personalised medicine

个性化医疗
  • 文章类型: Journal Article
    结直肠癌是全球最常见的肿瘤类型之一,尽管出现了靶向和生物疗法,死亡率最高。BCCancer的个性化肿瘤基因组学(POG)程序进行全基因组和转录组分析(WGTA),以识别可能最有效靶向的个体癌症的特定改变。使用WGTA告知,1例晚期错配修复缺陷型结直肠癌患者接受了抗高血压药物厄贝沙坦治疗,并经历了深刻而持久的缓解.我们描述了该患者的后续复发以及在L3脊柱的相同转移部位治疗前后使用WGTA和多重免疫组织化学(m-IHC)活检的潜在反应机制。我们没有观察到治疗前后基因组景观的明显差异。分析显示免疫信号和浸润免疫细胞的增加,特别是CD8+T细胞,在复发性肿瘤中。这些结果表明观察到的对厄贝沙坦的抗肿瘤应答可能是由于激活的免疫应答。确定是否有其他可能具有类似价值的厄贝沙坦的癌症背景需要额外的研究。
    Colorectal cancers are one of the most prevalent tumour types worldwide and, despite the emergence of targeted and biologic therapies, have among the highest mortality rates. The Personalized OncoGenomics (POG) program at BC Cancer performs whole genome and transcriptome analysis (WGTA) to identify specific alterations in an individual\'s cancer that may be most effectively targeted. Informed using WGTA, a patient with advanced mismatch repair-deficient colorectal cancer was treated with the antihypertensive drug irbesartan and experienced a profound and durable response. We describe the subsequent relapse of this patient and potential mechanisms of response using WGTA and multiplex immunohistochemistry (m-IHC) profiling of biopsies before and after treatment from the same metastatic site of the L3 spine. We did not observe marked differences in the genomic landscape before and after treatment. Analyses revealed an increase in immune signalling and infiltrating immune cells, particularly CD8+ T cells, in the relapsed tumour. These results indicate that the observed anti-tumour response to irbesartan may have been due to an activated immune response. Determining whether there may be other cancer contexts in which irbesartan may be similarly valuable will require additional studies.
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  • 文章类型: Journal Article
    背景:心肌桥在很大程度上被认为是良性的,冠状动脉的无症状先天性异常,其中心肌内冠状动脉过程部分“隧道化”并导致心室收缩期间血管受压。关于儿童的数据很少。目的:报告在儿科急诊室寻求医疗帮助的儿童中观察到的心肌桥。病例介绍:据报道,四名年龄在6-13岁之间的儿童有症状心肌桥,但没有其他潜在的心脏异常。他们在2013-2016年期间被送往儿科急诊科,其中三人在体育锻炼后出现胸痛,一人出现感染性休克。结果:前3例的心脏计算机断层扫描显示左前下冠状动脉分支的心肌桥;他们的2年随访顺利。第四例患者在入院后24小时出现心室纤颤,尸检时左前下冠状动脉上有一条4厘米长的心内膜束。结论:该病例系列表明,心肌桥在没有潜在心脏疾病的儿童中可能是有症状的,应包括在劳力性胸痛和/或心律失常的鉴别诊断中。缩写:CRP,C反应蛋白;CT,计算机断层扫描;D1,斜1动脉;心电图,心电图;ED,急诊科;KD,川崎病;LAD,左冠状动脉前降支;MB,心肌桥;RI,中支动脉;TN,肌钙蛋白.
    Background: Myocardial bridging is largely considered to be a benign, symptomless congenital anomaly of the coronary arteries in which the intramyocardial coronary course is partially \'tunnelled\' and leads to vessel compression during ventricular systole. There are few data regarding children.Objective: To report on myocardial bridging observed in children seeking medical help in the paediatric emergency room.Case presentation: A series of four children aged 6-13 years with symptomatic myocardial bridging but no other underlying cardiac abnormalities is reported. They were admitted to the paediatric emergency department during 2013-2016, three with chest pain after physical activity and one with septic shock.Results: Heart computed tomography scan in the first three demonstrated myocardial bridging of the left anterior descendent coronary artery\'s branches; their 2-year follow-up was uneventful. The fourth patient presented with ventricular fibrillation 24 hours after admission and at autopsy there was an intramyocardial tract 4 cm long on the left anterior descendent coronary artery.Conclusions: This case series demonstrates that myocardial bridging can be symptomatic in children with no underlying cardiac disorders and should be included in the differential diagnosis of exertional chest pain and/or arrhythmias.Abbreviations: CRP, C-reactive protein; CT, computed tomography; D1, diagonal 1 artery; ECG, electrocardiogram; ED, emergency department; KD, Kawasaki disease; LAD, left anterior descending coronary artery; MB, myocardial bridging; RI, ramus intermedius artery; TN, troponin.
