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PubMed1991

Utility of combining two diagnostic tests.

Methods for evaluating a single diagnostic test with reference to the disease prevalence in a given population include sensitivity, specificity, positive predictive value, negative predictive value, and accuracy. Patient disease status and, ultimately, the treatment course is determined by the outcome of these diagnostics. The advantage of ordering a single diagnostic test, or series of diagnostic tests is a concern of physicians. How much information is gained from using the results of two diagnostic tests, each designed to detect the same disease? Combining tests may be the optimal methodology for determining the disease status of the patient. We propose a systematic strategy for optimizing (minimizing alpha and/or beta errors) the combination of two diagnostic tests. This strategy is then illustrated by the use of data from Doppler ultrasound and ocular pneumoplethysmography in detecting carotid artery disease.

Carotid Artery Diseases↗

PubMed1994

Diagnostic certainty and potential for misclassification in exocrine pancreatic cancer. PANKRAS I Project Investigations.

Whereas over the last decade epidemiologic studies on exocrine pancreatic cancer (EPC) continued to show a remarkable heterogeneity in diagnostic criteria applied to define caseness, the actual magnitude and consequences of misclassification remain largely unexplored. The objectives were: (1) to estimate the degree of certainty with which cases of EPC are diagnosed in the two participating hospitals (to this end a diagnostic certainty classification (DCC) was developed; (2) to test whether characteristics of cases differed by degree of diagnostic certainty; and (3) to assess what influence different definitions of case might have on risk estimates for tobacco and alcohol. All cases with a discharge diagnosis of EPC who attended at the Hospital del Mar between 1980-90 and at the Hospital Son Dureta between 1983-90 were identified through their respective tumor registries, and their clinical records were reviewed. Only 52% of 140 cases were classified in the group with a higher probability of EPC (group H). Diagnostic certainty appeared somewhat greater among women (age-adjusted odds ratio [ORa] 1.60, p = 0.18). Group H showed a higher proportion of cases with an interval from first symptom to diagnosis < or = 1 month (ORa = 2.38, p < 0.05) and the proportion of adenocarcinomas was slightly higher than in less certain cases (group L) (p = 0.051). A radical treatment was exclusively attempted in group H (p < 0.001). DCC cut-off points had a significant effect on the proportion of smokers and of alcohol drinkers, as well as on the percent of cases with pathological (cytohistological) confirmation. The proportion of cases unlikely to be of pancreatic origin in spite of having pathological confirmation was high enough to cause significant misclassification bias. Because past exposure to certain risk factors may differ among cases with different diagnostic certainty, we suggest to initially include in the case group patients who in spite of lacking pathological confirmation have strong clinical evidence supporting the diagnosis of EPC; subsequently, risk estimates should be computed across strata of diagnostic certainty to assess whether heterogeneity exists. In exocrine pancreatic cancer the impact of misclassification of disease status upon etiologic and prognostic estimates deserves at least as much attention as misclassification of exposure.

Adenocarcinoma↗

PubMed2006

A quadratic model for combining quantitative diagnostic assessments from radiologist and computer in computer-aided diagnosis.

RATIONALE AND OBJECTIVES: Some computer-aided diagnosis (CAD) methods produce a quantitative diagnostic assessment (eg, likelihood of malignancy) based on computer image analysis that a radiologist who uses the computer aid must combine with his or her own assessment. Observer studies show that although CAD helps radiologists improve diagnostic performance, ad hoc use of computer aid can produce performance inferior to that of computer alone, indicating that radiologists are unable to incorporate computer assessment optimally into their final assessment. We describe a mathematical model for combining two correlated diagnostic assessments that may provide a basis for merging radiologists' ratings with computer assessments in a way that yields greater diagnostic accuracy than ad hoc merging by radiologists. MATERIALS AND METHODS: We calculate a likelihood ratio from the bivariate binormal model that describes joint probability density functions of latent decision variables of two correlated diagnostic assessments. To the extent that the bivariate binormal model is valid and that the model's parameters can be estimated reliably, results obtained in this way will be optimal because the likelihood ratio is the decision variable used by the ideal observer in any two-group classification task. We evaluated this method on two observer study datasets and in Monte Carlo simulations. RESULTS: This method produced better performance than achieved by radiologists when they incorporated computer assessment in an ad hoc way. Simulations show that with a large number of cases, this method can produce results indistinguishable from the ideal observer performance. CONCLUSIONS: This method can potentially help radiologists use quantitative computed diagnostic assessments optimally, thereby surpassing the computer in accuracy.

