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ObjectiveTo analyze the trends in the disease burden of esophageal cancer attributed to smoking in China from 1990 to 2019. MethodsUsing the Joinpoint 4.9.1.0 software, based on the Global Burden of Disease Study 2019 data, we examined the mortality, Disability-Adjusted Life Years (DALY) data, and death rates of esophageal cancer attributed to smoking in China from 1990 to 2019, along with national population data. The trends in disease burden was described and the age-period-cohort model was employed to analyze the effects of age, period, and cohort on the trends in disease burden due to smoking. ResultsJoinpoint analysis indicated that the age-standardized mortality rate (ASMR) and DALY rate attributable to smoking showed an average annual percent change (AAPC) of -1.42% and -1.72%, respectively. For females, the AAPC values for ASMR and DALY rate were -3.26% and -3.70%, respectively, while for males, these were -1.28% and -1.54%, respectively. The disease burden by age attributable to smoking showed a general declining trend across all age groups in mortality and DALY rates. The disease burden from smoking, measured by age, displayed a consistent downward trend in both mortality and DALY rates across all age groups. The 40-44 age group saw the sharpest decline, with Annual Average Percent Changes (AAPC) of -3.05% for mortality and -3.04% for DALY rates. This was closely followed by the 45-49 age group, which experienced AAPC values of -2.73% and -2.72%, respectively. Analysis using the age-period-cohort model showed that the impact of age on mortality and DALY rates due to smoking initially increases with age before subsequently decreasing. The period effect revealed a general increase in the mortality rate from smoking in China, except for a dip between 2005 and 2010; otherwise, the trend was upward over time. The DALY rate demonstrated variability across different periods. The cohort effect indicated a decrease in both mortality and DALY rates due to smoking as successive birth cohorts progressed. ConclusionsOur study reveals that the disease burden of esophageal cancer attributed to smoking factors exhibits gender differences and shows an overall declining trend over time. Efforts should be intensified to enhance health education for men, particularly focusing on smoking cessation education for smokers aged 35-39, in order to improve the overall level of primary prevention of esophageal cancer.
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As a vital component of arbor forests, understory vegetation serves as an essential buffer zone for storing carbon due to its strong capacity for community regeneration. This study aimed to identify the diversity pattern and construction mechanism of Platycladus orientalis and Pinus elliottii understory vegetation based on large-scale sample surveys. The Bayesian Information Criterion value of species abundance distribution (SAD) indicated that the Zipf and Zipf-Mandelbrot models were the best-fitting models. The SAD and gambin fitting results suggested that the Pi. elliottii community had a more balanced structure, with most species being relatively abundant. The multiple regression tree model detected four and six indicator species in P. orientalis and Pi. elliottii communities, respectively. The α-diversity index increased with a rise in altitude and showed a wavy curve with latitude. Linear regression between the ß diversity and environmental and geographic distance indicated that the P. orientalis and Pi. elliottii understory communities tended to be dominated by different ecological processes. The partition of ß diversity indicated that both communities were dominated by turnover processes, which were caused by environmental classification or spatial constraints. This study helped to understand the diversity maintenance in the P. orientalis and Pi. elliottii understory vegetation communities, and will benefit for diversity restoration and conservation of pure conifer forests.
