A5049610675- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- RNA Research and Splicing
- Childhood Cancer Survivors' Quality of Life
- Hemoglobinopathies and Related Disorders
- Oral health in cancer treatment
- Lung Cancer Research Studies
- Acute Lymphoblastic Leukemia research
- Cancer therapeutics and mechanisms
- RNA and protein synthesis mechanisms
- Venous Thromboembolism Diagnosis and Management
- Microscopic Colitis
- Iron Metabolism and Disorders
- PI3K/AKT/mTOR signaling in cancer
- Vascular Tumors and Angiosarcomas
- Parvovirus B19 Infection Studies
- Retinal and Optic Conditions
- Neurological Complications and Syndromes
- Immune Cell Function and Interaction
- Vasculitis and related conditions
- Blood groups and transfusion
- Heme Oxygenase-1 and Carbon Monoxide
- Neuroblastoma Research and Treatments
- Clostridium difficile and Clostridium perfringens research
- Vascular Malformations and Hemangiomas
Children's Medical Center
2024
University of Washington
2023
Seattle Children's Hospital
2020-2023
Cincinnati Children's Hospital Medical Center
2017-2020
Center for Cancer and Blood Disorders
2020
University of Cincinnati Medical Center
2019
Children's Hospital of Philadelphia
2015-2017
University of Pennsylvania
2017
Pediatrics and Genetics
2017
Abstract Despite growing awareness of the biologic features underlying MLL-rearranged leukemia, targeted therapies for this leukemia have remained elusive and clinical outcomes remain dismal. MBNL1, a protein involved in alternative splicing, is consistently overexpressed leukemias. We found that MBNL1 loss significantly impairs propagation murine human vitro vivo. Through transcriptomic profiling our experimental systems, we show leukemic cells, regulates splicing (predominantly intron...
Hemophagocytic lymphohistiocytosis (HLH) is characterized by dysregulated immune activation. Primary HLH involves hereditary deficits in cytotoxic lymphocytes while secondary triggered extrinsic factors. The HLH-2004 criteria are widely used for clinical diagnosis, yet their specificity or ability to differentiate primary from disease unclear, potentially leading inappropriate treatment. We describe several cases where fulfillment of obscured the diagnoses underlying malignancies and delayed...
The Practice Guidelines Committee of the American Society for Transplantation and Cellular Therapy partnered with its Transplant Infectious Disease Special Interest Group to update 2009 compendium-style infectious disease guidelines hematopoietic cell transplantation (HCT). A completely new approach was taken goal better serving clinical providers by publishing each standalone topic in series as a concise format frequently asked questions (FAQ), tables, figures. Adult pediatric HCT content...
PURPOSE The optimal management of fever without severe neutropenia (absolute neutrophil count [ANC] ≥500/µL) in pediatric patients with cancer is undefined. previously proposed Esbenshade Vanderbilt (EsVan) models accurately predict bacterial bloodstream infections (BSIs) this population and provide risk stratification to aid management, but have lacked prospective external validation. MATERIALS AND METHODS Episodes a central venous catheter ANC ≥500/µL occurring were prospectively collected...
Behcet disease is a potentially life-threatening multisystemic vasculitis with thrombotic tendency. Mucocutaneous ulcers, arthritis, and uveitis are the most recognizable features, but may be absent at time of medical evaluation. We report case in which 8-year old patient presented spontaneous bilateral lower extremity deep venous thromboses, screening for rheumatologic symptoms led to diagnosing Behcet. This demonstrates that thromboses can initial event bringing attention, highlighting...
Abstract Germline PTEN (phosphatase and tensin homolog) mutations lead to inappropriate cell survival growth, a predisposition multiple cancers. Some patients also have vascular anomalies (VAs), it is unclear whether these different phenotypes or oncologic risks. We conducted two‐institution retrospective cohort study better understand the of children young adults with mutations, compare individuals VA those without. Almost half had thyroid tumors nearly one quarter developed...
An 11-year-old female known to be heterozygous for hemoglobin (Hb) Southampton (Casper) presented with painless loss of vision in her left eye. She reported no light perception eye upon waking that morning. Within 2 hours, she was able perceive motion and had relative sparing the inferior nasal visual fields. Ophthalmologic examination 3 hours after showed a normal fundus patent vasculature, extraocular movements were full without pain, pupils constricted equally direct indirect (no afferent...
The thalassemias are genetically complex and usually autosomal recessive. We describe 5 unrelated individuals with non–transfusion-dependent β-thalassemia (NTDT), some apparently dominant transmission, because of a single mutation coinherited triplicated α-globin locus. Each had an initial, incorrect diagnosis trait. correct NTDT was made at mean 7 years age. Despite reports this compound genotype causing NTDT, it remains unfamiliar to many clinicians. To increase awareness, we highlight its...
Abstract Background At diagnosis, there are prognostic implications of low‐level leukemic blasts (CNS 2) in the cerebrospinal fluid (CSF) patients with acute lymphoblastic leukemia (ALL). However, significance post‐induction CNS 2 results and impact equipment on prevalence have not been well studied. Procedure A single‐institution retrospective cohort study was conducted to analyze outcome ≥1 2. subanalysis compared proportion CSF using different cytocentrifuges; Shandon Cytospin used from...
10033 Background: In the past decade there has been increased scrutiny of prognostic implications low level blasts (CNS 2) in cerebrospinal fluid (CSF) pediatric patients with acute lymphoblastic leukemia (ALL). The significance CSF is complicated by cell recovery newer cytocentrifuge machines (Huppman, et al. Am J Clin Pathol. 2012). Methods: A retrospective cohort study was conducted at Children’s Hospital Philadelphia (CHOP) to compare proportion CNS 2 results using Shandon (2005–2008)...
11514 Background: Contemporary chemotherapy-based regimens provide cures for most pediatric & AYA cancers. However, patients with relapsed/refractory malignancies, outcomes are poor imply a distinct and aggressive biology. Identifying common themes in the molecular architecture oncogenic mechanisms these is critical priority drug development. We hypothesized that signature of cancers would be independent histology. also assessed response to alteration (MA)-targeted therapies. Methods:...