A5059770942- Acute Myeloid Leukemia Research
- Lymphoma Diagnosis and Treatment
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Histiocytic Disorders and Treatments
- Viral-associated cancers and disorders
- Immune Cell Function and Interaction
- Chronic Myeloid Leukemia Treatments
- Organ and Tissue Transplantation Research
- Parvovirus B19 Infection Studies
- Eosinophilic Disorders and Syndromes
- Reconstructive Surgery and Microvascular Techniques
- Hematopoietic Stem Cell Transplantation
- COVID-19 Clinical Research Studies
- Tumors and Oncological Cases
- SARS-CoV-2 and COVID-19 Research
- Organ Donation and Transplantation
- CNS Lymphoma Diagnosis and Treatment
- Dermatological and COVID-19 studies
- Cutaneous lymphoproliferative disorders research
- Tracheal and airway disorders
- CAR-T cell therapy research
- Photoreceptor and optogenetics research
- Adrenal and Paraganglionic Tumors
Brigham and Women's Hospital
2021-2025
Harvard University
2021-2025
Imperial College Healthcare NHS Trust
2025
University of Pennsylvania
2012-2022
Massachusetts General Hospital
2020
Hospital of the University of Pennsylvania
2016-2020
Penn Presbyterian Medical Center
2012-2017
The GUCY2D gene encodes retinal membrane guanylyl cyclase (RetGC1), a key component of the phototransduction machinery in photoreceptors. Mutations cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human blinding disease. effects RetGC1 deficiency on rod and cone photoreceptor structure function are currently unknown. To move LCA1 closer to clinical trials, we characterized cohort patients (ages 6 months—37 years) with mutations. In vivo analyses architecture indicated...
To investigate the relationship between photoreceptor layers overlying and adjacent to large drusen in intermediate nonneovascular AMD.Patients with AMD (n = 41; aged 53-83 years) elderly control subjects without eye disease 10; 51-79 were studied spectral-domain optical coherence tomography. Characteristics of (≥125 μm) measured thickness laminae retinal regions neighboring quantified.There 750 63 eyes studied. The width sampled averaged 352 μm (SD 153) height 78 31). There was significant...
NPM1-mutated myeloid neoplasms (NPM1+ MNs) with <20% blood or bone marrow blasts are rare and have been previously shown in limited case series to exhibit an aggressive clinical course. We assembled the largest cohort of NPM1+ MN cases date (n = 45) compared it NPM1- 95) de novo acute leukemia (AML; n 119) patients. Compared MN, were associated younger age (P .007), a normal karyotype < .0001), more frequent mutations involving DNMT3A .01) PTPN11 .03), fewer ASXL1 .003), RUNX1 .0004), TP53...
Summary Rosai‐Dorfman disease (RDD) is an enigmatic histiocytic disorder classically diagnosed by a distinctive combination of pathological features: emperipolesis, or migration intact haematological cells through the voluminous cytoplasm lesional histiocytes, and expression S100 these histiocytes. The pathogenesis has long been elusive until recent detection recurrent mutually exclusive mutations in several oncogenes mitogen‐activated protein kinase (MAPK) pathway. Based on findings, we...
Histiocytic and dendritic cell neoplasms are a diverse group of tumors arising from monocytic or lineage. Whereas the genomic features for Langerhans histiocytosis Erdheim-Chester disease have been well described, other less common often aggressive in this broad category remain poorly characterized, comparison studies across World Health Organization diagnostic categories lacking.Tumor samples total 102 patient cases within four major subtypes malignant histiocytic neoplasms, including 44...
We investigated the retinal disease due to mutations in retinitis pigmentosa GTPase regulator (RPGR) gene human patients and an Rpgr conditional knockout (cko) mouse model.XLRP with RPGR-ORF15 (n = 35, ages at first visit 5-72 years) had clinical examinations, rod cone perimetry. Rpgr-cko mice, which proximal promoter exon were deleted ubiquitously, back-crossed onto a BALB/c background, studied optical coherence tomography electroretinography (ERG). Retinal histopathology was performed on...
Purpose.: The purpose of this study was to evaluate fixation location and oculomotor characteristics 15 patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations (RPE65-LCA) who underwent retinal gene therapy. Methods.: Eye movements were quantified under infrared imaging the retina while subject fixated on a stationary target. In subset patients, letter recognition performed. Cortical responses visual stimulation measured using functional magnetic resonance (fMRI) in two...
