Medicine and Health Sciences Commons^™

Establishing The Relationship Between Mendelian Nafld And Skin Pathology, Anthony Medvedev, Hassan Vahidnezhad, Phd, Leila Youssefian, Phd, Jouni Uitto, Md, Phd

Phase 1

Introduction:

It is estimated that 25% of the world’s population has some form of Nonalcoholic Fatty Liver Disease (NAFLD), a pathology associated with the development of cirrhosis, varices, and hepatocellular carcinoma. The discovery of a biallelic mutation in ABHD5 established the link between NAFLD and Chanarin-Dorfman syndrome. Consequently, it was hypothesized that additional NAFLD-inducing mutations could be associated with dermatologic manifestations.

Methods:

International NAFLD patients from consanguineous families underwent whole exome sequencing. These results were then filtered by frequency and pathogenicity prediction algorithms (e.g. Mutation Taster, Polyphen, CADD) to yield novel mutations. Concurrently, a literature review via PubMed identified …

The Impact Of Patient Characteristics On Quality Of Life In Keloid Patients, Jonathan Wang, Romsin Zaya, Rachel Zachian, Mary Metkus, Neda Nikbakht

Phase 1

Introduction: Quality of life (QoL) is an important metric in assessing dermatological diseases such as keloids. This study evaluated the effects of patient characteristics on QoL in keloid patients.

Methods: This was a cross-sectional study. 36 patients presenting to the keloid clinic at TJUH were surveyed. QoL subscale scores for emotion, symptom, and function were calculated in addition to a total score for each patient using a keloid-specific questionnaire. The association between the QoL scores and patient characteristics of sex, ethnicity, as well as keloid location, duration, visibility, size, number, pain score, and pruritis score were evaluated using t-tests. …

Use Of Active Comparator Tirals In Dermatology: A Repeated Cross-Sectional Analysis, John Miller, John Barbieri, Md, Arash Mostaghimi, Md, Sophia Ly

Phase 1

Introduction: Spending on medications is expected to grow to $420 billion in 2023, largely driven by introduction of new branded products. While new branded medications can transform how physicians care for patients, others may not offer meaningful benefit over existing less costly alternatives. As additional new products are approved, the need to include active comparators in dermatologic clinical trials is particularly important to guide clinical decision making.

Methods: To evaluate the trends in the use of active comparator trials designs, topical medications approved between January 2002 and December 2020 were identified through the 2020 Food and Drug Administration (FDA) …

The Prevalence Of Orally Administered Glucocorticoids, Generalized Pustular Psoriasis And Erythrodermic Psoriasis In The Treatment Of Adult Plaque Psoriasis Provided By U.S. Dermatologists, Katherine Awh, Kumar Nasham, Christian Albornoz, Steven Feldman, Anthony Albornoz

Phase 1

Introduction: Orally administered glucocorticoids (OAG) are not recommended for the management of plaque psoriasis (PsO) due to the classically feared outcomes of generalized pustular psoriasis (GPP) and erythrodermic psoriasis (EP). Given their widespread anecdotal use, we hypothesize that the use of OAG is not infrequent among US dermatologists and is rarely complicated by GPP or EP.

Methods: Anonymous electronic survey of 50 US dermatologists. Primary outcomes of interest were the prevalence of OAG in the management of PsO and the prevalence of GPP and EP in the context of OAG tapering.

Results: Overall, 9 out of 50 (18%) respondents …

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

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

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

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

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

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

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

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 …