Background: MYCN-amplified RB1 wild-type retinoblastoma (MYCNARB1+/+) represents a rare yet clinically significant subtype, characterized by an aggressive course and relative resistance to conventional therapeutic strategies. As biopsy isn't indicated in retinoblastoma cases, distinguishing MRI features could be beneficial in identifying children with this particular genetic type. This study intends to describe the MRI appearance of MYCNARB1+/+ retinoblastoma, and to evaluate the capacity of qualitative MRI features to accurately identify this particular genetic subtype. This multicenter, retrospective study of a case-control design utilized MRI scans from children diagnosed with MYCNARB1+/+ retinoblastoma and age-matched children with RB1-/- retinoblastoma (case-control ratio 14). These included images from June 2001 to February 2021, with additional scans from May 2018 to October 2021. Patients with histopathologically confirmed unilateral retinoblastoma, who underwent genetic testing for RB1/MYCN status and MRI scans, were included in the study group. Using the Fisher exact or Fisher-Freeman-Halton test, the relationship between radiologist-evaluated imaging characteristics and diagnosis was investigated. Bonferroni correction was applied to p-values. In a study encompassing ten retinoblastoma referral centers, a total of one hundred ten patients were recruited. This group included eighty-eight control children diagnosed with RB1-/- retinoblastoma and twenty-two children presenting with MYCNARB1+/+ retinoblastoma. For children in the MYCNARB1+/+ category, the median age was 70 months (IQR 50-90 months), including 13 boys. Conversely, the median age of the RB1-/- group's children was 90 months (IQR 46-134 months), encompassing 46 boys. NSC 23766 concentration A peripheral location was a characteristic feature of MYCNARB1+/+ retinoblastomas in 10 out of 17 children; the strong association displayed a specificity of 97% (P < 0.001). Among the 22 children examined, 16 demonstrated irregular margins, achieving a specificity of 70% and a p-value of .008, indicating statistical significance. Extensive retinal folding, encapsulated by the vitreous, demonstrated remarkable specificity (94%) and a strong statistical correlation (P<.001). Among the 21 children with MYCNARB1+/+ retinoblastoma, 17 cases demonstrated peritumoral hemorrhage, achieving a specificity of 88% (P < 0.001). Of the twenty-two children examined, eight demonstrated subretinal hemorrhage with a distinct fluid-fluid level. This finding exhibited 95% specificity and statistical significance (P=0.005). Strong anterior chamber augmentation was observed in 13 out of 21 children, yielding a specificity of 80% (P = .008). Early identification of MYCNARB1+/+ retinoblastomas is plausible due to the specific MRI characteristics these tumors display. This method holds promise for refining patient selection in the future, leading to more personalized treatments. The supplemental materials for this RSNA 2023 article are now online. For further insight, review the editorial penned by Rollins in this publication.
The presence of germline BMPR2 gene mutations is a frequent characteristic observed in patients with pulmonary arterial hypertension (PAH). Despite this, the connection between these patients' imaging findings and the presence of this condition, to the best of the authors' knowledge, has not been established. We sought to characterize distinct pulmonary vascular abnormalities on CT and pulmonary angiograms, comparing patients with and without a BMPR2 mutation. In this retrospective analysis of chest CT scans, pulmonary angiograms, and genetic testing, data were collected from patients diagnosed with either idiopathic pulmonary arterial hypertension (IPAH) or heritable pulmonary arterial hypertension (HPAH) between January 2010 and December 2021. Utilizing a four-point severity scale, four independent readers analyzed CT images to grade perivascular halo, neovascularity, centrilobular and panlobular ground-glass opacities (GGO). Using the Kendall rank-order coefficient and Kruskal-Wallis test, an analysis of clinical characteristics and imaging features was conducted to compare patients with and without BMPR2 mutations. Among the participants in this study were 82 patients having BMPR2 mutations (mean age, 38 years ± 15 standard deviations; 34 males; including 72 with IPAH and 10 with HPAH) and 193 patients without the mutation, all of whom were diagnosed with IPAH (mean age, 41 years ± 15 standard deviations; 53 males). Neovascularity was observed in 115 (42%) of the 275 patients, along with perivascular halo in 56 (20%) patients at CT, and frost crystals were detected in 14 (26%) of the 53 patients who underwent pulmonary artery angiography. The prevalence of perivascular halo and neovascularity differed significantly between patients with and without the BMPR2 gene mutation. Patients carrying the mutation displayed these characteristics more frequently (38%, 31 of 82) than those without the mutation (13%, 25 of 193), a statistically significant difference (P < 0.001). Drug incubation infectivity test Among 82 cases, 49 (60%) showed neovascularity, in contrast to 193 cases where 66 (34%) demonstrated neovascularity, revealing a statistically significant difference (P<.001). A list of sentences is the format expected when using this JSON schema. Compared to individuals without the BMPR2 mutation, those with the mutation displayed a significantly higher rate of frost crystals (53% [10 of 19] versus 12% [4 of 34], P < 0.01). Severe neovascularity was often observed alongside severe perivascular halos in BMPR2 mutation-affected individuals. Ultimately, patients with pulmonary arterial hypertension carrying a BMPR2 mutation demonstrated distinguishable features on computed tomography, notably perivascular halo patterns and neovascularity. protozoan infections The presented findings indicated a connection between the genetic, pulmonary, and systemic characteristics that are integral to the pathogenesis of PAH. Supplementary materials for this RSNA 2023 article are accessible.
