Publications by authors named "Gruber S"

Prompt confirmation of human immunodeficiency virus (HIV) is critical. We examined 10 years of discordant results without reflex HIV RNA. Of patients with acute HIV infection, 43.

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Structural maintenance of chromosomes (SMC) complexes organize the genome via DNA loop extrusion. Although some SMCs were reported to do so symmetrically, reeling DNA from both sides into the extruded DNA loop simultaneously, others perform loop extrusion asymmetrically toward one direction only. The mechanism underlying this variability remains unclear.

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Importance: Enhanced breast cancer screening with magnetic resonance imaging (MRI) is recommended to women with elevated risk of breast cancer, yet uptake of screening remains unclear after genetic testing.

Objective: To evaluate uptake of MRI after genetic results disclosure and counseling.

Design, Setting, And Participants: This multicenter cohort study was conducted at the University of Southern California Norris Cancer Hospital, the Los Angeles General Medical Center, and the Stanford University Cancer Institute.

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Unlabelled: A polygenic risk score (PRS) is used to quantify the combined disease risk of many genetic variants. For complex human traits there is interest in determining whether the PRS modifies, i.e.

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The relationship between cannabis use and mental health is complex, as studies often report seemingly contradictory findings regarding whether cannabis use results in more positive or negative treatment outcomes. With an increasing number of individuals using cannabis for both recreational (i.e.

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Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.

Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.

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The industrial use of certain insects, such as the black soldier fly (BSF, Hermetia illucens), has become a burgeoning way of converting residual biomass into a valuable source of biomolecules for the feed and food industry. Here, the integration of a valuable step as an upcycling technology using biological waste from the 5th instar BSF larvae processing as a source of bioactive chitosan was explored. The goal is to pave the way for sustainable chitosan production from insect-based resources in addition to proteins, lipids, and fertilizers.

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Multisubunit protein complexes are central to many cellular processes, and studying their activities and structures in vitro requires reconstitution via recombinant expression and purification. Obtaining targets at sufficient purity and scale typically involves screening several protein variants and expression hosts. Existing cloning strategies enable co-expression but are often time-consuming, labor-intensive, and host-specific, or involve error-prone steps.

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Background: Whether blood lipids are causally associated with colorectal cancer (CRC) risk remains unclear.

Methods: Using two-sample Mendelian randomisation (MR), our study examined the associations of genetically-predicted blood concentrations of lipids and lipoproteins (primary: LDL-C, HDL-C, triglycerides, and total cholesterol), and genetically-proxied inhibition of HMGCR, NPC1L1, and PCSK9 (which mimic therapeutic effects of LDL-lowering drugs), with risks of CRC and its subsites. Genetic associations with lipids were obtained from the Global Lipids Genetics Consortium (n = 1,320,016), while genetic associations with CRC were obtained from the largest existing CRC consortium (n = 58,221 cases and 67,694 controls).

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Article Synopsis
  • * A study identified a specific genetic variation at Chr6:31373718C>G that is associated with increased CRC risk, particularly in the younger population, with stronger odds for EOCRC compared to older adults.
  • * Analysis showed that individuals carrying the minor G allele have reduced expression of the immune-related MICA gene and lower levels of Natural Killer (NK) cell infiltration in tumors, suggesting a link between this genetic variation and tumor immune response.
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The ParABS system plays a critical role in bacterial chromosome segregation. The key component of this system, ParB, loads and spreads along DNA to form a local protein-DNA condensate known as a partition complex. As bacterial chromosomes are heavily supercoiled due to the continuous action of RNA polymerases, topoisomerases and nucleoid-associated proteins, it is important to study the impact of DNA supercoiling on the ParB-DNA partition complex formation.

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Background: Distinguishing between unilateral and bilateral primary aldosteronism, a major cause of secondary hypertension, is crucial due to different treatment approaches. While adrenal venous sampling is the gold standard, its invasiveness, limited availability, and often difficult interpretation pose challenges. This study explores the utility of circulating microRNAs (miRNAs) and machine learning in distinguishing between unilateral and bilateral forms of primary aldosteronism.

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Article Synopsis
  • Colorectal cancer (CRC) is a major health concern, and understanding how genetic and environmental factors interact can help identify at-risk groups.
  • This study analyzed data from over 45,000 CRC cases to assess both multiplicative and additive interactions between genetic risk scores and various environmental factors, finding no multiplicative interactions but significant additive ones for high genetic susceptibility individuals.
  • Results suggest that individuals with high genetic risk could benefit more from lifestyle interventions like reducing alcohol intake or increasing fruit and fiber consumption, emphasizing the need for targeted prevention strategies in CRC care.
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Freeze-drying is a commonly employed method in the food industry to extend shelf life of products. However, this process remains time and energy consuming. While higher shelf temperatures accelerate the process, they also pose the risk of product damage.

