Accuracy Of Diagnostic Criteria Research Articles

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.

To determine the incremental diagnostic yield of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify the associated genes and variants. A systematic search was performed to identify relevant studies published up until June 2022 using four databases: PubMed, SCOPUS, Web of Science and The Cochrane Library. Studies in English reporting on the diagnostic yield of ES following negative CMA in prenatally diagnosed partial or complete ACC were included. Authors of cohort studies were contacted for individual participant data and extended cohorts were provided for two of them. The increase in diagnostic yield with ES for pathogenic/likely pathogenic (P/LP) variants was assessed in all cases of ACC, isolated ACC, ACC with other cranial anomalies and ACC with extracranial anomalies. To identify all reported genetic variants, the systematic review included all ACC cases; however, for the meta-analysis, only studies with ≥ three ACC cases were included. Meta-analysis of proportions was employed using a random-effects model. Quality assessment of the included studies was performed using modified Standards for Reporting of Diagnostic Accuracy criteria. A total of 28 studies, encompassing 288 prenatally diagnosed ACC cases that underwent ES following negative CMA, met the inclusion criteria of the systematic review. We classified 116 genetic variants in 83 genes associated with prenatal ACC with a full phenotypic description. There were 15 studies, encompassing 268 cases, that reported on ≥ three ACC cases and were included in the meta-analysis. Of all the included cases, 43% had a P/LP variant on ES. The highest yield was for ACC with extracranial anomalies (55% (95% CI, 35-73%)), followed by ACC with other cranial anomalies (43% (95% CI, 30-57%)) and isolated ACC (32% (95% CI, 18-51%)). ES demonstrated an incremental diagnostic yield in cases of prenatally diagnosed ACC following negative CMA. While the greatest diagnostic yield was observed in ACC with extracranial anomalies and ACC with other central nervous system anomalies, ES should also be considered in cases of isolated ACC. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

The diagnostic accuracy of cerebral amyloid angiopathy criteria between modified Boston criteria v1.5, Boston criteria v2.0, and simplified Edinburgh criteria – the first Thai cerebral amyloid angiopathy pathological confirmed cohort.

AbstractBackgroundThe gold standard of cerebral amyloid angiopathy (CAA) diagnosis are surgical pathology or postmortem examination, which are scarcely done in clinical practice. Thus, the current diagnostic criteria are mainly based on clinic‐radiological characteristics, including modified Boston criteria v1.5 [Linn J, et al. 2010] and Boston criteria v2.0 [Charidimou A, et al. 2022], which are magnetic resonance imaging (MRI)‐based, as well as simplified [Sembill JA, et al. 2022] and full [Rodrigues MA, et al. 2018] Edinburg criteria, which are computerized topography (CT)‐based. These criteria had been developed based on patients in western countries. Therefore, the application of these criteria in Asian population, especially in South‐East Asian, is limited. This study aimed to explore the clinico‐radiological characteristics and the accuracy of the current diagnostic criteria among Thai CAA patients.MethodCongo Red staining brain histopathological specimens in King Chulalongkorn Memorial Hospital, Thailand during 2011‐2021 were reviewed. Patients’ characteristics were gathered from the best available data in electronic medical records. Each clinical event was analyzed separately. Radiological biomarkers in brain CT and MRI which had been done closet to the pathological confirmed date were systematically rated by trained investigators. Level of diagnosis was assessed based on the modified Boston criteria v1.5, Boston criteria v2.0, and simplified Edinburg criteria.ResultEight patients had pathological‐confirmed CAA and 11 clinical events from these patients were reviewed. The clinico‐radiological characteristics are shown in Table 1. Comparisons of the level of diagnosis between the criteria are shown in Table 2 and the diagnostic accuracy of the criteria using the Boston criteria v1.5 and v2.0 as reference standards are summarized in Table 3. The Boston criteria v2.0 revealed the better sensitivity compared with v1.5 (probable CAA, 63.6% vs 54.4%), likely due to an inclusion of non‐hemorrhagic biomarkers; whereas the simplified Edinburgh criteria showed lower sensitivity compared with Boston criteria. The AUC of probable CAA in Boston criteria v1.5 using v2.0 as a reference standard was 0.93 (95%CI[0.76‐1.00], sensitivity 85.7%, and specificity 100%).ConclusionWe performed the application of most recent current diagnostic criteria in CAA Thai population. The larger and well‐designed confirmatory study in Asian cohort is needed.

