investigations

调查
  • 文章类型: Journal Article
    H10禽流感病毒在野生鸟类中传播,并可以与其他亚型重新分类。H10N8和H10N3以前曾在中国引起零星的人类感染。
    本报告记录了首例人类同时感染禽源H10N5和季节性H3N2流感病毒的病例。流行病学调查在与患者相关的环境样本中确定了H10N5,但是没有传输给密切接触者。
    加强对活禽市场和家禽种群中禽流感的监测对于彻底确定流行病学特征至关重要,传输,和H10N5病毒的发病机理。加强对疫情控制措施的评估对于指导有效管理至关重要。
    UNASSIGNED: H10 avian influenza viruses circulate in wild birds and can reassort with other subtypes. H10N8 and H10N3 have previously caused sporadic human infections in China.
    UNASSIGNED: This report documents the first human case of co-infection with avian-origin H10N5 and seasonal H3N2 influenza viruses. Epidemiological investigations identified H10N5 in environmental samples linked to the patient, but no transmission to close contacts occurred.
    UNASSIGNED: Enhanced surveillance of avian influenza in live poultry markets and poultry populations is crucial for thoroughly characterizing the epidemiology, transmission, and pathogenesis of H10N5 viruses. Strengthening assessments of outbreak control measures is essential to guide effective management.
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  • 文章类型: Journal Article
    由于震颤综合征中的复杂和重叠表型,震颤患者的诊断方法具有挑战性。评估震颤的第一步是识别震颤运动并排除震颤模仿。第二步是根据历史线索和重点检查(轴1)的震颤特征对震颤综合征进行分类。综合震颤检查涉及评估不同条件下的震颤(休息,动作或混合,位置或特定任务),震颤的分布(上肢,下肢,头部,jaw),如果怀疑是功能性震颤(FT)的积极迹象(注意力不集中,夹带,共同收缩),和相关的神经系统症状,包括帕金森病,肌张力障碍的姿势,小脑/脑干体征,神经病,和认知障碍。该步骤中的关键特征是确定特定的孤立或组合的震颤综合征的任何明显特征。在这次审查中,我们提出了一种评估上肢震颤的算法。如果临床评估不清楚,应进行辅助测试。调查的选择取决于被认为缩小病因范围的震颤类型(轴2)。实验室血液检查被认为是急性发作和急性加重的震颤,虽然结构神经成像显示在急性发作的单侧震颤中,非古典演讲,和神经症状的组合。神经生理学研究是帮助区分震颤和肌阵颤的重要工具。震颤的病因和FT的具体征象。治疗主要根据震颤的病因和患者的残疾进行对症治疗。
    The diagnostic approach for patients with tremor is challenging due to the complex and overlapping phenotypes among tremor syndromes. The first step in the evaluation of tremor is to identify the tremulous movement and exclude the tremor mimics. The second step is to classify the tremor syndrome based on the characteristics of tremor from historical clues and focused examination (Axis 1). Comprehensive tremor examinations involve the assessment of tremor in different conditions (rest, action or mixed, position or task-specific), distribution of tremor (upper limb, lower limb, head, jaw), positive signs for functional tremor (FT) if suspected (distractibility, entrainment, co-contraction), and associated neurological signs including parkinsonism, dystonic posture, cerebellar/brainstem signs, neuropathy, and cognitive impairment. A pivotal feature in this step is to determine any distinct feature of a specific isolated or combined tremor syndrome. In this review, we propose an algorithm to assess upper limb tremors. Ancillary testing should be performed if clinical evaluation is unclear. The choice of investigation depends on the types of tremors considered to narrow down the spectrum of etiology (Axis 2). Laboratory blood tests are considered for acute onset and acute worsening of tremors, while structural neuroimaging is indicated in unilateral tremors with acute onset, nonclassical presentations, and a combination of neurological symptoms. Neurophysiological study is an important tool that aids in distinguishing between tremor and myoclonus, etiology of tremor and document specific signs of FT. Treatment is mainly symptomatic based depending on the etiology of the tremor and the patient\'s disabilities.
