A diagnostic confidence scheme for CLN3 disease

2021 ◽  
Author(s):  
Margaux C. Masten ◽  
Camille Corre ◽  
Alex R. Paciorkowski ◽  
Amy Vierhile ◽  
Heather R. Adams ◽  
...  
Keyword(s):  
Diagnostic Confidence ◽  
Cln3 Disease

Diagnostic confidence for CLN3 disease

2021 ◽  
Vol 132 (2) ◽  
pp. S70
Author(s):  
Margaux C. Masten ◽  
Amy Vierhile ◽  
Jennifer Vermilion ◽  
Heather Adams ◽  
Grace A. Zimmerman ◽  
...  
Keyword(s):  
Diagnostic Confidence ◽  
Cln3 Disease

scholarly journals Impact of digitally acquired peer diagnostic input on diagnostic confidence in outpatient cases: A pragmatic randomized trial

2020 ◽  
Author(s):  
Elaine C Khoong ◽  
Valy Fontil ◽  
Natalie A Rivadeneira ◽  
Mekhala Hoskote ◽  
Shantanu Nundy ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Randomized Trial ◽  
Odds Ratio ◽  
Primary Outcome ◽  
Mixed Effects ◽  
Regression Analyses ◽  
Diagnostic Confidence ◽  
Diagnostic Uncertainty ◽  
Intervention Impact ◽  
High Uncertainty

Abstract Objective The study sought to evaluate if peer input on outpatient cases impacted diagnostic confidence. Materials and Methods This randomized trial of a peer input intervention occurred among 28 clinicians with case-level randomization. Encounters with diagnostic uncertainty were entered onto a digital platform to collect input from ≥5 clinicians. The primary outcome was diagnostic confidence. We used mixed-effects logistic regression analyses to assess for intervention impact on diagnostic confidence. Results Among the 509 cases (255 control; 254 intervention), the intervention did not impact confidence (odds ratio [OR], 1.46; 95% confidence interval [CI], 0.999-2.12), but after adjusting for clinician and case traits, the intervention was associated with higher confidence (OR, 1.53; 95% CI, 1.01-2.32). The intervention impact was greater in cases with high uncertainty (OR, 3.23; 95% CI, 1.09- 9.52). Conclusions Peer input increased diagnostic confidence primarily in high-uncertainty cases, consistent with findings that clinicians desire input primarily in cases with continued uncertainty.

scholarly journals Patterns of use, effectiveness and safety of gadolinium contrast agents: a European prospective cross-sectional multicentre observational study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jarl Åsbjørn Jakobsen ◽  
Carlo Cosimo Quattrocchi ◽  
Frank H. H. Müller ◽  
Olivier Outteryck ◽  
Andrés Alcázar ◽  
...  
Keyword(s):  
Image Quality ◽  
Observational Study ◽  
Contrast Agents ◽  
Marketing Authorisation ◽  
Safety Data ◽  
Radiological Diagnosis ◽  
Routine Practice ◽  
Diagnostic Confidence ◽  
Cross Sectional ◽  
Wide Range

Abstract Background The EU gadolinium-based contrast agents (GBCA) market has changed in recent years due to the European Medicines Agency decision to suspend the marketing authorisation of linear GBCA and the marketing authorisation of new generic macrocyclic GBCA. The study aims to understand the patterns of (GBCA) use, and to study the effectiveness and safety of GBCA in routine practice across Europe. Methods Prospective, cross-sectional, multicentre, observational study in patients undergoing contrast-enhanced magnetic resonance. Reported usage patterns included indication, referral and examination details. Assessment of effectiveness included changes in radiological diagnosis, diagnostic confidence and image quality. Safety data were collected by spontaneous patient adverse event (AE) reporting. Results 2118 patients were included from 8 centres across 5 European countries between December 2018 and November 2019. Clariscan, Dotarem (gadoteric acid), Gadovist (gadobutrol) and ProHance (gadoteridol) were utilised in 1513 (71.4%), 356 (16.8%), 237 (11.2%) and 12 (0.6%) patients, respectively. Most were performed in CNS-related indications (46.2%). Mean GBCA doses were 0.10 mmol/kg body weight, except for Gadovist (mean 0.12 mmol/kg). GBCA use increased confidence in diagnosis in 96.2% of examinations and resulted in a change in radiological diagnosis in 73.9% of patients. Image quality was considered excellent or good in 96.1% of patients and across all GBCA. Four patients reported AEs (0.19%), with only 1 (0.05%) considered serious. Conclusions This European study confirmed that GBCAs are used appropriately in Europe for a wide range of indications. The study demonstrated a significant increase in diagnostic confidence after GBCA use and confirmed the good safety profile of GBCAs, with comparable results for all agents used.

