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find Keyword "报告解读" 2 results
  • 基于美国医学遗传学和基因组学会指南的基因检测报告解读

    随着精准医学的进一步开展,基因检测如雨后春笋般涌现,但检测报告质量却良莠不齐,亟待标准来规范。2015年,美国医学遗传学和基因组学会(American College of Medical Genetics and Genomics,ACMG)发布了关于测序技术在临床上应用的专业标准和指南,希望能为变异数据评级提供一个相对科学的标准。但2016年,Amendola等对比了美国9个中心实验室的测序解读结果,发现ACMG指南在具体实施过程中仍存在许多问题。所有实验室均通过该指南进行变异结果的判断,但其评级的相符率仅有34%。而对于ACMG指南的理解不同,是导致变异等级判断结论不一致的主要原因。作为临床医生,基因检测报告的解读是不可或缺的基本功,不仅要向实验室提供准确和完整的临床信息,也需要了解及掌握该指南,知道如何准确使用基因检测提供的证据来进行后续的诊断和治疗决策。现将基于ACMG指南,对3例癫痫患者基因检测报告进行解读,期望能更加形象具体地阐释该指南,使更多的临床医生更好的理解及运用指南。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • Epidemiological trends and implications of breast cancer prevention and control in China and the world: an interpretation of the Global Cancer Statistics Report 2018–2022

    ObjectiveTo summarize the burden and epidemiological trends of global breast cancer and China’s breast cancer according to the 2018, 2020 and 2022 versions of the global cancer statistics report jointly prepared by the International Cancer Research Institute of the World Health Organization and the American Cancer Society. MethodThe data of global and Chinese breast cancer in the 2018, 2020, 2022 edition of the Global Cancer Statistical Report were analyzed. ResultsIn 2022, the global new breast cancer was estimated to be about 2.309 million, ranking the second. The crude incidence rate of breast cancer was 54.1 per 100 000, and the age standardized incidence rate (ASIR) was 46.8 per 100 000. In 2022, the global breast cancer death would be about 666 000, ranking the fourth, with the crude mortality rate of 11.3 per 100 000, age standardized mortality rate (ASMR) was 12.6 per 100 000. The incidence rate and mortality rate of breast cancer vary greatly between regions/countries, and were related to the human development index; the crude incidence rate was high in economically developed regions, and the crude mortality rate was relatively increasing, but the ASMR was low. In economically underdeveloped areas, the crude incidence rate was relatively low, and the crude mortality rate was relatively decreasing, but ASMR was high. In 2022, the number of breast cancer patients in China would be 357 000, ranking the fourth, with a crude incidence rate of 51.7 per 100 000 and an ASIR of 33.0 per 100 000. In 2022, there would be about 75 000 deaths from breast cancer in China, ranking the seventh, with a crude mortality rate of 10.9 per 100 000 and an ASMR of 6.1 per 100 000. From 2018 to 2022, the incidence rate and mortality rate of breast cancer in China show a downward trend. ConclusionsBoth the world and China are facing a severe burden of breast cancer, and breast cancer prevention and treatment has a long way to go.

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