A5103258043- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Breast Cancer Treatment Studies
- Genomic variations and chromosomal abnormalities
- Advanced Proteomics Techniques and Applications
- Genetic factors in colorectal cancer
- Cardiovascular Function and Risk Factors
- Cancer-related molecular mechanisms research
- Cancer Cells and Metastasis
- RNA modifications and cancer
- Nail Diseases and Treatments
- Dermatology and Skin Diseases
- Cancer, Lipids, and Metabolism
- Cancer Immunotherapy and Biomarkers
- Ferroptosis and cancer prognosis
- T-cell and B-cell Immunology
- Gene expression and cancer classification
- Cardiac Imaging and Diagnostics
- Chemotherapy-induced cardiotoxicity and mitigation
- BRCA gene mutations in cancer
- Inflammatory Myopathies and Dermatomyositis
- Galectins and Cancer Biology
- Cell death mechanisms and regulation
- Cancer Diagnosis and Treatment
- Cutaneous lymphoproliferative disorders research
Boston Children's Hospital
2012-2024
Windber Research Institute
2012-2024
Harvard University
2012-2024
Advocate Children's Hospital
2022
Brown University
2019-2020
Rhode Island Hospital
2019
University of Massachusetts Chan Medical School
2012-2017
Henry M. Jackson Foundation
2012
Walter Reed National Military Medical Center
2012
Dartmouth–Hitchcock Medical Center
2010
Abstract Background Echocardiographic left atrial (LA) strain parameters have been associated with fibrillation (AF) in prior studies. Our goal was to determine if measures [peak systolic longitudinal (LAS) and stiffness index (LASt)] changed after cardioversion (CV); their relation AF recurrence. Methods results 46 participants persistent 41 age-matched no were recruited. LAS LASt measured before immediately CV using 2D speckle tracking imaging (2DSI). Maintenance of sinus rhythm assessed...
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we identified a homozygous missense mutation gene encoding base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity siblings from consanguineous family. The NEIL3 was fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function these individuals. same also an asymptomatic individual who exhibited elevated levels serum...
Abstract: Lichenoid and granulomatous dermatitis is an uncommon cutaneous reaction pattern, which combines features of lichenoid inflammatory patterns. It can represent idiopathic eruption or be associated with a variety disorders including drug reactions, hepatobiliary disorders, rheumatoid arthritis, infections, tattoo pigmented purpuric dermatosis, contact dermatitis, T-cell lymphoma. Clinical manifestations include pruritic, pink to violaceous, macules, papules, plaques, nodules, without...
Superficial cutaneous Staphylococcus aureus (S. aureus) infection in humans can lead to soft tissue infection, an important cause of morbidity and mortality. IL-17A production by skin TCRγδ+ cells response IL-1 IL-23 produced epithelial immune is for restraining S. infection. How evades this innate establish not clear. Here we show that mechanical injury mouse tape stripping predisposed mice superficial with aureus. Topical application tape-stripped caused influx basophils increased Il4...
The purpose of this investigation was to: (1) determine incidence and predictors mitoxantrone-induced early cardiotoxicity (2) study left ventricular mechanics before after receiving mitoxantrone.We retrospectively analyzed 80 subjects diagnosed with acute myeloid leukemia (AML) who underwent chemotherapy bolus high-dose mitoxantrone. Echocardiographic measurements were taken at baseline a median interval 55 days Thirty-five (44%) the patients developed clinically defined cardiotoxicity, 29...
The Wiskott-Aldrich syndrome protein (WASp) is important for actin polymerization in T cells and their migration. WASp-interacting (WIP) binds to stabilizes WASp also interacts with actin. Cytoskeletal functional defects are more severe WIP(-/-) cells, which lack WASp, than WASp(-/-) suggesting that WIP interaction may be cell cytoskeletal integrity function. We constructed mice the actin-binding domain of (WIPΔABD mice). WIPΔABD associated normally but not F-actin. from had normal levels...
