A5066784510- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Glioma Diagnosis and Treatment
- Congenital gastrointestinal and neural anomalies
- Vascular Malformations and Hemangiomas
- Chromatin Remodeling and Cancer
- Dermatological diseases and infestations
- Meningioma and schwannoma management
- Bone Tumor Diagnosis and Treatments
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Clinical Laboratory Practices and Quality Control
- Medical Imaging and Pathology Studies
- Congenital Anomalies and Fetal Surgery
- Vascular Malformations Diagnosis and Treatment
- Intestinal Malrotation and Obstruction Disorders
- Head and Neck Surgical Oncology
- Innovations in Medical Education
- Congenital Ear and Nasal Anomalies
- Gestational Trophoblastic Disease Studies
- Allergic Rhinitis and Sensitization
- Histiocytic Disorders and Treatments
- Vascular Anomalies and Treatments
- Tumors and Oncological Cases
- Sharing Economy and Platforms
University of Utah
2015-2025
Primary Children's Hospital
2010-2025
Huntsman Cancer Institute
2024
Adult and Pediatric Dermatology
2021
Vanderbilt University
2009
Southampton General Hospital
1999
Lipoblastoma (LPB) is a benign neoplasm that occurs predominantly in early childhood. We investigated clinicopathologic features, associated conditions, immunohistochemistry, and outcome 59 LPB identified from surgical pathology consultation files. Pathology materials, cytogenetics reports, medical records were reviewed. Immunohistochemistry for S100 protein, CD34, Mib-1 was performed on formalin-fixed, paraffin-embedded tissue using standard techniques. Fifty-nine patients had 74 samples,...
Abstract “Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant” is a recently described tumor entity of the central nervous system with predilection for origin in septum pellucidum and defining dinucleotide mutation at codon 385 oncogene replacing lysine either leucine or isoleucine (p.K385L/I). Clinical outcomes optimal treatment this new have yet to be defined. Here, we report comprehensive clinical, radiologic, histopathologic assessment eight cases. In addition its stereotypic location...
Background and Objectives While convention defines atypical neurofibroma as benign low-grade malignant peripheral nerve sheath tumors (MPNSTs) malignant, sparse outcomes data exist for these tumors. This study reviews clinical of surgically resected MPNST neurofibroma, focusing on the effect surgical margins outcome. Methods is a retrospective review 23 patients who underwent resection or neurofibroma. Treatment characteristics adjuvant therapy margin were noted. Endpoints local recurrence,...
ABSTRACT Bacterial flagellar motors obtain energy for rotation from the membrane gradient of protons or, in some species, sodium ions. The molecular mechanism is not understood. MotA and MotB are integral proteins that function proton conduction believed to form stator motor. Previous mutational studies identified two conserved proline residues (Pro 173 Pro 222 protein Escherichia coli ) a aspartic acid residue (Asp 32) important function. Asp 32 probably forms part path through To learn...
Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit loss-of-function variations in HHT causative genes, ENG ACVRL1, have been described dermal telangiectasias. It is unclear if somatic mutations also cause formation AVMs nasal telangiectasias HHT. To investigate genetic mechanism AVM HHT, we evaluated multiple affected tissues from fourteen individuals. DNA was extracted fresh/frozen tissue 15...
Abstract Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutation in the type collagen gene ( COL2A1 ). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from same couple with gross, radiologic, microscopic findings of ACG2. Molecular analysis second infant demonstrated heterozygosity for c.2303G > A transition (p.Gly768Asp) exon 33 gene. Although this could not be proven molecular studies first...
Introduction Recent publications have questioned the sensitivity of suction rectal biopsy (SRB) for diagnosis Hirschsprung's disease (HD) in newborns. A recent European survey reported that 39% pediatric surgeons performed full-thickness transanal biopsies due to concerns about accuracy SRB. We sought examine our contemporary SRB experience infants. Materials and Methods review was (2007–2016) patients under 6 months age who had a at children's hospital. The cohort subdivided by...
// Jamie D. Gardiner 1, * , Lisa M. Abegglen Xiaomeng Huang 1 Bryce E. Carter 2 Elizabeth A. Schackmann Marcus Stucki Christian N. Paxton 3 R. Lor Randall 4 James F. Amatruda 5 Angelica Putnam 6 Heinrich Kovar 7 Stephen L. Lessnick 8 Joshua Schiffman Department of Pediatrics, Huntsman Cancer Institute, University Utah, Salt Lake City, UT, USA School Medicine, ARUP Institute for Clinical and Experimental Pathology ® Orthopaedic Surgery, Sarcoma Services, Internal Medicine Molecular Biology,...
Cryptophthalmos may be partial or complete, unilateral bilateral, apparently nonsyndromal syndromal. A recent study of 2 stillborn infants at the University Utah prompted an analysis developmental aspects syndromal form (Fraser syndrome). We conclude that, per se, cryptophthalmos is a field defect on basis heterogeneity (autosomal dominant and recessive forms) phylogeneity (occurrence also in pheasant, rabbit, pigeon, dog, mouse). In humans this autosomal disorder maps to 4q21, homologous...
Composite pleomorphic xanthoastrocytoma-ganglioglioma (PXA-GG) is an extremely rare central nervous system neoplasm with 2 distinct but intermingled components. Whether this tumor represents a "collision tumor" of separate neoplasms or monoclonal divergent evolution poorly understood. Clinicopathologic studies and capture-based next generation sequencing were performed on extracted DNA from all available PXA-GG at medical centers. Five diagnosed in 1 male 4 female patients ranging 13 to 25...
Developmental venous anomalies (DVAs) are clinically benign, low-flow vascular malformations that classically hemorrhage only when associated with a cerebral cavernous malformation. It is very rare for an isolated DVA to hemorrhage. Resection of the generally contraindicated because high risk infarct. We present case large symptomatic stemming from DVA. The hematoma was evacuated and hemorrhagic portion resected. This demonstrates in circumstances, careful resection can successfully treat DVAs.
Medical practice requires physicians to have a broad understanding of the basic sciences, competent clinical skills, and an ability in evolving health systems cost-effective evidence-based manner. Essential medicine is common laboratory tests use them effectively. The Laboratory Tests for Education (ELTME) concise document explaining pathophysiology context each test was developed response expressed need from medical students, residents fellows, educators. ELTME linked Pathology Competencies...
Juvenile xanthogranuloma, a benign, non-Langerhans histiocytic proliferation, is frequently seen in infants and children. The etiology unknown, although it may represent reactive process. A variety of diseases, including neurofibromatosis type 1 juvenile chronic myelogenous leukemia, be associated with patients this combination findings require special management. In children, approximately 5% xanthogranulomas involve extracutaneous sites. This case review provides detailed discussion the...
A patient with alveolar capillary dysplasia has survived more than 56 months medical therapy. Intrauterine exposure to metformin potentially modified the severity of disease. In combination other agents, endothelin receptor antagonists and amlodipine have been key medications in lowering pulmonary arterial pressure managing right heart failure. (Level Difficulty: Beginner.)
Premature closure of the foramen ovale is a rare and deleterious condition that can occur as an isolated defect or in association with other congenital cardiovascular anomalies. We report on pathologic findings 22-week stillborn male fetus premature ovale, severe aortic valve stenosis, cardiomegaly, intact atrial ventricular septa, hypoplasia ascending aorta, hypoplastic arch preductal coarctation ridge. To best our knowledge, this only second constellation complex cardiac defects.