561,352 results match your criteria: "NY; Icahn School of Medicine at Mount Sinai[Affiliation]"

Our previous studies revealed the existence of a Universal Receptive System that regulates interactions between cells and their environment. This system is composed of DNA- and RNA-based Teazeled receptors (TezRs) found on the surface of prokaryotic and eukaryotic cells, as well as integrases and recombinases. In the current study, we aimed to provide further insight into the regulatory role of TezR and its loss in Staphylococcus aureus gene transcription.

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Background: Uncontrolled hypertension is the leading modifiable risk factor for cardiovascular disease mortality and remains high in low-middle income countries like Haiti. Barriers and facilitators to achieving hypertension control in urban Haiti remain poorly understood. Elucidating these factors could lead to development of successful interventions.

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Objectives: Pica is a non-nutritive eating behavior. The potential impact of pica on oral health and the association between pica and anemia are understudied. We examined the current evidence on the relationship between pica practices, anemia, and oral health outcomes.

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Nearly all pancreatic adenocarcinomas (PDAC) are genomically characterized by KRAS exon 2 mutations. Most patients with PDAC present with advanced disease and are treated with cytotoxic therapy. Genomic biomarkers prognostic of disease outcomes have been challenging to identify.

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Large floods drive changes in cause-specific mortality in the United States.

Nat Med

January 2025

Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, USA.

Flooding greatly endangers public health and is an urgent concern as rapid population growth in flood-prone regions and more extreme weather events will increase the number of people at risk. However, an exhaustive analysis of mortality following floods has not been conducted. Here we used 35.

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The complement system and neutrophils constitute the two main pillars of the host innate immune defense against infection by bacterial pathogens. Here, we identify T-Mac, a novel virulence factor of the periodontal pathogen Treponema denticola that allows bacteria to evade both defense systems. We show that T-Mac is expressed as a pre-protein that is cleaved into two functional units.

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Purpose: This study is to evaluate duration of oocyte cryostorage and association with thaw survival, fertilization, blastulation, ploidy rates, and pregnancy outcomes in patients seeking fertility preservation.

Methods: Retrospective cohort study to evaluate clinical outcomes in patients who underwent fertility preservation from 2011 to 2023 via oocyte vitrification for non-oncologic indications. Primary outcome was thaw survival rate.

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Advances in imaging techniques have evolved, allowing for early noninvasive diagnosis and improved management of high-risk patients with hepatocellular carcinoma (HCC). The hallmark imaging features of HCC on multiphasic cross-sectional imaging can be explained by the multistep process of hepatocarcinogenesis and is seen in 60% of cases. However, approximately 40% of cases do not abide by the classic imaging appearance and may pose a diagnostic challenge for radiologists.

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Purpose: Social determinants of health including neighborhood socioeconomic status, have been established to play a profound role in overall access to care and outcomes in numerous specialized disease entities. To provide glioblastoma multiforme (GBM) patients with high-quality care, it is crucial to identify predictors of hospital length of stay (LOS), discharge disposition, and access to postoperative adjuvant chemoradiation. In this study, we incorporate a novel neighborhood socioeconomic status index (NSES) and develop three predictive algorithms for assessing post-operative outcomes in GBM patients, offering a tool for preoperative risk stratification of GBM patients.

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Point-of-care ultrasound (POCUS) has emerged as a standard of care across a variety of healthcare settings due to its ability to provide critical clinical information and as well as procedural guidance to clinicians directly at the bedside. Implementation of enterprise imaging (EI) strategies is needed such that POCUS images can be appropriately captured, indexed, managed, stored, distributed, viewed, and analyzed. Because of its unique workflow and educational requirements, reliance on traditional order-based workflow solutions may be insufficient.

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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.

Cerebellum

January 2025

Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.

A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.

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Background: In the United States (U.S.), the prevalence of anxiety and depression is increasing, yet significant barriers to mental health treatment remain.

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Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.

Nat Genet

January 2025

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.

Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant.