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Objective:To integrate the best evidence of non-drug intervention of urinary incontinence in elderly women and to formulate practical recommendations.Methods:In this systematic review study, using “elderly woman”,“urinary incontinence”,“bladder training”,“pelvic floor muscle training”,“enuresis”,“leakage of urine” as the key words, the 6S evidence resource pyramid model was used to search in British Medical Journal best practice, Uptodate, World Health Organization, Guidelines International Network, National Institute for Health and Care Excellence, Chinese Medical Association, Scottish Intercollegiate Guideline Network, Registered Nurses Association of Ontario, Cochrane Library, The Joanna Briggs Institute (JBI), New Zealand Guidelines Group, Polish Society of Gynecologists and Obstetricians, PubMed, Embase, Medline, Web of Science, SinoMed, China National Knowledge Infrastructure, WanFang Data, etc. The evidence retrieved included evidence-based knowledge base resources, clinical practice guidelines, expert consensus, systematic review, etc. Data were retrieved from January 1, 2017 to May 1, 2022, and collated from May 2, 2022 to May 25, 2022. Two researchers independently evaluated the quality of literature and extracted data using the AGREE Ⅱ and JBI evidence-based health care center assessment tools. The JBI evidence-based health care center′s evidence pre-rating system and evidence recommendation rating system were applied to rank the evidence; and under the guidance of the evidence structure of JBI, the strength of evidence recommendation was determined and the best evidence was extracted and summarized in combination with the study group discussion and expert opinion.Results:A total of 9 articles were retrieved, including 7 guidelines and 2 systematic reviews; and 6 guidelines were classified as Grade A and 1 as grade B; both 2 systematic reviews were rated as Grade A; 84% (27/32) of the items were evaluated as “Yes”. Evidence were summarized as 34 pieces of best evidence from 6 dimensions, including “overall recommendation, evaluation of type and degree of urinary incontinence, lifestyle change, behavioral therapy, prevention of precipitating factors, intervention in special population”; the flow chart of screening, evaluation, special symptoms, life style and behavior therapy was combed, and the practical suggestions were formed.Conclusions:The overall quality of the literature on non-drug intervention of urinary incontinence in elderly women is high, and the level of evidence is high. Early identification of urinary incontinence types and assessment of disease severity, lifestyle changes, avoidance of predisposing factors and behavioral therapy are the key to non-drug treatment of urinary incontinence in those patients.
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Immune escape mechanisms in non-small cell lung cancer (NSCLC) can disrupt every step of the anti-cancer immune response. In recent years, an increased understanding of the specific mechanisms fueling immune escape has allowed for the development of numerous immunotherapeutic treatments that have been introduced into the clinical practice. The advent of immunotherapy has dramatically changed the current treatment landscape of advanced or metastatic NSCLC because of its durable efficacy and manageable toxicity. In this review, we will first present a brief overview of recent evidence on immune escape mechanisms in NSCLC. We will then discuss the current promising immunotherapeutic strategies in advanced or metastatic NSCLC tumors.
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Humanos , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Neoplasias Pulmonares/tratamiento farmacológico , InmunoterapiaRESUMEN
OBJECTIVE@#To explore the prenatal ultrasonographic features and genetic basis for an abortus suspected for type II Cornelia de Lange syndrome (CdLS2).@*METHODS@#A fetus diagnosed with CdLS2 at the Shengjing Hospital Affiliated to China Medical University on September 3, 2019 was selected as the study subject. Clinical data of the fetus and family history was collected. Following induced labor, whole exome sequencing was carried out on the abortus. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Prenatal ultrasonography (33 weeks of pregnancy) has revealed multiple anomalies in the fetus, which included slightly widened cavity of septum pellucidum, blurred corpus callosum, slightly reduced frontal lobe volume, thin cortex, fusion of lateral ventricles, polyhydramnios, small stomach bubble, and digestive tract atresia. Whole exome sequencing has revealed a heterozygous c.2076delA (p.Lys692Asnfs*27) frameshifting variant in the SMC1A gene, which was found in neither parent and was rated as pathogenic based on the guidelines of American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The CdLS2 in this fetus may be attributed to the c.2076delA variant of the SMC1A gene. Above finding has provided a basis for genetic counseling and assessment of reproductive risk for this family.
