705 results match your criteria: "Philadelphia A.R.; and the Centers for Medicare and Medicaid Services[Affiliation]"

Panel stacking is a threat to consensus statement validity.

J Clin Epidemiol

September 2024

Meta-Research Innovation Center at Stanford, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA; Department of Medicine (Stanford Prevention Research Center), Stanford University School of Medicine, Stanford, CA, USA; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA; Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, CA, USA. Electronic address:

Article Synopsis
  • Consensus statements are important in medicine and public health, but not all use solid evidence to support their claims.
  • Some statements rely on expert panels, which can be biased if many members share the same opinions or interests, especially without a thorough review of evidence.
  • A recent case about COVID-19 showed that many panel members had strong connections to groups pushing for strict COVID measures without revealing these biases, highlighting the need for clear conflicts of interest to ensure trustworthiness.
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Mechanistic insights from sleep endoscopy related to oronasal mask failures: a case report.

J Clin Sleep Med

September 2024

Department of Otorhinolaryngology - Head & Neck Surgery, University of Pennsylvania, Philadelphia, Pennsylvania.

Unlabelled: A 71-year-old male with severe obstructive sleep apnea and nasal septal deviation presented to a positive airway pressure (PAP) alternatives clinic due to persistent obstructive events on both continuous PAP and bilevel PAP therapy delivered via oronasal mask. He underwent drug-induced sleep endoscopy with PAP titration to determine the mechanism of oronasal mask failure. A nasal mask was also applied and titrated for comparison.

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Purpose: To assess the scope of U.S.-based companies advertising and administering non-Federal Drug Administration (FDA) approved cell-based therapy (herein called NFACT) for ocular conditions based on information from companies' public websites after the FDA's legal actions against specific NFACT clinics in 2018 and 2019.

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Article Synopsis
  • - Dupilumab is a monoclonal antibody used to treat conditions like asthma and atopic dermatitis, but its use in clinical trials led to recommendations against live vaccines due to safety concerns.
  • - Recent systematic reviews and an expert panel concluded that live vaccines are generally safe for patients on dupilumab and that the effectiveness of vaccines is not compromised.
  • - It is advisable for clinicians and patients to engage in shared decision-making regarding the administration of vaccines to those receiving dupilumab.
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Study Design: Retrospective cohort study.

Objective: The purpose of this study was to determine whether muscle mass and quality of the lumbar paraspinal muscles was associated with improvements in lumbar lordosis and other sagittal parameters after isolated posterior lumbar decompression surgery for lumbar spinal stenosis.

Summary Of Background Data: Individuals may develop sagittal imbalance over time, either due to degenerative changes or other spinal conditions.

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Imaging glucose metabolism with [18F]fluorodeoxyglucose positron emission tomography has transformed the diagnostic and treatment algorithms of numerous malignancies in clinical practice. The cancer phenotype, though, extends beyond dysregulation of this single pathway. Reprogramming of other pathways of metabolism, as well as altered perfusion and hypoxia, also typifies malignancy.

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Despite neurobiological overlap, alcohol use disorder (AUD) and body mass index (BMI) show minimal genetic correlation (r), possibly due to mixed directions of shared variants. We applied MiXeR to investigate shared genetic architecture between AUD and BMI, conjunctional false discovery rate (conjFDR) to detect shared loci and their directional effect, Local Analysis of (co)Variant Association (LAVA) for local r, Functional Mapping and Annotation (FUMA) to identify lead single nucleotide polymorphisms (SNPs), Genotype-Tissue Expression (GTEx) to examine tissue enrichment, and BrainXcan to assess associations with brain phenotypes. MiXeR indicated 82.

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Little is known about risk factors for central nervous system (CNS) relapse in mature T-cell and natural killer cell neoplasms (MTNKNs). We aimed to describe the clinical epidemiology of CNS relapse in patients with MTNKN and developed the CNS relapse In T-cell lymphoma Index (CITI) to predict patients at the highest risk of CNS relapse. We reviewed data from 135 patients with MTNKN and CNS relapse from 19 North American institutions.

