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The Impact of Adolescent and Young Adult Cancer-AJA-on Family Functioning.Study of Family Relationships in Terms of Adaptability and Cohesion
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作者 Voskan Kirakosyan Manon Arnoult 《Psycho-Oncologie》 SCIE 2024年第4期337-347,共11页
Objectives:The arrival of cancer in adolescents and young adults(aged 15 to 24 years)-Adolescents and young adults(AJA)-corresponds to a fragile period during which the adulthood of the young person and the evolution ... Objectives:The arrival of cancer in adolescents and young adults(aged 15 to 24 years)-Adolescents and young adults(AJA)-corresponds to a fragile period during which the adulthood of the young person and the evolution of family ties mobilize the family as a whole.Therefore,cancer,beyond its individual traumatic dimension,affects the whole family,which can modify family ties and family functioning.Our objective is to evaluate family functioning from the complex model evaluating cohesion and adaptability when an adolescent or young adult has cancer.Methods:Adolescents and young adults with cancer(n=41),mothers(n=41),and fathers(n=13)participated in this study.They completed the Family Adaptation and Cohesion Scales(FACES Ⅲ)questionnaire.Family functioning when an aya is ill has been compared to that of families without any disease.Results:a comparison of the mean scores of perceived cohesion and adaptability of face Ⅲ indicates no significant difference for cohesion.In contrast,the averages of the adaptability scores of our sample with those of the general population indicate that families with cancer hais generally feel more“adaptable”than the non-clinical population.These results are statistically significant for AJA,but also for mothers and fathers.Regarding the mean scores of ideal cohesion and ideal adaptability,there are no significant differences between fathers in our sample and fathers in the general population.In contrast,mothers in our sample had less ideal adaptability than those in the general population.In aya patients with cancer,the scores of both adaptability and cohesion were significantly different from those of non-diseased adolescents.Conclusion:Cancer leads to many changes in family relationships,making it difficult to empower the young patient and latent the evolution of the relationship. 展开更多
关键词 Adolescent and young adult CANCER and family and family functioning family relations relations
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Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM 被引量:2
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作者 Liang Chen Zhongyin Zhou +4 位作者 Huihe Lu Ye Xie Gang Li Jianfei Huang Dongsheng Zhao 《The Journal of Biomedical Research》 CAS CSCD 2018年第4期314-316,共3页
Dilated cardiomyopathy(DCM)is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM... Dilated cardiomyopathy(DCM)is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely 展开更多
关键词 related gene filter in a family with familiar DCM AVB Identification of a LMNA c.646C T variant by whole-exome sequencing in combination with a dilated cardiomyopathy
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Depressed-type (0-IIc) colorectal neoplasm in patients with family history of first-degree relatives with colorectal cancer:A cross-sectional study 被引量:1
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作者 Junko Iwasaki Yasushi Sano +9 位作者 Kuang-I Fu Ai Machida Tatsuya Okuno Hikaru Kuwamura Takayuki Yoshino Kiyomi Mera Shigeharu Kato Atsushi Ohtsu Shigeaki Yoshida Takahiro Fujii 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第19期3082-3087,共6页