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  • 文章类型: Case Reports
    甲状腺脓肿,或急性化脓性甲状腺炎(AST),是极其罕见的情况,特别是在儿科人群中。它通常由先天性异常引起或继发于感染。尽管它很罕见,及时的诊断和处理对于预防严重并发症至关重要.我们报告了一个没有明显病史的五岁女孩,她有两周的颈前肿胀病史,吞咽困难,发烧,和白细胞增多。值得注意的是,患者未出现甲状腺功能障碍症状.在私人诊所使用抗生素对可疑细菌感染进行初始治疗并没有改善。超声和计算机断层扫描显示甲状腺左叶内有多部位脓肿。患者行成功切开引流,在抗生素治疗的支持下,导致完全康复,没有并发症。影像学研究在诊断和指导这种疾病的治疗中起着至关重要的作用。甲状腺脓肿,虽然罕见,应该是小儿急性颈部肿胀的鉴别诊断的一部分,发烧,和痛苦。早期诊断和适当的管理,通常涉及外科引流和抗生素,对于有利的结果至关重要。
    Thyroid abscess, or acute suppurative thyroiditis (AST), is an exceedingly rare condition, particularly in the pediatric population. It often results from congenital anomalies or is secondary to infections. Despite its rarity, prompt diagnosis and management are crucial to prevent serious complications. We report a case of a five-year-old girl with no significant medical history who presented with a two-week history of anterior neck swelling, odynophagia, fever, and leukocytosis. Notably, the patient did not exhibit symptoms of thyroid dysfunction. Initial treatment with antibiotics for a suspected bacterial infection at a private clinic did not lead to improvement. Ultrasound and computed tomography scans revealed a multiloculated abscess within the left thyroid lobe. The patient underwent successful incision and drainage, supported by antibiotic therapy, resulting in a full recovery without complications. Imaging studies played a critical role in diagnosing and guiding the management of this condition. Thyroid abscess, though rare, should be part of the differential diagnosis for pediatric patients presenting with acute neck swelling, fever, and pain. Early diagnosis and appropriate management, typically involving surgical drainage and antibiotics, are essential for a favorable outcome.
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  • 文章类型: Journal Article
    调查刑事投诉并确定要在法院起诉的罪犯是执法和公共安全的重要过程。然而,由于紧张的环境,执法调查人员在非常具有挑战性的条件下运作,人员不足,和公众监督,哪些因素导致调查错误(例如未结清的案件)。本文认为,调查失败的一个原因是调查人员自身的睡眠和昼夜节律中断,众所周知,在执法部门中普遍存在。通过专注于调查性采访,通过考虑以下三个主要阶段,该分析说明了睡眠和昼夜节律中断如何影响调查:(1)准备,(2)信息获取,(3)评估和佐证。这些阶段是在一个框架中组织的,该框架概述了需要经验关注的理论知情途径,特别关注对调查至关重要的努力和决策过程。虽然现有证据有限,初步发现支持调查疲劳的一些因素。本文最后将调查疲劳置于更广泛的调查工作背景下,同时为整个未来的研究提供建议。本文是司法系统中睡眠和昼夜节律健康的一部分。
    Investigating criminal complaints and identifying culprits to be prosecuted in the court of law is an essential process for law-enforcement and public safety. However, law-enforcement investigators operate under very challenging conditions due to stressful environments, understaffing, and public scrutiny, which factors into investigative errors (e.g. uncleared cases). This paper argues that one contributing factor to investigative failures involves sleep and circadian disruption of investigators themselves, known to be prevalent among law-enforcement. By focusing on investigative interviewing, this analysis illustrates how sleep and circadian disruption could impact investigations by considering three broad phases of (1) preparation, (2) information elicitation, and (3) assessment and corroboration. These phases are organized in a framework that outlines theory-informed pathways in need of empirical attention, with special focus on effort and decision-making processes critical to investigations. While existing evidence is limited, preliminary findings support some elements of investigative fatigue. The paper concludes by placing investigative fatigue in a broader context of investigative work while providing recommendations for future research throughout. This paper is part of the Sleep and Circadian Health in the Justice System Collection.