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Purpose: To establish consensus statements on glenoid bone grafting, glenoid osteotomy, rehabilitation, return to play, and follow-up for posterior shoulder instability.

Methods: A consensus process on the treatment of posterior shoulder instability was conducted, with 71 shoulder/sports surgeons from 12 countries participating on the basis of their level of expertise in the field. Experts were assigned to 1 of 6 working groups defined by specific subtopics within posterior shoulder instability.

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Purpose: To establish consensus statements on the diagnosis, nonoperative management, and labral repair for posterior shoulder instability.

Methods: A consensus process on the treatment of posterior shoulder instability was conducted, with 71 shoulder/sports surgeons from 12 countries participating on the basis of their level of expertise in the field. Experts were assigned to 1 of 6 working groups defined by specific subtopics within posterior shoulder instability.

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Training and Comparison of nnU-Net and DeepMedic Methods for Autosegmentation of Pediatric Brain Tumors.

AJNR Am J Neuroradiol

August 2024

From the Center for Data Driven Discovery in Biomedicine (A.V., N.K., A.M.F., D.G., K.V., D.H., S.B., H.A., P.B.S., A.R., A.N., A.F.K.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Background And Purpose: Tumor segmentation is essential in surgical and treatment planning and response assessment and monitoring in pediatric brain tumors, the leading cause of cancer-related death among children. However, manual segmentation is time-consuming and has high interoperator variability, underscoring the need for more efficient methods. After training, we compared 2 deep-learning-based 3D segmentation models, DeepMedic and nnU-Net, with pediatric-specific multi-institutional brain tumor data based on multiparametric MR images.

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Gene Editing for -Associated Retinal Degeneration.

N Engl J Med

June 2024

From the Ocular Genomics Institute, Department of Ophthalmology, Mass Eye and Ear and Harvard Medical School, Boston (E.A.P., J.I.C.), and Editas Medicine, Cambridge (B.S.A., K.K., A.R., M.C.J., R.L.M.) - both in Massachusetts; the Scheie Eye Institute and the Division of Ophthalmology of the Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (T.S.A., A.M.M.); the University of Michigan Kellogg Eye Center, Ann Arbor (K.T.J.); the Bascom Palmer Eye Institute, University of Miami, Miami (B.L.L.); and the Casey Eye Institute, Oregon Health and Science University, Portland (S.T.B., A.K.L., M.E.P.).

Article Synopsis
  • The study focuses on EDIT-101, a CRISPR-based gene-editing treatment aimed at inherited retinal degeneration originating from a specific harmful genetic variant.
  • Conducted on individuals aged 3 and older, the phase 1-2 trial administered different dosages of EDIT-101 via subretinal injection to assess safety and efficacy, with a primary focus on adverse events and secondary outcomes related to visual acuity and quality of life.
  • Results indicated that no serious side effects were linked to the treatment, with notable vision improvements observed in 64% of participants, suggesting potential benefits of the gene-editing approach for those with this form of retinal degeneration.
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Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

AJNR Am J Neuroradiol

June 2024

Perelman School of Medicine (M.T.W., A.Vossough, A.W., A.Vanderver), University of Pennsylvania, Philadelphia, Pennsylvania

Background And Purpose: While classic brain MR imaging features of Alexander disease have been well-documented, lesional patterns can overlap with other leukodystrophies, especially in the early stages of the disease or in milder phenotypes. We aimed to assess the utility of a new neuroimaging sign to help increase the diagnostic specificity of Alexander disease.

Materials And Methods: A peculiar bilateral symmetric hyperintense signal on T2-weighted images affecting the medulla oblongata was identified in an index patient with type I Alexander disease.

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Alterations of the Ganglion Cell Complex in Age-Related Macular Degeneration: An Amish Eye Study Analysis.

