Diagnostic algorithm

诊断算法
  • 文章类型: Case Reports
    自2018年首次报告致命的博尔纳病毒-1(BoDV-1)脑炎以来,病例逐渐增加。缺乏诊断算法,到目前为止还没有有效的治疗方法。
    我们报告了一名77岁女性的急性BoDV-1脑炎,患有流感样发作,快速发展到单词发现困难,人格改变,全球迷失方向,弥漫性认知缓慢,步态共济失调和进一步恶化与发烧,威胁主义,严重的低钠血症,癫痫发作,认知能力下降,和局灶性皮质和小脑症状/体征。广泛的诊断检查(脑血管液体,血清,和MRI)的(脑膜-)脑炎在已知原因下呈阴性。我们的经验常见的抗病毒药物,抗菌,免疫抑制治疗失败。患者入院5天后昏迷,在第18天失去所有脑干反射,此后仍完全依赖有创机械通气,并在第42天死亡.大脑和脊髓尸检证实了广泛的,弥漫,严重的非化脓性,由于BoDV-1引起的淋巴细胞硬化性全脑脊髓炎,影响新皮质,皮质下,小脑,神经垂体,和脊髓区域。连同我们的案子,我们严格审查了所有报告的BoDV-1脑炎病例.
    急性BoDV-1脑炎的诊断具有挑战性和延迟,当它发展到致命的时候。在这项研究中,我们列出了迄今为止所有尝试过的和失败的治疗方法,以供将来参考,并提出了一种诊断算法,用于及时怀疑和诊断.
    UNASSIGNED: Since the first report of fatal Borna virus-1 (BoDV-1) encephalitis in 2018, cases gradually increased. There is a lack of diagnostic algorithm, and there is no effective treatment so far.
    UNASSIGNED: We report an acute BoDV-1 encephalitis in a 77-year-old female with flu-like onset, rapid progression to word-finding difficulties, personality changes, global disorientation, diffuse cognitive slowness, and gait ataxia and further deterioration with fever, meningism, severe hyponatremia, epileptic seizures, cognitive decline, and focal cortical and cerebellar symptoms/signs. The extensive diagnostic workup (cerebrovascular fluid, serum, and MRI) for (meningo-)encephalitis was negative for known causes. Our empirical common antiviral, antimicrobial, and immunosuppressive treatment efforts failed. The patient fell into coma 5 days after admission, lost all brainstem reflexes on day 18, remained fully dependent on invasive mechanical ventilation thereafter and died on day 42. Brain and spinal cord autopsy confirmed an extensive, diffuse, and severe non-purulent, lymphocytic sclerosing panencephalomyelitis due to BoDV-1, affecting neocortical, subcortical, cerebellar, neurohypophysis, and spinal cord areas. Along with our case, we critically reviewed all reported BoDV-1 encephalitis cases.
    UNASSIGNED: The diagnosis of acute BoDV-1 encephalitis is challenging and delayed, while it progresses to fatal. In this study, we list all tried and failed treatments so far for future reference and propose a diagnostic algorithm for prompt suspicion and diagnosis.
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  • 文章类型: Journal Article
    口炎(UVAL)是一种主要未知的疾病,具有广泛而复杂的鉴别诊断。
    为了提供对UVAL的主要特征的描述,确定最合适的诊断过程并描述当前的治疗方法。
    我们设计了一个回顾展,使用我们机构的妇科ER数据库进行描述性队列研究。纳入标准:年龄在10至20岁之间的女性患者,怀疑在CHUV的妇科ER诊断为UVAL。数据提取:流行病学特征,临床表现,实验室测试,已建立的诊断,治疗,和溃疡的结果。
    包括15例患者进行分析;平均年龄:15岁;溃疡发作时,60%的患者为处女病;所有患者均至少有一种流感样症状伴有外阴病变;最有效的血清学检查是针对EBV,仅有一名患者出现急性疾病;出于诊断目的,进行了两次活检,两种均不确定的组织病理学分析。扑热息痛,和利多卡因凝胶;93%的病例出现消退迹象;平均随访时间为10天。Sadoghi等人的诊断算法:15例中有10例通过该算法回顾性诊断为UVAL;一半被诊断为UVAL,另一半在妇科急诊就诊时被诊断为“来历不明的溃疡”。
    我们强烈推荐Sadoghi等人开发的诊断和治疗算法。作为指导临床推理的宝贵工具,因此,改善急性外阴溃疡的管理。
    UNASSIGNED: Ulcus Vulvae Acutum Lipschütz (UVAL) is a largely unknown disease with a broad and complex differential diagnosis.
    UNASSIGNED: To provide a description of the main characteristics of UVAL, determine the most appropriate diagnostic process and describe the current therapeutic approach.
    UNASSIGNED: We designed a retrospective, descriptive cohort study using the gynecological-ER database of our institution. Inclusion criteria: female patients aged between 10 and 20 years old with suspicion of a UVAL diagnosis at CHUV\'s gynecological ER. Data extraction: epidemiological characteristics, clinical presentation, laboratory tests, established diagnostics, treatment, and ulcer outcomes.
