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Diagnostic pitfalls in paediatric ischaemic stroke.

Diagnosing ischaemic stroke and determining its cause is difficult in children. Both are important for selection of treatment and prediction of outcome. This study explored the diagnostic changes that lead to a delay in the correct diagnosis of paediatric stroke. Case histories of 45 children with ischaemic stroke (31 males, 14 females; median age 6y; age range 2mo-16y) were retrospectively reviewed. The initial clinical diagnosis, based on the interpretation of presenting symptoms, was compared with the final aetiological stroke diagnosis after completion and review of diagnostic work-up. The type of diagnostic change, consequent time delay until correct diagnosis, reasons for change of diagnosis, and alterations to management were evaluated. Twenty-four diagnostic changes were identified; 19 in 'primary stroke diagnosis' (symptoms initially not attributed to stroke), and five in 'aetiological diagnosis' (incorrect initial determination of type or cause of stroke). The median interval between initial and final diagnosis was 7 days (3h-2y). The change in diagnosis led to therapeutic alterations in 17 patients. Risk factors for childhood stroke differ from those in adults. Stroke is frequently not recognized as the cause of the child's symptoms, and the correct determination of stroke aetiology takes time. We recommend that children with stroke be evaluated in a centre with expertize, using standardized diagnostic protocols and careful follow-up.

Adolescent↗

Diagnostic imaging in small hospitals.

Diagnostic imaging in small hospitals is discussed. Four key questions are answered: (1) Are diagnostic imaging technologies necessary at this level? (2) Which technologies should be chosen and why? (3) How can they be most rationally and cost effectively used? (4) How can their total impact on health care be assessed? The paper concludes that small hospitals should have diagnostic imaging facilities and that the modalities of choice are diagnostic radiology and ultrasonography. A detailed description is given of the WHO Basic Radiological System and General Purpose Ultrasonographic equipment together with WHO recommendations for the rational use of diagnostic imaging.

Diagnostic Imaging↗

[Acute chest pain--it's not always the heart! What additional laboratory and diagnostic imaging is needed].

Few diagnostic decisions in medicine have been more heavily researched and debated than the approach to patients with acute chest pain. In addition, the question is which patients with acute chest pain have a presentation benign enough to make discharge from the emergency department safe and appropriate despite the advances in diagnostic tests. There is always the possibility of missed diagnosis which may cause substantial morbidity and mortality. The use of algorithms or protocols is not always sufficient to avoid missed diagnosis and the individual physicians's diagnostic performance and clinical experience is as important as the best algorithm for atypical chest pain! Patients with atypical symptoms are most likely to be mistakenly discharged. This article does mainly focus on diagnostic tests including ECG and biomarkers such as troponin and D-dimer as well as the investigation by helical CT scan in patients with suspected pulmonary embolism. The article also discuss the importance of repeated assessments of biomarkers and the determination of the exact time interval between the first clinical symptoms and the presentation to the emergency department. This time interval can be very crucial for the diagnostic work-up of patients with acute chest pain.

Acute Disease↗

Diagnostic consistency in assessing conduct disorder: an experiment on the effect of social context.

The major objective of the diagnostic criteria in the Diagnostic and Statistical Manual of Mental Disorders (see, e.g., the 4th ed., American Psychiatric Association, 1994) has been to achieve better diagnostic consistency. This has proved to be an elusive goal, because the diagnostic criteria and their rules for application can be ambiguous. This study mailed systematically varied case vignettes of conduct disorder to a nationally representative sample of 1,500 mental health clinicians in order to examine the effect of social context on diagnostic consistency. It found that consistency of diagnosis was modest and that it was affected by context and varied by profession.

Adult↗

Diagnostic efficiency of DSM-IV criteria for borderline personality disorder: an evaluation in Hispanic men and women with substance use disorders.

This study examined diagnostic efficiency of Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV), criteria for borderline personality disorder (BPD). One hundred thirty monolingual Hispanic adults (90 men, 40 women) at an outpatient psychiatric and substance abuse clinic were assessed with the Spanish-Language Version of the Diagnostic Interview for DSM-IV Personality Disorders (C. M. Grilo, L. M. Anez, & T. H. McGlashan, 2003). The BPD diagnosis was determined by the best-estimate method. Diagnostic efficiency indices were calculated for all BPD criteria, for the entire study group, and separately by gender. Overall, the best exclusion criterion was affective instability, whereas suicidality or self-injury was the best inclusion criterion and the best predictor overall. These findings did not differ by gender, are similar to those reported elsewhere in the literature, and have implications for the refinement of diagnostic systems.

