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Neurodegenerative diseases are a group of diseases caused by degeneration and dysfunction of the cells and tissues of the central nervous system, mainly including Alzheimer's disease (AD), Parkinson's disease (PD), and epilepsy. A common clinical manifestation of these diseases is cognitive decline. Neurodegenerative diseases are more common in the elderly. As population aging is aggravating, neurodegenerative diseases have aroused increasing concern since they seriously affect human health and quality of life. The pathogenesis of neurodegenerative diseases is complex, mainly related to mitochondrial dysfunction, apoptosis, neurotoxin, neurotransmitter abnormalities, oxidative stress, and inflammation. Although western drugs on the market can attenuate the symptoms of neurodegenerative diseases, they may induce severe adverse reactions and are thus not conducive to long-term use by the patients. The Chinese herbal medicine Angelicae Sinensis Radix was first recorded in the Shennong's Classic of Materia Medica (Shen Nong Ben Cao Jing). It has the functions of activating blood, tonifying blood, modulating the immune system, regulating menstruation, and relieving pain. This paper summarizes the research progress in the effects of Angelicae Sinensis Radix and the prescriptions containing this medicine on neurodegenerative diseases in recent 10 years, aiming to provide a reference for the future application and research of Angelicae Sinensis Radix in the treatment of neurodegenerative diseases.
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Objective To investigate the prognostic value of echocardiography indicators combined with se-rum recombinant human arginase 1(ARG1)and glucose-6-phosphate dehydrogenase(G6PD)in children with sepsis.Methods A total of 116 children with sepsis admitted to the hospital from May 2022 to June 2023 were enrolled in the study as the sepsis group.According to the severity of sepsis,the children were further divided into general sepsis group(52 cases),severe sepsis group(38 cases)and septic shock group(26 cases).Ac-cording to the prognosis of the children,the children with sepsis were divided into good prognosis group(84 cases)and poor prognosis group(32 cases).A total of 116 healthy children who underwent physical examina-tion in the hospital during the same period were enrolled as the control group.The left ventricular ejection fraction(LVEF),left ventricular end-diastolic diameter(LVEDD),left ventricular end-diastolic volume(LV-EDV)and early diastolic mitral flow peak velocity(E)were detected by using color Doppler ultrasound.Ser-um ARG1 and G6PD levels were detected by using enzyme-linked immunosorbent assay(ELISA).The echo-cardiographic indexes and serum ARG1 and G6PD levels were compared between the sepsis group and the con-trol group,and among sepsis children with different disease severity and different prognosis.The receiver op-erating characteristic(ROC)curve was used to analyze the predictive value of echocardiographic indexes com-bined with serum ARG1 and G6PD for poor prognosis in children with sepsis.Results Compared with the control group,the sepsis group had significant reductions in LVEF,E,and G6PD(P<0.05)and significant increases in LVEDD,LVEDV,and ARG1(P<0.05).With the aggravation of sepsis,the levels of LVEF,E,and G6PD in children with sepsis gradually decreased(P<0.05),while the levels of LVEDD,LVEDV,and ARG1 gradually increased(P<0.05).Compared with the good prognosis group,the poor prognosis group had significantly lower levels of LVEF,E,and G6PD(P<0.05)and significantly higher levels of LVEDD,LV-EDV,and ARG1(P<0.05).ROC curve analysis showed that the AUC of echocardiographic indexes com-bined with serum ARG1 and G6PD in predicting poor prognosis of children with sepsis was 0.971,and the sensitivity and specificity were 84.4%and 83.2%,respectively.Conclusion The levels of LVEF,E,and G6PD in children with sepsis significantly decreases,and the levels of LVEDD,LVEDV,and ARG1 signifi-cantly increases.Echocardiographic parameters combined with serum ARG1 and G6PD have high predictive value for poor prognosis in children with sepsis.