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A polymorphic variant in the ataxia telangiectasia-mutated (ATM) gene, rs56009889, was recently associated with an increased risk of lung cancer. We studied the role of this variant in the etiology of other cancers. Data from three population-based case-control studies of colon, breast, and lung cancer were used.

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The gentle yet cost-effective drying of sensitive products in the food and pharmaceutical industries is becoming increasingly important. To maintain sensitive ingredients, color, structure, and viability of micro-organisms, often freeze-drying is the only possible way to preserve the product. As many products come in as bulk material, they are dried on heated shelves resulting in poor heat and mass transport through the bed.

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Background: It remains unclear which subset of patients with recurrent patellofemoral instability would benefit from a concomitant bony realignment procedure in addition to a medial patellofemoral ligament (MPFL) reconstruction.

Purpose: To provide midterm results for patients who underwent an isolated MPFL reconstruction as part of an ongoing prospective trial.

Study Design: Case series; Level of evidence, 4.

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Background: Diagnosis of primary aldosteronism (PA) is complicated by the need to withdraw antihypertensive medications that interfere with test results, particularly renin. This study examined whether machine learning-based steroid-probability scores offer a renin measurement-independent approach for testing less prone to interference than the aldosterone-to-renin ratio (ARR).

Methods: This prospective multicenter cohort study involved the use of plasma steroidomics and the ARR in 839 patients tested for PA, including 190 with and 578 without PA (71 indeterminate).

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Background: Cartilage restoration procedures for patellar cartilage defects have produced inconsistent results, and optimal management remains controversial. Particulated juvenile articular cartilage (PJAC) allograft tissue is an increasingly utilized treatment option for chondral defects, with previous studies demonstrating favorable short-term outcomes for patellar chondral defects.

Purpose: To identify whether there is an association between defect fill on magnetic resonance imaging (MRI) with functional outcomes in patients with full-thickness patellar cartilage lesions treated with PJAC.

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Objective: Previous research has demonstrated different cannabis-related outcomes depending on the of cannabis use (i.e., recreational, medical, hybrid of both), underscoring the need to identify variables associated with specific goals of use, particularly in understudied populations.

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Article Synopsis
  • Folate intake plays a crucial role in genetic and metabolic processes, and low levels are linked to higher cancer risk, specifically colorectal cancer (CRC).
  • The study analyzed dietary and supplemental folate intake among participants with CRC, investigating how this intake relates to specific genetic mutations using advanced sequencing techniques.
  • Results indicated that higher total folate intake generally reduced CRC risk, but the impact varied when considering mutation status in tumors, with a few specific gene mutations showing different associations with folate intake.
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Unlabelled: Fungal cell walls are dynamic extracellular matrices that enable efficient adaptation to changing environments. While the cell wall compositions of yeasts, human, and plant pathogenic fungi have been studied to some extent, the cell walls of mycoparasites remain poorly characterized. species comprise a diverse group of soil fungi with different survival strategies and lifestyles.

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The incidence of colorectal cancer (CRC) among individuals younger than age 50 (early-onset CRC [EOCRC]) has substantially increased, and yet the etiology and molecular mechanisms underlying this alarming rise remain unclear. We compared tumor-associated T-cell repertoires between EOCRC and average-onset CRC (AOCRC) to uncover potentially unique immune microenvironment-related features by age of onset. Our discovery cohort included 242 patients who underwent surgical resection at Cleveland Clinic from 2000 to 2020.

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Identifying risk protein targets and their therapeutic drugs is crucial for effective cancer prevention. Here, we conduct integrative and fine-mapping analyses of large genome-wide association studies data for breast, colorectal, lung, ovarian, pancreatic, and prostate cancers, and characterize 710 lead variants independently associated with cancer risk. Through mapping protein quantitative trait loci (pQTL) for these variants using plasma proteomics data from over 75,000 participants, we identify 365 proteins associated with cancer risk.

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The Infinium DNA Methylation BeadChips have significantly contributed to population-scale epigenetics research by enabling epigenome-wide trait association discoveries. Here, we design, describe, and experimentally verify a new iteration of this technology, the Methylation Screening Array (MSA), to focus on human trait screening and discovery. This array utilizes extensive data from previous Infinium platform-based epigenome-wide association studies (EWAS).

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