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  • 文章类型: Journal Article
    对发育退化的儿童状况知之甚少。需要表型基因型表征和诊断产量数据来告知临床决策。这项研究的目的是报告具有发育回归特征的条件并评估调查的诊断结果。对2018年至2021年之间在三级儿科遗传诊所出现发育回归的儿童进行了回顾性图表审查。99个孩子,30%(n=30)有智力残疾(ID),21%(n=21)是自闭症,39%(n=39)患有自闭症,9%(n=9)没有ID或自闭症。32%(n=32)的儿童接受了新的诊断,包括8个以前没有报道过的以发育退化为特征的分子研究结果。在被调查的孩子中,外显子组测序(ES)提供了最高的诊断率(51.1%,n=24/47),最高(63.6%,n=14/22)对于有身份证的儿童,有ID的自闭症儿童(n=6/12)和无ID的自闭症儿童(n=3/6)的50%,无身份证的自闭症儿童为14.3%(n=1/7)。我们重点介绍了发育回归的条件,并报告了新的表型扩展。ES的高诊断率,不管自闭症或ID诊断,表明发育回归的存在是确定原因的机会,包括以前没有报道的遗传差异,包括回归。
    Childhood conditions that feature developmental regression are poorly understood. Phenotype-genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a tertiary pediatric genetic clinic between 2018 and 2021 was performed. Of 99 children, 30% (n = 30) had intellectual disability (ID), 21% (n = 21) were autistic, 39% (n = 39) were autistic with ID, and 9% (n = 9) did not have ID or autism. Thirty-two percent (n = 32) of children received a new diagnosis, including eight molecular findings not previously reported to feature developmental regression. Of the children investigated, exome sequencing (ES) provided the highest diagnostic yield (51.1%, n = 24/47), highest (63.6%, n = 14/22) for children with ID, 50% for autistic children with ID (n = 6/12) and children without autism or ID (n = 3/6), and 14.3% (n = 1/7) for autistic children without ID. We highlight the conditions that feature developmental regression and report on novel phenotypic expansions. The high diagnostic yield of ES, regardless of autism or ID diagnosis, indicates the presence of developmental regression as an opportunity to identify the cause, including for genetic differences not previously reported to include regression.
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    求助全文

  • 文章类型: Journal Article
    本文件的目的是为不孕症专家提供指导,妇科医生,胚胎学家,并向他们简要介绍该领域的最新进展。这些建议将帮助上述医疗保健专业人员进行日常临床决策,以最佳的证据为患者提供适当和有效的护理。
    广泛的讨论,讨论,头脑风暴是在不同的生殖医学(RM)专家之间进行的,制定建议。
    使用PubMed和Cochrane协作图书馆对截至2019年6月发表的文献进行了系统回顾。国际准则,队列研究,案例系列,观察性研究,并对文献中现有的随机对照试验进行了综述.还审查了印度的任何可用数据。
    主要会议与领先的生殖医学专家举行。每个主题都由一组生殖医学专家集思广益,然后,他编写了建议的初稿。这些建议随后由JaideepMalhotra博士审查,GouriDevi博士,和MadhuriPatil博士以及每个共识的首席协调员,以最终确定最终草案。
    从文献和对现有证据的讨论中,确定了几个证据不一致的主题,不足,或不存在。为了夫妇接受多次治疗,工作委员会建议未来的研究,在可能的情况下,在精心设计的RCT中,将有助于为特定实践建立证据。在印度的背景下,还需要考虑可用的设施和选项,成本,缺乏保险,一些先进技术的实验性质。
    UNASSIGNED: The objective of this document is to provide guidance to the infertility specialist, gynecologist, embryologist, and counselors on the management of sub-fertility and brief them with the recent advances in the field. These recommendations will aid the aforementioned healthcare professionals in everyday clinical decisions about appropriate and effective care of their patients with the best available evidence.
    UNASSIGNED: Extensive deliberations, discussion, and brainstorming was done between different reproductive medicine (RM) specialists, to develop the recommendations.
    UNASSIGNED: A systematic review of the literature published up to June 2019 was carried out using PubMed and Cochrane Collaboration Library. International guidelines, cohort studies, case series, observational studies, and randomized controlled trials currently available in the literature were reviewed. Indian data whatever available was also reviewed.
    UNASSIGNED: Primary meetings were held with leading reproductive medicine specialists. Each topic was brainstormed on by a group of reproductive medicine experts, who then prepared the first draft of the recommendation. These recommendations then were reviewed by Dr. Jaideep Malhotra, Dr. Gouri Devi, and Dr. Madhuri Patil along with the chief co-ordinator of each consensus to finalize the final draft.
    UNASSIGNED: From the literature and discussion of the available evidence, several topics were identified for which evidence is inconsistent, insufficient, or non-existing. For the benefit of couples undergoing several treatments, the working committee recommends that future research, where possible in well-designed RCTs, will help in establishing evidence for a particular practice. In the Indian context, one also needs to take into consideration facilities and options available, cost, lack of insurance coverage, experimental nature of some advanced techniques used.
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  • 文章类型: Journal Article
    背景:在早期癌症诊断和低风险症状过度检测之间取得正确的平衡至关重要。以患者为中心的护理还必须考虑患者对测试的偏好。
    目的:调查澳大利亚公众对与食管胃(OG)相关症状的诊断测试偏好,肠,或者肺癌.