AIM: TO investigate the correlation of depressed-type (0-IIc) colorectal neoplasm and family history of firstdegree relatives (FDR) with colorectal cancer (CRC). METHODS: This cross-sectional study was conduct... AIM: TO investigate the correlation of depressed-type (0-IIc) colorectal neoplasm and family history of firstdegree relatives (FDR) with colorectal cancer (CRC). METHODS: This cross-sectional study was conducted from June 2000 to October 2002 at National Cancer Center Hospital East. Eligible patients undergoing initial total colonoscopy were surveyed regarding family history of CRC among FDR by a questionnaire prior to colonoscopic examinations. All endoscopic findings during colonoscopy were recorded and the macroscopic classification of the early stage neoplasm/cancer was classified into two types (0-IIc vs non 0-IIc). Odds ratios (OR) and 95% confidence intervals (CI) were calculated by univariate and multivariate logistic regression to estimate the association between macroscopic features and clinicopathological data including gender, age, and family history of FDR with CRC. RESULTS: The OR of an association between family history of FDR with CRC and overall early stage neoplasm adjusted by gender and age was 1.85 (95% CI: 1.31-2.61, P = 0.0004), that for non 0-IIc neoplasm was 1.71 (95% CI: 1.22-2.41, P = 0.0017) and for 0-IIc colorectal neoplasm was 2.78 (95% CI: 1.49-5.16, P = 0.0031). CONCLUSION: Our study shows a significant association between a family history of FDR with CRC and 0-IIc colorectal neoplasm. When patients with a family history of FDR with CRC undergo colonoscopy, colonoscopists should check carefully for not only polypoid, but also depressed-type (0-IIc) lesions. 展开更多
关键词 Depressed-type family history Colorecta cancer First-degree relative COLONOSCOPY
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The Investigation of Relative Efficacy Family Training and Life Strategies on Caring Chronic Mental Illness in Family
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作者 Hoseini Shadi Toozandehjani Hassan 《Open Journal of Medical Psychology》 2017年第2期133-143,共11页
This research is a semi-empirical study aiming to examine the effect of family trainings and life skills among the families, if Mashhad with chronic mental disorders. In doing this research, a sample of 300 subjects h... This research is a semi-empirical study aiming to examine the effect of family trainings and life skills among the families, if Mashhad with chronic mental disorders. In doing this research, a sample of 300 subjects has been chosen in the stratified random and systematic approach from the families of chronic mental disorders who have been admitted in round the clock centers in Mashhad and who have been in the waiting list and these subjects have been divided to two groups of experiment and control randomly and we introduce family trainings and life skills to the experiment group. There was no training to control group. These two groups were tested in period to the beginning of trainings and post training with instruments such as taking care and mental disorders attitude questionnaire, life skills attitude questionnaire, California social adjustment? questionnaire, Rosenberg self-esteem, general health questionnaire and epidemiological mental disorders questionnaire. The result indicated that training had no effect on the attitude of families toward taking care of mental disorder, but family member’s attitude toward mental disorder had been changed. These trainings have been influential on changing family member’s attitude toward life skills, social adjustment, self-esteem, mental health increase and reducing mental disorders. 展开更多
关键词 relative EFFICACY family Training Life Strategies CHRONIC MENTAL Illness
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What is the quantitative risk of gastric cancer in the first-degree relatives of patients? A meta-analysis 被引量:15
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作者 Mohammad Yaghoobi Julia McNabb-Baltar +1 位作者 Raheleh Bijarchi Richard H Hunt 《World Journal of Gastroenterology》 SCIE CAS 2017年第13期2435-2442,共8页
AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family ... AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family history of gastric cancer in patients with gastric cancer, vs non-gastric cancer controls were retrieved. Studies with missed or non-extractable data, studies in children, abstracts, and duplicate publications were excluded. A meta-analysis of pooled odd ratios was performed using Review Manager 5.0.25. We performed subgroup analysis on Asian studies and a sensitivity analysis based on the quality of the studies, type of the outcome, sample size, and whether studies considered only first-degree relatives.RESULTSThirty-two relevant studies out of 612 potential abstracts (n = 80690 individuals) were included. 19.0% of the patients and 10.9% of the controls had at least one relative with gastric cancer (P < 0.00001). The pooled relative risk for the development of gastric cancer in association with a positive family history was 2.35 (95%CI: 1.96-2.81). The Cochran Q test for heterogeneity was positive (P < 0.00001, I² = 92%). After excluding the three outlier studies with the highest relative risks, heterogeneity remained significant (P < 0.00001, I² = 90%). The result was not different among Asian studies as compared to others and remained robust in several sensitivity analyses. In the 26 studies which exclusively analysed the history of gastric cancer in first-degree relatives, the relative risk was 2.71 (95%CI: 2.08-3.53; P < 0.00001).CONCLUSIONIndividuals with a first-degree relative affected with gastric cancer have a risk of about 2.5-fold for the development of gastric cancer. This could be due to genetic or environmental factors. Screening and preventive strategies should be developed for this high-risk population. 展开更多
关键词 Gastric cancer RISK relativeS family history META-ANALYSIS
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Stomach cancer screening and preventive behaviors in relatives of gastric cancer patients 被引量:4
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作者 Jung Min Kang Dong Wook Shin +5 位作者 Young Min Kwon Sang Min Park Min Sun Park Jin Ho Park Ki Young Son Be Long Cho 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第30期3518-3525,共8页
AIM:To investigate gastric cancer screening and preventive behaviors among the relatives of patients with gastric cancer[i.e.,gastric cancer relatives(GCRs)].METHODS:We examined the Korean National Health and Nutritio... AIM:To investigate gastric cancer screening and preventive behaviors among the relatives of patients with gastric cancer[i.e.,gastric cancer relatives(GCRs)].METHODS:We examined the Korean National Health and Nutrition Examination Survey 2005(KNHANESⅢ) database and compared the gastric cancer screening and preventive behaviors of GCRs(n=261)with those of non-GCRs(n=454)and controls without a family history of cancer(n=2842).RESULTS:The GCRs were more likely to undergo gastric cancer screening compared with the control group(39.2%vs 32.3%,adjusted odds ratio:1.43,CI:1.05-1.95),although the absolute screening rate was low.Dietary patterns and smoking rates did not differ significantly between the groups,and a high proportion of GCRs reported inappropriate dietary habits(i.e.,approximately 95%consumed excessive sodium,30% were deficient in vitamin C,and 85%were deficient in dietary fiber).CONCLUSION:The gastric cancer screening and preventive behaviors of GCRs have yet to be improved.To increase awareness among GCRs,systematic family education programs should be implemented. 展开更多
关键词 family history of cancer Cancer relatives Gastric cancer screening Preventive behaviors Cancerprevention
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Family-relatedFactorsThatInfluenceChildren’sAcademicAchievementsinSchool
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作者 何献忠 《陕西师范大学学报(哲学社会科学版)》 CSSCI 北大核心 2002年第S1期323-328,共6页
