A5090092577- Histiocytic Disorders and Treatments
- Tumors and Oncological Cases
- Viral-associated cancers and disorders
- Parvovirus B19 Infection Studies
- Renal Diseases and Glomerulopathies
- Mast cells and histamine
- Lymphoma Diagnosis and Treatment
- Platelet Disorders and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Complement system in diseases
- Extracellular vesicles in disease
- Eosinophilic Disorders and Syndromes
- Blood groups and transfusion
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Multiple Myeloma Research and Treatments
- Sarcoidosis and Beryllium Toxicity Research
- Acute Myeloid Leukemia Research
- Immunotherapy and Immune Responses
- Chronic Lymphocytic Leukemia Research
- Chemokine receptors and signaling
- Erythrocyte Function and Pathophysiology
- Tuberous Sclerosis Complex Research
- Genetic and rare skin diseases.
- Hematological disorders and diagnostics
- Hemoglobinopathies and Related Disorders
University of Alabama at Birmingham
2022-2025
Mayo Clinic in Arizona
2015-2024
Mayo Clinic
2016-2024
EMBL Australia
2024
Australian National University
2024
Mayo Clinic in Florida
2022
University of Minnesota Rochester
2021
University of Rochester
2019
The University of Texas Medical Branch at Galveston
2007-2013
Membranous nephropathy is characterized by deposition of immune complexes along the glomerular basement membrane. PLA2R and THSD7A are target antigens in 70% 1-5% primary membranous cases, respectively. In remaining antigen unknown. Here, laser microdissection glomeruli followed mass spectrometry was used to identify novel antigen(s) PLA2R-negative nephropathy. An initial pilot study 35 cases showed high spectral counts for neural tissue encoding protein with EGF-like repeats, NELL-1, six...
Significance Statement In approximately 70%–80% of cases primary membranous nephropathy (MN), phospholipase A2 receptor (PLA2R)/Thrombospondin Type-1 Domain–Containing 7A (THSD7A) and anti-PLA2R/THSD7A antibodies form immune complexes along the glomerular basement membrane (GBM) that characterize condition. other MN all secondary MN, target antigen is unknown. Using proteomics immunohistochemistry, authors detected two proteins, exostosin 1 (EXT1) 2 (EXT2), in GBM PLA2R-negative MN. EXT1...
Membranous nephropathy results from subepithelial antigen-antibody complex deposition along the glomerular basement membrane. Although PLA2R, THSD7A, and NELL-1 account for a majority (about 80%) of target antigens, antigen in remaining cases is not known. Using laser microdissection PLA2R-negative glomeruli patients with membranous followed by mass spectrometry we identified unique protein, Semaphorin 3B, three cases. Mass failed to detect Semaphorin-3B 23 PLA2R-associated 88 controls. 3B...
Rosai-Dorfman disease is a rare subtype of non-Langerhans cell histiocytosis. With the last major report published in 1990, there paucity contemporary data on this disease. Our objective was to clinicopathological features, treatments and outcomes patients seen at tertiary referral center. Sixty-four with histopathological diagnosis were identified from 1994 2017 (median age 50 years; range, 2-79). The median duration symptom onset seven months (range, 0-128), which also reflected number...
Abstract The epitranscriptome embodies many new and largely unexplored functions of RNA. A significant roadblock hindering progress in epitranscriptomics is the identification more than one modification individual transcript molecules. We address this with CHEUI (CH3 (methylation) Estimation Using Ionic current). predicts N6-methyladenosine (m6A) 5-methylcytosine (m5C) molecules from same sample, stoichiometry at reference sites, differential methylation between any two conditions. processes...
Rosai-Dorfman disease (RDD) is a rare histiocytosis with heterogenous clinical features. In this study, we characterized the histologic and phenotypic features in 33 RDD patients to better define pathologic diagnosis. Cases included 24 extracutaneous (“R” group), 9 lesions limited skin or subcutaneous tissue (“C” group). We identified OCT2 as novel marker for monocyte-macrophage phenotype of RDD, expressed 97% cases. contrast, expression was seen 0% Erdheim-Chester cases 6.7% Langerhans cell...
