• 【BRCA1和BRCA2种系突变携带者的预防标本中的偶然癌,重点是输卵管病变:6例病例报告并复习文献。】 复制标题 收藏 收藏
    DOI:10.1097/01.pas.0000202161.80739.ac 复制DOI
    作者列表:Carcangiu ML,Peissel B,Pasini B,Spatti G,Radice P,Manoukian S
    BACKGROUND & AIMS: :The identification of germ-line mutations in 2 genes (BRCA1 and BRCA2) responsible for the majority of hereditary ovarian cancers has led an increasing number of women carriers of these mutations to undergo prophylactic oophorectomy (PO) to reduce their risk of subsequent ovarian carcinoma. A large number of unexpected, clinically occult neoplasms are thus being discovered. Up to December 2004, the Medical Genetics Service of the National Cancer Institute in Milan, Italy, has tested 756 probands from breast and/or ovarian cancer families for BRCA1 and BRCA2 germ-line mutations. Molecular screening of family members led to the identification of 344 female carriers of BRCA1 (239) or BRCA2 (105) germ-line mutations. Of the 186 potentially eligible women (37 of whom had tested positive for BRCA1 and 13 for BRCA2 mutation), 50 (26.8%) chose to undergo PO. Six clinically occult primary gynecologic malignancies (2 stage IIIC serous carcinomas of the ovary, 3 in situ serous carcinomas of the fallopian tube, and 1 stage IIB invasive serous carcinoma of the fallopian tube) and 1 occult ovarian metastasis from breast carcinoma were identified in the PO specimens of 7 women (all BRCA1 mutated). Four of the patients with occult primary gynecologic cancers are alive without disease 129, 87, 38, and 7 months after PO, respectively. One of the 2 patients with primary ovarian cancer and the single patient with tubal invasive carcinoma are alive with recurrent disease 83 and 20 months after PO, respectively. In addition, one of the patients whose PO specimen did not show any malignancy presented with stage IIIC tubal carcinoma 77 months after PO. The relatively high number of tubal neoplasms found at PO in this group of patients underlines the linkage between mutation and the risk of developing tubal cancer, and stresses the need to include removal of the entire tubes at the time of PO and of thoroughly evaluating the specimens at the microscopic level. The upstaging of all 3 invasive carcinomas after staging surgery, and the late recurrence and persistence of 2 of them despite treatment indicate that small size of the tumors should not preclude therapy.
    背景与目标: :对负责大多数遗传性卵巢癌的2个基因(BRCA1和BRCA2)的种系突变的鉴定,导致越来越多的女性携带这些突变的人进行了预防性卵巢切除术(PO),以降低其患上卵巢癌的风险。因此,发现了大量意想不到的临床隐匿性肿瘤。截至2004年12月,意大利米兰国家癌症研究所的医学遗传学服务已对756个来自乳腺癌和/或卵巢癌家族的先证者进行了BRCA1和BRCA2种系突变测试。家庭成员的分子筛查导致识别出BRCA1(239)或BRCA2(105)种系突变的344个雌性携带者。在186名可能符合条件的妇女中(其中37人的BRCA1测试呈阳性,13人的BRCA2突变检测为阳性),其中50人(26.8%)选择接受PO。在临床中确定了6例临床隐匿的原发性妇科恶性肿瘤(2例卵巢IIIC浆液性癌,3例输卵管原位浆液性癌和1例IIB输卵管浸润性浆液性癌)和1例隐匿性卵巢癌卵巢转移。 7名妇女的PO标本(所有BRCA1突变)。分别在PO后129、87、38和7个月,有四名患有隐匿性原发性妇科癌症的患者还活着而没有疾病。 2例原发性卵巢癌患者中的1例和输卵管浸润性癌的1例患者在PO后分别存活83个月和20个月。此外,其中一名PO标本未显示任何恶性肿瘤的患者在PO后77个月出现IIIC期输卵管癌。该组患者在PO中发现的相对较多的输卵管肿瘤强调了突变与发生输卵管癌的风险之间的联系,并强调需要在PO时切除整个管并彻底评估标本在微观层面上。分期手术后所有3种浸润性癌的分期升级,并且尽管有治疗,但其中2种仍较晚复发和持续存在,这表明较小的肿瘤不应排除治疗的可能性。
  • 【腹腔镜胆囊切除术后偶发胆囊癌:发生率,处理和预后。】 复制标题 收藏 收藏
    DOI:10.1111/ajco.13308 复制DOI
    作者列表:Wu X,Li B,Zheng C,Liu W,Hong T,He X
    BACKGROUND & AIMS: AIMS:Although incidental gallbladder cancer (IGBC) diagnosed after laparoscopic cholecystectomy (LC) is not rare, its incidence, management, and prognosis are still unclear and controversial. The present study aimed to increase the understanding of IGBC after LC in the medical community. METHODS:Patients with IGBC treated at our institution between January 2001 and December 2018 were enrolled. Data collected included demographic characteristics, treatment pattern, pathological information, and prognoses. We compared the characteristics of patients with different prognoses and calculated the cumulative overall survival rate and mean survival period for IGBC. RESULTS:The cohort comprised 26 patients with a mean age of 66.4 ± 12.5 years. All patients were diagnosed with IGBC via postoperative pathology. Three patients underwent radical reoperation. As of June 2019, 26 patients were followed for a mean of 31.6 ± 29.6 months. Fourteen patients died during the follow-up period, and 12 survived without recurrence. The mean survival duration was 50.5 months. The 1-, 3-, and 5-year cumulative overall survival rates of the entire cohort were 79.8, 49.0, and 40.8%, respectively. IGBC patients with T1a stage had significantly longer survival than those with T1b or more advanced stages (96.1 vs 32.6 months, P = .006). CONCLUSIONS:IGBC after LC is diagnosed in 0.2% of patients, accounting for 5.4% of all gallbladder cancer cases. IGBC patients with T1a stage had significantly longer survival than those with T1b or more advanced stages. Simple cholecystectomy is probably acceptable only in T1a lesions.