Analysis of Variance↗

PubMed2005

The challenge of systematic reviews of diagnostic and staging studies in cancer.

PURPOSE: Most diagnostic and staging studies focus on test performance characteristics while others may address long term clinical outcomes such as disease-free or overall survival, quality of life or cost. However, controversy remains as to which outcomes to measure and when long term outcomes based on large and costly randomized trials are required. METHODS: The comparative advantages for reviews of diagnostic and staging studies based on test performance characteristics in observational studies versus the assessment of outcomes in randomized controlled trials are presented. RESULTS: The measurement of diagnostic test performance is based on sensitivity, specificity, predictive value, the diagnostic odds ratio and Receiver Operating Characteristic (ROC) analysis. Alternatively, the clinical impact of a diagnostic test should consider the overall benefits and harms generally measured in terms of disease-free or overall survival, toxicity or quality of life and costs. Methods are available to systematically summarize these measures across studies, assess clinical and methodological heterogeneity and to evaluate the quality of studies. The advantages and disadvantages of studies of test performance or overall clinical impact are highlighted in the context of two examples: screening mammography and sentinel node biopsy. CONCLUSION: There appears to be an important role for systematic reviews of both studies of test performance and of long-term clinical impact in the evaluation of new diagnostic and staging procedures.

Diagnosis, Differential↗

PubMed2005

Does Doppler echography have a diagnostic role in patency assessment of internal thoracic artery grafts?

The amount of literature published over the past decade comparing coronary angiography with transthoracic Doppler echocardiography assessment of internal thoracic artery graft patency after CABG is substantial. There has been no review of the available literature, and conflicting reports of diagnostic accuracy have prevented routine use of transthoracic Doppler in graft patency assessment. Thus, this article reviews the available literature on diagnostic accuracy of transthoracic Doppler echocardiography of coronary bypass grafts. Relevant studies were identified and meta-analysis of diagnostic accuracy was performed. Study quality was assessed. Quantitative data synthesis included calculation of sensitivity, specificity, summary receiver operating characteristic curve analysis, pooled analysis and meta-regression of accuracy against study quality, publication date, angina, probe frequency and diagnostic criteria. Twenty studies of 929 patients produced 26 results included for analysis. Grafts were not visualized in 93 (10%) patients. Pooled sensitivity (85%) and specificity (94%) and diagnostic odds ratio (100.7) were high. SROC analysis showed an area under the curve of 0.96. Heterogeneity of results was due to variations in diagnostic criteria and study size. Subgroup analysis showed best performance in patients with postoperative angina (p = 0.014). Study quality did not affect results. Diastolic fraction less than 0.5 (sensitivity 89%, specificity 94%) was shown to be the best criterion for prediction of stenosis. Performance was lower using peak diastolic to systolic velocity ratio less than 1 (sensitivity 85%, specificity 86%). Transthoracic Doppler echography is effective in first-line assessment of left internal thoracic artery graft patency. It shows high specificity, prevents invasive investigations and improves in patients with postoperative angina. TDE is best used in combination with other non-invasive tests due to its inability to visualize the graft. The potential for use in postoperative coronary bypass patients is high.

Adult↗

PubMed2004

The diagnostic relevance of colour Doppler artefacts in carotid artery examinations.

