.082) . Multivariate analysis showed that failure to reach CR after induction treatment was an independent risk factor for PFS (P=0.006) , while LDH higher than normal was an independent risk factor for OS (P=0.031) . Conclusion: FL patients with DLBCL component ≥50% have more invasive clinical and pathological features. CHOP/CHOP like ± rituximab regimen can improve the clinical efficacy of patients. Rituximab maintenance therapy can not benefit the PFS and OS of patients. Failure to reach CR after induction therapy was the independent unfavorable factor for PFS.


Lymphoma, Follicular , Lymphoma, Large B-Cell, Diffuse , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Humans , Lymphoma, Follicular/diagnosis , Lymphoma, Follicular/drug therapy , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/drug therapy , Male , Middle Aged , Positron Emission Tomography Computed Tomography , Retrospective Studies , Rituximab/therapeutic use
5.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(3): 394-399, 2022 Jun 18.
Article Zh | MEDLINE | ID: mdl-35701114

OBJECTIVE: To explore whether WNT signaling pathway genes were associated with non-syndromic oral clefts (NSOC) based on haplotypes analyses among 1 008 Chinese NSOC case-parent trios. METHODS: The genome-wide association study (GWAS) data of 806 Chinese non-syndromic cleft lip with or without cleft palate (NSCL/P) trios and 202 Chinese non-syndromic cleft palate (NSCP) case-parent trios were drawn from the International Consortium to Identify Genes and Interactions Controlling Oral Clefts (ICOCs) study GWAS data set, whose Chinese study population were recruited from four provinces in China, namely Taiwan, Shandong, Hubei, and Sichuan provinces. The process of DNA genotyping was conducted by the Center for Inherited Disease Research in the Johns Hopkins University, using Illumina Human610-Quad v.1_B Bead Chip. The method of sliding windows was used to determine the haplotypes for analyses, including 2 SNPs haplotypes and 3 SNPs haplotypes. Haplotypes with a frequency lower than 1% were excluded for further analyses. To further assess the association between haplotypes and NSOC risks, and the transmission disequilibrium test (TDT) was performed. The Bonferroni method was adopted to correct multiple tests in the study, with which the threshold of statistical significance level was set as P < 0.05 divided by the number of tests, e.g P < 3.47×10-4 in the current stu-dy. All the statistical analyses were performed by using plink (v1.07). RESULTS: After quality control, a total of 144 single nucleotide polymorphisms (SNPs) mapped in seven genes in WNT signaling pathway were included for the analyses among the 806 Chinese NSCL/P trios and 202 Chinese NSCP trios. A total of 1 042 haplotypes with frequency higher than 1% were included for NSCL/P analyses and another 1 057 haplotypes with frequency higher than 1% were included for NSCP analyses. Results from the TDT analyses showed that a total of 69 haplotypes were nominally associated with the NSCL/P risk among Chinese (P < 0.05). Another 34 haplotypes showed nominal significant association with the NSCP risk among Chinese (P < 0.05). However, none of these haplotypes reached pre-defined statistical significance level after Bonferroni correction (P>3.47×10-4). CONCLUSION: This study failed to observe any statistically significant associations between haplotypes of seven WNT signaling pathway genes and the risk of NSOC among Chinese. Further studies are warranted to replicate the findings here.


Cleft Lip , Cleft Palate , Cleft Lip/genetics , Cleft Palate/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Genotype , Haplotypes , Humans , Polymorphism, Single Nucleotide , Wnt Signaling Pathway/genetics
7.
Article Zh | MEDLINE | ID: mdl-35325936