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2-cyano-3,12-dioxooleana-1,9 (11)-dien-28-oic acid (CDDO) is a compound synthesized by taking oleanolic acid, a natural triterpene, as a precursor or precursor, and transforming three modifiable functional groups in the molecule through a series of chemical structure modification. In order to improve its anti-tumor activity, CDDO derivatives are further synthesized. In this paper, the research results of anti-tumor effects and mechanisms of CDDO and its derivatives in recent years are summarized. It is found that CDDO and its derivatives have a wide range of anti-tumor effects, and can show significant anti-tumor effects on breast cancer, pancreatic cancer, lung cancer and ovarian cancer at low concentrations such as micromole or even nanomole, among which CDDO methyl ester compound (CDDO-Me) and CDDO imidazolidinone compound (CDDO-Im) have the most obvious effects. CDDO and its derivatives exert anti-tumor activity mainly by inducing tumor cell apoptosis, and regulating metabolic reprogramming and immune microenvironment. The involved pathways mainly include Janus protein tyrosine kinase (JAK)/ signal transduction and transcription activation protein 3(STAT3) signal pathway, nuclear factor E2-related factor 2 (NRF2) signal pathway, phosphatidylinositol 3 kinase (PI3K)/protein kinase B (also known as Akt)/mammalian rapamycin target protein (mTOR) signal pathway, Wnt/β-catenin signal pathway, nuclear factor κB signal pathway.
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Objective:To explore the influencing factors of drug application deviation in elderly diabetes mellitus patients during hospital-family transition period.Methods:A total of 278 elderly diabetes mellitus patients in Henan Provincial People's Hospital from March 2019 to March 2021 were selected as the study subjects.All patients were followed up by telephone 1 week after discharge.The drug deviation evaluation tool(MDT)was used to evaluate the drug application deviation in patients during the hospital-family transition period.They were divided into drug application deviation group and non-drug application deviation group.Sociodemographic and disease-related data and medication management data were compared between the two groups.Logistic regression analysis was used to analyze the influencing factors of drug application deviation in elderly patients with diabetes mellitus during hospital-family transition period.Results:Of the 278 elderly patients with diabetes, 162(58.27%)had at least one drug application deviation during hospital-family transition period.The family care index was lower in drug application deviation group than non-drug application deviation group( Z=6.578, P<0.001).As compared with non-drug application deviation group, drug application deviation group had the higher number of drugs at discharge, and had lower scores of Morisky Medication Adherence Scale with Eight-Item(MMAS-8), had lower scores of Summary of Diabetes Self Care Activities(SDSCA)and had lower scores of Self-efficacy for Appropriate Medication Use Scale(SEAMS), with statistically significant differences( Z=10.971, 6.077, t=5.947, 14.105, all P<0.001).Binary Logistic regression analysis and forest map showed that the more number of discharge medication was a risk factor for drug application deviation during hospital-family transition period in elderly patients with diabetes mellitus( OR=4.128, P<0.001); family care index, MMAS-8 score, SDSCA score and SEAMS score were its protective factors( OR=0.343, 0.523, 0.922, 0.568, all P<0.05). Conclusions:The incidence of drug application deviation during hospital-family transition period is higher in elderly patients with diabetes mellitus.The possible protective factors are high scores of family care index, MMAS-8, SDSCA and SEAMS, and the risk factor is large number of drugs ordered by discharged doctors.Therefore, targeted intervention measures can be implemented to reduce the occurrence of drug application deviation during hospital-family transition period.
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The application of big data and artificial intelligence technology in the medical field is key to hospital informatization. In October 2018, a tertiary hospital launched a clinical intelligent application platform. The platform took AI assistant as the carrier of intelligent application, supported the role expansion, function expansion and connotation expansion of intelligent application, and layed the foundation for the construction of clinical intelligence. As of July 2022, the platform had been embedded into the outpatient, emergency and inpatient business systems with the help of AI assistant, realizing such intelligent applications as auxiliary diagnosis, auxiliary treatment, risk warning, AI medical record quality control, research entry group and infectious disease management, as well as enriching the connotation of such specialty applications as orthopedics and ear, nose and throat. The platform satisfied the integration and integration of hospital information construction and provided convenient and effective intelligent auxiliary tools for clinical use.
