Additional Diagnostic Benefit Research Articles

Quantifying the Diagnostic Utility of Baseline Testing in Concussion Management: An Analysis of Collegiate Athletes From the NCAA-DoD CARE Consortium Dataset

Background: Although preseason baseline testing is a commonly recommended part of the concussion management process, its “value-added” contribution to the diagnosis of acute concussion compared with normative reference values remains in question. Purpose: This research aimed to evaluate the diagnostic benefits of baseline testing in acute concussion assessment compared with normative reference values and characterize the athletes who receive the most diagnostic utility from baseline testing. Study Design: Cohort study (Diagnosis); Level of evidence, 2. Methods: The investigators selected athletes from the National Collegiate Athletic Association—Department of Defense (NCAA-DoD) Concussion Assessment, Research, and Education (CARE) Consortium with at least 2 baseline assessments and 1 concussion. Two predictive models were developed that mimic acute concussion assessment using multivariate logistic regression based on a battery of postural control, neurocognitive status, and symptom assessments. The first predictive model gives a concussion status prediction based on change scores computed using individualized baseline testing information, whereas the second model uses normative reference values. The investigators defined and computed a novel metric called the Diagnostic Utility of Baseline Testing by comparing the concussion status predicted by each of these predictive models. The Diagnostic Utility of Baseline distribution was analyzed across athlete demographic characteristics and medical history. Results: The study included 1081 collegiate athletes (43.9% female) with 1279 acute concussion assessments (24- to 48-hour postinjury assessments) and 1551 reference assessments (baseline and 6-month assessments). Both the baseline and normative models exhibited notably high area under the curve values of .89 and .90, respectively. Most athletes (86.7%) did not gain additional diagnostic benefits from baseline testing versus normative values. Those with Hispanic ethnicity (P = .038) or a history of psychiatric disorders (P < .001) or depression (P = .002) were more likely to be correctly identified as having acute concussion when change scores were derived from normative values instead of individualized baseline values. Conclusion: This study highlights that the additional diagnostic benefit of preseason baseline testing over normative data is limited for most collegiate student-athletes. Thus, normative data can be used for most collegiate student-athletes in the absence of baseline testing. Moreover, these results can inform decisions on the allocation of baseline tests in resource-limited athletic settings, emphasizing the need for targeted concussion assessment strategies based on individual characteristics.

Urological Examination Compared to Ultrasonography in Testicular Lump Assessment: A Retrospective Cohort Study.

Background General practitioners (GPs) often expedite indeterminate scrotal lumpsfor urological evaluation. While a scrotal examination by a urologist is crucial, ultrasound (US) has become a routine component of clinical assessment regardless of the clinical examination findingsand the nature of the symptoms. This study aimed to evaluate the efficacy of clinical examination compared to scrotal ultrasound, even when the suspicion of cancer was low. Methodology A retrospective review of all fast-track testicular referrals seen in the clinic between January 2018 and January 2021 was conducted. Data on clinical examination findings, ultrasound results, and final diagnoses were analyzed. Patients for whom ultrasound scans were available before clinical examination were excluded from the study to avoid confounding the results. Results A total of 398 male subjects were referred for urological assessment, and 123 cases were excluded based on specified exclusion criteria. Two hundred seventy-five patients were identified who underwent clinical examination by urologists and subsequent ultrasound scans. Among 30 (11%) potentially malignant cases, 18 (60%) were confirmed malignancies. Sixty-eight (24.7%) cases were deemed unlikely to be malignant, and an ultrasound scan confirmed 40 (58.8%) cases as normal and four (5.9%) cases of unexpected malignancy. Ultrasonography confirmed 19 of 27 hydroceles (70.4%), 64 of 89 epididymal cysts (71.9%), and 5 of 9 varicoceles (55.6%). Of 51 epididymo-orchitis cases, 14 (27.5%) were confirmed. Conclusions Urological examinations demonstrated high reliability in most cases, with clinical diagnoses frequently corroborated by ultrasonographic findings. The results indicate that when there is no clinical indication for an ultrasound scan, it is more efficient to avoid unnecessary ultrasonography, as it can be time-consuming without providing additional diagnostic benefits. This underscores the value of thorough clinical assessment in guiding the need for further imaging.