scholarly journals A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Cynthia Tang ◽  
Jimin Han ◽  
Sonal Dalvi ◽  
Kannan Manian ◽  
Lauren Winschel ◽  
...  
Keyword(s):  
Photoreceptor Cell ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Cell Loss ◽  
Human Model ◽  
Lysosomal Storage ◽  
Rpe Cells ◽  
Cln3 Disease

AbstractMutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss, neurological impairment, and premature death. However, how CLN3 mutations cause photoreceptor cell death is not known. Here, we show that CLN3 is required for phagocytosis of photoreceptor outer segment (POS) by retinal pigment epithelium (RPE) cells, a cellular process essential for photoreceptor survival. Specifically, a proportion of CLN3 in human, mouse, and iPSC-RPE cells localized to RPE microvilli, the site of POS phagocytosis. Furthermore, patient-derived CLN3 disease iPSC-RPE cells showed decreased RPE microvilli density and reduced POS binding and ingestion. Notably, POS phagocytosis defect in CLN3 disease iPSC-RPE cells could be rescued by wild-type CLN3 gene supplementation. Altogether, these results illustrate a novel role of CLN3 in regulating POS phagocytosis and suggest a contribution of primary RPE dysfunction for photoreceptor cell loss in CLN3 disease that can be targeted by gene therapy.

scholarly journals Simulated Radiation Dose Reduction in Whole-Body CT on a 3rd Generation Dual-Source Scanner: An Intraindividual Comparison

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 118
Author(s):  
Andreas S. Brendlin ◽  
Moritz T. Winkelmann ◽  
Phuong Linh Do ◽  
Vincent Schwarze ◽  
Felix Peisen ◽  
...  
Keyword(s):  
Image Quality ◽  
Radiation Dose ◽  
Dose Reduction ◽  
Whole Body ◽  
Reference Standard ◽  
Diagnostic Confidence ◽  
Effective Radiation Dose ◽  
Intraindividual Comparison ◽  
Dual Source ◽  
Effective Radiation

To evaluate the effect of radiation dose reduction on image quality and diagnostic confidence in contrast-enhanced whole-body computed tomography (WBCT) staging. We randomly selected March 2016 for retrospective inclusion of 18 consecutive patients (14 female, 60 ± 15 years) with clinically indicated WBCT staging on the same 3rd generation dual-source CT. Using low-dose simulations, we created data sets with 100, 80, 60, 40, and 20% of the original radiation dose. Each set was reconstructed using filtered back projection (FBP) and Advanced Modeled Iterative Reconstruction (ADMIRE®, Siemens Healthineers, Forchheim, Germany) strength 1–5, resulting in 540 datasets total. ADMIRE 2 was the reference standard for intraindividual comparison. The effective radiation dose was calculated using commercially available software. For comparison of objective image quality, noise assessments of subcutaneous adipose tissue regions were performed automatically using the software. Three radiologists blinded to the study evaluated image quality and diagnostic confidence independently on an equidistant 5-point Likert scale (1 = poor to 5 = excellent). At 100%, the effective radiation dose in our population was 13.3 ± 9.1 mSv. At 20% radiation dose, it was possible to obtain comparably low noise levels when using ADMIRE 5 (p = 1.000, r = 0.29). We identified ADMIRE 3 at 40% radiation dose (5.3 ± 3.6 mSv) as the lowest achievable radiation dose with image quality and diagnostic confidence equal to our reference standard (p = 1.000, r > 0.4). The inter-rater agreement for this result was almost perfect (ICC ≥ 0.958, 95% CI 0.909–0.983). On a 3rd generation scanner, it is feasible to maintain good subjective image quality, diagnostic confidence, and image noise in single-energy WBCT staging at dose levels as low as 40% of the original dose (5.3 ± 3.6 mSv), when using ADMIRE 3.