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Objective:To investigate the clinical features of IgD multiple myeloma (MM) and the effect and prognosis of daratumumab-based combination therapy.Methods:The clinicopathological data of a IgD MM patient with disease progression and extramedullary infiltration treated with daratumumab in the Affiliated Hospital of Qingdao University in December 2019 were retrospectively analyzed.Results:The 74-year-old woman was diagnosed as IgD MM by bone marrow aspiration and immunofixation electrophoresis. The patient was given VD (bortezomib, dexamethasone), RD (lenalidomide, dexamethasone) and ID (ixazomib, dexamethasone) regimens. In June 2020, the patient developed multiple subcutaneous nodules, and she was assessed as progressive disease with extensive extramedullary infiltration. After treated with daratumumab-PAD (liposomal doxorubicin, bortezomib, dexamethasone) regimen, the patient's subcutaneous nodules were significantly reduced and partially disappeared, and the general condition was significantly improved. But the patient was in a cachexia state and finally died of the irregular treatment and disease progression.Conclusions:IgD MM has a low incidence and a short survival period, and there is no uniform standard treatment. The early application of daratumumab combined with proteasome inhibitors, immunomodulators, cytotoxic drugs and hematopoietic stem cell transplantation may improve the overall survival of patients.
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As a strategic emerging industry in China, 5G communication technology is building a transmission foundation for innovation and development of various industries in China, thanks to its characteristics of high bandwidth, multi-connection, security and reliability. As an important part of innovation and development, 5G technologies are finding promising applications in technology integration, mobile applications, data sharing, and Internet of things. It is designed to meet the needs of healthcare in various mobile scenarios and promote medical informationization, as well as promoting healthcare informationization and advancing lean management of medical institutions. The authors, based on the characteristics of 5G technology, analyzed its application status, and probed into 5G medical applications, its advantages and challenges in healthcare sector and the new opportunities so incurred for medical informatization, in order to promote the " digitalization" of the medical industry. These insights can provide references for the " digitized" transformation of the sector evolving towards a " smart" and " intelligent" one.
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Objective:To study the effects of T-2 toxin on expression of fibroblast growth factor 8 (FGF8) and fibroblast growth factor receptor 3 (FGFR3) in articular cartilage and subchondral marrow of rats under low selenium condition, and to explore the mechanism of deep cartilage injury and secondary complications in Kaschin-Beck disease (KBD).Methods:Twenty-four healthy male SD rats weighted 60 - 80 g were selected, they were divided into conventional feed group (selenium content of 101.5 μg/kg) and low-selenium feed group (selenium content of 1.1 μg/kg) by random number table method, with 12 rats in each group. After 30 days of feeding, the conventional feed group was further divided into control group and T-2 toxin group (100 μg·kg -1·d -1), and the low-selenium feed group was further divided into low-selenium group and low-selenium+ T-2 toxin group, with 6 rats in each group. After 30 days of feeding, the rats were sacrificed and the knee cartilage with cancellous bone was taken. Pathological changes of knee cartilage were observed by HE staining. Immunohistochemical method was used to detect the expression of FGF8 and FGFR3 in cartilage and subchondral marrow of knee joint, positive expression rates of FGF8 and FGFR3 in articular cartilage were calculated, and the integrated optical density (IOD) values of FGF8 and FGFR3 positive expression in subchondral marrow were analyzed by Image-Pro Plus 6.0 software. Results:Under light microscope, chondrocytes in low-selenium+ T-2 toxin group were sparse, and empty chondrocytes in the deep and middle layers of articular cartilage increased, and chondrocytes died and became red cell shadows. The extracellular matrix dissolved and was slightly stained in deep region, turning into necrotic and unstructurized areas. Proliferating granulation tissue was visible nearby. The positive expression rate of FGF8 in articular cartilage of rats in low-selenium+ T-2 toxin group [(88.61 ± 10.97)%] was higher than that in control, low-selenium and T-2 toxin groups [(10.35 ± 2.48)%, (19.26 ± 3.08)%, (58.89 ± 9.29)%, P < 0.05]; IOD value of FGF8 positive expression in subchondral marrow [(16.73 ± 1.72) × 10 6] was higher than that in control, low-selenium and T-2 toxin groups [(1.20 ± 0.41) × 10 6, (4.33 ± 0.97) × 10 6, (12.80 ± 1.12) × 10 6, P < 0.05]. The positive expression rate of FGFR3 in articular cartilage of rats in low-selenium+ T-2 toxin group [(89.76 ± 8.59)%] was higher than that in control, low-selenium and T-2 toxin groups [(13.18 ± 2.25)%, (21.15 ± 2.33)%, (32.55 ± 6.72)%, P < 0.05]; IOD value of FGFR3 positive expression in subchondral marrow [(16.50 ± 5.36) × 10 6] was higher than that in control, low-selenium and T-2 toxin groups [(7.58 ± 1.02) × 10 6, (10.73 ± 7.13) × 10 6, (9.83 ± 5.63) × 10 6, P < 0.05]. Conclusion:Under low selenium condition, T-2 toxin changes expression of FGF8 and FGFR3 in deep chondrocytes of articular cartilage and subchondral marrow in rats, elevated expression of FGF8 and FGFR3 may be involved in the occurrence and development of secondary changes in KBD.
