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Dermatology

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Full-Text Articles in Medicine and Health Sciences

Phenotype-Genotype Correlations In Patients With Epidermolysis Bullosa With Plec Mutations, Elizabeth Zhang, Masoomeh Faghankani, Hassan Vahidnezhad, Jouni Uitto Jan 2020

Phenotype-Genotype Correlations In Patients With Epidermolysis Bullosa With Plec Mutations, Elizabeth Zhang, Masoomeh Faghankani, Hassan Vahidnezhad, Jouni Uitto

Phase 1

Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders characterized by blistering skin and mucous membranes. Mutations of the protein plectin, encoded by PLEC, cause autosomal recessive EB simplex with muscular dystrophy (EBS-MD) and EB simplex with pyloric atresia (EBS-PA). Until now, no clear genotype-phenotype correlation has been identified from the positions of mutations in the PLEC gene. How do ten distinct families with PLEC mutations manifesting as various EB disorders compare with regard to gene mutations? The hypothesis is that clinical manifestations of EB will be more extreme in patients with more severe gene mutations.

The design of …


In Vivo T Cell Genetic Engineering With Melanoma-Specific Tcr And Car, Toby Mathew, Vitali Alexeev Jan 2020

In Vivo T Cell Genetic Engineering With Melanoma-Specific Tcr And Car, Toby Mathew, Vitali Alexeev

Phase 1

Introduction: Adoptive cell transfer (ACT) using T cells genetically engineered to express tumor-specific T cell receptors (TCR) and Chimeric Antigen receptors (CAR) have demonstrated high remission rates in patients with advanced cancers. Targeting of metastatic melanoma with TCR-modified recombinant T cells showed clinically significant response in the majority of patients. However, due to certain drawbacks, this powerful strategy is not yet available for broad clinical application. We propose that in vivo genetic engineering approach may allow overcoming several drawbacks associated ACT and could convert it into generic and cost-effective modality to bring recombinant T cell therapies to general patient …


Characterizing Patch Test Findings In African American Acd Patients, Vaibhav Garg, Bruce Brod, Anthony Gaspari Jan 2020

Characterizing Patch Test Findings In African American Acd Patients, Vaibhav Garg, Bruce Brod, Anthony Gaspari

Phase 1

Introduction: Allergic Contact Dermatitis (ACD) in African Americans has not been well studied, and there is little information related to differences in patterns of ACD between African Americans and Caucasians. This paper aims to investigate relative differences in patterns of sensitization in African American ACD patients.

Methods: This study is a retrospective descriptive study. Data of ACD patients patch tested from 2009-2019 by Dr. Gaspari and Dr. Brod at TJUH and HUP/UPHS were reviewed. Patch test findings for African American and Caucasian patients were compared. Outcomes such as positive allergens, strength, clinical relevance, patient occupation, and personal product use …


Plasma Exosome Mir-155-5p As An Independent Prognostic Risk Factor For Mycosis Fungoides, Adam Cohen-Nowak, Neda Nikbakht Jan 2020

Plasma Exosome Mir-155-5p As An Independent Prognostic Risk Factor For Mycosis Fungoides, Adam Cohen-Nowak, Neda Nikbakht

Phase 1

Introduction: Mycosis Fungoides (MF) is a rare non-Hodgkin Lymphoma with variable progression that comprises half of all cutaneous T-cell lymphomas (CTCLs). Previous studies have shown higher expression of the micro-RNA miR-155-5p isolated from biopsies of MF tumors compared to early-stage lesions and healthy skin, illustrating the potential for miR-155-5p to serve as a prognostic indicator. Small extracellular vesicles (30-150 nm) called exosomes are known to play a role in cancer signaling and progression by carrying micro-RNAs. However, no studies have measured circulating exosomal miR-155-5p in the blood of patients with MF. We hypothesize that miR-155-5p is expressed higher in …


Efficacy Of Combination Of Immunotherapies In A Murine In A Murine Squamous Cell Carcinoma Model, E. Correia, C. Portocarrero, U. Rodeck Feb 2019

Efficacy Of Combination Of Immunotherapies In A Murine In A Murine Squamous Cell Carcinoma Model, E. Correia, C. Portocarrero, U. Rodeck

Phase 1

Introduction: Head and neck squamous cell carcinomas (HNSCCs) are a type of neoplasm found in the epithelium of the oral cavity, oropharynx, nasopharynx, larynx, or hypopharynx. Recent evidence has demonstrated that 70-90% of HNSCC are associated with Human Papillomavirus (HPV), particularly strain 16 producing oncogenic proteins E6/E7. Currently, HNSCCs are treated with surgery, chemotherapy, and radiation, however immunotherapy with immune checkpoint (PD-1) blocking agents promises to improve outcomes in HNSCC.

