Digital Commons Network^™

Evidence-Based Approach For Prevention Of Surgical Site Infection, Mehmet Kursat Yilmaz, Nursanem Celik, Saad Tarabichi, Ahmad Abbaszadeh, Javad Parvizi

Rothman Institute Faculty Papers

Periprosthetic joint infection (PJI) is regarded as a critical factor contributing to the failure of primary and revision total joint arthroplasty (TJA). With the increasing prevalence of TJA, a significant increase in the incidence of PJI is expected. The escalating number of cases, along with the significant economic strain imposed on healthcare systems, place emphasis on the pressing need for development of effective strategies for prevention. PJI not only affects patient outcomes but also increases mortality rates, thus its prevention is a matter of vital importance. The longer-term survival rates for PJI after total hip and knee arthroplasty correspond with …

A Systematic Review Of Oral Vertical Dyskinesia ("Rabbit" Syndrome), Jamir Pitton Rissardo, Krish Kherajani, Nilofar Murtaza Vora, Venkatesh Yatakarla, Ana Letícia Fornari Caprara, Jeffrey Ratliff, Md, Stanley N Caroff

Department of Neurology Faculty Papers

Background and Objectives: Vertical rhythmic dyskinetic movements that are primarily drug-induced and affect solely the jaw, mouth, and lips without involving the tongue have been historically described as “rabbit” syndrome (RS). Evidence on the unique features and implications of this disorder remains limited. This literature review aims to evaluate the clinical–epidemiological profile, pathological mechanisms, and management of this movement disorder. Materials and Methods: Two reviewers identified and assessed relevant reports in six databases without language restriction published between 1972 and 2024. Results: A total of 85 articles containing 146 cases of RS were found. The mean frequency of RS among …

Enpp1 Enzyme Replacement Therapy Improves Ectopic Calcification But Does Not Rescue Skeletal Phenotype In A Mouse Model For Craniometaphyseal Dysplasia, Ernst Reichenberger, Kevin O'Brien, Ayano Hatori, Thomas Carpenter, Koen Van De Wetering, Lisa Flaman, Jennifer Howe, Daniel Ortiz, Yves Sabbagh, I-Ping Chen

Jefferson Institute of Molecular Medicine Papers and Presentations

Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder, characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. Craniofacial hyperostosis leads to the obstruction of neural foramina and neurological symptoms such as facial palsy, blindness, deafness, or severe headache. Mutations in ANKH (mouse ortholog ANK), a transporter of small molecules such as citrate and ATP, are responsible for autosomal dominant CMD. Knock-in (KI) mice carrying an ANK_F377del mutation (Ank^KI/KI) replicate many features of human CMD. Pyrophosphate (PPi) levels in plasma are significantly reduced in Ank^KI/KI mice. PPi is a potent inhibitor of …

Association Between Time From Surgery To Radiation Therapy And Multimodality Treatment Outcomes In Hpv+ Head And Neck Cancer: A Multi-Institutional Cohort Experience, Muneeb Niazi, Ryan Miller, Ryann Kolb, Wenyan Ji, Alicia Lozano, Monica Ahrens, Alexandra Hanlon, Max Pickles, Andrew Song, Voichita Bar-Ad, Neil Hockstein, Sujung Park, Adam Raben, Gaurav Shukla

Department of Radiation Oncology Faculty Papers

Purpose: Oropharyngeal squamous cell cancers (OPSCCs) are traditionally managed with surgery and, if indicated, adjuvant radiation therapy (RT) with or without chemotherapy. NCCN recommends keeping the time from surgery to the start of RT (TSRT) within 6 weeks to avoid possibly compromising patient outcomes. HPV+ OPSCCs behave more favorably than HPV- OPSCCs. We hypothesized that TSRT beyond 6 weeks may not portend poorer outcomes for the former. Methods: We identified nonmetastatic, high-risk HPV+ OPSCCs treated with multimodal therapy at 2 institutions. Prolonged TSRT was defined as >6 weeks and was evaluated for association with recurrence-free survival (RFS). Radiation treatment time …