The World Health Organization's fifth edition of central nervous system (CNS) tumor classifications, released in 2021, instigates considerable alterations in the categorisation of brain and spine tumours. These modifications were required due to the accelerating knowledge base of CNS tumor biology and therapies, a substantial portion of which relies on molecular methods in tumor diagnostics. The emergent intricacies in the genetic makeup of CNS tumors demand a revised categorization of tumor groups and acknowledgment of newly defined tumor entities. Radiologists interpreting neuroimaging studies should possess an advanced understanding of these updates to ensure top-notch patient care. This review will concentrate on novel or updated Central Nervous System (CNS) tumor types and subtypes, exclusive of infiltrating gliomas (detailed in Part 1), with a specific focus on imaging characteristics.
ChatGPT, a powerful large language model of artificial intelligence, is expected to be a beneficial tool in medical practice and education, though its efficacy and performance remain questionable for radiology. This investigation assesses ChatGPT's performance when responding to radiology board exam questions without accompanying images, aiming to pinpoint both its strengths and limitations. From February 25th to March 3rd, 2023, a prospective, exploratory study utilized 150 multiple-choice questions. These questions were patterned after the Canadian Royal College and American Board of Radiology exams in terms of format, content, and degree of difficulty. The questions were then categorized based on the type of cognitive skill required (lower-order – recall, understanding – and higher-order – apply, analyze, synthesize) and subject matter (physics and clinical). By type, higher-order thinking questions were further categorized (description of imaging findings, clinical management, application of concepts, calculation and classification, and disease associations). Different facets of ChatGPT's performance were evaluated, including variations in question types and topics. Language confidence in responses was the subject of an evaluation. Univariate analysis procedures were executed. The 150 questions yielded a 69% correct answer rate for ChatGPT, with 104 correct answers. Questions demanding lower-order thinking saw an 84% success rate for the model (51 out of 61 questions), significantly outperforming questions necessitating higher-order reasoning (60% accuracy, 53 correct out of 89 questions). This difference was statistically significant (P = .002). The model's accuracy on questions related to the description of imaging findings was demonstrably lower than on lower-order questions (61%, 28 of 46 instances; P = .04). Classification and calculation of the data, (25%, 2/8) exhibited statistical significance (P = .01). The application of these concepts comprised 30% of the sample, demonstrating statistical significance (three out of ten; P = .01). ChatGPT's performance on higher-order clinical management questions (16 correct responses out of 18 questions, or 89% accuracy) was statistically identical to its performance on lower-order questions (P = .88). The results indicated a statistically significant (P = .02) difference in performance, with clinical questions showing a significantly higher success rate (73%, 98 of 135) than physics questions (40%, 6 of 15). ChatGPT exhibited consistent and confident language, a characteristic even in the face of factual inaccuracies (100%, 46 of 46). In the final analysis, ChatGPT, lacking radiology-focused pre-training, demonstrated almost-passing performance on a radiology board exam (without images). Its success was particularly strong in basic comprehension and clinical strategies, but it exhibited significant weaknesses in tasks requiring the elucidation of imaging details, quantitative assessments, and the wider application of radiology principles. The RSNA 2023 publication includes an editorial piece by Lourenco et al., as well as a research article by Bhayana et al., both of which are integral to the issue's content.
Body composition studies have, up to this point, primarily focused on adult patients suffering from illness or those of a considerably advanced age. The anticipated consequence in otherwise healthy adults who are symptom-free is unclear.