Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (780 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Diagnoses; Diagnose; Diagnoses and Examinations; Diagnoses and Examination; Examination and Diagnoses; Examinations and Diagnoses; Antemortem Diagnosis; Antemortem Diagnoses.
Where it fits in the MeSH classification
- Broader topics
- Analytical, Diagnostic and Therapeutic Techniques and Equipment Category
- Narrower topics
- Clinical Decision-Making; Delayed Diagnosis; Diagnosis, Computer-Assisted; Diagnosis, Differential; Diagnosis, Dual (Psychiatry); Diagnostic Errors; Diagnostic Techniques and Procedures; Early Diagnosis; Incidental Findings; Overdiagnosis; Prodromal Symptoms; Prognosis; Theranostic Nanomedicine
Research landscape
PubMed indexes 10,237,971 records tagged with the MeSH heading “Diagnosis” (counts retrieved 2026-11-04). 1,793,111 of them (17.5%) were published from 2020 onward, and the busiest period so far is through 1999 with 3,422,168 records.
Reviews account for 933,264 records (9.1%) and meta-analyses for 99,011. Randomized controlled trials number 367,328 (3.6%) as a share of all records on the topic.
Show the data
| Period | Records |
|---|---|
| through 1999 | 3,422,168 |
| 2000-2009 | 2,086,807 |
| 2010-2019 | 2,935,885 |
| 2020 onward | 1,793,111 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 933,264 | 9.1% |
| Meta-analyses | 99,011 | 1.0% |
| Randomized controlled trials | 367,328 | 3.6% |
Method: PubMed query "Diagnosis"[MeSH Terms] with publication-type and date filters, retrieved 2026-11-04.
Reading the evidence in diagnostics and medical technology
A test or device is judged by how well it detects a condition, how often it gives false alarms or misses cases, and whether using it improves outcomes for people. Accuracy depends on who is tested and how common the condition is, so a test that performs well in a specialist hospital can perform differently in the community. Check the reference standard, the population studied, the sensitivity and specificity and whether results were confirmed in a separate group.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Adapted Screening Methods for Gestational Diabetes in Low-Resource Settings-A Narrative Review of Observational Studies | 2026 | Review article Design not recorded in structured metadata | 1 | cc by PMID 42960867 · DOI · PMC13721168 |
| Can Spleen T1 Mapping Be Used as a Marker of Adenosine Response in Cardiac MRI? | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42956826 · DOI · PMC13719266 |
| Adjusting for Medication Use in GWAS and Its Impact on Mendelian Randomisation Analyses: An Example of Systolic Blood Pressure in UK Biobank | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42937089 · DOI · PMC13711480 |
Adapted Screening Methods for Gestational Diabetes in Low-Resource Settings-A Narrative Review of Observational Studies [1]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionGestational diabetes mellitus (GDM) affects approximately 14%-17% of pregnancies worldwide, with the vast majority of cases occurring in low-resource settings.
- Closing excerpt
- Further research and validation are necessary for all approaches to safely reduce the number of OGTTs without compromising diagnostic accuracy.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (230 words)
IntroductionGestational diabetes mellitus (GDM) affects approximately 14%-17% of pregnancies worldwide, with the vast majority of cases occurring in low-resource settings. There is an ongoing debate concerning the optimal screening and diagnosis of GDM, as the current diagnostic recommendation of performing a universal oral glucose tolerance test (OGTT) for every pregnant woman (WHO, 2013) is resource-intensive and can potentially lead to overdiagnosis. This narrative literature reviews aimed to evaluate the diagnostic sensitivity of alternative, less resource-demanding screening methods that could be appropriately used for low-resource settings.MethodsFor this narrative review, observational studies were identified via PubMed. The PRISMA guidelines were used to guide this process. As the studies investigated very diverse screening methods, no statistical meta-analysis was performed due to methodological heterogeneity; instead, the results were synthesized narratively.ResultsTen studies were included, examining various alternatives such as fasting plasma glucose thresholds (sensitivity 95.6%), selective screening strategies (sensitivity 73.6%), capillary blood glucose testing (sensitivity 67.9%, 79.3%, and 92.5% for different fasting cut points), and glycated hemoglobin (HbA1c) measurements (sensitivity approximately 84%, depending on the cut-offs).DiscussionAll alternatives showed inferior sensitivity compared to the standard OGTT; therefore, none can currently substitute the OGTT. However, basically all approaches have the potential to either reduce the number of OGTTs or improve access to GDM screening for more patients. Further research and validation are necessary for all approaches to safely reduce the number of OGTTs without compromising diagnostic accuracy.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42960867 · DOI · PMC13721168
Can Spleen T1 Mapping Be Used as a Marker of Adenosine Response in Cardiac MRI? [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Splenic switch-off, defined as the visible reduction in splenic perfusion during adenosine stress, can be used as a marker of adequate adenosine response in cardiac stress MRI studies, which can be assessed after the study.