PURPOSE: Physical and technical artefacts of the colour Doppler method are examined with regard to their diagnostic relevance for the carotid artery. MATERIALS AND METHODS: After recording all diagnostic problems arising from physical and technical artefacts in 30,000 consecutively carotid arteries, the quantitative significance of relevant artefacts was determined in minor subgroups of the collective. RESULTS: Acoustic shadowing causes diagnostic problems in morphological and haemodynamic evaluation of stenoses. Mirror image artefacts simulate flow in cases of actual vessel occlusion or mimic vessel wall ulceration in carotid plaques and stenoses. Insonation angle artefacts inhibit detection of flow or mimic flow reversal. Problems of spatial resolution lead to incorrect demonstration of the vessel lumen in stenotic findings. Aliasing, perivascular colour artefacts, and ghosting do not cause any diagnostic problems. Relevant shadowing artefacts occurred in 14.7%, and relevant mirror image artefacts in 2.5% of the pathological cases. Insonation angle artefacts occurred in 17.3% of the cases (when using standard apparatus setting). However, with an exact knowledge of the artefact phenomena, insonation angle artefacts could be eliminated and mirror image artefacts were recognized in all cases. Resolution artefacts resulted in underestimation of carotid stenoses by on average 13.3% of the degree of stenosis. CONCLUSION: In principle, four artefact phenomena give rise to diagnostic problems; however, with a good knowledge of the phenomena, only artefacts due to acoustic shadowing and limited spatial resolution are of diagnostic significance.

Arterial Occlusive Diseases↗

PubMed2006

Diagnostic value of multislice computed tomography angiography in coronary artery disease: a meta-analysis.

PURPOSE: To perform a meta-analysis of the diagnostic value of multislice CT (MSCT) angiography in the detection of coronary artery disease (CAD) when compared to conventional coronary angiography. MATERIALS AND METHODS: A search of PubMed and MEDLINE databases for English literature was performed. Only studies with at least 10 patients comparing MSCT angiography with conventional coronary angiography in the detection of CAD were included. Diagnostic value of MSCT angiography compared to coronary angiography was compared and analyzed at segment-, vessel- and patient-based assessment. RESULTS: 47 studies (67 comparisons) met the criteria and were included in our study. Pooled overall sensitivity, specificity and 95% confidence interval for MSCT angiography in the detection of CAD were 83% (79%, 89%), 93% (91%, 96%) at segment-based analysis; 90% (87%, 94%), 87% (80%, 93%) at vessel-based analysis; and 91% (88%, 95%), 86% (81%, 92%) at patient-based analysis, respectively. Diagnostic accuracy of MSCT angiography in evaluating assessable segments was significantly improved with 64-slice scanners when compared to that with 4- and 16-slice scanners (p<0.05). CONCLUSION: Our meta-analysis showed that MSCT angiography has potential diagnostic accuracy in the detection of CAD. Diagnostic performance of MSCT angiography has been significantly improved with the latest 64-slice CT, with resultant high qualitative and quantitative diagnostic accuracy. 16-slice CT was limited in spatial resolution which makes it difficult to perform quantitative assessment of coronary artery stenoses.

Clinical Trials as Topic↗

PubMedDate not supplied

Fever of unknown origin caused by adult juvenile rheumatoid arthritis: the diagnostic significance of double quotidian fevers and elevated serum ferritin levels.