Dear Editors, Our understanding of the novel coronavirus named severe acute respiratory syndrome 2 (SARS-CoV-2), responsible for disease 2019 (COVID-19), is rapidly expanding.1 Peripheral blood count abnormalities are diverse and can include neutrophilia lymphopenia, or thrombocytopenia as well thrombocytosis.2 Although there have been several case reports small series documenting some morphological features seen in peripheral smears patients with COVID-19,3-7 larger lacking range appears to...
ABSTRACT Objectives Ultrasound is the first‐line imaging modality of pelvis in pediatric and adolescent gynecology (PAG) population. findings pre‐ postpubertal PAG patients differ from those adults. Diagnostic models for adnexal pathology have not been validated this cohort. The primary aim study was to evaluate normative incidence secondary assess performance expert opinion alone, as well using retrospective application International Ovarian Tumor Analysis (IOTA) simple rules (SRs) benign...
To characterize the tumor microenvironment of testicular germ cell tumors (GCTs) using immunohistochemical markers.Seventy-seven orchiectomies, including 36 nonmetastatic (NM) seminomas, 15 metastatic (M) 13 nonseminomatous (NSGCTs), and NSGCTs, were studied with PD-1, PD-L1, FOXP3, CD68, CD163, mismatch repair (MMR) immunohistochemistry. FOXP3+ PD-1+ tumor-infiltrating lymphocytes (TILs) tumor-associated macrophages (TAMs) expressing CD68 CD163 enumerated. PDL-1 expression was evaluated on...
Classic Hodgkin Lymphoma (cHL) is a tumor composed of rare malignant and Reed-Sternberg (HRS) cells nested within T-cell rich inflammatory immune infiltrate. cHL associated with Epstein-Barr Virus (EBV) in 25% cases. The specific contributions EBV to the pathogenesis remain largely unknown, part due technical barriers dissecting microenvironment (TME) high detail. Herein, we applied multiplexed ion beam imaging (MIBI) spatial pro-teomics on 6 EBV-positive 14 EBV-negative samples. We identify...
The advent of spatial transcriptomics and proteomics have enabled profound insights into tissue organization to provide systems-level understanding diseases. Both technologies currently remain largely independent, emerging same slide multi-omics approaches are generally limited in plex, resolution, analytical approaches. We introduce IN-situ DEtailed Phenotyping To High-resolution (IN-DEPTH), a streamlined resource-effective approach compatible with various platforms. This iterative first...
To investigate the relationship of drusen and photoreceptor abnormalities in African-American (AA) patients with intermediate non-neovascular age-related macular degeneration (AMD).AA AMD (n = 11; age 52-77 years) were studied spectral-domain optical coherence tomography. Macular location characteristics large (≥125 µm) determined. Thickness laminae was quantified overlying other regions. A patient advanced (age 87) included to illustrate disease spectrum.In this AA cohort, spectrum changes...
Abstract Objectives Targeted therapies for blastic plasmacytoid dendritic cell neoplasm (BPDCN) have presented a diagnostic dilemma differentiating residual BPDCN from reactive cells (pDCs) because these conditions similar immunoprofile, necessitating discovery of additional markers. Methods Fifty cases involving bone marrow (26/50) and skin (24/50) as well other hematologic malignancies (67) nonneoplastic samples (37) were included. Slides stained using double-staining protocol the...
Purpose: To evaluate whether a practical method of imaging lenticular autofluorescence (AF) can provide an individualized measure correlated with age-related lens yellowing in older subjects undergoing tests involving shorter wavelength lights. Methods: Lenticular AF was imaged 488-nm excitation using confocal scanning laser ophthalmoscope (cSLO) routinely used for retinal imaging. There were 75 (ages 47–87) at two sites; small cohort younger served as controls. At one site, the cSLO...
The present study investigated the case of a 46‑year‑old female with primary malignant perivascular epithelioid cell neoplasm (PEComa) femur. patient presented 5‑month history right distal thigh pain following trauma. Radiographs femur revealed mixed lytic and sclerotic lesion subtle areas cortical destruction soft tissue extension, consistent an aggressive tumor. A core biopsy tumor granular features, but definitive diagnosis could not be made. Due to features on radiologic evaluation,...