220,135 results match your criteria: "FL; and Johns Hopkins University School of Medicine (P.M.R.)[Affiliation]"

A machine learning-based model to predict POD24 in follicular lymphoma: a study by the Chinese workshop on follicular lymphoma.

Biomark Res

January 2025

Department of Hematology, The First Affiliated Hospital of Xiamen University and Institute of Hematology, School of Medicine, Xiamen University, Xiamen, 361003, P.R. China.

Background: Disease progression within 24 months (POD24) significantly impacts overall survival (OS) in patients with follicular lymphoma (FL). This study aimed to develop a robust predictive model, FLIPI-C, using a machine learning approach to identify FL patients at high risk of POD24.

Methods: A cohort of 1,938 FL patients (FL1-3a) from seventeen centers nationwide in China was randomly divided into training and internal validation sets (2:1 ratio).

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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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The health implications of engaging in risk-taking or protective behaviors can have long-lasting effects on an individual's life. In recent years, there has been a growing interest in how religious attitudes and beliefs influence an individual's health behaviors. However, research on the role of the God Locus of Health Control (GLHC) in the religion-health literature is lacking.

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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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ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Nat Genet

January 2025

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

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Vessel strikes are a critical threat to endangered North Atlantic right whales (Eubalaena glacialis), significantly contributing to their elevated mortality. Accurate estimates of these mortality rates are essential for developing effective management strategies to aid in the species' recovery. This study enhances existing vessel strike models by incorporating detailed regional data on vessel traffic characteristics as well as whale distribution and behavior.

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Skillful seasonal climate prediction is critical for food and water security over the world's heavily populated regions, such as in continental East Asia. Current models, however, face significant difficulties in predicting the summer mean rainfall anomaly over continental East Asia, and forecasting rainfall spatiotemporal evolution presents an even greater challenge. Here, we benefit from integrating the spatiotemporal evolution of rainfall to identify the most crucial patterns intrinsic to continental East-Asian rainfall anomalies.

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The opioid epidemic endangers not only public health but also social and economic welfare. Growing clinical evidence indicates that chronic use of prescription opioids may contribute to an elevated risk of ischemic stroke and negatively impact post-stroke recovery. In addition, NLRP3 inflammasome activation has been related to several cerebrovascular diseases, including ischemic stroke.

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Fibrolamellar hepatocellular carcinoma (FL-HCC) is a primary liver tumour presenting at a young age. Aggressive surgery of FL-HCC is the mainstay of management unlike other malignancies where metastatic stage precludes curative surgery. There are limited reports of response of FL-HCC to systemic therapies predominantly owing to its rarity.

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Public health interventions reduce infection risk, while imposing significant costs on both individuals and the society. Interventions can also lead to behavioral changes, as individuals weigh the cost and benefits of avoiding infection. Aggregate epidemiological models typically focus on the population-level consequences of interventions, often not incorporating the mechanisms driving behavioral adaptations associated with interventions compliance.

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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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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Am J Hum Genet

January 2025

Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

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Photodynamic antimicrobial therapy with Erythrosin B, Eosin Y, and Rose Bengal for the inhibition of fungal keratitis isolates: An in vitro study.

J Photochem Photobiol B

December 2024

Anne Bates Leach Eye Center, Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, FL, United States of America; Ocular Microbiology Laboratory, Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, FL, United States of America.

Introduction: Fungal keratitis is a leading cause of corneal blindness, with current antifungal treatments having limited efficacy. One promising treatment modality is Rose Bengal (RB) photodynamic antimicrobial therapy (PDAT) that has shown mixed success against fungal keratitis. Therefore, there is a need to explore the antimicrobial efficacy of other green-light activated photosensitizers that have deep penetration in the cornea to combat the deep fungal infections, such as Erythrosin B (EB) and Eosin Y (EY).

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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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Metabolic engineering of Priestia megaterium for 2'-fucosyllactose production.

Microb Cell Fact

January 2025

Department of Chemical & Biological Engineering, Korea University, Seoul, 136-763, Korea.

Background: 2'-Fucosyllactose (2'-FL) is a predominant human milk oligosaccharide that significantly enhances infant nutrition and immune health. This study addresses the need for a safe and economical production of 2'-FL by employing Generally Recognized As Safe (GRAS) microbial strain, Priestia megaterium ATCC 14581. This strain was chosen for its robust growth and established safety profile and attributing suitable for industrial-scale production.