High-Dose Intravenous Vitamin C Combined With Docetaxel In Men With Metastatic Castration-Resistant Prostate Cancer: A Randomized Placebo-Controlled Phase Ii Trial, Channing Paller, Marianna Zahurak, Adel Mandl, Nicole Metri, Aliya Lalji, Elisabeth Heath, William Kelly, Christopher Hoimes, Pedro Barata, Jason Taksey, Dominique Garrison, Kartick Patra, Ginger Milne, Nicole Anders, Julie Nauroth, Jennifer Durham, Catherine Marshall, Mark Markowski, Mario Eisenberger, Emmanuel Antonarakis, Michael Carducci, Samuel Denmeade, Mark Levine

Department of Medicine Faculty Papers

UNLABELLED: High-dose intravenous vitamin C (HDIVC) administered to produce pharmacologic concentrations shows promise in preclinical models and small clinical trials, but larger prospective randomized trials are lacking. We evaluated the clinical benefit of combining HDIVC with docetaxel in patients with progressive metastatic castration-resistant prostate cancer (mCRPC). In this double-blind, placebo-controlled phase II trial, 47 patients were randomized 2:1 to receive docetaxel (75 mg/m2 i.v.) with either HDIVC (1 g/kg) or placebo. Coprimary endpoints were PSA50 response and adverse event rates. Secondary endpoints included overall survival, radiographic progression-free survival, and quality of life measured using the Functional Assessment of Cancer Therapy-Prostate …

Potential Targeting Mechanisms For Bone-Directed Therapies, Betul Celik, Andrés Leal, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Bone development is characterized by complex regulation mechanisms, including signal transduction and transcription factor-related pathways, glycobiological processes, cellular interactions, transportation mechanisms, and, importantly, chemical formation resulting from hydroxyapatite. Any abnormal regulation in the bone development processes causes skeletal system-related problems. To some extent, the avascularity of cartilage and bone makes drug delivery more challenging than that of soft tissues. Recent studies have implemented many novel bone-targeting approaches to overcome drawbacks. However, none of these strategies fully corrects skeletal dysfunction, particularly in growth plate-related ones. Although direct recombinant enzymes (e.g., Vimizim for Morquio, Cerezyme for Gaucher, Elaprase for Hunter, Mepsevii for …

Remimazolam And Its Place In The Current Landscape Of Procedural Sedation And General Anesthesia, Matthew Brohan, Janette Brohan, Basavana Goudra

Department of Anesthesiology Faculty Papers

Remimazolam was derived from its parent compound by adding an ester linkage into its structure so that the drug becomes a substrate for ester metabolism. As a result, it undergoes organ-independent ester hydrolysis, although the clinical benefits in terms of shorter recovery are not uniformly observed in clinical practice. Remimazolam is mainly tested in procedural sedation. In comparison to propofol, the current gold standard for procedural sedation, its proposed attractiveness is shorter wake-up times and a clear-headed recovery. Its clear advantages over propofol are better hemodynamic stability, lack of pain on injection and availability of a reversal agent in the …

Contributions Of Brain Microstructures And Metabolism To Visual Field Loss Patterns In Glaucoma Using Archetypal And Information Gain Analyses, Yueyin Pang, Ji Won Bang, Anisha Kasi, Jeremy Li, Carlos Parra, Els Fieremans, Gadi Wollstein, Joel S. Schuman, Mengyu Wang, Kevin C Chan

Wills Eye Hospital Papers

PURPOSE: To investigate the contributions of the microstructural and metabolic brain environment to glaucoma and their association with visual field (VF) loss patterns by using advanced diffusion magnetic resonance imaging (dMRI), proton magnetic resonance spectroscopy (MRS), and clinical ophthalmic measures.

METHODS: Sixty-nine glaucoma and healthy subjects underwent dMRI and/or MRS at 3 Tesla. Ophthalmic data were collected from VF perimetry and optical coherence tomography. dMRI parameters of microstructural integrity in the optic radiation and MRS-derived neurochemical levels in the visual cortex were compared among early glaucoma, advanced glaucoma, and healthy controls. Multivariate regression was used to correlate neuroimaging metrics with …

Conformational Alterations Of The Cell Surface Of Monomeric And Dimeric Β2m-Free Hla-I (Proto-Hla) May Enable Novel Immune Functions In Health And Disease, Mepur Ravindranath, Narendranath Ravindranath, Carly Amato-Menker, Fatiha El Hilali, Edward Filippone

