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At least 19 recordsLinked to original sources
PubMed1975

[The diagnostic significance of immunoglobulin determination in chronic liver diseases. I. Differential diagnostic accuracy of immunoglobulin changes and enzyme activities (author's transl)].

715 patients with hepatobiliary diseases came for examination, who because of the morphological findings are classified in diagnostic groups. The immunoglobulin measurements of IGG, IGA, IGM were determined and assessed in combination with enzymatic investigations of GOT, GPT, AP and GGTP. Typical group-specific changes were only found in primary biliary liver diseases and toxic cirrhoses of the liver, all acute or chronic inflammatory liver diseases could not be separated and by inference from the final diagnosis showed great errors in classification. Data on the raised mean levels of immunoglobulins in the individual diagnostic groups were demonstrable, but the range limits were so widely scattered that their differential diagnostic valence is of no consequence. Immunoglobulins may appear to be of interest for the observation of the course of liver diseases, but they are unsuitable for diagnostic purposes.

Acute Disease↗
PubMed2026

Molecular Diagnostics for WHO Priority Bacterial Pathogens: A Bibliometric Mapping of Diagnostic Platforms, Resistance Markers, and Antimicrobial Resistance Research Trends.

Antimicrobial resistance (AMR) constrains effective treatment and carries implications for infection control, surveillance, and public health. The World Health Organization (WHO) priority bacterial pathogen framework has intensified the need for diagnostic innovation by redefining research priorities around organisms combining high disease burden with complex resistance profiles. Molecular diagnostics have accordingly moved beyond culture-based workflows, integrating rapid pathogen identification, resistance-marker detection, genomic surveillance, and clinical decision support. The present study conducted a bibliometric mapping of the literature on WHO priority pathogens. Rather than addressing resistance at a general level or a single pathogen or technology, it integrates priority pathogens, molecular platforms, and resistance markers within a single framework, tracing their joint thematic and temporal evolution along an explicit pathogen-platform-marker axis. Scopus-indexed articles and reviews (2000-2025) were retrieved, yielding 1746 publications after screening adapted from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Analyses used Bibliometrix/Biblioshiny, R, and VOSviewer. The literature expanded markedly after 2018, led by China and the United States. Methicillin-resistant Staphylococcus aureus (MRSA), Mycobacterium tuberculosis, Enterococcus faecium, and the Enterobacterales-carbapenemase axis constituted the principal thematic cores, whereas conventional polymerase chain reaction (PCR)/nucleic acid amplification testing (NAAT) and whole-genome sequencing were the dominant platforms. Overall, the field has evolved from pathogen detection into an AMR-centered translational domain encompassing resistance prediction, genomic epidemiology, surveillance, and clinical decision support. Diagnostic development, stewardship, and surveillance depend on hybrid workflows coupling rapid marker-targeted assays with genome-based characterization, delivering actionable resistance within clinically meaningful timeframes, and extending coverage to underrepresented pathogens and platforms.

Humans↗
PubMed1979

Diagnostic and differential diagnostic aspects in histiocytosis X diseases.

Diagnostic and differential diagnostic aspects of the known manifestations of histiocytosis X are discussed with respect to our own findings. It is our considered opinion that the term "histiocytosis X" should not be employed in isolation for diagnostic purposes. Rather, one should make an effort to designate the disease exactly in stating the prognosis for a particular patient. Both clinical and morphologic parameters must be considered in making this exact diagnosis.

Diagnosis, Differential↗
PubMedDate not supplied

The impact of a physician assistant in diagnostic radiology [PA-DR] on the delivery of diagnostic radiologic clincial services.

A program to train highly selected, experienced radiologic technologists to become Physician Assistants in Diagnostic Radiology [PA-DRs] was initiated at the University of Kentucky Medical Center in 1970. The initial postgraduate year of employment in several different radiologic environments for the first twelve trainees has been evaluated. Their work activities, including examinations that otherwise would have been performed by a radiologist and the number of radiographs screened for evidence of diseases, were analyzed. Studies during their training show they perform these activities accurately. Lastly, the economic impact of PA-DRs and their acceptability to patients and other professionals were evaluated. The PA-DRs spent a majority of their time in activities for which they were trained. Calculated yearly "earnings" of the PA-DRs averaged +31,164. Their salaries ranged +18-25,000. Each PA-DR averaged saving 34% of the employing radiologist's time. They were well accepted by professional colleagues and patients.

Costs and Cost Analysis↗
PubMed1978

The diagnostic laboratory and its relationship to practitioners. Diagnostic laboratory professional staff.