Objective: To explore the effect of vestibular rehabilitation and to identify factors that can affect rehabilitation outcomes. Methods: From December 2018 to October 2020, patients who underwent vestibular rehabilitation in the Eye, Ear, Nose and Throat Hospital of Fudan University were prospectively followed up. A battery of vestibular function examinations and psychological status evaluations were applied before and after rehabilitation initiation. The main outcomes were vertigo/dizziness and unsteadiness, measured by visual analogue scale (VAS); Secondary outcomes were daily activities and participation, assessed by vestibular activities and participation measure (VAP). Paired t-test was used to compare the effects before and after rehabilitation. Binary logistic regressions were applied to analyze the influencing factors of rehabilitation outcomes. Results: A total sample of 171 patients was followed up regularly with a median time of 11 months. Of the 171 patients evaluated, 72 were males and 99 were females; age ranged from 10 to 89 years old with a median age of 55 years old. At 6-month follow-up, the difference of VAS score of vertigo/dizziness and unsteadiness pre-post rehabilitation was 1.79±1.80 and 1.56±1.76, respectively; The difference of activity and participation domain of VAP score was 2.51±13 and 1.27±3.75, respectively. All differences pre-post rehabilitation exhibited statistically significant with P values<0.01. Regression analysis demonstrated that the length of symptom onset was a significant predictor of poor balance recovery (OR=6.52; 95%CI:2.10, 20.27). Visual dependence (OR=5.44; 95%CI: 1.38, 21.47) and suspectable anxiety (OR=6.45; 95%CI: 1.49, 28.30) were identified as risk factors for poor recovery of vertigo/dizziness. Conclusions: Vestibular rehabilitation effectively reduces dizziness, promotes balance, and improves the function of daily activities. Time from the onset, visual dependence and suspectable anxiety are the main factors hindering a desirable rehabilitation outcome.


Dizziness , Vestibule, Labyrinth , Adolescent , Adult , Aged , Aged, 80 and over , Anxiety , Child , Female , Humans , Male , Middle Aged , Treatment Outcome , Vertigo , Young Adult
8.
9.
J Nutr Health Aging ; 26(3): 259-265, 2022.
Article En | MEDLINE | ID: mdl-35297469

BACKGROUND: The association between strength, assistance with walking, rise from a chair, climb stairs and falls (SARC-F), strength, assistance with walking, rise from a chair, climb stairs, falls and calf circumference (SARC-CalF), Ishii score chart, the short version of mini sarcopenia risk assessment (MSRA-5), the full version of mini sarcopenia risk assessment (MSRA-7) and clinical outcomes in patients with gastric cancer were unclear. We aimed to investigate the predictive values of the above five sarcopenia screening tools on clinical outcomes following surgery in patients with gastric cancer. METHODS: The clinical data of consecutive patients who would undergo gastrectomy from May 2020 to October 2020 at the First Affiliated Hospital of Nanjing Medical University were prospectively collected. On the first admission day, patients' characteristics, Nutrition risk screening 2002 (NRS 2002), the above five sarcopenia screening tools and anthropometric measurements were preoperatively collected. Within 24 hours after discharge, operation information, tumor-node-metastasis (TNM) stage and clinical outcomes in hospital (postoperative complications, hospitalization expenditures and postoperative hospital stay) were collected. Three months after discharge, clinical outcomes out of hospital (hospital readmissions and mortality) were collected. Multivariate analyses were conducted to identify the independent predictors for clinical outcomes. RESULTS: A total of 263 patients were finally included in the study, with the average age being 62.44 years. The prevalence of sarcopenia risk ranged from 3.42% to 73.76%. For the above five sarcopenia screening tools, multivariate analyses showed that sarcopenia risk indicated by SARC-CalF was an independent predictor for postoperative complications (OR=3.145 [95%CI: 0.594, 16.665], P=0.037), prolonged postoperative hospital stay (B=2.383 [95%CI: 0.377, 4.388], P=0.020), increased hospitalization expenditures (B=1.305 [95%CI: 0.402, 2.208], P=0.005) and 3-month hospital readmissions (HR=3.626 [95%CI: 1.126, 11.676], P=0.031). Sarcopenia risk indicated by Ishii score chart was an independent predictor for postoperative complications (OR=6.491 [95%CI: 1.514, 27.840], P=0.012) and hospitalization expenditures (B=0.767 [95%CI: 0.065, 1.469], P=0.032). Sarcopenia risk indicated by MSRA-7 was an independent predictor for prolonged postoperative hospital stay (B=1.636 [95%CI: 0.119, 3.153], P=0.035)and increased hospitalization expenditures (B=0.831 [95%CI: 0.146, 1.516], P=0.018). CONCLUSION: Among the above five sarcopenia screening tools, SARC-CalF seemed to have better predictive values on clinical outcomes. Preoperative gastric cancer patients with sarcopenia risk indicated by SARC-CalF could have a higher risk of postoperative complications, prolonged postoperative hospital stay, increased hospitalization expenditures and 3-month hospital readmissions.