Fever of unknown origin (FUO) in adults is a commonly encountered clinical problem. Treatable causes of FUO in the adult should be the primary focus of the diagnostic workup. Neoplasms have replaced infectious diseases as being the most common cause of FUO in adults, and collagen vascular diseases are now relatively rare. The most important collagen vascular diseases presenting as an FUO include Takayasu's arteritis, Kikuchi's disease, polymyalgia rheumatica, and adult juvenile rheumatoid arthritis (JRA) (adult Still's disease). There are no specific diagnostic tests for these disorders, which commonly present as prolonged fevers that are not easily diagnosed (i.e., FUO). Adult JRA is a rare but important cause of FUO in adults. Typically, patients with adult Still's disease present with liver/spleen involvement, posi-articular arthritis, ocular involvement, and evanescent salmon-colored truncal rash. An important diagnostic finding in adult JRA is the presence of a double quotidian fever, which occurs in few other disorders. Only visceral leishmaniasis and adult JRA are causes of FUO in adults associated with double quotidian fevers. Highly elevated serum ferritin levels are the most important nonspecific diagnostic finding associated with adult JRA. We present a case of FUO caused by adult JRA presenting with diffuse polyarticular migrating arthritis, evanescent rash, and splenomegaly. The diagnosis of adult JRA was suggested by these findings in association with a double quotidian fever and a highly elevated serum ferritin level. Clinicians should appreciate the diagnostic significance of fever patterns and the diagnostic significance of elevated serum ferritin levels in patients with FUO.

Adult↗

PubMedDate not supplied

Fever of unknown origin (FUO) caused by multiple myeloma: the diagnostic value of the Naprosyn test.

Fever of unknown origin (FUO) remains a difficult diagnostic problem. The causes of FUO have changed over the years. Neoplastic disorders have now displaced infectious diseases as the most common cause of FUOs. Most neoplasms are associated with no or low-grade temperatures, with some important exceptions. Hypernephromas and lymphomas are neoplasms typically associated with high spiking fevers or may present as FUOs. Hematologic malignancies, that is, the acute and chronic leukemias, myeloproliferative disorders, and multiple myeloma, do not usually present with acute fevers or as FUOs. We present an elderly male patient who presented with an FUO, whose history is significant for multiple myeloma in remission. Differential diagnostic possibilities in this patient included plasma cell leukemia, relapse of multiple myeloma, secondary/superimposed malignancy, or opportunistic infection. The main differential diagnosis for his FUO was between neoplastic and infectious disorders. As part of the diagnostic workup, a Naprosyn test (naproxen 375 mg [by mouth] every 12 hours for 3 days) was used to differentiate neoplastic from infectious causes of FUO in this patient. The Naprosyn test was positive, which indicated a neoplastic explanation for the patient's FUO and eliminated, along with the infectious disease workup, an infectious explanation for his FUO. The patient's FUO was finally determined to be the result of a relapse of multiple myeloma and not of a secondary malignancy or malignant transformation of myeloma into plasma cell leukemia. We conclude the Naprosyn test remains a valuable diagnostic test to use to narrow differential diagnostic possibilities in patients with FUOs when a malignancy is a diagnostic consideration.

Aged↗

PubMed2005

Diagnostic performance of cardiovascular magnetic resonance in patients with suspected acute myocarditis: comparison of different approaches.

OBJECTIVES: The aim of this research was to identify the diagnostic performance of gadolinium-enhanced and T2-weighted cardiovascular magnetic resonance (CMR) in suspected acute myocarditis. BACKGROUND: Acute myocarditis is difficult to diagnose; CMR provides various means to visualize myocardial inflammatory changes. A CMR approach with clear-cut diagnostic criteria would be desirable. METHODS: We investigated 25 patients with suspected acute myocarditis (18 males, 44 +/- 17 years) and 23 healthy controls (13 males, 29 +/- 10 years). Cardiovascular magnetic resonance studies included the following sequences: 1) T2-weighted triple inversion recovery; 2) T1-weighted spin echo before and over 4 min after gadolinium injection; and 3) inversion recovery-gradient echo 10 min after gadolinium injection. Qualitative and quantitative image analysis was performed for: 1) focal and global T2 signal intensity (SI); 2) myocardial global relative enhancement (gRE); and 3) areas of late gadolinium enhancement (LGE). RESULTS: Both global T2 SI and gRE were higher in patients than in controls (T2: 2.3 +/- 0.4 vs. 1.7 +/- 0.4; p < 0.0001, gRE: 6.8 +/- 4.0 vs. 3.7 +/- 2.3; p < 0.001). The sensitivity, specificity, and diagnostic accuracy for T2 (cutoff value of 1.9) were 84%, 74%, and 79%, respectively; gRE: (cutoff value of 4.0) 80%, 68%, and 74.5% respectively; LGE: 44%, 100%, and 71%, respectively. The best diagnostic performance was obtained when "any-two" of the three sequences were positive in the same patient yielding a 76% sensitivity, 95.5% specificity, and 85% diagnostic accuracy. CONCLUSIONS: A combined CMR approach using T2-weighted imaging, early and late gadolinium enhancement, provides a high diagnostic accuracy and is a useful tool in the diagnosis and assessment of patients with suspected acute myocarditis.

