Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

PurposeThe knowledge used to classify genetic variants is continually evolving, and the classification can change on the basis of newly available data. Although up-to-date variant classification is essential for clinical management, reproductive planning, and identifying at-risk family members, there is no consistent practice across laboratories or clinicians on how or under what circumstances to perform variant reinterpretation.MethodsWe conducted exploratory focus groups (N = 142) and surveys (N = 1753) with stakeholders involved in the process of variant reinterpretation (laboratory directors, clinical geneticists, genetic counselors, nongenetic providers, and patients/parents) to assess opinions on key issues, including initiation of reinterpretation, variants to report, termination of the responsibility to reinterpret, and concerns about consent, cost, and liability.ResultsStakeholders widely agreed that there should be no fixed termination point to the responsibility to reinterpret a previously reported genetic variant. There were significant concerns about liability and lack of agreement about many logistical aspects of variant reinterpretation.ConclusionOur findings suggest a need to (1) develop consensus and (2) create transparency and awareness about the roles and responsibilities of parties involved in variant reinterpretation. These data provide a foundation for developing guidelines on variant reinterpretation that can aid in the development of a low-cost, scalable, and accessible approach.     

布地奈德吸入对儿童咳嗽变异性哮喘的疗效分析

目的：探讨布地奈德吸入对儿童咳嗽变异性哮喘的疗效。方法：回顾性研究2013年1月～2014年1月本院儿科收治的变异性哮喘儿童患者82例,随机分为实验组和对照组,每组41例,对照组给予口服咳必清等常规镇咳药物治疗,实验组在对照组用药基础上加用布地奈德气雾吸入剂治疗,治疗周期为4周,观察记录两组临床治疗情况,如治疗后缓解时间和咳嗽消失时间。结果：经过4周治疗,实验组咳嗽缓解时间及咳嗽消失时间均短于对照组,差异具有统计学意义（P＜0.05）;治疗后,实验组、对照组的总有效率分别为94.34%和76.92%,实验组总有效率明显高于对照组,差异具有统计学意义（P＜0.05）。结论：加用布地奈德吸入治疗儿童变异性哮喘效果明显,安全,值得临床推广。     

Successful Harvest of Free Fibula Flap in a Rare Anomalous Variant of the Peroneal Artery

We present a case of successful harvest and anastomosis of a free fibula flap with 15 cm of bone where the peroneal artery was only 1.0 cm long and situated in the distal 1/3rd of the fibula.     

高频超声对甲状腺弥漫硬化型乳头状癌的诊断价值

目的:探讨高频超声对甲状腺弥漫硬化型乳头状癌(DSV)的诊断与鉴别诊断价值。方法:2006-2010年共搜集DSV13例,所有病例均经手术后病理证实,分析声像图特征。结果:13例DSV甲状腺内部呈弥漫性不均匀改变和沙粒状钙化,无肿块及结节表现11例,2例伴有结节性甲状腺肿,颈部淋巴结转移9例。结论::DSV多发生在年轻女性,高频超声声像图表现为甲状腺内部回声弥漫性不均匀且伴有广泛沙粒状钙化,甲状腺内无明显肿块及结节,应与桥本甲状腺炎、亚急性甲状腺炎相鉴别。     

不同变异类型忍冬花蕾绿原酸含量分析比较△

目的:测定山东产忍冬13个变异类型花蕾绿原酸含量,为选育优良品种奠定基础。方法:在同一条件下采集、干燥不同变异类型二白期花蕾,采用高效液相色谱法测定绿原酸含量。结果:在所测定的13个变异类型中,其花蕾绿原酸含量相差悬殊,含量为0.80%～2.54%。结论:选育优良品种是提高忍冬花蕾绿原酸含量的有效途径,并且潜力巨大。     

小儿咳嗽变异型哮喘的误诊分析

目的：探讨小儿咳嗽变异型哮喘（CVA）的误诊情况。方法：回顾性分析2006年1月至2008年1月间在我院曾被误诊的小儿咳嗽变异性哮喘患儿42例的临床资料,分析其临床特点、误诊原因及预防措施。结果：院外误诊35例,本院门诊误诊5例,病房误诊2例。误诊时间为15d～1a。误诊为支气管炎18例（42．86％）,急性上呼吸道感染10例（23．81％）,扁桃体炎6例（14．29％）,慢性咽炎4例（9．52％）,百日咳、支原体肺炎、肺门淋巴结结核、支气管异物各1例（2．38％）。结论：小儿咳嗽变异型哮喘临床症状不典型,临床医师需掌握其诊断要点,避免误诊。     

Primary pulmonary mucinous (colloid) adenocarcinoma

We report a rare case of primary pulmonary mucinous (colloid) adenocarcinoma (MC) in a 79-yearold man. A computed tomographic scan of the chest showed a round, well-defined nodule in his right upper lobe that enlarged slowly over 12 months from 1.7 cm to 2.0 cm. Wedge resection of the right upper lobe was performed to obtain a definitive diagnosis by video-assisted thoracoscopic surgery. Macroscopically, the cut surface showed that the nodule was well demarcated and filled with a yellowish-white gelatinous substance. The postoperative histological diagnosis was primary pulmonary MC.