39 results match your criteria: "P.C.G.); and University of Texas Health Science Center[Affiliation]"

A diet high in added sugars has been linked to poor diet quality; however, little is known about specific sources of added sugars and their association with diet quality. This study examined associations between added sugars intake from specific food and beverage sources and diet quality, as indicated by the Healthy Eating Index (HEI) 2020 score, among the U.S.

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Transcatheter Interventions in Adults With Fontan Palliation.

Circ Cardiovasc Interv

December 2024

Toronto Adult Congenital Heart Disease Program, Peter Munk Cardiac Centre (R.A.-G., M.O., L.B., E.H.), University Health Network, ON, Canada.

The Fontan circuit is associated with chronically elevated systemic venous pressures and decreased cardiac output, often leading to circuit failure. Managing Fontan circuit failure is complex and requires multiple therapeutic options. Transcatheter interventions have emerged as a reliable approach.

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This review, conducted by the Andalusian Epilepsy Society, provides an update on recent advances in the treatment of drug-resistant epilepsy, focusing on three new anti-seizure drugs: cenobamate, fenfluramine and cannabidiol. These emerging drugs offer new therapeutic alternatives for patients with drug-resistant focal epilepsy, Dravet syndrome, and Lennox-Gastaut syndrome. The primary objective of this review is to provide healthcare professionals with an up-to-date overview of the efficacy, safety and potential clinical applications of these treatments, backed by the latest evidence.

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Effect of Intravenous Mannitol on Intraocular Pressure Changes in Vitrectomized and Non-Vitrectomized Eyes: A Systematic Review and Meta-Analysis.

Am J Ophthalmol

December 2024

Center for Global Health Research, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University (P.S.), Chennai, Tamil Nadu, India; Medical Laboratories Techniques Department, AL-Mustaqbal University (P.S.), Hillah, Babil, Iraq.

Purpose: Intraocular pressure (IOP) control is paramount during ophthalmic surgeries to ensure successful outcomes and prevent complications. Intravenous mannitol has been explored for its ability to manage IOP fluctuations in both vitrectomized and non-vitrectomized eyes. This meta-analysis aimed to assess the efficacy of mannitol in controlling IOP across these patient groups.

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Digital outcome measures are associated with brain atrophy in patients with multiple sclerosis.

J Neurol

September 2024

MS Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC Location VUmc Polikliniek Neurologie, Attn. MS Center Amsterdam, P. O. Box 7057, 1007 MB, Amsterdam, The Netherlands.

Background: Digital monitoring of people with multiple sclerosis (PwMS) using smartphone-based monitoring tools is a promising method to assess disease activity and progression.

Objective: To study cross-sectional and longitudinal associations between active and passive digital monitoring parameters and MRI volume measures in PwMS.

Methods: In this prospective study, 92 PwMS were included.

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Impact of genome build on RNA-seq interpretation and diagnostics.

Am J Hum Genet

July 2024

Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. Electronic address:

Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and disease diagnosis. Prior studies have demonstrated that choice of genome build impacts variant interpretation and diagnostic yield for genomic analyses. To identify the extent genome build also impacts transcriptomics analyses, we studied the effect of the hg19, hg38, and CHM13 genome builds on expression quantification and outlier detection in 386 rare disease and familial control samples from both the Undiagnosed Diseases Network and Genomics Research to Elucidate the Genetics of Rare Disease Consortium.

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Article Synopsis
  • Transcriptomics is crucial for understanding the effects of genetic variants and diagnosing diseases, but the choice of genome build significantly affects these analyses.
  • In a study involving 386 rare disease and control samples, researchers found 2,800 genes showed different expression levels depending on whether they used hg19, hg38, or CHM13 genome builds.
  • The findings highlight the necessity of cross-referencing transcriptomic analyses with genome build data to improve diagnostic accuracy and robustness.
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Charting the Chronology of Research on Added Sugars: A Scoping Review and Evidence Map.