Evaluation of platelet indices in children with renal scarring based on diagnostic accuracy criteria and Cohen's kappa.

Renal scarring is a significant complication in recurrent urinary tract infections (UTIs) in children that can lead to hypertension and end-stage renal disease. The present study evaluates whether platelet indices may be predictive of renal scarring. Sixty-nine patients aged 1-18 years with recurrent UTIs, whose medical records were reviewed to collect data on the presence of upper/lower UTIs and the results of scintigraphic investigations with 99m-technetium dimercaptosuccinic acid, were included in the study. The platelet, platelet indices (mean platelet volume [MPV]), platelet distribution width, plateletcrit, and C-reactive protein (CRP) values of the patients during UTI episodes were reviewed retrospectively. Mean platelet volume and CRP values were higher in the renal scarring group than in the non-renal scarring group (P < 0.001 and P = 0.003, respectively). Increases in MPV and CRP values were independent risk factors for renal scarring (OR = 5.781 [1.431-23.347] and OR = 1.922 [1.77-3.141], respectively). The sensitivity, specificity, positive and negative predictive values, and diagnostic odds ratio values of MPV at a cut-off of >8.2 fL for renal scarring discrimination were 62.5%, 88.89%, 75.00%, 81.63%, and 13.33 [1.35-3.83], respectively. The sensitivity, specificity, positive and negative predictive values, and diagnostic odds ratio values of CRP at a cut-off of 1.97 mg/L for renal scarring were 58.33%, 91.11%, 77.78%, 80.39%, and 14.35 [1.36-3.97], respectively. Both MPV and CRP can be used as predictive markers for renal scarring. While MPV had higher sensitivity, CRP had a higher specificity and diagnostic odds ratio in predicting renal scarring.

Diagnosis of Alzheimer's disease before dementia: A study of UK psychiatrists

AbstractBackgroundAlzheimer’s disease (AD) is increasingly conceptualised as a continuum spanning presymptomatic, symptomatic pre‐dementia and dementia stages. With potential disease modifying treatments emerging, this study explored the views of clinicians working in Old Age Psychiatry in the UK regarding the diagnosis of symptomatic AD before dementia, including the role of biomarkers, and the preparedness of services to deliver future disease modifying treatments.MethodThis study, conducted by the Royal College of Psychiatrists and Alzheimer's Research UK, used a two‐stage quantitative and qualitative approach consisting of an online survey (n=493) followed by focus groups (n=42) of clinicians.ResultConceptualising AD as a continuum was considered a helpful framework for thinking about disease pathology, progression and treatment. However, translating this framework into clinical practice generated a number of challenges including uncertainties about diagnostic nomenclature and criteria with at least seven diagnostic terms possible. Overall, terms referencing “mild cognitive impairment” were considered more helpful than those explicitly stating AD. Hesitancy to reference AD at this stage was influenced by concerns about the accuracy of diagnostic criteria, limitations linked to biomarkers and potential negative impacts on individuals, especially in the absence of disease modifying treatments. Access to biomarkers other than CT was sub‐optimal, 96% of responders reported insufficient or no access to CSF and 93% to PET Aβ, limited access negatively impacted on the clinician’s confidence in their utility (P&lt;0.001).Psychiatrists indicated that it was important their services offer disease modifying treatments if licensed but recognised that services faced significant challenges to be prepared, including capacity, resources and staff expertise.ConclusionDiagnosing AD before the onset of dementia is likely to become increasingly relevant if new treatments are licensed, but this study highlights a number of important challenges to achieve this including concerns about the reliability and validity of the diagnostic criteria and access to key biomarkers. There was a clear view that Old Age Psychiatry services should be able to provide any future treatments alongside their usual care but recognition that this would require better access to biomarkers, clearer diagnostic criteria, up‐skilling of staff and changes to training as well as changes to care pathways.

Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis.

The diagnosis of amyotrophic lateral sclerosis (ALS) remains problematic, with current diagnostic criteria (revised El Escorial [rEEC] and Awaji) being complex and prone to error. Consequently, the diagnostic utility of the recently proposed Gold Coast criteria was determined in ALS. We retrospectively reviewed 506 patients (302 males, 204 females) to compare the diagnostic accuracy of the Gold Coast criteria to that of the Awaji and rEEC criteria (defined by the proportion of patients categorized as definite, probable, or possible ALS) in accordance with standards of reporting of diagnostic accuracy criteria. The sensitivity of Gold Coast criteria (92%, 95% confidence interval [CI] = 88.7-94.6%) was comparable to that of Awaji (90.3%, 95% CI = 86.69-93.2%) and rEEC (88.6, 95% CI = 84.8-91.7%) criteria. Additionally, the Gold Coast criteria sensitivity was maintained across different subgroups, defined by site of onset, disease duration, and functional disability. In atypical ALS phenotypes, the Gold Coast criteria exhibited greater sensitivity and specificity. The present study established the diagnostic utility of the Gold Coast criteria in ALS, with benefits evident in bulbar and limb onset disease patients, as well as atypical phenotypes. The Gold Coast criteria should be considered in clinical practice and therapeutic trials. ANN NEUROL 2021;89:979-986.

A case of perianal bowenoid papulosis: dermoscopic features and a review of previous cases

Bowenoid papulosis is an uncommon precancerous condition of the genitalia caused by oncogenic human papillomavirus types. It is seen in young, sexually active adults and histologically resembles Bowen's disease. Dermoscopy is useful in the diagnosis of both pigmented and non-pigmented skin lesions, but dermoscopic diagnostic accuracy criteria have not yet developed in diseases such as bowenoid papulosis and Bowen's disease. This case report analyzes the dermoscopic findings of bowenoid papulosis in the literature with the aim of increasing the frequency of use of dermoscopy in the diagnosis of bowenoid papulosis in clinical practice.

Right bundle branch block–type wide QRS complex tachycardia with a reversed R/S complex in lead V6: Development and validation of electrocardiographic differentiation criteria

Differentiation of supraventricular tachycardia (SVT) with a right bundle branch block (RBBB) pattern from ventricular tachycardia (VT) is difficult, particularly when the R/S ratio in lead V6 is below 1.0. We sought to investigate the electrocardiographic criteria for distinguishing between these arrhythmias. We investigated electrocardiographic parameters from 111 consecutive patients who had RBBB pattern wide QRS complex tachycardia with a reversed R/S ratio in lead V6 (72 VTs, 39 SVTs). Diagnostic criteria from the previous algorithms were compared with our new criterion, the RS/QRS ratio, which was defined as the ratio of the interval from the onset of the QRS complex to the nadir of the S wave, divided by the QRS width in lead V6. The RS/QRS ratio was further tested in a prospective population (31 fascicular VTs, 29 SVTs). The diagnostic accuracy of previous criteria (Brugada algorithm, Vereckei algorithm, and R-wave peak time criterion) was only modest. However, the RS/QRS ratio in lead V6 was significantly lower in SVT than in VT (0.36 ± 0.04 vs 0.50 ± 0.08; P < .001). A cutoff value of the RS/QRS ratio >0.41 differentiated VT from SVT with a high diagnostic accuracy (sensitivity 97.2%; specificity 89.7%). When tested in a prospective population with fascicular VT, the diagnostic accuracy of the criteria was maintained (sensitivity 90.3%; specificity 86.2%). The RS/QRS ratio >0.41 in lead V6 is a simple and reliable index for distinguishing VT from SVT in RBBB pattern wide QRS complex tachycardia with a reversed R/S complex in lead V6. This criterion was particularly useful for the differential diagnosis of fascicular VT from RBBB pattern SVT.

Emergency Ultrasound Literature and Adherence to Standards for Reporting of Diagnostic Accuracy Criteria.