Sarcopenia , Stomach Neoplasms , Aged , Cross-Sectional Studies , Early Detection of Cancer/adverse effects , Geriatric Assessment , Humans , Mass Screening , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Prospective Studies , Sarcopenia/complications , Sarcopenia/diagnosis , Sarcopenia/epidemiology , Stomach Neoplasms/complications , Stomach Neoplasms/surgery , Surveys and Questionnaires
10.
Article Zh | MEDLINE | ID: mdl-35090208

Objective: Using propensity score matching method(PSM) to investigate the clinical effect of surgical plus radio(chemo)therapy and non-surgery chemoradiotherapy treatment strategies for advanced tonsillar squamous cell carcinoma. Methods: A retrospective analysis was conducted on the clinical data of 324 patients diagnosed with advanced tonsillar squamous cell carcinoma and treated in Peking Union Medical College Hospital from 2000 to 2018, confirmed by pathology and without distant metastasis. Survival analysis was performed using Kaplan-Meier estimates, the Cox proportional hazards model, and propensity score matching(PSM). Results: Of the 324 patients, 102 were treated with non-surgery chemoradiotherapy treatment strategies and 222 with surgical plus radio(chemo)therapy treatment. Cox multivariate analysis showed that the non-surgery treatment group had a favorable prognosis than the surgical treatment group, however, these outcomes were not significantly different [overall survival(OS): adjusted Hazard Ratios(aHR): 0.92, 95% confidence interval(CI): 0.60-1.42; disease-specific survival(DSS): aHR: 0.71, 95%CI: 0.43-1.20; disease-free survival(DFS): aHR: 0.82, 95%CI: 0.53-1.28]. The new patient cohort consisted of 102 subpairs after PSM. There were no significant differences between two groups(OS: aHR: 0.85, 95%CI: 0.51-1.40; DSS: aHR: 0.62, 95%CI: 0.35-1.11; DFS: aHR: 0.80, 95%CI: 0.49-1.33). Conclusion: Our findings indicate that patients with non-surgical treatment do not have significantly better survival outcomes compared to surgical treatment group, while non-surgical treatment has advantages in improving the quality of life of patients, so comprehensive treatment based on radiotherapy and chemotherapy may be recommended for advanced tonsillar squamous cell carcinoma.


Carcinoma, Squamous Cell , Tonsillar Neoplasms , Carcinoma, Squamous Cell/therapy , Chemoradiotherapy , Humans , Quality of Life , Retrospective Studies , Tonsillar Neoplasms/therapy
11.
Zhonghua Xue Ye Xue Za Zhi ; 43(10): 848-852, 2022 Oct 14.
Article Zh | MEDLINE | ID: mdl-36709199

Objective: To assess the safety and effectiveness of amphotericin B cholesteryl sulfate complex for injection in the context of empirical and diagnostic antifungal therapy for patients with hematological malignancies in addition to invasive fungal illness. Methods: This single-arm clinical study enrolled 30 patients who received empirical and diagnostic-driven antifungal therapy for hematological malignancies combined with invasive fungal disease. The primary endpoint was safety. Response rate, fever duration, and treatment completion rate were all considered secondary objectives. Results: 30 participants were eventually enrolled in the study, and the treatment completion rate was 80.0% . Most adverse events were in grades 1-2. Infusion response was the most frequent adverse event (24/30, 80% ) . The overall response rate was 80.0% (24/30) . In 24 patients (80.0% ) , the fever persisted for 1 day. Conclusions: Treatment of invasive fungal illness in conjunction with hematological malignancies showed good efficacy and safety with amphotericin B cholesteryl sulfate complex for injection.