Lymph node status remains one of the most useful prognostic indicators in breast cancer; however, current methods to assess nodal disrupt lymphatic system and may lead secondary complications. Identification molecular signatures discriminating lymph node-positive from node-negative primary tumors would allow for stratification patients requiring surgical assesment nodes. Primary women with negative () positive matched possible confounding factors were subjected laser microdissection gene...
The breast tumor microenvironment plays an active role in tumorigenesis. Molecular alterations have been identified tumor-associated stroma; however, there is considerable debate as to whether the stroma characterized by genomic instability or detection of chromosomal reflects technological artifact rather than true content microenvironment. Thus, specimens from 112 women undergoing reductive mammoplasty (n = 7), prophylactic mastectomy 6), for a disease 99) were frozen optimal cutting...
Abstract Background Breast cancer (BC) is the most commonly diagnosed and leading cause of death among women globally. Despite advances, there considerable variation in clinical outcomes for patients with non-luminal A tumors, classified as difficult-to-treat breast cancers (DTBC). This study aims to delineate proteogenomic landscape DTBC tumors compared luminal (LumA) tumors. Methods We retrospectively collected a total 117 untreated primary tumor specimens, focusing on subtypes. were...
Vasoactive medications are frequently used in the preoperative stage to balance pulmonary and systemic blood flow. However, not much is known about effects of these agents during this stage.The primary objective study was characterize acute vasoactive children with parallel circulation before either hybrid or Norwood procedure.This a single-center, cross-sectional, retrospective study.Hemodynamic oxygen delivery data were captured from patients' vital signs, arterial gases, near-infrared...
Background: Cross sectional studies have shown that diastolic dysfunction is prevalent and impacts mortality. Classification of function (DF) requires several Doppler variables. However, in clinical practice, pts may not necessarily concordant data, leading to confusion about classification. The issue compounded hospitalized patients, who are tachycardic limited data. Objective: aims this study were (1) determine the percentage with measurable DF (2) Methods: Data from 100 consecutive in-...
Key Clinical Message We report a case of Noonan syndrome with loose anagen hair ( NS / LAH ), rare variant syndrome, associated trichorrhexis nodosa and trichoptilosis. The SHOC 2 mutation may be responsible for these additional shaft defects, revealing the importance microscopic examination hairs in patients.
Porokeratotic adnexal ostial nevus (PAON) is a rare nonhereditary hamartoma of eccrine and hair follicle components, encompassing porokeratotic dermal duct nevus. Although PAON has been associated with other syndromes such as palmoplantar syndrome, it most commonly mosaic form keratitis-ichthyosis deafness syndrome. This due to mutations in the GJB2 gene that encodes gap junctional protein, connexin 26, which plays role keratinocyte growth differentiation.
High quality human tissue is essential for molecular research, but pre-analytical conditions encountered during collection could degrade RNA. We evaluated how prolonged exposure of non-diseased breast to ambient room temperature (22±1°C) impacted RNA quality. Breast received between 70 190 minutes after excision was immediately flash frozen (FF) or embedded in Optimal Cutting Temperature (OCT) compound upon receipt (T0). Additional pieces were further exposed increments 60 (T1 = T0+60 mins),...
Abstract Introduction: Breast cancer (BC) is classified into four widely-accepted intrinsic subtypes based on PAM (Prediction Analysis of Microarray) 50 gene expression profiles: Luminal A (LumA), B (LumB), Her2-enriched (Her2) and basal-like (Basal). Recent multi-omic studies human BC have identified many potential therapeutic biomarkers for these also revealed the extensive molecular heterogeneity disease. Patients with LumA tumors generally better outcomes because are typically...
Biomedical research depends on the availability of good quality biospecimens. Unfortunately, certain specimens are scarce due to disease rarity or size restrictions surgical materials. To increase access limited specimens, Biobanks need reassess and adjust their collection programs. We evaluated feasibility adapting "touch imprints" gain as well maximize use "precious" specimens. utilized 12 kidney samples for touch imprints defined areas microscope glass slides FTA paper. DNA was isolated...