scholarly journals Improvement of the Diagnostic Performance of Facial Neuritis Using Contrast-Enhanced 3D T1 Black-Blood Imaging: Comparison with Contrast-Enhanced 3D T1-Spoiled Gradient-Echo Imaging

2021 ◽  
Vol 10 (9) ◽  
pp. 1850
Author(s):  
Seun-Ah Lee ◽  
Sang-Won Jo ◽  
Suk-Ki Chang ◽  
Ki-Han Kwon
Keyword(s):  
Quantitative Analysis ◽  
Diagnostic Performance ◽  
Spin Echo ◽  
Fast Spin Echo ◽  
Black Blood ◽  
Gradient Echo ◽  
Diagnostic Confidence ◽  
Contrast Enhanced ◽  
Black Blood Imaging ◽  
Spoiled Gradient Echo

This study aims to investigate the diagnostic ability of the contrast-enhanced 3D T1 black-blood fast spin-echo (T1 BB-FSE) sequence compared with the contrast-enhanced 3D T1-spoiled gradient-echo (CE-GRE) sequence in patients with facial neuritis. Forty-five patients with facial neuritis who underwent temporal bone MR imaging, including T1 BB-FSE and CE-GRE imaging, were examined. Two reviewers independently assessed the T1 BB-FSE and CE-GRE images in terms of diagnostic performance, and qualitative (diagnostic confidence and visual asymmetric enhancement) and quantitative analysis (contrast-enhancing lesion extent of the canalicular segment of the affected facial nerve (LEC) and the affected side-to-normal signal intensity ratio (rSI)). The AUCs of each reviewer, and the sensitivity and accuracy of T1 BB-FSE were significantly superior to those of CE-GRE (p < 0.05). Regarding diagnostic confidence and visual asymmetric enhancement, T1 BB-FSE tended to be rated greater than CE-GRE (p < 0.05). Additionally, in quantitative analysis, LEC and rSI of the canalicular segment on T1 BB-FSE were larger than those on CE-GRE (p < 0.05). The T1 BB-FSE sequence was significantly superior to the CE-GRE sequence, with more conspicuous lesion visualization in terms of both qualitative and quantitative aspects in patients with facial neuritis.

scholarly journals Detection of Microcalcifications in Spiral Breast Computed Tomography with Photon-Counting Detector Is Feasible: A Specimen Study

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 848
Author(s):  
Matthias Wetzl ◽  
Evelyn Wenkel ◽  
Eva Balbach ◽  
Ebba Dethlefsen ◽  
Arndt Hartmann ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Sensitivity And Specificity ◽  
Breast Biopsy ◽  
Photon Counting ◽  
Diagnostic Confidence ◽  
Voxel Size ◽  
Photon Counting Detector ◽  
Smooth Kernel ◽  
Higher Sensitivity ◽  
Breast Computed Tomography

