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Purpose: In BRCA germline pathogenic sequence variants (PSV) carriers aged 30-39 years imaging is recommended at six-month intervals. The European society for medical oncology recommendation of the use of 6-monthly MRI six-monthly MRI screening is being considered at our institution, particularly for younger carriers under the age of 35, although it is not mandatory. If 6-monthly MRI is unavailable, annual MRI may be supplemented by ultrasound (with or without mammography). The aim of this study was to evaluate the utility of ultrasound screening added to mammography, as a 6-month supplement to annual MRI in BRCA PSV carriers aged 30-39 years., Materials and Methods: This IRB approved retrospective study included BRCA PSV carriers aged 30-39 years, who underwent breast cancer screening at our institution between January 2015 and March 2023. Participants were divided into two groups, those who had supplemental whole-breast US and mammography at six months and underwent screening before March 2019, and those who had only mammography without supplemental US and enrolled in screening after March 2019. Patient characteristics, cancer detection rates and cancer characteristics were compared between the two groups., Results: Overall, 200 asymptomatic BRCA1/2 PSV carriers undergoing screening in our institution were included in the study. Mean age was 35.7 ± 3.5 years, and mean follow-up time was 37.4 ± 38.0 months. There were 118 (59 %) women screened with supplemental US, and 82 (41 %) women without. Eight cancers were diagnosed during the study period, four in women with supplemental US and four in women without. The sensitivity of whole-breast screening US was 25 % (1/4), specificity 85.7 % (222/259), PPV 2.6 % (1/38), and NPV 98.7 % (222/225). Of the four cancers detected in women screened with supplemental US, one was diagnosed by whole-breast US, two by MRI, and one by mammography. Of eight cancers included in this study, two were not detectable by targeted second-look US. All eight cancers were detectable by MRI., Conclusion: The addition of whole-breast ultrasound to mammography and MRI screening in BRCA PSV carriers aged 30-39 years offered limited incremental benefit. MRI with 6 months supplemental mammography without US detected all cancer cases., Competing Interests: Declaration of competing interest All authors declare none., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Aberrant skipping of coding exons in CD19 and CD22 compromises the response to immunotherapy in B-cell malignancies. Here, we showed that the MS4A1 gene encoding human CD20 also produces several messenger RNA (mRNA) isoforms with distinct 5' untranslated regions. Four variants (V1-4) were detected using RNA sequencing (RNA-seq) at distinct stages of normal B-cell differentiation and B-lymphoid malignancies, with V1 and V3 being the most abundant. During B-cell activation and Epstein-Barr virus infection, redirection of splicing from V1 to V3 coincided with increased CD20 positivity. Similarly, in diffuse large B-cell lymphoma, only V3, but not V1, correlated with CD20 protein levels, suggesting that V1 might be translation-deficient. Indeed, the longer V1 isoform contained upstream open reading frames and a stem-loop structure, which cooperatively inhibited polysome recruitment. By modulating CD20 isoforms with splice-switching morpholino oligomers, we enhanced CD20 expression and anti-CD20 antibody rituximab-mediated cytotoxicity in a panel of B-cell lines. Furthermore, reconstitution of CD20-knockout cells with V3 mRNA led to the recovery of CD20 positivity, whereas V1-reconstituted cells had undetectable levels of CD20 protein. Surprisingly, in vitro CD20-directed chimeric antigen receptor T cells were able to kill both V3- and V1-expressing cells, but the bispecific T-cell engager mosunetuzumab was only effective against V3-expressing cells. To determine whether CD20 splicing is involved in immunotherapy resistance, we performed RNA-seq on 4 postmosunetuzumab follicular lymphoma relapses and discovered that in 2 of them, the downregulation of CD20 was accompanied by a V3-to-V1 shift. Thus, splicing-mediated mechanisms of epitope loss extend to CD20-directed immunotherapies., (© 2023 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)

Purpose: The quality of radiology referrals influences patient management and imaging interpretation by radiologists. The aim of this study was to evaluate ChatGPT-4 as a decision support tool for selecting imaging examinations and generating radiology referrals in the emergency department (ED)., Methods: Five consecutive clinical notes from the ED were retrospectively extracted, for each of the following pathologies: pulmonary embolism, obstructing kidney stones, acute appendicitis, diverticulitis, small bowel obstruction, acute cholecystitis, acute hip fracture, and testicular torsion. A total of 40 cases were included. These notes were entered into ChatGPT-4, requesting recommendations on the most appropriate imaging examinations and protocols. The chatbot was also asked to generate radiology referrals. Two independent radiologists graded the referral on a scale ranging from 1 to 5 for clarity, clinical relevance, and differential diagnosis. The chatbot's imaging recommendations were compared with the ACR Appropriateness Criteria (AC) and with the examinations performed in the ED. Agreement between readers was assessed using linear weighted Cohen's κ coefficient., Results: ChatGPT-4's imaging recommendations aligned with the ACR AC and ED examinations in all cases. Protocol discrepancies between ChatGPT and the ACR AC were observed in two cases (5%). ChatGPT-4-generated referrals received mean scores of 4.6 and 4.8 for clarity, 4.5 and 4.4 for clinical relevance, and 4.9 from both reviewers for differential diagnosis. Agreement between readers was moderate for clinical relevance and clarity and substantial for differential diagnosis grading., Conclusions: ChatGPT-4 has shown potential in aiding imaging study selection for select clinical cases. As a complementary tool, large language models may improve radiology referral quality. Radiologists should stay informed about this technology and be mindful of potential challenges and risks., (Copyright © 2023 American College of Radiology. Published by Elsevier Inc. All rights reserved.)

