1,187 results match your criteria: "Germany M.E.; Berlin Institute of Health[Affiliation]"

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Am J Hum Genet

September 2024

Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. Electronic address:

Article Synopsis
  • The ENIGMA research consortium focuses on determining the clinical significance of variants in hereditary breast and ovarian cancer genes, specifically BRCA1 and BRCA2, and evolved from an external expert panel to an internal Variant Curation Expert Panel (VCEP) to enhance alignment with FDA recognized classification processes.
  • The VCEP reviewed existing classification criteria and utilized statistical methods to assess evidence strength, testing new specifications on variants and updating documentation for better user clarity.
  • Analysis led to refined classifications for variants—resolving uncertainties and maintaining confidence in others—while revealing gaps in both ENIGMA's research and ACMG/AMP criteria, ultimately improving the classification process for BRCA1 and BRCA2 variants.
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Update on PI-RADS Version 2.1 Diagnostic Performance Benchmarks for Prostate MRI: Systematic Review and Meta-Analysis.

Radiology

August 2024

From the Department of Radiology (B.O., A.N., H.E., F.B., M.B.), Institute for Evidence in Medicine (C.S., T.B.), Institute of Medical Biometry and Statistics (G.S.), Department of Urology (A.S., C.G.), and Berta-Ottenstein-Programme (A.S), Faculty of Medicine, University of Freiburg Medical Center, Freiburg, Germany; Department of Radiology & Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands (I.G.S); and Department of Diagnostic and Interventional Radiology, Medical Faculty OWL, University of Bielefeld, Klinikum Lippe, Röntgenstrasse 18, 32756 Detmold, Germany (M.E., M.B.).

Background Prostate MRI for the detection of clinically significant prostate cancer (csPCa) is standardized by the Prostate Imaging Reporting and Data System (PI-RADS), currently in version 2.1. A systematic review and meta-analysis infrastructure with a 12-month update cycle was established to evaluate the diagnostic performance of PI-RADS over time.

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Fasting in Science and Clinics: A Report on Proceedings from the International Scientific Symposium and Conference on Fasting in Berlin (June 2023).

Complement Med Res

October 2024

Charité Competence Center for Traditional and Integrative Medicine (CCCTIM), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

Background: A fasting conference and scientific symposium on fasting were held in Berlin in June 2023. Researchers and clinicians from around the world shared new findings, clinical insights, and work in progress during a 3-day program.

Summary: Different fasting regimens, including prolonged, short-term, intermittent fasting, and time-restricted eating were discussed for preventive and therapeutic settings.

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Background: Subsurface microorganisms contribute to important ecosystem services, yet little is known about how the composition of these communities is affected by small scale heterogeneity such as in preferential flow paths including biopores and fractures. This study aimed to provide a more complete characterization of microbial communities from preferential flow paths and matrix sediments of a clayey till to a depth of 400 cm by using 16S rRNA gene and fungal ITS2 amplicon sequencing of environmental DNA. Moreover, shotgun metagenomics was applied to samples from fractures located 150 cm below ground surface (bgs) to investigate the bacterial genomic adaptations resulting from fluctuating exposure to nutrients, oxygen and water.

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Background: Childhood trauma is a major risk factor for chronic depression. It has been suggested that adults with chronic depression who have experienced childhood trauma may require long-term treatment owing to a breakdown of basic trust and related difficulties in developing a productive therapeutic relationship.

Aims: As empirical studies have been preliminary and scarce, we studied the effects of psychoanalytic therapy (PAT) versus cognitive-behavioural therapy (CBT) for chronic depression in adults with a history of childhood trauma.

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Nipocalimab in Early-Onset Severe Hemolytic Disease of the Fetus and Newborn.

