424 results match your criteria: "the University of Pennsylvania Perelman School of Medicine[Affiliation]"
Liver Int
February 2025
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Background: Alagille syndrome (ALGS) is a multisystem cholestatic disorder. Maralixibat is approved for the treatment of cholestatic pruritus in ALGS with limited data in adults.
Methods: Participants were included if they received ≥ 2 doses of maralixibat at age ≥ 16 years in one of the three previously published maralixibat ALGS clinical trials.
Pediatr Emerg Care
January 2025
Department of Emergency Medicine, Division of Pediatric Emergency Medicine, Mayo Clinic, Rochester, MN.
Objectives: ImPACTS (Improving Acute Care Through Simulation) is a collaborative simulation-based program partnering pediatric specialty centers ("hubs") with general emergency departments (GEDs) to improve pediatric acute care. Objective measurements of ImPACTS, such as evaluating Pediatric Readiness Score (PRS) and simulation-based outcome improvements, have been reported previously. Barriers to and facilitators of program involvement and the downstream effects of the program have not been previously described.
View Article and Find Full Text PDFHaematologica
January 2025
Division of Oncology, the Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
While outcomes for pediatric acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LBL) have improved dramatically in recent decades, relapsed and refractory disease remain a significant therapeutic challenge. This is particularly true for patients with T-cell ALL and LBL, where survival for patients with relapsed/refractory disease remains dismal. Recent efforts to comprehensively profile the genomics of T-ALL/LBL to improve understanding of disease biology have enhanced our ability to identify high-risk patients at diagnosis who are more likely to relapse and have also identified novel targets for precision medicines.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
December 2024
Department of Orthopaedic Surgery, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Background: Modern techniques in lower extremity amputation have made significant advances to improve prosthetic control and soft-tissue envelopes through various techniques, including medial thighplasties. These advances are necessary to enhance the fit and functionality of the prosthesis in transfemoral amputations.
Methods: We performed a retrospective review of all thighplasties performed at our institution in patients with ipsilateral transfemoral amputation from November 2017 to December 2021.
Epilepsia
December 2024
Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
View Article and Find Full Text PDFCirculation
December 2024
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor. (E.D.S., Y.-C.T., B.E., A.B., O.M., S.S., A.S.H.).
Pediatr Crit Care Med
January 2025
Department of Pediatrics, Yale School of Medicine, New Haven, CT.
N Engl J Med
November 2024
From the Division of Pulmonary Allergy and Critical Care Medicine, Center for Clinical Epidemiology and Biostatistics, Lung Biology Institute at the University of Pennsylvania Perelman School of Medicine, Philadelphia (J.D.C.); the Department of Thoracic Surgery, University Hospitals Leuven, and the Laboratory of Respiratory Diseases and Thoracic Surgery, Department of Chronic Diseases and Metabolism, KU Leuven University - both in Leuven, Belgium (D.V.R.); and the Department of Transplantation and Regenerative Medicine, Newcastle University Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (A.J.F.).
N Engl J Med
October 2024
From the Renal Studies Group, Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom (W.G.H., N.S., N.A., C.W., J.R.E., D.P., P.J., D.Z., R. Dayanandan, R.A., K.J.M., S.Y.A.N., E.S., W.S., K.W., M.H., M.J.L., C.B., R.H.); the University Clinic of Würzburg, Würzburg (C.W., S.B.), Boehringer Ingelheim International (S.J.H., D.S., M.B.), Elderbrook Solutions (D.M.), and the Fifth Department of Medicine, University Medical Center Mannheim (S.J.H.) and the First Department of Medicine, Faculty of Medicine Mannheim (M.B.), University of Heidelberg, Mannheim, and the Department of Nephrology, Hospital Rechts der Isar, Technical University of Munich, Munich (D.S.) - all in Germany; Duke Clinical Research Institute, Durham, NC (J.B.G.); the University of Utah, Salt Lake City (A.K.C.); the National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing (Z.-H.L.), and Fuwai Hospital, Chinese Academy of Medical Sciences, National Center for Cardiovascular Diseases, Beijing (J.L.) - both in China; Hospital Sultanah Aminah, Johor Bahru, Malaysia (L.S.H., W.L.); the University of Tokyo School of Medicine/Toranomon Hospital (T.K.) and the University of Tokyo School of Medicine (M.N.), Tokyo, and Tokai University School of Medicine, Isehara (S.G.) - all in Japan; the University of British Columbia, Vancouver (A.L.), and the University of Toronto, Toronto (D.Z.I.C.) - both in Canada; Università degli Studi and IRCCS Ospedale Policlinico San Martino di Genova, Genoa (R.P.), and Associazione Nazionale Medici Cardiologi Ospedalieri Research Center, Florence (A.P.M.) - both in Italy; the University of Pennsylvania Perelman School of Medicine, Philadelphia (R. Deo); Providence Health Care and University of Washington, Seattle (K.R.T.); and Hospital Universitario Son Espases, Health Research Institute of the Balearic Islands, Universitat Illes Balears, Palma de Mallorca, Spain (X.R.).