Adult↗

Diagnostic performance of tear function tests in Sjogren's syndrome patients.

OBJECTIVE: To evaluate the diagnostic performance of the tests included in primary Sjogren's syndrome (SS-I) diagnostic criteria (Schirmer I, break-up time, vital dye staining) and to compare them with other examinations related to the ocular surface status. METHODS: Clinical and cytological data were collected from 177 patients (62 SS-1, 56 non-SS autoimmune diseases, 59 Sicca syndrome). Tear tests included: a validated questionnaire on symptoms, Schirmer I, Jones test, Ferning test, BUT, corneal aesthesiometry, tear clearance test, lissamine green staining, impression conjunctival cytology. Data were statistically evaluated and sensitivity, specificity, likelihood ratio (LR+), receiver-operating characteristics (ROC) curves were calculated for each test. RESULTS: Data showed a poor diagnostic performance of Schirmer test I (sensitivity 0.42; specificity 0.76; LR+1.75) and BUT (sensitivity 0.92; specificity 0.17; LR+1.11) (area under the curve in ROC analysis <0.58). Validated subjective symptoms questionnaire (sensitivity 0.89; specificity 0.72; LR+3.18), Jones test (sensitivity 0.60; specificity 0.88; LR+5), corneal aesthesiometry (sensitivity 0.80; specificity 0.67; LR+2.42), and tear clearance test (sensitivity 0.63; specificity 0.84; LR+3.93), all exhibited a high diagnostic performance (area under the curve in the ROC analysis always >0.70). Lissamine green staining exhibited the best performance (sensitivity 0.63; specificity 0.89; LR+5.72) but the result could be distorted by an incorporation bias. CONCLUSIONS: Our data suggest to implement the items for ocular signs and symptoms contained in many SS-I diagnostic criteria with the use of a validated questionnaire, performance of Jones test, corneal aesthesiometry measurement, and tear clearance rate evaluation.

Autoimmune Diseases↗

The value of lymph node imprint cytodiagnosis: an assessment of interobserver agreement and diagnostic accuracy.

The aim of this study was to assess the reliability of cytodiagnosis of lymph node imprints without fixed tissue sections. One hundred randomly selected archival cases were used in the study. These air-dried May-Grünwald-Giemsa imprint slides were assessed independently and blind by three pathologists. Cases were assigned to one of four diagnostic categories: reactive changes, non-Hodgkin's lymphoma (NHL), Hodgkin's disease (HD) and secondary malignancy. Each broad diagnosis was compared with the 'correct' reviewed histological diagnosis to calculate interobserver agreement and diagnostic accuracy. The overall kappa score (+0.59) was indicative of moderate agreement. The mean pathologist diagnostic accuracy was 78%, with complete agreement with the histological diagnosis in 61% of cases. The main diagnostic difficulties were in the distinction between reactive changes and NHL and distinguishing NHL from HD. Further diagnostic classification, e.g. typing of lymphomas and subclassification of Hodgkin's disease, was not found to be reliable using the imprints alone. With these limitations in mind, pathologists should be able to use lymph node imprints for cytodiagnosis in selected cases. The study also emphasized the utility of imprints as a corollary to the histology and as a tool for cytology training and continuing education.

Adolescent↗

Diagnosis and classification of eating disorders in adults with intellectual disability: the Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation (DC-LD) approach.

BACKGROUND: Previous classifications of eating disorders [EDs] employed a narrower concept of EDs. They did not include the wide range of abnormal eating behaviours [AEBs], persistent feeding disorders and EDs psychopathology, aetiological and comorbidity factors seen in adults with intellectual disability [ID]. METHODS: The International Classification of Diseases--10 [ICD-10], ICD-10-MR, Diagnostic and Statistical Manual--IV [DSM-IV] and Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation[DC-LD] diagnostic approaches to EDs in adults with ID are compared. RESULTS: The DC-LD encourages conceptually clearer and systematic hierarchical differential diagnostic classification of AEBs and EDs. The DC-LD also allows consideration of relevant aetiological and comorbidity issues. DC-LD-based multi-axial case formulation supports the multimodal clinical assessment of AEBs and EDs. CONCLUSIONS: Further research should develop similar systematic and evidence-based multicomponent clinical diagnostic, management and service models for adults with ID and EDs.