Division of Nephrology Faculty Papers

Human leukocyte antigens (HLAs) are polymorphic glycoproteins expressed on the cell surface of nucleated cells and consist of two classes, HLA class I and HLA class II. In contrast, in mice, these molecules, known as H-2, are expressed on both nucleated cells and erythrocytes. HLA-I molecules (Face-1) are heterodimers consisting of a polypeptide heavy chain (HC) and a light chain, B2-microglobulin (B2m). The heterodimers bind to antigenic peptides and present them to the T-cell receptors of CD8+ cytotoxic T lymphocytes. The HCs can also independently emerge on the cell surface as B2m-free HC monomers without peptides (Face-2). Early investigators suggested …

Neutrophil To Lymphocyte Ratio As A Prognostic Marker For Cardiovascular Outcomes In Patients With St-Segment Elevation Myocardial Infarction After Percutaneous Coronary Intervention: A Systematic Review And Meta-Analysis, Hassan Ul Hussain, Kanwal Ashok Kumar, Marium Zahid, Muhammad Husban Burney, Zayeema Khan, Muqaddus Asif, Syeda Tayyaba Rehan, Huzaifa Ahmad Cheema, Sarya Swed, Farah Yasmin, Waqas Ullah, M. Chadi Alraies

Abington Jefferson Health Papers

BACKGROUND: Neutrophil to lymphocyte ratio (NLR) has been considered a prognostic biomarker of mortality and other major cardiac events. This study investigates NLR's efficacy in predicting in-hospital and long-term outcomes in patients with ST-segment elevated myocardial infarction (STEMI) undergoing percutaneous coronary intervention (PCI).

METHODS: Electronic databases (PUBMED, Cochrane CENTRAL, ERIC, Embase, Ovid, and Google Scholar) were searched till June 2022 to identify studies having STEMI patients who underwent PCI. Risk ratios and mean differences (MDs), along with their corresponding 95% confidence intervals (Cis) and standard deviations (SDs), were pooled using a random-effect model. This meta-analysis has been registered on Prospero …

Hairy Tongue Associated With The Use Of Baricitinib Therapy For Ophiasis Pattern Alopecia Areata, Anthony Gaspari

Department of Dermatology and Cutaneous Biology Faculty Papers

We report a case of hairy tongue that developed in a young Caucasian
woman during systemic baricitinib therapy for severe alopecia areata.
Because she experienced good clinical regrowth of her hair during
treatment, she did not want to interrupt therapy. We recommended she
use a toothbrush to debride her tongue on a daily basis, which was
successful. Hairy tongue most commonly occurs in elderly, debilitated
males with poor oral hygiene. It is thought to occur because of overgrowth
of chromogenic bacteria and/or yeast on the tongue. This unusual side
effect during baricitinib therapy suggests that immune suppression may
play a …

Development And External Validation Of The 'Global Surgical-Site Infection' (Glossi) Predictive Model In Adult Patients Undergoing Gastrointestinal Surgery, Viren P. Punja, Melanie K. Sion, Michael S. Weinstein

Department of Medicine Faculty Papers

Background: Identification of patients at high risk of surgical-site infections may allow surgeons to minimize associated morbidity. However, there are significant concerns regarding the methodological quality and transportability of models previously developed. The aim of this study was to develop a novel score to predict 30-day surgical-site infection risk after gastrointestinal surgery across a global context and externally validate against existing models. Methods: This was a secondary analysis of two prospective international cohort studies: GlobalSurg-1 (July-November 2014) and GlobalSurg-2 (January-July 2016). Consecutive adults undergoing gastrointestinal surgery were eligible. Model development was performed using GlobalSurg-2 data, with novel and previous scores …

Radiomic Biomarkers Of Locoregional Recurrence: Prognostic Insights From Oral Cavity Squamous Cell Carcinoma Preoperative Ct Scans, Xiao Ling, Gregory S. Alexander, Jason Molitoris, Jinhyuk Choi, Lisa Schumaker, Phuoc Tran, Ranee Mehra, Daria Gaykalova, Lei Ren

Department of Radiation Oncology Faculty Papers

INTRODUCTION: This study aimed to identify CT-based imaging biomarkers for locoregional recurrence (LR) in Oral Cavity Squamous Cell Carcinoma (OSCC) patients.