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Embarazo , Femenino , Humanos , Proteínas de Ciclo Celular/genética , Síndrome de Cornelia de Lange/diagnóstico , Fenotipo , Ultrasonografía Prenatal , Feto/diagnóstico por imagen , MutaciónRESUMEN
Huangjiu, a traditional Chinese wine with low alcoholic strength, can easily develop rancidification upon microbial contamination in the long-term storage process. In order to analyze the changes in key indexes in the rancidification process during the storage of Huangjiu, a laboratory simulation of microbial contamination changes was carried out. Changes in microbiological indexes, physicochemical indexes, and volatile flavor compounds in the rancidification process of Huangjiu can be divided into two stages. Test results demonstrated that within the early stage of the rancidification process, multiplication of contaminating microorganisms was in the adaptation phase with a slow OD600 growth value of Huangjiu, while physicochemical indexes such as the pH and amino acid nitrogen content changed relatively slowly. The contents of aldehyde compounds in the volatile flavor components of Huangjiu declined quickly to be lower than 1.0 mg/L, while the conductivity index increased by 6%. In the late stage, the OD600 value of Huangjiu increased rapidly and microorganism multiplication entered the logarithmic phase. Furthermore, changes in the physicochemical indexes are accelerated. Specifically, the histamine content increased by 457% and the content of aldehydes remains lower than 1.0 mg/L. The conductivity index continued to rise by 25% in this stage. This indicates that the two rancidification stages have different influences on the quality of Huangjiu. The conductivity value can be used as a staged representative index throughout the rancidification of Huangjiu to distinguish between different batches and evaluate the degree of microbial contamination. Additionally, the conductivity index can be used for long-term online monitoring of large tank storage of Huangjiu.
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Congenital pulmonary airway malformation-volume ratio (CVR) greater than 1.6 or 2.0 cm2 was considered to be helpful in predicting fetal hydrops and could serve as an indicator for steroid application, forecasting respiratory symptoms, and the timing of surgery after birth. However, the optimal CVR threshold remains controversial. This review focuses on the value of CVR in fetal prognosis, steroid administration, and the prediction of postnatal respiratory symptoms and surgical timing in fetuses with congenital pulmonary airway malformation, aiming to guide the perinatal management.
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OBJECTIVE@#To identify the pathogenic variant for a husband with osteogenesis imperfecta and provide preimplantation genetic testing (PGT) for the couple.@*METHODS@#High-throughput sequencing and Sanger sequencing were carried out to identify the pathologic variant in the husband patients. PGT of embryos was performed through direct detection of the mutation site. Meanwhile, chromosome aneuploidy of the blastocysts was screened. Following transplantation, cytogenetic and genetic testing of fetal amniotic fluid sample was carried out during mid-pregnancy. Chromosome copy number variant (CNV) was detected at multiple sites of the placenta after delivery.@*RESULTS@#The husband was found to harbor heterozygous c.544-2A>G variant of the COL1A1 gene. The same variant was not detected in either of his parents. PGT revealed that out of three embryos of the couple, one was wild-type for the c.544-2A site but mosaicism for duplication of 16p13.3.11.2. The other two embryos were both heterozygous for the c.544-2A>G variant. Following adequate genetic counseling, the wild-type embryo was transplanted. Amniotic fluid testing confirmed that the fetus had normal chromosomes and did not carry the c.544-2A>G variant. The copy number of chromosomes at different parts of placenta was normal after birth.@*CONCLUSION@#For couples affected with monogenic disorders, e.g., osteogenesis imperfecta, direct detection of the mutation site may be used for PGT after identifying the pathogenic variant. After adequate genetic counseling, prenatal diagnosis must be carried out to ensure the result.