Acute Disease↗

PubMed2006

Comparison of two diagnostic systems for Complicated Grief.

BACKGROUND: To date, there are mainly two diagnostic systems that have been proposed for the diagnosis of Complicated Grief [Horowitz, M.J., Siegel, B., Holen, A., Bonanno, G.A., Milbrath, C., Stinson, C.H., 1997. Diagnostic criteria for complicated grief disorder. American Journal of Psychiatry 154, 904-910; Prigerson, H.G., Shear, M.K., Jacobs, S.C., Reynolds, C.F., Maciejewski, P.K., Davidson, J.R., Rosenheck, R., Pilkonis, P.A., Wortman, C.B., Williams, J.B., Widiger, T.A., Frank, E., Kupfer, D.J., Zisook, S., 1999. Consensus criteria for traumatic grief: a preliminary empirical test. British Journal of Psychiatry 174, 67-73]. There is also no data about prevalence rates of Complicated Grief in a representative sample. The purpose of this study was to compare the diagnostic systems with regard to prevalence, conditional probabilities, and agreement. METHODS: In a sample of elderly persons, features of bereavement, diagnoses of Complicated Grief and related symptoms were assessed. Agreement between the diagnostic systems was determined by kappa statistics. RESULTS: 18.9% of the sample had experienced a major bereavement, in average 15 years before measurement. The prevalence rates were 4.2% (Horowitz et al.) and 0.9% (Prigerson et al.). The agreement was poor (kappa=.13), i.e. the minority of cases received both diagnoses. The conditional probabilities of developing CG after experiencing a major bereavement were 22.2% (Horowitz et al.) and 4.6% (Prigerson et al.). LIMITATIONS: The findings are constrained to an elderly, urban population. Screening instruments, no clinical interviews, were used to assess psychopathology. CONCLUSIONS: The Horowitz et al. criteria set is more inclusive and less strict than the Prigerson et al. criteria set. The importance of functional impairment and the number of symptoms needed account for this difference. Further research should integrate diagnostic systems in order to achieve international standardization of diagnostic criteria for Complicated Grief.

Adaptation, Psychological↗

PubMed2005

A combination of tests for the diagnosis of dementia had a significant diagnostic value.

OBJECTIVE: To study the diagnostic parameters of a number of instruments for a diagnosis of dementia in general practice and the added diagnostic value of these tests. STUDY DESIGN AND SETTING: Cross-sectional diagnostic research in general practice. PARTICIPANTS: 152 persons aged 65 plus. The Mini-Mental State Examination (MMSE), the Clock Drawing Test, the ADMP scale, the Timed Up and Go Test, the Extrapyramidal Sign Scale, the Behavior Observation Scale, the Poon-Baro-Wens computer battery, and the Cognitive Drug Research Computerized Assessment System were evaluated against the Dutch version of the Cambridge Examination for Mental Disorders of the Elderly (CAMDEX-N). Diagnostic characteristics were calculated with their 95% CI. Using forward stepwise logistic regression analysis, a model was built with CAMDEX-N as the dependent variable and the tests under study as independent variables. Area under the curve was the main parameter for the comparisons. RESULTS: The main diagnostic gain results from age and ADMP, followed by the Clock Drawing Test. Subsequent addition of the MMSE and computer tests results in modest additional gain only. The final model including five tests has an area under the curve of 0.95. CONCLUSION: Sophisticated neuropsychological computerized tests have little added value in the diagnostic work-up of dementia in general practice. Basic clinical tests used in an appropriate sequence can be very valuable in establishing the diagnosis of dementia.

