Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples.

Long-read sequencing provides a more complete view of the genome than short-read sequencing, with advantages in the detection of structural variants, tandem repeats, and small variants (single nucleotide variants and insertions and deletions) in difficult-to-map regions. One limitation of long-read sequencing has been high input DNA requirements, with several micrograms required per sample. Here, we evaluated two methods of amplification-based long-read, whole-genome sequencing: Ultra-Low Input HiFi (ULI-HiFi) sequencing and droplet multiple displacement amplification (dMDA) sequencing.

Comparison of MRI, [18F]FDG-PET/CT, and [18F]FDG-PET/MRI for Initial Staging of Multiple Myeloma: A Systematic Review and Meta-analysis.

Purpose: This systematic review and meta-analysis compared the diagnostic performance of MRI, [18F]FDG-PET/CT, and [18F]FDG-PET/MRI in detecting focal bone lesions and bone marrow infiltration in the initial staging of patients with multiple myeloma (MM) who underwent both MRI and [18F]FDG-PET/CT or [18F]FDG-PET/MRI studies.

Patients And Methods: A systematic literature search was conducted across PubMed, Embase, and Cochrane databases, including studies comparing the performance of MRI (WB-MRI or spine/pelvis MRI), [18F]FDG-PET/CT, and/or [18F]FDG-PET/MRI in the same patients for MM initial staging. Pooled sensitivities and concordance between imaging modalities were analyzed using R (package META-R).

Comparison of Clinical Associations and Outcomes Between Superomedial and Inferior Pedicle Breast Reduction Surgery: A Retrospective Study.

Introduction: Historically, the inferior pedicle (IFP) procedure has been the dominant technique for the treatment of macromastia; however, the superomedial pedicle (SMP) approach allows for decreased operative times, reduced incision tension, and improved and longer lasting superior pole fullness. The goal of this study is to investigate and compare the clinical outcomes and complications associated with the inferior pedicle and superomedial pedicle approaches to reduction mammoplasty.

Materials And Methods: This retrospective study was conducted through a single surgeon's experience with a total of 444 patients from 2005-2024.

ADI-270: an armored allogeneic gamma delta T cell therapy designed to target CD70-expressing solid and hematologic malignancies.

Background: The tumor microenvironment (TME) poses challenges that limit the efficacy of conventional CAR-T cell therapies. Homing barriers, immunosuppressive factors, and target antigen heterogeneity can impair CAR-T cell functional activity within the TME. Alternative strategies have contemplated incorporating the use of gamma delta (γδ) T cells as a CAR-T cell approach to potentially overcome these limitations.

Benign Non-Infectious Scrotal Dermatoses: An Overview.

Dermatoses involving the scrotum include a wide array of conditions that frequently lead to decreased quality of life. Herein we present a thorough overview of the most common, non-infectious, benign conditions that may affect the scrotum and provide relevant scrotum-specific treatment options.

PSAT1 impairs ferroptosis and reduces immunotherapy efficacy via GPX4 hydroxylation.

Tumor cells adapt to the inflammatory tumor microenvironment (TME) and develop resistance to immunotherapy, with ferroptosis being a major form of tumor cell death. However, the mechanisms by which tumor cells coordinate TME stimuli and their unique metabolic traits to evade ferroptosis and develop resistance to immunotherapy remain unclear. Here we showed that interferon-γ (IFNγ)-activated calcium/calmodulin-dependent protein kinase II phosphorylates phosphoserine aminotransferase 1 (PSAT1) at serine 337 (S337), allowing it to interact with glutathione peroxidase 4 (GPX4) and stabilize the protein, counteracting ferroptosis.

PCK1 inhibits cGAS-STING activation by consumption of GTP to promote tumor immune evasion.

Hypoxia induces immunosuppressive phenotypes in tumor cells even in the presence of cytosolic DNA accumulation. The mechanisms by which tumor cells suppress hypoxia-induced cGAS-STING activation for immune evasion remain largely unclear. Here, we demonstrate that hypoxic stimulation induces JNK1/2-mediated S151 phosphorylation of phosphoenolpyruvate carboxykinase 1 (PCK1), a rate-limiting enzyme in gluconeogenesis.

Towards a learning healthcare community in the Bronx: evaluating the Bridging Research, Accurate Information and Dialogue (BRAID) model.