    背景与目标: 目的:尽管在腹腔镜胆囊切除术(LC)后诊断出的偶发胆囊癌(IGBC)并不罕见,但其发病率,治疗和预后仍不清楚和有争议。本研究旨在增加医学界对LC后IGBC的了解。
    方法:纳入2001年1月至2018年12月在我院接受IGBC治疗的患者。收集的数据包括人口统计学特征,治疗模式,病理信息和预后。我们比较了具有不同预后的患者的特征,并计算了IGBC的累积总生存率和平均生存期。
    结果:该队列包括26名患者,平均年龄为66.4±12.5岁。所有患者均经术后病理诊断为IGBC。三例患者接受了彻底的再次手术。截至2019年6月,共随访26例患者,平均31.6±29.6个月。在随访期间有14例患者死亡,其中12例幸免于难。平均生存期为50.5个月。整个队列的1年,3年和5年累计总生存率分别为79.8、49.0和40.8%。 IGBC T1a期患者的生存期明显高于T1b或更高晚期的患者(96.1 vs 32.6月,P = .006)。
    结论:0.2%的患者被诊断为LC后IGBC,占所有胆囊癌病例的5.4%。 IGBC T1a期患者的生存期显着长于T1b或更高晚期患者。仅在T1a病变中可能接受简单的胆囊切除术。
  • 【在患有原发性前列腺癌的患者中偶然发现肺腺癌,表现为18F-氟氯洛维汀PET / CT上的前纵隔肿块。】 复制标题 收藏 收藏
    DOI:10.1097/RLU.0000000000003207 复制DOI
    作者列表:Abiodun-Ojo OA,Akintayo AA,Sica GL,Alemozaffar M,Schuster DM
    BACKGROUND & AIMS: :F-fluciclovine is a PET radiotracer approved for detection of recurrent prostate cancer, with utility in other malignancies being investigated. We present the case of a 71-year-old man with high-risk primary prostate cancer (Gleason score 9, prostate-specific antigen 34 ng/mL) and newly diagnosed lung adenocarcinoma. As part of a clinical trial (NCT03081884), preoperative F-fluciclovine PET/CT showed localized abnormal uptake in the prostate gland with extracapsular extension. Additionally, an incidental anterior mediastinal mass measuring 2.2 × 1.8 cm demonstrated abnormal radiotracer uptake. Biopsy of the mediastinal mass confirmed invasive lung adenocarcinoma with solid and acinar patterns and high programmed death 1 ligand expression.
    背景与目标: :F-fluciclovine是一种PET示踪剂,已被批准用于检测复发的前列腺癌,并正在研究其在其他恶性肿瘤中的应用。我们介绍了一名高危原发性前列腺癌(格里森评分9,前列腺特异性抗原34 ng / mL)和新诊断的肺腺癌的71岁男子的病例。作为临床试验(NCT03081884)的一部分,术前F-flucloclovine PET / CT显示在前列腺内局部异常摄取,并有囊外延伸。此外,偶然的前纵隔肿块尺寸为2.2×1.8 cm,表明放射性示踪剂摄取异常。纵隔肿块的活检证实浸润性肺腺癌具有实体和腺泡模式,并具有高度程序化的死亡1配体表达。
  • 【有关研究中偶然的基因组发现返回的决策所涉及的过程和因素。】 复制标题 收藏 收藏
    DOI:10.1038/gim.2013.140 复制DOI
    作者列表:Klitzman R,Buquez B,Appelbaum PS,Fyer A,Chung WK
    BACKGROUND & AIMS: PURPOSE:Studies have begun exploring whether researchers should return incidental findings in genomic studies, and if so, which findings should be returned; however, how researchers make these decisions-the processes and factors involved-has remained largely unexplored. METHODS:We interviewed 28 genomics researchers in-depth about their experiences and views concerning the return of incidental findings. RESULTS:Researchers often struggle with questions concerning which incidental findings to return and how to make those decisions. Multiple factors shape their views, including information about the gene variant (e.g., pathogenicity and disease characteristics), concerns about participants' well-being and researcher responsibility, and input from external entities. Researchers weigh the evidence, yet they face conflicting pressures, with relevant data frequently being unavailable. Researchers vary in who they believe should decide: participants, principal investigators, institutional review boards, and/or professional organizations. Contextual factors can influence these decisions, including policies governing return of results by institutions and biobanks and the study design. Researchers vary in desires for: guidance from institutions and professional organizations, changes to current institutional processes, and community-wide genetics education. CONCLUSION:These data, the first to examine the processes by which researchers make decisions regarding the return of genetic incidental findings, highlight several complexities involved and have important implications for future genetics research, policy, and examinations of these issues.