Diagnosis, Differential↗

Evidence-based medicine for diagnostic questions.

When searching the medical care literature for evidence on a diagnostic test, three questions should be addressed each time a study is found: (1) Is this evidence about a diagnostic test valid? (2) Does the test accurately discriminate between patients who do and patients who do not have a specific disorder? (3) Can the test be applied to this patient who is right now sitting in front of me? We will discuss hysterosalpingography (HSG) as an example of a valid and accurate diagnostic test to be applied in a general population of subfertile couples to assess tubal patency (specificity 0.83). HSG is an unreliable test for diagnosing tubal occlusion however (sensitivity 0.65). If HSG were normal, other investigations could be pursued and diagnostic laparoscopy (LS) only performed if conception had not occurred by a later date. If HSG were abnormal, LS would be needed to confirm or exclude tubal occlusion. Patients with risk factors for pelvic or tubal disease, including an abnormal Chlamydia antibody test (CAT) and those showing abnormalities at pelvic examination, should proceed directly to LS because they are significantly more likely to have pelvic pathology. A completely different issue would be HSG as a prognostic test for the occurrence of pregnancy. In theory, the occurrence of pregnancy may be considered a gold standard; however, in reproductive medicine, with so many causes of subfertility other than tubal pathology, a diagnostic test for one single disorder, if normal, will never be able to accurately predict the eventual occurrence of pregnancy.

Adult↗

[Diagnostic value of imaging procedures in nephroblastoma before preoperative chemotherapy: initial results].

According to the international SIOP 9 study preoperative chemotherapy for patients between 6 months and 16 years old is a major component of the therapeutic management of Wilms' tumour. Prior to treatment, the diagnosis is established by diagnostic imaging alone, without biopsy. This study was therefore undertaken to verify the accuracy of diagnostic imaging in the German GPO study group. Between July 1988 and November 1990, 156 patients with known histology were registered in the study centre. Of these patients, 67% (105/156) received preoperative chemotherapy. The diagnosis was initially established by US, TVP and CT, and in some cases MRT without prior biopsy. Of these preoperatively treated patients, 92.4% (97/105) had Wilms' tumour or one of its variants. Five patients had a different malignant tumour. Three cases, i.e. 2.8% of the preoperatively treated patients or 1.9% of all registered patients with known histology, had benign tumours of the kidney. Morphologically, the Wilms' tumour was revealed by a characteristic inhomogeneity in sonography and the CT scan. The inhomogeneity in the CT scan increased following injection of contrast medium. Intratumoral bleeding and cystic areas were observed frequently in the native scan. Calcifications were seen in 5% of the cases. The predictive value of pretherapeutic diagnostic imaging was good enough to justify instituting chemotherapy without diagnostic biopsy. It is still difficult in diagnostic imaging to differentiate the very rare benign cystic nephroma from malignant nephroblastoma. Intravenous pyelography proved to be the best method for distinguishing extrarenal from renal tumours.

Child↗

Diagnostic value of bronchoalveolar lavage in community-acquired pneumonia in a routine setting: a study on patients treated in a Finnish university hospital.

Only a few previous studies have focused on the use or bronchoalveolar lavage (BAL) in patients with community-acquired pneumonia (CAP). Our aim was to evaluate the diagnostic value of BAL in CAP in a routine clinical setting. 71 disease episodes were retrospectively analysed. The patients had undergone BAL for serious or slowly responding pneumonia. All procedures were performed during antimicrobial treatment of the patient. BAL fluid was cultivated for bacteria, fungi, and viruses. In 68 episodes, 1 or several specific polymerase chain reaction tests were performed. Only 1 (1.3%) quantitative bacterial culture was considered diagnostic for CAP, and indicated a change of antimicrobial treatment. The diagnostic yield increased to 9.8% when other methods were used. A respiratory virus was the only aetiology in 3 (6.0%) patients. In slowly responding pneumonia, also hospital-acquired pathogens and malignancies were identified, resulting in a total diagnostic yield of 20.0%. Thus, even when a large array of diagnostic assays was applied, the value of BAL in pretreated patients with CAP was very small, and its therapeutic implications minimal. In a subgroup of slowly responding pneumonia, the procedure was of some usefulness even after commencement of antimicrobial treatment.

Adult↗

Diagnostic work in general practice: more than naming a disease.

