Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.

Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is, penetrance for a gene.

Precision in Liver Diagnosis: Varied Accuracy Across Subgroups and the Need for Variable Thresholds in Diagnosis of MASLD.

Background And Aims: The performance of non-invasive liver tests (NITs) is known to vary across settings and subgroups. We systematically evaluated whether the performance of three NITs in detecting advanced fibrosis in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) varies with age, sex, body mass index (BMI), type 2 diabetes mellitus (T2DM) status or liver enzymes.

Methods: Data from 586 adult LITMUS Metacohort participants with histologically characterised MASLD were included.

Longitudinal measures of peripheral optical quality in young children.

Purpose: To assess longitudinal changes in optical quality across the periphery (horizontal meridian, 60°) in young children who are at high (HR) or low risk (LR) of developing myopia, as well as a small subgroup of children who developed myopia over a 3-year time frame.

Methods: Aberrations were measured every 6 months in 92 children with functional emmetropia at baseline. Children were classified into HR or LR based on baseline refractive error and parental myopia.

The association of travel distance and other patient characteristics with breast cancer stage at diagnosis and treatment completion at a rural Rwandan cancer facility.

Background: Butaro Cancer Center of Excellence (BCCOE) was founded to serve Rwanda's rural low-income population, providing subsidized cancer diagnosis and treatment with transport stipends for the lowest-income patients. We examined whether travel distance to BCCOE was associated with advanced-stage diagnoses and treatment completion.

Methods: We conducted a retrospective cohort study using medical record data from BCCOE patients with pathologically-confirmed breast cancer from 2012-2016.

Ways to Measure Metals: From ICP-MS to XRF.

Purpose Of Review: This review explores the use of Inductively Coupled Plasma Mass Spectrometry (ICP-MS) and X-ray Fluorescence (XRF) for quantifying metals and metalloids in biological matrices such as hair, nails, blood, bone, and tissue. It provides a comprehensive overview of these methodologies, detailing their technological limitations, application scopes, and practical considerations for selection in both laboratory and field settings. By examining traditional and novel aspects of each method, this review aims to guide researchers and clinical practitioners in choosing the most suitable analytical tool based on their specific needs for sensitivity, precision, speed, and sample preparation.

PSMA PET/CT based multimodal deep learning model for accurate prediction of pelvic lymph-node metastases in prostate cancer patients identified as candidates for extended pelvic lymph node dissection by preoperative nomograms.

Purpose: To develop and validate a prostate-specific membrane antigen (PSMA) PET/CT based multimodal deep learning model for predicting pathological lymph node invasion (LNI) in prostate cancer (PCa) patients identified as candidates for extended pelvic lymph node dissection (ePLND) by preoperative nomograms.

Methods: [Ga]Ga-PSMA-617 PET/CT scan of 116 eligible PCa patients (82 in the training cohort and 34 in the test cohort) who underwent radical prostatectomy with ePLND were analyzed in our study. The Med3D deep learning network was utilized to extract discriminative features from the entire prostate volume of interest on the PET/CT images.

Preoperative Cardiac Assessment for Coronary Artery Disease: From Symptoms to Angiography.

Although cardiovascular anesthesiologists play a role in the multidisciplinary heart team, they are generally not involved prior to the diagnosis of coronary artery disease. This work was designed to broadly cover the factors influencing decision-making when proceeding with coronary angiography in a patient with suspected coronary artery disease. The authors cover the principles, rationale, benefits, and downsides of common tests involved.

Subendocardial ischemia: does CMD really exist?

Patients with angina but without obstructive epicardial coronary disease still require a specific mechanistic diagnosis to enable targeted treatment. The overarching term "coronary microvascular dysfunction" (CMD) has been applied broadly - but is it correct? We present a series of case examples culminating a systematic exploration of our large clinical database to distinguish among four categories of coronary pathophysiology. First, by far the largest group of "no stenosis angina" patients exhibits subendocardial ischemia during intact flow through diffuse epicardial disease during dipyridamole vasodilator stress.

Performance of an Electronic Health Record-Based Automated Pulmonary Embolism Severity Index Score Calculator: Cohort Study in the Emergency Department.

Background: Studies suggest that less than 4% of patients with pulmonary embolisms (PEs) are managed in the outpatient setting. Strong evidence and multiple guidelines support the use of the Pulmonary Embolism Severity Index (PESI) for the identification of acute PE patients appropriate for outpatient management. However, calculating the PESI score can be inconvenient in a busy emergency department (ED).

The growing complexity of the control of the hypothalamic pituitary thyroid axis and brown adipose tissue by leptin.

The balance between food intake and energy expenditure is precisely regulated to maintain adipose stores. Leptin, which is produced in and released from adipose in direct proportion to its size, is a major contributor to this control and initiates its homeostatic responses largely via binding to leptin receptors (LepR) in the hypothalamus. Decreases in hypothalamic LepR binding signals starvation, leading to hunger and reduced energy expenditure, whereas increases in hypothalamic LepR binding can suppress food intake and increase energy expenditure.

Irregular sleep-wake rhythm disorder: From the pathophysiologic perspective to the treatment.

Irregular sleep-wake rhythm disorder (ISWRD) is an intrinsic circadian rhythm disorder caused by loss of the brain's circadian regulation, through changes of the input and/or output to the suprachiasmatic nucleus (SCN), or of the SCN itself. Although there are limited prevalence data for this rare disease, ISWRD is associated with neurodegenerative disorders, including the Alzheimer disease (AD) and the Parkinson disease (PD), which will become increasingly prevalent in an aging population. It additionally presents in childhood developmental disorders, psychiatric disorders, and traumatic brain injury (TBI).

