5,623,217 results match your criteria: "USA; Ann & Robert H. Lurie Children's Hospital of Chicago[Affiliation]"

Large-scale, pan-cancer analysis is enabled by data driven knowledge bases that link tumor molecular profiles with phenotypes. A debilitating cancer-related phenotype is skeletal muscle loss, or cachexia, which occurs partly from tumor products secreted into circulation. Using the LinkedOmicsKB knowledge base assembled from the Clinical Proteomics Tumor Analysis Consortium proteogenomic analysis, along with catalogs of human secretome proteins, ligand-receptor pairs and molecular signatures, we sought to identify candidate pan-cancer proteins secreted to blood that could regulate skeletal muscle phenotypes in multiple solid cancers.

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On the Gaussian modulus of lipid membranes.

Biomech Model Mechanobiol

January 2025

Department of Mechanical and Aerospace Engineering, University of Houston, Houston, TX, 77204, USA.

The Gaussian modulus is a crucial property that influences topological transformations in lipid membranes. However, unlike the bending modulus, estimating the Gaussian modulus has been particularly challenging due to the constraints imposed by the Gauss-Bonnet theorem. Despite this, various theoretical, computational, and experimental approaches have been developed to estimate the Gaussian modulus, though they are often complex, and analytical estimates remain rare.

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This study presents a thorough bibliometric analysis of Neuroinformatics over the past 20 years, offering insights into the journal's evolution at the intersection of neuroscience and computational science. Using advanced tools such as VOS viewer and methodologies like co-citation analysis, bibliographic coupling, and keyword co-occurrence, we examine trends in publication, citation patterns, and the journal's influence. Our analysis reveals enduring research themes like neuroimaging, data sharing, machine learning, and functional connectivity, which form the core of Neuroinformatics.

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Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been shown for spinocerebellar ataxia (SCA), content validity has not been established.

Methods: Individuals with SCA1 or SCA3 (n = 7) and healthcare professionals (HCPs) with SCA expertise (n = 8) participated in qualitative interviews evaluating the relevance, clarity, and clinical meaningfulness of FARS-ADL for assessment of individuals with SCA.

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Phosphoenolpyruvate (PEP) carboxylase (PEPC) has an anaplerotic role in central plant metabolism but also initiates the carbon concentrating mechanism during C photosynthesis. The C PEPC has different binding affinities (K) for PEP (K) and HCO (K), and allosteric regulation by glucose-6-phosphate (G6-P) compared to non-photosynthetic isoforms. These differences are linked to specific changes in amino acids within PEPC.

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Purpose Of Review: The role of the lymphatic system in clearing extravasated fluids, lipid transport, and immune surveillance is well established, and lymphatic vasculature can provide a vital role in facilitating crosstalk among various organ systems. Lymphatic vessels rely on intrinsic and local factors to absorb and propel lymph from the interstitium back to the systemic circulation. The biological implications of local influences on lymphatic vessels are underscored by the exquisite sensitivity of these vessels to environmental stimuli.

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Mutations that increase LRRK2 kinase activity have been linked to Parkinson's disease and Crohn's disease. LRRK2 is also activated by lysosome damage. However, the endogenous cellular mechanisms that control LRRK2 kinase activity are not well understood.

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Classical cell cycle kinase limits tubulin polyglutamylation and cilium stability.

J Cell Biol

February 2025

Department of Molecular and Cell Biology, University of California, Merced, Merced, CA, USA.

Tubulin polyglutamylation is essential for maintaining cilium stability and function, and defective tubulin polyglutamylation is associated with ciliopathies. However, the regulatory mechanism underlying proper axonemal polyglutamylation remains unclear. He et al.

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Burn injuries in patients with significant pre-existing medical conditions provide unique challenges in both medical management and surgical planning. Spasticity, if left untreated, can be one of the most disabling consequences of a neurologic injury. Treatment is largely dependent on pharmacologic management with anti-spasmodic agents such as baclofen.

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A new harmony box supplemented with gonial angle and age based on a growing Swiss population.

J Orofac Orthop

January 2025

Clinic of Orthodontics and Pediatric Dentistry, Center of Dental Medicine, University of Zurich, Plattenstrasse 11, 8032, Zurich, Switzerland.

Purpose: The scope of the present study was to create a new harmony box by adding two diagnostically and clinically important cephalometric variables, the gonial and interincisal angles, while also considering the effect of sex and age for a growing Swiss population.

Methods: A healthy sample with an overjet and overbite between 2 and 4 mm, and 1.5 and 4.

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Cancer is a leading cause of death worldwide and its treatment is hampered by the lack of specificity and side effects of current drugs. Cardiotonic steroids (CTS) interact with Na/K-ATPase (NKA) and induce antineoplastic effects, but their narrow therapeutic window is key limiting factor. The synthesis of digitoxigenin derivatives with glycosidic unit modifications is a promising approach to develop more selective and effective antitumor agents.

