genetic screening

基因筛查
  • 文章类型: Journal Article
    背景:欧洲泌尿外科协会(EAU)上尿路尿路上皮癌(UTUC)指南小组更新了指南,以帮助临床医生对UTUC进行循证管理。
    目的:提供关于UTUC的EAU指南的概述,以帮助临床医生。
    方法:这些指南中提供的建议是基于通过对PubMed的系统搜索对文献的回顾,奥维德,EMBASE,和Cochrane数据库。使用以下关键词搜索数据:尿路癌,尿路上皮癌,肾盂,输尿管,膀胱癌,化疗,输尿管镜检查,肾输尿管切除术,肿瘤,(neo)辅助治疗,灌输,复发,危险因素,转移性,免疫疗法,和生存。结果由专家小组评估。
    结果:即使数据正在累积,对于许多领域,仍然没有足够的高级证据来提供强有力的建议。根据组织学和临床检查(包括影像学检查)对患者进行分层,并评估有Lynch综合征风险的患者将有助于管理。对于低风险UTUC和两个功能性肾脏的患者,应提供保留肾脏的管理作为主要治疗选择。特别是,对于高危或转移性UTUC患者,新的治疗方案已经可用。在高风险的UTUC中,根治性肾输尿管切除术后铂类化疗,和辅助nivolumab不适合或拒绝化疗的患者,是选项。对于转移性疾病,吉西他滨/卡铂化疗被推荐作为顺铂不合格患者的一线治疗方案.PD-1/PD-L1阳性肿瘤患者应提供检查点抑制剂(派姆单抗或阿特珠单抗)。
    结论:这些指南包含根据当前最佳证据对个体患者进行管理的信息。泌尿科医师在根据这些肿瘤的风险分层确定最佳治疗方案时,应考虑每位患者的具体临床特征。
    结果:上尿路癌很少见,但是因为这些肿瘤中的60%在诊断时是侵入性的,及时和适当的诊断是最重要的。存在许多已知的风险因素。
    The European Association of Urology (EAU) guidelines panel on upper urinary tract urothelial carcinoma (UTUC) has updated the guidelines to aid clinicians in evidence-based management of UTUC.
    To provide an overview of the EAU guidelines on UTUC as an aid to clinicians.
    The recommendations provided in these guidelines are based on a review of the literature via a systematic search of the PubMed, Ovid, EMBASE, and Cochrane databases. Data were searched using the following keywords: urinary tract cancer, urothelial carcinomas, renal pelvis, ureter, bladder cancer, chemotherapy, ureteroscopy, nephroureterectomy, neoplasm, (neo)adjuvant treatment, instillation, recurrence, risk factors, metastatic, immunotherapy, and survival. The results were assessed by a panel of experts.
    Even though data are accruing, for many areas there is still insufficient high-level evidence to provide strong recommendations. Patient stratification on the basis of histology and clinical examination (including imaging) and assessment of patients at risk of Lynch syndrome will aid management. Kidney-sparing management should be offered as a primary treatment option to patients with low-risk UTUC and two functional kidneys. In particular, for patients with high-risk or metastatic UTUC, new treatment options have become available. In high-risk UTUC, platinum-based chemotherapy after radical nephroureterectomy, and adjuvant nivolumab for unfit or patients who decline chemotherapy, are options. For metastatic disease, gemcitabine/carboplatin chemotherapy is recommended as first-line treatment for cisplatin-ineligible patients. Patients with PD-1/PD-L1-positive tumours should be offered a checkpoint inhibitor (pembrolizumab or atezolizumab).
    These guidelines contain information on the management of individual patients according to the current best evidence. Urologists should take into account the specific clinical characteristics of each patient when determining the optimal treatment regimen according to the risk stratification of these tumours.
    Cancer of the upper urinary tract is rare, but because 60% of these tumours are invasive at diagnosis, timely and appropriate diagnosis is most important. A number of known risk factors exist.