Psychometric testing of the caring for the caregiver survey for healthcare providers.

Aim: The purpose of this study was to assess the factorial structure and model fit of the Caring for the Caregiver Scale.

Background: Caregiving is an all-encompassing role that results in negative health consequences. Healthcare providers require specific knowledge and clinical skills to support caregivers with health promotion.

Sentiments of Individuals with Interstitial Cystitis/Bladder Pain Syndrome Toward Pentosan Polysulfate Sodium: Infodemiology Study.

Background: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a multifactorial, chronic syndrome involving urinary frequency, urgency, and bladder discomfort. These IC/BPS symptoms can significantly impact individuals' quality of life, affecting their mental, physical, sexual, and financial well-being. Individuals sometimes rely on peer-to-peer support to understand the disease and find methods of alleviating symptoms.

Assessing Lung Cancer Screening Eligibility of Lung Cancer Patients in the Boston Lung Cancer Study: An Analysis of 7,186 Lung Cancer Cases.

Background: To evaluate the proportion of lung cancer patients who would have qualified for lung cancer screening under different eligibility criteria in the Boston Lung Cancer Study (BLCS).

Methods: BLCS participants diagnosed with lung cancer from 1992-2024 were identified for analysis. The proportion of patients who would have qualified for screening under the 2021 U.

Redo Surgical Aortic Valve Replacement versus Valve-in-Valve Transcatheter Aortic Valve Replacement for Degenerated Bioprosthetic Valves.

Background: Valve-in-valve transcatheter aortic valve replacement (ViV-TAVR) is associated with improved perioperative safety compared to redo surgical aortic valve replacement (redo-SAVR), but long-term outcomes remain uncertain. We therefore compare long-term outcomes of ViV-TAVR and redo-SAVR.

Methods: The study included 1:1 propensity-matched Medicare beneficiaries with degenerated bioprosthetic valves admitted between 09/29/2011 and 12/30/2020 undergoing either redo-SAVR or ViV-TAVR.

The Society of Thoracic Surgeons National Intermacs Database Risk Model for Durable Left Ventricular Assist Device Implantation.

Background: Statistical risk models for durable left ventricular assist device (LVAD) implantation inform candidate selection, quality improvement, and evaluation of provider performance. We developed a 90-day mortality risk model utilizing The Society of Thoracic Surgeons National Intermacs Database (STS Intermacs).

Methods: STS Intermacs was queried for primary durable LVAD implants from 1/ 2019 - 9/2023.

Joint image reconstruction and segmentation of real-time cardiac MRI in free-breathing using a model based on disentangled representation learning.

Purpose: To investigate image quality and agreement of derived cardiac function parameters in a novel joint image reconstruction and segmentation approach based on disentangled representation learning, enabling real-time cardiac cine imaging during free-breathing.

Methods: A multi-tasking neural network architecture, incorporating disentangled representation learning, was trained using simulated examinations based on data from a public repository along with MR scans specifically acquired for model development. An exploratory feasibility study evaluated the method on undersampled real-time acquisitions using an in-house developed spiral bSSFP pulse sequence in eight healthy participants and five patients with intermittent atrial fibrillation.

Pediatric-type Myoid Neoplasms of Somatic Soft Tissue: A Clinicopathological and Molecular Genetic Study of 78 Tumors, Highlighting Indolent Clinical Behavior and Frequent SRF Gene Rearrangements.

Soft tissue tumors with smooth muscle differentiation are rare in pediatric patients. Despite often showing morphologic features sufficient for classification as "leiomyosarcoma" in adults (e.g.

Perspective: Challenges for Personalized Nutrition in the Current U.S. Regulatory Framework and Future Opportunities.

Personalized Nutrition (PN) aims to provide tailored dietary recommendations to improve a person's health outcomes by integrating a multitude of individual-level information and support desired behavior changes. The field is rapidly evolving with technological advances. As new biomarkers are discovered, wearables and other devices can now provide up-to-the-minute insights, and artificial intelligence (AI) and machine learning (ML) models support recommendations and lifestyle behavior change.

Gene copy deletion of STK11, KEAP1, and SMARCA4: clinicopathologic features and association with outcomes to immunotherapy +/- chemotherapy in nonsquamous non-small cell lung cancer.

Background: Mutations in STK11, KEAP1, and SMARCA4 predispose to inferior immune checkpoint inhibitor (ICI) efficacy in non-small cell lung cancer (NSCLC), particularly among KRAS-mutant cases. However, the frequency, clinicopathologic features, and clinical impact of deletions in these genes are poorly characterized.

Methods: Clinicopathologic correlates of STK11, KEAP1, and SMARCA4 deletion were analyzed in nonsquamous NSCLCs at Dana-Farber Cancer Institute (DFCI).

Future directions in the evaluation and management of newly diagnosed metastatic cancer.

There is a much debate regarding optimal selection in patients with metastatic cancer who should undergo local treatment (surgery or radiation treatment) to the primary tumor and/or metastases. Additionally, the optimal treatment of newly diagnosed metastatic cancer is largely unclear. Current prognostication systems to best inform these clinical scenarios are limited, as all metastatic patients are grouped together as having Stage IV disease without further incorporation of patient and disease-specific covariates that significantly impact patient outcomes.