G-SET-DCL: a guided sequential episodic training with dual contrastive learning approach for colon segmentation.

Purpose: This article introduces a novel deep learning approach to substantially improve the accuracy of colon segmentation even with limited data annotation, which enhances the overall effectiveness of the CT colonography pipeline in clinical settings.

Methods: The proposed approach integrates 3D contextual information via guided sequential episodic training in which a query CT slice is segmented by exploiting its previous labeled CT slice (i.e.

Accurate identification of primary site in tumors of unknown origin (TUO) using DNA methylation.

Tumors of unknown origin (TUO) generally result in poor patient survival and are clinically difficult to address. Identification of the site of origin in TUO patients is paramount to their improved treatment and survival but is difficult to obtain with current methods. Here, we develop a random forest machine learning TUO methylation classifier using a large number of primary and metastatic tumor samples.

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.

Associations between per-and polyfluoroalkyl substances (PFAS) and county-level cancer incidence between 2016 and 2021 and incident cancer burden attributable to PFAS in drinking water in the United States.

Background: Exposure to per- and polyfluoroalkyl substances (PFAS) has been linked with various cancers. Assessment of PFAS in drinking water and cancers can help inform biomonitoring and prevention efforts.

Objective: To screen for incident cancer (2016-2021) and assess associations with PFAS contamination in drinking water in the US.

Deep learning model for automatic detection of different types of microaneurysms in diabetic retinopathy.

Purpose: This study aims to develop a deep-learning-based software capable of detecting and differentiating microaneurysms (MAs) as hyporeflective or hyperreflective on structural optical coherence tomography (OCT) images in patients with non-proliferative diabetic retinopathy (NPDR).

Methods: A retrospective cohort of 249 patients (498 eyes) diagnosed with NPDR was analysed. Structural OCT scans were obtained using the Heidelberg Spectralis HRA + OCT device.

Continual Versus Occasional Blood Pressure (COOL-BP) in Remote Hypertension Management.

Background: Remote hypertension management programs have emerged as potential solutions to improve poor rates of blood pressure (BP) control. The Continual Versus Occasional Blood Pressure (COOL-BP) Study investigated the feasibility and efficacy of using a cuffless wrist BP monitor in a remote hypertension (HTN) program.

Methods: COOL-BP was a prospective single-arm study within a larger HTN management program at Mass General Brigham (MGB).

Immunogenomic determinants of exceptional response to immune checkpoint inhibition in renal cell carcinoma.

Immune checkpoint inhibitors can lead to 'exceptional', durable responses in a subset of persons. However, the molecular basis of exceptional response (ER) to immunotherapy in metastatic clear cell renal cell carcinoma (mccRCC) has not been well characterized. Here we analyzed pretherapy genomic and transcriptomic data in treatment-naive persons with mccRCC treated with standard-of-care immunotherapies: (1) combination of programmed cell death protein and ligand 1 (PD1/PDL1) and cytotoxic T lymphocyte-associated protein 4 inhibitors (IO/IO) or (2) combination of PD1/PDL1 and vascular endothelial growth factor (VEGF) receptor inhibitors (IO/VEGF).

Ongoing replication stress tolerance and clonal T cell responses distinguish liver and lung recurrence and outcomes in pancreatic cancer.

Patients with metastatic pancreatic ductal adenocarcinoma survive longer if disease spreads to the lung but not the liver. Here we generated overlapping, multi-omic datasets to identify molecular and cellular features that distinguish patients whose disease develops liver metastasis (liver cohort) from those whose disease develops lung metastasis without liver metastases (lung cohort). Lung cohort patients survived longer than liver cohort patients, despite sharing the same tumor subtype.

Prospective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma.

Human tumors are diverse in their natural history and response to treatment, which in part results from genetic and transcriptomic heterogeneity. In clinical practice, single-site needle biopsies are used to sample this diversity, but cancer biomarkers may be confounded by spatiogenomic heterogeneity within individual tumors. Here we investigate clonally expressed genes as a solution to the sampling bias problem by analyzing multiregion whole-exome and RNA sequencing data for 450 tumor regions from 184 patients with lung adenocarcinoma in the TRACERx study.

The importance of trunk motion in wearable based infant spontaneous movement analysis.

The characteristics of spontaneous movements in infants are essential for the early detection of neurological pathologies, with the Prechtl method being a widely recognized approach. While the Prechtl method is effective in predicting motor risks, its reliance on the evaluator's expertise limits its scalability, particularly in low-income areas. In such contexts, the use of inertial sensors combined with automated analysis presents a promising accessible alternative; however, more research is necessary to get results comparable to those of the Precht method.

Wireless power-up and readout from a label-free biosensor.