Age Distribution↗

PubMed2004

The clinical presentation and impact of diagnostic delays on emergency department patients with spinal epidural abscess.

Previous reports have recommended the use of a "classic triad" of fever, spine pain, and neurologic deficits to diagnose spinal epidural abscess (SEA); however, the prognosis for complete recovery is poor once these deficits are present. This retrospective case-control study investigates the impact of diagnostic delays on outcome and explores the use of risk factor screening for early identification of SEA in a population of ED patients. Inpatients with a discharge diagnosis of SEA and a related ED visit before the admission were identified over a 10-year time period. In addition, a pool of ED patients presenting with a chief complaint of spine pain was generated; controls were hand-matched 2:1 to each SEA patient based on age and gender. Data regarding demographics, presence of risk factors, physical examination findings, laboratory and radiographic results, and clinical outcome were abstracted from medical records and entered into a database for further analysis. Patients with SEA were compared to matched controls with regard to the prevalence of risk factors and the "classic triad." We also explored the impact on outcome of diagnostic delays, defined as either: 1) multiple ED visits before diagnosis, or 2) admission without a diagnosis of SEA and >24 h to a definitive study. A total of 63 SEA patients were hand-matched to 126 controls with spine pain. Diagnostic delays were present in 75% of SEA patients. Residual motor weakness was present in 45% of these patients vs. only 13% of patients without diagnostic delays (odds ratio 5.65, 95% C.I. 1.15-27.71, p < 0.05). The "classic triad" of spine pain, fever, and neurologic abnormalities was present in 13% of SEA patients and 1% of controls during the initial visit (p < 0.01); one or more risk factors were present in 98% of SEA patients and 21% of controls (p < 0.01). The erythrocyte sedimentation rate (ESR) was more sensitive and specific than total white blood cell (WBC) count as a screen for SEA. In conclusion, diagnostic delays are common in patients with SEA, often leading to irreversible neurologic deficits. The use of risk factor assessment is more sensitive than the use of the classic diagnostic triad to screen ED patients with spine pain for SEA. The ESR may be a useful screening test before magnetic resonance imaging in selected patients.

Adult↗

PubMed2005

Syncope in children: diagnostic tests have a high cost and low yield.

OBJECTIVES: To assess the use, yield, and cost-effectiveness of diagnostic tests used in the evaluation of syncope in children. STUDY DESIGN: A retrospective review of 169 pediatric patients presenting to a tertiary care center with new onset syncope was undertaken. Test results were considered diagnostic when an abnormal result correlated with the clinical diagnosis or a normal result was obtained during a syncopal episode. Costs were based on the hospital cost of testing for fiscal year 1999, using a relative value unit-based costing methodology and did not include professional fees or costs of hospitalization. RESULTS: A total of 663 tests were performed at a cost of 180,128 dollars. Only 26 tests (3.9%) were diagnostic in 24 patients (14.2%). The average cost per patient was 1055 dollars, and the cost per diagnostic result was 6928 dollars. Echocardiograms, chest radiographs, cardiac catheterizations, electrophysiology studies, and serum evaluations were not diagnostic. CONCLUSIONS: The evaluation of pediatric syncope remains expensive, and testing has a low diagnostic yield. An approach that focuses on the use of testing to verify findings from the history and physical examination or exclude life-threatening causes is justified.

Adolescent↗

PubMed2025

Diagnostic and phylogenetic perspectives of the 2023 Murray Valley encephalitis virus outbreak in Australia: an observational study.