- Closing excerpt
- This work indicates that the splenic T1 value change has the potential to identify splenic switch-off during adenosine stress CMR in a clinical population.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (289 words)
Splenic switch-off, defined as the visible reduction in splenic perfusion during adenosine stress, can be used as a marker of adequate adenosine response in cardiac stress MRI studies, which can be assessed after the study. Moreover, there is some evidence regarding the use of T1 mapping for the evaluation of splenic switch-off during the study. The aim of this work is to further investigate splenic T1 mapping as a method for quantitatively assessing splenic switch-off, given the limited existing data. Patients with suspected coronary artery disease were scanned at 1.5 T with the routine clinical protocol for stress perfusion cardiac magnetic resonance (CMR), including a T1 mapping sequence at rest and during adenosine stress. Visual assessment of first-pass images was used as the reference standard for detecting splenic switch-off. Semi-quantitative analysis of splenic perfusion was performed based on the signal intensity curves and signal changes (ΔSI) were calculated. T1 maps were used to obtain T1 value changes in the spleen from rest to stress (ΔT1spleen). Statistical analysis was assessed using an align rank transform followed by a mixed analysis of variance, with Bonferroni corrected post hoc tests. A total of 74.5% (n = 35/47) of analyzed patients experienced splenic switch-off according to the visual assessment. Statistically significant differences were found in splenic T1 between rest and stress only in the switch-off group (p s = 0.37, p = 0.01) between splenic ΔT1 and ΔSI based on first-pass. ROC curves demonstrated that ΔT1spleen classified the failed switch-off and positive switch-off groups with a specificity of 75% and a sensitivity of 80% (AUC: 81.2%, 95% CI: 66.7%-95.8%). This work indicates that the splenic T1 value change has the potential to identify splenic switch-off during adenosine stress CMR in a clinical population.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42956826 · DOI · PMC13719266
Adjusting for Medication Use in GWAS and Its Impact on Mendelian Randomisation Analyses: An Example of Systolic Blood Pressure in UK Biobank [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Medication use is common in large-scale population cohorts, and can modify phenotypic traits of interest.
- Closing excerpt
- Finally, we demonstrate that medication adjustment can reveal potentially novel genetic loci, offering additional insight into the biology of a trait.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (261 words)
Medication use is common in large-scale population cohorts, and can modify phenotypic traits of interest. This can potentially bias effect estimates in genome-wide association studies (GWAS) and impact downstream analyses such as Mendelian randomisation (MR). The best approach to account for medication use in GWAS is unclear. In this study, we compared seven different methods of adjusting for antihypertensive use in a systolic blood pressure (SBP) GWAS of 407,960 White British individuals in the UK Biobank. We found that direct adjustments to measured SBP (adding constants, class-specific constants, censored normal regression) in general yielded a greater number of genome-wide significant variant associations and unmasked stronger GWAS effect estimates than unadjusted measures of SBP. Adjustment for class-specific constants showed the greatest difference relative to unadjusted GWAS. Restriction methods which limit the sample to either untreated individuals or age ranges with low levels of antihypertensive use had less power, due to reduced sample sizes. Effect estimates of treated individuals were deflated relative to untreated individuals, demonstrating the importance of medication adjustment. In MR analyses, we found no substantial differences in inverse-variance weighted (IVW) estimates when using differing exposure GWAS methods in estimation of the effect of SBP on coronary artery disease. Larger variations in IVW estimates were observed for the causal effect of body mass index on SBP across adjustment approaches. This suggests that bias may arise in MR analyses when the exposure included in the estimation affects the probability of treatment. Finally, we demonstrate that medication adjustment can reveal potentially novel genetic loci, offering additional insight into the biology of a trait.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42937089 · DOI · PMC13711480
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Radiomics-Based AI for Predicting Neoadjuvant Immunochemotherapy Pathological Response in Non-Small Cell Lung Cancer: Systematic Review and Meta-Analysis [4]
- Research article Head-to-head comparison of [18F]-mFBG versus [123I]-MIBG in neuroblastoma: a systematic review and meta-analysis [5]
- Research article Sex-Related Differences in Outcomes and Thresholds for Intervention in Primary Mitral Regurgitation: A Systematic Review and Meta-Analysis [6]
- Research article A systematic review and meta-analysis on heat thresholds for maternal health and birth outcomes [7]
- Research article MRI features of parenchymal neuro-Behçet's disease: a systematic review and meta-analysis [8]
- Research article Indocyanine Green Fluorescent Cholangiography in Laparoscopic Cholecystectomy: A Systematic Review and Meta-analysis [9]
Full-text reviews on EvidenceLib
Open-access review articles about this topic, reproduced in full with authors, licence and references.