    背景与目标: 目的:研究已经开始探索研究人员是否应该返回基因组研究中的偶然发现,如果是,应该返回哪些发现;然而,研究人员如何做出这些决定-涉及的过程和因素-仍未得到充分探索。
    方法:我们采访了28位基因组学研究人员,深入了解了他们的经验和关于偶然发现返回的观点。
    结果:研究人员经常会遇到有关返回哪些偶然发现以及如何做出决定的问题。多种因素影响着他们的观点,包括有关基因变异的信息(例如,致病性和疾病特征),对参与者的福祉和研究人员责任的关注,以及来自外部实体的投入。研究人员权衡了证据,但面临着相互矛盾的压力,经常无法获得相关数据。研究人员在他们认为应该决定的人方面有所不同:参与者,主要研究人员,机构审查委员会和/或专业组织。上下文因素可能会影响这些决策,包括管理机构和生物库回报结果的政策以及研究设计。研究人员在以下方面的愿望各不相同:机构和专业组织的指导,当前机构流程的变更以及社区范围的遗传学教育。
    结论:这些数据是第一个检查研究人员做出有关遗传偶然发现返回结果的决策过程的数据,这些数据突出了所涉及的若干复杂性,并对未来的遗传学研究,政策以及对这些问题的检查具有重要意义。
  • 【完全甲状旁腺切除术后发现偶发性转移性甲状腺癌。】 复制标题 收藏 收藏
    DOI:10.1089/thy.2006.0295 复制DOI
    作者列表:Mazeh H,Divino C,Nagi C,Bleiweiss IJ,Weber K
    BACKGROUND & AIMS: :Papillary microcarcinoma of the thyroid comprises 10-20% of all thyroid malignancies. Most microcarcinomas are slow growing and have a favorable prognosis. Lymph node metastasis caused by thyroid microcarcinoma is uncommon, and distant metastasis to lung or bone is even rarer. Thyroid microcarcinoma with metastasis to a thymic lymph node was not previously reported. We describe a case of incidental 1 mm micropapillary thyroid cancer identified within a thymic lymph node following total parathyroidectomy for secondary hyperparathyroidism.
    背景与目标: :甲状腺乳头状微癌占所有甲状腺恶性肿瘤的10-20%。大多数微癌生长缓慢且预后良好。甲状腺微癌引起的淋巴结转移很少见,远处转移至肺或骨的情况更为罕见。先前尚未报道甲状腺微癌转移至胸腺淋巴结。我们描述了一个病例,该病例在继发于甲状旁腺功能亢进的全甲状旁腺切除术后胸腺淋巴结内发现了一个偶然的1毫米微乳头状甲状腺癌。
  • 【肺转移,上颌偶然发现-病例报告。】 复制标题 收藏 收藏
    DOI:10.4103/IJPM.IJPM_325_19 复制DOI
    作者列表:Tamgadge S,Pereira T,Kale S,Shetty S,Tamgadge A
    BACKGROUND & AIMS: :The aim of this article was to present an asymptomatic lesion with insignificant clinical findings which turned out to be metastatic lesion in the jaws with primary in lung. The most common site of lung metastasis in the orofacial region is the mandible, but in our case it was seen in the maxilla. Metastases to the jaw bones occur in later stages. Hence, a careful examination of patients with jaw bone lesions is strongly suggested. Metastasis to the jaw should be considered while doing oral examination as observed in the current case because such lesions usually develop at terminal stage of cancer.
    背景与目标: :本文的目的是提出一种无症状的病变,临床表现不明显,结果证明是原发于肺部的颌骨转移性病变。下颌骨区域最常见的肺转移部位是下颌骨,但在我们的案例中是在上颌骨中看到的。到下颌骨的转移发生在后期。因此,强烈建议对患有颌骨病变的患者进行仔细检查。如在本例中观察到的那样,在进行口腔检查时应考虑下颌转移,因为这种病变通常在癌症晚期发展。
  • 【细针穿刺细胞学检查(FNAC)的成本效益,并注意观察甲状腺偶然结节。】 复制标题 收藏 收藏
    DOI:10.1007/s40618-020-01254-0 复制DOI
    作者列表:Wong CKH,Liu X,Lang BHH
    BACKGROUND & AIMS: OBJECTIVES:A trial-based comparison of the use of resources, costs and health utility outcomes of fine-needle aspiration cytology (FNAC), and watchful observation for incidental small (< 2 cm) thyroid nodules was performed using data from the randomized controlled trial (RCT). METHODS:Using data from 314 patients, healthcare-related use of resources, costs, health utility, and quality-adjusted life years (QALYs) were estimated at 12 months after first presentation of incidental thyroid nodule(s) on an intention-to-treat basis with adjustment for covariates. Uncertainty about the incremental cost-effectiveness ratio for FNAC versus watchful management at 12 months of follow-up was incorporated using bootstrapping. Multiple imputation methods were used to deal with missing data. RESULTS:FNAC management was associated with greater use of healthcare resources and mean direct healthcare costs per patient (US$542.47 vs US$411.55). Lower mean 12-month QALYs per patient in FNAC was observed in comparison to watchful observation (0.752 versus 0.758). The probability that FNAC management was cost-effective compared with watchful management at a willingness-to-pay threshold of US50,000 per QALY gained was 26.5%. CONCLUSION:Based on 12-month data from RCT, watchful observation appeared cost-saving compared to FNAC in patients with incidental thyroid nodules that have a low-suspicion sonographic pattern and measure between 1.0 and 2.0 cm from healthcare provider perspective. CLINICALTRIALS. GOV IDENTIFIER:NCT02398721.
