44,193 results match your criteria: "Children's Hospital of Philadelphia; 3401 Civic Center Blvd[Affiliation]"

Objective: To evaluate factors impacting access to and timing of surgery in patients with submucous cleft palate (SMCP) and velopharyngeal dysfunction (VPD).

Study Design: Retrospective cohort study.

Setting: Single academic medical center.

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SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics.

bioRxiv

December 2024

Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, 27599, USA.

encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.

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Background And Objectives: Since the initial description of related hemiplegic migraine (HM), the phenotypic spectrum has expanded from mild episodes in neurotypical individuals to potentially life-threatening events frequently seen in individuals with developmental and epileptic encephalopathies. However, the overall longitudinal course throughout childhood remains unknown.

Methods: We analyzed HM and seizure history from electronic medical records in individuals with -related HM, delineating frequency and severity of events in monthly increments through a standardized approach.

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Purpose: Our goals were to: 1) examine the occurrence of behavioral and emotional symptoms in children on the autism spectrum in a large national sample, stratifying by sex, and 2) evaluate whether children with increased autism-related social communication deficits also experience more behavioral and emotional problems.

Methods:  Participants (n = 7,998) were from 37 cohorts from the Environmental influences on Child Health Outcomes (ECHO) Program. Cross-sectional information on demographic factors, parent-report of an ASD diagnosis by clinician, Social Responsiveness Scale (SRS) scores, and Child Behavior Checklist (CBCL) scores were obtained for children aged 2.

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Background: Three sources used for poisoning surveillance-child fatality reviews (CFRs), poison centre (PC) calls and death certificates-employ disparate data methodologies. Our study objectives were to (1) characterise the number of fatalities captured by CFRs and PC data compared with death certificates by age and (2) compare demographic and substance characteristics of fatalities captured by the three sources.

Methods: We acquired CFR data from the National Fatality Review-Case Reporting System (NFR-CRS), PC calls from the National Poison Data System (NPDS) and death certificate data from Centers for Disease Control and Prevention's Wide-ranging Online Data for Epidemiologic Research (WONDER) on poisoning fatalities among children 0-17 years old between 2005 and 2020.

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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

J Inherit Metab Dis

January 2025

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

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Purpose: This study examined the occurrence and MRI characteristics of perinatal arterial ischemic stroke (PAIS) in children with cerebral palsy (CP) and suspected term hypoxic-ischemic injury (HII).

Methods: A retrospective review of brain MRI scans was conducted on children with CP and suspected term HII in South Africa.

Results: Out of 1620 children with CP included in the study, 15 (0.

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Youth living with HIV (YLWH) have high rates of virologic failure due to medication non-adherence. is a novel, gamified mobile health (mHealth) application designed with user-centered principles to improve medication adherence by integrating medication reminders with social and financial incentives, virtual peer social support and early clinic outreach for non-adherent YLWH in Nigeria. Focus Group Discussions (FGDs) were conducted to identify reactions to key prototype features (user interface, medication reminders, incentives, and peer support), facilitators and barriers to app use, and how well the app would meet adherence needs.

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Article Synopsis
  • The study evaluated the use of continuous video-electroencephalography (cEEG) to detect seizures in infants and children in a cardiovascular intensive care unit (CVICU), emphasizing symptoms and risk factors that led to cEEG evaluations.
  • Among 605 cEEGs performed over 38 months, seizures were found in 9% of cases, with a significantly higher detection rate (30%) when both vital sign and non-vital sign symptoms were present, while isolated vital sign changes did not yield any seizures.
  • The results indicated that certain symptoms (like gaze deviation and abnormal limb movements) and risk factors (like preexisting epilepsy and recent neuroscience surgeries) were linked to a higher likelihood of seizure detection, highlighting
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Introduction: Amblyopia, the leading cause of monocular childhood vision loss, affects millions and is projected to increase. Early detection and treatment are crucial for preventing vision impairment.

Areas Covered: This commentary reviews the current state and opportunities for improvement in amblyopia screening strategy and technology focused primarily within the United States.

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Burkitt lymphoma in a child with rectal bleeding.

J Pediatr Gastroenterol Nutr

January 2025

Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.