Hematologic Neoplasms , Invasive Fungal Infections , Mycoses , Neutropenia , Humans , Amphotericin B/therapeutic use , Amphotericin B/adverse effects , Antifungal Agents/therapeutic use , Mycoses/drug therapy , Neutropenia/chemically induced , Hematologic Neoplasms/drug therapy , Hematologic Neoplasms/complications , Invasive Fungal Infections/drug therapy , Invasive Fungal Infections/chemically induced , Invasive Fungal Infections/complications
12.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(10): 1763-1768, 2021 Oct 10.
Article Zh | MEDLINE | ID: mdl-34814609

Objective: To analyze the epidemiological characteristics of a local outbreak of COVID-19 caused by SARS-CoV-2 B.1.617.2(Delta) variant in Liwan district, Guangzhou, and provide evidence for the further prevention and control of the Delta variant of COVID-19. Methods: From May 21 to June 18, 2021, the incidence data of COVID-19 caused by Delta variant were obtained from National Notifiable Disease Report System of Chinese Disease Prevention and Control Information System and Liwan District Center for Disease Control and Prevention of Guangzhou.Frequency analysis (proportions), histograms, and percentage stacked area plots were used to describe the epidemiological characteristics of the outbreaks. The incubation period and time-varying reproduction numbers (Rt) estimations were used for the further analysis. Results: By June 18, 2021, a total of 127 COVID-19 cases caused by Delta variant was reported in Liwan district. The youngest case was aged 2 years and the oldest was aged 85 years. There were 18.9% (24/127) aged <18 years, 43.3% (55/127) aged 18-59 years, and 37.8% (48/127) aged ≥60 years, the male to female ratio of the cases was 1∶1.35 (54∶73). The cases were mainly retired people (32.3%, 41/127), the jobless or unemployed (18.1%, 23/127), and students (16.5%, 21/127). The infections mainly occurred in Baihedong (70.1%, 89/127) and Zhongnan street (23.6%, 30/127) communities in the southern area of Liwan district. The median incubation period of the Delta variant infection was 6 days (range: 1-15 days). The clinical classification were mainly common type (64.6%, 82/127). The basic reproduction number (R0) was 5.1, Rt which once increased to 7.3. The transmissions mainly occurred in confined spaces, such as home (26.8%), restaurant (29.1%), neighborhood (3.9%), and market (3.1%), the household clustering was predominant. Close contacts tracing (66.1%) and community screening (33.1%) were the main ways to find the infections. Conclusion: The COVID-19 outbreak caused by Delta variant in Liwan district of Guangzhou was highly contagious, with the obvious characteristics of household clustering and high proportions of cases in adults aged 18-59 years and elderly people aged ≥60 years.


COVID-19 , SARS-CoV-2 , Adolescent , Adult , Age Distribution , Aged , Basic Reproduction Number , COVID-19/epidemiology , COVID-19/virology , China/epidemiology , Disease Outbreaks , Female , Humans , Male , Middle Aged , Sex Ratio , Young Adult
13.
Zhonghua Er Ke Za Zhi ; 59(7): 576-581, 2021 Jul 02.
Article Zh | MEDLINE | ID: mdl-34405640