    背景与目标: 目的:使用随机对照试验的数据对细针穿刺细胞学(FNAC)的资源,成本和健康效用结果的使用进行了基于试验的比较,并观察了偶然发现的小(<2 cm)甲状腺结节的情况(RCT)。
    方法:使用314例患者的数据,在首次提出甲状腺偶发结节后12个月估算了与医疗相关的资源,成本,健康效用和质量调整生命年(QALYs)的使用情况。对待基础进行协变量调整。使用引导程序将FNAC的增量成本效益比与监视管理的不确定性进行了合并(在随访的12个月中)。使用多种插补方法来处理丢失的数据。
    结果:FNAC管理与更多地使用医疗保健资源和每位患者的平均直接医疗保健费用相关(542.47美元对411.55美元)。与观察到的观察结果相比,观察到的每位FNAC患者平均12个月QALY较低(0.752比0.758)。 FNAC管理与注意管理相比在每获得QALY 50,000美元的支付意愿阈值下具有成本效益的概率为26.5%。
    结论:基于RCT的12个月数据,与FNAC相比,对有疑似超声检查且甲状腺功能不佳且从医疗服务提供者角度测量范围在1.0到2.0 cm之间的甲状腺结节患者进行观察观察似乎可以节省成本。临床试验。
    GOV标识符:NCT02398721。
  • 【PET / CT参数可用于区分偶然的良性,恶性前和恶性结肠病变。】 复制标题 收藏 收藏
    DOI:10.1055/a-1084-4723 复制DOI
    作者列表:Budak E,Yanarateş A
    BACKGROUND & AIMS: AIM: The present study evaluates the role of PET parameters pertaining to incidentally detected foci of colorectal uptake (IFCU) on FDG PET/CT in the differentiation of benign, premalignant and malignant lesions. METHODS: This retrospective study included 74 patients. The colonoscopic and histopathological findings were regarded as the reference standards. The results were evaluated on a lesion basis by dividing the lesions into three groups as benign, premalignant and malignant. The maximum standardized uptake value (SUVmax), SUVmean, metabolic tumor volume(MTV) and total lesion glycolysis(TLG) values of the three groups were compared. RESULTS: There were 88 IFCU in a total of 74 patients (27 female, 47 male, mean age 65 years). Of the 88 IFCU, 26 were qualified as benign, 42 as premalignant and 20 as malignant. Malignant + premalignant lesions were found in 62/88 (70.4 %) of the IFCU. The SUVmax of the benign lesions was significantly lower than those of the premalignant and malignant lesions; and SUVmean was lower than that of the malignant lesions. The MTV of the malignant lesions was significantly higher than that of the premalignant and benign lesions; and TLG was higher than that of the premalignant lesions. The optimum cut-off value in differentiating between the malignant and non-malignant lesions was 9.15 for SUVmax, 5.05 for SUVmean, 4.7 for MTV and 30.25 for TLG. CONCLUSION: PET parameters can guide the differentiation of benign, premalignant and malignant lesions with IFCU. Besides, patients with IFCU should undergo further evaluation due to high probability of premalignant and malignant lesions. :ZIEL:  Die vorliegende Studie bewertet die Rolle von PET-Parametern im Zusammenhang mit zufällig detektierten Herden der kolorektalen Aufnahme (IFCU) im FDG-PET/CT zur Differenzierung von benignen, prämalignen und malignen Läsionen. METHODEN: In diese retrospektive Studie wurden 74 Patienten eingeschlossen. Die koloskopischen und histopathologischen Befunde galten als Referenzstandards. Die Ergebnisse wurden auf Basis der Läsionen ausgewertet, die in drei Gruppen in benigne, prämaligne und maligne Läsionen eingeteilt wurden. Der maximale Standardized Uptake Value (SUVmax), der SUVmean, das metabolische Tumorvolumen (MTV) und die Gesamtglykolyse des Tumors (TLG) wurden in den drei Gruppen verglichen. ERGEBNISSE: Insgesamt 74 Patienten (27 Frauen, 47 Männer, Durchschnittsalter 65 Jahre) hatten 88 IFCU. Von den 88 IFCU wurden 26 als gutartig, 42 als prämaligne und 20 als maligne eingestuft. Maligne und prämaligne Läsionen wurden in 62/88 (70,4%) der IFCUs gefunden. Der SUVmax bei benignen Läsionen war signifikant niedriger als bei prämalignen und malignen Läsionen, und der SUVmean war niedriger als bei malignen Läsionen. Das MTV bei malignen Läsionen war signifikant höher als bei prämalignen und benignen Läsionen, und der TLG war höher als bei prämalignen Läsionen. Der optimale Cut-off-Wert zur Differenzierung von malignen und nicht-malignen Läsionen betrug 9,15 für SUVmax, 5,05 für SUVmean, 4,7 für MTV und 30,25 für TLG. SCHLUSSFOLGERUNG: PET-Parameter können bei IFCU die Differenzierung von benignen, prämalignen und malignen Läsionen stützen. Abgesehen davon sollten Patienten mit IFCU aufgrund der hohen Wahrscheinlichkeit für prä- und maligner Läsionen weiter untersucht werden.