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Ectopic Thymic Tissue Presenting as an Epiglottic Mass Compromising a Neonatal Airway: A Case Report.

Cureus

December 2024

Division of Otolaryngology, Department of Surgery, Nemours Children's Health System, Wilmington, USA.

An epiglottic mass (EM) is rarely found in neonates and poses life-threatening airway complications. We present the case of an infant urgently transferred from Belize via the World Pediatric Project with a lingual EM. The EM was misdiagnosed twice.

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Mini-clusters of postadenovirus VITT.

Res Pract Thromb Haemost

January 2025

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

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Phenotypic and genetic relationships between white matter microstructure (i.e., fractional anisotropy [FA]) and peripheral inflammatory responses (i.

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Long-term Complications From Peripheral Nerve Blocks After Pediatric Orthopaedic Lower Extremity Procedures: A Systematic Review.

Am J Sports Med

January 2025

Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA; Orthopaedic Institute for Children, Los Angeles, California, USA; Boulder Medical Center, Boulder, Colorado, USA.

Article Synopsis
  • Peripheral nerve blocks (PNBs) are commonly used in pediatric orthopedic surgery for pain management and quicker discharge, but they can lead to both short- and long-term complications.
  • A systematic review identified 16 studies (10% of those reviewed) that discussed long-term complications following PNBs in pediatric patients, with 9 reporting issues such as chronic pain, motor deficits, and reduced range of motion.
  • Overall, complications were noted in a small percentage of patients, with chronic pain occurring in 5%, strength deficits in 10%, and sensory deficits in just 0.07%.
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Factors Associated with Participation Patterns of Young Brazilian Children with Myelomeningocele.

Phys Occup Ther Pediatr

January 2025

Graduate Program in Rehabilitation Sciences, School of Physical Education, Physical Therapy and Occupational Therapy, Universidade Federal de Minas Gerais, Minas Gerais, Brazil.

Aims: To describe participation patterns and identify factors associated with participation of young Brazilian children with myelomeningocele (MMC) in their home, daycare/preschool, and community settings.

Methods: The participants were parents/caregivers of 70 children with MMC, averaging 26.7 (±17.

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A Bundled, Practice-Based Intervention to Increase HPV Vaccination.

Pediatrics

January 2025

Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Background And Objectives: Human papillomavirus (HPV) vaccination rates are suboptimal, and missed vaccination opportunities are common. We hypothesized that a bundled intervention improves missed HPV vaccination opportunities.

Methods: We used a pre-post design to assess differences in HPV vaccine missed opportunities (visits when vaccine-eligible adolescents are not vaccinated).

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Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.

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The fatal threat of carryover effects to the validity of crossover dietary trials.

Am J Clin Nutr

January 2025

Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

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Corrigendum to "Mechanical ventilation in special populations" [Seminars in Perinatology, 48(2), 2024, 151888].

Semin Perinatol

January 2025

Director of Neonatology, Guangzhou Women and Children Medical Center, Guangzhou, China; Department of Pediatrics, The Warren Alpert Medical School of Brown University, Providence, RI. Electronic address:

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The BMT CTN 1703 phase III trial confirmed that graft-versus-host disease (GVHD) prophylaxis with post-transplantation cyclophosphamide (PTCy), tacrolimus (Tac), and mycophenolate mofetil (MMF) results in superior GVHD-free, relapse-free survival (GRFS) compared with Tac/methotrexate (MTX) prophylaxis. This companion study assesses the effect of these regimens on patient-reported outcomes (PROs). Using the Lee Chronic GVHD Symptom Score and PROMIS subscales (physical function, GI symptoms, social role satisfaction) as primary end points and hemorrhagic cystitis symptoms and Lee subscales as secondary end points, responses from English and Spanish speakers were analyzed at baseline and days 100, 180, and 365 after transplant.

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Purpose: Continuous EEG (cEEG) monitoring is increasingly used in the management of neonates with seizures. There remains debate on what clinically relevant information can be gained from cEEG in neonates with suspected seizures, at high risk for seizures, or with definite seizures, as well as the use of cEEG for prognosis in a variety of conditions. In this guideline, we address these questions using American Clinical Neurophysiology Society structured methodology for clinical guideline development.

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