Nutrients

November 2023

Sugar Association Inc., 1310 L Street, NW, Suite 400, Washington, DC 20005, USA.

The objective of this study was to conduct a scoping review and produce a publicly available database characterizing the design and reporting elements of the literature on dietary added sugars and select health outcomes. Relevant studies published from 1990 to 2021 were identified to create a database containing information on study and population characteristics, reported added sugars source and concentrations, dietary energy balance, total energy intake, and outcome measures related to body composition, obesity, cardiovascular disease, and diabetes mellitus. There were 245 publications identified, 22% of which describe interventions, and 78% describe observational studies.

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The Dietary Guidelines for Americans recommend adults increase their intake of nutrients that are under-consumed while limiting their intake of added sugars, sodium, and saturated fats. The purpose of this study was to examine the relationship between added sugars intake from specific types of beverages with added sugars (soft drinks, fruit drinks, sports and energy drinks, coffee and tea, and flavored milk) and nutrient adequacy among US adults (19+ y). Data from eight consecutive 2-y cycles of NHANES were combined (2003-2004 through 2017-2018), and regression analysis was conducted to test for trends in quantiles of added sugars intake from each beverage source and the rest of the diet (excluding those beverages) and nutrient adequacy.

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Cenobamate and Clobazam Combination as Personalized Medicine in Autoimmune-Associated Epilepsy With Anti-Gad65 Antibodies.

Neurol Neuroimmunol Neuroinflamm

November 2023

From the Epilepsy Unit, Regional University Hospital of Málaga (P.J.S.-C., P.C.-G., G.G.-M., Y.L.-M); Institute for Biomedical Research of Málaga (IBIMA-Plataforma Bionand), Málaga (P.J.S.-C., P.C.-G., G.G.-M., N.L.C.-P., B.O., G.E.-T., J.O.-P., T.R.-G., L.S.-G.); Andalusian Network for Clinical and Translational Research in Neurology (Neuro-RECA), Spain (P.J.S.-C., J.J.R.-U., P.C.-G., G.G.-M., B.O.) University of Málaga (P.J.S.-C., B.O.); Vithas Hospital of Málaga, Spain (P.J.S.-C., P.C.-G.); Epilepsy Unit, Center for Avanced Neurology of Seville (J.J.R.-U.); Epilepsy Unit, Virgen de la Victoria University Hospital of Málaga (J.R.-G.), Biotechnology Unit, Regional University Hospital of Málaga (M.J.A.-C., L.S.-G.); Nuclear Medicina Unit, Regional University Hospital of Málaga (A.L.G.-C.); Epilepsy Unit, Clinic Hospital of Barcelona (M.C.), August Pi i Sunyer Biomedical Research Institute, Barcelona (M.C.), European Reference Network for Rare and Complex Epilepsies (EPICARE) (M.C.), Spain.

Background And Objectives: Autoimmune-associated epilepsy (AAE) with antiglutamic acid decarboxylase 65 (GAD65) antibodies is considered a T-cell-mediated encephalitis that evolves to drug-resistant epilepsy. We do not have an effective therapeutic strategy for these patients. Because the GAD enzyme is primarily responsible for the conversion of glutamate to GABA, the mechanism of epileptogenesis in this condition predicts decreased levels of GABA content in synaptic vesicles.

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Added sugars intake from sweetened beverages among children, adolescents, and teens is a public health concern. This study examined the relationships between added sugars intake from specific types of beverages with added sugars and from the rest of the diet (excluding beverages with added sugars) and micronutrient adequacy among US children, adolescents, and teens. Data from eight consecutive 2 y cycles of NHANES were combined (2003-04 through 2017-18), and regression analysis was conducted to test for trends in quantiles of added sugars intake from each beverage source (soft drinks, fruit drinks, sport and energy drinks, coffee and tea, and flavored milk) and the rest of the diet (excluding those beverages) and micronutrient adequacy among children (2-8 y) and adolescents and teens (9-18 y).