Given the wide usage of emergency point-of-care ultrasound (EUS) among emergency physicians (EPs), rigorous study surrounding its accuracy is essential. The Standards for Reporting of Diagnostic Accuracy (STARD) criteria were established to ensure robust reporting methodology for diagnostic studies. Adherence to the STARD criteria among EUS diagnostic studies has yet to be reported. Our objective was to evaluate a body of EUS literature shortly after STARD publication for its baseline adherence to the STARD criteria. EUS studies in 5 emergency medicine journals from 2005-2010 were evaluated for their adherence to the STARD criteria. Manuscripts were selected for inclusion if they reported original research and described the use of 1 of 10 diagnostic ultrasound modalities designated as "core emergency ultrasound applications" in the 2008 American College of Emergency Physicians Ultrasound Guidelines. Literature search identified 307 studies; of these, 45 met inclusion criteria for review. The median STARD score was 15 (interquartile range [IQR] 12-17), representing 60% of the 25 total STARD criteria. The median STARD score among articles that reported diagnostic accuracy was significantly higher than those that did not report accuracy (17 [IQR 15-19] vs. 11 [IQR 9-13], respectively; p<0.0001). Seventy-one percent of articles met ≥50% of the STARD criteria (56-84%) and 4% met >80% of the STARD criteria. Significant opportunities exist to improve methodological reporting of EUS research. Increased adherence to the STARD criteria among diagnostic EUS studies will improve reporting and improve our ability to compare outcomes.

Defining the Minimum Acceptable Diagnostic Accuracy of Noninvasive Fibrosis Testing in Cirrhosis: A Decision Analytic Modeling Study.

No studies explore the clinical consequences of using noninvasive tests (NITs) compared to liver biopsy (LB) in diagnosing cirrhosis. Our aim was to combine two decision analytic models to determine the minimum diagnostic accuracy criteria for NITs to diagnose cirrhosis with equivalence to LB in terms of mortality. We further evaluated selected existing NITs used alone and sequentially. A decision tree was constructed with associated 2-year mortality incorporating an LB or NIT strategy to diagnose cirrhosis in a hypothetical cohort of 1,000 asymptomatic patients. Cirrhosis prevalence was modeled at 5%, 20%, and 50%. Decision curve analyses were performed, expressing the net benefit of tests over a range of threshold probabilities (Pt ). The NIT deriving from the two models that could diagnose cirrhosis with at least equal mortality to LB was termed "mNIT." Existing NITs were then compared using both decision models. The combined mNIT minimum sensitivity and specificity to diagnose cirrhosis with equivalence to LB at 5%, 20% and 50% cirrhosis prevalence were; 89% and 88%, 94% and 85%, and 94% and 87%, respectively at Pt =0.20. Sequential NITs performed better than single NITs at any prevalence. Combining both decision models, FibroTest plus vibration-controlled transient elastography (VCTE) and VCTE alone were the only existing NITs that were better than or equal to LB at diagnosing cirrhosis at 5% prevalence. At 20% and 50% prevalence, only FibroTest high specificity cutoff plus VCTE was equivalent to or better than LB. Conclusion: Decision analytic models were used to determine the minimum acceptable diagnostic accuracy of NITs for diagnosing cirrhosis; we recommend that such models should be used as the standard in evaluating the diagnostic performance of NITs.

Hemophagocytic syndrome in patients living with HIV: a retrospective study.