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  • 文章类型: Journal Article
    遗传性转甲状腺素蛋白介导的淀粉样变性(hATTR)由于临床表现的异质性,早期诊断具有挑战性。根据TTR基因变体及其在每个个体中的外显率而不同。在英国和爱尔兰最常见的TTR变体(T80A,V142I和V50M)与其他地理位置常见的情况不同,因此需要对诊断和基因测试进行具体考虑。此外,最近这种情况的治疗方法加强了对患者管理的更一致方法的需求,包括获得专业服务,基因检测和咨询,以及居住在英国和爱尔兰的家庭的临床调查。召集了来自英国和爱尔兰的多学科专家小组,以确定当前的挑战,提供建议,并为诊断和筛查患者达成共识,或者有风险,HATTR.在一系列会议上,专家们分享了他们目前的做法并起草了,完善并批准了一份共识声明。该共识声明为三个不同组提供了建议:(1)有症状的人增加了hATTR淀粉样变性的可能性;(2)活检证实hATTR淀粉样变性的人;(3)没有症状的人可能患有hATTR淀粉样变性(即具有确定的TTR变体的人的亲属)。对于每个小组,建议对有症状的患者进行诊断和随访所需的步骤,以及为有风险个体的咨询和症状前基因检测提供专家支持的指导。本指南旨在实用并基于现有证据。目的是让区域淀粉样蛋白专科中心及时提供诊断,临床筛查,以及对患有hATTR淀粉样变性的个体及其家庭的治疗。
    Hereditary transthyretin-mediated amyloidosis (hATTR) is challenging to diagnose early owing to the heterogeneity of clinical presentation, which differs according to the TTR gene variant and its penetrance in each individual. The TTR variants seen most frequently in the UK and Ireland (T80A, V142I and V50M) differ to those commonly occurring in other geographic locations and warrant a specific consideration for diagnosis and genetic testing. In addition, recent availability of treatment for this condition has reinforced the need for a more consistent approach to the management of patients, including access to specialist services, genetic testing and counselling, and clinical investigation for families living in the UK and Ireland. A multidisciplinary panel of experts from the UK and Ireland was convened to identify the current challenges, provide recommendations, and develop a consensus for the diagnosis and screening of people with, or at risk of, hATTR. Over a series of meetings, experts shared their current practices and drafted, refined and approved a consensus statement. This consensus statement provides recommendations for three different groups: (1) people with symptoms raising a possibility of hATTR amyloidosis; (2) people with biopsy-confirmed hATTR amyloidosis; and (3) people without symptoms who may have hATTR amyloidosis (i.e. relatives of people with identified TTR variants). For each group, recommendations are made for the required steps for the diagnosis and follow-up of symptomatic patients, and for guidance on the specialist support for counselling and pre-symptomatic genetic testing of at-risk individuals. This guidance is intended to be practical and based on available evidence. The aim is for regional amyloid specialist centres to provide timely diagnosis, clinical screening, and treatment for individuals and their families with hATTR amyloidosis.
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  • 文章类型: Journal Article
    目的:本指南回顾了妊娠早期超声的临床适应症。
    结果:已经报道了妊娠早期超声的临床获益。
    方法:相关文献中的Medline搜索和参考书目综述提供了证据。
    方法:主要作者和加拿大妇产科医师协会诊断成像委员会对内容和建议进行了审查。根据加拿大预防保健工作组的概述,对证据水平进行了判断。
    结论:
    OBJECTIVE: This guideline reviews the clinical indications for first trimester ultrasound.
    RESULTS: Proven clinical benefit has been reported from first trimester ultrasound.
    METHODS: A Medline search and bibliography reviews in relevant literature provided the evidence.
    METHODS: Content and recommendations were reviewed by the principal authors and the Diagnostic Imaging Committee of the Society of Obstetricians and Gynaecologists of Canada. Levels of evidence were judged as outlined by the Canadian Task Force on Preventive Health Care.
    CONCLUSIONS:
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  • 文章类型: Journal Article
    Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. \"Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China\" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer. The consensus aims to provide recommendations on management of the respective hereditary syndromes in terms of definition, clinical and pathological features, diagnostic standards, treatment, and follow-ups. In addition to describing diagnostic and treatment strategies, prophylactic treatment as well as genetic screening and pedigree monitoring is highly recommended. Through the establishment of this expert consensus, we hope to promote better understanding of hereditary colorectal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches, eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.
    遗传性结直肠癌根据有无息肉大致可分为2类,第1类是以息肉病为特征,包括家族性腺瘤性息肉病(FAP)等;第2类为非息肉病性结直肠癌,Lynch综合征是其中的重要代表。本共识主要分为遗传性非息肉病性综合征、息肉病性综合征以及遗传咨询与基因检测等3部分,分别针对各个遗传综合征的定义、临床病理特征、诊断标准、治疗策略以及随访监测策略展开阐述和推荐。除了提供相应的诊断和治疗方案,更强调防治结合,注重对家系成员的遗传筛查和监测随访。希望通过专家共识的制订,推动全国临床工作者对遗传性结直肠癌的认识和多学科参与的规范化诊治,最终有效提高中国遗传性结直肠癌的临床诊治和家系管理水平。.
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