METHODS: Computed tomography scans were collected from 78 patients with OSCC who underwent surgical treatment at a single medical center. We extracted 1,092 radiomic features from gross tumor volume in each patient's pre-treatment CT. Clinical characteristics were also obtained, including race, sex, age, tobacco and alcohol use, tumor staging, and treatment modality. A feature selection algorithm was used to eliminate the most redundant features, followed by a selection of the best subset of the Logistic regression model (LRM). The …

Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration And Skeletal Dysplasia, Kimheak Sao, Makarand V. Risbud

Department of Orthopaedic Surgery Faculty Papers

Proteoglycans through their sulfated glycosaminoglycans regulate cell-matrix signaling during tissue development, regeneration, and degeneration processes. Large extracellular proteoglycans such as aggrecan, versican, and perlecan are especially important for the structural integrity of the intervertebral disc and cartilage during development. In these tissues, proteoglycans are responsible for hydration, joint flexibility, and the absorption of mechanical loads. Loss or reduction of these molecules can lead to disc degeneration and skeletal dysplasia, evident from loss of disc height or defects in skeletal development respectively. In this review, we discuss the common proteoglycans found in the disc and cartilage and elaborate on various murine …

Nurse-Led Brief Intervention For Enhancing Safe Sex Practice Among Emerging Adults In Hong Kong Using Instant Messaging: Feasibility Study, Sharon Hoi Lam Pak, Man Ping Wang, Anne M. Teitelman, Janet Yuen Ha Wong, Daniel Yee Tak Fong, Edmond Pui Hang Choi

College of Nursing Faculty Papers & Presentations

BACKGROUND: The incidence of sexually transmitted infections has been increasing throughout the world. Additionally, substantial changes in emerging adults' attitudes toward sex and the popularization of premarital sex could further affect the diagnosis and treatment of sexually transmitted infections. With the high acceptability and effectiveness of instant messaging (IM) interventions for health promotion, there is potential for such interventions to improve condom use knowledge and promote safer sex practice.

OBJECTIVE: The study evaluates the feasibility of a nurse-led IM intervention to promote safer sex practices in emerging adults.

METHODS: A 30-minute adaptive IM intervention and a 5-day booster dose of …

Reaching The Unheard: Overcoming Challenges In Health Research With Hard-To-Reach Populations, Venera Bekteshi, Munjireen Sifat, Darla Kendzor

Kimmel Cancer Center Faculty Papers

PURPOSE: Addressing obstacles such as logistical complexities, social stigma, and the impact of historical traumas is essential for the successful inclusion of underrepresented groups in health research.

METHODS: This article reviews engagement and interview techniques used to ethically engage recently settled Afghan refugees in Oklahoma and rural Mexican-born women in Illinois in research. The paper concludes with a reflective discussion on the challenges and lessons learned.

RESULTS: Creative strategies to engage hard-to-reach populations in research included considering the participants' socioeconomic and cultural contexts in their interactions and developing community partnerships to establish trust and obtain reliable data. Other engagement strategies …

Characterizing Multimorbidity Prevalence And Adverse Outcomes In Ethnically And Culturally Diverse Sub-Populations In India: Gaps, Opportunities, And Future Directions, Preeti Zanwar, Robyn Taylor, Tanisha Hill-Jarrett, Elena Tsoy, Jason Flatt, Zunera Mirza, Carl Hill, Arokiasamy Perianayagam

College of Population Health Faculty Papers

India is a large middle-income country and has surpassed China in overall population, comprising 20% of the global population (over 1.43 billion people). India is experiencing a major demographic shift in its aging population. Chronic diseases are common among older adults and can be persistent over the life course, lead to the onset of disability, and be costly. Among older adults in India, the existence of multiple comorbid chronic conditions (i.e., multimorbidity) is rapidly growing and represents a burgeoning public health burden. Prior research identified greater rates of multimorbidity (e.g., overweight/obesity diabetes, hypertension, cardiovascular disease, stroke, and malignancies) in minority …

Scurvy: A Rare Disease Or A Rare Diagnosis?, David F. Gaieski

Department of Emergency Medicine Faculty Papers

Introduction:

Scurvy, the disease state caused by ascorbic acid deficiency, was once an extremely common disease but is now thought to be a rare disease in postmodern societies. Physicians are not trained to consider scurvy as a possible diagnosis in patients at risk; rather, it is considered a rare diagnosis to add to a differential for completeness’s sake.