Additional benefit of endoscopic ultrasound with bronchoscope-guided fine needle aspiration to endobronchial ultrasound-guided transbronchial needle aspiration in the evaluation of lung cancer: a systematic review and meta-analysis.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and endoscopic ultrasound with bronchoscope-guided fine needle aspiration (EUS-B-FNA) are minimally invasive procedures for the diagnosis and staging of lung cancer. This study aimed to investigate the additional diagnostic value of EUS-B-FNA following EBUS-TBNA. We performed a systematic literature review of PubMed, Embase, and the Cochrane Central Register databases and extracted the studies reporting the implementation of the combined EBUS-TBNA/EUS-B-FNA. A proportional meta-analysis was conducted to determine the pooled diagnostic yield of this procedure. We identified nine studies involving 2,375 patients. The overall pooled diagnostic yield of EBUS-TBNA alone and combined EBUS-TBNA/EUS-B-FNA was 0.87 [95% confidence interval (CI): 0.79-0.95, I2=96.55%] and 0.92 (95% CI: 0.85-0.99, I2=97.89%), respectively. Adding EUS-B-FNA to EBUS-TBNA increased the diagnostic yield by approximately 0.05. There was statistical heterogeneity among the studies (I2=54.49%). Among the 832 patients in seven studies, additional diagnostic benefits of EUS-B-FNA were observed in 37 lesions. The most common diagnosed lesion was in station 4L (n=10), followed by station 5 (n=8) and station 7 (n=8). In pooled estimates, the addition of EUS-B-FNA to EBUS-TBNA increased the diagnostic yield for the diagnosis and staging of lung cancer. Nodal station 4L, station 5, and station 8 were lesions frequently diagnosed by the addition of EUS-B-FNA. Because of statistical between-study heterogeneity, our findings should be interpreted with caution.

Blood-based protein biomarkers during the acute ischemic stroke treatment window: a systematic review.

Rapid and accurate acute ischemic stroke (AIS) diagnosis is needed to expedite emergent thrombolytic and mechanical thrombectomy treatment. Changes in blood-based protein biomarkers during the first 24 h of AIS, the time window for treatment, could complement imaging techniques and facilitate rapid diagnosis and treatment. We performed a systematic review according to PRISMA guidelines. MEDLINE, EMBASE, Cochrane Library, and Web of Science databases were searched for eligible studies comparing levels of blood-based protein biomarkers in AIS patients with levels in healthy controls and stroke mimics. Protein biomarkers from the following pathophysiological categories were included: neurovascular inflammation (MMP-9, TNF-alpha), endothelial integrity (VCAM-1, ICAM-1), cell migration (E-Selectin, P-Selectin, L-Selectin), markers of glial and neuronal origin (GFAP, S100, S100B, NSE), and cardiac dysfunction (BNP, NT-proBNP). The literature search was limited to English-language publications before November 7th, 2023. A total of 61 studies from 20 different countries were identified, which included in total, 4,644 AIS patients, 2,242 stroke mimics, and 2,777 controls. Studies investigating TNF-alpha, MMP-9, VCAM-1, ICAM-1, E-Selectin, L-Selectin, GFAP, NSE, and S100B showed pronounced methodological heterogeneity, making between-study comparisons difficult. However, in 80% of NT-proBNP and BNP studies, and all P-selectin studies, higher biomarker levels were observed in AIS patients compared to healthy controls and/or patients with stroke mimics. None of the biomarkers included showed sufficient evidence for additional diagnostic benefit for AIS. Comprehensive standardized global multicenter studies are needed to (1) permit comparability, (2) enable valid statements about protein-based biomarkers, and (3) reflect real-world scenarios.

Influence of diffusion weighted imaging and contrast enhanced T1 sequences on the diagnostic accuracy of magnetic resonance enterography for Crohn’s disease

ObjectivesTo evaluate the additional diagnostic benefit of diffusion weighted imaging (DWI) and contrast enhanced (CE) images during MR enterography (MRE) of Crohn’s disease. MethodsDatasets from 73 patients (mean age 32; 40 male) (28 new-diagnosis, 45 relapsed) were read independently by two radiologists selected from a pool of 13. Radiologists interpreted datasets using three sequential sequence blocks: (1) T2 weighted and steady state free precession gradient echo (SSFP) images alone (T2^); (2) T2 weighted and SSFP images with DWI (T2 + DWI^) and; (3) T2 weighted images, SSFP, DWI and post-contrast enhanced (CE) T1 images (T2 + DWI + CE^), documenting presence, location, and activity of small bowel disease. For each sequence block, sensitivity and specificity (readers combined) was calculated against an outcome-based construct reference standard. Results59/73 patients had small bowel disease. Per-patient sensitivity for disease detection was essentially identical (80 % [95 % CI 72, 86], 81 % [73,87], and 79 % [71,86] for T2^, T2 + DWI^and T2 + DWI + CE^respectively). Specificity was identical (82 % [64 to 92]). Per patient sensitivity for disease extent was 56 % (47,65), 56 % (47,65) and 52 % (43 to 61) respectively, and specificity was 82 % (64 to 92) for all blocks. Sensitivity for active disease was 97 % (90,99), 97 % (90,99) and 98 % (92,99), and specificity was also comparable between all sequence combination reads. Results were consistent across segments and newly diagnosed/relapse patients. ConclusionThere is no additional diagnostic benefit of adding either DWI or CE to T2 FSE and SSFP sequences for evaluating small bowel Crohn’s disease, suggesting MRE protocols can be simplified safely.