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Femenino , Humanos , Embarazo , Aneuploidia , China , Pruebas Genéticas , Osteogénesis Imperfecta/genética , Diagnóstico PreimplantaciónRESUMEN
OBJECTIVE@#To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).@*METHODS@#High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.@*RESULTS@#High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.@*CONCLUSION@#The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
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Humanos , Encefalopatías Metabólicas Innatas/genética , Creatina , Pruebas Genéticas , Heterocigoto , Discapacidad Intelectual Ligada al Cromosoma X , MutaciónRESUMEN
Congenital cardiovascular disease is a kind of congenital disease caused by the interaction of multiple factors such as heredity, environment and pregnancy infection, but its exact etiology is still unclear.With the deepening of research, more and more evidences show that genetic factors play a significant role in its pathogenesis.Many genes are involved in the development of heart embryos, and the mutation of these genes often leads to congenital cardiovascular diseases.Homology modeling is a technique to predict the structural and functional changes of proteins caused by gene mutation through computer algorithm, and its application in the pathogenesis of congenital diseases has become a future trend.The purpose of this paper is to review homology modeling and its application in pathogenesis of congenital cardiovascular diseases briefly.
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Objective:To evaluate the standardized residency training of obstetrics and gynaecology in Shengjing Hospital of China Medical University with Milestones evaluation system of obstetrics and gynecology, and to evaluate the feedback effect of the system.Methods:An improved Milestones evaluation form was developed to evaluate the self-evaluation and clinical tutor's scores, collect the results and make a statistical analysis of the 1-3 years standardized training residents of the Shengjing Hospital of China Medical University in September 2019. GraphPad Prism 8 software was used for data collection and statistical analysis, and Box-Plots software was used for drawing analysist. Descriptive statistics method was used for the general situation of the research objects. After the students' self-evaluation and tutor's scores passed the normal distribution and variance homogeneity test, paired t test was performed, and the scores of residents from different sources were analyzed by variance analysis. Results:A total of 164 residents of obstetrics and gynaecology were evaluated, and there were significant differences between self-evaluation and teacher's evaluation in medical knowledge, learning ability and system work ( P<0.05). The competency scores of the first year residents ranged from 3.003 to 4.556, and at the end of the course they increased to 4.921 to 5.974, showing statistically significant differences in each item compared with the first year ( P<0.001). After three years of training, residents from different sources showed significant improvement ( P<0.001). Conclusion:The Milestones evaluation system of the obstetrics and gynecology can be used for the training assessment and feedback of the residents in obstetrics and gynecology specialty. The self-assessment of residents helps to understand the level of self-assessment, and the teacher's evaluation helps to correct the bias generated by self-assessment. The systematic and staged Milestones evaluation system can instruct the clinical tutors to instruct the residents in accordance with their aptitude, and give feedback on the training effect of the residency training base.
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【Objective】 To investigate the unqualified rate of anti-HIV detection of blood screening laboratories in Beijing-Tianjin-Hebei region, and explore the differences in anti-HIV detection ability and influencing factors in each laboratory. 【Methods】 Through filling questionnaires via e-mail, the anti-HIV ELISA unqualified rate and confirmed (WB) positive results (data) from January to December 2018 from 15 blood screening laboratories in Beijing-Tianjin-Hebei region were collected. Our laboratory was responsible for data collection and confirmation, and statistics software SPSS22.0 was used for analysis. 【Results】 1) There was a statistically significant difference among the unqualified rate of anti-HIV ELISA(6.77‱~35.71‱) and confirmed positive rate(0.60‱~3.56‱) in 15 blood screening laboratories in Beijing-Tianjin-Hebei region (P<0.05); 2) There were significant differencse among the ELISA unqualified rate and the confirmed positive rate of 8 reagents for anti-HIV detection(P<0.01), and the sensitivity of the 4th generation detection reagent and the imported reagent was higher than that of the 3rd generation reagent and the domestic reagent. The anti-HIV ELISA unqualified rate of R5 was the highest (19.08‱). 3)There were significant differences in the anti-HIV ELISA unqualified rate of R1, R2, R3, R5 and R7 reagents among different blood station laboratories(P<0.05), and there were no significant differences in the anti-HIV ELISA unqualified rate of R4, R6 and R8 reagents among different blood station laboratories(P>0.05). 4)The unqualified rate of anti-HIV ELISA of laboratories using different regents showed significant differences(P<0.05), except H, J, M. The unqualified rate of imported reagent was significantly higher than that of domestic reagents of laboratories using imported and domestic reagents combinations(P<0.05), except O. 62.5% (5/8) laboratories using domestic 3rd and 4th generation reagent combination showed significant differences in the unqualified rates among different reagents(P<0.05); 5) The positive rate of single-reagent(62.02%~95.45%)in 15 blood screening laboratories showed significant difference(P<0.001), and A was the lowest (62.02%). 【Conclusion】 The anti-HIV detection ability among 15 blood screening laboratories in Beijing-Tianjin-Hebei region is quite different. The application of different reagents is the main factor for the difference, and other factors such as personnel, instruments and test strategies also has a great impact on the detection of anti-HIV. It is still necessary to promote the process of homogenization of blood testing quality among blood screening laboratories in Beijing-Tianjin-Hebei region.