The primary objective of the study was to compare a spiral breast computed tomography system (SBCT) to digital breast tomosynthesis (DBT) for the detection of microcalcifications (MCs) in breast specimens. The secondary objective was to compare various reconstruction modes in SBCT. In total, 54 breast biopsy specimens were examined with mammography as a standard reference, with DBT, and with a dedicated SBCT containing a photon-counting detector. Three different reconstruction modes were applied for SBCT datasets (Recon1 = voxel size (0.15 mm)3, smooth kernel; Recon2 = voxel size (0.05 mm)3, smooth kernel; Recon3 = voxel size (0.05 mm)3, sharp kernel). Sensitivity and specificity of DBT and SBCT for the detection of suspicious MCs were analyzed, and the McNemar test was used for comparisons. Diagnostic confidence of the two readers (Likert Scale 1 = not confident; 5 = completely confident) was analyzed with ANOVA. Regarding detection of MCs, reader 1 had a higher sensitivity for DBT (94.3%) and Recon2 (94.9%) compared to Recon1 (88.5%; p < 0.05), while sensitivity for Recon3 was 92.4%. Respectively, reader 2 had a higher sensitivity for DBT (93.0%), Recon2 (92.4%), and Recon3 (93.0%) compared to Recon1 (86.0%; p < 0.05). Specificities ranged from 84.7–94.9% for both readers (p > 0.05). The diagnostic confidence of reader 1 was better with SBCT than with DBT (DBT 4.48 ± 0.88, Recon1 4.77 ± 0.66, Recon2 4.89 ± 0.44, and Recon3 4.75 ± 0.72; DBT vs. Recon1/2/3: p < 0.05), while reader 2 found no differences. Sensitivity and specificity for the detection of MCs in breast specimens is equal for DBT and SBCT when a small voxel size of (0.05 mm)3 is used with an equal or better diagnostic confidence for SBCT compared to DBT.

Minimizing table time in patients with claustrophobia using focused ferumoxytol-enhanced MR angiography (f-FEMRA): a feasibility study

2021 ◽  
Vol 94 (1125) ◽  
pp. 20210430
Author(s):  
Puja Shahrouki ◽  
Kim-Lien Nguyen ◽  
John M. Moriarty ◽  
Adam N. Plotnik ◽  
Takegawa Yoshida ◽  
...  
Keyword(s):  
Image Quality ◽  
Mr Angiography ◽  
Signal To Noise Ratio ◽  
Diagnostic Image Quality ◽  
Diagnostic Confidence ◽  
Motion Artefact ◽  
Scan Time ◽  
Wilcoxon Rank Sum Test ◽  
Significant Difference ◽  
Noise Ratio

Objectives: To assess the feasibility of a rapid, focused ferumoxytol-enhanced MR angiography (f-FEMRA) protocol in patients with claustrophobia. Methods: In this retrospective study, 13 patients with claustrophobia expressed reluctance to undergo conventional MR angiography, but agreed to a trial of up to 10 min in the scanner bore and underwent f-FEMRA. Thirteen matched control patients who underwent gadolinium-enhanced MR angiography (GEMRA) were identified for comparison of diagnostic image quality. For f-FEMRA, the time from localizer image acquisition to completion of the angiographic acquisition was measured. Two radiologists independently scored images on both f-FEMRA and GEMRA for arterial and venous image quality, motion artefact and diagnostic confidence using a 5-point scale, five being best. Signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) in the aorta and IVC were measured. The Wilcoxon rank-sum test, one-way ANOVA with Tukey correction and two-tailed t tests were utilized for statistical analyses. Results: All scans were diagnostic and assessed with high confidence (scores ≥ 4). Average scan time for f-FEMRA was 6.27 min (range 3.56 to 10.12 min), with no significant difference between f-FEMRA and GEMRA in diagnostic confidence (4.86 ± 0.24 vs 4.69 ± 0.25, p = 0.13), arterial image quality (4.62 ± 0.57 vs 4.65 ± 0.49, p = 0.78) and motion artefact score (4.58 ± 0.49 vs 4.58 ± 0.28, p > 0.99). f-FEMRA scored significantly better for venous image quality than GEMRA (4.62 ± 0.42 vs 4.19 ± 0.56, p = 0.04). CNR in the IVC was significantly higher for steady-state f-FEMRA than GEMRA regardless of the enhancement phase (p < 0.05). Conclusions: Comprehensive vascular MR imaging of the thorax, abdomen and pelvis can be completed in as little as 5 min within the magnet bore using f-FEMRA, facilitating acceptance by patients with claustrophobia and streamlining workflow. Advances in knowledge: A focused approach to vascular imaging with ferumoxytol can be performed in patients with claustrophobia, limiting time in the magnet bore to 10 min or less, while acquiring fully diagnostic images of the thorax, abdomen and pelvis.

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