Is there a role for fibreoptic bronchoscopy in patients presenting with haemoptysis and negative CT? A systematic review and meta-analysis

IntroductionHaemoptysis can be a feature of lung cancer and patients are typically fast-tracked for evaluation with chest radiography, contrast-enhanced CT and fibreoptic bronchoscopy (FOB).ObjectiveWe aim to explore whether FOB should...

Diagnostic Value of Transbronchial Lung Cryobiopsy Using an Ultrathin Cryoprobe and Guide Sheath for Peripheral Pulmonary Lesions.

The addition of cryobiopsy to conventional biopsy methods improves the diagnostic yield of peripheral pulmonary lesions. Moreover, cryobiopsy with a guide sheath (GS) provides additional diagnostic benefits. Semi-real-time biopsy can be repeatedly performed using conventional biopsy devices and a GS, and subsequent cryobiopsy can be easily performed at the same location. Recently, a disposable 1.1mm-diameter ultrathin cryoprobe has been developed and can be used with a 1.95mm GS in a 2.0mm working channel. In this study, we evaluated the diagnostic performance of transbronchial lung cryobiopsy (TBLC) with the 1.1mm cryoprobe and a GS in patients with peripheral pulmonary lesions. We retrospectively reviewed the medical records of patients who underwent endobronchial ultrasound transbronchial lung biopsy with a guide sheath and TBLC from July 23, 2021 to April 30, 2022 at Chungnam National University Hospital. Of a consecutive series of 229 patients, 199 were included. The diagnostic yields of forceps biopsy and cryobiopsy were 65.3% (130/199) and 84.4% (168/199), respectively, and the total diagnostic yield was 91.5% (182/199) ( P <0.001 vs. forceps biopsy). Multivariate analysis showed that solid lesion morphology [adjusted odds ratio (OR) 3.659, P =0.002] was associated with a significantly greater diagnostic yield of cryobiopsy, whereas a lesion diameter >20mm ( P =0.026; adjusted OR 3.816) and 'within' orientation ( P =0.004; adjusted OR 6.174) were associated with a significantly greater overall diagnostic yield. TBLC using an ultrathin cryoprobe and GS markedly improves the diagnostic yield.

Role of Cardiac Magnetic Resonance in the Assessment of Patients with Premature Ventricular Contractions: A Narrative Review.

Premature ventricular contractions (PVCs) are a common finding in clinical practice, requiring a full diagnostic work-up in order to exclude an underlying cardiomyopathy. Still, in a substantial proportion of patients, these investigations do not identify any substrate, and the PVCs are labelled as idiopathic. Cardiac magnetic resonance (CMR) has proven in the last decades as the method of choice for the exploration of patients with cardiomyopathies, since it can identify subtle changes in the myocardial tissue and help with risk stratification. In patients with idiopathic PVCs and a high PVC burden, several studies report the presence of late gadolinium enhancement (LGE) at CMR, which can offer additional diagnostic and prognostic benefits, as well as assistance in catheter ablation procedures, as the risk for adverse cardiac and risk for arrhythmic events events is higher compared to patients without scar. This paper focuses on the impact of the presence of LGE in patients with idiopathic PVCs, reviewing all the relevant studies published so far, including randomized controlled clinical trials, prospective or retrospective cohort studies, case series and case reports as well as systematic reviews.