OBJECTIVE: To explore the medically unexplained disorders by examining endpoints of irresolute diagnostic strategies. DESIGN: Qualitative observational study based on audio-taped general practice consultations, editing analysis style inspired by Giorgi's phenomenological approach. SETTING: Primary health care. SUBJECTS: Purposeful sampling of 17 consultations containing diagnostic conclusions, but no clear-cut diagnosis drawn from a total of 86 consultations with women patients in general practice. MAIN OUTCOME MEASURES: Descriptions of diagnostic conclusions in consultations when clear-cut diagnoses are not obtained. RESULTS: We identified three types of diagnostic conclusions. The first conveys assurances that nothing dangerous is suspected. The doctors find that the symptoms somehow look like a diagnosis, and further investigation can be initiated. In the second group, the symptoms lead the doctors to test management, and take the outcome as material for further assessment. The third type of conclusion implies a decision to track cues of potential danger, quick settlements, although the seriousness of the situation is not necessarily communicated to the patient. CONCLUSION: Exploration of diagnostic work in general practice can provide access to understand what goes on when patients are given the label of "unexplained" disorders.

Adolescent↗

Discovery of novel diagnostic biomarkers of hepatocellular carcinoma associated with immune infiltration.

OBJECTIVE: Diagnosis of hepatocellular carcinoma (HCC) remains challenging for clinicians. Machine learning approaches and big data analyses are viable strategies for identifying HCC diagnostic markers. MATERIALS AND METHODS: In this study, we downloaded mRNA expression profiles of HCC from the GEO database and used random forest and machine learning algorithms, such as least absolute shrinkage and selection operator, to screen for reliable diagnostic genes. Disease Ontology, Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Set Enrichment Analysis enrichment analyses were performed to explore differential gene functions and disease pathways. CIBERSORT was performed to calculate the immune cell infiltration of HCC and the correlation between diagnostic genes and immune cells. Cell experiments were performed to evaluate the function of R-spondin 3 (RSPO3) in HCC cells. Immunohistochemical staining was used to evaluate the protein expression of CD138, CD206 and iNOS. RESULTS: The results indicated that extracellular matrix protein 1 (ECM1), Niemann-Pick C1-Like 1 (NPC1L1) and RSPO3 were down-regulated in HCC compared with the normal group (p&#x2009;<&#x2009;0.05), which was validated in clinical tissue samples. Moreover, ECM1, NPC1L1 and RSPO3 had high diagnostic values (AUC > 0.75) for HCC in both training and test groups. Immuno-infiltration analysis revealed that ECM1 and RSPO3 were highly positively correlated with neutrophil and macrophage M2 levels, whereas they were negatively correlated with Tregs. RSPO3-si affected cell proliferation and apoptosis in HCC. Furthermore, RSPO3 exhibited a positive correlation with tumour progression, the proportion of plasma cells and M2 macrophages in mice, while showing a negative association with M1 macrophages. CONCLUSION: The present study identified ECM1, NPC1L1 and RSPO3 as new diagnostic biomarkers for HCC based on normal and diseased samples from HCC, meanwhile the pro-oncogenic function of RSPO3 and its regulation on immune infiltration have been confirmed.

Carcinoma, Hepatocellular↗

Diagnostic procedures in mild traumatic brain injury: results of the WHO Collaborating Centre Task Force on Mild Traumatic Brain Injury.

We examined diagnostic procedures in mild traumatic brain injury by a systematic literature search. After screening 38,806 abstracts, we critically reviewed 228 diagnostic studies and accepted 73 (32%). The estimated prevalence of intracranial CT scan abnormalities is 5% in patients presenting to hospital with a Glasgow Coma Scale score of 15 and 30% or higher in patients presenting with a score of 13. About 1% of all treated patients with mild traumatic brain injury require neurosurgical intervention. There is strong evidence that clinical factors can predict computerized tomography scan abnormalities and the need for intervention in adults, but no such evidence for mild traumatic brain injury in children. We found evidence that skull fracture is a risk factor for intracranial lesions, but the diagnostic accuracy of radiologically diagnosed skull fracture as an indication of intracranial lesions is poor. There is only a little evidence for the diagnostic validity of cognitive testing and other diagnostic tools for mild traumatic brain injury.

Adolescent↗

The diagnostic accuracy of Kernig's sign, Brudzinski's sign, and nuchal rigidity in adults with suspected meningitis.

