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The Perelman School of Medicine at the ... Publications | LitMetric

743 results match your criteria: "The Perelman School of Medicine at the University of Pennsylvania[Affiliation]"

Objectives: The primary objective of this study was to profile the childhood health, development, and health-related quality of life (HR QoL) for children with the most severe bronchopulmonary dysplasia (BPD), those discharged from a quaternary referral program.

Study Design: We collected cross-sectional data through telephone interviews with 282 families of children ages 18 months to 11 years who had been discharged from a BPD referral program.

Results: Respiratory morbidities were near universal, with 42% of children ever having required a tracheostomy and severity of these morbidities correlated with parent-reported health and QoL.

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Rationale & Objective: Tubulointerstitial damage is a feature of early chronic kidney disease (CKD), but current clinical tests capture it poorly. Urine biomarkers of tubulointerstitial health may identify risk of CKD.

Study Design: Prospective cohort (Atherosclerosis Risk in Communities [ARIC]) and case-cohort (Multi-Ethnic Study of Atherosclerosis [MESA] and Reasons for Geographic and Racial Differences in Stroke [REGARDS]).

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Depression - Advanced Treatments for Treatment-Resistant Depression.

N Engl J Med

May 2024

From the Perelman School of Medicine at the University of Pennsylvania, Philadelphia (M.C.); Massachusetts General Hospital, Boston (M.F.); and Yale School of Medicine, New Haven, CT (S.N., G.S.).

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Depression - Treatment Options and Managing Depression in Primary Care.

N Engl J Med

May 2024

From the Perelman School of Medicine at the University of Pennsylvania, Philadelphia (E.A., J.T.); Boston Medical Center (C.M.C.) and Massachusetts General Hospital (M.F., S.S.-V.) - both in Boston; and Yale School of Medicine, New Haven, CT (G.S.).

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Personalized functional networks (FNs) derived from functional magnetic resonance imaging (fMRI) data are useful for characterizing individual variations in the brain functional topography associated with the brain development, aging, and disorders. To facilitate applications of the personalized FNs with enhanced reliability and reproducibility, we develop an open-source toolbox that is user-friendly, extendable, and includes rigorous quality control (QC), featuring multiple user interfaces (graphics, command line, and a step-by-step guideline) and job-scheduling for high performance computing (HPC) clusters. Particularly, the toolbox, named personalized functional network modeling (pNet), takes fMRI inputs in either volumetric or surface type, ensuring compatibility with multiple fMRI data formats, and computes personalized FNs using two distinct modeling methods: one method optimizes the functional coherence of FNs, while the other enhances their independence.

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The Delayed Presentation and Diagnosis of Youth Wrestling Injuries: A 20-Year Analysis of National Injury Data.

J Am Acad Orthop Surg Glob Res Rev

May 2024

From the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA (Mr. Huffman, Mr. Ayotte, and Ms. Jia); the Department of Orthopaedic Surgery, Yale-New Haven Hospital, New Haven, CT (Dr. Pirruccio); the Department of Orthopaedic Surgery, Boston University Medical Center, Boston, MA (Dr. Li); the Department of Orthopaedic Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA (Dr. Kelly IV); and the Department of Orthopaedic Surgery, Mount Sinai, New York, NY (Dr. Parisien).

Article Synopsis
  • - The study investigates the issue of delayed injury presentations among middle and high school wrestlers, as many athletes tend to hide their injuries, leading to an underreporting in youth wrestling injuries.
  • - Data from the National Electronic Injury Surveillance System shows that approximately 5.6% of wrestlers presented their injuries after a delay, with most injuries occurring on Saturdays during the wrestling season.
  • - Wrestlers with delayed injury presentations were found to be less likely to have fractures or head/neck injuries, highlighting the necessity for coaches and trainers to be attentive to potential injury signs.
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Depression - Understanding, Identifying, and Diagnosing.

N Engl J Med

May 2024

From the Perelman School of Medicine at the University of Pennsylvania, Philadelphia (E.A., J.T.); Boston Medical Center (C.M.C.) and Massachusetts General Hospital (M.F., S.S.-V.) - both in Boston; and Yale School of Medicine, New Haven, CT (S.N., G.S.).

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Approach to the Neonate With Hypoglycemia.

J Clin Endocrinol Metab

August 2024

The Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

After birth, healthy neonates undergo a period of altered glucose metabolism, known as "transitional hypoglycemia." During the first 0 to 4 hours of life, the mean plasma glucose concentration decreases to 57 mg/dL, then by 72 to 96 hours of life increases to 82 mg/dL, well within the normal adult range. Recent data suggest that transitional hypoglycemia is due to persistence of the fetal beta cell's lower threshold for insulin release, resulting in a transient hyperinsulinemic state.

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We performed a qualitative review of 50 consent forms posted on Clinicaltrials.gov, examining the content of key information sections. We found that key information disclosures are typically focused on procedures, risks, potential benefits, and alternatives.

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Article Synopsis
  • The study examined the prevalence of malignant nail conditions in pediatric patients with melanonychia, hypothesizing a low rate of melanoma in those undergoing nail bed biopsies.
  • Researchers reviewed medical data from 54 patients under 18 years old who had nail bed biopsies between 2007 and 2022, analyzing demographics and pathology results.
  • Findings revealed no instances of malignant melanoma, with the most common diagnoses being benign conditions, and the only significant risk factor linked to concerning pathology was the year of biopsy performed.
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The role of psychology and neuropsychology in pediatric epilepsy surgery evaluation.