Objective: To explore the clinical characteristics and risk factors of pediatric patients with Wiskott-Aldrich syndrome (WAS). Methods: This was a case-control study. Clinical data of 165 cases of pediatric patients with WAS, who visited the Department of Rheumatology, Children's Hospital of Chongqing Medical University between January 2007 and August 2020 were retrospectively analyzed and divided into death group and survival group (control group) according to the prognosis in the follow-up. Two independent samples t-test, Welch approximate t-test, Mann-Whitney U test, Pearson χ² test, Yates corrected χ² test, or Fisher exact probability test were used for comparison between groups. Risk factors were analyzed by multivariate Logistic regression analysis. Results: A total of 165 patients with Wiskott-Aldrich syndrome were enrolled in this study, including 40 cases in the death group and 125 cases in the survival group. The WAS score was (4.1±0.8) score in the death group and (3.1±1.2) score in the survival group. The age was 19 (9, 28) months in the death group and 60 (36,86) in the survival group. The episode rates of recurrent infection and (or) severe infection, intracranial hemorrhage and eczema in the death group were significantly higher than those in the survival group (95.0% (38/40) vs.32.0% (40/125),25.0% (10/40) vs. 2.4% (3/125), 90.0% (36/40) vs. 72.0% (90/125), χ²=48.253, 18.325, 5.440, all P<0.05). Infection (22 cases, 55.0%) and intracerebral hemorrhage (15 cases, 37.5%) were the main causes of death, 3 cases (7.5%) died of severe graft-versus-host disease after transplantation. The Logistic regression model indicated that repeated infection and (or) severe infection and non-use of intravenous immunoglobulin (IVIG) replacement therapy were risk factors for death in Chinese WAS patients (OR values were 8.999 and 2.860, 95% CI were (2.041-39.667) and (1.375-5.950), respectively, all P<0.05). Conclusions: Recurrent and (or) severe infection is the main risk factor of death for WAS patietns. Regular IVIG treatment can improve the survival rate of patients with WAS.


Graft vs Host Disease , Wiskott-Aldrich Syndrome , Case-Control Studies , Child , Humans , Infant , Prognosis , Retrospective Studies , Risk Factors
14.
Epidemiol Psychiatr Sci ; 30: e20, 2021 Feb 15.
Article En | MEDLINE | ID: mdl-33583474

AIMS: The coronavirus disease 2019 (COVID-19) pandemic represents an unprecedented threat to mental health. Herein, we assessed the impact of COVID-19 on subthreshold depressive symptoms and identified potential mitigating factors. METHODS: Participants were from Depression Cohort in China (ChiCTR registry number 1900022145). Adults (n = 1722) with subthreshold depressive symptoms were enrolled between March and October 2019 in a 6-month, community-based interventional study that aimed to prevent clinical depression using psychoeducation. A total of 1506 participants completed the study in Shenzhen, China: 726 participants, who completed the study between March 2019 and January 2020 (i.e. before COVID-19), comprised the 'wave 1' group; 780 participants, who were enrolled before COVID-19 and completed the 6-month endpoint assessment during COVID-19, comprised 'wave 2'. Symptoms of depression, anxiety and insomnia were assessed at baseline and endpoint (i.e. 6-month follow-up) using the Patient Health Questionnaire-9 (PHQ-9), Generalised Anxiety Disorder-7 (GAD-7) and Insomnia Severity Index (ISI), respectively. Measures of resilience and regular exercise were assessed at baseline. We compared the mental health outcomes between wave 1 and wave 2 groups. We additionally investigated how mental health outcomes changed across disparate stages of the COVID-19 pandemic in China, i.e. peak (7-13 February), post-peak (14-27 February), remission plateau (28 February-present). RESULTS: COVID-19 increased the risk for three mental outcomes: (1) depression (odds ratio [OR] = 1.30, 95% confidence interval [CI]: 1.04-1.62); (2) anxiety (OR = 1.47, 95% CI: 1.16-1.88) and (3) insomnia (OR = 1.37, 95% CI: 1.07-1.77). The highest proportion of probable depression and anxiety was observed post-peak, with 52.9% and 41.4%, respectively. Greater baseline resilience scores had a protective effect on the three main outcomes (depression: OR = 0.26, 95% CI: 0.19-0.37; anxiety: OR = 1.22, 95% CI: 0.14-0.33 and insomnia: OR = 0.18, 95% CI: 0.11-0.28). Furthermore, regular physical activity mitigated the risk for depression (OR = 0.79, 95% CI: 0.79-0.99). CONCLUSIONS: The COVID-19 pandemic exerted a highly significant and negative impact on symptoms of depression, anxiety and insomnia. Mental health outcomes fluctuated as a function of the duration of the pandemic and were alleviated to some extent with the observed decline in community-based transmission. Augmenting resiliency and regular exercise provide an opportunity to mitigate the risk for mental health symptoms during this severe public health crisis.


