Citations

Abstract Background Cardiac masses encompass a broad differential, including benign tumours, malignancies, and pseudotumours. Accurate diagnosis requires integration of clinical context, patient characteristics, lesion location, and imaging features. In select cases, tissue characterization is necessary. We describe a case of a rapidly enlarging interatrial mass following transcatheter aortic valve implantation (TAVI). Case summary A 70-year-old man underwent TAVI for severe low-flow, low-gradient aortic stenosis. Preprocedural imaging revealed an incidental interatrial mass consistent with lipomatous hypertrophy of the atrial septum (LHAS). Six months later, the mass showed significant interval growth, raising concern for malignancy. Multimodality imaging, including cardiac magnetic resonance imaging and FDG positron emission tomography yielded indeterminate results. An echocardiography-guided biopsy was performed, and histopathologic analysis confirmed LHAS with intralesional haemorrhage likely incurred during the TAVI procedure. Discussion While LHAS is typically benign and stable or slowly progressive, rare cases may present with atypical features and rapid growth, mimicking malignant cardiac tumours. This case represents the first reported instance of LHAS with haemorrhagic expansion.

The glomerular filtration rate (GFR) is a key indicator of kidney function, yet no ideal method exists for its direct measurement. This two-part review examines the development of GFR measurement techniques, focusing on their physiologic basis, performance characteristics, and clinical applications. Part 1 reviews endogenous markers used to estimate GFR (eGFR), including creatinine- and cystatin C-based equations, with emphasis on their derivation, limitations, and clinical use. Part 2 addresses exogenous filtration markers and measured GFR (mGFR) methodologies, highlighting comparative performance and specific uses. Emphasis is placed on innovation in marker development, highlighting the need for continued development and standardization to enhance accuracy and clinical utility.

Measured glomerular filtration rate (mGFR) remains the reference standard for precise assessment of kidney function when estimated approaches are insufficient. This second part of a two-part series reviews exogenous filtration markers used to obtain mGFR, including inulin, iothalamate, iohexol, and radionuclide-based tracers, with emphasis on their physiologic handling, analytic methods, accuracy, and clinical applicability. The review further examines emerging fluorescent and near-infrared tracers coupled with transcutaneous monitoring technologies that enable rapid or continuous assessment of GFR. Together, these approaches illustrate the evolution of mGFR measurement toward methods that are more practical, scalable, and responsive to dynamic changes in kidney function, while maintaining analytical accuracy.

BACKGROUND: With pulmonary hypertension (PH), a pulmonary artery wedge pressure (PAWP)>15 mm Hg is used to diagnose left heart dysfunction, but some patients with adjudicated group 1 PH demonstrate PAWP>15 mm Hg. The primary objective of the study was to evaluate group 1 PH with high PAWP>15 mm Hg. METHODS: Patients with adjudicated group 1 PH from PVDOMICS between 2016 and 2019 were separated into high PAWP(>15 mm Hg) or normal PAWP and compared with adjudicated combined pre- and postcapillary (Cpc) PH related to heart failure with preserved ejection fraction (HFpEF). Participants underwent dynamic right heart catheterization and metabolomics. Findings were validated in 3 independent cohorts with adjudicated group 1 PH (validation cohorts 1 and 2 with exercise right heart catheterization and validation cohort 3 with resting right heart catheterization). RESULTS: Of 325 patients with group 1 PH (73% women, mean age 53.0±14.3 years), 15% (n=48) had high PAWP. Group 1 PH+high PAWP demonstrated greater obesity, left ventricular hypertrophy ( P <0.0002), left ventricular strain impairment ( P <0.0001), and decreased left ventricular compliance ( P <0.0001) compared with group 1 PH+normal PAWP, with changes comparable to Cpc-PH HFpEF (n=75). Compared with Cpc-PH HFpEF, left atrial function was better in group 1 PH+high PAWP with lower PAWP V wave, higher left atrial compliance, and left atrial ejection fraction ( P <0.0001 for all). Metabolomics demonstrated little difference between group 1 PH with high versus normal PAWP but large differences between group 1 PH+high PAWP versus Cpc-PH HFpEF (100 metabolites altered at false discovery rate P <0.05). Elevated PAWP was also observed in 18% of group 1 PH in the validation cohort 1 (n=402), with exercise PAWP response intermediately abnormal in group 1 PH+high PAWP relative to Cpc-PH HFpEF and group 1 PH+normal PAWP (interaction P <0.0001). Elevated PAWP was similarly observed in 22% and 19% of group 1 PH in validation cohorts 2 (n=55) and 3 (n=787), respectively. CONCLUSIONS: Approximately 1 in 5 adjudicated patients with group 1 PH has elevation in resting PAWP despite severe pulmonary vascular dysfunction and metabolomics consistent with traditionally defined group 1 PH. Despite resting PAWP elevation, these patients with group 1 PH were metabolomically and biologically distinct from Cpc PH HFpEF, with better left atrial function and diastolic reserve during exercise. These data emphasize the limitations of using resting PAWP alone to separate group 1 PH from HFpEF and call for development of more integrated clinical diagnostic criteria.