N Engl J Med

August 2024

From Dell Medical School, University of Texas at Austin, and the Comprehensive Fetal Care Center, Dell Children's Medical Center - both in Austin (K.J.M.); Janssen Pharmaceuticals, Cambridge, MA (L.E.L., J.H.L., A.M., V.S., L.B.S., M.L.T., S.S.-K., Y.K.); the Departments of Obstetrics (D.O., E.J.T.J.V.) and Pediatrics (E.L.), Leiden University Medical Center, Leiden, the Netherlands; the Clinical Epidemiology Division, Department of Medicine Solna, Karolinska Institutet, Stockholm (E.T.); the Feto-Maternal Unit, Liverpool Hospital, Liverpool, NSW, Australia (J.S.); the Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University (U.J.S., G.B.), and the Department of Thrombosis and Hemostasis, Giessen University Hospital (U.J.S.) - both in Giessen, Germany; the University of Birmingham and the Fetal Medicine Center, Birmingham Women's and Children's NHS Foundation Trust, Birmingham (M.D.K.), and University College London Hospitals NHS Foundation Trust, London (P.P.) - all in the United Kingdom; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center (R.S.M.), the Department of Pediatrics, Division of Hematology-Oncology, Weill Cornell Medical College (J.B.B.), and NewYork-Presbyterian Hospital (J.B.B.) - all in New York; the Department of Obstetrics and Gynecology, University Hospitals KU Leuven, Leuven, and the Department of Obstetrics, Gynecology, and Fertility, GZA Campus Sint-Augustinus, Wilrijk - both in Belgium (R.D.); Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal (F.A.), and Mount Sinai Hospital Toronto and University of Toronto, Toronto (R.W.) - both in Canada; UPMC Magee-Womens Hospital, Pittsburgh (S.P.E.); the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Cincinnati Medical Center, Cincinnati (K.M.); the Department of Obstetrics and Gynecology, University of California, San Francisco, and Zuckerberg San Francisco General Hospital - both in San Francisco (M.E.N.); San Cecilio University Hospital, Granada, Spain (O.O.-H.); the Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland (L.P.); University of Utah Health, Salt Lake City (R.M.S.); and Streisand Biomedical Consulting, Wayland, MA (J.B.S.).

Background: In early-onset severe hemolytic disease of the fetus and newborn (HDFN), transplacental transfer of maternal antierythrocyte IgG alloantibodies causes fetal anemia that leads to the use of high-risk intrauterine transfusions in order to avoid fetal hydrops and fetal death. Nipocalimab, an anti-neonatal Fc receptor blocker, inhibits transplacental IgG transfer and lowers maternal IgG levels.

Methods: In an international, open-label, single-group, phase 2 study, we assessed treatment with intravenous nipocalimab (30 or 45 mg per kilogram of body weight per week) administered from 14 to 35 weeks' gestation in participants with pregnancies at high risk for recurrent early-onset severe HDFN.

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Assessment of Thrombectomy versus Combined Thrombolysis and Thrombectomy in Patients with Acute Ischemic Stroke and Medium Vessel Occlusion.

