1,265 results match your criteria: "Germany C.J.; and Berlin Institute of Health[Affiliation]"

Real-world evaluation of treatment utilization by women experiencing vasomotor symptoms associated with menopause in the United States and Europe: Findings from the REALISE study.

Maturitas

November 2024

Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Research Center for Reproductive Medicine, Gynecological Endocrinology and Menopause, Obstetrics and Gynecology Unit, IRCCS San Matteo Foundation, Pavia, Italy.

Objectives: Despite the profound impact of menopausal symptoms on women, treatment utilization is low, and many seek alternative therapies. The REALISE study aimed to evaluate the treatment landscape - that is, pharmacological treatment, lifestyle changes (LC), and use of over-the-counter (OTC) products - for women from six high-income countries experiencing vasomotor symptoms (VMS) and receiving healthcare.

Study Design: Analysis of a secondary dataset, the Adelphi Real World Disease Specific Programme™, a large, cross-sectional, point-in-time survey conducted in the United States and five European countries (February-October 2020).

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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Neurology

September 2024

From the Department of Child Neurology (D.H.S., M.S.v.d.K., N.I.W.), Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit; Amsterdam Leukodystrophy Center (D.H.S., M.S.v.d.K., N.I.W.), Amsterdam Neuroscience, Cellular & Molecular Mechanisms; Medicine for Society (D.H.S., S.v.d.B., N.R., C.E.M.H.), Platform at Amsterdam UMC location University of Amsterdam; Department of Endocrinology and Metabolism (S.v.d.B., A.B., M.R.D., N.R., C.E.M.H.), Amsterdam UMC location University of Amsterdam; National Health Care Institute (Zorginstituut Nederland) (L.T.), Diemen, the Netherlands; Division of Child Neurology (L.A.A.), Children's Hospital of Philadelphia, PA; Institute of Systems Motor Science (T.B.), CBBM, Universität of Lübeck; Centre of Rare Diseases (T.B.), University Hospital Schleswig Holstein, Lübeck, Germany; Division of Metabolic Diseases (A.B.), Department of Pediatrics, Emma Childrens' Hospital, Amsterdam UMC location University of Amsterdam, the Netherlands; National Health Care Institute RIZIV-INAMI (M.v.d.C.), Brussels, Belgium; VKS (H.D.), Dutch Patient Organization for Metabolic Diseases, Zwolle; United for Metabolic Diseases (UMD) (H.D.), Amsterdam, the Netherlands; International Niemann-Pick Disease Registry (C.D.), Washington, Tyne & Wear, United Kingdom; VSOP-Patient Alliance for Rare and Genetic Diseases (M.H.E.D.), Soest, the Netherlands; Institute for Medical Genetics and Applied Genomics (H.G.), University of Tübingen; Centre for Rare Disease (H.G.), University Hospital Tübingen, Germany; Yaya foundation for 4H Leukodystrophy (V.G.), Minneapolis, MN; Orphanet (T.H.), INSERM US14 Rare Disease Platform, Paris, France; Department of Neurology (G.U.H.), LMU University Hospital, Ludwig-Maximilians-Universität (LMU), Munich; German Center for Neurodegenerative Diseases e.V. (DZNE) (G.U.H., T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (G.U.H.), Germany; Department of Pediatrics (H.v.d.H.), Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children's Hospital, Rotterdam; European Medicines Agency (C.J., K.P.), Amsterdam; Medicines Evaluation Board (C.J.), Utrecht; Department of Endocrinology and Metabolism (M.L.), Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute, University of Amsterdam, the Netherlands; Canadian Agency for Drugs and Health Technology Technologies Agendcy in Health (CADTH) (L.J.L.), Ottawa, Ontario, Canada; CHDI Management, Inc. (E.N.), the company that manages the scientific activities of CHDI Foundation, Inc., New York, NY; National Health Care Institute (M.N., W.G.G.), Diemen, the Netherlands; Department of Neurology (T.K.), University of Bonn, Germany; Department of Integrative Neurophysiology (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; European Commission (A.P.), Joint Research Centre (JRC), Ispra, Italy; Patient Advocate Organization 'Vereniging HCHWA-d' (HCHWA-D Association) (S.v.R.), the Netherlands; European Leukodystrophies Association (E.F.S.-V.), Paris, France; Medical BioSciences Department (B.d.S.V.), Radboud University Medical Center, Nijmegen; and WHO Collaborating Centre for Pharmaceutical Policy and Regulation (W.G.G.), Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht University, the Netherlands.

