The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) is an umbrella term referring to two chronic idiopathic intestinal diseases: ulcerative colitis (UC) and Crohn’s disease (CD). Both UC and CD are characterized by immune activation that leads to symptoms, but the location, severity and behavior of the inflammation varies among individuals and in characteristic ways between UC and CD. A majority of patients with IBD are diagnosed in young adulthood, but the response to therapy is variable and difficult to predict, with some patients demonstrating a prompt and effective remission while others have continuous symptoms that do not respond to existing medical options. Surgery remains a frequent and necessary occurrence among patients with IBD, but in UC it is considered curative, while in CD only temporizing. Clinical observations, epidemiological studies, and molecular genetics have provided strong evidence that both genetic and environmental factors are important determinants for disease susceptibility. In recent years, a number of genes have been identified that associate with CD and UC, although the clinical utility of these discoveries in patients or in susceptible family members has not been determined. Nonetheless, it is hoped that these fundamental advances in our understanding of IBD will lead to better therapies for patients and prevention strategies for those who are susceptible. Effective incorporation of clinical genetic testing for IBD into practice will require appropriate education and counseling.     

Development and Validation of the Shy Bladder Scale

Paruresis, characterized by the difficulty or inability to urinate in a variety of social contexts, is a scientifically under-studied phenomenon. One reason for this state of affairs is the paucity of reliable and valid measures for assessing this problem. The present article attempted to address this limitation by investigating the psychometric properties and validity of a new measure of paruresis: the Shy Bladder Scale (SBS). In two undergraduate samples, the SBS demonstrated excellent internal consistency and a stable factor structure assessing difficulty urinating in public, impairment and distress, and paruresis-related fear of negative evaluation. Undergraduate students evidenced very low levels of paruresis-related concerns. In contrast, SBS scores were markedly elevated among individuals recruited from an online support network who appeared to meet diagnostic criteria for paruresis-specific social phobia. Our findings highlight the SBS's potential utility as a measure of paruresis in clinical and research contexts.     

老年人行结肠镜检查相关问题探讨

结肠镜检查是一项广泛用于临床的直观有效的诊断结肠疾病的方法。对于整体机能减退的老年人来说,我们可从结肠镜前准备工作中的三个方面:肠道准备用药的比较选择、基础合并症的处理以及医患交流和心理护理提高老年患者对结肠镜的耐受性。     

A collaborative family-systemic approach to treating chronic illness: irritable bowel syndrome as exemplar

This article describes an evolving collaborative relationship between a family therapist and a physician focused on the treatment of irritable bowel syndrome, a highly prevalent disorder which has several psychological characteristics. We began with a unique approach utilizing (1) simultaneous treatment by both specialists; (2) a focus on the relationship context of illness. This approach draws on family systemic theory and practice as well as a circular model of mind and body interaction. Because the intervention was significantly helpful to patients, the premises which informed it were then incorporated into a five session group treatment model. Results and clinical report support the efficacy of a collaborative systemic approach between a medical specialist and family psychologist in treating adult chronic illness.     

Different Associations of Health Related Quality of Life with Pain,Psychological Distress and Coping Strategies in Patients with Irritable Bowel Syndrome and Inflammatory Bowel Disorder

The primary aim of this study was to measure psychological distress, pain severity, health related quality of life (QOL) and pain coping strategies in patients with irritable bowel syndrome (IBS) and ulcerative colitis (UC). A second aim was to determine the influence of somatic and psychological variables on health related QOL. Eighty-eight IBS and 66 UC patients completed the Irritable Bowel Syndrome Quality of Life Questionnaire (IBSQOL), Pain Severity Scale of West Haven Yale Multidimensional Pain Inventory (WHYMPY), Symptom Checklist-90-R (SCL-90-R) and Coping Strategies Questionnaire (CSQ). T-tests and GLM Analysis of Covariance were used for statistical analysis. IBS patients had significantly higher levels of psychological distress, pain severity and maladaptive pain coping strategies (catastrophization), and lower QOL than UC patients. Variance of QOL in IBS was explained for the most part by catastrophization (15%), then by psychological distress (8%), and for the less part by pain severity (5%). In UC, pain severity explained 21%, psychological distress 8%, and catastrophization 3% of the variance of QOL. These results suggest there are differences between IBS and UC patients in the role of physical and psychological factors in QOL and emphasize the importance of cognitive processes in IBS.     

炎症性肠病的基因学诊断

炎症性肠病（IBD）是一种涉及多基因的复杂疾病,传统的IBD的诊断方法是依靠病史和临床表现、结肠镜检、钡剂灌肠、病理检查及实验室检查等综合性诊断,但难以满足病因学及亚型分类,随着IBD易感基因的发现,采用血清免疫学和基因标志物来诊断和鉴别IBD与其他疾病以及评估临床病程及预后等成为可能。现将IBD易感基因以及临床应用作一综述。     

重新审视肠易激综合征

肠易激综合征(IBS)作为新近日益受到重视的疑难疾病,以其固有的复杂性冲击着西医传统的疾病观。以其高发病率和对人类生活质量的严重影响促使复杂性探索研究在医学中应用并促进东方整体观在现代医学中复兴,从而用于解决诸如肠易激综合征等的医学疑难。重新审视IBS这种典型的心身相关特点显著的功能性疾病,促进对医学疑难问题研究和认识中观念的更新,特别是促进整体观在医学研究中的深化,从而有助于寻找到更有效的医学疑难病的解决方法。     

炎症性肠病与儿童孤独症谱系障碍的关系

孤独症谱系障碍(Autism spectrum disorder, ASD)是一类神经发育障碍疾病, 除了社交障碍、重复刻板行为等核心症状外, 几乎一半的ASD患者出现了胃肠道症状, 表现出炎症性肠病(inflammatory bowel disease, IBD)。IBD是一种与免疫失调、肠道微生物组改变、微量营养吸收不良和贫血相关的慢性疾病, 这些特征可能是ASD相关的围产期因素。患有ASD的儿童很可能被诊断出患有包括IBD在内的共生疾病。通过治疗IBD来缓解或干预儿童ASD的治疗方式已经初见成效, 未来可以开展更多临床实验来证实IBD治疗的有效性和安全性。对IBD与ASD、父母IBD和儿童ASD之间关系的探究可以为儿童ASD的病因研究、早期筛查及临床治疗提供进一步的证据支持。