Objective: To explore the existing evidence on novel imaging modalities that may aid in prognostication of vestibular schwannoma (VS) clinical outcomes across various management approaches. Study design: Scoping review. Setting: Not applicable. Patients: Individuals diagnosed with VS. Interventions: Novel imaging techniques. Main outcome measures: Tumor growth and response to medical therapy. Results: A total of 18 articles were included in this review. Of these, 7 focused on pretreatment prognosis, 6 evaluated radiosurgery outcomes, 4 examined microsurgery outcomes, and 1 assessed response to bevacizumab. The imaging modalities investigated included radiomics (n = 10), positron emission tomography (PET; n = 2), dynamic contrast-enhanced MRI (DCE-MRI; n = 2), both PET and DCE-MRI (n = 1), magnetic resonance elastography (MRE; n = 1), contrast-enhanced CT (CE-CT; n = 1), and slip interface imaging (SII; n = 1). Radiomic studies yielded encouraging results in predicting tumor growth after wait-and-scan and radiosurgery, with reported accuracies ranging from 52% to 88%, sensitivities from 13% to 95%, specificities from 50% to 94%, and area under the curves from 0.65 to 0.99. PET studies identified several promising ligands associated with tumor growth during wait-and-scan, suggesting a potential role in prognostication. DCE-MRI also demonstrated associations with tumor growth and treatment response to bevacizumab. Studies on MRE, CE-CT, and SII identified novel imaging parameters associated with tumor stiffness and adhesion. Conclusions: Several emerging imaging modalities hold potential for improving clinical outcome prognostication in VS. Techniques such as radiomics, PET, and DCE-MRI have shown promising results; however, the supporting evidence is still limited and heterogeneous. Further research is necessary to validate and refine these approaches to enhance their clinical utility.

INTRODUCTION: Chronic gastroduodenal disorders are highly prevalent and encompass heterogeneous pathophysiology. Autonomic dysfunction may contribute, but its relative contribution to disease pathophysiology and symptoms is unclear. This study aimed to clarify the contributions of autonomic dysfunction in gastroduodenal disorders and symptom associations using multimodal testing, hypothesizing that distinct disorder subgroups would be revealed. METHODS: This prospective observational cohort study included 80 patients with chronic gastroduodenal symptoms. Participants underwent expert clinician-led autonomic evaluation, body surface gastric mapping (BSGM; Gastric Alimetry, New Zealand), and gastric emptying scintigraphy testing. BSGM phenotyping, gastric emptying cutoffs, and autonomic criteria followed standard criteria. RESULTS: Gastroparesis was diagnosed in 27 (33.8%) patients. Autonomic dysfunction was present in 21 (26.3%) patients, and abnormal BSGM in 20 (25%). Autonomic dysfunction and abnormal BSGM were both more prevalent in gastroparesis (51.9% vs 13.2%, P = 0.001; and 44.4% vs 15.1%, P = 0.005, respectively). However, these diagnoses tended not to overlap, with patients having autonomic dysfunction generally exhibiting normal BSGM tests. Autonomic dysfunction independently predicted delayed gastric emptying (OR 13.8, P < 0.001) and was associated with earlier meal responses (higher meal response ratio, P = 0.04) and worse postprandial distress symptoms ( P < 0.05). DISCUSSION: Autonomic dysfunction independently predicted delayed gastric emptying and revealed a gastroparesis mechanism distinct from gastric myoelectrical impairment. Autonomic dysfunction altered the postprandial gastric motor response and was associated with a greater symptom burden. Multimodal physiological testing including autonomic profiling reveals distinct mechanistic subgroups in patients with chronic gastroduodenal symptoms.