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Article Synopsis
  • Left atrial appendage closure offers an alternative to long-term anticoagulants for preventing strokes in patients with nonvalvular atrial fibrillation.
  • Post-implantation, patients need antithrombotic treatment to avoid serious complications linked to the device, but the best treatment strategy for minimizing both blood clots and bleeding risks is still unclear.
  • The review assesses various antithrombotic treatments used over the past decade after left atrial appendage closure to help guide physician decisions and outline future research directions.
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Article Synopsis
  • The study investigates how immunomodulator comedication can help reverse loss of therapeutic response (LOR) to TNF inhibitors in patients with inflammatory bowel disease (IBD) who have developed anti-drug antibodies (ADA).
  • Out of 123 IBD patients analyzed, those who received immunomodulator comedication showed significantly better outcomes in regaining clinical remission and clearing ADA compared to those who only had their TNF inhibitor doses increased.
  • The findings suggest that adding immunomodulators like azathioprine or methotrexate significantly improves the chances of maintaining effective treatment in IBD patients experiencing LOR due to ADA.
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IARC Perspective on Oral Cancer Prevention.

N Engl J Med

November 2022

From the International Agency for Research on Cancer (V.B., S.T.N., D.S., R.S., B.L.-S.), and INSERM 1052, Centre National de la Recherche Scientifique 5286, Centre de Recherche en Cancérologie de Lyon, Université Claude Bernard Lyon 1, and the Department of Medical Oncology, Centre Léon Bérard (P.S.) - all in Lyon, France; the Collaborating Centre for Oral Cancer of the World Health Organization (WHO) (S.W.) and the Faculty of Dentistry, Oral, and Craniofacial Sciences (N.W.J.), King's College London, London, the University of Sheffield School of Health and Related Research, Sheffield (O.M.), and the School of Medicine, Dentistry, and Nursing, University of Glasgow, Glasgow (D.I.C.) - all in the United Kingdom; Center for Health, Innovation, and Policy Foundation and Rollins School of Public Health, Emory University, Atlanta (R.M.); the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD (A.K.C.); the Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei (T.H.-H.C.); Sefako Makgatho Health Sciences University, Ga-Rankuwa, and the School of Health Systems and Public Health, University of Pretoria, Pretoria - both in South Africa (O.A.A.-Y.); Healis Sekhsaria Institute for Public Health (P.C.G.) and Preventive Oncology, Karkinos Healthcare (R.S.), Navi Mumbai, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram (D.A.), Regional Cancer Centre, Trivandrum (K.R.), and the School of Preventive Oncology, Patna (D.N.S.) - all in India; New York University College of Dentistry, New York (A.R.K.); University of Peradeniya, Peradeniya, Sri Lanka (W.M.T.); the Faculty of Dentistry, University of Malaya, Kuala Lumpur (W.M.T., R.B.Z.), and MAHSA (Malaysian Allied Health Sciences Academy) University, Bandar Saujana Putra (R.B.Z.) - both in Malaysia; M.D. Anderson Cancer Center, Houston (A.G.); Griffith University Gold Coast, Southport, QLD, Australia (N.W.J.); University of São Paulo Medical School and A.C. Camargo Cancer Center (L.P.K.), São Paulo, and Piracicaba Dental School, University of Campinas, Campinas (A.R.S.-S.) - all in Brazil; the Department of Maxillofacial Surgery, School of Dentistry, Aichi Gakuin University, Nisshin, Japan (T.N.); WHO, Geneva (V.M.P., F.R.); and the Department of Otorhinolaryngology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand (P.V.).

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MPS1 inhibition primes immunogenicity of KRAS-LKB1 mutant lung cancer.

Cancer Cell

October 2022

Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA LC4115, USA. Electronic address:

KRAS-LKB1 (KL) mutant lung cancers silence STING owing to intrinsic mitochondrial dysfunction, resulting in T cell exclusion and resistance to programmed cell death (ligand) 1 (PD-[L]1) blockade. Here we discover that KL cells also minimize intracellular accumulation of 2'3'-cyclic GMP-AMP (2'3'-cGAMP) to further avoid downstream STING and STAT1 activation. An unbiased screen to co-opt this vulnerability reveals that transient MPS1 inhibition (MPS1i) potently re-engages this pathway in KL cells via micronuclei generation.