Radiology

August 2024

From the Neuroendovascular Program, Massachusetts General Hospital & Brigham and Women's Hospital, Harvard University, Boston, Mass (A.A.D., R.W.R., C.J.S., J.D.R., A.B.P.); Departments of Medical Imaging and Neurosurgery, Neurovascular Centre, St. Michael's Hospital, Toronto, ON, Canada M5B 1W8 (A.A.D., N.M.C., T.R.M., V.M.P.); Departments of Neurologic Surgery & Radiology, Mayo Clinic, Rochester, Minn (S.G., H.K., R.K.); Cooper Neurologic Institute, Cooper University Hospital, Cooper Medical School of Rowen University, Camden, NJ (J.E.S., H.S., J.K., A.J.T., A.G.); Departments of Radiology & Neurology, Boston Medical Center, Boston, Mass (M.A., P. Klein, T.N.N.); Department of Interventional Neuroradiology, Stanford Medical Center, Palo Alto, Calif (J.J.H.); Department of Neurosurgery, Thomas Jefferson University, Philadelphia, Pa (K.E.N., A.A., S.I.T., P.J.); Department of Neurosurgery and Interventional Neuroradiology, Louisiana State University, Shreveport, La (H.A.S., B.M., N.A., H.H.C.S.); Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (L.M., J.F. T.D.F.); Department of Neurology, Hôpital Civil Marie Curie, Charleroi, Belgium (A.D., F.B.); Department of Neuroradiology, University Hospital of Limoges, Université de Limoges, Limoges, France (G.F., A.R., S. Saleme, C.M.); Department of Radiology, Division of Neurointerventional Radiology, University of Massachusetts Medical Center, Worcester, Mass (A.L.K., A.S.P.); Department of Neuroradiology, Sana Kliniken, Lübeck GmbH, Lübeck, Germany (C.D.); Department of Neurosurgery, University of Texas Medical Branch, Galveston, Tex (P.T.K., M.C.); Department of Interventional Neuroradiology, Bordeaux University Hospital, Bordeaux, France (G.M., J.B., X.B.); Department of Neurology, Bordeaux University Hospital, Bordeaux, France (I.S.); Department of Neurology, University of Massachusetts Chan Medical School, Worcester, Mass (S.N., N.H.); Department of Psychiatry, University of Massachusetts Chan Medical School, Worcester, Mass (N.H.); Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Mass (N.H.); Department of Neurosurgery, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan (T.O., S.D.); Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore (L.L.L.Y., B.Y.Q.T.); Department of Medicine, Division of Neurology, National University Hospital, Singapore (B.Y.Q.T.); Department of Neurology, UTHealth McGovern Medical School, Houston, Tex (J.C.M.G., S.S.M.); Interventistica Neurovascolare, Ospedale Careggi di Firenze, Florence, Italy (S. Sheth, L.R., C.C.); Department of Neurologic Surgery, Division of Stroke and Endovascular Neurosurgery, Keck School of Medicine, University of Southern California, Los Angeles, Calif (A.M.); Department of Endovascular Neurosurgery and Neuroradiology, Rutgers University New Jersey Medical School in Newark, Newark, NJ (P. Khandelwal); Department of Neurosurgery, Westchester Medical Center at New York Medical College, Valhalla, NY (A.B.); Department of Neuroradiology, Pitié-Salpêtrière Hospital, GRC BioFast, Sorbonne University, Paris, France (F.C., M.E., K.P.); Neurology Department, Faculty of Medicine, Tanta University, Egypt (M.E.); UOSA Neuroradiologia Interventistica, Fondazione Policlinico Universitario A.Gemelli IRCCS, Rome, Italy (I.V., A.P., A.M.A.); Department of Diagnostic and Interventional Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal (J.P.F.); Department of Neurology, Centro Hospitalar Universitário do Porto, Porto, Portugal (R.V.); Department of Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, Calif (M.Q.C., N.R.G.); Department of Vascular and Interventional Neuroradiology, Universitätsklinikum Heidelberg, Heidelberg, Germany (M.A.M., J.J., C.W.); Department of Neuroradiology, Gui de Chauliac Hospital, Montpellier University Medical Center, Montpellier, France (V.C., R.A.R.); Department of Neurology, Gui de Chauliac Hospital, Montpellier University Medical Center, Montpellier, France (A.t.S.); Department of Radiology, Division of Neuroradiology, Johns Hopkins Medical Center, Baltimore, Md (V.Y.); Department of Neurology, University of Cincinnati Medical Center, Cincinnati, Ohio (P.H., L.M.C., Y.A.); Department of Interventional Neuroradiology, Nancy University Hospital, Nancy, France (B.G.); INSERM U1254, IADI, Université de Lorraine, Nancy, France (B.G.); Department of Radiology, Section of Interventional Neuroradiology, University Medical Center Münster, Münster, Germany (C.P.S.); Departments of Neurology & Neurosurgery, Christian Doppler Clinic, Paracelsus Medical University, Salzburg, Austria (C.H., M.K.O., C.J.G.); Department of Neurology, Sin-Lau Hospital, Tainan, Taiwan (C.Y.H.); UCLA Stroke Center and Department of Neurology Department, University of California Los Angeles, Los Angeles, Calif (D.S.L.); Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Hospital Research Institute and University of Ottawa, Ottawa, Ontario, Canada (I.T., R.F.); Department of Diagnostic and Interventional Neuroradiology, Erasme University Hospital, Brussels, Belgium (B.L.).

Article Synopsis
  • * Data from 670 patients revealed that while IVT may improve some outcomes, such as higher chances of achieving a modified Rankin Scale score of 0-2 in univariable analysis, this benefit was not consistently observed in more rigorous multivariable analyses.
  • * Overall, the findings suggest that adjunctive IVT may not significantly enhance clinical outcomes or safety compared to MT alone for this patient population.
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The budget impact of implementing atrial fibrillation-screening in European countries.