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Objective@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with its genetic evidence widely explored. This study explored the potential the parent-of-origin (PoO) effect of WNT pathway on the risks of NSCL/P, using a case-parent trio design.@*Methods@#Data on the single nucleotide polymorphism (SNP) of WNT genes were selected from a genome-wide association study (GWAS). A total of 806 Chinese non-syndromic cleft lip patients, with or without cleft palate (NSCL/P) case-parent trios, were gathered from an international consortium. PoO effect of WNT pathway genes and its haplotypes were explored by log-linear models. Additional Wald tests were performed to assess: a) the heterogeneity of PoO effect between different maternal exposures, b) the interaction between PoO effect, c) maternal exposure to environmental tobacco smoke (ETS), and d) multivitamin supplementation during pregnancy. The threshold for statistical significance was adjusted as 3.47×10-4, according to Bonferroni correction.@*Results@#After quality control, a total of 144 SNPs within seven genes were included for analyses, among which 8 SNPs were of potential PoO effect (P<0.05). However, none of them achieved the statistical significance after Bonferroni correction. The haplotype rs4074668-rs12725747 (T-A) on WNT9A showed significant PoO effect, based on the haplotype test for PoO (P=2.74×10-4). In addition, no statistically significant interaction was found in further exploration of this haplotype under environmental exposures as ETS or multivitamin supplementation.@*Conclusions@#Genes in the WNT pathway may influence the NSCL/P risks through the potential PoO effect. Particularly, the haplotype rs4074668-rs12725747 (T-A) on WNT9A presented significant PoO effect on NSCL/P, statistically. From this current study, findings on WNT pathway related risks among the NSCL/P, need to be further validated by independent samples in the future.
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Objective To observe the expression level of insulin-like growth factor-1 receptor (IGF-1R) in the cartilage tissue of children with Kaschin-Beck disease (KBD) and T-2 toxin-poisoned rats under low selenium condition,and the effect of IGF-1R inhibitor on apoptosis of human normal chondrocytes (C28/I2 cells),and to investigate the role of IGF-1R in the pathogenesis of KBD.Methods The knuckles of dead children (5 cases) in the KBD areas,car accident death and congenital 6 finger deformity operation children (5 cases) in non-KBD areas in Shaanxi were collected,the expression of IGF-1R in the articular cartilage was detected by immunohistochemistry.Thirty-two male Sprague-Dawley rats with a body mass of 60-80 g were selected,according to the body mass,they were divided into the routine feed group (selenium content:101.5 μg/kg) and the low-selenium feed group (selenium content:1.1 μg/kg) by random number table method,16 rats in each group.After 30 days of feeding,the routine feed group was divided into control group and T-2 toxin group (100 ng·kg-1·d-1),the low-selenium feed group was divided into low selenium group and low selenium + T-2 toxin group,8 rats in each group,the expression of IGF-1R in the articular cartilage of the left knee joint was detected by immunohistochemistry after 30 days of feeding.C28/I2 cells were cultured in vitro and treated with T-2 toxin 0 (control),6,12,and 24 μg/L,and each concentration of T-2 toxin was accompanied with sodium selenite (+ 0.1 mg/L) for 72 h.Meanwhile,IGF-1R inhibitor with 0 (control),250,500,and 1 000 μg/L was treated on C28/I2 cells for 48 h.The expression levels of IGF-1R mRNA and protein in chondrocytes were detected by Real-time PCR and Western blotting,and the apoptosis of chondrocytes was detected by flow cytometry.Results Compared with the control group [(100.00 ± 0.00)%,(100.00 ± 0.00)%],the expression rates of IGF-1R positive cells in articular cartilage surface and middle layers [(72.71 ± 4.75)%,(36.33 ± 4.32)%] of children in KBD group were significantly reduced (t =12.852,32.650,P < 0.01).Compared with control group [(100.00 ± 0.00)%,(100.00 ± 0.00)%,(100.00 ± 0.00)%],the expression rates of IGF-1R positive cells in articular cartilage middle layer [(20.83 ± 2.69)%,(26.45 ± 2.84)%,(20.34 ± 1.82)%],deep