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Increasing evidence suggests that carotenoids play an important role in visual and cognitive development during early life. This study aimed to depict the carotenoid profile in maternal/cord plasma and breast milk in three northern cities of China while investigating the association between dietary carotenoid intake and breast milk carotenoid levels. We enrolled 990 lactating mothers from three urban northern Chinese cities to collect breast milk (including colostrum, transitional milk, early mature milk, middle mature milk, and late mature milk).

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Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

J Exp Med

February 2025

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

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Background: Neurologic symptoms seen in patients receiving immune checkpoint inhibitors (ICI) may not be entirely caused by immunotoxicity. We aim to highlight these confounding conditions through clinical cases to encourage early recognition and management.

Methods: We describe a series of seven cases from our institution that were treated with ICI and presented with Neurologic symptoms and were diagnosed with superimposed conditions beyond immunotoxicity.

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Unlabelled: Osteoporosis is often underrecognized and undertreated following periprosthetic fractures (PPF). Our study found that between 2010 and 2020, there has been no significant change in the rates of osteoporosis screening or treatment within 1 year following PPF. Orthopedic surgeons can play an integral role in helping to curtail the osteoporosis epidemic.

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Future Directions for Quantitative Systems Pharmacology.

Handb Exp Pharmacol

January 2025

Genentech Inc, South San Francisco, CA, USA.

In this chapter, we envision the future of Quantitative Systems Pharmacology (QSP) which integrates closely with emerging data and technologies including advanced analytics, novel experimental technologies, and diverse and larger datasets. Machine learning (ML) and Artificial Intelligence (AI) will increasingly help QSP modelers to find, prepare, integrate, and exploit larger and diverse datasets, as well as build, parameterize, and simulate models. We picture QSP models being applied during all stages of drug discovery and development: During the discovery stages, QSP models predict the early human experience of in silico compounds created by generative AI.

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Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in-depth analysis of how NIPT was incorporated into prenatal care in the US, the Netherlands, and Japan-countries with similar economic status-to identify actionable lessons. We conducted an integrative literature review on the process of introducing and implementing NIPT, stakeholders' roles, documented considerations in the decision to introduce NIPT, implementation choices, and NIPT uptake.

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We present the complete chloroplast genome of the eelgrass from Monterey, California. The genome is circular and 144,675  bp in length. It consists of 82 protein-coding, 31 transfer RNA, and 8 ribosomal RNA genes and is 99.

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Current Concepts and Clinical Applications in Cartilage Tissue Engineering.

Tissue Eng Part A

January 2025

Department of Orthopaedics, Massachusetts General Brigham, Boston, MA, USA.

Cartilage injuries are extremely common in the general population, and conventional interventions have failed to produce optimal results. Tissue engineering (TE) technology has been developed to produce neocartilage for use in a variety of cartilage-related conditions. However, progress in the field of cartilage TE has historically been difficult due to the high functional demand and avascular nature of the tissue.

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sp. nov., a bacterium isolated from the roots of the aquatic plant .

Int J Syst Evol Microbiol

January 2025

Department of Biology, Slippery Rock University, Slippery Rock, Pennsylvania 16057, USA.

A polyphasic taxonomic study was carried out on strain T9W2-O, isolated from the roots of the aquatic plant . This isolate is rod-shaped, forms yellow/orange pigmented colonies and produces the pigment flexirubin. Nearly complete 16S rRNA gene sequence homology related the strain to , with 98.

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Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.

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mpactR automates pre-processing of liquid chromatography-tandem mass spectrometry (LC-MS/MS) data from microbiological samples to correct mispicked peaks, resolve inter-sample variation in abundance across technical replicates, account for in-source ion fragmentation, and remove background noise to yield high-quality mass spectrometry features. The package is available through CRAN and GitHub.

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Following injury, skeletal muscle undergoes repair via satellite cell (SC)-mediated myogenic progression. In SCs, the circadian molecular clock gene, Bmal1, is necessary for appropriate myogenic progression and repair with evidence that muscle molecular clocks can also affect force production. Utilizing a mouse model allowing for inducible depletion of Bmal1 within SCs, we determined contractile function, SC myogenic progression and muscle damage and repair following eccentric contractile-induced injury.

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Various large language models (LLMs) can provide human-level medical discussions, but they have not been compared regarding rhinoplasty knowledge. To compare the leading LLMs in answering complex rhinoplasty consultation questions as evaluated by plastic surgeons. Ten open-ended rhinoplasty consultation questions were presented to ChatGPT-4o, Google Gemini, Claude, and Meta-AI LLMs.

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Background: Dosimetric commissioning and quality assurance (QA) for linear accelerators (LINACs) present a significant challenge for clinical physicists due to the high measurement workload and stringent precision standards. This challenge is exacerbated for radiosurgery LINACs because of increased measurement uncertainty and more demanding setup accuracy for small-field beams. Optimizing physicists' effort during beam measurements while ensuring the quality of the measured data is crucial for clinical efficiency and patient safety.

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