    背景与目标: 目的:本研究评估与FDG PET / CT上偶然检测到的结直肠摄取灶(IFCU)有关的PET参数在良性,恶性和恶性病变鉴别中的作用。
    方法:这项回顾性研究纳入了74例患者。将结肠镜检查和组织病理学发现作为参考标准。通过将病变分为良性,恶性前和恶性三类,在病变的基础上评估结果。比较了三组的最大标准摄取值(SUVmax),SUVmean,代谢肿瘤体积(MTV)和总病变糖酵解(TLG)值。
    结果:74例患者中有88例IFCU(27例女性,47例男性,平均年龄65岁)。在88例IFCU中,26例为良性,42例为恶性前,20例为恶性。 IFCU的62/88(70.4%)发现了恶性癌前病变。良性病变的SUVmax明显低于癌前病变和恶性病变。 SUVmean低于恶性病变。恶性病变的MTV显着高于癌前病变和良性病变。 TLG高于癌前病变。区分恶性和非恶性病变的最佳截止值分别为SUVmax为9.1​​5,SUVmean为5.05,MTV为4.7和TLG为30.25。
    结论:PET参数可以指导IFCU对良,恶性和恶性病变的鉴别。此外,由于存在癌前和恶性病变的高可能性,IFCU患者应接受进一步评估。
    :ZIEL:Roll Roll Roll Roll Roll Roll PET-Parametern im Zusammenhang mitzufälligdetektierten Herden der kolorektalen Aufnahme(IFCU)im FDG-PET / CT zur Differenzierung von benignenen,prämalignenund malign。
    Methoden:在死后复活的Studie wurden 74 Patienten中精神病患者。死刑和组织病理学参照标准。死于基础的死亡,死于贝尼涅的德雷·格鲁彭(Drei Gruppen),死于和平与恶性。最高标准摄取值(SUVmax),平均摄取量(SUVmean),肿瘤代谢物(MTV)和肿瘤生长激素(TLG)被感染。
    紧急情况:BInsgesamt 74 Patienten(27 Frauen,47Männer,Durchschnittsalter 65 Jahre)孵化了88 IFCU。 Von den 88 IFCU wurden 26岁gutartig,42岁prämaligne和20岁maligne eingestuft。在62/88(70.4%)的IFCU中,Maligne和prämaligneLäsionen受伤了。 SUVmax bei benignenLäsionen战争标志着niedriger als beiprämalignen和malignenLäsionen,以及SUVmean war niedriger als bei malignenLäsionen。 Das MTV bei malignenLäsionen战争标志着häherals beiprämalignen和benignenLäsionen,以及TLG warhöherals beiprämalignenLäsionen。最佳替代品是在SUVmax上的9.15 f,最大SUV上的5.00 f,在MTV上的4.7 f,在MTV上的5.7 f,以及TLG的30.25的危险。
    SCHLUSSFOLGERUNG:PET参数在IFCU上的性能与性能有所不同。医院的病患要从医院的病房中取出来。
  • 【返回基因组医学中的偶然发现:测量患者的价值-研发一种用于测量下一代测试(IMPRINT)信息偏好的工具。】 复制标题 收藏 收藏
    DOI:10.1038/gim.2013.63 复制DOI
    作者列表:Bennette CS,Trinidad SB,Fullerton SM,Patrick D,Amendola L,Burke W,Hisama FM,Jarvik GP,Regier DA,Veenstra DL
    BACKGROUND & AIMS: PURPOSE:Little is known about the factors that influence patients' preferences for the return of incidental findings from genome sequencing. This study identified attributes of incidental findings that were important to patients and developed a discrete-choice experiment instrument to quantify patient preferences. METHODS:An initial set of key attributes and attribute levels was developed from a literature review and in consultation with experts. The attributes' salience and communication were refined using focus group methodology (n = 12) and cognitive interviews (n = 6) with patients who had received conventional genetic testing for familial colorectal cancer or polyposis syndromes. The attributes and levels used in the hypothetical choices presented to participants were identified using validated experimental design techniques. RESULTS:The final discrete-choice experiment instrument incorporates the following attributes and levels: lifetime risk of disease (5, 40, 70%); disease treatability (medical, lifestyle, none); disease severity (mild, moderate, severe); carrier status (yes, no); drug response likelihood (high, moderate, none); and test cost ($250, $425, $1,000, $1,900). CONCLUSION:Patient preferences for incidental genomic findings are likely influenced by a complex set of diverse attributes. Quantification of patient preferences can inform patient-provider communication by highlighting the attributes of incidental findings that matter most to patients and warrant further discussion.
    背景与目标: 目的:关于影响患者偏爱从基因组测序中获得偶然发现的因素的了解甚少。这项研究确定了对患者很重要的偶然发现的属性,并开发了一种离散选择的实验工具来量化患者的喜好。
    方法:通过文献综述并与专家协商,初步建立了关键属性和属性级别的初始集合。使用焦点组方法(n = 12)和认知访谈(n = 6)对接受了家族性结直肠癌或息肉病综合征常规基因检测的患者的属性的显着性和沟通进行了细化。使用经过验证的实验设计技术确定了呈现给参与者的假设选择中使用的属性和水平。
    结果:最终的离散选择实验仪器具有以下属性和水平:终身疾病风险(5%,40%,70%);疾病可治疗性(医疗,生活方式,无);疾病严重程度(轻度,中度,重度);运营商状态(是,否);药物反应可能性(高,中,无);和测试费用($ 250,$ 425,$ 1,000,$ 1,900)。
    结论:偶然的基因组发现的患者偏好可能受到一组复杂的不同属性的影响。对患者偏爱的量化可以通过突出显示对患者最重要的偶然发现的属性,从而促进患者与提供者之间的交流,从而值得进一步讨论。
  • 【在三尖瓣置换术中通过术中经食管超声心动图偶然发现保留的左心房导管:病例报告。】 复制标题 收藏 收藏
    DOI:10.1097/MD.0000000000020058 复制DOI
    作者列表:Pyeon T,Bae HB,Choi JI,Kim T,Kim J
    BACKGROUND & AIMS: RATIONALE:A cardiac foreign body can cause thrombosis or infection, but sometimes it may not cause any symptoms in a patient. The diagnosis is mainly performed using a radiological examination. Especially, ultrasound is useful not only for detecting the foreign body but also for hemodynamic findings. However, the disadvantage of ultrasound is that it cannot be used where shadows are generated because of poor permeability. The transesophageal echocardiography (TEE) is superior to transthoracic echocardiography (TTE) for identifying posterior cardiac structures because the probe is located in the esophagus behind the heart. Here, we report on the incidental finding of a foreign body in the left atrium through TEE during cardiac surgery. It did not cause any symptoms or signs for 20 years. PATIENT CONCERNS:A 75-year-old female patient with severe tricuspid regurgitation underwent tricuspid valve replacement (TVR) under general anesthesia. She had a history of mitral valve replacement (MVR) and tricuspid annuloplasty surgery 20 years ago. DIAGNOSIS:A hyper-echoic floating intracardiac foreign body was observed in the left atrium during TEE examination. It was not detected in the preoperative imaging studies such as X-ray, computed tomography, TTE. INTERVENTIONS:The cardiac foreign body found using TEE was visually confirmed through an incision in the left atrium. A long and thin foreign body was located in the right upper pulmonary vein to the left atrium, which was considered to be a left atrial catheter used during the MVR surgery performed 20 years ago. After removing the foreign body, the planned TVR operation proceeded. OUTCOMES:After removing the intracardiac foreign body and TVR, the patient was admitted into the intensive care unit followed by the general ward as planned, and discharged without any complications. LESSONS:TEE was very useful for diagnosing a foreign body in the posterior part of the heart. TEE performed during the perioperative period should be performed beyond the level of re-confirming the findings of TEE performed prior to surgery. If a retained catheter is detected, it may be appropriate to remove it considering the risk of complications.