layer [(33.55 ± 5.66)%,(48.89 ± 8.39)%,(25.51 ± 7.50)%],and the expression rates of IGF-1R positive cells [(47.50 ± 1.47)%,(28.66 ± 3.58)%,(40.52 ± 6.78)%] in the hypertrophic layer of the metaphyseal plate of rats in low selenium,T-2 toxin,and low selenium + T-2 toxin groups were significantly reduced (P < 0.01).C28/I2 cells were cultured in vitro,compared with the control group,IGF-1R mRNA and protein expression levels in each T-2 toxin groups were significantly reduced (P < 0.05).The expression levels of IGF-1R mRNA (1.95 ± 0.35,2.44 ± 0.17,2.40 ± 0.15) in 6,12,24 μg/L T-2 toxin + 0.1 mg/L selenium groups were significantly higher than those in T-2 toxin groups (0.80 ± 0.08,0.63 ± 0.08,0.61 ± 0.11,t =-12.259,-11.279,-13.371,P< 0.05).The expression levels of IGF-1R protein (1.67 ± 0.70,1.07 ± 0.26) in 6,12 μg/L T-2 toxin + 0.1 mg/L selenium groups were significantly higher than those in T-2 toxin groups (0.52 ± 0.05,0.72 ± 0.05,t =-25.977,-10.776,P < 0.05).Compared with the control group [(5.33 ± 0.85)%,(4.03 ± 1.15)%],C28/I2 cells early apoptosis rates [(8.26 ± 1.51)%,(13.00 ± 0.72)%,(13.19 ± 1.05)%] in each of IGF-1R inhibitor groups,and late apoptosis rates [(8.50 ± 0.71)%,(14.21 ± 1.10)%] in 500,1 000 μg/L IGF-1R inhibitor groups were increased significantly (P < 0.05).Conclusions The expressions of IGF-1R in the cartilage tissue of KBD children and T-2 toxin-poisoned rats under low selenium condition are decreased.T-2 toxin decreases the expression of IGF-1R in chondrocytes,and selenium can partly inhibit the effect of T-2 toxin on IGF-1R.Down-regulation of IGF-1R causes chondrocyte apoptosis,and it may play an important role in KBD chondrocyte apoptosis.
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Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.
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Objective To investigate the expression of vascular cell adhesion molecule-1 (VC.AM-1) in oxidative stress induced hypertrophic chondrocytes,in Kaschin-Beck disease (KBD) patients and in rat fed with T-2 toxin under selenium deficient conditions in order to analyze the relationship between VCAM-1 biological function and the dysregulation of chondrocyte differentiation in KBD.Methods The ATDC5 was cultured in 1% ITS solution (10 mg/L insulin,5.5 mg/L transferrin,and 6.7 μg/L sodium selenite) for 21 days,and stimulated with 3-morpholino-sydnonimine (SIN-1,a nitric oxide [NO] donor) to obtain the oxidative stress induced hypertrophic chondrocytes.Real-time PCR was used to detect VCAM-1 mRNA in hypertrophic chondrocytes induced by different concentrations of SIN-1.The expressions of VCAM-I in articular cartilage of child and adult KBD patients and KBD animal model were determined via the immunohistochemical method,and KBD cartilage samples were obtained in KBD areas from KBD child who had died or from adults who had had surgery.Results After treatment of hypertrophic chondrocytes (ATCD5 cells) with SIN-1 (0,1,3,5 mmol/L),VCAM-1 mRNA levels (1.00 + 0.00,1.22 ± 0.20,0.71 ± 0.22,0.37 ± 0.16) were decreased in a dose-dependent manner when compared with the control group (F =27.788,P < 0.05).The densities of VCAM-1 positive cells in superficial and middle zones of the articular cartilage of children KBD patients [(16.08 ± 5.20)%,(19.20 ± 9.71)%] were higher than those of control group [(0.00 ± 0.00)%,(0.00 ± 0.00)%],while that in the deep zone [(7.00 ± 4.40)%] in children KBD patients was significantly lower than that of control [(51.60 ± 20.58)%,tS/M/D=-10.972,-6.249,6.564,P < 0.05].The positive cell density of VCAM-1 in the adult patients was significantly increased in the superficial zone [(7.92 ± 4.29)% vs (3.12 ± 1.12)%] but significantly decreased in the middle zone [(17.54 ± 8.27)% vs (31.75 ± 13.30)%] of articular cartilage when compared with that of control group (tS/D =-3.824,3.037,P < 0.05).In articular cartilage of the four groups of KBD rats,the density of VCAM-1 positive cells in the superficial zone was significantly higher in low selenium diet group,T-2 toxin diet group and selenium deficient plus T-2 toxin diet group [(4.11 ± 1.90)%,(5.00 ±2.02)%,(2.78 ± 1.48)% vs (1.89 ± 1.76)%,P < 0.05].But the density of VCAM-1 positive cells in the deep zone was significantly lower in rat feed with selenium diet and selenium deficient plus T-2 toxin diet [(13.67 ± 2.45)%,(20.56 ± 7.42)%] than that of control group [(33.00 ± 12.57)%,P < 0.05] in the epiphyseal cartilage of KBD rats.Conclusions The level of VCAM-1 is decreased both in the SIN-1 induced hypertrophic chondrocytes and in the deep zone of articular cartilage in KBD patients and in rat fed with T-2 toxin and selenium-deficient diets.VCAM-1 may be associated with the death of deep zone chondrocytes and differentiation disorder in cartilage.