Curr Probl Pediatr Adolesc Health Care

August 2024

The Children's Hospital of Philadelphia, Section Chief, Neuropsychology & Assessment, United States. Electronic address:

Epilepsy is one of the most common neurological problems affecting 470,000 children in the United States. While most youth will achieve seizure freedom using medication, up to a third will continue to have seizures and are therefore considered to have drug-resistant epilepsy (DRE). Children and adolescents with epilepsy are at higher risk of behavioral, cognitive, and emotional disorders.

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The Consortium of Pediatric Neuro-Ophthalmologists (CPNO) and Fundamentals of Pediatric Neuro-Ophthalmology.

J Neuroophthalmol

June 2024

Neuro-ophthalmology Service, Division of Ophthalmology, Children's Hospital of Philadelphia and Division of Neuro-Ophthalmology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania; and Departments of Neurology and Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Brain

September 2024

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect ∼10 000 patients in North America and Europe alone. Pathogenic SORD loss-of-function changes in the encoded enzyme sorbitol dehydrogenase result in abnormally high sorbitol levels in cells and serum. How sorbitol accumulation leads to peripheral neuropathy remains to be elucidated.

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Neurovascular coupling is a vital mechanism employed by the cerebrovascular system, including the eye, to regulate blood flow in periods of neuronal activation. This study aims to investigate if laser speckle flowgraphy (LSFG) can detect coupling response elicited by flickering light stimuli and how variations in stimulus type and duration can affect the magnitude and evolution of blood flow in the optic nerve head (ONH) and peripapillary vessels. Healthy adults were exposed to two types of 10-Hz flicker stimuli: a photopic negative response-like stimulus (PhNR-S) or a visual evoked potential-like stimulus (VEP-S)-each presented in separate 10- and 60-s epochs.

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Many racial-ethnic minoritized individuals are repeatedly exposed to subtle actions reflecting racial slights, termed racial microaggressions (RMAs), which are associated with adjustment problems in early adult and adult populations. Early adolescence represents a unique developmental period when minoritized youth begin their racial-ethnic identity exploration and are subjected to stereotypes and prejudice, thereby making them vulnerable to RMAs. Based upon the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist, a systematic literature search, screening and review of RMA literature focusing on high schoolers and younger youth was conducted and yielded 54 publications.

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Clinicians practicing in a modern NICU are noticing an increase in the proportion of patients who undergo genetic testing as well as changes in the types of genetic testing patients receive. These trends are not surprising given the increasing recognition of the genetic causes of neonatal illness and recent advances in genetic technology. Yet, the expansion of genetic testing in the NICU also raises a number of ethical questions.

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Article Synopsis
  • Youth-onset type 2 diabetes (T2D) shows more severe symptoms and complications compared to adult-onset T2D, prompting researchers to analyze its underlying factors.
  • The study stemmed from the TODAY clinical trial, involving 398 adolescents aged 10 to 17 with T2D, who were monitored over nearly 4 years to assess the impact of growth hormone mediators on their condition.
  • Key outcomes included tracking glycemic control, insulin sensitivity, and beta cell function, with findings indicating a correlation between increasing IGF-1 levels and better management of diabetes in youth.
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Enhanced Risk Stratification for Children and Young Adults with B-Cell Acute Lymphoblastic Leukemia: A Children's Oncology Group Report.

Leukemia

April 2024

Department of Biostatistics, Colleges of Medicine, Public Health and Health Professions, University of Florida, Gainesville, FL, USA.

Article Synopsis
  • * A multivariable Cox model was developed using data from over 21,000 patients to predict relapse-free survival (RFS) and establish more precise risk groups through the COG Prognostic Index (PI).
  • * The PI effectively differentiates between low and high relapse risks and identifies specific subgroups within moderate and high-risk patients, potentially guiding more personalized treatment strategies based on their predicted outcomes.
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Background: The primary objective was to measure the proportion of episodes where care delivery was inconsistent with selected recommendations of a clinical practice guideline (CPG) on fever and neutropenia (FN) management. The influence of site size on CPG-inconsistent care delivery, and association between patient outcomes and CPG-inconsistent care were described.

Methods: This retrospective, multicenter study included patients less than 21 years old with cancer who were at high risk of poor FN outcomes and were previously enrolled to a Children's Oncology Group (COG) study at participating National Cancer Institute Community Oncology Research Program (NCORP) institutions from January 2014 through December 2015.

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Trans-sylvian peri-insular hemispherotomy represents a functional hemispherectomy with minimal brain removal used for treatment of refractory hemispheric epilepsy.1 Exposure for this procedure is achieved by craniotomy. Refinement in the hemispherotomy technique, including trends toward minimizing cortical resection, has contributed to a substantial drop in complication rates.

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Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Hum Mol Genet

April 2024

Department of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.

Article Synopsis
  • Scientists looked at how certain genes may affect breast cancer in women with African ancestry.
  • They studied 9,241 women with breast cancer and compared them to 10,193 healthy women to find links between the genes and the disease.
  • They found specific gene variations that could increase the risk of breast cancer, especially types of cancer that don't depend on estrogen.
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Peripheral Nervous System (PNS) Myelin Diseases.

Cold Spring Harb Perspect Biol

May 2024

Department of Comparative Biosciences, Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

This is a review of inherited and acquired causes of human demyelinating neuropathies and a subset of disorders that affect axon-Schwann cell interactions. Nearly all inherited demyelinating neuropathies are caused by mutations in genes that are expressed by myelinating Schwann cells, affecting diverse functions in a cell-autonomous manner. The most common acquired demyelinating neuropathies are Guillain-Barré syndrome and chronic, inflammatory demyelinating polyneuropathy, both of which are immune-mediated.

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