A5076139377- Fetal and Pediatric Neurological Disorders
- Glioma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Neuroblastoma Research and Treatments
- Traumatic Brain Injury and Neurovascular Disturbances
- Histiocytic Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Bone Tumor Diagnosis and Treatments
- Tumors and Oncological Cases
- Radiology practices and education
- Parvovirus B19 Infection Studies
- Cardiac Arrest and Resuscitation
- Genetic Syndromes and Imprinting
- Teratomas and Epidermoid Cysts
- Neonatal and fetal brain pathology
- Vascular Malformations Diagnosis and Treatment
- Head and Neck Surgical Oncology
- Ultrasound in Clinical Applications
- Head and Neck Anomalies
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Retinoids in leukemia and cellular processes
- Central Venous Catheters and Hemodialysis
- interferon and immune responses
- Neurological Complications and Syndromes
Children's Hospital of Philadelphia
2015-2024
Monroe Carell Jr. Children's Hospital
2024
Phoenix Children's Hospital
2024
University of Pennsylvania
2011-2023
Philadelphia University
2011-2016
New York University
1995
ABSTRACT Allogeneic hematopoietic stem-cell transplantation (alloHSCT) survivors treated with total body irradiation (TBI) exhibit bone deficits and excess adiposity, potentially related to altered mesenchymal stem cell differentiation into osteoblasts or adipocytes. We examined associations among fat distribution, microarchitecture, insulin resistance in alloHSCT after TBI. This was a cross-sectional observational study of 25 (aged 12 years) median 9.7 (4.3 19.3) years compared age-, race-,...
Abstract Context Hypothalamic obesity is a rare, treatment-resistant form of obesity. In preliminary studies, the hypothalamic hormone oxytocin (OXT) has shown promise as potential weight loss therapy. Objective To determine whether 8 weeks intranasal OXT (vs placebo) promotes in children, adolescents, and young adults with Methods This randomized, double-blind, placebo-controlled, crossover pilot trial (NCT02849743), conducted at an outpatient academic medical center, included patients aged...
Abstract The family of juvenile xanthogranuloma neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although BRAF V600E mutation constitutes majority molecular alterations in ECD LCH, only three reported JXG neoplasms, all male pediatric patients localized central nervous system (CNS) involvement, known to harbor mutation. This retrospective case series seeks...
Head CT after out-of-hospital cardiac arrest is often obtained to evaluate intracranial pathology. Among children admitted the PICU following pediatric arrest, we hypothesized that loss of gray-white matter differentiation and basilar cistern sulcal effacement are associated with mortality unfavorable neurologic outcome.Retrospective, cohort study.Single, tertiary-care center PICU.Seventy-eight patients less than 18 years old who survived admission had a head within 24 hours return...
Abstract Two Caenorhabditis elegans genes, unc-8 and sup-40, have been newly identified, by genetic criteria, as regulating ion channel function in motorneurons. dominant alleles cause motorneuron swelling similar to that of other neuronal types mutants the deg-1 gene family, which is homologous a mammalian family encoding amiloride-sensitive sodium subunits. As for previously identified members, mutations are recessively suppressed mec-6 gene, probably encodes second type component. An...
<h3>SUMMARY:</h3> Fluid-fluid levels can occur whenever different fluid densities are contained within a cystic or compartmentalized lesion, usually related to the evolution of hematoma necrosis. Review literature demonstrated that throughout skeletal system, most common etiology for fluid-fluid is aneurysmal bone cyst, but there no dedicated studies pediatric calvaria, our knowledge. In this report, we present clinicopathologic characteristics and CT MR imaging 11 patients with skull mass...
Our objective was to describe the types of providers who refer children with autism spectrum disorder (ASD) for brain magnetic resonance imaging (MRI), referral reason, and MRI results. The most common reasons were seizures (33.7%), alone (26.3%), abnormal neurologic examination or preexisting finding (24%). Neurology (62.5%), general pediatric (22.3%), developmental/behavioral practitioners (8.9%) referred patients. prevalence definite pathology highest in examination/preexisting (26.2%,...
<h3>BACKGROUND AND PURPOSE:</h3> Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the <i>NSD1</i> gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, corpus callosal dysmorphism are typical neuroimaging features have been described medical literature. The purpose of this study was to expand on phenotype detailed analysis large cohort patients genetically proved syndrome....
<h3>BACKGROUND AND PURPOSE:</h3> Pathogenic variants in the <i>ACTA2</i> gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was further characterize gyral abnormalities patients pathogenic as per 2020 consensus recommendations for definition and classification of malformations cortical development. <h3>MATERIALS METHODS:</h3> We performed retrospective, multicentric review proved variants, searching presence A...
Autosomal recessive primary microcephaly (MCPH) is a rare phenotype characterized by occipitofrontal circumference (OFC) at birth measuring less than least three standard deviations (SD) below the mean [Verloes et al.; Pagnamenta al., 2012]. Individuals have reduced brain size, varied intellectual deficit without major cortical architecture abnormalities, absence of other organ malformations, and typically normal facial appearance aside from sloping forehead that may accompany small cranial...