Step Serial Sectioning in Head and Neck Squamous Cell Carcinoma of Unknown Primary

Patients with suspected head and neck squamous cell carcinoma of unknown primary (HNSCCUP) may undergo tonsillectomy and tongue base mucosectomy (TBM) to help identify clinicoradiologically occult primary disease. It is hypothesized that when these diagnostic specimens are analyzed, conventional histopathological (CH) techniques risk missing small primary tumors that may be hidden in the tissue blocks. To establish the outcomes of a step serial sectioning (SSS) histopathological technique vs CH when analyzing diagnostic tissue specimens from TBM and tonsillectomy performed for HNSCCUP. The MOSES prospective multicenter noninterventional cohort study was conducted over a 25-month period from November 2019 at secondary and tertiary care ear, nose, and throat departments in the United Kingdom and included adults with clinicoradiologically occult HNSCCUP who were undergoing TBM. Conventional histopathological techniques performed on TBM and tonsillectomy specimens at participating centers, followed by SSS performed at the central laboratory. Identification of cancer on central histopathological review of TBM and tonsillectomy specimens. Tissue from 58 eligible patients was analyzed (median [range] age, 58 [47-82] years; 10 women [17%]), with 20 480 sections cut in the laboratory and 4096 sections directly examined by a pathologist (median [range], 64 [28-135] per patient). The overall identification rate for TBM following SSS according to study protocol was 50.0% (95% CI, 37.5%-62.5%) and by subgroups was 42.9% (95% CI, 21.4%-67.4%) when performed following a negative bilateral tonsillectomy, 46.7% (95% CI, 24.8%-69.9%) at the same time as bilateral tonsillectomy, and 57.1% (95% CI, 36.5%-75.5%) following historic tonsillectomy. Conventional histopathological techniques at central review identified 2 undiagnosed primary tumors and revised the diagnosis of 2 other cases (1 nonmalignant and another down staged). Step serial sectioning identified a single additional tumor: an ipsilateral synchronous tongue base tumor for which a contralateral tumor had been identified on CH. Multifocal disease was seen in 5 (8.6%); all were human papillomavirus-related and in the tongue base. In this multicenter cohort study of patients undergoing TBM for HNSCCUP, SSS was associated with added considerable histopathological workload with minimal additional diagnostic benefit. A second opinion for conventional histological techniques may be more beneficial. Synchronous primary disease should be considered when planning diagnostic oropharyngeal surgery for these patients.

Pleural fluid soluble Fas ligand and tuberculous pleural effusion: a prospective diagnostic test accuracy study.

The diagnosis of tuberculous pleural effusion (TPE) is challenging for pulmonologists. Adenosine deaminase (ADA), interferon-gamma (IFN-γ), and interleukin-27 (IL-27) have some limitations for diagnosing TPE. Soluble Fas ligand (sFasL) had a high diagnostic value for TPE. However, it remains unknown: (I) whether sFasL has an additional diagnostic value to the traditional markers (e.g., ADA); (II) whether sFasL provides a net benefit in patients with undiagnosed pleural effusion; (III) factors affecting the diagnostic accuracy of sFasL for TPE. This study aimed to evaluate the additional diagnostic value and benefit of pleural fluid sFasL for TPE. We prospectively enrolled 211 patients with undiagnosed pleural effusion. The concentration of sFasL in pleural fluid was measured by an enzyme-linked immunosorbent assay (ELISA). The diagnostic accuracy and net benefit of sFasL and ADA for TPE were analyzed by a receiver operating characteristic (ROC) curve, decision curve analysis (DCA), net reclassification improvement (NRI), and integrated discriminant improvement (IDI). The area under the ROC curves (AUCs) of sFasL and ADA were 0.74 (95% CI: 0.65-0.83) and 0.80 (95% CI: 0.71-0.90), respectively. The decision curve of sFasL revealed net benefit. The continuous NRI and IDI of sFasL were 0.36 (0.00-0.72, P=0.05) and 0.02 (-0.01-0.06, P=0.18), respectively. Pleural fluid sFasL has moderate diagnostic accuracy for TPE.

Diagnostic Utility and Safety of Non-Intubated Cryobiopsy Technique Using a Novel Ultrathin Cryoprobe in Addition to Conventional Biopsy Techniques for Peripheral Pulmonary Lesions

Background: Transbronchial cryobiopsy enables high-quality sample collection around the probe tip. Meanwhile, existing cryoprobes have less flexibility and a higher risk of bleeding. The ultrathin cryoprobe with a 1.1-mm diameter addresses these problems and allows specimens to be directly retrieved through the working channel of a thin bronchoscope. Objective: This study evaluated the diagnostic utility and safety of non-intubated cryobiopsy using an ultrathin cryoprobe added to conventional biopsy for diagnosing peripheral pulmonary lesions (PPLs). Methods: The data of patients who underwent conventional biopsy followed by non-intubated cryobiopsy to retrieve specimens through the thin bronchoscope’s working channel for diagnosing PPLs at Osaka Metropolitan University Hospital from July 2021 to June 2022 were retrospectively collected. They were analyzed to evaluate the diagnostic utility and safety of adding non-intubated cryobiopsy to conventional biopsy for PPLs. The characteristics of PPLs that obtain additional diagnostic benefits from cryobiopsy over conventional biopsy were also investigated. Results: The analysis included 113 patients. The diagnostic yields of conventional biopsy and non-intubated cryobiopsy were 70.8% and 82.3%, respectively (p = 0.009). The total diagnostic yield was 85.8%, higher than conventional biopsy alone (p < 0.001). Although one moderate bleeding occurred, no severe complications developed. The additional diagnostic benefits of non-intubated cryobiopsy over conventional biopsy were demonstrated when the radial endobronchial ultrasound (R-EBUS) showed “adjacent to” (60.3% vs. 82.8%, p = 0.017). Conclusions: Non-intubated cryobiopsy using an ultrathin cryoprobe has high diagnostic utility and safety for diagnosing PPLs, with additional diagnostic benefits over conventional biopsy depending on the R-EBUS image.