To determine the diagnostic accuracy of Kernig's sign, Brudzinski's sign, and nuchal rigidity for meningitis, 297 adults with suspected meningitis were prospectively evaluated for the presence of these meningeal signs before lumbar puncture was done. Kernig's sign (sensitivity, 5%; likelihood ratio for a positive test result [LR(+)], 0.97), Brudzinski's sign (sensitivity, 5%; LR(+), 0.97), and nuchal rigidity (sensitivity, 30%; LR(+), 0.94) did not accurately discriminate between patients with meningitis (>/=6 white blood cells [WBCs]/mL of cerebrospinal fluid [CSF]) and patients without meningitis. The diagnostic accuracy of these signs was not significantly better in the subsets of patients with moderate meningeal inflammation (>/=100 WBCs/mL of CSF) or microbiological evidence of CSF infection. Only for 4 patients with severe meningeal inflammation (>/=1000 WBCs/mL of CSF) did nuchal rigidity show diagnostic value (sensitivity, 100%; negative predictive value, 100%). In the broad spectrum of adults with suspected meningitis, 3 classic meningeal signs did not have diagnostic value; better bedside diagnostic signs are needed.

Adolescent↗

An autopsy-based quality assessment program for improvement of diagnostic accuracy.

A program for quality assessment of medical diagnostics is proposed, based on detailed, ongoing comparison of clinical diagnoses with autopsy diagnoses. The model requires that the autopsy service itself be subjected to quality control to assure the reliability of the autopsy findings, including the quality of diagnoses made postmortem, and the quality of autopsy reports. Discrepancies between premortem and postmortem diagnoses are classified as to cause and magnitude; for each disease, the total diagnostic experience is collected, and sensitivity and specificity of clinical diagnostics are computed. These are compared with control ranges of sensitivity and specificity, prospectively arrived at through analysis of thousands of cases. Statistically acceptable sampling for autopsy, and review of findings by an independent body are also discussed. The findings generated by this program would be of great value in programs for quality improvement of medical care. The model has the following advantages: (1) it recognises that there is an unavoidable baseline of diagnostic errors; (2) the control levels, based on current medical practice, are prospectively established; (3) it avoids placing blame in a single case; and (4) it provides a fairly high power scrutiny that can focus on diagnostics for single diseases rather than the entire spectrum of medical practice.

Autopsy↗

Examining diagnostic tests: an evidence-based perspective.

Diagnosis is an important aspect of physical therapist practice. Selecting tests that will provide the most accurate information and evaluating the results appropriately are important clinical skills. Most of the discussion in physical therapy to date has centered on defining diagnosis, with considerably less attention paid to elucidating the diagnostic process. Determining the best diagnostic tests for use in clinical situations requires an ability to appraise evidence in the literature that describes the accuracy and interpretation of the results of testing. Important issues for judging studies of diagnostic tests are not widely disseminated or adhered to in the literature. Lack of awareness of these issues may lead to misinterpretation of the results. The application of evidence to clinical practice also requires an understanding of evidence and its use in decision making. The purpose of this article is to present an evidence-based perspective on the diagnostic process in physical therapy. Issues relevant to the appraisal of evidence regarding diagnostic tests and integration of the evidence into patient management are presented.

Decision Making↗

Likelihood ratios: getting diagnostic testing into perspective.

In modern medicine, sophisticated laboratory tests and imaging studies are often emphasized at the expense of history and physical examination, rather than complementing clinical assessment. Ancillary testing often fails to advance the diagnostic process, and increases patient risk and the expense of medical care. The relative value of clinical evaluation and technological methods is rarely considered, and the power of the clinical evaluation is therefore underestimated. The likelihood ratio (LR) is a semiquantitative measure of the performance of diagnostic tests which indicates how much a diagnostic procedure modifies the probability of disease, and is calculated from the sensitivity and specificity of the test (or directly from the change in probability associated with the test result). We review the performance of frequently-used tests by their LRs, and compare them to the power of clinical assessment, with clinical cases to illustrate the application of LRs in the diagnostic process. The discriminative power of clinical assessment and ancillary tests is often similar, and the combination of the two greatly increases accuracy in the diagnostic process. Clinical assessment is indeed frequently more informative than current technical modalities. LRs assist in putting the value of testing in proper perspective. Practice in evaluating pre-test probabilities of disease and in the application of LRs should be enhanced in medical training.

Diagnostic Techniques and Procedures↗