This essay studies various family-related factors that influence a child’s academic achievement in school in P.R. China. The factors are illustrated under three categories: the family’s social class and education, e... This essay studies various family-related factors that influence a child’s academic achievement in school in P.R. China. The factors are illustrated under three categories: the family’s social class and education, early home environment and family material condition. The author discusses the relevant factors by way of relating the knowledge of social environment to his own experiences as a student and then teacher in China. The essay closes with a discussion directing the public’s attention to the concern about home-related factors influencing a child’s academic achievements in school. 展开更多
关键词 family related factors childrens academic achievements home environment material condition
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Cancer risk in relatives of BRCA1/2 pathogenic variant carriers in a large series of unselected patients with breast cancer 被引量:1
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作者 Jiaming Liu Lu Yao +5 位作者 Jie Sun Li Hu Jiuan Chen Juan Zhang Ye Xu Yuntao Xie 《Cancer Biology & Medicine》 SCIE CAS CSCD 2023年第2期147-154,共8页
Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer pat... Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers. 展开更多
关键词 BRCA1 variant BRCA2 variant cancer risk in relatives Chinese breast cancer patients family history of cancer
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Intensive care environment: Perspective of relatives of critically ill patient sustained by health technology 被引量:1
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作者 Chinomso Ugochukwu NWOZICHI Olaolorunpo OLORUNFEMI 《Journal of Integrative Nursing》 2023年第2期102-107,共6页
The intensive care unit(ICU)is a complex setting by nature,and some have described it as bizarre due to its numerous sirens that sound when anything is dangerous,constant activity,equipment,bright lights,and high fata... The intensive care unit(ICU)is a complex setting by nature,and some have described it as bizarre due to its numerous sirens that sound when anything is dangerous,constant activity,equipment,bright lights,and high fatality rate.The demands placed on nurses to care for critically ill patients in this environment frequently prevent nurses and other health‑care professionals from acknowledging the feelings of patient’s relatives or family caregivers,resulting in a hostile environment from the patient’s relative’s perspective.When a patient’s family enters the ICU,they feel that hospital administrators do little to nothing to alleviate their discomfort and fear.Despite research demonstrating the importance of providing a homely environment for patients’families,In Nigeria ICU is still far behind how a conventional ICU environment should be structured to accommodate patient’s relations in the unit.The goal of this study was to look at the patient’s relative’s perspective on providing care for a critically ill patient in an ICU,with a focus on the unit’s complexity and overall experience.Based on the findings of this study,we recommend that hospital administrators ensure that the environment of the upcoming ICU is designed to meet the needs of patient’s relatives by addressing identified environmental concerns,like caring neglect,by providing a friendly and stress‑free environment. 展开更多
关键词 family caregivers health technologies critically ill patients intensive care unit patient’s relative’s perspective
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Age-related Changes in Familial Hypertrophic Cardiomyopathy Phenotype in Transgenic Mice and Humans 被引量:1
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作者 罗鸿昌 Iraklis Pozios +3 位作者 Styliani Vakrou Lars Sorensen Roselle M.Abraham Theodore Abraham 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2014年第5期634-639,共6页