    方法:与OG相关的三个离散选择实验(DCE)之一,肠,对40岁及以上的具有全国代表性的澳大利亚人进行了肺癌治疗。
    方法:每个DCE包含三种情况,未诊断癌症的症状阳性预测值(PPV)范围为1%至3%。参与者隐瞒了数字风险。DCE属性包含了测试策略,GP熟悉度,测试和结果等待时间,旅行持续时间,和测试成本。使用条件和混合logit模型估计偏好。
    结果:共有3013个人参加了三个DCE之一:OG(n=1004),肠(n=1006),和肺(n=1003)。偏好主要是由等待时间驱动的,测试成本,然后是测试类型。更倾向于侵入性测试。当遇到风险极低的症状(症状PPV为1%或更低)时,参与者更倾向于放弃测试.
    结论:与访问相关的因素,特别是等待时间和测试费用,成为影响偏好的最关键的因素,强调了这些系统性因素对患者选择调查的重大影响.
    BACKGROUND: Striking the right balance between early cancer diagnosis and the risk of excessive testing for low-risk symptoms is of paramount importance. Patient-centred care must also consider patient preferences for testing.
    OBJECTIVE: To investigate the diagnostic testing preferences of the Australian public for symptoms associated with oesophagogastric (OG), bowel, or lung cancer.
    METHODS: One of three discrete-choice experiments (DCEs) related to either OG, bowel, or lung cancer were administered to a nationally representative sample of Australians aged ≥40 years.
    METHODS: Each DCE comprised three scenarios with symptom positive predictive values (PPVs) for undiagnosed cancer ranging from 1% to 3%. The numerical risk was concealed from participants. DCE attributes encompassed the testing strategy, GP familiarity, test and result waiting times, travel duration, and test cost. Preferences were estimated using conditional and mixed logit models.
    RESULTS: A total of 3013 individuals participated in one of three DCEs: OG (n = 1004), bowel (n = 1006), and lung (n = 1003). Preferences were chiefly driven by waiting time and test cost, followed by the test type. There was a preference for more invasive tests. When confronted with symptoms carrying an extremely low risk (symptom PPV of ≤1%), participants were more inclined to abstain from testing.
    CONCLUSIONS: Access-related factors, particularly waiting times and testing costs, emerged as the most pivotal elements influencing preferences, underscoring the substantial impact of these systemic factors on patient choices regarding investigations.
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  • 文章类型: Journal Article
    巩膜是一种罕见的非进行性角膜,非炎性的通常双侧先天性角膜混浊,可与眼部和全身异常有关。它可以在50%的案例中继承。与眼合并症相关的角膜缘结构和血管形成不明确导致角膜移植的不良结果。这篇叙述性综述总结了有关硬角膜病因和临床表现的最新文献。关于角膜移植术,它侧重于决策中的关键要素,强调了研究的作用,并讨论了实际的手术珍珠,以提高这些眼睛的角膜移植术的结果。
    Sclerocornea is a rare non-progressive, non-inflammatory usually bilateral congenital corneal opacity that can be associated with both ocular and systemic abnormalities. It could be inherited in 50% of cases. Ill-defined limbal architecture and vascularization in association with ocular comorbidities results in poor outcomes with corneal transplantation. This narrative review summarizes the current literature on etiology and clinical presentation in sclerocornea. With regards to keratoplasty, it focusses on key elements in decision making, highlights the role of investigations and discusses practical surgical pearls to enhance outcome of keratoplasty in these eyes.