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Family-based cohort study is a special type of study design,in which biological samples and environmental exposure information of the member in a family are collected and related follow up is conducted.Family-based cohort study can be applied to explore the effect of genetic factors,environmental factors,gene-gene interaction,and gene-environment interaction in the etiology of complex diseases.This paper summarizes the objectives,methods and results,as well as the opportunities and challenges of the family-based cohort study on common chronic non-communicable diseases in rural population in northern China.
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Objective To describe the study design,the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study.Methods Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank.A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018,including questionnaire survey,physical and biochemical indicators examinations,and blood sample collection in adults aged ≥ 18 years.In addition,family relationship of the participants was also recorded.The pedigree information of the juveniles under 18 years old were also collected.Results The baseline survey included 2 727 individuals in two clans,of whom 2 373 (87.0%) were adults,and 2 126 participants completed questionnaires,physical examinations and biochemical tests.The average age of the 2 126 participants was (57.9 ± 13.3) years,with 39.4% being males.The current smoking rates in male and female participants were 41.2% and 2.1%,respectively.The corresponding rates of current alcohol consumption were 19.0% and 2.6%.For common chronic diseases,the prevalence rates were 51.3% for hypertension,9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses,health examination results and biochemical examination results in class 1Ⅱor Ⅲ hospitals.Based on the family relationship information and genealogical data,710 pedigrees were finally identified,consisting of 5 087 family members.The numbers of five,four,three,and two generations pedigrees were 3,88,238 and 381,respectively.The pairs of the first to the fifth degree relatives were 12 039,2 662,1 511,202 and 31,respectively.Conclusion The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors,environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.
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Non-syndromic oral clefts (NSOC) are among the most common birth defects. The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China, which is higher than those in other major ethnic groups. The etiology of NSOC is complex and heterogeneous, which involves both genetic and environmental risk factors. Although genome-wide association studies have identified a number of risk loci, these loci can only account for a small proportion of the heritability of NSOC. The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC. This paper summaries the progress in the next-generation sequencing research of NSOC.
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Humanos , Povo Asiático/genética , China , Fenda Labial/genética , Fissura Palatina/genética , Etnicidade/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Family-based cohort study is a special type of study design, in which biological samples and environmental exposure information of the member in a family are collected and related follow up is conducted. Family-based cohort study can be applied to explore the effect of genetic factors, environmental factors, gene-gene interaction, and gene-environment interaction in the etiology of complex diseases. This paper summarizes the objectives, methods and results, as well as the opportunities and challenges of the family-based cohort study on common chronic non-communicable diseases in rural population in northern China.