    UNASSIGNED: 15 patients were included for the analysis; average age: 15 years old; 60% of patients were virgo at the time of ulcer onset; all patients had at least one flu-like symptom concomitant with the vulvar lesion; the most-performed serology was for EBV and acute disease was present in only one patient; for diagnostic purposes two biopsies were performed with both inconclusive histopathology analysis; the main prescribed treatments were: oral NSAIDs, Paracetamol, and Lidocaine gel; 93% of cases presented signs of regression; the average follow-up time was 10 days. The diagnostic algorithm of Sadoghi et al: 10 out of 15 cases were retrospectively diagnosed with UVAL by the algorithm; half were diagnosed with UVAL, and the other half received a diagnosis of \"ulcers of unknown origin\" at the time of the gynecological ER visit.
    UNASSIGNED: We highly recommend the diagnostic and therapeutic algorithms developed by Sadoghi et al. as valuable tools to guide clinical reasoning and, consequently, improve acute vulvar ulcers management.
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  • 文章类型: Case Reports
    我们报告了一例罕见的干燥综合征并发Birt-Hogg-Dubé综合征(BHDS)的病例,文献中未提及。Further,没有足够的证据将这两种疾病联系起来。这里,我们回顾了诊断弥漫性囊性肺病的现有诊断算法,并提供了新的见解.患者最初抱怨口渴和眼睛干涩十年,并逐渐出现呼吸急促。入院后,体格检查显示五颗牙齿缺失,两个下肺的呼吸音减少,和魔术贴罗音。计算机断层扫描显示双肺有多个薄壁囊性病变。最初的干眼症和唇腺活检似乎显示与干燥综合征相关的肺囊性改变。出院前,观察到怀疑表明颈部纤维滤泡性肿瘤的皮疹,然后发现FLCN变体。讨论了如何阐明DCLD病因诊断的挑战。
    We report a rare case of Sjogren\'s syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren\'s syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed.
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  • 文章类型: Journal Article
    痣溢出(NS)由多种类型组成,其特征在于源自黑素细胞谱系细胞的可变甚至叠加病变中的先天性色素沉着斑块。不同NS表型的分子机制和分类尚不清楚。在这项研究中,基于下一代测序,小组对5名具有NS表型的儿童进行了基因分型。活检的DNA,对血液样本和毛囊进行测序,以确认体细胞突变的存在.测序结果表明,在所有痣的活检中,NRAS或HRAS基因发生体细胞突变,在血液和毛囊样本中未检测到致病性变异。这项研究成功地确定了五个具有不同NS表型的无关儿童的体细胞突变。此外,它提供了临床上不同的NS表型之间的典型图像和鉴别诊断,病态,和遗传特征,并首次提出了一种临床诊断算法,该算法有助于简化和优化这些重叠疾病的诊断和管理。
    Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next-generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.
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  • 文章类型: Case Reports
    尾回归综合征(CRS)是一种罕见的遗传性疾病,与骨科畸形有关,以及泌尿科,肛门直肠,脊椎畸形.我们介绍了在我们医院发现的3例CRS,以及该疾病的放射学和临床发现。每个案件都有不同的问题和主要投诉,我们提出了一种诊断算法,可以用作管理CRS的有用工具。CRS是一种复杂且罕见的先天性疾病,会影响多个系统,并可能导致一系列畸形。我们从3例CRS病例的发现中提出的诊断算法对于帮助医疗保健提供者识别CRS的类型并应用更个性化的方法来改善患者的生活质量非常重要。
    Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.
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  • 文章类型: Case Reports
    我们描述了使用当前疾病控制和预防中心的诊断算法诊断患有人类免疫缺陷病毒(HIV)-1的妊娠顺性妇女的情况,随后在算法之外进行额外测试后,她的诊断被推翻。包括HIV-1前病毒脱氧核糖核酸检测结果为阴性。
    We describe a case of a pregnant cisgender woman diagnosed with human immunodeficiency virus (HIV)-1 using the current Centers for Disease Control and Prevention diagnostic algorithm who subsequently had her diagnosis overturned after additional testing outside of the algorithm, including an HIV-1 proviral deoxyribonucleic acid test that was negative.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    全世界文献中提供的最佳证据表明,协调毒品相关死亡调查的重要性。在这项研究中,介绍了多学科方法在8例与毒品有关的死亡中的应用。尽管死亡现场发现可能高度暗示药物中毒,单独的外部检查和毒理学筛查测试是不够的。有几个变量,对药物检测进行正确的解释并不总是容易的。完整的尸检对于正确完成器官和组织采样以进行进一步的组织学和毒理学研究并获得体液是必要的。建议使用外周血以避免伪影。许多标本的收集是必要的,以获得更多的响应。采样旨在提供该物质在体内分布的图片。样品以及要研究的药物和基质的选择是病例依赖性的。提出的诊断算法为验尸官提供了调查与药物有关的死亡并与毒理学家合作的所有要素。毒理学法医学诊断在区域和国家背景下仍然非常不同。方法开发的资金,研究,网络,设施,和技术改进是规范毒理学调查的强制性要求。
    The best evidence provided in the literature worldwide suggests the importance of harmonizing the investigation in drug-related fatalities. In this study, the application of a multidisciplinary approach in eight cases of drug-related deaths is presented. Although death scene findings could be highly suggestive of drug intoxication, external examination and toxicological screening test alone are insufficient. There are several variables, and it is not always easy to give the proper interpretation of the drug detection. A complete autopsy is necessary to correctly complete organ and tissues sampling for further histological and toxicological studies and obtain body fluids. The use of peripheral blood is recommended to avoid artifacts. The collection of many specimens is warranted to get more responses. The sampling aims to provide a picture of the distribution of the substance in the body. The sample and the selection of the drugs and the matrices to investigate are case-dependent. The presented diagnostic algorithm provides the coroner with all the elements to investigate drug-related deaths and cooperate with toxicologists. Toxicological forensic diagnosis is still extremely heterogeneous in regional and national contexts. Funding for method development, research, networking, facilities, and technologies improvement is mandatory to standardize the toxicological investigation.