Various infectious diseases can hyper-stimulate the immune system, causing hemophagocytic syndrome (HPS). Little is known regarding the accuracy of diagnostic criteria and epidemiological triggering factors in the acquired immunodeficiency syndrome (AIDS) setting. We investigated the major infectious disease triggers of HPS in patients living with human immunodeficiency virus (HIV)/AIDS and determined the accuracy of bone marrow aspiration (BMA). The inclusion criteria were (i) confirmed HIV diagnosis, (ii) bone marrow aspiration, and (iii) a minimum of four HPS criteria. Patients were further classified into those with four presumed HPS criteria, or ≥ 5 confirmed criteria. The disease triggers, accuracy of bone marrow aspiration, and prognosis markers were examined. Presumed HPS was observed in 15/36 patients (41%), and confirmed HPS in 58% (n= 21). The major etiological triggers were infection with Mycobacterium (34%), Cytomegalovirus (14%), Cryptococcus neoformans (11%), and hematological or tumoral disease (11%). BMA demonstrated 93% specificity on screening diagnosis (odds ratio [OR] 12.7, 95% confidence interval [CI] 1.4-115.1, P= 0.01). Ferritin > 5000ng/mL correlated with probability of death in univariate analysis (OR 6.00, 95% CI 1.33-27.05, P =0.02). Ferritin performance as test of death probability presented area under the curve as 0.74 (95% CI 0.56-0.91, P= 0.016). However, neither cluster of differentiation for lymphocyte count nor HIV viral load correlated with patient deaths. Mycobacterium spp. and Cytomegalovirus were the main factors triggering HPS, followed by Cryptococcus neoformans, and hematological and tumoral diseases. High ferritin levels were associated with increased death probability. High specificity was noted with BMA.

208 Evaluation of Emergency Ultrasound Literature for Adherence to Standards for Reporting of Diagnostic Accuracy Criteria

Emergency point-of-care ultrasound (EUS) is widely used as a diagnostic tool in emergency departments (EDs) to guide clinical decisionmaking. Given its wide usage among emergency physicians as a diagnostic tool, rigorous study surrounding its accuracy as a diagnostic tool is essential. The Standards for Reporting of Diagnostic Accuracy (STARD) criteria were established in 2003 as a guide for investigators to ensure robust methodology for diagnostic studies. Adherence to the STARD criteria among EUS diagnostic studies has yet to be reported. Our objective was to evaluate an initial body of EUS literature for its adherence to the STARD criteria. Emergency point-of-care ultrasound studies published in 5 major emergency medicine journals from 2005-2010 were evaluated to establish for their initial adherence to the STARD criteria. Our initial literature search identified 307 studies pertaining to EUS. Of these, 45 met our inclusion criteria for review, meaning that they were studies evaluating core diagnostic EUS applications as outlined by the 2008 American College of Emergency Physicians. (ACEP 2008) Of the 45 articles in our review, only 29 (64%, 95% CI: 49% - 78%) evaluated the diagnostic accuracy of EUS with calculation and reporting of sensitivity and specificity. The remaining articles evaluated EUS as a diagnostic tool but did not report diagnostic accuracy information. The median STARD score across all articles was 15 (IQR: 12 - 17), which represents 60% of the total STARD criteria. The median STARD score among articles that reported diagnostic accuracy was significantly higher than those that reported EUS as a diagnostic tool but did not report accuracy [17 (IQR: 15 - 19) versus 11 (IQR: 9 - 13), respectively; p < 0.0001]. Seventy-one percent of articles met at least 50% of the STARD criteria (56%-84%) and 4% met greater than 80% of the STARD criteria. There is significant room to improve the adherence to the STARD criteria among EUS studies.

Diagnostic Accuracy of the Veteran Affairs' Traumatic Brain Injury Screen

ObjectiveTo comprehensively estimate the diagnostic accuracy and reliability of the Department of Veterans Affairs (VA) Traumatic Brain Injury (TBI) Clinical Reminder Screen (TCRS). DesignCross-sectional, prospective, observational study using the Standards for Reporting of Diagnostic Accuracy criteria. SettingThree VA Polytrauma Network Sites. ParticipantsOperation Iraqi Freedom, Operation Enduring Freedom veterans (N=433). Main Outcome MeasuresTCRS, Comprehensive TBI Evaluation, Structured TBI Diagnostic Interview, Symptom Attribution and Classification Algorithm, and Clinician-Administered Posttraumatic Stress Disorder (PTSD) Scale. ResultsForty-five percent of veterans screened positive on the TCRS for TBI. For detecting occurrence of historical TBI, the TCRS had a sensitivity of .56 to .74, a specificity of .63 to .93, a positive predictive value (PPV) of 25% to 45%, a negative predictive value (NPV) of 91% to 94%, and a diagnostic odds ratio (DOR) of 4 to 13. For accuracy of attributing active symptoms to the TBI, the TCRS had a sensitivity of .64 to .87, a specificity of .59 to .89, a PPV of 26% to 32%, an NPV of 92% to 95%, and a DOR of 6 to 9. The sensitivity was higher for veterans with PTSD (.80–.86) relative to veterans without PTSD (.57–.82). The specificity, however, was higher among veterans without PTSD (.75–.81) relative to veterans with PTSD (.36–.49). All indices of diagnostic accuracy changed when participants with questionably valid (QV) test profiles were eliminated from analyses. ConclusionsThe utility of the TCRS to screen for mild TBI (mTBI) depends on the stringency of the diagnostic reference standard to which it is being compared, the presence/absence of PTSD, and QV test profiles. Further development, validation, and use of reproducible diagnostic algorithms for symptom attribution after possible mTBI would improve diagnostic accuracy.