Am J Ophthalmol

September 2024

From the Doheny Eye Institute (S.B.V., A.R.A., M.E., M.A., A.H., M.G.N., G.S., S.R.S.), University of California-Los Angeles, Los Angeles, California, USA. Electronic address:

Purpose: To compare the ganglion cell complex (GCC) thickness in eyes with age-related macular degeneration (AMD) vs healthy controls in an elderly Amish population.

Design: Prospective cross-sectional study.

Methods: This is a post hoc analysis of the family-based prospective study of Amish subjects.

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Article Synopsis
  • Peripartum cardiomyopathy (PPCM) is a pregnancy-related heart failure linked with preeclampsia, and they may share a common biological cause triggered by factors in late pregnancy.
  • Researchers found that the senescence-associated secretory phenotype (SASP), indicating cellular aging, is significantly activated in women with PPCM or preeclampsia, particularly noting activin A's role in heart dysfunction severity.
  • In studies involving mice, blocking activin A signaling improved heart function postpartum, and using the senolytic compound fisetin during late pregnancy helped enhance cardiac performance, highlighting the connection between aging cells and heart issues during pregnancy.
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Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression.

Cell Cycle

February 2024

Department of Pharmaceutical Sciences, Philadelphia College of Pharmacy, Saint Joseph's University, Pharmacology and Toxicology Center (PTC), Philadelphia, PA, USA.

Triple negative breast cancer (TNBC) is known for its heterogeneous nature and aggressive onset. The unresponsiveness to hormone therapies and immunotherapy and the toxicity of chemotherapeutics account for the limited treatment options for TNBC. Ion channels have emerged as possible therapeutic candidates for cancer therapy, but little is known about how ligand gated ion channels, specifically, GABA type A ligand-gated ion channel receptors (GABAR), affect cancer pathogenesis.

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Buffering Mechanism in Aortic Arch Artery Formation and Congenital Heart Disease.

Circ Res

May 2024

Department of Cell Biology and Molecular Medicine (A.R., C.A.V., H.Z., S.A.), New Jersey Medical School, Rutgers Biomedical and Health Sciences, Newark.

Background: The resiliency of embryonic development to genetic and environmental perturbations has been long appreciated; however, little is known about the mechanisms underlying the robustness of developmental processes. Aberrations resulting in neonatal lethality are exemplified by congenital heart disease arising from defective morphogenesis of pharyngeal arch arteries (PAAs) and their derivatives.

Methods: Mouse genetics, lineage tracing, confocal microscopy, and quantitative image analyses were used to investigate mechanisms of PAA formation and repair.

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Open Peer Review Reports: A Pilot Project in ®.

Neurology

May 2024

From the American Academy of Neurology (P.K.B., K.M.P., S.L.Q., A.R.), Minneapolis, MN; Department of Radiology and Nuclear Medicine (F.B.), VU University Medical Centre, Amsterdam, the Netherlands; Queen Square Institute of Neurology and Centre for Medical Image Computing (F.B.), University College London, United Kingdom; Larner College of Medicine (R.B.), University of Vermont, Burlington, VT; Department of Neurology (B.C.C.), Veterans Affairs Ann Arbor Health System, MI; Department of Neuroinflammation (O.C.), Institute of Neurology, University College London, United Kingdom; Department of Neurology (P.H.), University of Louisville, KY; University of Oklahoma Health Sciences Center (L.A.H.), Oklahoma City; Dartmouth-Hitchcock Epilepsy Center and Department of Neurology (B.C.J.), Dartmouth-Hitchcock Medical Center, Lebanon, NH; Department of Neurology (A.L.S.), Division of Neurocritical Care Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia; Department of Neurology (B.B.W.), University of Virginia, Charlottesville; Neurology and Neurological Sciences (C.J.W.), Pediatrics Neonatal Medicine, Neurocritical Care Neurology, Lucile Packard Children's Hospital Neuro NICU, Division of Child Neurology, Stanford, CA; and Department of Neurology (J.G.M.), Georgetown University School of Medicine, MedStar Georgetown University Hospital, Washington, DC.