Wearable and implantable biosensors have rapidly entered the fields of health and biomedicine to diagnose diseases and physiological monitoring. The use of wired medical devices causes surgical complications, which can occur when wires break, become infected, generate electrical noise, and are incompatible with implantable applications. In contrast, wireless power transfer is ideal for biosensing applications since it does not necessitate direct connections between measurement tools and sensing systems, enabling remote use of the biosensors.

UW supplementation with AP39 improves liver viability following static cold storage.

Static cold storage of donor livers at 4 °C incompletely arrests metabolism, ultimately leading to decreases in ATP levels, oxidative stress, cell death, and organ failure. Hydrogen Sulfide (HS) is an endogenously produced gas, previously demonstrated to reduce oxidative stress, reduce ATP depletion, and protect from ischemia and reperfusion injury. HS is difficult to administer due to its rapid release curve, resulting in cellular death at high concentrations.

Global profiling of alternative splicing in non-small cell lung cancer reveals novel histological and population differences.

Lung cancer is one of the most frequently diagnosed cancers in the US. African-American (AA) men are more likely to develop lung cancer with higher incidence and mortality rates than European-American (EA) men. Herein, we report high-confidence alternative splicing (AS) events from high-throughput, high-depth total RNA sequencing of lung tumors and non-tumor adjacent tissues (NATs) in two independent cohorts of patients with adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC).

State-level policies alone are insufficient to meet the federal food waste reduction goal in the United States.

The United States Food Loss and Waste Reduction Goal seeks to reduce national food waste by 50%, down to 74 kg per capita, by 2030. Here we investigate state policies' alignment with the federal goal across four policy categories. We develop a policy scoring matrix and apply it to wasted food solutions listed in the non-profit ReFED's database to derive ranges of food waste diversion potential and projected generation across states.

Alkaline phosphatase decline and pain response as predictors of overall survival benefit in patients treated with radium-223: a post hoc analysis of the REASSURE study.

Background: Alkaline phosphatase (ALP) declines and pain responses can occur during radium-223 (Ra) treatment, but their association with treatment outcomes is unclear.

Methods: For patients with metastatic castration-resistant prostate cancer treated with Ra in the REASSURE study, we investigated whether ALP decline (Week 12) and/or pain response (during treatment) are associated with improved overall survival (OS). The Brief Pain Inventory-Short Form (BPI-SF) was used to assess pain at baseline and pain response (in patients with baseline BPI-SF score ≥2).

Epigenetics and individuality: from concepts to causality across timescales.

Traditionally, differences among individuals have been divided into genetic and environmental causes. However, both types of variation can underlie regulatory changes in gene expression - that is, epigenetic changes - that persist across cell divisions (developmental differentiation) and even across generations (transgenerational inheritance). Increasingly, epigenetic variation among individuals is recognized as an important factor in human diseases and ageing.

Cross-species analysis of genetic architecture and polygenic risk scores for non-contact ACL rupture in dogs and humans.

Non-contact anterior cruciate ligament (ACL) rupture is a common serious orthopaedic disease in humans and dogs. Familial risk has been recognized in both species but interactions between genetic effects and environmental risk are not understood. We investigated ACL rupture heritability, genetic architecture, selection pressure, sharing of risk genes and biological pathways, and polygenic risk score (PRS) prediction of disease risk.

Gestational stress disrupts dopamine and oxytocin signaling in the postpartum reward system of rats: implications for mood, motivation and mothering.

Postpartum depression (PPD) affects up to 20% of new mothers and has adverse consequences for the well-being of both mother and child. Exposure to stress during pregnancy as well as dysregulation in the mesolimbic dopamine (DA) reward system and its upstream modulator oxytocin (OT) have been independently linked to PPD. However, no studies have directly examined DA or OT signaling in the postpartum brain after gestational stress.

Uncovering genetic determinants of antioxidant properties in Thai landrace rice through genome-wide association analysis.

Pigmented rice (Oryza sativa L.) is recognized as a source of natural antioxidant compounds, such as flavonoids, oryzanol, tocopherol, and anthocyanin. Because of their nutritional benefits, anthocyanin-enriched or pigmented rice varieties are feasible alternatives for promoting human health.

Angiotensin type 1 and type 2 receptors-induced mitochondrial dysfunction promotes ferroptosis in cardiomyocytes.

Previous studies suggest that ferroptosis is involved in cardiovascular diseases. The aim of the present study is to investigate the causal relationship between angiotensin II type 1 and type 2 receptors (ATR) activities and mitochondrial dysfunction in induction of cardiomyocyte ferroptosis. Human AC16 cardiomyocytes were first pre-treated with an ATR blockers, before stimulated with angiotensin II (Ang II) for 24 h.