Objectives: The aim of our study was to evaluate the yield of head CT in the ED in different age groups and different referral indications., Patients and Methods: Records of one large academic tertiary care ED were retrospectively reviewed for consecutive adult patients who underwent a head CT between January 1st 2017 and February 10th 2017. CT referral forms and interpretations were obtained and evaluated for demographics, referral indications, and findings. Scans were divided into three groups: acute findings, chronic findings, and normal. The cohort was divided into three age groups. Associations between referral indications and acute findings were calculated., Results: Overall, 1536 of adult patients with ED head CT were included. Acute findings were found in 239/1536 (15.5%) of the CTs. The frequency of acute findings increased with age (p = 0.027). The most common acute findings were brain hemorrhage (32.6%), infarct (27.6%), and mass (23%). The top three referral indications were focal neurologic deficit (28%), trauma (24.7%), and headache (17.5%). The rates of positive acute findings for different referral indications were seizure 27%, confusion 20%, syncope 19%, focal neurologic deficit 16%, head injury 15%, headache 12%, and dizziness 8%., Conclusion: This study shows the yield of ED head CT for acute findings for different age groups and for different referral indications. The frequency of acute findings increased with age. Suspected seizure had the highest association with an acute finding, whereas dizziness had the lowest association., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Purpose: RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is typically performed on clinically accessible tissues (CATs) from blood and skin. RNA tissue specificity makes it difficult to identify aberrations in relevant but nonaccessible tissues (non-CATs). We determined how RNA-seq from CATs represent splicing in and across genes and non-CATs., Methods: We quantified RNA splicing in 801 RNA-seq samples from 56 different adult and fetal tissues from Genotype-Tissue Expression Project (GTEx) and ArrayExpress. We identified genes and splicing events in each non-CAT and determined when RNA-seq in each CAT would inadequately represent them. We developed an online resource, MAJIQ-CAT, for exploring our analysis for specific genes and tissues., Results: In non-CATs, 40.2% of genes have splicing that is inadequately represented by at least one CAT; 6.3% of genes have splicing inadequately represented by all CATs. A majority (52.1%) of inadequately represented genes are lowly expressed in CATs (transcripts per million (TPM) < 1), but 5.8% are inadequately represented despite being well expressed (TPM > 10)., Conclusion: Many splicing events in non-CATs are inadequately evaluated using RNA-seq from CATs. MAJIQ-CAT allows users to explore which accessible tissues, if any, best represent splicing in genes and tissues of interest.

Purpose: Natural language processing (NLP) enables conversion of free text into structured data. Recent innovations in deep learning technology provide improved NLP performance. We aimed to survey deep learning NLP fundamentals and review radiology-related research., Methods: This systematic review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We searched for deep learning NLP radiology studies published up to September 2019. MEDLINE, Scopus, and Google Scholar were used as search databases., Results: Ten relevant studies published between 2018 and 2019 were identified. Deep learning models applied for NLP in radiology are convolutional neural networks, recurrent neural networks, long short-term memory networks, and attention networks. Deep learning NLP applications in radiology include flagging of diagnoses such as pulmonary embolisms and fractures, labeling follow-up recommendations, and automatic selection of imaging protocols. Deep learning NLP models perform as well as or better than traditional NLP models., Conclusion: Research and use of deep learning NLP in radiology is increasing. Acquaintance with this technology can help prepare radiologists for the coming changes in their field., (Copyright © 2020 American College of Radiology. Published by Elsevier Inc. All rights reserved.)

Introduction: We aimed to describe computed tomography (CT) findings of early complications after interventional hemorrhoid treatments in emergency department (ED) patients., Materials and Methods: We identified all ED patients requiring abdominal and/or pelvic CT between February 2012 and February 2019, and included only patients who underwent CT for suspected early (up to 30 days) post hemorrhoidectomy procedure complications. Presenting symptoms, salient CT findings and clinical outcomes were collected., Results: Overall, 48,425 abdominal and/or pelvic CTs were performed. Of these, we identified 12 patients (8 male, 4 female) who underwent CT in our ED following hemorrhoidectomy procedures. At presentation, peri-anal or abdominal pain was the most common symptom. One patient presented with hemodynamic instability. CT findings included proctitis (4/12), rectal perforation (2/12), peri-anal abscess (1/12) and peri-anal fistula (1/12). Two of the patients with proctitis presented with significant submucosal edema. On follow-up, three patients required intensive care hospitalization, and two of those underwent emergent laparotomy. The third patient died due to secondary infection during his hospitalization., Conclusion: Hemorrhoidectomy procedures may result in severe complications which should be recognized by ED radiologists. These complications carry a potential risk for significant clinical consequences. Both clinicians and radiologists should be aware of the possibility of such complications when patients present to the ED early after hemorrhoid procedures., Competing Interests: Declaration of competing interest None., (Copyright © 2019 Elsevier Inc. All rights reserved.)