Abstract The human X chromosome accounts for ∼5% of the genome. Despite its size, the role of X-chromosomal variants in human diseases is not well understood, mainly due to its distinct inheritance pattern and the frequent omission of sex chromosomes from genome-wide association studies. This study used whole-genome sequencing data from 888 multiple system atrophy (MSA) cases and 7128 controls to perform an X-chromosome-wide common variant association study. Our analyses revealed two sex-differential risk loci: one located at Xq28, associated with increased risk for MSA in females [index variant: rs4898389, odds ratio (OR) = 1.69, 95% confidence interval (CI) = 1.40–2.03, P-value = 2.43 × 10⁻⁸], and another at Xp22.2 within the TBL1X gene, identified in males (index variant: rs6638956, OR = 1.48, 95%CI = 1.26–1.73, P-value = 9.92 × 10⁻⁷). In the Xq28 locus, colocalization analyses pointed to FAM3A and PLXNA3 as genes of interest. These findings emphasize the vital role of sex-differential genetic factors in the pathogenesis of MSA.

Abstract INTRODUCTION The Centiloid scale is the standard for amyloid (Aβ) PET quantification in research and clinical settings. However, variability between tracers and scanners remains a challenge. METHODS This study introduces DeepSUVR, a deep learning method to correct Centiloid quantification, by penalizing implausible longitudinal trajectories during training. The model was trained using data from 2,129 participants (7,149 Aβ positron emission tomography [PET] scans) in the Australian Imaging, Biomarkers and Lifestyle Study of ageing (AIBL)/Alzheimer's Disease Neuroimaging Initiative (ADNI) and validated using 15,807 Aβ PET scans from 10,543 participants across 10 external datasets. RESULTS DeepSUVR increased correlation between tracers, and reduced variability in the Aß‐negatives. It showed significantly stronger association with cognition, visual reads, neuropathology, and increased longitudinal consistency between studies. DeepSUVR also increased the effect size for detecting small treatment related slowing of amyloid accumulation in the A4 study. DISCUSSION DeepSUVR substantially advances Aβ PET quantification, outperforming all standard approaches, which is particularly important for clinical decision making and to detect subtle or early changes in Aβ. Highlights Novel artificial intelligence (AI)‐method that penalizes biologically implausible longitudinal trajectories, enabling the model to learn standardized uptake value ratios (SUVR) correction factors without requiring longitudinal data at inference time. Improves Centiloid consistency across tracers and studies, significantly enhancing cross‐sectional and longitudinal amyloid positron emission tomography (PET) quantification. DeepSUVR‐derived Centiloids show stronger associations with cognition, visual reads, and neuropathology. Longitudinal variability is reduced three‐ to five‐fold, enabling more reliable tracking of amyloid accumulation and better detection of treatment effects. Novel reference and target masks derived from DeepSUVR replicate most of the model's performance, offering a practical alternative for integration into existing pipelines.

Abstract Objective To test the effectiveness of a surgical web‐based decision aid (DA) in improving knowledge. Summary of Background Data DAs support decision making by providing information about the options. Methods A stepped wedge trial was conducted in 10 National Cancer Institute Community Oncology Research Program clinics (Alliance for Clinical Trials in Oncology). Clinics were randomized to time of transition from usual care (UC) to delivery of a web‐based DA. Patients with stage 0 through 3 breast cancer being considered for surgery were enrolled. Knowledge (primary outcome) was measured using the Breast Cancer Surgery Decision Quality Instrument and patients were asked, “How informed do you feel?” Intervention effects were tested with linear mixed‐effects models, accounting for surgeon and clinic‐level clustering, time, and enrollment after COVID. Additional models controlled for demographics. Results A total of 44% of DA arm patients reviewed the DA and 58% in UC arm reported reviewing “any information.” Being in the DA arm versus UC was not associated with knowledge. However, “review of information” was associated with higher knowledge. In addition, non‐White race and lower education were associated with lower knowledge. The DA arm was associated with higher perceptions of feeling informed (parameter estimate 1.36; 95% CI, 0.18–2.55; p = .02); this persisted even when controlling for review of information or demographics. Conclusion Improved knowledge was not demonstrate with a web‐based DA versus UC. Interestingly, the DA was associated with a higher likelihood of feeling informed. Future research will explore the discrepancy between patients feeling informed but having low knowledge, especially for disadvantaged patients. Trial Registration ClinicalTrials.gov Identifier: NCT0376600

The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Vaginal Cancer outline the recommended diagnostic workup, staging considerations, and treatment options for this rare malignancy. Because vaginal cancer is uncommon and shares many biologic and clinical characteristics with cervical cancer, several management recommendations, particularly systemic therapy, are extrapolated from evidence and practices established for cervical cancer. This guideline excerpt summarizes key components of management, including diagnostic evaluation and workup, principles of staging, pathology considerations, radiation therapy principles, and primary treatment recommendations for both early-stage and advanced disease. It also details approaches to manage relapses, including locoregional recurrence and distant metastases, and provides an in-depth overview of systemic therapy recommendations for vaginal cancer.