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  • 文章类型: Journal Article
    本文已迁移。这篇文章被标记为推荐。成为一名医生涉及一系列的过渡,要求医学生配备适当的知识,技能,在每一步的信心和专业的方法。这项试点横断面研究在完成为期五年的本科医学课程的1-5年级后立即调查了五个队列(黄金海岸,澳大利亚)关于他们明年的准备情况。调查,两个经过验证的库存的合并,是为每年的小组量身定制的,包括五个领域的预期能力。尽管反应很低,那些参与的人提供了关于他们的能力和信心的有价值的信息,在他们的人际交往和个人技能方面,他们的临床技能,他们运用理论知识和调查的能力。时间管理和平衡工作及其研究是可能需要支持的一些领域。一般来说,所有学生都对沟通和体检技能感到满意,但一些高年级学生中有一半对与暴力患者打交道没有信心,约20%的学生对与有心理健康问题的患者进行沟通和评估感到不放心。学生确定了另外两个需要课程干预的领域:与可能使用非同种疗法药物的患者一起工作并计算药物剂量。由于两者对患者预后的影响,需要进行后续研究。需要研究不同的招聘策略。
    This article was migrated. The article was marked as recommended. Becoming a doctor involves a series of transitions that require medical students to be equipped with the appropriate knowledge, skills, confidence and professional approach at each step. This pilot cross-sectional study canvassed five cohorts immediately after completing Years 1-5 in a five-year undergraduate medical program (Gold Coast, Australia) regarding their preparedness for the next year. The survey, an amalgamation of two validated inventories, was tailored for each year group to include the expected competencies in five areas. Despite a low response, those who did participate provided valuable information regarding their competence and confidence in terms of their interpersonal and intrapersonal skills, their clinical skills, their ability to apply their theoretical knowledge and investigations. Time management and balancing work and their studies were some areas in which support might be needed. Generally, all student felt comfortable with the communication and physical examination skills but up to half of some of the more senior students were not confident towards dealing with a violent patient and about 20% did not feel at ease communicating and assessing a patient with a mental health issue. Students identified two other areas that requiring curriculum interventions: Working with patients who might be using non-allopathic medications and calculating drug doses. As both impact on patient outcomes, a follow-up study is required. Different recruitment strategies need to be investigated.
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  • 文章类型: Journal Article
    目的:确定葡萄胎患者首次接触时的调查模式并评估治疗依从性。
    方法:一项观察性研究,包括2019年1月至2020年6月首次到我们中心就诊的201例葡萄膜患者。有关专家在首次联系时进行的系统性调查的详细信息以及这些调查的费用在首次访问我们的中心时进行了审查。确定了对治疗的依从性,并在临床体征和症状没有改善的患者的第一次随访中评估了不依从性的原因。
    结果:研究组的平均年龄为35.35±14.1y,性别构成为男性59.7%,女性40.3%。在45.3%的患者中观察到前葡萄膜炎,31.8%的患者出现中度葡萄膜炎,14.9%的患者后葡萄膜炎和8.0%的患者全葡萄膜炎。与全身性疾病的相关性在17.9%的患者中是明显的。与标准指南和葡萄膜炎模式相比,系统性调查仅在38.3%的患者中被确定为相关.22.4%的患者不遵守治疗。不遵守情事的常见原因是治疗医生对26.7%的患者的治疗咨询不足,以及22.2%的患者的工作/学校工作繁忙。
    结论:首次接触时进行的大量调查被发现违反标准指南,对护理没有贡献。这项研究中约有四分之一的患者被发现不符合治疗。在上学的儿童和在职成年人中,实现合规性更具挑战性。全面的可用性,定期更新,关于调查的作用和使用训练有素的顾问的循证指南可能有助于引导适当的评估并提高对治疗的依从性,分别,葡萄膜炎患者。
    OBJECTIVE: To ascertain the pattern of investigations at first contact in uveitic patients and evaluate compliance to treatment.
    METHODS: An observational study comprised of 201 uveitic patients presenting for the first time to our centre from January 2019 to June 2020. Detailed information regarding systemic investigations undertaken by specialists at the time of first contact and the cost of these investigations were reviewed on the first visit to our centre. Compliance with the treatment was determined and reasons behind non-compliance were evaluated on the first follow-up in patients who had no improvement in clinical signs and symptoms.
    RESULTS: The mean age of the study group was 35.35±14.1y and gender composition was 59.7% males and 40.3% females. Anterior uveitis was observed in 45.3% of patients, intermediate uveitis in 31.8% of patients, posterior uveitis in 14.9% of patients and panuveitis in 8.0% of patients. Association with a systemic disease was evident in 17.9% of patients. When compared with standard guidelines and uveitis patterns, systemic investigations were identified to be relevant only in 38.3% of patients. Non-compliance to treatment was documented in 22.4% of patients. Common reasons for non-compliance were inadequate counselling by the treating physician about treatment in 26.7% of patients and a busy schedule at work/school in 22.2% of patients.
    CONCLUSIONS: Significant number of investigations performed at first contact is found to be contrary to standard guidelines and are not contributory to the care. About a quarter of patients in this study are found to be non-compliant with the treatment. Compliance is more challenging to achieve in school-going children and working adults. The availability of comprehensive, periodically updated, evidence-based guidelines on the role of investigations and the use of trained counsellors may help to channelize proper evaluation and improve compliance to treatment, respectively, in patients with uveitis.
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