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Progressive supranuclear palsy: an updated approach on diagnosis, treatment, risk factors and outlook in Mexico.
Gac Med Mex
January 2025
Laboratorio de Reprogramación Celular y Enfermedades Crónico-Degenerativas, Department of Physiology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Progressive supranuclear palsy (PSP) is a rare, atypical parkinsonism, characterized by the presence of intracerebral tau protein aggregates and determined by a wide spectrum of clinical features. The definitive diagnosis is postmortem and is identified through the presence of neuronal death, gliosis, and aggregates of the tau protein presented in the form of neurofibrillary tangles (MNF) with a globose appearance in regions such as the subthalamic nucleus, the substantia nigra, and the globus pallidus The findings in ancillary imaging studies, as well as fluids biomarkers, are not sufficient to support diagnosis of PSP but are used to rule out similar pathologies because there are still no specific or validated biomarkers for this disease. The current treatment of PSP is focused on reducing symptoms, although emerging therapies seek to counteract its pathophysiological mechanisms.
View Article and Find Full Text PDFBiomolecular analysis of the Epigravettian human remains from Riparo Tagliente in northern Italy.
Commun Biol
October 2024
Archaeo- and Palaeogenetics, Institute for Archaeological Sciences, Department of Geosciences, University of Tübingen, Tübingen, Germany.
The Epigravettian human remains from Riparo Tagliente in northern Italy represent some of the earliest evidence of human occupation in the southern Alpine slopes after the Last Glacial Maximum. Genomic analyses of the 17,000-year-old Tagliente 2 mandible revealed the oldest presence of a genetic profile with affinities to the Near East in the Italian peninsula, which later became the most widespread hunter-gatherer ancestry across Europe. However, a comparable biomolecular characterization of the Tagliente 1 burial remains unavailable, preventing us from defining its biological relationships with Tagliente 2.
View Article and Find Full Text PDFA Case Series of Primary Cutaneous Sarcomatoid Carcinoma With Aberrant Smooth Muscle Actin Expression: A Clinicopathologic and Immunophenotypic Study.
Am J Dermatopathol
February 2025
Dermatologist, Departments of Pathology and Dermatology, Columbus, OH.
Article Synopsis
- Primary cutaneous sarcomatoid squamous cell carcinoma (PCSSCC) can be difficult to diagnose due to its similarities with other spindle cell tumors and atypical expressions of markers like smooth muscle actin (SMA).
- A study of 16 cases showed that these tumors were high-grade and typically involved deeper skin layers, with most cases exhibiting atypical spindle and epithelioid cell patterns.
- The research highlights the importance of using multiple epithelial markers for accurate diagnosis, while also noting that SMA expression can complicate the identification process.
Small, Fluorinated Mn Chelate as an Efficient H and F MRI Probe.
Angew Chem Int Ed Engl
October 2024
Centre de Biophysique Moléculaire, CNRS UPR 4301, Université d'Orléans, rue Charles Sadron, 45071, Orléans, France.
We explore the potential of fluorine-containing small Mn chelates as alternatives to perfluorinated nanoparticles, widely used as F MRI probes. In MnL1, the cyclohexanediamine skeleton and two piperidine rings, involving each a metal-coordinating amide group and an appended CF moiety, provide high rigidity to the complex. This allows for good control of the Mn-F distance (r=8.
View Article and Find Full Text PDFThe Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
N Engl J Med
May 2024
From the Fungal Pathogenesis (V.O., G.M.C., M.M.S., E.M.N.F., L.D.S.D., J.P., Y.H., T.W., B.D.S., S.D., T.D., P.B., T.J.B., M.S.L.), the Immunopathogenesis (L.B.R., A.C., S.M.H.), and Immune Deficiency Genetics (L.D.N.) Sections, Laboratory of Clinical Immunology and Microbiology, the Centralized Sequencing Program, Division of Intramural Research (B.A.S., R.G., M.W.), and the Translational Autoinflammatory Disease Section (A.R., A.A.J., R.G.-M.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, Center for Cancer Research (J.L.D.), National Cancer Institute (G.S., J.C.A., D.R., C.R.L., D.E.K., M.M.Q., S.P.), the Immunoregulation Section, Kidney Diseases Branch (D.K., B.A.), and the Translational Hepatology Section, Liver Diseases Branch (T.H.), National Institute of Diabetes and Digestive and Kidney Diseases, the Genomics and Computational Biology Core (D.M.), the Salivary Disorders Unit (B.M.W.), and the Oral Immunity and Inflammation Section (N.M.M.), National Institute of Dental and Craniofacial Research, the Immunology Service, Department of Laboratory Medicine (J.S., H.S.K., S.D.R.), the Pharmacy Department (B.C.), and the Critical Care Medicine Department (A.F.S.), Clinical Center, the Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (H.H.K., L.C.-S.), the Pulmonary Branch, National Heart, Lung, and Blood Institute (K.P.F., K.N.O.), and Eunice Kennedy Shriver National Institute of Child Health and Human Development (K.K.W.) - all at the National Institutes of Health, Bethesda, MD; Nantes Université, Centre Hospitalier Universitaire Nantes, INSERM, Centre de Recherche en Transplantation et Immunologie, Unité Mixte de Recherche 1064, Institut de Transplantation Urologie-Néphrologie, Nantes, France (M.B., C.G.); the Diabetes Center, University of California at San Francisco, San Francisco (M.S.A.), the Division of Infectious Diseases and the Lundquist Institute for Biomedical Innovation, Harbor-University of California, Los Angeles (UCLA), Medical Center, Torrance (M.S.), and the David Geffen School of Medicine, UCLA, Los Angeles (M.S.); Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla/Universidad de Sevilla/Consejo Superior de Investigaciones Científicas, Red de Investigación Translacional en Infectología Pediátrica (O.N., P.O.), and Departamento de Dermatología (M.T.M.-G.), Sección de Gastroenterología, Hepatología y Nutrición Pediatrica (J.V.-F.), Sección de Inmunología (J.M.L.), Sección de Endocrinología Pediátrica (A.L.G.-G.), and Sección de Nefrología Pediátrica (A.G.R.), Hospital Infantil Universitario Virgen del Rocío, and Departamento de Farmacología, Pediatría, y Radiología, Facultad de Medicina, Universidad de Sevilla (P.O.) - all in Seville, Spain; the University of Helsinki and Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki (M.R.J.S., J.L., M.H., S.L., P.K.); and the Department of Pediatrics, Institute of Clinical Sciences, and the Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (V.L., O.E.).
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
- The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
- Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
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