Eur Heart J Suppl

July 2024

Unit of Healthcare Analysis, Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.

Article Synopsis
  • A budget impact analysis was conducted to compare the costs of current treatment strategies with a new approach for population screening of atrial fibrillation (AF) in 75-year-olds across eight European countries.
  • The analysis showed that while AF screening leads to increased initial costs due to higher drug and screening expenses, it ultimately results in savings from reduced stroke-related costs.
  • The net budget impact of implementing AF screening varied by country, ranging from €10 in Ireland to €122 in the Netherlands, demonstrating the overall financial benefit of the screening despite the upfront costs.
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Tuning the Functionality of Designer Translating Organelles with Orthogonal tRNA Synthetase/tRNA Pairs.

J Mol Biol

November 2024

Biocenter, Johannes Gutenberg University Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128 Mainz, Germany; Institute of Molecular Biology (IMB) gGmbH, Ackermannweg 4, 55128 Mainz, Germany. Electronic address:

Site-specific incorporation of noncanonical amino acids (ncAAs) can be realized by genetic code expansion (GCE) technology. Different orthogonal tRNA synthetase/tRNA (RS/tRNA) pairs have been developed to introduce a ncAA at the desired site, delivering a wide variety of functionalities that can be installed into selected proteins. Cytoplasmic expression of RS/tRNA pairs can cause a problem with background ncAA incorporation into host proteins.

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: Anastomotic insufficiencies (AI) and perforations of the upper gastrointestinal tract (uGIT) result in high morbidity and mortality. Endoscopic stent placement and endoluminal vacuum therapy (EVT) have been established as surgical revision treatment options. The Eso-Sponge is the only licensed EVT system with limitations in treating small defects (<10 mm).

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Background And Purpose: The novel MR imaging technique of vascular architecture mapping allows in vivo characterization of local changes in cerebral microvasculature, but reference ranges for vascular architecture mapping parameters in healthy brain tissue are lacking, limiting its potential applicability as an MR imaging biomarker in clinical practice. We conducted whole-brain vascular architecture mapping in a large cohort to establish vascular architecture mapping parameter references ranges and identify region-specific cortical and subcortical microvascular profiles.

Materials And Methods: This was a single-center examination of adult patients with unifocal, stable low-grade gliomas with multiband spin- and gradient-echo EPI sequence at 3T using parallel imaging.

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Exploring protein-mediated compaction of DNA by coarse-grained simulations and unsupervised learning.

Biophys J

September 2024

Soft Condensed Matter and Biophysics, Debye Institute for Nanomaterials Science, Utrecht University, Utrecht, the Netherlands.

Protein-DNA interactions and protein-mediated DNA compaction play key roles in a range of biological processes. The length scales typically involved in DNA bending, bridging, looping, and compaction (≥1 kbp) are challenging to address experimentally or by all-atom molecular dynamics simulations, making coarse-grained simulations a natural approach. Here, we present a simple and generic coarse-grained model for DNA-protein and protein-protein interactions and investigate the role of the latter in the protein-induced compaction of DNA.

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Normoglycemia and physiological cortisone level maintain glucose homeostasis in a pancreas-liver microphysiological system.

Commun Biol

July 2024

Drug Metabolism and Pharmacokinetics, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.

Current research on metabolic disorders and diabetes relies on animal models because multi-organ diseases cannot be well studied with standard in vitro assays. Here, we have connected cell models of key metabolic organs, the pancreas and liver, on a microfluidic chip to enable diabetes research in a human-based in vitro system. Aided by mechanistic mathematical modeling, we demonstrate that hyperglycemia and high cortisone concentration induce glucose dysregulation in the pancreas-liver microphysiological system (MPS), mimicking a diabetic phenotype seen in patients with glucocorticoid-induced diabetes.

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Introduction: Increasing the effectiveness of eradication therapy is an important task in gastroenterology. The aim of this study was to evaluate the efficacy and safety of postbiotic containing inactivated (nonviable) Limosilactobacillus (Lactobacillus) reuteri DSM 17648 (Pylopass) as adjuvant treatment of Helicobacter pylori eradication in patients with functional dyspepsia (FD).

Methods: This randomized, double-blind, placebo-controlled, multicenter, parallel study included H.

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Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study.