Brain
October 2024
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants in DDX17. All 11 patients in our case series had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated.
View Article and Find Full Text PDFbioRxiv
September 2024
Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, U.S.A.
NPJ Vaccines
October 2024
Institue for RNA Innovation, the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Nucleoside-modified mRNA-LNP vaccines have revolutionized vaccine development against infectious pathogens due to their ability to elicit potent humoral and cellular immune responses. In this article, we present the results of the first norovirus vaccine candidate employing mRNA-LNP platform technology. The mRNA-LNP bivalent vaccine encoding the major capsid protein VP1 from GI.
View Article and Find Full Text PDFJ Neurochem
January 2025
Department of Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
Galactic cosmic radiation (GCR) is an unavoidable risk to astronauts that may affect mission success. Male rodents exposed to 33-beam-GCR (33-GCR) show short-term cognitive deficits but reports on female rodents and long-term assessment are lacking. We asked: What are the longitudinal behavioral effects of 33-GCR on female mice? Also, can an antioxidant/anti-inflammatory compound (CDDO-EA) mitigate the impact of 33-GCR? Mature (6-month-old) C57BL/6J female mice received CDDO-EA (400 μg/g of food) or a control diet (vehicle, Veh) for 5 days and Sham-irradiation (IRR) or whole-body 33-GCR (0.
View Article and Find Full Text PDFThe generation and maintenance of protective immunity is a dynamic interplay between host and environment that is impacted by age. Understanding fundamental changes in the healthy immune system that occur over a lifespan is critical in developing interventions for age-related susceptibility to infections and diseases. Here, we use multi-omic profiling (scRNA-seq, proteomics, flow cytometry) to examined human peripheral immunity in over 300 healthy adults, with 96 young and older adults followed over two years with yearly vaccination.
View Article and Find Full Text PDFPediatr Crit Care Med
September 2024
Division of Critical Care, Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Crit Care Clin
October 2024
Division of Critical Care, Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Main Hospital, Ninth Floor, Room 9NW102, Philadelphia, PA 19104, USA; Department of Anesthesiology and Critical Care, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
JAMA Pediatr
October 2024
JAMA Pediatrics , JAMA Network.
bioRxiv
September 2024
Harvard Medical School, Blavatnik Institute, Department of Neurobiology, Boston, MA 02115, USA.
In recent years, we and others have identified a number of enhancers that, when incorporated into rAAV vectors, can restrict the transgene expression to particular neuronal populations. Yet, viral tools to access and manipulate fine neuronal subtypes are still limited. Here, we performed systematic analysis of single cell genomic data to identify enhancer candidates for each of the cortical interneuron subtypes.
View Article and Find Full Text PDFSemin Arthritis Rheum
October 2024
Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Rheumatology, Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address:
Curr Pain Headache Rep
October 2024
Department of Anesthesiology, Maternal and Child Health Hospital of Hubei Province, NO.745 Wuluo Road, Hongshan District, Wuhan, Hubei, China, 430070.
Purpose Of The Review: With the increasing prevalence of cesarean section globally, the importance of perioperative analgesia for cesarean section is becoming increasingly evident. This article provides an overview and update on the current status of cesarean section worldwide and associated analgesic regimens.
Recent Findings: Some recent studies unveiled potential association of neuraxial analgesia might be associated with children's autism, pharmacologic analgesia in obstetric will potentially gain some more attention.
Nat Commun
June 2024
Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.
Impairment of the central nervous system (CNS) poses a significant health risk for astronauts during long-duration space missions. In this study, we employed an innovative approach by integrating single-cell multiomics (transcriptomics and chromatin accessibility) with spatial transcriptomics to elucidate the impact of spaceflight on the mouse brain in female mice. Our comparative analysis between ground control and spaceflight-exposed animals revealed significant alterations in essential brain processes including neurogenesis, synaptogenesis and synaptic transmission, particularly affecting the cortex, hippocampus, striatum and neuroendocrine structures.
View Article and Find Full Text PDFIndian J Pediatr
June 2024
Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Federal and state governments mandate some health care organizations to implement antibiotic stewardship programs (ASPs). Some early adopters developed model ASPs that have helped set industry standards; other benchmarks will likely be forged in subsequent regulation, legislation, and jurisprudence. This article considers how ASP designs can affect professional autonomy, especially of frontline antibiotic stewards who are usually physicians and pharmacists.
View Article and Find Full Text PDFAnn Thorac Surg
May 2024
Department of Surgery, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Division of Thoracic Surgery, Department of Surgery, University of Pennsylvania Perelman School of Medicine Philadelphia, Pennsylvania. Electronic address:
Background: Advances in intraoperative molecular imaging (IMI) may improve surgical outcomes when resecting tumors in the lung. A single-center trial was conducted using VGT-309, a cathepsin-targeted near-infrared imaging agent that causes lung nodules to fluoresce during surgical resection. The end point of this phase 2 study was to evaluate the frequency that IMI with VGT-309 resulted in a clinically significant event (CSE): localization of pulmonary nodules, discovery of unsuspected additional cancers, or identification of positive margins.
View Article and Find Full Text PDFGenome Biol
May 2024
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.