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  • 文章类型: Journal Article
    作为国家消除结核病计划(NTEP)战略计划的一部分,印度于2017年发起了一项基于社区的主动结核病发现(ACF)运动。这篇综述根据NTEP的最低指标评估了ACF运动组成部分的结果,并引发了实施中面临的挑战。我们补充了来自9个州和2个联邦地区(2017-2019年)的ACF计划经理和5个实施伙伴机构(2013-2020年)返回的完整预测试数据表格中的数据。NTEP在年度报告中公布了2018-2020年国家ACF结果的国家数据。数据显示,用于绘制和筛选脆弱人群的策略以及各州和工会地区使用的诊断算法存在差异。国家数据无法用于评估NTEP指标是否在筛查人群中确定与推定结核病的最低比例(5%),那些患有推定结核病的人正在接受诊断测试(>95%),最低痰涂片阳性率(2%至3%),通过胸部X线或CBNAAT检测痰涂片阴性的患者(>95%)和通过ACF开始抗结核治疗的患者(>95%)均得到满足.2018年只有30%(10/33)的州,2019年的23%(7/31)和2020年的21%(7/34)符合NTEP的预期,即通过ACF进行测试的人中有5%将被诊断患有结核病(所有形式)。NTEP的计划指标中不包括筛查诊断一名结核病(NNS)患者所需的人数。ACF效率的粗略指标在各州和工会领土之间差异很大。2018年的NNS中位数为2080(四分位距或IQR517-4068)。2019年,NNS为2468(IQR1050-7924),2020年,NNS为906(IQR108-6550)。数据一致显示,在ACF期间进行筛查并使用胸部X射线或CBNAAT(或两者)诊断结核病的州比例更高,NNS较低。许多实施挑战,与卫生系统有关,医疗保健提供和患者经历的困难,被引出。我们建议采取一系列战略干预措施,以解决实施挑战和ACF成果中确定的六个差距以及预期指标,这些指标可能会提高印度基于社区的ACF的效力和有效性。
    India launched a national community-based active TB case finding (ACF) campaign in 2017 as part of the strategic plan of the National Tuberculosis Elimination Programme (NTEP). This review evaluated the outcomes for the components of the ACF campaign against the NTEP\'s minimum indicators and elicited the challenges faced in implementation. We supplemented data from completed pretested data proformas returned by ACF programme managers from nine states and two union territories (for 2017-2019) and five implementing partner agencies (2013-2020), with summary national data on the state-wise ACF outcomes for 2018-2020 published in annual reports by the NTEP. The data revealed variations in the strategies used to map and screen vulnerable populations and the diagnostic algorithms used across the states and union territories. National data were unavailable to assess whether the NTEP indicators for the minimum proportions identified with presumptive TB among those screened (5%), those with presumptive TB undergoing diagnostic tests (>95%), the minimum sputum smear positivity rate (2% to 3%), those with negative sputum smears tested with chest X-rays or CBNAAT (>95%) and those diagnosed through ACF initiated on anti-TB treatment (>95%) were fulfilled. Only 30% (10/33) of the states in 2018, 23% (7/31) in 2019 and 21% (7/34) in 2020 met the NTEP expectation that 5% of those tested through ACF would be diagnosed with TB (all forms). The number needed to screen to diagnose one person with TB (NNS) was not included among the NTEP\'s programme indicators. This rough indicator of the efficiency of ACF varied considerably across the states and union territories. The median NNS in 2018 was 2080 (interquartile range or IQR 517-4068). In 2019, the NNS was 2468 (IQR 1050-7924), and in 2020, the NNS was 906 (IQR 108-6550). The data consistently revealed that the states that tested a greater proportion of those screened during ACF and used chest X-rays or CBNAAT (or both) to diagnose TB had a higher diagnostic yield with a lower NNS. Many implementation challenges, related to health systems, healthcare provision and difficulties experienced by patients, were elicited. We suggest a series of strategic interventions addressing the implementation challenges and the six gaps identified in ACF outcomes and the expected indicators that could potentially improve the efficacy and effectiveness of community-based ACF in India.
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