Hungarian Philadelphia negative chronic myeloproliferative neoplasia registry. Evaluation of the Polycythemia vera patients

Data of 351 JAK2V617F and exon 12 mutation positive polycythemia vera patients were collected online from 15 haematology centres reporting epidemiologic, clinical characteristics, diagnostic tools, therapeutic interventions, thromboembolic complications, disease transformations. Vascular events prior to and after diagnosis were evaluated upon the Landolfi risk assessment scale. 116 thromboembolic events were reported in 106 PV patients prior to diagnosis and 152 occasions in 102 patients during follow-up. The frequency of major arterial events were significantly reduced (p<0.0001) and the minor venous events were significantly elevated (p<0.0001) after the diagnosis. Major hemorrhagic complications were found in 25 and transformation in 26 cases. Our registry allows to collect and evaluate the features of patients with polycythemia vera. The Landolfi risk stratification was proven to be useful. Based on evaluated data, accuracy of diagnostic criteria and compliance to risk-adapted therapeutic guidelines are needed. Orv Hetil. 2017; 158(23): 901-909.

Criteria of Diagnostic Accuracy of US for Tumor Less Than 1 cm

Criteria of Diagnostic Accuracy of US for Tumor Less Than 1 cm

94 Clinical Differentiation between Physiological Remodelling and Arrhythmogenic Right Ventricular Cardiomyopathy in Athletes with Marked Electrocardiographic Repolarisation Anomalies

Introduction Physiological cardiac adaptation to regular exercise, including biventricular dilatation and electrocardiographic T-wave inversion (TWI), may create diagnostic overlap with arrhythmogenic right ventricular cardiomyopathy (ARVC). Accurate differentiation between physiological and pathological cardiac remodelling is essential in order to avoid erroneous exclusion from sporting activity or, conversely, sports-related sudden cardiac deaths. The study objectives were to assess the accuracy of diagnostic criteria for ARVC when applied to athletes exhibiting electrocardiographic TWI, and to identify discriminators between physiology and disease. Methods The study population consisted of athletes with TWI (n = 45), a control group of athletes without TWI (n = 35), and age-matched ARVC patients (n = 35). Subjects underwent ECG, signal-averaged ECG (SAECG), echocardiography, cardiac magnetic resonance imaging (CMRI), Holter monitoring, and exercise testing. Genetic testing was performed on consenting ARVC patients. Results There were no electrical, structural, or functional cardiac differences between athletes exhibiting TWI and the control group of athletes without TWI. When athletes were compared with ARVC patients, markers of physiological remodelling included early repolarisation, biphasic TWI, voltage criteria for right ventricular (RV) or left ventricular hypertrophy, and symmetrical cardiac enlargement. Indicators of RV pathology included syncope or adverse family history; Q-waves or precordial QRS amplitudes Conclusions Certain components of the ARVC Task Force criteria are non-specific when applied to athletes, since training-induced electrical and structural remodelling may closely resemble pathology. Additional discriminators are required to avoid erroneous diagnosis in such cases. Comprehensive evaluation using widely available techniques can effectively differentiate phenotypically borderline cases.