BACKGROUND: An outbreak of Murray Valley encephalitis virus (MVEV), the largest since 1974, was observed in Australia between Jan 1 and July 31, 2023. This study aims to characterise the utility of diagnostic platforms, testing algorithms, and genomic characteristics of MVEV to facilitate a comprehensive framework for MVEV testing and surveillance in the outbreak setting. METHODS: In this observational study, we assessed flavivirus diagnostics for all patients with suspected Murray Valley encephalitis in Australia from Jan 1 to July 31, 2023. We included all patients with confirmed Murray Valley encephalitis, probable Murray Valley encephalitis, or acute unspecified flavivirus infection using the Communicable Diseases Network Australia case definition. Cases were excluded if an alternative diagnosis was identified. We collected blood, serum, cerebrospinal fluid, brain tissue, urine, or a combination of these samples, as appropriate and at the discretion of the treating clinician. We conducted multimodal diagnostic testing, which included flavivirus-specific serological and nucleic acid amplification testing. Metagenomic next-generation sequencing, including next-generation deep sequencing, target-enrichment, and targeted amplification, was conducted on human and representative mosquito-derived samples obtained from established mosquito population surveillance programmes for phylogenetic analysis. FINDINGS: 27 patients with encephalitis were assessed for MVEV between Jan 1, 2023, and July 31, 2023, 23 (85%) of whom fulfilled national case definitions for confirmed Murray Valley encephalitis. Patient ages ranged from 6 weeks to 83 years (median 62·0 years [IQR 31·0-67·5]) and patients were mostly male (21 [78%] male patients and six [22%] female patients). Incidence varied widely by geographical region and was highest in the Northern Territory (32·0 per 1 000 000 population). Diagnostic specimen collection generally occurred promptly (median 6·0 days [IQR 4·0-14·5] from symptom onset to diagnostic specimen collection). In seven patients, case assignation relied on convalescent serum samples to assess for seroconversion or an appropriate rise in antibody titre (to four times the initial value or greater), or both. MVEV-specific IgM was detectable in serum samples of 17 (81%) of 21 patients tested by day 7 and MVEV IgG or total antibody (TAb) were detected in 18 (100%) of 18 patients tested by day 30. MVEV-specific IgM (or TAb) and MVEV RNA were detected in cerebrospinal fluid collected within 14 days of symptom onset in nine (39%) of 23 patients and seven (28%) of 25 patients, respectively. Phylogenetic analysis revealed two circulating MVEV genotypes, G1A and G2, in mosquitoes and humans in 2023. In southeast Australia, only G1A was detected and probably introduced from enzootic foci in northern Australia. INTERPRETATION: This study provides a comprehensive overview of the diagnostic workflows and phylogenetic evaluations used during the 2023 MVEV outbreak in Australia, emphasising the importance of a multimodal approach for accurate and timely confirmation of flavivirus infection. Further One Health surveillance for MVEV and other zoonotic flaviviruses is key, given potential expanded ecological niches in the context of episodic climatic events. FUNDING: None.

Humans↗

PubMedDate not supplied

Diagnosis of FAS: a comparison of the Fetal Alcohol Syndrome Diagnostic Checklist and the Institute of Medicine Criteria for Fetal Alcohol Syndrome.

UNLABELLED: Fetal alcohol syndrome (FAS) is a common cause of neuropsychiatric disorders, growth impairment and craniofacial abnormalities. The syndrome may be more common than has been previously reported. Considerable controversy exists over the approaches for diagnosis of the syndrome. METHOD: In this study, we examined the rate of agreement for two diagnostic schema using 385 subjects that had been referred for assessment of possible FAS. Cases had initially been diagnosed using the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). We then reviewed the chart of each of the 385 subjects referred and assigned each subject to a category from the Institute of Medicine (IOM) Criteria or to a NOFAS category. We then compared the IOM categories with the FASDC. RESULTS: Rates of agreement with the IOM Criteria ranged from 59-71% using the FASDC. Poorest agreement was found in conjunction with partial FAS (PFAS)/alcohol-related neurodevelopmental disorder (ARND). Removal of exposure data from the scores greatly affected accuracy for the FASDC scores. DISCUSSION: The schema had only modest rates of agreement for classification of subjects with a diagnosis of FAS. This study does not determine if the diagnosis used in the development of the cohort was accurate. Further study utilizing multiple diagnostic schema in a single population will help examine the rates of diagnostic agreement between differing diagnostic schema. A valuable cohort to study would be the subjects in the CDC surveillance system. A perspective study utilizing a single cohort and applying multiple diagnostic criteria at the same time would be useful.