Diagnostic services provided to practitioners include necropsy, histopathology, bacteriology, virology, parasitology, immunopathology, clinical pathology and toxicology. Services are also available at the college in avian and aquatic diseases. The laboratory expects to continually upgrade its services through the addition of appropriate tests, re-evaluation of existing tests, development of methods for more convenient specimen collection and shipment, increased responsiveness to veterinarians' needs, epidemiological investigations, and continuing education.

Animals↗
PubMed1975

[Cerebral sclerosis. Diagnostic criteria and differential diagnostic consideration in practice].

In"cerebral arteriosclerosis" the diffuse sclerotic involvement of the cerebral vessels may produce acute softening of cerebral tissue. However this paper concentrates mainly on the clinical symptomatology which, in the absence of major vascular accidents, is characterized from the psychopathologic viewpoint by acute confusional states, aggressive behaviour, fluctuating loss of memory, disturbances of concentration and finally dementia. The chief neurologic symptoms are motor disturbance with short-stepping gait, stooped position of the body, pseudobulbar symptoms with dysarthric speech and disturbances of swallowing, and increased perioral reflexes. A complete case history and a thorough neurologic and psychopathologic examination are the most important factors in diagnosis, while ancillary methods are of value only for differential diagnosis. Prophylaxis and therapy (cardiotherapy, treatment of diabetes and hypertension, lowering of serum cholesterol and sedation) are discussed. In the differential diagnosis of dementia in the elderly patient consideration should be given to chronic vascular diseases, degenerative cerebral atrophies, brain tumors, low pressure hydrocephalus, progressive paralysis and some other rare brain conditions.

Age Factors↗
PubMed2026

Diagnostic communication in functional neurological disorder: A systematic review and meta-analysis of patient acceptance and clinical outcomes.

OBJECTIVES: Diagnostic disclosure is a key therapeutic moment in Functional Neurological Disorder (FND). This systematic review aimed to evaluate quantitative evidence on diagnostic acceptance, understanding, satisfaction, symptom outcomes, and healthcare utilisation following diagnostic disclosure in FND, and to conduct a meta-analysis of diagnostic acceptance. METHODS: Systematic searches of PubMed, Scopus, PsycINFO, and Web of Science identified quantitative studies in adults with FND. Screening followed predefined inclusion criteria. Data were extracted using a structured template and risk of bias was assessed using the Newcastle-Ottawa Scale. A random-effects meta-analysis of proportions was conducted using the Freeman-Tukey transformation. RESULTS: Fifteen studies were included, four of which contributed to the meta-analysis (n = 481). Reported diagnostic acceptance rates ranged from 38.7% to 90%, although the timing and method of assessment varied across studies. Pooled acceptance was 0.68 (95% CI 0.44-0.88), with substantial heterogeneity. Structured or reinforced communication was frequently associated with improved understanding and satisfaction, although its superiority for diagnostic acceptance was not established. In some studies, diagnostic acceptance was associated with more favourable clinical outcomes, although findings were inconsistent. Some studies reported reductions in healthcare utilisation or costs following satisfactory diagnostic explanation, whereas others found no sustained overall reduction. CONCLUSIONS: Diagnostic communication in FND is associated with differences in acceptance, understanding, and downstream clinical and healthcare outcomes. Approximately two-thirds of patients were reported as accepting the diagnosis following disclosure, although the timing and method of assessment varied substantially across studies. Empathic and evidence-informed communication may enhance understanding and engagement, although its effects on healthcare use and recovery remain uncertain. PRACTICE IMPLICATIONS: Diagnostic disclosure should be delivered clearly, empathically, and with reinforcement over time. Written information, reputable educational resources, and opportunities for follow-up clarification may support patient understanding and engagement, although stronger comparative evidence is needed.

Humans↗
PubMed2025

RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: A systematic review.

PURPOSE: Transcriptomics by way of RNA sequencing (RNAseq) has emerged as a means to increase the diagnostic yield in genetic conditions. In this systematic review, we focus on the contribution of transcriptomics to improve the diagnostic yield in neurodevelopmental disorders. METHODS: We performed a systematic literature search in PubMed until January 2024, including articles describing diagnostic RNAseq on at least 1 individual with a primary neurodevelopmental phenotype. We extracted data on cohort size, phenotype, sample tissue, previously used diagnostic methods, added diagnostic yield of RNAseq, the use of control samples, and technical aspects of the RNA sequencing methodology. RESULTS: A total of 17 articles were eligible for inclusion in the systematic review. We found an average added diagnostic yield of 15.5% through RNA sequencing for individuals with neurodevelopmental disorders. There is heterogeneity in the tissue type, reported quality measures, and the computational pipeline. CONCLUSION: The significantly increased diagnostic yield demonstrates the value of this novel tool in the diagnostic setting of neurodevelopmental disorders. Our results offer an overview of common methodologies for RNAseq and allow us to formulate recommendations for genetic labs and clinicians when implementing RNAseq as a diagnostic tool. Lastly, we provide recommendations for future publications to increase transparency and reproducibility.