Background: Learning healthcare communities (LHCCs) have been proposed as a next-generation evolution of learning health systems that can advance health equity; however, a practical mechanism for enabling the active and continuous community engagement required for one has not yet been described in the literature. Recognizing that community-based participatory research (CBPR) could potentially meet this need, a team at the Montefiore Medical Center/Albert Einstein College of Medicine designed a novel evidence-based CBPR model - Bridging Research, Accurate Information and Dialogue (BRAID) - that initiates meaningful, longitudinal dialogues to foster bidirectional trust between researchers, clinicians, scientists and communities.

Methods: A mixed-methods cohort study of two BRAID cohorts was conducted between 2022 and 2023.

Streaming to Connect: Exploring How Social Connectedness Relates to Empathy Types and Physiological States in Remote Virtual Audiences.

Examining remote virtual audiences is a vital part of understanding social experiences in modern human-computer interaction contexts. Doing so raises intriguing questions about how these mediated connections relate to emotional and physiological states. The vagus nerve is central to socioemotional processing and physiological well-being, with its activation represented as vagally mediated heart rate variability (vmHRV).

Transferrin promotes fatty acid oxidation and liver tumor growth through PHD2-mediated PPARα hydroxylation in an iron-dependent manner.

Tumor cells reshape iron and lipid metabolism for their rapid proliferation. However, how tumor cells coordinate the interplay between tumor cell-specific iron homeostasis and lipid metabolism reprogramming to counteract energy shortages remains unclear. Here, we demonstrated that glucose deprivation in hepatocellular carcinoma (HCC) cells induced AMPK-dependent Transferrin S685 phosphorylation, which exposed Transferrin nuclear localization signal (NLS) for binding to importin α7 and subsequent nuclear translocation.

Patch Testing in Solid Organ Transplant Recipients: Experience From a Tertiary Medical Center Over 13 Years (2010-2022).

It is generally recommended that patients not be on immunosuppressive medications for patch testing, as these medications may suppress delayed-type hypersensitivity and lead to false negative results. There is a paucity of literature describing organ transplant recipients who underwent patch testing. The aim of this study is to examine patch testing results in solid organ transplant recipients over a 13-year period at our institution.

Australian outcomes from heart transplantation in the machine perfusion era.

Background: In the current era of heart transplantation, machine perfusion strategies are emerging as potential additions to the armamentarium of a transplant unit. Donation after circulatory death (DCD) donor hearts assessed through normothermic machine perfusion (NMP) has helped expand the donor pool. Hypothermic machine perfusion (HMP) is emerging as an alternative strategy to traditional static cold storage (SCS) when a prolonged ischemic time is anticipated in brain dead (BD) donors, this is important in Australia where long distant procurement is vital.

Psychological distress in Asian American informal caregivers: an analysis by disaggregated ethnic groups.

Background: Despite Asians being the fastest-growing ethnic group in the US, most studies have focused on Asian Americans as an aggregate racial/ethnic group. The burden of mental health problems is increasing among caregivers due to population aging, yet little is known about the distress experienced by Asian caregivers when examined by disaggregated ethnic groups.

Methods: Using 2019-2020 California Health Interview Survey data, we examined disparities in psychological well-beings between non-Hispanic White and Asian American adult caregivers, with an emphasis on understudied Asian ethnic groups.

Low preoperative hematocrit adversely affects short-term outcomes after arthroscopic rotator cuff repair.

Background: The purpose of this study was to investigate preoperative anemia as a risk factor for postoperative complications after arthroscopic rotator cuff repair (ARCR).

Methods: Adult patients who underwent ARCR from 2015-2020 were identified in the American College of Surgeons National Surgical Quality Improvement Program database. Patients were grouped according to the following preoperative hematocrit levels: normal (male >39%, female >36%), mild anemia (male 33%-39%, female 33%-36%), and moderate to severe anemia (male and female ≤33%).

Research protocol for bridging research, accurate information and dialogue (BRAID)-clinical trials: a mixed-methods study of a community-based intervention to improve trust and diversify participation in clinical trials.

Cultural beliefs, personal experiences, and historic abuses within the healthcare system-rooted in structural racism-all contribute to community distrust in science and medicine. This lack of trust, particularly within underserved communities, contributes to decreased participation in clinical trials and a lack of representation in the data. Open dialogue about community concerns and experiences related to research participation and medical care processes can help build trust and change attitudes and behaviors that affect community health.

An Iterative Approach to Polish the Nanopore Sequencing Basecalling for Therapeutic RNA Quality Control.

Nucleotide modifications deviate nanopore sequencing readouts, therefore generating artifacts during the basecalling of sequence backbones. Here, we present an iterative approach to polish modification-disturbed basecalling results. We show such an approach is able to promote the basecalling accuracy of both artificially-synthesized and real-world molecules.