    背景与目标: 理由:心脏异物可能导致血栓形成或感染,但有时可能不会引起患者任何症状。诊断主要使用放射学检查进行。特别地,超声不仅可用于检测异物,而且可用于血液动力学发现。但是,超声波的缺点是由于渗透性差,不能在产生阴影的地方使用超声波。经食道超声心动图(TEE)优于经胸超声心动图(TTE)来识别心脏后部结构,因为该探头位于心脏后面的食道中。在这里,我们报告在心脏手术期间通过TEE在左心房偶然发现异物的情况。 20年来没有引起任何症状或体征。
    患者注意事项:一名75岁的女性三尖瓣反流严重,在全身麻醉下接受了三尖瓣置换术(TVR)。她在20年前有二尖瓣置换术(MVR)和三尖瓣瓣环成形术手术的历史。
    诊断:TEE检查期间在左心房观察到高回声的漂浮性心内异物。术前影像学检查(如X射线,计算机断层扫描,TTE)未检测到。
    干预措施:通过TEE发现的心脏异物通过左心房切口视觉确认。一个长而稀的异物位于右心房的左心房右肺静脉,这被认为是20年前进行MVR手术时使用的左心房导管。清除异物后,计划进行的TVR操作继续进行。
    结果:去除心内异物和TVR后,患者被送入重症监护病房,随后按计划进入普通病房,出院无任何并发症。
    教训:TEE对于诊断心脏后部的异物非常有用。围手术期进行的TEE的检查应超出再次确认术前进行TEE的检查结果的水平。如果检测到保留的导管,考虑到并发症的风险,将其移除可能是合适的。
  • 【统计模型可以确定哪些因素可预示CT上出现肺结节的患者进行适当的随访。】 复制标题 收藏 收藏
    DOI:10.1016/j.ejrad.2020.109062 复制DOI
    作者列表:Mortani Barbosa EJ Jr,Kelly K
    BACKGROUND & AIMS: PURPOSE:To assess the performance of statistical modeling in predicting follow-up adherence of incidentally detected pulmonary nodules (IPN) on CT, based on patient variables (PV), radiology report related variables (RRRV) and physician-patient communication variables (PPCV). METHODS:200 patients with IPN on CT were retrospectively identified and randomly selected. PV (age, gender, smoking status, ethnicity), RRRV (nodule size, patient context, whether follow-up recommendations were provided) and PPCV (whether referring physician documented IPN and ordered follow-up on the electronic medical record) were recorded. Primary outcome was whether patients received appropriate follow-up within +/- 1 month of the recommended time frame. Statistical methods included logistic regression and machine learning (K-nearest neighbors and support vector machine). RESULTS:Adherence was low, with or without recommendations provided in the radiology report (23.4 %-27.4 %). Whether the referring physician ordered follow-up was the dominant predictor of adherence in all models. The following variables were statistically significant predictors of whether referring physician ordered follow-up: recommendations provided in the radiology report, smoking status, patient context and nodule size (FDR logworth of respectively 21.18, 11.66, 2.35, 1.63, p < 0.05). Prediction accuracy varied from 72 % (PV) to 93 % (PPCV, all variables). CONCLUSION:PPCV are the most important predictors of adherence. Amongst all variables, patient context, smoking status, nodule size, and whether the radiologist provided follow-up recommendations in the report were all statistically significant predictors of patient follow-up adherence, supporting the utility of statistical modeling for analytics, quality assurance and optimization of outcomes related to IPN.
    背景与目标: 目的:基于患者变量(PV),放射学报告相关变量(RRRV)和医患沟通变量(PPCV),评估统计模型在预测偶然发现的肺结节(IPN)在CT上的随访依从性方面的性能。
    方法:对200例CT上IPN患者进行回顾性鉴定并随机选择。记录PV(年龄,性别,吸烟状况,种族),RRRV(结节大小,患者情况,是否提供随访建议)和PPCV(是否由主治医师记录IPN并在电子病历上下令进行随访)。主要结局是患者是否在建议的时间范围内/ -1个月内接受了适当的随访。统计方法包括逻辑回归和机器学习(K近邻和支持向量机)。
    结果:坚持率很低,放射学报告中有或没有建议(23.4%-27.4%)。在所有模型中,主治医生是否下令进行随访都是依从性的主要预测指标。以下变量是主治医生是否下令进行随访的统计学上显着的预测指标:放射学报告,吸烟状况,患者情况和结节大小提供的建议(FDR logworth分别为21.18、11.66、2.35、1.63,p <0.05)。预测准确度从72%(PV)到93%(PPCV,所有变量)不等。
    结论:PPCV是最重要的依从性预测指标。在所有变量中,患者背景,吸烟状况,结节大小以及放射科医生是否在报告中提供了随访建议,这些都是患者随访依从性的统计学显着预测因素,从而支持统计模型在分析,质量保证和优化方面的实用性与IPN相关的结果。
  • 【通过常规胆囊切除术获得的偶然肝组织。】 复制标题 收藏 收藏
    DOI:10.1177/1066896918817374 复制DOI
    作者列表:Tunru-Dinh VW,Deshmukh-Rane SA,Wu ML
    BACKGROUND & AIMS: :Background. The hepatic tissue that may occupy specimens from routine cholecystectomies has yet to be studied. Our objectives were to determine the prevalence of hepatic tissue obtained at routine cholecystectomy, to determine whether such hepatic tissue can histologically withstand technical artifacts commonly associated with cholecystectomy, and to determine whether examining such hepatic tissue has diagnostic utility. Materials and Methods. We retrospectively reviewed 50 specimens from routine cholecystectomies that were performed by surgeons who lacked knowledge of our study. All 50 specimens were grossed according to standard protocol, with only limited, nontargeted sampling of the rough nonperitonealized margin, and were received without fixative. Results. Twelve specimens (24.0%) contained hepatic tissue. The hepatic tissue measured up to 44.5-mm long and 1.8-mm wide and contained up to 11 complete portal tracts. Hepatic tissue in 3 specimens satisfied criteria for adequacy established for core biopsies based on number of portal tracts or size. Despite cautery and delayed fixation, all hepatic tissue had surprisingly well-preserved histology. Pathologic findings included nonalcoholic fatty liver disease, von Meyenburg complex, chronic cholestasis, and senescence. Conclusions. The hepatic tissue that accompanies specimens from routine cholecystectomies may be relatively common, can be large, is well preserved, and can harbor diagnostically useful information.