Article Synopsis
  • Progress in genetic diagnosis and orphan drug legislation has led to new therapies for rare neurogenetic diseases (RNDs), but challenges remain in academia, regulation, and finances.
  • The study aims to create a practical framework for developing patient registries that address these challenges and enhance outcomes in care, research, and drug development for RNDs.
  • A comprehensive approach combining literature review, interviews with existing registries, and feedback from various stakeholders was used to ensure the framework meets diverse needs and emphasizes key principles like accessible, independent, and trustworthy data governance.
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Article Synopsis
  • Chronic motor impairments are a significant disability after stroke, traditionally linked to damage in specific motor system structures like the corticospinal tract.
  • This study employs a data-driven approach to analyze chronic motor outcomes in 789 stroke patients, comparing the effectiveness of theory-based biomarkers against new data-driven biomarkers derived from clinical imaging data.
  • Results indicate that data-driven biomarkers, especially regional structural disconnection measures, show a stronger correlation with motor outcomes than traditional theory-based measures, while combining demographic factors further enhanced predictive accuracy.
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Article Synopsis
  • The study investigates the relationship between systemic bile acids and the progression of Barrett's esophagus (BE), particularly their role in advancing stages that may lead to esophageal adenocarcinoma (EAC).
  • It involved profiling serum bile acids in 141 subjects (both with and without BE) and examined how various factors, like diet and age, influenced bile acid levels, finding significant differences between non-BE and BE stages.
  • Results indicate that higher levels of specific bile acids, especially cholic acid, are linked to advanced BE conditions and gene expression changes, suggesting that they may serve as potential biomarkers or targets for future therapeutic strategies.
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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Nat Rev Endocrinol

December 2024

Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

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Navigating the European Union Artificial Intelligence Act for Healthcare.

NPJ Digit Med

August 2024

School of Medicine and Health, Department of Cardiovascular Radiology and Nuclear Medicine, German Heart Center, TUM University Hospital, Technical University of Munich, Munich, Germany.

Article Synopsis
  • The EU's AI Act is the first detailed legal framework focused on artificial intelligence, particularly impacting healthcare.
  • Existing regulations like the Medical Device Regulation do not specifically address medical AI applications, making the AI Act crucial for this sector.
  • The commentary highlights key elements of the AI Act, providing clear references to specific chapters for better understanding.
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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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Venetoclax-obinutuzumab for previously untreated chronic lymphocytic leukemia: 6-year results of the randomized phase 3 CLL14 study.

Blood

October 2024

Department I of Internal Medicine, Faculty of Medicine and University Hospital of Cologne, Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf, German Chronic Lymphocytic Leukemia Study Group, University of Cologne, Cologne, Germany.

In the CLL14 study, patients with previously untreated chronic lymphocytic leukemia (CLL) and coexisting conditions were randomized to 12 cycles of venetoclax-obinutuzumab (Ven-Obi, n = 216) or chlorambucil-obinutuzumab (Clb-Obi, n = 216). Progression-free survival (PFS) was the primary end point. Key secondary end points included time-to-next-treatment (TTNT), rates of undetectable minimal residual disease (uMRD), overall survival (OS), and rates of adverse events.

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GAIN-2 trial evaluated the optimal intense dose-dense (idd) strategy for high-risk early breast cancer. This study reports the secondary endpoints pathological complete response (pCR) and overall survival (OS). Patients (n = 2887) were randomized 1:1 between idd epirubicin, nab-paclitaxel, and cyclophosphamide (iddEnPC) versus leukocyte nadir-based tailored regimen of dose-dense EC and docetaxel (dtEC-dtD) as adjuvant therapy, with neoadjuvant therapy allowed after amendment.

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Variants in the autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.

bioRxiv

October 2023

Genes and Human Disease Research Program, Oklahoma Medical Research Foundation (OMRF), Oklahoma City, Oklahoma, USA.

Fine mapping and bioinformatic analysis of the genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on and expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including .

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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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: To investigate whether phakia affects the outcome of XEN-45 gel stent implantation in the treatment of pseudoexfoliative glaucoma (PXG). : A retrospective, comparative cohort study of 30 phakic and 55 pseudophakic PXG patients who received the XEN-45 gel stent at a tertiary centre. The primary outcome measure was two-year success defined as a ≥20% lowering of intraocular pressure (IOP) and a target IOP of 6-21 mmHg.

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Prognostic impact of selection criteria of current adjuvant endocrine therapy trials NATALEE and monarchE in postmenopausal HRpos/HER2neg breast cancer patients treated with upfront letrozole.

Eur J Cancer

September 2024

Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Biostatistics Unit, Erlangen University Hospital, Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Germany.

Background: The monarchE and NATALEE trials demonstrated the benefit of CDK4/6 inhibitor (CDK4/6i) therapy in adjuvant breast cancer (BC) treatment. Patient selection, based on clinical characteristics, delineated those at high (monarchE) and high/intermediate recurrence risk (NATALEE). This study employed a historical patient cohort to describe the proportion and prognosis of patients eligible for adjuvant CDK4/6i trials.

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Treatment utilization and non-drug interventions for vasomotor symptoms in breast cancer survivors taking endocrine therapy: Real-world findings from the United States and Europe.

Maturitas

October 2024

Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Research Center for Reproductive Medicine, Gynecological Endocrinology and Menopause, Obstetrics and Gynecology Unit, IRCCS San Matteo Foundation, Str. Privata Campeggi, 40, 27100 Pavia, Italy.