Humans↗
PubMed2025

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID) is among the most common neurodevelopmental disorders, with up to half of cases are attributed to genetic factors. Chromosome microarray (CMA) has traditionally been the primary genetic test for idiopathic GDD/ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) have recently emerged, substantially increasing diagnostic yields in these populations. METHODS: We conducted a comprehensive literature search of PubMed, Scopus, EMBASE, and the Cochrane Library from inception to April 29, 2025. Studies reporting the diagnostic utility of these tests in children with GDD/ID were included and analyzed. RESULTS: A total of 102 studies, comprising 55,752 children, were reviewed. The pooled diagnostic yield of WES was 0.37 (95% CI: 0.33-0.41; I2 = 93%), significantly higher than that of CMA at 0.19 (95% CI: 0.16-0.21; I2 = 95%). Subgroup analyses showed that WES yielded significantly higher diagnostic rates than CMA in both same-sample comparisons (OR = 2.27, 95% CI: 1.08-4.78) and different-sample comparisons (OR = 1.65, 95% CI: 1.15-2.37). Only one study evaluated WGS, reporting a diagnostic yield of 0.27. Meta-regression revealed a significant association between CMA diagnostic yield and the proportion of male participants (p&#x2009;<&#x2009;0.01), but not with WES. No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities. CONCLUSION: In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted.

Humans↗
PubMed2025

Hierarchical integration of mNGS, PCR, and other conventional methods for precision TB diagnostics.

UNLABELLED: This study systematically compared the diagnostic accuracy of seven assays for detecting the Mycobacterium tuberculosis complex, including metagenomic next-generation sequencing (mNGS), droplet digital polymerase chain reaction, real-time quantitative polymerase chain reaction, EasyNAT MTC, GeneXpert MTB/RIF, interferon-gamma release assay (IGRA), and acid&#x2012;fast staining (AFS). We try to select appropriate combinations of tuberculosis (TB) detection methods for regions with varying levels of medical resources, based on sensitivity, cost-effectiveness, and operational feasibility. A retrospective analysis was conducted on 141 samples collected from patients with suspected active TB at The First Affiliated Hospital of Sun Yat-sen University between April 2022 and April 2024. Among these samples, there were 100 cases assigned to the case group and 41 cases to the control group, based on the tuberculosis diagnostic criteria. Historical data for Xpert, IGRA, and AFS were collected, and parallel experiments using mNGS, droplet digital PCR (ddPCR), real-time quantitative polymerase chain reaction (RT-qPCR), and EasyNAT were conducted on all samples. Diagnostic performance was evaluated by comparing it with the final clinical diagnoses. Sensitivity, specificity, positive predictive value, negative predictive value, and receiver operating characteristic (ROC) curve analysis were conducted, along with DeLong tests for statistical comparison. Compared with the final clinical diagnosis, mNGS demonstrated the highest sensitivity (100%), followed by IGRA (79.2%), EasyNAT (79.1%), RT-qPCR (78.0%), ddPCR (75.8%), Xpert (75.3%), and AFS (16.7%). The specificity was 100% for both Xpert and AFS, followed by ddPCR (97.6%), RT-qPCR (95.1%), EasyNAT (92.7%), IGRA (72.7%), and mNGS (75.6%). ROC analysis revealed a significantly greater area under the ROC curve for mNGS (0.878) than for ddPCR (0.817, P = 0.031). DeLong tests revealed statistically significant differences in diagnostic performance between mNGS and ddPCR (P < 0.05) and between IGRA and AFS (P < 0.01). mNGS uniquely identified the pathogens involved in co-infection and quantified pathogen-specific sequencing reads. Through a comprehensive evaluation of the diagnostic efficacy, cost-effectiveness, and timeliness of tuberculosis detection methods, we propose corresponding combinations of TB testing approaches for regions with different healthcare resources. For undeveloped regions with limited resources, a combination of AFS +EasyNAT + chest X-ray is recommended. Primary care facilities may additionally employ IGRA + RT-qPCR. Intermediate-level hospitals can incorporate Xpert MTB/RIF for drug resistance testing, while tertiary hospitals or specialized centers should, on the basis of these fundamental tests, utilize mNGS for diagnosis and ddPCR for therapeutic monitoring in patients with complex mixed infections. IMPORTANCE: This study is the first to comprehensively evaluate the diagnostic efficacy, cost-effectiveness, and timeliness of seven TB detection methods in a single-center cohort. Our findings provide actionable solutions for optimizing TB diagnostics in diverse healthcare ecosystems, aligning with the WHO's End TB Strategy to ensure equitable access to rapid diagnostics.

Humans↗