A5077181299- Gastroesophageal reflux and treatments
- Tumors and Oncological Cases
- Helicobacter pylori-related gastroenterology studies
- Eosinophilic Esophagitis
- Genetic factors in colorectal cancer
- Histiocytic Disorders and Treatments
- Cancer Genomics and Diagnostics
- Gastrointestinal disorders and treatments
- Microscopic Colitis
- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Genetic Neurodegenerative Diseases
- Renal and related cancers
- Cardiomyopathy and Myosin Studies
- Genetic and Kidney Cyst Diseases
- Cancer Treatment and Pharmacology
- Ion Transport and Channel Regulation
- Pharmaceutical studies and practices
- Muscle Physiology and Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Mechanical Circulatory Support Devices
- Transplantation: Methods and Outcomes
- IL-33, ST2, and ILC Pathways
- Telomeres, Telomerase, and Senescence
- Diagnosis and treatment of tuberculosis
Nemours Children's Health System
2022-2024
Alfred I. duPont Hospital for Children
2008-2020
Dupont Hospital
2007-2017
DuPont (United States)
2008-2017
University of Pennsylvania
2008
Philadelphia University
2008
Thomas Jefferson University
2008
Children's Hospital of Philadelphia
2008
Nemours Children’s Clinic
2008
Nemours Children's Clinic
2008
Immunohistochemical staining for anaplastic lymphoma kinase (ALK) has been described in rhabdomyosarcomas (RMS), especially the alveolar subtype. Previous studies have yielded conflicting results regarding pattern of (nuclear versus cytoplasmic), and there no correlation with PAX3–7/FKHR fusion status. This study was undertaken to evaluate ALK receptor protein expression a large series RMS; correlate these status; investigate possibility 2p23 amplification or translocation using fluorescence...
Glypican-3 (GPC3) is a proteoglycan thought to play an important role during development. Germline GPC3 mutations are seen in the rare Simpson-Golabi-Behmel syndrome (SGBS), which predisposes patients Wilms tumor, hepatoblastoma, and neuroblastoma. While numerous adult tumors have been evaluated by immunohistochemistry for GPC3, no comprehensive assessment has done pediatric tumors. We therefore investigated expression 143 central nervous system (CNS) 271 non-CNS Among tumors, was 9/9 (100%)...
Generation of orthotopic xenograft mouse models leukemia is important to understand the mechanisms leukemogenesis, cancer progression, its cross talk with bone marrow microenvironment, and for preclinical evaluation drugs. In these models, following intravenous injection, leukemic cells home proliferate there before infiltrating other organs, such as spleen, liver, central nervous system. Moreover, have been shown accurately recapitulate human disease correlate patient response therapy...
Abstract Esophageal pH monitoring remains a primary diagnostic tool for detecting gastroesophageal reflux disease (GERD). GERD that is refractory to proton pump inhibitor (PPI) medications may be related CYP2C19 variants. Current PPI dosing practices in children do not take into account allelic variants, which lead underdosing and subsequently misperception of therapy failure. We hypothesized probe acid exposure outcomes associate with * 17 alleles among clinical concern GERD. identified...
Gastrointestinal tract–secreted satiety hormones play a significant role in one of the largest health-care challenges for children and adults, obesity. Recent studies mice identified novel uroguanylin, endogenous intestinal hormone that binds guanylyl cyclase C (GUCY2C), regulating via gut-brain signaling pathway. Mice bred without GUCY2C receptors over-ate developed We hypothesized uroguanylin expression pediatric patients with obesity would be lower than obesity, we attempted to examine...
EWSR1 fusions are highly promiscuous and associated with unique malignancies, clinical phenotypes, molecular subtypes. However, rare fusion partners (RFP) of has not been well described. Here, we conducted a cross-sectional, retrospective study 1,140 tumors harboring fusions. We identified 64 partners. RFPs were more often in adults than children. Alterations cell cycle control DNA damage response genes as driving the differences between Potentially clinically actionable genomic variants...
Central nervous system involvement occurs in as many twenty percent of Takayasu arteritis cases. When central disease is present, it typically manifests cerebral ischemia or stroke. There are rare reports intracranial aneurysms adults with arteritis, but none children.We describe a case an 18 month old girl who presented ruptured aneurysm. Full body magnetic resonance angiography revealed bilateral iliac, pelvic and intragluteal aneurysms, irregular terminal aorta, stenotic renal arteries....
Abstract This case study presents a report of inflammatory pseudotumor the inner ear in child, discusses radiographic findings and clinical management, reviews current literature on this rare disease. A 2.5‐year‐old presented with otalgia, transient vertigo, fluctuating facial palsy partially responsive to myringotomy tube. Work‐up for infectious neoplastic processes was negative. Computed tomography (CT) temporal bone showed very unusual, expansile, erosive appearance otic capsule, magnetic...
Abstract Objectives The incidence of eosinophilic esophagitis (EoE) is 3−5 times greater in patients with inflammatory bowel disease (IBD) compared the general population. This study aimed to differentiate true EoE from esophageal eosinophilia IBD by evaluating expression major basic protein (MBP) and interleukin‐13 (IL‐13) biopsies. Methods retrospective included subjects who had an esophagogastroduodenoscopy biopsies for work up or suspicion EoE. Patients were classified into 5 groups: ≥15...
Liver transplantation for unresectable, benign hepatic lesions is rare. Hepatic mesenchymal hamartomas (HMH) are benign, cystic tumors that arise mostly in pediatric populations and can cause compressive symptoms. HMH rarely associated with placental dysplasia (PMD) Beckwith-Wiedemann syndrome (BWS). Treatment complete excision due to the risk of rapid growth, recurrence, malignant transformation. Very so diffuse required.
Objective: To demonstrate the importance of chest radiography and special anesthetic management in children with massive cervical adenopathy. Method: Case report an 8-month-old infant who presented to emergency department fever, drooling, mediastinal Safe allowed for lymph node biopsy, which showed Langerhans cell histiocytosis. Results: Chest imaging techniques (intravenous anesthesia positioning lateral decubitus position) should be considered Conclusions: Interdisciplinary airway,...
Purpose: Collagenous colitis is usually diagnosed in adults, with normal appearance on endoscopy and rarely associated small bowel inflammation. In pediatrics there are less than 10 reported cases. We report a case of collagenous gastroenterocolitis (C-GEC) 2-yr-old boy cerebellar ataxia. He had 2-mo history watery stools weight loss, 1 mo emesis fevers. Loperamide, restriction lactose refined sugar did not alter the diarrhea. Initial studies showed low sodium albumin, anemia, elevated ESR....
CASE: We present an 8 year old boy with history of periumbilical abdominal pain, intermittent diarrhea, and a 4 month, 9 lb weight loss. An EGD colonoscopy ileum intubation appeared normal histology which revealed chronic gastritis acute ileitis. Labs were notable for anemia 9.7 g/dL, thrombocytosis 531 K/UL, mild elevation ESR 25 mm CRP 34.2 mg/L. One month later he had persistent worsening loss, labs significant (8.8 g/dL), inflammatory markers (CRP 126 mg/L, 92 mm, elevated fecal...