    背景与目标: :背景。可能占据常规胆囊切除术标本的肝组织尚待研究。我们的目标是确定在常规胆囊切除术中获得的肝组织的患病率,确定这种肝组织在组织学上是否能够承受与胆囊切除术通常相关的技术伪影,并确定检查这种肝组织是否具有诊断意义。材料和方法。我们回顾了50例常规胆囊切除术的标本,这些标本是由缺乏对我们的研究知识的外科医生进行的。根据标准方案对全部50个标本进行肉眼观察,仅对非腹膜化的毛限进行有限的非目标采样,并且不使用固定剂即可接收。结果。十二个标本(24.0%)包含肝组织。肝组织长达44.5毫米,宽达1.8毫米,最多包含11条完整的门脉。 3个标本中的肝组织满足了根据门静脉道的数量或大小确定的核心活检组织是否足够的标准。尽管有烧灼和固定延迟,但所有肝组织的组织学都令人惊讶地保存完好。病理结果包括非酒精性脂肪肝,von Meyenburg复合体,慢性胆汁淤积和衰老。结论常规胆囊切除术标本随附的肝组织可能相对常见,可能很大,保存完好并且可以包含诊断上有用的信息。
  • 【偶然学习和记忆食物中的三种基本口味。】 复制标题 收藏 收藏
    DOI:10.1093/chemse/bjh047 复制DOI
    作者列表:Köster MA,Prescott J,Köster EP
    BACKGROUND & AIMS: :Forty three subjects were invited under the pretence that they would take part in an experiment on hunger feelings. They came without having eaten anything that morning and received a standard breakfast containing orange juice, cream cheese on crackers and yoghurt. These products were later (when subjects returned after scoring hunger feelings during the day) used as targets amidst a set of distractors varied by adding or subtracting different amounts of two basic tastes. Orange juice was varied in sweetness and bitterness, cream cheese in sourness and bitterness and yoghurt in sweetness and sourness. The changes were made comparable by using just noticeable differences, determined in preliminary experiments with other subjects, as units of change. Two measurements of memory were compared, an absolute (indicating which were the targets) and a relative one (indicating whether the targets and distractors were more, less or equally pleasant, sweet, sour, bitter or salty as the item eaten at breakfast). Both methods showed incidental learning, but relative memory was superior. Memory differed between tastes and was partly product dependent. These experiments suggest that taste memory is tuned to detect novel and potentially dangerous stimuli rather than to remember features of earlier experienced stimuli with great precision.
    背景与目标: :以假装他们将参加饥饿感实验为主题,邀请了43名受试者。他们那天早上没有吃任何东西,而来的是标准早餐,其中包括橙汁,饼干上的奶油干酪和酸奶。这些产品后来(当受试者在白天获得饥饿感后返回时)被用作目标,这是一组干扰物,这些干扰物通过添加或减去不同量的两种基本口味而变化。橙汁的甜味和苦味各不相同,奶油干酪的酸味和苦味各不相同,酸奶的糖味和酸味各不相同。通过使用与其他对象进行的初步实验中确定的明显差异作为变化单位,可以使这些变化具有可比性。比较了两个记忆测量值,一个绝对值(表明是目标)和一个相对值(表明目标和干扰因素是早餐时吃的东西更多,更少还是同样令人愉快,甜,酸,苦或咸)。两种方法均显示出偶然学习,但相对记忆力更好。记忆力因口味而异,部分取决于产品。这些实验表明,对味觉记忆进行了调整,以检测新颖的和潜在的危险刺激,而不是精确地记住较早经历的刺激的特征。
  • 【体重指数与老年人轻度认知障碍,阿尔茨海默氏病和血管性痴呆的关系。】 复制标题 收藏 收藏
    DOI:10.1007/s12603-010-0113-y 复制DOI
    作者列表:Doruk H,Naharci MI,Bozoglu E,Isik AT,Kilic S
    BACKGROUND & AIMS: OBJECTIVE:To examine the association between body mass index (BMI) and cognitive decline (CD) due to Mild Cognitive Impairment (MCI), Alzheimer's Disease (AD), and Vascular Dementia (VaD). DESIGN AND SETTING:The subjects aged ≥ 65 years were recruited prospectively from the Geriatrics Clinic of Gulhane Medical School, between 2004 and 2008 years. PARTICIPANTS:1302 patients were included in the study. MEASUREMENTS:Cognitive status, clinical diagnosis of CD (MCI, AD, and VaD) and clinical and environmental risk factors were evaluated by comprehensive geriatric assesment. Finally, the subjects were categorized into two groups according to having CD or not. RESULTS:905 (69.5%) subjects were not having CD whereas 397 (30.5%) patients with CD. Of the patients with CD, 140 (10.4%) had MCI, 227 (16.9%) AD, and 30 (2.2%) VaD. After adjustment for confounding with a model for multiple regression analysis, age (OR=1.054; CI:1.027-1.083; p < 0.001) and family history of dementia (OR=1.662; CI:1.038-2.660; p=0.034) were found to be independent risk factors for CD. Also, overweight (OR=0.594; CI:0.370-0.952; p=0.03) and obese (OR=0.396; CI:0.242-0.649; p < 0.001), and high education level (OR=0.640; CI:0.451-0.908; p=0.012) were found to be independent protective factors for CD. CONCLUSIONS:We found the risk of CD decreases in overweight and obese elderly. The results indicate that the primary prevention should not only consider risk factors, but must also take anthropometric data into consideration in order to identify persons at high risk for CD.