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Study Design: Experimental Animal Study.

Objective: To continue validating an antibody which targets an epitope of neurofilament light chain (NF-L) only available during neurodegeneration and to utilize the antibody to describe the pattern of axonal degeneration 10 days post-unilateral C4 contusion in the rat.

Setting: University of Florida laboratory in Gainesville, USA.

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The highly allo-autopolyploid modern sugarcane genome and very recent allopolyploidization in Saccharum.

Nat Genet

January 2025

Center for Genomics, Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Haixia Institute of Science and Technology, Fujian Agriculture and Forestry University, Fuzhou, China.

Modern sugarcane, a highly allo-autopolyploid organism, has a very complex genome. In the present study, the karyotype and genome architecture of modern sugarcane were investigated, resulting in a genome assembly of 97 chromosomes (8.84 Gb).

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Treatment advances across the cervical cancer spectrum.

Nat Rev Clin Oncol

January 2025

Department of Obstetrics and Gynecology, University of California, Irvine, Irvine, CA, USA.

Cervical cancer is preventable with screening and vaccination approaches; however, access to these preventative measures is limited both nationally and globally and thus many women will still develop cervical cancer. Novel treatments and practice-changing research have improved cervical cancer outcomes over the past few decades. In this Review, we discuss clinical trials that have refined or redefined the treatment of cervical cancers across the early stage, locally advanced, persistent, recurrent and/or metastatic disease settings.

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Thyroid surgery under nerve auto-fluorescence & artificial intelligence tissue identification software guidance.

Langenbecks Arch Surg

January 2025

Department of General Surgery, Sanatorio Otamendi & Miroli (Otamendi & Miroli Hospital), University of Buenos Aires, Buenos Aires, Argentina.

Thyroid cancer is a common malignancy that requires comprehensive clinical evaluation prior to adequate surgical management. Over the last three decades thyroid surgery has tripled and is considered one of the most commonly performed procedures in general surgery. These procedures are associated with potential postoperative complications with significant deterioration in the patient's quality of life.

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Spatially resolved omics (SRO) technologies enable the identification of cell types while preserving their organization within tissues. Application of such technologies offers the opportunity to delineate cell-type spatial relationships, particularly across different length scales, and enhance our understanding of tissue organization and function. To quantify such multi-scale cell-type spatial relationships, we present CRAWDAD, Cell-type Relationship Analysis Workflow Done Across Distances, as an open-source R package.

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Current management of nonmelanoma skin cancers.

Curr Probl Surg

January 2025

Department of Cutaneous Oncology, Department of Oncologic Sciences, Moffitt Cancer Center, University of South Florida, Morsani College of Medicine, Tampa, FL. Electronic address:

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Molecular aspects of cytoprotection by Optineurin during stress and disease.

Biochim Biophys Acta Mol Cell Res

January 2025

CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500007, India; Florida Research and Innovation Center, Cleveland Clinic, Port Saint Lucie, FL 34987, USA. Electronic address:

Optineurin/OPTN is an adapter protein that plays a crucial role in mediating many cellular functions, including autophagy, vesicle trafficking, and various signalling pathways. Mutations of OPTN are linked with neurodegenerative disorders, glaucoma, and amyotrophic lateral sclerosis (ALS). Recent work has shown that OPTN provides cytoprotection from many types of stress, including oxidative stress, endoplasmic reticulum stress, protein homeostasis stress, tumour necrosis factor α, and microbial infection.

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Sepsis is a state of systemic immune dysregulation and organ failure that is frequently associated with severe brain disability. Epidemiological studies have indicated that younger females have better prognosis and clinical outcomes relative to males, though the sex-dependent response of the brain to sepsis during post-sepsis recovery remains largely uncharacterized. Using a modified polymicrobial intra-abdominal murine model of surgical sepsis, we characterized the acute effects of intra-abdominal sepsis on peripheral inflammation, brain inflammation and brain functional connectivity in young adult mice of both sexes.

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Tobacco use disorder is a chronic disorder that affects more than one billion people worldwide and causes the death of millions each year. The rewarding properties of nicotine are critical for the initiation of smoking. Previous research has shown that the activation of glucocorticoid receptors (GRs) plays a role in nicotine self-administration in rats.

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