β-myosin heavy chain mutations are the most frequently identified basis for hypertrophic cardiomyopathy (HCM). A transgenic mouse model (αMHC403) has been extensively used to study various mechanistic aspects of... β-myosin heavy chain mutations are the most frequently identified basis for hypertrophic cardiomyopathy (HCM). A transgenic mouse model (αMHC403) has been extensively used to study various mechanistic aspects of HCM. There is general skepticism whether mouse and human disease features are similar. Herein we compare morphologie and functional characteristics, and disease evolu- tion, in a transgenic mouse and a single family with a MHC mutation. Ten male αWHC403 transgenic mice (at -5 weeks, -12 weeks, and -24 weeks) and 10 HCM patients from the same family with a β-myosin heavy chain mutation were enrolled. Morphometric, conventional echocardiographic, tissue Doppler and strain analytic characteristics of transgenic mice and HCM patients were assessed. Ten male transgenic mice (αMHC403) were examined at ages -5 weeks, -12 weeks, and -24 Weeks. In the transgenic mice, aging was associated with a significant increase in septal (0.59±0.06 vs. 0.64±-0.05 vs. 0.69±0.11 mm, P〈0.01) and anterior wall thickness (0.58±0.1 vs. 0.62±0.07 vs. 0.80-1-0.16 mm, P〈0.001), which was coincident with a significant decrease in circumferential strain (-22%=1=4% vs. -20%-4-3% vs. -19%-4-3%, P=0.03), global longitudinal strain (-19%-4-3% vs. -17%-4-2% vs. -16%±3%, P=0.001) and E/A ratio (1.9±0.3 vs. 1.7-4-0.3 vs. 1.4-4-0.3, P=0.01). The HCM patients were classified into 1st generation (n=6; mean age 534-6 years), and 2nd generation (n=4; mean age 32+8 years). Septal thickness (2.2±0.9 vs. 1.4±0.1 cm, P〈0.05), left atrial (LA) volume (62±16 vs. 41±5 mL, P=0.03), E/A ratio (0.77±0.21 vs. 1.1±0.1, P=0.01), E/e' ratio (25±10 vs. 12±2, P=0.03), global left ventricular (LV) strain (-14%±3% vs. -20%±3%, P=0.01) and global LV early diastolic strain rate (0.76±0.17 s1 vs. 1.3±0.2 s-1, P=0.01) were significantly worse in the older generation. In β-myosin heavy chain muta- tions, transgenic mice and humans have similar progression in morphologic and functional abnormali- ties. The αMHC4±3 transgenic mouse model closely recapitulates human disease. 展开更多
关键词 familial hypertrophic cardiomyopathy transgenic mice AGE-relatED
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椎间盘退变中胶原蛋白的代谢失衡
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作者 董亦直 宋鑫越 +4 位作者 姚鸣宇 朱赫 吴瑞霞 都亚新 祝勇 《中国组织工程研究》 CAS 北大核心 2025年第14期3011-3019,共9页
背景:腰椎间盘退行性疾病是导致腰痛和下肢神经症状的常见疾病。胶原代谢的平衡在维持椎间盘的稳定中发挥着重要的作用。目的:对椎间盘退变中胶原蛋白代谢失衡的研究进展作一综述。方法:由第一作者在中国知网、PubMed、Web of Science... 背景:腰椎间盘退行性疾病是导致腰痛和下肢神经症状的常见疾病。胶原代谢的平衡在维持椎间盘的稳定中发挥着重要的作用。目的:对椎间盘退变中胶原蛋白代谢失衡的研究进展作一综述。方法:由第一作者在中国知网、PubMed、Web of Science数据库中检索2024年5月之前发表的相关文章,中文检索词为“椎间盘退变疾病”“胶原代谢”“胶原酶家族”“胶原合成相关因子”“细胞因子”,英文检索词为“degenerative disc disease”“Collagen metabolism”“Collagenase family”“Collagen synthesis related factors”“Collagen breakdown related factors”。最终纳入76篇文献进行综述。结果与结论:在椎间盘退变的过程中,胶原蛋白代谢的平衡在维持正常椎间盘的稳定中起到至关重要的作用。当椎间盘发生退变时,椎间盘内分泌大量促炎因子、胶原酶,并发生氧化应激反应等,使椎间盘内胶原蛋白分解增加,同时抑制生长因子、胶原蛋白合成酶、胶原蛋合成相关因子的生成,使椎间盘内胶原蛋白合成减少。上述两种情况共同作用使椎间盘内胶原蛋白的代谢平衡被打破,进一步加剧了椎间盘退变的进程。 展开更多
关键词 腰椎间盘退行性疾病 胶原代谢 胶原酶家族 胶原合成相关因子 胶原分解相关因子 综述
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基于医院-社区-家庭一体化的干预模式对经介入治疗的肝癌患者的效果
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作者 高晓燕 段蓓蓓 荔婷婷 《河南医学研究》 2025年第1期151-154,共4页
目的探讨基于医院-社区-家庭一体化的干预模式在经介入治疗的肝癌患者中的应用效果。方法回顾性选取2021年9月至2022年8月于河南科技大学第一附属医院介入科接受介入治疗的95例肝癌患者,按照随机数字表法将其分为对照组(47例,接受常规干... 目的探讨基于医院-社区-家庭一体化的干预模式在经介入治疗的肝癌患者中的应用效果。方法回顾性选取2021年9月至2022年8月于河南科技大学第一附属医院介入科接受介入治疗的95例肝癌患者,按照随机数字表法将其分为对照组(47例,接受常规干预)和观察组(48例,接受基于医院-社区-家庭一体化的干预模式)。结果较干预前,随访6个月后,两组汉密尔顿焦虑量表(HAMA)、汉密顿抑郁量表(HAMD)、癌因性疲乏、症状自评量表评分均降低,且观察组低于对照组,心理弹性量表简化版(CD-RISC10)、自护能力评分均升高,观察组高于对照组(P<0.05);随访6个月后,与对照组比,观察组护理满意度更高(P<0.05);研究期间,与对照组比,观察组并发症总发生率更低(P<0.05)。结论基于医院-社区-家庭一体化的干预模式可有效缓解肝癌介入治疗患者焦虑、抑郁等负性情绪,改善其心理弹性恢复能力、自护能力,提高其心理健康程度及对护理的满意程度,还能降低患者疲乏程度、并发症发生率。 展开更多