Sensitivity and Specificity of a New Vertical Flow Rapid Diagnostic Test for the Serodiagnosis of Human Leptospirosis

Background: Leptospirosis is a growing public health concern in many tropical and subtropical countries. However, its diagnosis is difficult because of non-specific symptoms and concurrent other endemic febrile diseases. In many regions, the laboratory diagnosis is not available due to a lack of preparedness and simple diagnostic assay or difficult access to reference laboratories. Yet, an early antibiotic treatment is decisive to the outcome. The need for Rapid Diagnostic Tests (RDTs) for bedside diagnosis of leptospirosis has been recognized. We developed a vertical flow immunochromatography strip RDT detecting anti-Leptospira human IgM and evaluated it in patients from New Caledonia, France, and French West Indies. Methodology/Principal Findings: Whole killed Leptospira fainei cells were used as antigen for the test line and purified human IgM as the control line. The mobile phase was made of gold particles conjugated with goat anti-human IgM. Standards for Reporting of Diagnostic Accuracy criteria were used to assess the performance of this RDT. The Microscopic Agglutination Test (MAT) was used as the gold standard with a cut-off titer of ≥400. The sensitivity was 89.8% and the specificity 93.7%. Positive and negative Likelihood Ratios of 14.18 and 0.108 respectively, and a Diagnostic Odds Ratio of 130.737 confirmed its usefulness. This RDT had satisfactory reproducibility, repeatability, thermal tolerance and shelf-life. The comparison with MAT evidenced the earliness of the RDT to detect seroconversion. When compared with other RDT, the Vertical Flow RDT developed displayed good diagnostic performances.Conclusions/SignificanceThis RDT might be used as a point of care diagnostic tool in limited resources countries. An evaluation in field conditions and in other epidemiological contexts should be considered to assess its validity over a wider range of serogroups or when facing different endemic pathogens. It might prove useful in endemic contexts or outbreak situations.

A systematic review of the screening accuracy of the HIV Dementia Scale and International HIV Dementia Scale.

BackgroundThe HIV Dementia Scale (HDS) and International HIV Dementia Scale (IHDS) are brief tools that have been developed to screen for and aid diagnosis of HIV-associated dementia (HAD). They are increasingly being used in clinical practice for minor neurocognitive disorder (MND) as well as HAD, despite uncertainty about their accuracy.Methods and FindingsA systematic review of the accuracy of the HDS and IHDS was conducted. Studies were assessed on Standards for Reporting Diagnostic Accuracy criteria. Pooled sensitivity, specificity, likelihood ratios (LR) and diagnostic odds ratios (DOR) were calculated for each scale as a test for HAD or MND. We retrieved 15 studies of the HDS, 10 of the IHDS, and 1 of both scales. Thirteen studies of the HDS were conducted in North America, and 7 of the IHDS studies were conducted in sub-Saharan Africa. Estimates of accuracy were highly heterogeneous between studies for the HDS but less so for the IHDS. Pooled DOR for the HDS was 7.52 (95% confidence interval 3.75–15.11), sensitivity and specificity for HAD were estimated at 68.1% and 77.9%, and sensitivity and specificity for MND were estimated at 42.0% and 91.2%. Pooled DOR for the IHDS was 3.49 (2.12–5.73), sensitivity and specificity for HAD were 74.3% and 54.7%, and sensitivity and specificity for MND were 64.3% and 66.0%.ConclusionBoth scales were low in accuracy. The literature is limited by the lack of a gold standard, and variation in estimates of accuracy is likely to be due to differences in reference standard. There is a lack of studies comparing both scales, and they have been studied in different populations, but the IHDS may be less specific than the HDS. These rapid tests are not recommended for diagnostic use, and further research is required to inform their use in asymptomatic screening.

