A5011599706- Platelet Disorders and Treatments
- Blood groups and transfusion
- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood disorders and treatments
- Hemophilia Treatment and Research
- Vascular Malformations and Hemangiomas
- Histiocytic Disorders and Treatments
- Vascular Malformations Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- Trace Elements in Health
- Neonatal Health and Biochemistry
- Acute Lymphoblastic Leukemia research
- Neurological Complications and Syndromes
- Glycosylation and Glycoproteins Research
- Cancer-related gene regulation
- Neurology and Historical Studies
- Judicial and Constitutional Studies
- Lanthanide and Transition Metal Complexes
- Mitochondrial Function and Pathology
- Intracranial Aneurysms: Treatment and Complications
- Clinical Reasoning and Diagnostic Skills
- Genetic and rare skin diseases.
- Vascular Anomalies and Treatments
- Advanced MRI Techniques and Applications
University of Wisconsin–Madison
2011-2023
University of Wisconsin Carbone Cancer Center
2019-2023
UnityPoint Health Meriter
2022
Meriter Hospital
2022
University of Ottawa
2016
University of Wisconsin American Family Children's Hospital
2016
UW Health University Hospital
2010
Howard Hughes Medical Institute
1992
University of California, San Francisco
1992
Two cases of pontine vascular malformation with a characteristic venous angiographic appearance are reported. Both patients had slowly progressive clinical course, normal spinal fluid, and evidence mass. In the late phase, large abnormal vessels were seen to coverage towards midline from each cerebellar hemisphere. The microscopically identified as teleangiectases in one cases. hematomas, originating cavernous angioma them; other exact origin bleeding could not be determined. It is concluded...
Abstract Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo‐cranio‐cutaneous lipomatosis, Schimmelpenning‐Feuerstein‐Mims syndromes, a spectrum of vascular malformations, overgrowth associated anomalies, the latter which are only recently being characterized. We describe eight individuals in total (six unreported cases two previously reported cases) with somatic variably features. Given findings (in seven individuals) or lymphatic malformations individuals), we...
MR-based quantification of liver magnetic susceptibility may enable field strength-independent measurement iron concentration (LIC). However, is challenging, due to nonlocal effects on the B0 field. The purpose this work demonstrate feasibility susceptibility-based LIC using a fat-referenced approach.
Dale E Bredesen, Kenneth Sharlin, David Jenkins, Miki Okuno, Wes Youngberg, Sharon Hausman Cohen, Anne Stefani, Ronald L Brown, Seth Conger, Craig Tanio, Ann Hathaway, Mikhail Kogan, Hagedorn, Edwin Amos, Amylee Nathaniel Bergman, Carol Diamond, Jean Lawrence, Ilene Naomi Rusk, Patricia Henry and Mary Braud-Reversal of Cognitive Decline: 100 Patients
We recently developed a novel amine-reactive mass-defect-based chemical tag, dimethyl pyrimidinyl ornithine (DiPyrO), for quantitative proteomic analysis at the MS
The purpose of this study was to ( a) determine the frequency diagnostic errors in pediatric cancer, b) categorize errors, and c) underscore themes associated with misdiagnosis. This is a retrospective cohort at tertiary children’s hospital 265 patients new oncologic diagnoses. error rate 28%. Compared those no error, whom there an were more likely have visits before diagnosis P < .001), not been seen acute care setting = .03), inappropriate treatment d) misinterpreted laboratory studies...
<h3>BACKGROUND AND PURPOSE:</h3> Intrinsic T1-hyperintense signal has recently been reported in the deep gray nuclei on brain MR imaging after multiple doses of gadolinium-based contrast agents. Most reports have included adult patients and excluded those undergoing radiation or chemotherapy. We investigated whether T1 shortening is also observed children tried to determine radiochemotherapy a risk factor for this phenomenon. <h3>MATERIALS METHODS:</h3> In single-center retrospective study,...
Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues the structure and function this large enigmatic protein. To efficiently find missense mutations, hemophiliacs with mild moderately severe forms disease were surveyed. DNA samples from affected individuals assayed for mutations denaturing gradient gel electrophoresis following amplification target regions, which included all coding regions except that dispensable B domain....
The use of mass spectrometry for protein identification and quantification in cerebrospinal fluid (CSF) is at the forefront research efforts to identify explore biomarkers early diagnosis prognosis neurologic disorders. Here we implemented a 4-plex N,N-dimethyl leucine (DiLeu) isobaric labeling strategy longitudinal study aiming investigate dynamics children with B-cell acute lymphoblastic leukemia (B-cell ALL) undergoing chemotherapy. temporal profile CSF proteome during chemotherapy...
In 2010, the American Academy of Pediatrics recommended universal screening for anemia at approximately 1 year age. This quality improvement study sought to improve in an ambulatory setting. a large university-based setting, best practice alert (BPA) was placed within electronic health record. The primary outcome overall rate family medicine (DFM) and pediatrics (PEDS) clinics. From 2545 pre-BPA clinic visits over 12-month period, 48.2%. Among 2186 post-BPA 8-month improved 72.7%, P <...
A 14-year-old boy with leukemia reported 20 minutes of numbness and weakness the left face hand. He had received an intrathecal methotrexate infusion 1 month earlier. Examination showed left-sided ataxia, which resolved within minutes. Brain MRI (figure) performed 90 after symptom onset …
Arteriovenous malformations (AVMs) are congenital vascular anomalies resulting in a direct connection between feeding arteries and draining veins. This results high-flow nidus, which is commonly progressive can become life-threatening.1 Over 90% of AVMs intracranial.2 Head neck represent almost 50% extracranial AVMs3 most occur within the face or mandible. Lingual quite rare.4
Neurologic dysfunction during acute lymphoblastic leukemia treatment is commonly associated with chemotherapy. Nonchemotherapy contributions should be considered for persistent atypical symptoms. We describe a boy who developed recurrent fevers, diarrhea, progressive ataxia, and neuropsychiatric impairment maintenance He was found to have cytomegalovirus in his serum colon, but not cerebrospinal fluid. Instead, fluid revealed oligoclonal bands present the serum, suggesting an autoimmune...
Hemoglobin Bart's usually leads to hydrops fetalis syndrome during the mid-trimester of fetal life because absolute failure α-globin chain synthesis. The affected fetuses develop severe intrauterine hypoxia due profound anemia, often with a fatal outcome. Intrauterine red blood cell transfusions can promote survival patients, but post-natal management serial and iron chelation are required sustain life. Here, we report first child Bart's, diagnosed treated in utero, who underwent successful...
Immune thrombocytopenia (ITP) is characterized by isolated of unclear etiology. We present a unique case an 8-year-old girl with chronic ITP who was subsequently diagnosed T-lymphoblastic lymphoma at age 11. The clinical course complicated the occurrence nonepileptiform events bizarre behavior changes following administration nelarabine and intrathecal high-dose systemic methotrexate. This highlights unusual co-occurrence hematologic malignancy in otherwise healthy child. speculate that...
Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case severe, oligogenic and reinterpret reportedly benign mutation that likely pathogenic. Despite this patient's synonymous (