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To close or not to close? Wound management in emergent colorectal surgery, an EAST multicenter prospective cohort study.

J Trauma Acute Care Surg

July 2024

From the Anne Arundel Medical Center and Doctors Community Medical Center (C.B.F., S.R., R.A., J.R.K., J.T.), Luminis Health, Annapolis, Maryland; Cooper University Hospital (N.B., E.M.K.), Camden, New Jersey; Maine Medical Center (D.C.C., C.R.F.), Portland, Maine; Yale New Haven Hospital (B.B., A.A.M.), New Haven, Connecticut; Crozer Chester Medical Center (S.S., A.R.), Upland; Hospital of the University of Pennsylvania (G.A.B., J.L.P.), Philadelphia, Pennsylvania; University of Texas Southwestern Medical Center (D.B.), Dallas, Texas; Loma Linda University Medical Center (D.S., N.W.), Loma Linda, California; Jackson Memorial Hospital (J.L., B.N.), University of Miami, Miami, Florida; St. Mary's Medical Center (F.A., L.A.T.), Florida Atlantic University, West Palm Beach, Florida; University of California at Irvine Health (J.N., M.M.), Orange; Zuckerberg San Francisco General Hospital (R.T., S.B.K.), UCSF, San Francisco, California; Medical City Plano (M.C.), Envision Health, Plano, Texas; OhioHealth Grant Medical Center (M.K., K.S.), Columbus, Ohio; and Texas Tech University Health Science Center (A.P.S.), Lubbock, Texas.

Background: This study aimed to determine the clinical impact of wound management technique on surgical site infection (SSI), hospital length of stay (LOS), and mortality in emergent colorectal surgery.

Methods: A prospective observational study (2021-2023) of urgent or emergent colorectal surgery patients at 15 institutions was conducted. Pediatric patients and traumatic colorectal injuries were excluded.

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Intrathecal Gene Therapy for Giant Axonal Neuropathy.

N Engl J Med

March 2024

From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.).

Background: Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in , the gene encoding gigaxonin.

Methods: We conducted an intrathecal dose-escalation study of scAAV9/JeT-GAN (a self-complementary adeno-associated virus-based gene therapy containing the transgene) in children with giant axonal neuropathy. Safety was the primary end point.

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Study Design: Retrospective cohort study.

Objective: The purpose of this study is to investigate whether weekday lumbar spine fusion surgery has an impact on surgical and inpatient physical therapy (PT) outcomes.

Summary Of Background Data: Timing of surgery has been implicated as a factor that may impact outcomes after spine surgery.

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Article Synopsis
  • Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are rare genetic conditions linked to pathogenic changes in GPI-AP genes, affecting multiple body systems and often presenting with severe neurological symptoms.
  • A study analyzed 83 individuals from 75 families with IGDs, revealing that core symptoms include developmental delays (90%), seizures (83%), and motor issues (64%), along with significant brain imaging findings like cerebral atrophy in 75% of cases.
  • The research highlights a wide range of phenotypic diversity, with no single dysmorphic feature being very common, and notes that individuals with certain genetic variants experience seizures earlier, indicating differences in prognosis based on genetic factors.
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Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).

Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).

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-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.

Circ Arrhythm Electrophysiol

April 2024

Mindich Child Health & Development Institute (N.A.R., N.P., S.N., A.G.A., M.R., B.D.G.), Icahn School of Medicine at Mount Sinai, New York, NY.

Background: Germline gain-of-function pathogenic variants cause Costello syndrome (CS). During early childhood, 50% of patients develop multifocal atrial tachycardia, a treatment-resistant tachyarrhythmia of unknown pathogenesis. This study investigated how overactive HRAS activity triggers arrhythmogenesis in atrial-like cardiomyocytes (ACMs) derived from human-induced pluripotent stem cells bearing CS-associated variants.

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