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The Journal of Applied Laboratory... Sep 2023Body fluid testing in the clinical chemistry laboratory is a cornerstone in the diagnostic workup of pathological effusions. Laboratorians may not be aware of the... (Review)
Review
BACKGROUND
Body fluid testing in the clinical chemistry laboratory is a cornerstone in the diagnostic workup of pathological effusions. Laboratorians may not be aware of the preanalytical workflows used in the collection of body fluids though the value is evident whenever processes change or issues arise. The analytical validation requirements can vary depending on the regulations dictated by the laboratories' jurisdiction and accreditor requirements. Much of analytical validation hinges on how useful testing is to clinical care. Usefulness of testing varies with how well established and incorporated the tests and interpretation are in practice guidelines.
CONTENT
Body fluid collections are depicted and described so clinical laboratorians have a basic appreciation of what specimens are submitted to the laboratory for testing. A review of validation requirements by major laboratory accreditation entities is presented. A review of the usefulness and proposed decision limits for common body fluid chemistry analytes is presented. Body fluid tests that show promise and those that are losing (or lost long ago) value are also reviewed.
SUMMARY
The total testing process from collection to result interpretation can be complicated and easily overlooked by the clinical laboratory. This review aims to improve the understanding and awareness of collections, validation, result interpretation, and provide an update on recent trends.
Topics: Humans; Body Fluids; Laboratories; Chemistry, Clinical; Clinical Laboratory Services; Laboratories, Clinical
PubMed: 37207691
DOI: 10.1093/jalm/jfad014 -
La Revue de Medecine Interne Sep 2018Diagnostic work-up of uveitis involves many uncertainties. Search for an etiology should take into account the epidemiology of uveitis and focus on the most severe... (Review)
Review
INTRODUCTION
Diagnostic work-up of uveitis involves many uncertainties. Search for an etiology should take into account the epidemiology of uveitis and focus on the most severe diseases or those, which can be treated. This work was undertaken to establish recommendations for the diagnosis work-up of uveitis.
METHODS
Recommendations were developed by a multidisciplinary panel of 15 experts, including internists, ophthalmologists and a rheumatologist and are based on a review of the literature with regard to effectiveness of investigations and the results of the ULISSE study, which is the first prospective study assessing the efficiency of a standardized strategy for the etiological diagnosis of uveitis. Children, immunocompromised patients, severe retinal vasculitis and specific ophthalmological entities are excluded from these recommendations.
RESULTS
Investigations should be first guided by the history and physical examination. Serological screening for syphilis is the only test appropriate in all forms of uveitis. If no diagnosis is made after this stage, we propose investigations guided by the anatomic characteristics of uveitis. It includes HLA B27 testing (in unilateral acute anterior non-granulomatous uveitis), serum angiotensin converting enzyme, interferon-gamma release assay and chest CT (chronic uveitis), cerebral MRI and anterior chamber tap with IL10 analysis (intermediate or posterior uveitis in patients over 40 years). Investigations ordered in the absence of orientation are almost always unhelpful.
CONCLUSIONS
We propose a strategy for the etiologic diagnosis of uveitis. The recommendations should be updated regularly. The efficiency of more invasive investigations has yet to be evaluated.
Topics: Adult; Child; Diagnostic Techniques, Ophthalmological; Expert Testimony; Humans; Mass Screening; Practice Guidelines as Topic; Uveitis
PubMed: 29122311
DOI: 10.1016/j.revmed.2017.09.015 -
PloS One 2023Diagnostic network optimization (DNO) is an analytical approach that enables use of available country data to inform evidence-based decision-making to optimize access to...
Optimizing diagnostic networks to increase patient access to TB diagnostic services: Development of the diagnostic network optimization (DNO) approach and learnings from its application in Kenya, India and the Philippines.
Diagnostic network optimization (DNO) is an analytical approach that enables use of available country data to inform evidence-based decision-making to optimize access to diagnostic services. A DNO methodology was developed using available data sources and a commercial supply chain optimization software. In collaboration with Ministries of Health and partners, the approach was applied in Kenya, India and the Philippines to map TB diagnostic networks, identify misalignments, and determine optimal network design to increase patient access to TB diagnostic services and improve device utilization. The DNO analysis was successfully applied to evaluate and inform TB diagnostic services in Kenya, India and the Philippines as part of national strategic planning for TB. The analysis was tailored to each country's specific objectives and allowed evaluation of factors such as the number and placement of different TB diagnostics, design of sample referral networks and integration of early infant diagnosis for HIV at national and sub-national levels and across public and private sectors. Our work demonstrates the value of DNO as an innovative approach to analysing and modelling diagnostic networks, particularly suited for use in low-resource settings, as an open-access approach that can be applied to optimize networks for any disease.