Comprehensive Insights into Tracheoesophageal Fistula Pathophysiology, Diagnosis, Treatment, and Future Directions
Gang Li, Zhe Wang, Jia Liu et al. · Advanced Science 2025 · CC BY 4.0
Adenomyosis and Adolescence: A Challenging Diagnosis and Complex Management
Francesco Giuseppe Martire, Claudia d’Abate, Giorgia Schettini et al. · Diagnostics 2024 · CC BY 4.0
Alzheimer's disease: a comprehensive review of epidemiology, risk factors, symptoms diagnosis, management, caregiving, advanced treatments and associated challenges
Saeid Safiri, Amir Ghaffari Jolfayi, Asra Fazlollahi et al. · Frontiers in Medicine 2024 · CC BY 4.0
Mitochondrial Transfer as a Novel Therapeutic Approach in Disease Diagnosis and Treatment
Vicente Javier Clemente-Suárez, Alexandra Martín-Rodríguez, Rodrigo Yáñez-Sepúlveda et al. · International Journal of Molecular Sciences 2023 · CC BY 4.0
Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care
Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin et al. · JBMR Plus 2023 · CC BY 4.0
References
- Kittelmann M, Monod C, Mosimann B. Adapted Screening Methods for Gestational Diabetes in Low-Resource Settings-A Narrative Review of Observational Studies. . 2026. PMID 42960867 · DOI · PMC13721168
- Solis-Barquero SM, Ezponda A, Aramendía-Vidaurreta V, Vidorreta M, Pascual M, Bastarrika G, et al.. Can Spleen T1 Mapping Be Used as a Marker of Adenosine Response in Cardiac MRI?. . 2026. PMID 42956826 · DOI · PMC13719266
- Yap AJY, Hanson AL, Griffith GJ, Sanderson E. Adjusting for Medication Use in GWAS and Its Impact on Mendelian Randomisation Analyses: An Example of Systolic Blood Pressure in UK Biobank. . 2026. PMID 42937089 · DOI · PMC13711480
- Jiang Z, Xu Y, Jia S, Liu H. Radiomics-Based AI for Predicting Neoadjuvant Immunochemotherapy Pathological Response in Non-Small Cell Lung Cancer: Systematic Review and Meta-Analysis. J Med Internet Res. 2026. PMID 42596052 · DOI · PMC13472773
- Albano D, Bertagna F, Piccardo A, Fiz F, Treglia G. Head-to-head comparison of [18F]-mFBG versus [123I]-MIBG in neuroblastoma: a systematic review and meta-analysis. Pediatr Radiol. 2026. PMID 42418017 · DOI · PMC13668891
- Long E, Hahn RT, Gulati M, Demetrescu C, Shah BN, Bhattacharya S, et al.. Sex-Related Differences in Outcomes and Thresholds for Intervention in Primary Mitral Regurgitation: A Systematic Review and Meta-Analysis. JACC Cardiovasc Imaging. 2026. PMID 42435019 · DOI
- Heil CS, Ioannou LG, Alce G, Frennert S, Gao C. A systematic review and meta-analysis on heat thresholds for maternal health and birth outcomes. Nat Commun. 2026. PMID 42624863 · DOI · PMC13493939
- Alnajashi H, Almohammed HAJ, Morad AS, Bin Saddiq BW, Kushara KF, Khan TN, et al.. MRI features of parenchymal neuro-Behçet's disease: a systematic review and meta-analysis. Front Neurol. 2026. PMID 42687938 · DOI · PMC13533666
- Kushara KF, Morad AS, Bin Saddiq BW, Ali J Almohammed H, Aldawasri WA, Aljuaid RW, et al.. Indocyanine Green Fluorescent Cholangiography in Laparoscopic Cholecystectomy: A Systematic Review and Meta-analysis. J Surg Res. 2026. PMID 42566917 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.