Objective: This study examined the therapeutic effects of dual and triple combination immunotherapies in a mouse model of HPV-associated HNSCC.

Methods: Treatment modalities included a tumor vaccine (attenuated Listeria monocytogenes …


High Density Of Tumor-Associated Macrophage Staining Correlates With Poor Clinicopathologic Markers In Head And Neck Squamous Cell Carcinoma: A Meta-Analysis, Alexander Knops, Ba, Ayan Kumar, Bs, Brian Swendseid, Md, Ubaldo E. Martinez-Outshoorn, Md, Larry Harshyne, Phd, Nancy Philp, Phd, Ulrich Rodeck, Md, Phd, Christopher Snyder, Adam Luginbuhl, Md, David Cognetti, Md, Jennifer Johnson, Md, Joseph Curry, Md Feb 2019

High Density Of Tumor-Associated Macrophage Staining Correlates With Poor Clinicopathologic Markers In Head And Neck Squamous Cell Carcinoma: A Meta-Analysis, Alexander Knops, Ba, Ayan Kumar, Bs, Brian Swendseid, Md, Ubaldo E. Martinez-Outshoorn, Md, Larry Harshyne, Phd, Nancy Philp, Phd, Ulrich Rodeck, Md, Phd, Christopher Snyder, Adam Luginbuhl, Md, David Cognetti, Md, Jennifer Johnson, Md, Joseph Curry, Md

Phase 1

Background: Head and neck squamous cell carcinoma (HNSCC) develops within a complex cellular microenvironment that promotes tumor growth, but also represents many potential therapeutic targets. Macrophage presence within that environment has been implicated in the growth, aggression, and persistence of HNSCC. Current literature reports variable degrees of association between tumor-associated macrophage (TAMs) density and clinicopathologic markers of disease.Inconsistent findings may result from grouping of TAM subtypes, which include both M1 (pro-inflammatory) and M2 (immunosuppressive). Our aim is to define the prognostic significance of the phenotypes of tumor-associated macrophages in HNSCC.

Methods: We conducted a meta-analysis of the existing publications investigating …


Total Body Skin Exam And Number Needed To Screen, Audra Hugo, Michael Bui, Alexander Sherban, Shayan Waseh, Elizabeth Jones, Md Feb 2019

Total Body Skin Exam And Number Needed To Screen, Audra Hugo, Michael Bui, Alexander Sherban, Shayan Waseh, Elizabeth Jones, Md

Phase 1

Introduction/Background: Skin cancer screening could impact mortality and morbidity in US adults; however, the effectiveness of widespread screening remains unclear. Further research is necessary to determine what age groups, with what risk factors, might benefit from routine total body skin exams (TBSE) in the US.

Objective: This study sought to determine, on average, the number of patients, per decade, needed to screen via TBSE to identify one person with skin cancer.

Methods: A retrospective review of Jefferson Dermatology outpatient data in Epic was conducted. All patient charts from 1/1/2017 - 1/1/2018 were reviewed if they received a TBSE. The type …


Total Body Skin Exams: Sensitivity, Specificity, And Number Needed To Screen, Shayan Waseh, Michael Bui, Audra Hugo, Alexander Sherban, Elizabeth Jones, Md Dec 2018

Total Body Skin Exams: Sensitivity, Specificity, And Number Needed To Screen, Shayan Waseh, Michael Bui, Audra Hugo, Alexander Sherban, Elizabeth Jones, Md

Phase 1

Introduction: Skin cancer, the most common form of cancer worldwide, has one of the highest cure rates among cancers if diagnosed and treated early in its course. The Total Body Skin Exam (TBSE) is the primary modality used to screen for skin cancers. Currently, few studies have characterized the effectiveness of the TBSE in contemporary populations.

Objective: Characterizing the number-needed-to-screen (NNS) to diagnose a case of skin cancer through TBSEs will make it possible to better understand its effectiveness as a screening modality and its utility in an increasingly population health-based healthcare system.

Methods: A retrospective chart review of 3155 …