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Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.

N Engl J Med

June 2022

From the Division of Hematology, Oncology, Stem Cell Transplantation, and Regenerative Medicine (A.B., K.W., R.P., K.M.K., G.B., R.A., P.F.S., A.J.S., M.G.R.), the Center for Definitive and Curative Medicine (A.B., K.W., R.P., K.M.K., G.B., R.A., P.F.S., A.J.S., M.G.R.), and the Divisions of Nephrology (P.C.G., W.C.) and Allergy, Immunology, and Rheumatology (E.L., G.D., V.R., J.M.S., D.B.L.), Department of Pediatrics, and the Departments of Surgery (A.G., W.C.) and Pediatrics (W.C.), Stanford University School of Medicine, and Department of Pharmacy (S.G.G.), Stanford Children's Health - both in Stanford, CA; the Divisions of Pediatric Nephrology (S.F.-S.) and Pediatric Allergy and Immunology (T.P.A.), Department of Pediatrics, University of Alabama, Birmingham; the Division of Nephrology, Department of Pediatrics, Oregon Health Sciences University, Portland (A. A.-U.); the Terry Fox Laboratory, BC Cancer Agency, Vancouver, Canada (G.A.); and the Department of Clinical Pharmacy, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands (K.E.).

Lifelong immunosuppression is required for allograft survival after kidney transplantation but may not ultimately prevent allograft loss resulting from chronic rejection. We developed an approach that attempts to abrogate immune rejection and the need for post-transplantation immunosuppression in three patients with Schimke immuno-osseous dysplasia who had both T-cell immunodeficiency and renal failure. Each patient received sequential transplants of αβ T-cell-depleted and CD19 B-cell-depleted haploidentical hematopoietic stem cells and a kidney from the same donor.

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Background: The Arm Function in Multiple Sclerosis Questionnaire (AMSQ) is the first validated disease specific patient-reported outcome measure (PROM) designed to assess upper extremity function in patients with multiple sclerosis (MS).

Objective: To determine correlations between the AMSQ and established physician- and performance based outcome measures.

Methods: In a cross-sectional cohort of 533 patients correlations between the AMSQ and the Expanded Disability Status Scale (EDSS), its functional systems, the 9-Hole Peg Test (9-HPT) and the Timed-25 Foot Walk (T25FW) were determined.

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Case 2-2022: A 70-Year-Old Man with a Recurrent Left Pleural Effusion.

N Engl J Med

January 2022

From the Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD (P.C.G.); and the Departments of Medicine (C.A.P.), Radiology (V.V.D.), and Pathology (J.A.F.), Massachusetts General Hospital, and the Departments of Medicine (C.A.P.), Radiology (V.V.D.), and Pathology (J.A.F.), Harvard Medical School - both in Boston.

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Recording brain responses to TMS of primary motor cortex by EEG - utility of an optimized sham procedure.

Neuroimage

December 2021

Department of Neurology & Stroke, University of Tübingen, Hoppe-Seyler-Straße 3, Tübingen 72076, Germany; Hertie Institute for Clinical Brain Research, University of Tübingen, Germany. Electronic address:

Introduction: Electroencephalography (EEG) is increasingly used to investigate brain responses to transcranial magnetic stimulation (TMS). A relevant issue is that TMS is associated with considerable auditory and somatosensory stimulation, causing peripherally evoked potentials (PEPs) in the EEG, which contaminate the direct cortical responses to TMS (TEPs). All previous attempts to control for PEPs suffer from significant limitations.

