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目的分析武汉地区结直肠癌的临床病理特征及发病特点。方法回顾性分析1998年至2013年在武汉市第八医院收治的1 998例结直肠癌临床及病理资料,比较其主要症状、性别、年龄、肿瘤部位、组织类型、病理分级及临床病理分期的差异。结果本组最常见症状为血便及大便次数增多,好发部位主要位于直肠,组织学类型以管状腺癌腺癌为主,淋巴结转移与肿瘤的分化程度、侵袭程度及TNM分期有关。结论武汉地区男性结直肠癌的发病率显著高于女性,老年人仍是结直肠癌的高发人群,但青壮年也占相当大的比例。大部分患者就诊时已是中晚期。  相似文献   
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Objectives

To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers.

Patients and Methods

The Return of Actionable Variants Empirical (RAVE) Study investigates outcomes following the return of pathogenic/likely pathogenic (P/LP) variants in 68 disease-related genes. The study was initiated in December 2016 and is ongoing. Targeted sequencing was performed in 2533 individuals with hyperlipidemia or colon polyps. The electronic health records (EHRs) of participants carrying P/LP variants in 36 cardiovascular disease (CVD) genes were manually reviewed to ascertain the presence of relevant traits. Clinical outcomes, health care utilization, family communication, and ethical and psychosocial implications of disclosure of genomic results are being assessed by surveys, telephone interviews, and EHR review.

Results

Of 29,208 variants in the 68 genes, 1915 were rare (frequency <1%) and putatively functional, and 102 of these (60 in 36 CVD genes) were labeled P/LP based on the American College of Medical Genetics and Genomics framework. Manual review of the EHRs of participants (n=73 with P/LP variants in CVD genes) revealed that 33 had the expected trait(s); however, only 6 of 45 participants with non–familial hypercholesterolemia (FH) P/LP variants had the expected traits.

Conclusion

Expected traits were present in 13% of participants with P/LP variants in non-FH CVD genes, suggesting low penetrance; this estimate may change with additional testing performed as part of the clinical evaluation. Ongoing analyses of the RAVE Study will inform best practices for genomic medicine.  相似文献   
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The purpose of this Special Communication is to summarize guidelines and recommendations stemming from an expert panel convened by the National Institutes of Health, National Center for Medical Rehabilitation Research (NCMRR) for a workshop entitled The Future of Medical Rehabilitation Clinical Trials, held September 29-30, 2016, at the NCMRR offices in Bethesda, Maryland. The ultimate goal of both the workshop and this summary is to offer guidance on clinical trials design and operations to the medical rehabilitation research community, with the intent of maximizing the effect of future trials.  相似文献   
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Background

Colorectal cancer (CRC) early detection improves health outcomes; screening programmes invest efforts in initiating invitations to target populations to be tested. Enhanced adherence is essential for reduction of morbidity and mortality. Participation rates in Israel are still relatively low.

Objective

To explore lay views regarding the concept of receiving material incentives in exchange for enhanced adherence to CRC screening.

Research design

Qualitative study. Between November 2009 and February 2010 six focus group discussions were carried out in two urban, middle and low socio‐economic status primary care clinics in a Northern city in Israel. Participants were eligible individuals for CRC screening, aged 50–68 (= 24). Data analysis followed the principles of grounded theory, supported by qualitative software.

Results

Participants found administering incentives in exchange for CRC screening inappropriate on rational and moral grounds. They valued their relations with the medical team and the health system more than the potential gain expected. Individuals eligible for CRC screening perceived themselves as responsible for their health, admitting difficulties in realizing this responsibility. Incentives were reported unsuitable for solving reported screening difficulties and a potential harm to the doctor–patient relationship.

Conclusions

Focus group participants expressed an unconventional voice towards the use of material incentives. They pointed to the need for focused support of health behaviour change and valued their autonomy. While a proportion of the invitees in the target population see the importance of screening and appreciate the HMO''s initiative to invite them for testing, they also expressed their need for support from the HMO in realizing the recommended health behaviour.  相似文献   
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