A systematic review of tests to predict cerebral palsy in young children

This systematic review evaluates the accuracy of predictive assessments and investigations used to assist in the diagnosis of cerebral palsy (CP) in preschool-age children (<5 y). Six databases were searched for studies that included a diagnosis of CP validated after 2 years of age. The validity of the studies meeting the criteria was evaluated using the Standards for Reporting Diagnostic Accuracy criteria. Where possible, results were pooled and a meta-analysis was undertaken. Nineteen out of 351 studies met the full inclusion criteria, including studies of general movements assessment (GMA), cranial ultrasound, brain magnetic resonance imaging (MRI), and neurological examination. All studies assessed high-risk populations including preterm (gestational range 23-41 wks) and low-birthweight infants (range 500-4350 g). Summary estimates of sensitivity and specificity of GMA were 98% (95% confidence interval [CI] 74-100%) and 91% (95% CI 83-93%) respectively; of cranial ultrasound 74% (95% CI 63-83%) and 92% (95% CI 81-96%) respectively; and of neurological examination 88% (95% CI 55-97%) and 87% (95% CI 57-97%) respectively. MRI performed at term corrected age (in preterm infants) appeared to be a strong predictor of CP, with sensitivity ranging in individual studies from 86 to 100% and specificity ranging from 89 to 97% There was inadequate evidence for the use of other predictive tools. This review found that the assessment with the best evidence and strength for predictive accuracy is the GMA. MRI has a good predictive value when performed at term-corrected age. Cranial ultrasound is as specific as MRI and has the advantage of being readily available at the bedside. Studies to date have focused on high-risk infants. The accuracy of these tests in low-risk infants remains unclear and requires further research.

Basal Follicle-Stimulating Hormone and Peak Gonadotropin Levels after Gonadotropin-Releasing Hormone Infusion Show High Diagnostic Accuracy in Boys with Suspicion of Hypogonadotropic Hypogonadism

Differential diagnosis between hypogonadotropic hypogonadism (HH) and constitutional delay of puberty in boys is challenging. Most tests use an acute GnRH stimulus, allowing only the release of previously synthesized gonadotropins. A constant GnRH infusion, inducing de novo gonadotropin synthesis, may allow a better discrimination. We evaluated the diagnostic accuracy of basal and peak gonadotropins after GnRH infusion, measured by ultrasensitive assays, to confirm the diagnosis in boys with suspected HH. We conducted a validation study following Standards for Reporting of Diagnostic Accuracy criteria at a tertiary public hospital. A GnRH i.v. infusion test was performed in 32 boys. LH and FSH were determined by immunofluorometric assay at 0-120 min. DIAGNOSIS ASCERTAINMENT: The following diagnoses were ascertained: complete HH (n = 19; testes < 4 ml at 18 yr), partial HH (n = 6; testes enlargement remained arrested for > or = 1 yr or did not reach 15 ml), and constitutional delay of puberty (n = 7; testes > or = 15 ml at 18 yr). Sensitivity, specificity, positive and negative predictive values, and diagnostic efficiency were assessed. Basal FSH less than 1.2 IU/liter confirmed HH with specificity of 1.00 (95% confidence interval = 0.59-1.00), rendering GnRH infusion unnecessary. In patients with basal FSH of at least 1.2 IU/liter, the coexistence of peak FSH less than 4.6 IU/liter and peak LH less than 5.8 IU/liter after GnRH infusion had high specificity (1.00; 95% confidence interval = 0.59-1.00) and diagnostic efficiency (76.9%) for HH. Basal FSH less than 1.2 IU/liter confirms HH, which precludes from further testing, reducing patient discomfort and healthcare system costs. In patients with basal FSH of at least 1.2 IU/liter, a GnRH infusion test has a high diagnostic efficiency.

Accuracy of clinical diagnostic criteria for Friedreich's ataxia.

The accuracy of the diagnostic criteria for Friedreich's ataxia proposed by Harding and by the Quebec Cooperative Study on Friedreich's Ataxia was studied in 142 patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Eighty-eight patients received the molecular diagnosis of Friedreich's ataxia. Traditional diagnostic criteria are characterized by high specificity, but they yield a high number of false-negative diagnoses. We suggest three levels of diagnostic certainty: (1) possible Friedreich's ataxia, defined as sporadic or recessive progressive ataxia with (a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or (b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% positive predictive value); (2) probable Friedreich's ataxia as defined by Harding's criteria (63% sensitivity and 96% positive predictive value) or by Quebec Cooperative Study on Friedreich's Ataxia criteria (63% sensitivity and 98% positive predictive value); (3) definite diagnosis, molecularly confirmed.