COVID-19/psychology , Depression/epidemiology , Mental Health/statistics & numerical data , Pandemics , SARS-CoV-2 , Adult , Anxiety/epidemiology , Anxiety/psychology , COVID-19/epidemiology , China/epidemiology , Cross-Sectional Studies , Depression/psychology , Female , Humans , Longitudinal Studies , Male , Sleep Initiation and Maintenance Disorders/epidemiology , Sleep Initiation and Maintenance Disorders/psychology
15.
J Nutr Health Aging ; 25(1): 57-63, 2021.
Article En | MEDLINE | ID: mdl-33367463

BACKGROUND: Globally, 20% to 50% older adults have been found to have thoracic hyperkyphosis. Negative effects on physical performance have been reported. However, there has been a lack of research on the prevalence and negative effects of thoracic hyperkyphosis among Chinese community-dwelling elderly. DESIGN: A cross-sectional study. SETTING: The communities in Wuhan, China. PARTICIPANTS: Three hundred and ninety-five Chinese community-dwelling older adults with thoracic hyperkyphosis. MEASURES: Chinese community-dwelling older adults aged 60 or above lived in Wuhan, China from August to December 2018 were recruited for spine and physical performance assessments. The primary outcome was the prevalence of thoracic hyperkyphosis estimated according to the angle of kyphosis which was measured by manual inclinometers. The secondary outcomes were the effects of thoracic hyperkyphosis on physical performance measured by One-leg Standing Test (OLS), Timed Up AND Go Test (TUG), Chest Expansion Test (CE), Six Minutes Walking Test (6MWT), and Farsi Version of Functional Gait Assessment (FGA). The socio-demographic and health-related information were collected by a questionnaire. RESULTS: Among 395 participants, the mean angle of kyphosis was 49.0° ± 10.5°, 75.2% of participants had the angle of kyphosis >40° (i.e., having thoracic kyperkyphosis). Compared with older adults having no thoracic hyperkyphosis, older adults with thoracic hyperkyphosis had increased risks performing impaired in OLS (OR=4.55, 95% CI 2.18-9.53, p<0.001), TUG (OR=6.08, 95% CI 2.57-14.40, p<0.001), CE (OR=3.23, 95% CI 1.63-6.38, p=0.001), 6MWT (OR=4.64, 95% CI 1.98-10.86, p<0.001), and FGA (OR=5.18, 95% CI 2.25-11.89, p<0.001) after controlling socio-demographic and health-related factors. CONCLUSION: The thoracic hyperkyphosis had high prevalence and associated with impaired performance in balance, gait, and cardiopulmonary function tests among Chinese community-dwelling older adults, which calls for the future intervention.