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Early therapeutic intervention in high-risk smoldering multiple myeloma (HR-SMM) has shown benefits, however, no studies have assessed whether biochemical progression or response depth predicts long-term outcomes. The single-arm I-PRISM phase II trial (NCT02916771) evaluated ixazomib, lenalidomide, and dexamethasone in 55 patients with HR-SMM. The primary endpoint, median progression-free survival (PFS), was not reached (NR) (95% CI: 57.

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Background: Digital health technologies are increasingly being integrated into mental health care. However, the adoption of these technologies can be influenced by patients' digital literacy and attitudes, which may vary based on sociodemographic factors. This variability necessitates a better understanding of patient digital literacy and attitudes to prevent a digital divide, which can worsen existing health care disparities.

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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Am J Hum Genet

December 2024

Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

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Mathematical modeling of impacts of patient differences on renin-angiotensin system and applications to COVID-19 lung fibrosis outcomes.

Comput Biol Med

January 2025

Department of Chemical and Biological Engineering, University at Buffalo, The State University of New York, Buffalo, NY, 14260, USA; Department of Biomedical Engineering, University at Buffalo, The State University of New York, Buffalo, NY, 14260, USA; Institute for Artificial Intelligence and Data Science, University at Buffalo, The State University of New York, Buffalo, NY, 14260, USA; Witebsky Center for Microbial Pathogenesis and Immunology, University at Buffalo, The State University of New York, Buffalo, NY, 14203, USA; Department of Pharmaceutical Sciences, University at Buffalo, The State University of New York, Buffalo, NY, 14215, USA. Electronic address:

Patient-specific premorbidity, age, and sex are significant heterogeneous factors that influence the severe manifestation of lung diseases, including COVID-19 fibrosis. The renin-angiotensin system (RAS) plays a prominent role in regulating the effects of these factors. Recent evidence shows patient-specific alterations of RAS peptide homeostasis concentrations with premorbidity and the expression level of angiotensin-converting enzyme 2 (ACE2) during COVID-19.

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Purpose: To create and implement a Whole Personhood in Medical Education curriculum including Visual Thinking Strategies (VTS), close reading, and creative practice that features creative works by BIPOC, persons with disability, and/or LGBTQ + individuals that aligns with educational competencies.

Materials And Methods: Curriculum design by an interdisciplinary team made up of physician educators, medical sociologist, digital collection librarian, and art museum educators. Prospective single arm intervention study at a single site academic teaching hospital.

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Quantum vaccinology: A new science and epistemological abstraction framework for developing new vaccines and understanding the generation of the immune response.

Vaccine

January 2025

Health and Biotechnology (SaBio), Instituto de Investigación en Recursos Cinegéticos, IREC (CSIC, UCLM, JCCM), Ronda de Toledo 12, 13005 Ciudad Real, Spain.; Center for Veterinary Health Sciences, Department of Veterinary Pathobiology, Oklahoma State University, Stillwater, OK, USA.

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Background: HPV infection is implicated in approximately half of global penile squamous cell carcinoma (PSCC) cases. Previous studies on HPV DNA and p16INK4a status in PSCC have yielded inconclusive prognostic findings. This meta-analysis aims to elucidate the prognostic role of HPV in PSCC by pooling data on disease-free survival (DFS), disease-specific survival (DSS), and overall survival (OS).

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Background: The efficacy and safety of P2Y12 inhibitors (P2Y12i) with aspirin in patients with non-cardioembolic ischemic cerebrovascular events remains a topic of ongoing debate. Therefore, we conducted an updated meta-analysis to compare these drugs with aspirin alone.

Methods: We systematically searched PubMed, Embase, and Cochrane Central for randomized controlled trials (RCTs) comparing the two treatment regimens in patients with ischemic cerebrovascular events.

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The development and modification of grouting materials constitute crucial factors influencing the effectiveness of grouting. Given the pivotal role of water in the hydration of cement-based composite materials and construction processes, this study proposes an exploratory approach using green, economical magnetized water technology to enhance the performance of cement grouts. The research systematically investigates the effects of magnetized water on the fundamental grouting properties (stability, rheological behavior, and stone body strength) of cement grouts, prepared under varying magnetization conditions (including magnetic intensity, water flow speed, and cycle times).

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