ABSTRACT
Objective To discuss the signficance using nutrtional risk screening (NRS) to evaluate nutritional status in patients with severe stroke .In the meantime compare the clinical application value between enteral and parenteral nutritional support therapies .Methods A retrospective survey was adopted to analyze the nutritional status in 267 patients with severe stroke .Their nutritional statuses were evaluated by NRS 2002 nutrtional risk screening . Patients were divided into three groups ,including enteral nutrition (EN) group ,parenteral nutrition (PN) group and EN+ PN group based on the type of their nutritional support .By comparing changes of indicators before and after of adiministration of nutritional support ,the clinical efficacy and adverse reactions for each group were evaluated .Results In EN group and EN+ PN group total protein and albu-min level were significantly increased after 10 days nutritional support (P<0 .05) .Small changes in patients'liver and kidney function indices in EN group .The incidence of co-infection was 16 .67% in EN group ,which was lowest among three groups . Conclusion Enteral nutrition support could not only improve the nutritional status of patients with severe stroke ,but also could reduce the incidence of infections and gastrointestinal complications .It significantly improves the prognosis of patients .
ABSTRACT
Background and purpose: BRCA1 and BRCA2 mutation carriers have a high lifetime risk of developing breast and ovarian cancer. Through genetic counseling, mutation carriers can take the appropriate measures to reduce such cancer risk. At present, almost all related studies were conducted in Caucasian, while, the studies in Chinese population were rare. This study aimed to investigate the risk of breast cancer in BRCA1 and BRCA2 mutation carriers in Chinese Han population. Methods:Twenty unrelated families with BRCA1 or BRCA2 mutations were re-viewed. Kaplan-Meier analyses were used to estimate the cumulative risks of unilateral breast cancer and contralateral breast cancer for female BRCA1 and BRCA2 mutation carriers. Results:Breast cancer risk to 70 years (penetrance) was 67.2%(sx 0.100) for BRCA1 and 76.8%(sx 0.079) for BRCA2, respectively. Different from BRCA1 mutation carriers, the cumulative incidence of breast cancer in BRCA2 mutation carriers remained increasing after 70 years, reaching 93.1%at age 80. The 10-and 20-year risk for contralateral breast cancer was 19.4%(sx 0.089) and 50.3%(sx 0.155) for BRCA1/2 mutation carriers. Conclusion:BRCA1 and BRCA2 mutation carriers in Chinese Han population have a high risk of developing breast cancer. Thus, it has great clinical signiifcance to test mutations in BRCA1/2 genes in Chinese high-risk population.
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.</p><p><b>METHODS</b>A total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.</p><p><b>RESULTS</b>Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.</p><p><b>CONCLUSION</b>The TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.</p>