Neurology

August 2024

From the Université Paris-Saclay (C.D., P.-E.S., B.P., A.E.), UVSQ, Inserm, Gustave Roussy, CESP, Villejuif, France; Centre for Genetic Epidemiology (A.A.K.S., M.S.), Institute for Clinical Epidemiology and Applied Biometry, and Department for Neurodegenerative Diseases (C.S., K.B., T.G.), Hertie Institute for Clinical Brain Research, University of Tubingen; German Center for Neurodegenerative Diseases (DZNE) (C.S., K.B., T.G.), Tubingen; Center for Human Genetics (S.G.), Universitatsklinikum Giessen und Marburg, Germany; Department of Public Health (P.-C.L.), National Cheng Kung University, Tainan, Taiwan; Translational Neuroscience (P.M., D.B., R.K.), Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-Belval; Institute of Human Genetics (M.R.B., P.L.), Helmholtz Zentrum München, Neuherberg, Germany; Molecular Genetics Section (A.B.S., D.H., C.E.), Laboratory of Neurogenetics, and Center for Alzheimer's and Related Dementias (A.B.S.), NIA, NIH, Bethesda, MD; Griffith Institute for Drug Discovery (G.D.M.), Griffith University, Nathan, Australia; Department of Neurology (A.A.Z.), Medical University of Vienna; Department of Neurology (W.P.), Wilhelminenspital, Austria; Tanz Centre for Research in Neurodegenerative Diseases (E.A.R., A.E.L.), University of Toronto; Edmond J. Safra Program in Parkinson's Disease (A.E.L.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN; Division of Neurology (A.E.L.), University of Toronto; Krembil Brain Institute (A.E.L.), Toronto, Ontario, Canada; Centre for Molecular Medicine and Innovative Therapeutics (S.K.), Murdoch University; Perron Institute for Neurological and Translational Science (S.K.), Nedlands, Australia; Department of Neurology and Neurosurgery (P.T.), University of Tartu; Neurology Clinic (P.T.), Tartu University Hospital, Estonia; Department of Neurologie (S.L., A.B., J.-C.C.), Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, Assistance Publique Hôpitaux de Paris, Sorbonne Université; Assistance Publique Hôpitaux de Paris (J.-C.C.), Department of Neurology, CIC Neurosciences; Univ. Lille (M.-C.C.-H., E.M.), Inserm, CHU Lille, UMR-S 1172-LilNCog-Centre de Recherche Lille Neurosciences & Cognition, France; Department of Neurology (A.B.D.), Ludwig Maximilians University of Munich; Department of Neurology (A.B.D.), Max Planck Institute of Psychiatry, Munich, Germany; Department of Neurology and Department of Clinical Genomics (A.B.D.), Mayo Clinic Florida, Jacksonville; Department of Neurology (G.M.H., E.D.), Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia; 1st Department of Neurology (L. Stefanis, A.M.S.), Eginition Hospital, Medical School, National and Kapodistrian University of Athens; Center of Clinical Research, Experimental Surgery and Translational Research (L. Stefanis), Biomedical Research Foundation of the Academy of Athens, Greece; Department of Molecular Medicine (E.M.V.), University of Pavia; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Mondino Foundation (E.M.V.), Pavia; UOC Medical Genetics and Advanced Cell Diagnostics (S.P.), S. Andrea University Hospital, Rome; Department of Clinical and Molecular Medicine (S.P.), University of Rome; Department of Biomedical Sciences (L. Straniero), Humanitas University, Milan; Parkinson Institute (A.L.Z.), Azienda Socio Sanitaria Territoriale (ASST) Gaetano Pini/CTO, Milano; Parkinson Institute (G.P.), Fontazione Grigioni-Via Zuretti, Milan; Department of Neurology (L.B., C.F.), San Gerardo Hospital, Monza; Department of Medicine and Surgery and Milan Center for Neuroscience (L.B., C.F.), University of Milano Bicocca, Milano; Institute for Biomedical Research and Innovation (G.A.), National Research Council, Cosenza; Institute of Neurology (A.Q.), Magna Graecia University; Institute of Molecular Bioimaging and Physiology National Research Council (M.G.), Catanzaro, Italy; Department of Integrative Physiology and Bio-Nano Medicine (H.M., A.N.), National Defense Medical College, Saitama; Department of Neurology (N.H., K.N.), Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan; Department of Neurology (S.J.C.), Asan Medical Center, University of Ulsan College of Medicine; Department of Neurology (Y.J.K.), Yonsei University College of Medicine, Seoul, South Korea; Neurology (P.K., R.K.), Centre Hospitalier de Luxembourg; Department of Neurology (B.P.C.V.D.W., B.R.B.), Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Radboud University Medical Centre, the Netherlands; Department of Neurology (M.T., L.P.), Oslo University Hospital, Norway; Instituto de Medicina Molecular João Lobo Antunes (L.C.G., J.J.F.), Faculdade de Medicina, Universidade de Lisboa; Department of Neurosciences and Mental Health (L.C.G.), Neurology, Hospital de Santa Maria, Centro Hospitalar Universitario Lisboa Norte (CHULN); Laboratory of Clinical Pharmacology and Therapeutics (J.J.F.), Faculdade de Medicina, Universidade de Lisboa, Portugal; Division of Molecular Biology and Human Genetics (S.B.), Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, South Africa; Division of Neurology (J.C.), Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, South Africa; Parkinson's disease & Movement Disorders Unit (E.T.), Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII) (E.T.); Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders (M.E.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Institut de Neurociències, Universitat de Barcelona; Fundació per la Recerca Biomèdica i Social Mútua Terrassa (P.P., M.D.-F.), Terrassa; Movement Disorders Unit (P.P., M.D.-F.), Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain; Department of Clinical Neuroscience (K.W.), Department of Medical Epidemiology and Biostatistics (K.W., N.L.P.), and Department of Neuroscience (C.R., A.C.B.), Karolinska Institutet, Stockholm; Department of Clinical Sciences Lund (A.P., C.H.), Neurology, Skåne University Hospital, Lund University, Sweden; University of Birmingham and Sandwell and West Birmingham Hospitals NHS Trust (C.E.C.); Faculty of Medicine (K.E.M.), Health and Life Sciences, Queens University, Belfast; Department of Clinical and Movement Neurosciences (M.M.T.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (D.K., L.F.B.), Northwestern University Feinberg School of Medicine, Chicago, IL; Metabolic Biochemistry (L.F.B.), Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-Universität München; Munich Cluster for Systems Neurology (SyNergy) (L.F.B.); German Center for Neurodegenerative Diseases (DZNE) (L.F.B.), Munich, Germany; Department of Neurology (M.F.), McKnight Brain Institute, University of Florida, Gainesville; Parkinson's Research Clinic (R.K.), Centre Hospitalier de Luxembourg; and Transversal Translational Medicine (R.K.), Luxembourg Institute of Health (LIH), Strassen.