Significance Statement Approximately 20% of patients with lupus nephritis, the most common renal manifestation systemic erythematosus, show membranous nephritis on kidney biopsy, and nearly 10% eventually develop ESKD. Recently, two proteins, Exostosin 1 2 (EXT1/EXT2), were shown to be present in a subset biopsy specimens. In an examination 374 specimens, authors found 32.6% EXT1/EXT2-positive. Kidney specimens from EXT1/EXT2-positive showed less chronicity features (glomerulosclerosis,...
Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in Caucasian adults. Phospholipase A2 receptor (PLA2R)- and exostosin 1 (EXT1)/exostosin 2 (EXT2)-associated MN represent primary secondary forms MN. The complement profile using a proteomics approach has not been studied these MN.We used laser microdissection mass spectrometry (MS/MS) to dissect glomeruli identify glomerular proteins PLA2R-associated (n = 7), EXT1/EXT2-associated 21), 11 control cases (time 0...
True population-based clinical and outcomes data are lacking for anti-neutrophil cytoplasmic autoantibody (ANCA)-associated glomerulonephritis (AAGN). Therefore we aimed to estimate the incidence, prevalence mortality of AAGN, as well relationship between grade chronic renal damage at presentation non-renal outcomes.
Rosai-Dorfman disease (RDD) is a rare histiocytic neoplasm with recent studies showing alterations in the MAPK pathway, most commonly KRAS and MEK genes about 40% of patients. Reports on use MEK-inhibitor therapy RDD have been limited to small case studies. There are no approved treatments for this neoplasm, therefore patients need efficacious treatments.To study outcomes after treatment cobimetinib based pathway RDD.This retrospective cohort conducted at 2 tertiary care centers included who...
Abstract Objectives Rosai-Dorfman disease (RDD) is one of 3 major types histiocytosis, along with Erdheim-Chester and Langerhans cell histiocytosis. While historically, RDD was considered a benign self-limited condition, current data show MAPK/ERK pathway mutations in 30% to 50% cases, indicative clonal process. incorporated as histiocytic neoplasm the fifth edition World Health Organization classification hematopoietic tumors International Consensus Classification. Methods We discuss...
Malignant histiocytosis (MH) is an extremely rare neoplasm of the macrophage-dendritic cell lineage. We report clinical characteristics, molecular aberrations, treatments, and outcomes patients with MH seen at two referral centers from January 2000 to May 2023. identified 43 MH, which 26 had histiocytic sarcoma (MH-H), 9 interdigitating dendritic (MH-IDC), 8 Langerhans (MH-LC). The median age diagnosis was 61 years (range, 3-83). Thirty-three (77%) multifocal disease, while 10 unifocal...
Chemokine IL-8 (CXCL8) binds to its cognate receptors CXCR1 and CXCR2 induce inflammatory responses, wound healing, tumorogenesis, neuronal survival. Here we identify the N-loop residues in (H18 F21) receptor N-termini as major structural determinants regulating rate of internalization, which turn controlled activation profile ERK1/2, a central component receptor/ERK signaling pathway that dictates signal specificity. Our data further support idea chemokine core acts plastic scaffold. Thus,...
Abstract Langerhans cell histiocytosis (LCH) is a rare histiocytic neoplasm. To date, there lack of U.S. Food and Drug Administration–approved treatments in adult LCH to establish optimal first-line therapy. We conducted retrospective, single-center case series evaluating the use BRAF inhibitors patients with BRAFV600E- proven by biopsy. Our first report as therapy adults LCH. also efficacy single-agent dabrafenib All but one our had favorable response targeted
Advances in the treatment of Langerhans cell histiocytosis (LCH) have resulted a growing survivor population. There is lack data on long-term outcomes among adults with LCH. We conducted retrospective record review 219 (aged ≥18 years) Most common presentation was multisystem (34.2%), followed by single-system pulmonary (32%), unifocal (28.3%), and multifocal (5.5%) Risk organ involvement (the liver, spleen, or bone marrow) seen 8.7% cases, 40 88 (45.5%) tested cases were BRAFV600E. At...