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OBJECTIVE@#To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).@*METHODS@#History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing.@*RESULTS@#Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent.@*CONCLUSION@#The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.
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Femenino , Humanos , Masculino , Embarazo , Proteínas de Ciclo Celular/genética , Análisis Mutacional de ADN , Síndrome de Cornelia de Lange/patología , Feto , Mutación , Fenotipo , Secuenciación del ExomaRESUMEN
OBJECTIVE@#To apply nanopore third-generation sequencing for the detection of chromosomal aneuploidy samples, and explore its performance and application prospects.@*METHODS@#DNA extracted from two human cell lines with X chromosome monosomy and 22.5 Mb deletion in 7q11.23-q21.3 region was sequenced with a MinION sequencer, and the results were analyzed.@*RESULTS@#Respectively, 555 872 and 2 679 882 reads were obtained from the two samples within 24 hours, with genome coverage being 53.75% and 88.63%. With a sequencing depth of 0.81× and 2.40× , respectively, the abnormal chromosomal regions could be detected by comparative analysis using Minimap2.@*CONCLUSION@#With low-depth whole genome sequencing, the use of nanopore third-generation sequencing is expected to complete the detection and analysis of chromosomal aneuploidy samples within 24 hours, but its further application and promotion needs to overcome the cost constraints.
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Humanos , Aneuploidia , Cromosomas , Secuenciación de Nucleótidos de Alto Rendimiento , Análisis de Secuencia de ADN , TecnologíaRESUMEN
TBX20 gene, a member of the T-box gene family, plays an important role during heart development and is required for maintaining adult heart function.TBX20 can act as both transcriptional activator and transcriptional suppressor during the development of the heart, and shows complex spatiotemporal regulation.TBX20 is an important candidate transcription factor for the pathogenesis of congenital heart disease(CHD), and its mutation or expression change can lead to the occurrence of CHD.In this paper, the latest research progress of TBX20 gene in the field of heart development is reviewed from the relationship between TBX20 and CHD, the signaling pathway involved in heart development and its interactions with other cardiac transcription factors.
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OBJECTIVE@#To explore the genetic etiology of a fetus with autosomal recessive polycystic kidney disease (ARPKD).@*METHODS@#Prenatal ultrasonography has revealed oligohydramnios and abnormal structure of fetal kidneys. After careful counseling, the couple opted induced abortion. With informed consent, genomic DNA was extracted from the muscle sample of the abortus and peripheral blood samples of the couple. High throughput whole exome sequencing was carried out to detect potential variants in relation with the disease. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed increased size of fetal kidneys, with multiple hyperechos from the right kidney, and multiple hyperechos with anechoic masses within the left kidney. DNA sequencing revealed that the fetus has carried heterozygous variants of the PKHD1 gene, including c.7994T>C inherited from its father, and two heterozygous variants of the PKHD1 gene c.5681G>A from its mother.@*CONCLUSION@#The compound heterozygous c.7994T>C and c.5681G>A variants of the PKHD1 gene probably underlay the pathogenesis of ARPKD in this fetus. Above results can provide guidance for subsequent pregnancies of the couple.