Article Synopsis
  • The study investigates the relationship between body mass index (BMI) and Parkinson's disease (PD) using a method called Mendelian randomization to determine if higher genetically predicted BMI is linked to a lower incidence of PD.
  • Researchers analyzed genetic data from large groups of individuals, including over 800,000 for BMI and nearly 29,000 for PD, focusing on factors like age, disease duration, and gender to examine the associations.
  • Results indicated an inverse relationship between genetically predicted BMI and PD, particularly among younger participants and women, suggesting that lower BMI may be associated with a higher risk of developing Parkinson's disease.
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Sex and gender-biological and social constructs-significantly impact the prevalence of protective and risk factors, influencing the burden of Alzheimer's disease (AD; amyloid beta and tau) and other pathologies (e.g., cerebrovascular disease) which ultimately shape cognitive trajectories.

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Background: Uncorrected refractive error (URE) is a readily treatable cause of visual impairment (VI). This study provides updated estimates of global and regional vision loss due to URE, presenting temporal change for VISION 2020 METHODS: Data from population-based eye disease surveys from 1980-2018 were collected. Hierarchical models estimated prevalence (95% uncertainty intervals [UI]) of blindness (presenting visual acuity (VA) < 3/60) and moderate-to-severe vision impairment (MSVI; 3/60 ≤ presenting VA < 6/18) caused by URE, stratified by age, sex, region, and year.

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Background: We aimed to update estimates of global vision loss due to age-related macular degeneration (AMD).