Diagnosis, Differential↗

PubMed2005

Childhood asthma: reasons for diagnostic delay and facilitation of early diagnosis--a qualitative study.

BACKGROUND: Children with undiagnosed asthmatic symptoms account for much illness and hospitalisation. The aim of the study was to identify reasons for diagnostic delay in childhood asthma and to develop tools for early diagnosis. METHODS: A qualitative study, using semi-structured interviews with the parents of 30 children with asthma aged 2-15 years, combined with 15 GP interviews. FINDINGS: Asthma symptoms for most of the children started during their first year. The typical symptom pattern reported by parents consisted of insidious recurrent or continuous respiratory symptoms, particularly bad at night, often lasting several weeks or months, provoked or aggravated by common colds or foggy weather. In describing the symptoms, parents focussed on coughing and sputum production. As in other studies, the children's asthmatic diagnosis was obscured by excessive diagnostic emphasis on respiratory infections. The reasons for diagnostic delay seemed to be, typically, that doctors did not pay enough attention to the history of recurrent cough and unspecified respiratory symptoms, just as the parents' use of lay and onomatopoeic terms and metaphors for wheezing seemed to be misinterpreted. Furthermore some doctors relied more on the present symptoms and physical examination, although asthmatic patients may have normal auscultation on examination. Several doctors did not expect asthma in infancy. CONCLUSIONS: The underlying reason for diagnostic delay could be that a former diagnostic definition of asthma, focussing on severe and dramatic cases, was still used by doctors. However, adapting to a new diagnostic concept for asthma, which highlights a history of periodic or chronic cough, wheeze and/or breathing difficulties and the typical asthma pattern in toddlers as shown in this study, may enable earlier diagnosis and treatment.

Journal Article↗

PubMed2006

Living without labels: the interactional management of diagnostic uncertainty in the genetic counselling clinic.

In the genetic counselling setting it is not uncommon for a client and genetic counsellor to be faced with uncertainty surrounding the exact diagnostic label to be assigned to the client's symptoms. The huge range of possible conditions/syndromes and the lack of definitive evidence available often combine to create diagnostic uncertainty or non-diagnosis (the assessment given where a genetic diagnosis of the client's symptoms cannot be confirmed at that point). This paper aims to explore the interactional management and negotiation of diagnostic uncertainty in the genetic counselling clinic in the UK. Through the application of discourse analytic tools (including reported speech, contrast and hedging) to transcripts of actual clinical interactions, the participants' use of evidence, and professional and client expertise, are examined and found to be key in the negotiation of diagnostic uncertainty. The complete data set for this research consists of transcripts of 18 clinical encounters between genetic counsellor and client. Two client cases are identified and analysed in detail in order to follow the pattern of interactional management of diagnostic uncertainty throughout the whole interaction. The findings suggest that, unlike other medical settings, clients within genetic counselling are able to actively participate in talk about diagnosis allowing, for the extent of non-diagnosis to be negotiated. This is particularly so during two moments in the interaction: the beginning of the clinic where the agenda is set, and towards the end of the clinic when a form of diagnostic assessment must be made. By providing an insight into the problematic interactional activity of giving a non-diagnosis this paper can contribute to discussions on genetic counselling practice. The analysis in this paper demonstrates how a genetic counsellor can manage the balance between accurate information-giving and empathy towards individual client needs for a diagnosis.

Communication↗