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  • 文章类型: Journal Article
    Primary malignant epithelial tumours arising from accessory lacrimal glands (ALGs) are extremely rare, with only few cases reported in literature. They generally appear as gradually increasing masses of the upper or the lower eyelid. Only one case of primary adenocarcinoma or adenocarcinoma not otherwise specified (ACNOS) from ALGs has been reported in literature. Herein, we describe a case of ACNOS arising from ALGs with an atypical clinical presentation and review prior cases of ALGs epithelial malignancies reported in the literature. A 78-year-old man referred to our Ocular Oncology Unit for adjuvant therapy after the excision of a conjunctival tumour of the left eye with a histological diagnosis of squamous cell carcinoma. He underwent topical chemotherapy with MMC and during follow up he presented a multinodular iris mass in his left eye. The MRI of the orbit showed an ocular mass infiltrating orbital soft tissues of the inferior palpebral region with an involvement of the corresponding zygomatic cutis. We performed orbital exenteration and histological studies revealed an epithelial neoplasm with a solido-glandular growth pattern with lumens containing an eosinophilic material positive for PAS and PAS-D. The immunohistochemical findings confirmed the diagnosis of adenocarcinoma NOS from ALGs. Although ALGs epithelial malignancies are extremely uncommon, they should be considered in the differential diagnosis of ocular tumours. A vigilant approach towards these entities is required, since they can be clinically insidious and locally aggressive.
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  • 文章类型: Journal Article
    BACKGROUND: There is a paucity of data pertaining to the usefulness of information presented on social media platforms on chronic neuropsychiatric conditions such as Parkinson\'s disease (PD). The aim of this study was to examine the quality of YouTube™ videos that deliver general information on PD and the availability and design of instructional videos addressing the caregiving role in PD.
    METHODS: YouTube™ was searched using the keyword \"Parkinson\'s disease\" for relevant videos. Videos were assessed for usefulness and accuracy based on pre-defined criteria. Data on video characteristics including total viewership, duration, ratings, and source of videos were collated. Instructional PD videos that addressed the role of caregivers were examined closely for the design and scope of instructional content.
    RESULTS: A total of 100 videos met the inclusion criteria. Just under a third of videos (28%) was uploaded by trusted academic organisations. Overall, 15% of PD videos were found to be somewhat useful and only 4% were assessed as providing very useful PD information; 3% of surveyed videos were misleading. The mean number of video views (regardless of video source) was not significantly different between the different video ratings (p = 0.86). Although personal videos trended towards being less useful than videos from academic organisations, this association was not statistically significant (p = 0.13).
    CONCLUSIONS: To our knowledge, this is the first study to assess the usefulness of PD information on the largest video-sharing website, YouTube™. In general, the overall quality of information presented in the videos screened was mediocre. Viewership of accurate vs. misleading information was, however, very similar. Therefore, healthcare providers should direct PD patients and their families to the resources that provide reliable and accurate information.
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  • 文章类型: Journal Article
    Emerging technologies such as genomics, nanotechnology, and converging technologies are surrounded by a constellation of fashionable stereotyped phrases such as \'public engagement in science\', \'responsible innovation\', \'green technology\', or \'personalised medicine\'. Buzzwords are ubiquitous and used ad libitum by science policy makers, industrial companies in their advertisements, scientists in their research proposals, and journalists. Despite their proliferation in the language of scientific and technological innovation, these buzzwords have attracted little attention among science studies scholars. The purpose of this paper is to try to understand if, and how buzzwords shape the technoscientific landscape. What do they perform? What do they reveal? What do they conceal? Based on a case study of the phrase \'public engagement in science\', this paper describes buzzwords as linguistic technologies, capable of three major performances: buzzwords generate matters of concern and play an important role in trying to build consensus; they set attractive goals and agendas; they create unstable collectives through noise.
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