Topics: Humans; Philippines; Kenya; Referral and Consultation; Diagnostic Services; India
PubMed: 38033120
DOI: 10.1371/journal.pone.0279677 -
The Medical Clinics of North America Jul 2018Substance use disorders are highly prevalent and are a large driver of costly inpatient medical care; however, historically the substance use disorder has gone... (Review)
Review
Substance use disorders are highly prevalent and are a large driver of costly inpatient medical care; however, historically the substance use disorder has gone unaddressed during an inpatient stay. Inpatient addiction consult services are an important intervention to use the reachable moment of hospitalization to engage patients and initiate addiction treatment. Addiction consultation involves taking an addiction-specific history, motivational interviewing, withdrawal symptom management, and initiation of long-term pharmacotherapy. Addiction consult services have the potential to decrease readmissions and utilization costs for medical systems and improve substance-related outcomes for patients.
Topics: Alcoholism; Diagnostic Tests, Routine; Hospitalization; Humans; Inpatients; Mass Screening; Medical History Taking; Motivational Interviewing; Patient Care Team; Severity of Illness Index; Substance Withdrawal Syndrome; Substance-Related Disorders
PubMed: 29933817
DOI: 10.1016/j.mcna.2018.03.001 -
European Journal of Human Genetics :... Sep 2016Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with... (Review)
Review
Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory.
Topics: BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Clinical Laboratory Services; Female; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Ovarian Neoplasms; Sequence Analysis, DNA
PubMed: 27514839
DOI: 10.1038/ejhg.2016.94 -
BMC Health Services Research Sep 2022Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a...
BACKGROUND
Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a connection to the workplace and job demands, and interdisciplinary collaboration between key stakeholders at the interface of rehabilitation and occupational medicine. We have developed a comprehensive diagnostic service to clarify intervention needs for employees with health restrictions and limited work ability: this service is initiated by occupational health physicians.
METHODS/DESIGN
Our randomized controlled trial tests the effectiveness of a comprehensive diagnostic service for clarifying intervention needs (GIBI: Comprehensive clarification of the need for intervention for people whose work participation is at risk). The comprehensive intervention comprises three elements: initial consultation, two-day diagnostics at a rehabilitation center and follow-up consultations. We will include 210 employees with health restrictions and limited work ability, who are identified by occupational health physicians. All individuals will receive an initial consultation with their occupational health physician to discuss their health, work ability and job demands. After this, half the individuals are randomly assigned to the intervention group and the other half to the waiting-list control group. Individuals in the intervention group start two-day diagnostics, carried out by a multi-professional rehabilitation team in a rehabilitation center, shortly after the initial consultation. The diagnostics will allow first recommendations for improving work participation. The implementation of these recommendations is supported by an occupational health physician in four follow-up consultations. The control group will receive the comprehensive two-day diagnostic service and subsequent follow-up consultations six months after the initial consultation. The primary outcome of the randomized controlled trial is self-rated work ability assessed using the Work Ability Score (0 to 10 points) six months after study inclusion. Secondary outcomes include a range of patient-reported outcomes regarding physical and mental health, impairment, and the physical and mental demands of jobs.
DISCUSSION
This randomized controlled trial is designed to test the effects of a new complex intervention involving a comprehensive clarification of intervention needs in order to promote work participation and prevent the worsening of health and work disability.
TRIAL REGISTRATION
German Clinical Trials Register (DRKS00027577, February 01, 2022).
Topics: Diagnostic Services; Humans; Medicine; Occupational Health Physicians; Occupational Medicine; Randomized Controlled Trials as Topic; Rehabilitation Centers
PubMed: 36085150
DOI: 10.1186/s12913-022-08513-1 -
Omics : a Journal of Integrative Biology Dec 2017Precision medicine, genomic and diagnostic services are no longer limited to developed countries. This broadening in geography of biomarker applications and omics... (Review)
Review
Precision medicine, genomic and diagnostic services are no longer limited to developed countries. This broadening in geography of biomarker applications and omics diagnostics also demands empirical study of implementation, diagnostic testing, and counseling practices in the field. For example, the Malaysian population has large ethnic diversity and high prevalence of genetic disorders such as hemoglobinopathies and metabolic disorders. Increased morbidity and mortality from such diseases have a direct impact on society and health system sustainability and for this, decision-making becomes of outmost importance. We report here on our findings on the landscape of genomic testing and genetic counseling services in Malaysia. We first defined the framework of all Malaysian stakeholders that offer genomics services and next, we identified the related information gaps, as depicted through the service providers' online websites. Our research framework revealed that there is a very diverse spectrum of genomics services in Malaysia, in which wet- and dry-laboratory services integrate. Moreover, we identify the current gaps and possible remedies to improve the quality of genomic and predictive analytics, not to mention considerations to ensure robust ethics and responsible innovation. To our knowledge, this is the first such study to be performed for a Southeast Asian country. Our genomics and precision medicine services mapping strategy presented in this study may serve as a model for field assessment at regional, national, and international levels as precision medicine is expanding globally and new governance challenges and opportunities continue to emerge for smart implementation science.