18F]FDG PET/MRI in children suffering from lymphoma: does MRI contrast media make a difference?

ObjectivesEvaluate the influence of an MRI contrast agent application on primary and follow-up staging in pediatric patients with newly diagnosed lymphoma using [18F]FDG PET/MRI to avoid adverse effects and save time and costs during examination.MethodsA total of 105 [18F]FDG PET/MRI datasets were included for data evaluation. Two different reading protocols were analyzed by two experienced readers in consensus, including for PET/MRI-1 reading protocol unenhanced T2w and/or T1w imaging, diffusion-weighted imaging (DWI), and [18F]FDG PET imaging and for PET/MRI-2 reading protocol an additional T1w post contrast imaging. Patient-based and region-based evaluation according to the revised International Pediatric Non-Hodgkin’s Lymphoma (NHL) Staging System (IPNHLSS) was performed, and a modified standard of reference was applied comprising histopathology and previous and follow-up cross-sectional imaging. Differences in staging accuracy were assessed using the Wilcoxon and McNemar tests.ResultsIn patient-based analysis, PET/MRI-1 and PET/MRI-2 both determined a correct IPNHLSS tumor stage in 90/105 (86%) exams. Region-based analysis correctly identified 119/127 (94%) lymphoma-affected regions. Sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy for PET/MRI-1 and PET/MRI-2 were 94%, 97%, 90%, 99%, 97%, respectively. There were no significant differences between PET/MRI-1 and PET/MRI-2.ConclusionsThe use of MRI contrast agents in [18F]FDG PET/MRI examinations has no beneficial effect in primary and follow-up staging of pediatric lymphoma patients. Therefore, switching to a contrast agent–free [18F]FDG PET/MRI protocol should be considered in all pediatric lymphoma patients.Clinical relevance statementThis study gives a scientific baseline switching to a contrast agent–free [18F]FDG PET/MRI staging in pediatric lymphoma patients. This could avoid side effects of contrast agents and saves time and costs by a faster staging protocol for pediatric patients.Key Points• No additional diagnostic benefit of MRI contrast agents at [18F]FDG PET/MRI examinations of pediatric lymphoma primary and follow-up staging• Highly accurate primary and follow-up staging of pediatric lymphoma patients at MRI contrast–free [18F]FDG PET/MRI

The added value of apparent diffusion coefficient and microcalcifications to the Kaiser score in the evaluation of BI-RADS 4 lesions

PurposeTo explore the added value of combining microcalcifications or apparent diffusion coefficient (ADC) with the Kaiser score (KS) for diagnosing BI-RADS 4 lesions. MethodsThis retrospective study included 194 consecutive patients with 201 histologically verified BI-RADS 4 lesions. Two radiologists assigned the KS value to each lesion. Adding microcalcifications, ADC, or both these criteria to the KS yielded KS1, KS2, and KS3, respectively. The potential of all four scores to avoid unnecessary biopsies was assessed using the sensitivity and specificity. Diagnostic performance was evaluated by the area under the curve (AUC) and compared between KS and KS1. ResultsThe sensitivity of KS, KS1, KS2, and KS3 ranged from 77.1% to 100.0%.KS1 yielded significantly higher sensitivity than other methods (P < 0.05), except for KS3 (P > 0.05), most of all, when assessing NME lesions. For mass lesions, the sensitivity of these four scores was comparable (p > 0.05). The specificity of KS, KS1, KS2, and KS3 ranged from 56.0% to 69.4%, with no statistically significant differences(P > 0.05), except between KS1 and KS2 (p < 0.05).The AUC of KS1 (0.877) was significantly higher than that of KS (0.837; P = 0.0005), particularly for assessing NME (0.847 vs 0.713; P < 0.0001). ConclusionKS can stratify BI-RADS 4 lesions to avoid unnecessary biopsies. Adding microcalcifications, but not adding ADC, as an adjunct to KS improves diagnostic performance, particularly for NME lesions. ADC provides no additional diagnostic benefit to KS. Thus, only combining microcalcifications with KS is most conducive to clinical practice.