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Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med

December 2020

From the National Human Genome Research Institute (D.B.B., A.K.O., W.P., N.B., D.L.R., D.O.C., K.M., P.H., S.R., L.X., H.O., M.N., A.J., R.S.L., N.D., J.J.C., M.C.V.M., D.N., B.D.S., W.A.G., S.M.B., I.A., D.L.K.), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (M.A.F., K.A.S., S.N., W.L.T., S.G., C.C.-R., W.G., E.R., K.V.W., G.W., S.B., S.D., Z.D., R.A.C., M.J.K., M.G., P.C.G.), the National Institute of Dental and Craniofacial Research (J.C.C., A.J.A., A.W.), the Undiagnosed Diseases Program, Common Fund, Office of the Director (N.B., D.L.R., M.C.V.M., D.N., W.A.G.), the Hematology Branch, National Heart, Lung, and Blood Institute (Z.W., B.P., E.M.G., F.G.-R., L.W.D., C.S.H., N.S.Y.), the National Institute of Allergy and Infectious Diseases (K.S.B.), the Laboratory of Pathology, Center for Cancer Research, National Cancer Institute (C.-C.R.L.), the National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.M.), the Department of Laboratory Medicine (W.W., M.T., A.D.-F., K.R.C.), and the National Eye Institute (M.A.-A.), NIH, Bethesda, and GeneDx, Gaithersburg (K.R.) - both in Maryland; and the National Amyloidosis Centre, Royal Free Hospital London NHS Foundation Trust and University College London, London (D.R., H.J.L.), and the National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds (S.S.) - both in the United Kingdom.

Article Synopsis
  • Adult-onset inflammatory syndromes can exhibit overlapping symptoms, and the study discovered that mutations in ubiquitin-related genes, particularly in UBA1, are linked to these disorders.
  • Researchers utilized various methodologies, including exome sequencing and CRISPR technology, to identify mutations in patients with severe inflammatory conditions that typically develop in late adulthood.
  • The findings indicate that these mutations lead to a significant change in immune response and could help define a new inflammatory disorder related to genetic abnormalities in UBA1.
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Different methods for determining the effect of added sugars intake among children and adults on meeting recommended nutrient intakes were compared using 24 h dietary recall data from the National Health and Nutrition Examination Survey (NHANES) 2011-2014. Four methods were used to determine deciles of added sugars intake (as the percentage of total calories): 1 day intake, 2 day average intake, and individual usual intake (UI) determined with the National Cancer Institute (NCI) and the multivariate Markov Chain Monte Carlo methods. Percentages of the population below the Estimated Average Requirement (EAR) for calcium and vitamin D/above the Adequate Intake (AI) for potassium and dietary fiber for each decile of added sugars intake were assessed with the NCI method.

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Incidence and case fatality rate of COVID-19 in patients with active epilepsy.

Neurology

September 2020

From Instituto de Investigación Biomédica de Málaga (IBIMA) (P.C.-G., N.L.C.-P., N.M.-V., G.P.-P., M.V.C.-S., P.J.S.-C.); and Servicio de Neurología, Unidad de Gestión Clínica de Neurociencias (P.C.-G., N.L.C.-P., G.P.-P., M.V.C.-S., P.J.S.-C.), and Unidad de Gestión Clínica de Reumatología (N.M.-V.), Hospital Regional Universitario de Málaga, Spain.

Objective: This article estimates the incidence and fatality of coronavirus disease 2019 (COVID-19) and identifies potential risk factors for fatality in patients with active epilepsy.

Methods: This is a cross-sectional observational study of patients with active epilepsy and COVID-19. A control group was used to compare the cumulative incidence and case-fatality rate (CFR).

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Background: To quantify the association between effects of interventions on carotid intima-media thickness (cIMT) progression and their effects on cardiovascular disease (CVD) risk.

Methods: We systematically collated data from randomized, controlled trials. cIMT was assessed as the mean value at the common-carotid-artery; if unavailable, the maximum value at the common-carotid-artery or other cIMT measures were used.

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There is inconsistent evidence regarding the impact of added sugars consumption on micronutrient dilution of the diet. We examined the associations between added sugars intake deciles and nutrient adequacy for 17 micronutrients in U.S.

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