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Femenino , Humanos , Embarazo , Feto , Pruebas Genéticas , Mutación , Riñón Poliquístico Autosómico Recesivo/genética , Receptores de Superficie Celular/genéticaRESUMEN
@#Objective We aimed to establish the pathogenic gene loci on 2p11.1-q12.2 and 3q26.32-3q28 in this Familial cortical myoclonic tremor with epilepsy(FCMTE) pedigree. Methods After obtaining informed consent,peripheral blood samples were obtained from 7 FCMTE patients and 13 control individuals,we amplified polymerase chain reaction (PCR). Then STRs on chromosomal segments 2p11.1-q12.2 and 3q26.32-3q28 were chosen at genetic distances appropriate for conducting linkage analysis. Results Negative signal were all obtained for 2p11.1-q12.2 and 3q26.32-3q28 (LOD scores Less than -2 for the STRs,respectively;θ=0.0),excluding involvement of these regions in the FCMTE pedigree analyzed. Conclusion STR linkage analysis of 2p11.1-q12.2 and 3q26.32-3q28 didn’t support linkage to these regions,indicating that the pathogenic gene in the pedigree we studied is not in these chromosome segments.
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@#Objective To analyze clinical features of nerve injury caused bythe abuse of nitrous oxide.Methods We retrospectively analyzed the clinical data of eight patients with nitrous oxide poisoning and summarized their clinical features.Results Eight patients with nitrous oxide poisoning were all young and middle-aged with a history of exposure to nitrous oxide.Peripheral nervous system was impaired in eight patients,central nervous system was impaired in five patients,autonomic nerve was impaired in two patients,and two patient had neuropsychiatric symptoms.Vitamin B12 deficiency and homocysteine elevation were detected in eight patients.High doses of vitamin B12,methylcobalamin or adenosine cobalamin were effective.Conclusion Long-term consumption of N2O can lead to megaloblastic anemia,nervous system injury and even fatal.
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@#Objective We examined mutations of Catenin Delta 2 gene(CTNND2),as the candidate gene in a Familial cortical myoclonic tremor with epilepsy(FCMTE) family. Methods Using PCR(polymerase chain reaction,PCR) and PCR product sequencing method,we detected mutations in CTNND2 gene for members of the sick including the proband. Results In seven patients of the family,CTNND2 gene mutation was analyzed by direct sequencing. No mutation was found in CTNND2 gene. Conclusion CTNND2 mutations in the familial cortical myoclonic tremor with epilepsy family has not been discovered.
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Objective:To study the effect of the psychological counseling on the delivery mode of single birth elderly primiparas with anxiety and depression, and to seek a new and effective intervention way to improve the vaginal delivery rate.Methods:A preliminary screening was carried out for 486 single birth elderly primiparas received in the birth cohort research center of China Medical University from April 2018 to September 2019. Among them, 274 cases had mild, moderate or severe anxiety and depression. They were randomly divided into the observation group and the control group (n=137). The control group was given routine nursing measures and simple psychological education and the intervention group was given extra psychological counseling. Psychological counseling adopted the mode of combination of online and offline. The degree of anxiety and depression and the delivery mode were compared between two groups.Results:Before intervention, the degree of anxiety and depression between the observation group and the control group showed no significant difference. After intervention, the degree of anxiety and depression in the observation group was lighter than that of the control group ( χ2 value was 12.782, 6.647, P<0.05). The proportion of cesarean section, vaginal delivery, forceps delivery accounted for 32.1% (44/137), 67.2%(92/137), 0.7%(1/137) in the observation group, and 45.3% (62/137), 54.7%(75/137), 0 in the control group. The difference between the two groups showed statistical significance ( χ2 value was 5.787, P<0.05). Conclusion:The psychological counseling for the single birth elderly primiparas with anxiety and depression can effectively improve the psychological situation and increase the vaginal delivery rate.