Characterization of HBV surface antigen isoforms in the natural history and treatment of HBV infection.

The loss of HBV HBsAg or functional cure is a desirable goal of hepatitis B management. The relative abundances of HBsAg isoforms may offer additional diagnostic and predicting values. To evaluate the clinical utility of HBsAg isoforms, we developed novel prototype assays on the ARCHITECT automated serology platform that specifically detects total-HBsAg (T-HBsAg), large (L-HBsAg), and middle (M-HBsAg) products of the S gene to determine the isoform composition of human specimens from acute and chronic HBV infection and during long-term nucleos(t)ide analog therapy. In the early phase of acute HBV infection, L-HBsAg and M-HBsAg emerged within days and were in parallel to T-HBsAg during the entire course of infection. M-HBsAg levels were consistently higher than L-HBsAg levels. Patients with HBeAg(+) chronic hepatitis B had higher T-HBsAg, M-HBsAg, and L-HBsAg levels compared with HBeAg(-) patients. Correlations of M-HBsAg and L-HBsAg to T-HBsAg were similar in both. In contrast, there was no strong correlation between L-HBsAg or M-HBsAg with HBV DNA levels. During long-term nucleos(t)ide analog treatment, changes in HBsAg isoform abundance were proportional to T-HBsAg regardless of treatment responses for both HBeAg(+) and HBeAg(-) chronic hepatitis B. A larger sample size may be necessary to detect a significant difference. HBsAg isoform compositions parallel T-HBsAg levels in both acute and chronic hepatitis B infection. L-HBsAg and M-HBsAg individual biomarkers do not appear to provide an additional diagnostic benefit for staging chronic disease or monitoring response to treatment with current therapies.

The Additive Impact of Transbronchial Cryobiopsy Using a 1.1-mm Diameter Cryoprobe on Conventional Biopsy for Peripheral Lung Nodules.

The diagnostic yield of transbronchial biopsy (TBB) using radial probe endobronchial ultrasound (RP-EBUS) is 71%, which is lower than that of transthoracic needle biopsy. We investigated the performance and safety of sequential transbronchial cryobiopsy (TBC) using a novel 1.1-mm diameter cryoprobe, after conventional TBB using RP-EBUS for the diagnosis of peripheral lung lesions (PLLs). From April 2021 to November 2021, 110 patients who underwent bronchoscopy using RP-EBUS for the diagnosis of PLL ≤ 30 mm were retrospectively included in our study. All records were followed until June 2022. The overall diagnostic yield of combined TBB and TBC was 79.1%, which was higher than 60.9% of TBB alone (p=0.005). The diagnostic yield of sequential TBC was 65.5%, which increased the overall diagnostic yield by 18.2%. The surface area of tissues by TBC (mean area, 18.5 mm2) was significantly larger than those of TBB by 1.5-mm forceps (3.4 mm2, p < 0.001) and 1.9-mm forceps (3.7 mm2, p=0.011). In the multivariate analysis, PLLs with the longest diameter of ≤ 22 mm were found to be related to additional diagnostic benefits from sequential TBC (odds ratio, 3.51; 95% confidence interval, 1.043 to 11.775; p=0.042). Complications were found in 10.5% of the patients: pneumothorax (1.0%), infection (1.0%), and significant bleeding (8.6%). None of the patients developed any life-threatening complications. Sequential TBC with a 1.1-mm cryoprobe improved the performance of conventional TBB using RP-EBUS without serious complications.

Virtual non-contrast reconstructions improve differentiation between vascular enhancement and calcifications in stereotactic planning CT scans of cystic intracranial tumors