Methods: We did a systematic review and meta-analysis of population-based surveys of eye diseases from January, 1980, to October, 2018. We fitted hierarchical models to estimate the prevalence of moderate and severe vision impairment (MSVI; presenting visual acuity from <6/18 to 3/60) and blindness ( < 3/60) caused by AMD, stratified by age, region, and year.

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Objectives: To estimate global and regional trends from 2000 to 2020 of the number of persons visually impaired by diabetic retinopathy and their proportion of the total number of vision-impaired individuals.

Methods: Data from population-based studies on eye diseases between 1980 to 2018 were compiled. Meta-regression models were performed to estimate the prevalence of blindness (presenting visual acuity <3/60) and moderate or severe vision impairment (MSVI; <6/18 to ≥3/60) attributed to DR.

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: The introduction of biological drugs in the management of chronic rhinosinusitis with nasal polyps (CRSwNP) is allowing new and increasingly promising therapeutic options. This manuscript aims to provide a multicenter trial in a real-life setting on Mepolizumab treatment for severe uncontrolled CRSwNP with or without comorbid asthma. : A retrospective data analysis was jointly conducted at the Otolaryngology-Head and Neck Surgery departments of La Sapienza University and San Camillo Forlanini Hospital in Rome.

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Article Synopsis
  • Heart failure with preserved ejection fraction (HFpEF) involves dysfunctional heart muscle cells and is associated with stiffening of the protein titin, affecting muscle performance and leading to exercise intolerance.
  • This study investigated how titin and related proteins are altered in limb and diaphragm skeletal muscle in a rat model of HFpEF, discovering that titin hyperphosphorylation in limb muscles contributes to muscle stiffness and reduced force capabilities.
  • High-intensity interval training (HIIT) was found to reverse this hyperphosphorylation in the limb muscles, while the diaphragm showed no such changes, indicating different responses in skeletal muscle types and further linking titin stiffening to exercise intolerance in HFpEF.
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In clinical trials, laboratory values are assessed with high frequency. This can be stressful for patients, resource intensive, and difficult to implement, for example in office-based settings. In the prospective, multicentre phase 2 TITAN-RCC trial (NCT02917772), we investigated how many relevant changes in laboratory values would have been missed if laboratory values had been assessed less frequently.

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Radiographic assessment plays a crucial role in the management of patients with central nervous system (CNS) tumors, aiding in treatment planning and evaluation of therapeutic efficacy by quantifying response. Recently, an updated version of the Response Assessment in Neuro-Oncology (RANO) criteria (RANO 2.0) was developed to improve upon prior criteria and provide an updated, standardized framework for assessing treatment response in clinical trials for gliomas in adults.

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Amivantamab plus Lazertinib in Previously Untreated -Mutated Advanced NSCLC.