Independent Living/standards , Kyphosis/complications , Age Factors , Aged , China , Cross-Sectional Studies , Female , Humans , Kyphosis/epidemiology , Male , Middle Aged , Prevalence
16.
J Appl Microbiol ; 130(3): 937-947, 2021 Mar.
Article En | MEDLINE | ID: mdl-32852144

AIMS: The short-term effects of different organic manure nitrogen (N) input on soil ammonia-oxidizing archaea (AOA) and bacterial (AOB) activity and community structure at maturity stages of early rice and late rice were investigated in the present paper, in a double-cropping rice system in southern China. METHODS AND RESULTS: A field experiment was done by applying five different organic and inorganic N input treatments: (i) 100% N of chemical fertilizer (M0), (ii) 30% N of organic manure and 70% N of chemical fertilizer (M30), (iii) 50% N of organic manure and 50% N of chemical fertilizer (M50), (iv) 100% N of organic manure (M100) and (v) without N fertilizer input as control (CK). Microbial community changes were assessed using fatty acid methyl esters, and ammonia oxidizer (AO) changes were followed using quantitative PCR. The results showed that AOA were higher than that of AOB based upon amoA gene copy at maturity stages of early rice and late rice. Also, the abundance of AOB and AOA with M30, M50 and M100 treatments was significantly higher than that of CK treatment. Manure N input treatments had significant effect on AOB and AOA abundance, and a higher correlation between AOB and manure N input was observed. AOB correlated moderately with soil organic carbon content, and AOA correlated moderately with water-filled pore space. CONCLUSIONS: This study found that abundance of AOB and AOA was increased under the given organic N conditions, and the soil AOB and AOA community and diversity were changed by different short-term organic manure N input treatments. SIGNIFICANCE AND IMPACT OF THE STUDY: Soil microbial community and specific N-utilizing microbial groups were affected by organic manure N input practices.


Archaea/metabolism , Bacteria/metabolism , Manure/analysis , Microbiota , Nitrogen/metabolism , Soil Microbiology , Ammonia/metabolism , Archaea/classification , Archaea/genetics , Archaea/isolation & purification , Bacteria/classification , Bacteria/genetics , Bacteria/isolation & purification , China , Fertilizers/analysis , Nitrogen/analysis , Oryza/growth & development , Oryza/microbiology , Soil/chemistry
17.
Mol Biol (Mosk) ; 54(6): 1006-1017, 2020.
Article Ru | MEDLINE | ID: mdl-33276364

In this study, we explored the effects of treating human endometrial cancer cells with γ-synuclein-specific short hairpin RNA (shRNA) and elucidated the associated mechanisms in vitro and in vivo through the p38, extracellular signal-regulated kinase (ERK), and c-Jun N-terminal kinase (JNK) signaling pathways. Cell proliferation and migration were assessed using CCK8, Transwell, and scratch wound healing assays. Flow cytometry and laser scanning confocal microscopy were used to detect cell cycle changes. Relative levels of phosphorylated and non-phosphorylated (p) p38, ERK1/2 and JNK1/2/3 were determined in vitro and in vivo using simple western blotting assays. Cell proliferation in the experimental group decreased significantly and cells transfected with shRNA showed reduced migration rates (P < 0.05). p-p38, p-ERK1/2, and p-JNK1/2/3 levels were downregulated in the experimental group in vitro and in vivo. Tumor volumes and weights in the experimental group were significantly lower (P < 0.05). Tumor formation time in the negative control group was significantly shorter (P < 0.05). Flow cytometry showed that the number of cells in the G1 and mitotic phases increased and that in the S phase decreased after SNCG silencing (P < 0.05). Confocal microscopy showed that the percentage of cells in the mitotic phase increased after SNCG gene silencing (P < 0.05). We conclude that shRNA-mediated suppression of γ-synuclein decreased the proliferation, migration, and tumorigenicity of endometrial cancer cells via downregulation of p38, ERK, and JNK phosphorylation. High SNCG expression is closely related to the growth cycle of endometrial cancer cells.