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Feminino , Humanos , Masculino , Pessoa de Meia-Idade , China/epidemiologia , Doença Crônica/etnologia , Estudos de Coortes , Interação Gene-Ambiente , Doenças não Transmissíveis/etnologia , Projetos de Pesquisa , População RuralRESUMO
Objective: To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study. Methods: Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected. Results: The baseline survey included 2 727 individuals in two clans, of whom 2 373 (87.0%) were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was (57.9±13.3) years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively. Conclusion: The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , China/epidemiologia , Doença Crônica/etnologia , Estudos de Coortes , Diabetes Mellitus/etnologia , Saúde da Família , Interação Gene-Ambiente , Predisposição Genética para Doença/etnologia , Hiperlipidemias/etnologia , Hipertensão/etnologia , Linhagem , Estudos Prospectivos , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Objective To investigate the death of chondrocytes in rats which feed with T-2 toxin under selenium (Se) deficient conditions.Methods Thirty two healthy male SD rats were divided into two groups by weight which were normal diet group and Se deficiency diet group,16 rats in each group.Rats in normal diet group were fed with Se 101.5 μg/kg diet,and rats in Se deficiency diet group were fed with Se 1.1 μg/kg diet for 30 d.Normal diet group was divided into control group and T-2 toxin group,and Se deliciency diet group was randomly divided into Se-deficiency group and Se-deficiency plus T-2 toxin group,8 rats in each group.After that,rats in T-2 toxin and Se-deficiency plus T-2 toxin groups were administrated intragastrically with T-2 toxin (100 μg/kg) everyday for 30 d.Rats were put to death,the left knee was taken and stained with hematoxylin-eosin and SafraninFast green,pathological changes of rat's knee joint cartilage were observed under light microscopy,expression levels of active caspase-3 and receptor interacting protein 3 (RIP3) in rat's articular cartilage cells were determined via the immunohistochemical method.The apoptosis was also detected by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling assay (TUNEL).Results Red ghost outlines of chondrocyte and multiple chondral cell clusters surrounded the non-cell areas in deep zone of articular cartilage of knee joint stained with hematoxylineosin were seen in Se-deficiency plus T-2 toxin group under light microscope.In the superficial zone of cartilage,the positive percent of TUNEL and active caspase-3 in Se-deficiency plus T-2 toxin group was higher than those of control group,Se-deficiency group and T-2 toxin group [(7.47-± 0.34)% vs (4.68 ± 0.54)%,(2.67-± 0.64)%,(2.56 ±0.54)%;(4.75 ± 0.67)% vs (1.24 ± 0.25)%,(0.00 ± 0.00)%,(0.00 ± 0.00)%,P < 0.05].In the middle zone of cartilage,the positive percent of TUNEL,active caspase-3 and RIP3 in Se-deficiency plus T-2 toxin group was significantly higher than those of control group,T-2 toxin group and Se-deficiency group [(72.06 ± 6.15)% vs (16.10 ± 3.00)%,(19.57 ± 3.49)%,(19.33 ± 5.19)%;(51.13 ± 4.18)% vs (10.97-± 3.01)%,(15.36 ± 4.37)%,(15.23 ± 3.13)%;(25.91 ± 13.39)% vs (1.59 ± 1.14)%,(4.32 ± 2.91)%,(7.50 ± 5.00)%,P < 0.05].The positive percents of TUNEL,active caspase-3 and RIP3 were not significantly different in the deep zone (P > 0.05).Conclusion The death of the middle zone in the rat cartilage induced by T-2 toxin under selenium deficient conditions isapoptosis and necroptosis.
RESUMO
Chronic obstructive pulmonary disease (COPD) refers to a common complex disease characterized by progressive and incomplete reversible airflow limitation.COPD is one of the leading causes on morbidity and mortality in China.Genetic risk factors play important roles on the occurrence of COPD.However,the genetic risk factors of COPD remain unknown,to some extent.The aim of this review is to provide a comprehensive overview on literature concerning the most promising findings related to genetic risk factors of COPD.
RESUMO
Chronic obstructive pulmonary disease (COPD) refers to a common complex disease characterized by progressive and incomplete reversible airflow limitation.COPD is one of the leading causes on morbidity and mortality in China.Genetic risk factors play important roles on the occurrence of COPD.However,the genetic risk factors of COPD remain unknown,to some extent.The aim of this review is to provide a comprehensive overview on literature concerning the most promising findings related to genetic risk factors of COPD.