N Engl J Med

October 2024

From the Division of Medical Oncology, Yonsei Cancer Center, Yonsei University College of Medicine (B.C.C.), Samsung Medical Center, Sungkyunkwan University School of Medicine (S.-H.L.), and the Lung Cancer Center, Asan Medical Center Cancer Institute (S.-W.K.), Seoul, the Department of Hematology-Oncology, Seoul National University Bundang Hospital, Seongnam (J.-S.L.), and the Medical Department, Chungbuk National University Hospital, Cheongju (K.-H.L.) - all in South Korea; the Department of Medical Oncology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (S.L.), Harbin Medical University Cancer Hospital, Harbin (B.L.), the Department of Medical Oncology, Huizhou Municipal Central Hospital of Guangdong Province, Huizhou (H.X.), and Jilin Cancer Hospital, Changchun (Y.C.) - all in China; the Medical Oncology Service, Vall d'Hebron Barcelona Hospital Campus-Vall d'Hebron University Hospital, Barcelona (E. Felip), and the Medical Oncology Department, Hospital Regional Universitario de Málaga y Virgen de la Victoria, Institute of Biomedical Research of Malaga, Malaga (V.G.C.) - both in Spain; Virginia Cancer Specialists, Fairfax (A.I.S.); Institut Curie, Institut du Thorax Curie-Montsouris, Paris (N.G.), and Paris-Saclay University, Université de Versailles Saint-Quentin-en-Yvelines, Versailles (N.G.), and Paris-Saclay University and Institut Gustave Roussy, Villejuif (B.B.) - all in France; the National Cancer Institute, Kyiv, Ukraine (Y.O.); the Division of Medical Oncology, Department of Medicine, Siriraj Hospital Faculty of Medicine, Mahidol University Bangkok Noi Campus, Bangkok, Thailand (P.D.); the Clinical Oncology Unit, Faculty of Medicine, University of Malaya, Kuala Lumpur (A.A.), and the Department of Internal Medicine, Division of Respiratory Medicine, International Islamic University Malaysia Medical Specialist Center, Pahang (S.-H.H.) - both in Malaysia; British Hospital of Buenos Aires, Central British Hospital, Buenos Aires (E.K.); the Department of Medical Oncology, Barretos Cancer Hospital, São Paulo (J.M.D.); the School of Medicine and Institute of Medicine, Chung Shan Medical University, and the Division of Pulmonary Medicine, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung (G.-C.C.), and the Department of Medical Oncology, National Taiwan University Cancer Center, Taipei (J.C.-H.Y.) - both in Taiwan; the Department of Thoracic Oncology, Kansai Medical University Hospital, Hirakata (H.Y.), and the Department of Medical Oncology, Kindai University Faculty of Medicine, Osaka (H.H.) - both in Japan; the Department of Thoracic Oncology, Thoraxklinik, Heidelberg University Hospital, and the National Center for Tumor Diseases Heidelberg, German Center for Lung Research, Heidelberg, Germany (M.T.); City of Hope National Medical Center, Duarte (D.N.), Chao Family Comprehensive Cancer Center, University of California, Irvine, School of Medicine, Orange (S.-H.I.O.), and Janssen Research and Development, San Diego (E. Fennema, D.M., S.M.S.) - all in California; St. John of God Murdoch Hospital, Murdoch, WA, Australia (S.M.); the Department of Medical Oncology, Division of Adult Solid Tumor, Tata Memorial Center and Homi Bhabha National Institute, Mumbai, India (K.P.); the Local Health Unit Authority of Romagna, Ravenna Hospital and Department of Onco-Hematology, Santa Maria delle Croci Hospital of Ravenna, Ravenna (M. D'Arcangelo), and the Division of Thoracic Oncology, European Institute of Oncology IRCCS, Milan (F.M., A.P.) - both in Italy; Health Pharma Professional Research, Mexico City (J.A.-A.), Oncología Médica, Antiguo Hospital Civil de Guadalajara "Fray Antonio Alcalde," Guadalajara, and Universidad de Guadalajara, Guadalajara (J.C.V.L.) - all in Mexico; Instituto Português de Oncologia do Porto, Porto, Portugal (S.A.); Moscow City Oncology Hospital No. 62 (D.S.) and the Medical Center in Kolomenskoe (M.P.) - both in Moscow; the Department of Medical Oncology, Ankara Bilkent City Hospital and Ankara Yıldırım Beyazıt University (M.A.N.Ş.), and the Department of Medical Oncology, Gazi University Faculty of Medicine (O.Y.) - both in Ankara, Turkey; the Department of Medical Oncology, Christie NHS Foundation Trust and Division of Cancer Sciences, University of Manchester, Manchester, United Kingdom (R.C.); the Division of Hematology-Oncology, Henry Ford Cancer Institute, Henry Ford Health, Detroit (S.M.G.); Janssen Research and Development, Raritan, NJ (J.X., T.S., M.M., M. Daksh, M.B.); Janssen Research and Development, Spring House, PA (M.E., R.I., P.L., S. Shah, J.M.B., S. Sethi, R.E.K.); and Johnson and Johnson Clinical Innovation, Campus Basel, Allschwil, Switzerland (I.L.).

Article Synopsis
  • - The study investigates the effectiveness of amivantamab plus lazertinib compared to osimertinib in treating patients with advanced non-small-cell lung cancer (NSCLC) caused by specific genetic mutations.
  • - Results showed that patients receiving the amivantamab-lazertinib treatment had a significantly longer progression-free survival (23.7 months) than those on osimertinib (16.6 months), and the response rate was similar among both groups.
  • - Side effects primarily related to treatment were noted, but the overall survival analysis indicated a potential benefit for amivantamab-lazertinib over osimertinib, with fewer serious complications leading to treatment discontinuation.
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