Cell Cycle Checkpoints , Endometrial Neoplasms , Extracellular Signal-Regulated MAP Kinases , Neoplasm Proteins/genetics , RNA, Small Interfering/genetics , gamma-Synuclein/genetics , Cell Line, Tumor , Cell Proliferation/genetics , Down-Regulation , Endometrial Neoplasms/genetics , Endometrial Neoplasms/pathology , Extracellular Signal-Regulated MAP Kinases/metabolism , Female , Humans , Phosphorylation , p38 Mitogen-Activated Protein Kinases/genetics , p38 Mitogen-Activated Protein Kinases/metabolism
19.
Eur Rev Med Pharmacol Sci ; 24(18): 9497-9510, 2020 09.
Article En | MEDLINE | ID: mdl-33015792

OBJECTIVE: Orthodenticle Homeobox 1 (OTX1) has been found to be closely related to the development of several human tumours. However, the function and underlying molecular mechanisms of OTX1 in non-small cell lung cancer (NSCLC) are unclear. This research was performed to investigate the effects of downregulating OTX1 gene expression on the proliferation, migration, invasion, cell cycle and apoptosis of human NSCLC cell lines. PATIENTS AND METHODS: Cultured NCI-H292 and XWLC cells were transfected with control small interfering RNA (siNC) or experimental siRNA (siOTX1). The mRNA levels were detected using a quantitative real-time PCR (RT-qPCR) assay. A Cell Counting Kit-8 (CCK-8) and a Real Time Cell Analyzer (RTCA) were used to determine cell activity. The RTCA and transwell chambers were used to assess cell migration and invasion. In addition, cell cycle progression and apoptosis were measured using flow cytometry, and the expression levels of key signalling pathway proteins were examined by Western blotting. RESULTS: The results revealed that compared with the control group, the experimental group exhibited significantly decreased cell activity (***p<0.001), significantly decreased migration and invasion abilities (***p<0.001), and cell cycle arrest in G2/M phase (*p<0.05). However, the number of apoptotic cells was higher in the experimental group than in the control group (*p<0.05). The Western blotting results were consistent with the functional experiment results. CONCLUSIONS: Silencing the OTX1 gene suppressed the proliferation, migration and invasion of NCI-H292 and XWLC cells, impeded the cell cycle transition from G2 to M phase, and accelerated apoptosis, revealing OTX1, a regulator of NSCLC, as a potential new therapeutic target.


Adenocarcinoma of Lung/metabolism , Apoptosis , Lung Neoplasms/metabolism , Otx Transcription Factors/metabolism , Adenocarcinoma of Lung/pathology , Cell Movement , Cell Proliferation , Cells, Cultured , Humans , Lung Neoplasms/pathology , Otx Transcription Factors/genetics
20.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 809-814, 2020 Oct 18.
Article Zh | MEDLINE | ID: mdl-33047712

OBJECTIVE: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios. METHODS: We tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (P < 0.000 1). The process was done using Plink (version 1.07, http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml). TDT test was performed in Plink v1.07. A log-linear model was used to explore PoO effects using Haplin v6.2.1 as implemented in R package v3.4.2. Significance level was assessed using the Bonferroni correction. RESULTS: A total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10-4 (0.05/65). Nominal significant association with NSCL/P was found at a SNP (rs4448343 in PTCH1, P=0.023) and six haplotypes (rs10512249-rs4448343, rs1461208-rs7786445, rs10512249-rs4448343, rs16909865-rs10512249-rs4448343, rs1461208-rs7786445-rs12698335, and rs288756-rs288758-rs1151790, P < 0.05). A total of six haplotypes (rs288765-rs1233563, rs12537550-rs11765352, rs872723-rs288765-rs1233563, rs288765-rs1233563-rs288756, rs6459952-rs12537550-rs11765352, and rs12537550-rs11765352-rs6971211) showed PoO effect (P < 0.05). None of the results remained significant after the Bonferroni correction (P>7.7×10-4). CONCLUSION: Neither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.


Cleft Lip , Cleft Palate , Asian People , Cleft Lip/genetics , Cleft Palate/genetics , Genome-Wide Association Study , Hedgehog Proteins/genetics , Humans , Patched-2 Receptor , Smoothened Receptor
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