    背景与目标: 目的:探讨由于轻度认知障碍(MCI),阿尔茨海默氏病(AD)和血管性痴呆(VaD)引起的体重指数(BMI)与认知下降(CD)的关联。
    设计与地点:年龄≥65岁的受试者是从2004年至2008年间从古尔汉医学院的老年医学诊所前瞻性招募的。
    对象:1302例患者被纳入研究。
    测量:通过全面的老年医学评估来评估认知状态,CD的临床诊断(MCI,AD和VaD)以及临床和环境危险因素。最后,根据是否有CD将受试者分为两组。
    结果:905名(69.5%)患者未患有CD,而397名(30.5%)患者患有CD。在CD患者中,有140名(10.4%)患有MCI,227名(16.9%)AD和30名(2.2%)VaD。用多元回归分析模型进行混淆调整后,发现年龄(OR = 1.054; CI:1.027-1.083; p <0.001)和痴呆症家族史(OR = 1.662; CI:1.038-2.660; p = 0.034)是CD的独立危险因素。此外,超重(OR = 0.594; CI:0.370-0.952; p = 0.03)和肥胖(OR = 0.396; CI:0.242-0.649; p <0.001)和高学历(OR = 0.640; CI:0.451-0.908) ; p = 0.012)是CD的独立保护因子。
    结论:我们发现超重和肥胖的老年人CD降低的风险。结果表明,初级预防不仅应考虑危险因素,而且还必须考虑人体测量学数据,以识别高危人群。
  • 【在COVID-19大流行期间,卒中CTA上偶然发生的与COVID-19相关的肺部顶端发现。】 复制标题 收藏 收藏
    DOI:10.1136/neurintsurg-2020-016188 复制DOI
    作者列表:Kihira S,Schefflein J,Chung M,Mahmoudi K,Rigney B,Delman BN,Mocco J,Doshi A,Belani P
    BACKGROUND & AIMS: BACKGROUND:Authors have noticed an increase in lung apex abnormalities on CT angiography (CTA) of the head and neck performed for stroke workup during the coronavirus disease 2019 (COVID-19) pandemic. OBJECTIVE:To evaluate the incidence of these CTA findings and their relation to COVID-19 infection. METHODS:In this retrospective multicenter institutional review board-approved study, assessment was made of CTA findings of code patients who had a stroke between March 16 and April 5, 2020 at six hospitals across New York City. Demographic data, comorbidities, COVID-19 status, and neurological findings were collected. Assessment of COVID-19 related lung findings on CTA was made blinded to COVID-19 status. Incidence rates of COVID-19 related apical findings were assessed in all code patients who had a stroke and in patients with a stroke confirmed by imaging. RESULTS:The cohort consisted of a total of 118 patients with mean±SD age of 64.9±15.7 years and 57.6% (68/118) were male. Among all code patients who had a stroke, 28% (33/118) had COVID-19 related lung findings. RT-PCR was positive for COVID-19 in 93.9% (31/33) of these patients with apical CTA findings.Among patients who had a stroke confirmed by imaging, 37.5% (18/48) had COVID-19 related apical findings. RT-PCR was positive for COVID-19 in all (18/18) of these patients with apical findings. CONCLUSION:The incidence of COVID-19 related lung findings in stroke CTA scans was 28% in all code patients who had a stroke and 37.5% in patients with a stroke confirmed by imaging. Stroke teams should closely assess the lung apices during this COVID-19 pandemic as CTA findings may be the first indicator of COVID-19 infection.
    背景与目标: 背景:作者注意到在2019年冠状病毒病(COVID-19)大流行期间,进行中风检查的头部和颈部的CT血管造影(CTA)肺尖异常增加。
    目的:评估这些CTA发现的发生率及其与COVID-19感染的关系。
    方法:在这项回顾性多中心机构审查委员会批准的研究中,评估了2020年3月16日至4月5日在纽约市六家医院中风的规范患者的CTA检查结果。收集人口统计学数据,合并症,COVID-19状况和神经系统检查结果。对CTA上COVID-19相关的肺部发现的评估不了解COVID-19的状态。在所有中风的代码患者和经影像学证实为中风的患者中,评估了与COVID-19相关的根尖发现的发生率。
    结果:该队列共有118例患者,平均±SD年龄为64.9±15.7岁,男性为57.6%(68/118)。在所有中风的规范患者中,有28%(33/118)患有COVID-19相关的肺部发现。 RT-PCR在93.9%(31/33)有心尖CTA的患者中COVID-19阳性。在影像学确诊的中风患者中,有37.5%(18/48)的患者具有COVID-19相关的心尖发现。所有这些(18/18)具有根尖发现的患者,RT-PCR的COVID-19均为阳性。
    结论:在所有中风的规范患者中,卒中CTA扫描中COVID-19相关肺部发现的发生率为28%,经影像学证实为中风的患者为37.5%。脑卒中小组应在这种COVID-19大流行期间密切评估肺尖,因为CTA检查结果可能是COVID-19感染的首个指标。

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