PurposeTo assess the diagnostic value of spectral-detector CT (SDCT) derived virtual non-contrast images (VNC) for differentiation between vascular enhancement and wall calcifications of cystic intracranial tumors in contrast-enhanced stereotactic planning examinations. Method48 patients with cystic intracranial tumors who underwent stereotactic SDCT examinations between 02/2017 and 02/2020 were retrospectively included. In each patient, two separate hyperattenuating structures along the cyst wall were defined as either enhancement or calcification, respectively, using reference MRI examinations. Quantitative analysis was performed ROI-based in conventional images (CI) and VNC. In the subjective analysis, two radiologists diagnosed the predefined peri-cystic structures in binary decisions as either enhancement or calcification using CI and the combination of CI and VNC, and rated diagnostic confidence, image noise and removal of iodine in VNC. Moreover, a potential diagnostic benefit of VNC was indicated. ResultsAttenuation in CI was higher as compared to VNC across all assessed ROI (all p < 0.01). In VNC, CNR between calcification and white matter was significantly higher as compared to CNR between vascular enhancement and white matter (2.6 vs 1.3, p < 0.01), while there was no significant difference in CI. In the qualitative assessment, diagnostic accuracy was significantly higher using both VNC and CI compared to using CI alone. Raters reported less image noise in VNC as compared to CI. An additional diagnostic benefit of VNC was indicated in 84.4 % of all cases. ConclusionsSDCT-derived VNC images facilitate differentiation between peri-cystic contrast enhancement in blood vessels and calcifications in stereotactic planning scans of cystic intracranial tumors.

Abnormal chromosomes identification using chromosomal microarray

In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. Extensive studies showed that CMA was gradually accepted as a prenatal invasive testing during pregnancy. The aim of this study was to evaluate the diagnostic effect of CMA for foetuses with abnormal chromosomes unrecognised by conventional karyotyping. Pregnant women who need prenatal diagnosis with all indications were enrolled in this study. For aberrant cytogenetic findings that cannot be defined by routine karyotyping, single nucleotide polymorphism array (SNP-array) was used. Six cases with abnormal karyotype were included in the study. With higher resolution of translocation breakpoints, CMA could detect smaller chromosomal imbalances that were undetectable by karyotyping. This study highlights the value of CMA for the detection of submicroscopic abnormalities in foetuses that cannot be detected by conventional karyotyping. Impact Statement What is already known on this subject? Chromosomal microarray (CMA) offers additional diagnostic benefits by revealing submicroscopic imbalances or copy number variations (CNVs) that are too small to be identified on a standard G-banded chromosome preparation. What do the results of this study add? We added a case series to highlight the CMA in identifying chromosomal abnormalities not detectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. What are the implications of these findings for clinical practice and/or further research? This study highlights the value of CMA in the case of associated foetuses with submicroscopic abnormalities that cannot detect by conventional karyotyping.

Diagnostic efficiency and incremental value of myocardial blood flow quantification by CZT SPECT for patients with coronary artery disease

Objective: To investigate the diagnostic efficiency and incremental value of quantitative myocardial blood flow measurements by Cadmium-Zine-Telluride (CZT) single photon emission computed tomography (SPECT) dynamic myocardial perfusion imaging (MPI) in patients with coronary artery disease (CAD) compared with traditional semi-quantitative measurements by MPI. Methods: This is a retrospective, cross-sectional study. We retrospectively analyzed clinical data of patients with suspected or known CAD, who underwent the dynamic MPI quantitative blood flow measurement of CZT SPECT in TEDA International Cardiovascular Hospital from October 2018 to December 2020. Clinical data, semi-quantitative parameters (stress score (SS), rest score (RS) and different score (DS)) and myocardial quantitative blood flow parameters (rest myocardial blood flow (rMBF), stress myocardial blood flow (sMBF) and myocardial flow reserve (MFR)) were analyzed. According to the results of coronary angiography, patients were divided into the stenosis group and the control group with coronary artery stenosis ≥50% or ≥75% as the diagnosis criteria. The differences of quantitative and semi-quantitative parameters between the two groups were compared, and the diagnostic efficacy was compared by receiver operating characteristic(ROC) curve. Results: A total of 98 patients with a mean age of (62.1±8.7) years were included in the study, including 66 males (67%). At the patient level, with the positive standard of coronary artery stenosis≥50%, the left ventricle (LV) stress MBF (LV-sMBF) ((1.36±0.45) ml·min-1·g-1) and LV-MFR (1.45±0.43) of the stenosis group were lower than the LV-sMBF ((2.09±0.64) ml·min-1·g-1) and LV-MFR (2.17±0.54) of control group; summed SS and summed DS were higher than control group (all P<0.05). With the positive standard of coronary artery stenosis ≥75%, the LV-sMBF ((1.19±0.34) ml·min-1·g-1) and LV-MFR (1.34±0.35) of stenosis group were lower than the LV-sMBF ((1.94±0.63) ml·min-1·g-1) and MFR (2.00±0.58) of control group; all semi-quantitative parameters were higher than control group (all P<0.05). At the vascular level, with coronary artery stenosis ≥50% as the diagnosis criteria, the sMBF ((1.26±0.49) ml·min-1·g-1) and MFR (1.35±0.46) of stenosis group were lower than the sMBF ((1.95±0.70) ml·min-1·g-1) and MFR (2.05±0.65) of control group; SS and DS were higher than control group (all P<0.05). With coronary artery stenosis≥75% as the diagnosis criteria, the sMBF ((1.12±0.41) ml·min-1·g-1) and MFR (1.25±0.38) of stenosis group were lower than the sMBF ((1.84±0.70) ml·min-1·g-1) and MFR (1.93±0.66) of control group; all semi-quantitative parameters were higher than control group (all P<0.05). With coronary artery stenosis≥50% as the diagnosis criteria and CAG as the reference standard, the AUC and 95%CI of myocardial quantitative blood flow parameters indicated by ROC curve for diagnosis of CAD were 0.830 (0.783-0.877). The sensitivity (86.1% vs. 61.5%), specificity (82.6% vs. 73.8%), positive predictive value (77.8% vs. 62.5%), negative predictive value (89.3% vs. 73.0%) and accuracy (84.0% vs. 68.7%) were all higher than the semi-quantitative parameters (all P<0.05). With coronary artery stenosis≥75% as the diagnosis criteria, the AUC and 95%CI of myocardial quantitative blood flow parameters indicated by ROC curve for diagnosis of CAD were 0.832(0.785-0.879). The sensitivity (89.2% vs. 67.6%), negative predictive value (95.5% vs. 86.2%) and accuracy (80.6% vs. 68.0%) were all higher than semi-quantitative parameters (all P<0.05). Conclusion: Compared with traditional SPECT MPI derived semi-quantitative parameters, diagnostic efficacy for CAD is higher using CZT SPECT quantitative myocardial blood flow parameters, this strategy thus has additional diagnostic benefits and incremental value on the diagnosis of CAD.

