[This corrects the article DOI: 10.1371/journal.pone.0165247.].
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0171059 | PLOS |
J Bone Miner Res
January 2025
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
We previously documented successful resolution of skeletal and dental disease in the infantile and late-onset murine models of hypophosphatasia (HPP), with a single injection of an adeno-associated serotype 8 vector encoding mineral-targeted TNAP (AAV8-TNAP-D10). Here, we conducted dosing studies in both HPP mouse models. A single escalating dose from 4x108 up to 4x1010 (vg/b) was intramuscularly injected into 4-day-old Alpl-/- mice (an infantile HPP model) and a single dose from 4x106 up to 4x109 (vg/b) was administered to 8-week-old AlplPrx1/Prx1 mice (a late-onset HPP model).
View Article and Find Full Text PDFAm J Geriatr Psychiatry
December 2024
Department of Clinical and Experimental Sciences (DA, BB), University of Brescia, Brescia, Italy; Molecular Markers Laboratory (BB), IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. Electronic address:
Objectives: The present study aims to assess the prevalence, associated clinical symptoms, longitudinal changes, and imaging correlates of Loss of Insight (LOI), which is still unexplored in syndromes associated with Frontotemporal Lobar Degeneration (FTLD).
Design: Retrospective longitudinal cohort study, from Oct 2009 to Feb 2023.
Setting: Tertiary Frontotemporal Dementia research clinic.
Cancers (Basel)
January 2025
Sophia, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Cardiovascular Diseases Unit, Cardio Thoracic and Vascular Department, Le Scotte Hospital, University of Siena, 53100 Siena, Italy.
Pulmonary congestion is a critical factor influencing the clinical presentation, therapeutic decisions, and outcomes of heart failure (HF) patients. Lung ultrasound (LUS) offers a simple, rapid, and accurate method for assessing pulmonary congestion, surpassing the diagnostic capabilities of traditional clinical evaluation and chest radiography. Due to the wide availability of ultrasound equipment, congestion can be evaluated in multiple settings, ranging from emergency departments to intensive care units, including outpatient settings.
View Article and Find Full Text PDFInt Immunopharmacol
January 2025
Department of Otorhinolaryngology & Clinical Allergy Center, The First Affiliated Hospital, Nanjing Medical University, Nanjing, China; International Center for Allergy Research, Nanjing Medical University, Nanjing, China. Electronic address:
Background: The etiology of allergic rhinitis (AR), in which genetic and environmental factors are closely intertwined, has not yet been completely clarified. Programmed cell death 1 (PD-1) and its ligands (PD-L1 and PD-L2) regulate the immune and inflammatory responses during the development of immune-related and atopic diseases. To clarify the associations of genetic variants in PD-1, PD-L1 and PD-L2 with susceptibility to AR, gene-gene and gene-environment interactions were investigated.
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