关键词 肝癌 介入治疗 医院-社区-家庭一体化 心理状态 心理健康 癌因性疲乏
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Relative Broken Family Sensitivity
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作者 Zhuo Wei LIU Tao YU 《Acta Mathematica Sinica,English Series》 SCIE CSCD 2024年第9期2297-2306,共10页
Letπ:(X,T)→(Y,S)be a factor map between two topological dynamical systems,and F_(a) Furstenberg family of Z.We introduce the notion of relative broken F-sensitivity.Let Fs(resp.Fpubd,Finf)be the families consisting ... Letπ:(X,T)→(Y,S)be a factor map between two topological dynamical systems,and F_(a) Furstenberg family of Z.We introduce the notion of relative broken F-sensitivity.Let Fs(resp.Fpubd,Finf)be the families consisting of all syndetic subsets(resp.positive upper Banach density subsets,infinite subsets).We show that for a factor mapπ:(X,T)→(Y,S)between transitive systems,πis relatively broken F-sensitive for F=Fs or Fpubd if and only if there exists a relative sensitive pair which is an F-recurrent point of(R_(π),T^((2)));is relatively broken Finf-sensitive if and only if there exists a relative sensitive pair which is not asymptotic.For a factor mapπ:(X,T)→(Y,S)between minimal systems,we get the structure of relative broken F-sensitivity by the factor map to its maximal equicontinuous factor. 展开更多
关键词 relative sensitivity recurrent points Furstenberg family relative sensitive pairs maximal equicontinuous factor
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PRRT2基因突变相关疾病谱的临床特征及遗传学分析
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作者 王诗雨 唐蒙蒙 +5 位作者 刘辉 张田田 陈润泽 朱小颖 贾宇 张礼萍 《中国实用神经疾病杂志》 2025年第1期1-6,共6页
目的回顾性分析总结10例PRRT2基因突变相关疾病谱患者的临床特点及遗传学特征。方法收集2020-07—2022-08就诊于首都医科大学宣武医院儿科的10例PRRT2基因相关癫痫患儿的临床特征、脑电图、头颅磁共振检查、基因特征及治疗结果,回顾性... 目的回顾性分析总结10例PRRT2基因突变相关疾病谱患者的临床特点及遗传学特征。方法收集2020-07—2022-08就诊于首都医科大学宣武医院儿科的10例PRRT2基因相关癫痫患儿的临床特征、脑电图、头颅磁共振检查、基因特征及治疗结果,回顾性分析其特征。结果10例患儿均提示PRRT2基因杂合突变,其中3例为片段缺失,5例为移码突变,1例为剪接突变。10例患者中男5例,女5例,起病年龄4个月~10岁,其中7例诊断为自限性家族性婴儿癫痫(SFIE),1例诊断为发作性运动诱发性运动障碍(PKD),2例诊断为伴婴儿惊厥的发作性运动诱发性运动障碍(IC/PKD);5例存在PRRT2基因突变相关疾病家族史。7例口服奥卡西平治疗后发作控制,3例口服左乙拉西坦治疗后发作控制。结论PKD、SFIE及IC/PKD是一组与PRRT2基因突变相关的疾病谱,c.649dupC基因突变位点是热点突变位点。对于高度考虑SFIE、PKD及IC/PKD的患者,如全外显子测序未发现异常基因,需进一步行内含子及染色体微缺失/微重复检测,达到早期诊断及治疗的目的。 展开更多
关键词 富含脯氨酸的跨膜蛋白2 PRRT2基因突变相关疾病谱 发作性运动诱发性运动障碍 自限性家族性婴儿癫痫 伴婴儿惊厥的发作性运动诱发性运动障碍 临床特点 遗传学特征
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Family functioning and depression in primary caregivers of stroke patients in China 被引量:1
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作者 Yuan-li Guo Yan-jin Liu 《International Journal of Nursing Sciences》 2015年第2期184-189,共6页
Objective:To determine the relationship between family functioning and depression in primary caregivers of stroke survivors in China.Design:Baseline cross-sectional data from an intervention study for stroke survivors... Objective:To determine the relationship between family functioning and depression in primary caregivers of stroke survivors in China.Design:Baseline cross-sectional data from an intervention study for stroke survivors and their families were used.Setting:Neurology inpatient service of a large urban hospital.Participants:Stroke survivors(n=180),each with a primary caregiver,were enrolled in this study.The mean age of stroke survivors was 65.60 years,and the mean age of primary caregivers was 57.60 years.Interventions:Not applicable.Methods:The Family Assessment Device(FAD)and Center for Epidemiologic Studies Depression Scale(CES-D),respectively,were used.Results:Following a stroke of a family member,71%of caregivers experienced depressive symptoms.Higher depression severity in caregivers was linked to caregiver education,stroke survivor ADLs,and family functioning.Conclusion:Assessment of family functioning may help determine which caregivers are most at risk for developing depressive syndrome. 展开更多