Objectives: Vasomotor symptoms induced by endocrine therapy are common in breast cancer survivors and a risk factor for therapy discontinuation and lower quality of life. The REALISE study evaluated the real-world treatment landscape in breast cancer survivors with vasomotor symptoms taking endocrine therapy, including pharmaceuticals, lifestyle changes, and over-the-counter products.

Study Design: Secondary analysis of the Adelphi Vasomotor Disease Specific Programme™, a large cross-sectional point-in-time survey and chart review conducted in the US and five European countries (February-October 2020).

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Empagliflozin prevents heart failure through inhibition of the NHE1-NO pathway, independent of SGLT2.

Basic Res Cardiol

October 2024

Laboratory of Experimental Intensive Care and Anesthesiology (L.E.I.C.A.), Department of Anesthesiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Article Synopsis
  • * In experiments with mice, SGLT2 knockout mice showed only mild heart dysfunction, while EMPA significantly improved heart function and reduced fibrosis, edema, and oxidative stress in both normal and SGLT2 knockout mice.
  • * The study suggests that EMPA's protective effects come from its interaction with the sodium hydrogen exchanger 1 (NHE1) and nitric oxide (NO) pathways rather than through SGLT2 inhibition, highlighting the importance of targeting NHE1 for heart failure treatment. *
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Introduction: We examined whether the aging suppressor KLOTHO gene's functionally advantageous KL-VS variant (KL-VS heterozygosity [KL-VS]) confers resilience against deleterious effects of aging indexed by cerebrospinal fluid (CSF) biomarkers of neuroinflammation (interleukin-6 [IL-6], S100 calcium-binding protein B [S100B], triggering receptor expressed on myeloid cells [sTREM2], chitinase-3-like protein 1 [YKL-40], glial fibrillary acidic protein [GFAP]), neurodegeneration (total α-synuclein [α-Syn], neurofilament light chain protein), and synaptic dysfunction (neurogranin [Ng]).

Methods: This Alzheimer disease risk-enriched cohort consisted of 454 cognitively unimpaired adults (M= 61.5 ± 7.

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Article Synopsis
  • Many studies on brain diseases mostly involve people of European descent, which makes it hard to understand these diseases for everyone.
  • Out of 123 studies, 82% mainly included European participants, finding many genetic markers, while only a few were found in studies with non-European participants.
  • It’s super important to include more diverse backgrounds in future research to improve treatments and knowledge about these brain diseases.
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Climate change poses a significant threat to global agriculture, necessitating innovative solutions. Plant synthetic biology, particularly chloroplast engineering, holds promise as a viable approach to this challenge. Chloroplasts present a variety of advantageous traits for genetic engineering, but the development of genetic tools and genetic part characterization in these organelles is hindered by the lengthy time scales required to generate transplastomic organisms.

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Annotating compounds with high confidence is a critical element in metabolomics. C-detection NMR experiment INADEQUATE (incredible natural abundance double-quantum transfer experiment) stands out as a powerful tool for structural elucidation, whereas this valuable experiment is not often included in metabolomics studies. This is partly due to the lack of community platform that provides structural information based INADEQUATE.

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Article Synopsis
  • - The study compared the effectiveness and safety of four first-generation flow diverters (FDs) used for treating sidewall ICA intracranial aneurysms, which include Pipeline, Silk, FRED, and Surpass devices, using data from 444 patients across 18 institutions from 2009-2016.
  • - Analysis revealed no significant differences in retreatment rates or complications among the devices; however, the Surpass device showed the highest probability of achieving effective occlusion at follow-up, followed by FRED, Pipeline, and Silk.
  • - Although all devices had good clinical outcomes, the study highlights the need for prospective research to further clarify the differences and long-term effects of these flow diverters.
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Article Synopsis
  • Activin receptor-like kinases 1-7 (ALK1-7) play a crucial role in regulating both SMAD-dependent and SMAD-independent signaling pathways, particularly in bone morphogenetic protein (BMP) signaling.
  • Current inhibitors for studying these pathways lack sufficient selectivity, making it difficult to validate cellular targets effectively.
  • The study identifies two new selective inhibitors of ALK1 and ALK2 that block the BMP pathway effectively in cells and demonstrate good in vivo profiles, with one showing high penetration into the brain, providing valuable tools for research in BMP signaling.
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This topical review assesses the growing role of cardiac biomarkers beyond cardiovascular health and focuses on their importance in stroke and dementia. The first part describes blood-based cardiac biomarkers in patients with stroke and highlights applications in the setting of early diagnosis, poststroke complications, outcome prediction as well as secondary prevention. Among other applications, natriuretic peptides can be helpful in differentiating stroke subtypes.

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Amphibians represent a diverse group of tetrapods, marked by deep divergence times between their three systematic orders and families. Studying amphibian biology through the genomics lens increases our understanding of the features of this animal class and that of other terrestrial vertebrates. The need for amphibian genomic resources is more urgent than ever due to the increasing threats to this group.

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