The Additional Diagnostic Benefit of Pancreatic Cancer Molecular Profiling After Germline Testing.

Germline genetic testing is universally recommended for patients with pancreatic cancer to guide therapeutic selection, but tumor molecular profiling (TMP) is not. We aimed to determine the real-world additional diagnostic benefit of TMP after germline testing for detecting therapeutically actionable alterations. Medical records and genetic test reports were reviewed for all patients who underwent germline testing and TMP at the University of California San Francisco during January 2016-January 2020. The detection rate of actionable alterations with germline testing alone was compared to that with both germline testing and TMP. Among 738 eligible patients, 144 (20%) met study criteria. Germline testing detected 10 actionable alterations in 10 patients. Tumor molecular profiling identified 3 new therapeutic targets among these 10 patients and 45 targets in 41 additional patients, increasing the number of patients with actionable findings from 10 (7%) to 51 (35%). Most actionable alterations (35/58, 60%) involved genes associated with the Homologous Recombination DNA Damage Repair pathway. Tumor molecular profiling after germline testing increased the detection of actionable alterations by 5-fold. Tumor molecular profiling is a necessary complement to germline genetic testing to fully inform therapeutic decision making for all patients with pancreatic cancer.

The additional diagnostic benefits of performing both video-polysomnography and prolonged video-EEG-monitoring: When and why

ObjectiveVideo-polysomnography (VPSG) and prolonged video-EEG-monitoring (pVEEG-M) are neurophysiological investigation modalities. Depending on indication either is performed, but occasionally patients undergo both (during the same or separate stays). We sought to assess the reasons and potential benefits of dual diagnostic assessments with both modalities. MethodsA retrospective chart-review was performed to identify patients who underwent both VPSG and pVEEG-M during the 10 year period between 2007 and 2017. One-hundred-nine patients were identified who had undergone both studies. Patients were grouped according to indication and outcome. ResultsOne-hundred-nine patients had both, a VPSG and pVEEG-M, in 62 (56.9%) the studies were performed because of separate diagnoses independent from each other. In 47 patients (43.1%) investigation with both modalities was needed to clarify the suspected diagnosis or to refute differential diagnoses. Out of these 47, 11 (10.1% of the whole group) arrived a new final diagnosis whereas in 36 (33%) the primary diagnosis was corroborated with the second modality. ConclusionsIn the majority of cases VPSG plus pVEEG-M were indicated to diagnose or monitor different comorbid diseases (e.g. sleep-related breathing disorder and epilepsy). In the other cases, performing both modalities was useful to achieve a higher diagnostic accuracy or to refute differential diagnoses. SignificanceVPSG and pVEEG-M are neurophysiological investigations which complement each other, especially in case of two different comorbid diseases in a single patient, to rule out differential diagnosis or when a higher diagnostic certainty is seeked.