关键词 STROKE CAREGIVER family relations DEPRESSION
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Loneliness in Older Chilean People: Importance of Family Dysfunction and Depression 被引量:1
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作者 Marcela Carrasco MBeatriz Fernández +1 位作者 Emma Alexander MSoledad Herrera 《International Journal of Mental Health Promotion》 2021年第1期99-109,共11页
Loneliness is considered a public health problem that negatively affects wellbeing,especially in the older population.In Latin-American countries,most of the older population live with their family.Although this is th... Loneliness is considered a public health problem that negatively affects wellbeing,especially in the older population.In Latin-American countries,most of the older population live with their family.Although this is thought to diminish feelings of loneliness,there is scarce data to support this.The objective of this study is to determine the prevalence of loneliness and evaluate its association with objective social networks,family functioning and perception of social support,in a sample of older people from Santiago,Chile.A survey was conducted of a representative sample of community older people(60–97 years)from Santiago,Chile,using the UCLA abbreviated scale of loneliness.Logistic regression was performed to test the variables related to the loneliness of older people.A total of 1,217 older people were interviewed.88%were living with at least one person at home and 92%had living children.Using the UCLA abbreviated scale,45%were found to perceive feelings of loneliness at least some of the time.Logistic regression showed significant association between loneliness and family dysfunction;depressive symptoms;living alone;not having a partner(widowed,separated or single);having little contact with relatives and friends;feeling a lack of social support;and sensation of poor self-efficacy.Loneliness is a prevalent public health problem in this older Latin-American community.Living accompanied does not protect against loneliness,particularly in vulnerable groups such as those with depression,or when there are family conflicts.The high prevalence of loneliness strongly conveys the need for public health policies to address loneliness in older people. 展开更多
关键词 Ageing family relations LONELINESS social support
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A Review of Systemic Lupus Erythematosus (SLE): Symptoms, Risk Factors, Treatment, and Health Related Quality of Life Issues 被引量:1
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作者 Sarah N. Al-Gahtani 《Open Journal of Rheumatology and Autoimmune Diseases》 2021年第4期115-143,共29页
In this paper</span><span style="font-family:Verdana;">,</span><span style="font-family:Verdana;"> we present a thorough review of one of the most</span><span style... In this paper</span><span style="font-family:Verdana;">,</span><span style="font-family:Verdana;"> we present a thorough review of one of the most</span><span style="font-family:Verdana;"> life-threatening autoimmune diseases, Systemic lupus erythematosus (lupus). Symptoms, risk factors, including genetic and epidemiological factors are discussed. Treatment, life expectancies, and Health Related Quality of Life of patients with SLE will be discussed as well. Special attention will be given to Lupus Nephritis. 展开更多
关键词 Autoimmune Disorders Systemic Lupus Erythematosus Environmental Risk Factors Familial Aggregation Lupus Nephritis Treatment of SLE Health related Quality of Life
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C1q/TNF-Related Protein 1 promotes arterial endothelial barrier dysfunction under disturbed flow
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作者 Xiaoqun Wang Chang Li +5 位作者 Jiawei Chen Ying Shen Zhuhui Liu Ruiyan Zhang Weifeng Shen Lin Lu 《中国循环杂志》 CSCD 北大核心 2018年第S01期122-122,共1页