Topics: Genetic Counseling; Genetic Testing; Genomics; Humans; Malaysia; Precision Medicine; Public Health
PubMed: 29173101
DOI: 10.1089/omi.2017.0136 -
Journal of Diabetes Science and... Feb 2016Modern ophthalmic practice in the United Kingdom is faced by the challenges of an aging population, increasing prevalence of systemic pathologies with ophthalmic... (Review)
Review
Modern ophthalmic practice in the United Kingdom is faced by the challenges of an aging population, increasing prevalence of systemic pathologies with ophthalmic manifestations, and emergent treatments that are revolutionary but dependent on timely monitoring and diagnosis. This represents a huge strain not only on diagnostic services but also outpatient management and surveillance capacity. There is an urgent need for newer means of managing this surge in demand and the socioeconomic burden it places on the health care system. Concurrently, there have been exponential increases in computing power, expansions in the strength and ubiquity of communications technologies, and developments in imaging capabilities. Advances in imaging have been not only in terms of resolution, but also in terms of anatomical coverage, allowing new inferences to be made. In spite of this, image analysis techniques are still currently superseded by expert ophthalmologist interpretation. Teleophthalmology is therefore currently perfectly placed to face this urgent and immediate challenge of provision of optimal and expert care to remote and multiple patients over widespread geographical areas. This article reviews teleophthalmology programs currently deployed in the United Kingdom, focusing on diabetic eye care but also discussing glaucoma, emergency eye care, and other retinal diseases. We examined current programs and levels of evidence for their utility, and explored the relationships between screening, teleophthalmology, disease detection, and monitoring before discussing aspects of health economics pertinent to diabetic eye care. The use of teleophthalmology presents an immense opportunity to manage the steadily increasing demand for eye care, but challenges remain in the delivery of practical, viable, and clinically proven solutions.
Topics: Diabetic Retinopathy; Diagnostic Techniques, Ophthalmological; Humans; Mass Screening; Telemedicine; United Kingdom
PubMed: 26830492
DOI: 10.1177/1932296816629983 -
Therapeutische Umschau. Revue... Feb 2015
Topics: Clinical Laboratory Services; Clinical Laboratory Techniques; Diagnostic Tests, Routine; Humans; Practice Patterns, Physicians'; Switzerland
PubMed: 25630287
DOI: 10.1024/0040-5930/a000646 -
Journal of Paediatrics and Child Health Nov 2019To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU).
AIM
To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU).
METHODS
This was a retrospective medical record review of NICU patients referred for genetics consultation at three time points over a 9-year period at a single centre to determine referral indications, genetic consultation outcomes and time to diagnosis.
RESULTS
The number of NICU patients referred for genetics consultation increased from 44 in 2007 to 95 in 2015. The proportion of NICU patients suspected of having a genetic condition following clinical geneticist assessment remained stable, averaging 5.3% of all admissions. The proportion of patients receiving a confirmed diagnosis rose from 21% in 2007 to 53% in 2015, with a shift from primarily chromosomal abnormalities to a broad range of monogenic disorders, increasingly diagnosed by WES as a first-tier test. The average age at diagnosis in 2015 was 19 days (range 12-38 days) for chromosomal abnormalities and 138 days (range 10-309 days) for monogenic conditions.
CONCLUSIONS
The adoption of new genetic technologies at our centre has increased the proportion of patients receiving a confirmed genetic diagnosis. This study provides important benchmark data to measure further improvements as turn-around times for genomic testing decrease.
Topics: Australia; Female; Genetic Testing; Humans; Intensive Care Units, Neonatal; Male; Microarray Analysis; Retrospective Studies; Exome Sequencing
PubMed: 30756437
DOI: 10.1111/jpc.14398