Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a ...complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative.
Improving Diagnosis in Health Care , a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errors?has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.
To provide a standardised approach to the diagnosis of diseases and to facilitate health certification for trade, the World Organisation for Animal Health (OIE) standards, described in the Manual of ...Diagnostic Tests and Vaccines for Terrestrial Animals (Terrestrial Manual), include internationally agreed laboratory diagnostic techniques. This review examines the type of tests recommended in the disease-specific chapters of the Terrestrial Manual for the six most common purposes of diagnostic techniques, including certification for movement, confirmation of clinical cases and disease surveillance. The most frequently recommended tests for all six purposes are enzyme-linked immunosorbent assay and/or polymerase chain reaction, for which there are detailed validation guidelines in the OIE Terrestrial Manual. This is true for all species and no species-specific barriers to validation related to test type were identified. Classical techniques continue to be well represented in the Terrestrial Manual recommendations whereas novel technologies are slow to gain acceptance. These classical tests can present challenges for validation as there may be a dearth of international standard reagents and harmonised protocols.
Onchocerciasis (river blindness) is a major public health problem in sub-Saharan Africa. Major disease-control programs have greatly reduced both disease and infection prevalence by mass distribution ...of donated ivermectin. Recent studies have shown that local elimination was achieved in some areas following many years of ivermectin. The global health community has recently decided to build on these successes with a new program that aims to eliminate onchocerciasis. Diagnostic tests that were useful for identifying priority areas for disease prevention may not be adequate tools for elimination programs. This paper reviews available and emerging diagnostic tests for onchocerciasis and considers how they might be best employed during different stages of onchocerciasis elimination programs.
Infectious diseases are a major global health issue. Diagnosis is a critical first step in effectively managing their spread. Paper-based microfluidic diagnostics first emerged in 2007 as a low-cost ...alternative to conventional laboratory testing, with the goal of improving accessibility to medical diagnostics in developing countries. In this review, we examine the advances in paper-based microfluidic diagnostics for medical diagnosis in the context of global health from 2007 to 2016. The theory of fluid transport in paper is first presented. The next section examines the strategies that have been employed to control fluid and analyte transport in paper-based assays. Tasks such as mixing, timing, and sequential fluid delivery have been achieved in paper and have enabled analytical capabilities comparable to those of conventional laboratory methods. The following section examines paper-based sample processing and analysis. The most impactful advancement here has been the translation of nucleic acid analysis to a paper-based format. Smartphone-based analysis is another exciting development with potential for wide dissemination. The last core section of the review highlights emerging health applications, such as male fertility testing and wearable diagnostics. We conclude the review with the future outlook, remaining challenges, and emerging opportunities.
Objective
To develop an effective strategy for accurate diagnosis of focal liver lesions (FLLs) in patients with non‐high risk for hepatocellular carcinoma (HCC).
Methods
From January 2012 to ...December 2015, consecutive patients with non‐high risk for HCC who underwent contrast‐enhanced ultrasound (CEUS) were included in this retrospective double‐reader study. All patients were stratified into 2 different risks (intermediate, low‐risk) groups according to criteria based on clinical characteristics, known as clinical risk stratification criteria. For the intermediate‐risk group, the CEUS criteria for identifying benign lesions and HCCs were constructed based on selected CEUS features. The diagnostic performance of the clinical risk stratification criteria, and CEUS criteria for identifying benign lesions and HCCs was evaluated.
Results
This study included 348 FLLs in 348 patients. The sensitivity and specificity of the clinical risk stratification criteria for malignancy was 97.8 and 69.8%. Patients were classified as intermediate risk if they were male, or older than 40 years of age, or HBcAb positive, or having positive tumor markers. Otherwise, patients were classified as low risk. Among the 348 patients, 327 were in the intermediate‐risk group and 21 were in the low‐risk group. In the intermediate‐risk group, the CEUS criteria for identifying benign lesions were any of the following features: 1) hyper/isoenhancement in the arterial phase without washout, 2) nonenhancement in all phases, 3) peripheral discontinuous globular enhancement in the arterial phase, 4) centrifugal enhancement or peripheral enhancement followed by no central enhancement, or 5) enhanced septa. The accuracy, sensitivity, and specificity of the CEUS criteria for identifying benign lesions were 94.5, 83.0, and 99.6%, respectively. Arterial phase hyperenhancement followed by mild and late washout (>60 seconds) was more common in HCC patients than in non‐HCC patients (P < .001). Using arterial phase hyperenhancement followed by mild and late washout as the CEUS criteria for identifying HCCs, the sensitivity and specificity were 52.6 and 95.3%, but unfortunately, the positive predictive value was only 82.0%. For the low‐risk group, no further analysis was performed due to the small sample size.
Conclusions
Initial clinical risk stratification followed by assessment of certain CEUS features appears to be a promising strategy for the accurate diagnosis of FLLs in patients not at high risk for HCC.
...the publication of an essential diagnostics list (EDL) for priority settings by WHO in 2018 has been a key step in recognising the importance of diagnostics. ...the COVID-19 pandemic has greatly ...raised awareness of the crucial importance of diagnostics. ...a 2019 study suggested that India has only 1151 accredited medical laboratories, whereas the USA, with a quarter of India's population, has 260 000 accredited medical laboratories. Because low political prioritisation is the key cause of poor access to diagnostics, we explore how we can use the framework of Shiffman and Smith to achieve political change. Because technology is an enabler of many of the putative solutions in this Commission, we discuss the crucial role of technological innovation and also propose solutions via changes in policy, governance, and finance, and in infrastructure, workforce, and quality.
Exosomes are secreted by most cell types and circulate in body fluids. Recent studies have revealed that exosomes play a significant role in intercellular communication and are closely associated ...with the pathogenesis of disease. Therefore, exosomes are considered promising biomarkers for disease diagnosis. However, exosomes are always mixed with other components of body fluids. Consequently, separation methods for exosomes that allow high‐purity and high‐throughput separation with a high recovery rate and detection techniques for exosomes that are rapid, highly sensitive, highly specific, and have a low detection limit are indispensable for diagnostic applications. For decades, many exosome separation and detection techniques have been developed to achieve the aforementioned goals. However, in most cases, these two techniques are performed separately, which increases operation complexity, time consumption, and cost. The emergence of microfluidics offers a promising way to integrate exosome separation and detection functions into a single chip. Herein, an overview of conventional and microfluidics‐based techniques for exosome separation and detection is presented. Moreover, the advantages and drawbacks of these techniques are compared.
Recent studies have revealed that exosomes are promising biomarkers for disease diagnosis. The biogenesis and functions of exosomes are presented here. Latest advances in techniques for exosome separation and detection for clinical diagnostics are comprehensively discussed. The microfluidics‐based exosome separation and detection techniques are highlighted along with key challenges and future perspectives.
Across a variety of Mendelian disorders, ∼50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome ...sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly diagnose 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder. We find a median of one aberrantly expressed gene, five aberrant splicing events and six mono-allelically expressed rare variants in patient-derived fibroblasts and establish disease-causing roles for each kind. Private exons often arise from cryptic splice sites providing an important clue for variant prioritization. One such event is found in the complex I assembly factor TIMMDC1 establishing a novel disease-associated gene. In conclusion, our study expands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-of-function variants with pathological relevance.
Sweat as a diagnostic biofluid Yang, Da Som; Ghaffari, Roozbeh; Rogers, John A
Science (American Association for the Advancement of Science),
02/2023, Letnik:
379, Številka:
6634
Journal Article
Recenzirano
Skin-interfaced microfluidic systems help assess health status and chemical exposure.
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