Objective Atherosclerotic lesions preferentially occur at branch points of arterial trees where the blood flow is disturbed.Disturbed flow increases endothelial permeability,vascular barrier dysfunction,and finally th... Objective Atherosclerotic lesions preferentially occur at branch points of arterial trees where the blood flow is disturbed.Disturbed flow increases endothelial permeability,vascular barrier dysfunction,and finally the development of atherosclerosis.CTRP1,a member of C1q/TNF related protein(CTRP)family,is a novel secreted glycoprotein and its biological functions are largely undefined. 展开更多
关键词 blood flow atherosclerosis CTRP1 C1q/TNF relatED protein(CTRP)family
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Role of oxysterol-binding protein-related proteins in malignant human tumours 被引量:1
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作者 Hao Liu Shuai Huang 《World Journal of Clinical Cases》 SCIE 2020年第1期1-10,共10页
The oxysterol-binding protein-related protein(ORP)family is a group of proteins that mediate oxysterol metabolism and bioactivity in cells.ORPs constitute a large family of lipid transfer proteins.Much of the current ... The oxysterol-binding protein-related protein(ORP)family is a group of proteins that mediate oxysterol metabolism and bioactivity in cells.ORPs constitute a large family of lipid transfer proteins.Much of the current evidence indicates that certain members of the family of oxysterol-binding proteins(OSBPs)can lead to cancer.Many studies have revealed the putative roles of OSBPs in various cancer types.However,the exact effects and mechanisms of action of members of the OSBP/ORP family in cancer initiation and progression are currently unclear.This review focuses on ORP family members that can accelerate human tumour cell proliferation,migration,and invasion.The mechanisms and functions of various ORPs are introduced in detail.We also attempt to identify the roles of these proteins in malignant tumours with the ultimate aim of determining the exact role of the OSBP/ORP family in human tumour cells. 展开更多
关键词 Oxysterol-binding protein family Oxysterol-binding protein-related protein Malignant tumour ROLE Human tumour Tumour proliferation migration and invasion
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Families and Companion Animals in a Contemporary World: A Study of Bodies, Minds, and Emotions in Brazilian Cyberspace
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作者 Lavinia Davis Rangel Pessanha Roberto Luiz da Silva Carvalho 《Sociology Study》 2014年第6期544-553,共10页
The objective of this paper is to present the result of a research of images and messages addressed to pet owners, posted in news and advertising websites in Brazilian cyberspace in the period between 2005 and 2012. T... The objective of this paper is to present the result of a research of images and messages addressed to pet owners, posted in news and advertising websites in Brazilian cyberspace in the period between 2005 and 2012. There are a wide variety of pet products and services, similar to those available to the human being and note that pet care industry address the posts to pet owners and the messages intend to motivate the emotions and feelings for the animals, in a sentimental anthropomorphism process. The marketing messages are similar to those of products shaped to induce a person to buy luxury products. Market social interaction is driven by both the human-animal bond and the pet care market campaigns advertisement. In many situations, people interact with pet as a person or a member of the family, as a unique and special living being. The authors conclude that in families which people and animal interacts, new meanings emerge from this contact. 展开更多
关键词 family and companion animal relations consumption AFFECTIVITY
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