Methods:

We sought to describe the scorbutic patients seen by one physician during a busy academic emergency medicine career. Case series of patients seen by one physician between 1993 and 2023 at five academic teaching hospitals with Emergency Departments (EDs) in the …

Geranylgeraniol (Ggoh), Incorporated Into A Bone Cement Pellet Promotes Osteoclast Function And Healing In A Model Of Medication-Related Osteonecrosis Of The Jaw, George J Feldman, David Young, Theresa Freeman, Lauren Israel, Daniel Taub, Robert Diecidue

Department of Oral and Maxillofacial Surgery Faculty Papers

INTRODUCTION: There is no cause -based treatment for Medication-Related Osteonecrosis of the Jaw (MRONJ). MRONJ is a morbid condition including exposed, infected bone and mandibular fractures in osteoporotic individuals and metastatic cancers patients treated with nitrogen containing bisphosphonates (NBP). NBPs inhibit farnesyl diphosphate synthase (FDPS) in the mevalonate pathway, depriving osteoclasts and other bone cells of small GTPases necessary for their function and survival. We test the hypothesis that geranylgeraniol (GGOH),a metabolite downstream of FDPS, when incorporated into a bone cement pellet, enhances osteoclast function and promotes local bone healing in

METHODS:

RESULTS: The release of GGOH from bone cement …

Diversity In The Hla-I Recognition Of Hla-F Monoclonal Antibodies: Hla-F Or Hla-Ib Monospecific, Hla-E Or Hla-G Bispecific Antibodies With Or Without Hla-Ia Reactivity, Mepur Ravindranath, Narendranath Ravindranath, Carly Amato-Menker, Fatiha El Hilali, Edward J Filippone

Division of Nephrology Faculty Papers

Previous investigators have used various anti-HLA-F monoclonal antibodies (mAbs) to demonstrate that the tissue distribution of HLA-F is highly restricted. Notably, these mAbs differed in their immunodiagnostic capabilities. Specifically, mAbs Fpep1.1 and FG1 detected HLA-F intracellularly in B cells but not on the cell surface, whereas mAb 3D11 detected HLA-F on the cell surface. The presence of HLA-F on T cells was recognized by mAb FG1 but not by mAb Fpep1.1. mAb 3D11 detected HLA-F on the cell surface of activated B cells and on peripheral blood lymphocytes, but not on the normal cells. Importantly, mAb 3D11 revealed that HLA-F …

Autocrine Igf-Ii-Associated Cancers: From A Rare Paraneoplastic Event To A Hallmark In Malignancy, Pierluigi Scalia, Ignazio R. Marino, Salvatore Asero, Giuseppe Pandini, Adda Grimberg, Wafik S. El-Deiry, Stephen J. Williams

Department of Surgery Faculty Papers

The paraneoplastic syndrome referred in the literature as non-islet-cell tumor hypoglycemia (NICTH) and extra-pancreatic tumor hypoglycemia (EPTH) was first reported almost a century ago, and the role of cancer-secreted IGF-II in causing this blood glucose-lowering condition has been widely established. The landscape emerging in the last few decades, based on molecular and cellular findings, supports a broader role for IGF-II in cancer biology beyond its involvement in the paraneoplastic syndrome. In particular, a few key findings are constantly observed during tumorigenesis, (a) a relative and absolute increase in fetal insulin receptor isoform (IR^A) content, with (b) an increase …

Olanzapine Pharmacokinetics: A Clinical Review Of Current Insights And Remaining Questions, Priyanka Kolli, Grace Kelley, Marianela Rosales, Justin Faden, Ryan Serdenes

Department of Psychiatry and Human Behavior Faculty Papers

Olanzapine is one of the most widely used antipsychotics since its initial approval by the US Food and Drug Administration in 1996 and has undergone extensive pharmacokinetic study. Despite being utilized in clinical psychiatry for decades, there remain questions regarding the variety of available formulations, the utility of therapeutic drug monitoring, altered kinetic properties in special populations/medical illnesses, the use of high-dose olanzapine, and drug interactions, among many others. We performed a narrative literature review of olanzapine pharmacokinetics in June 2023 using the US National Library of Medicine's PubMed.gov resource (https://www.ncbi.nlm.nih.gov/pubmed) and Google Scholar. Herein, we review clinically relevant aspects …

Harm Reduction In Undergraduate And Graduate Medical Education: A Systematic Scoping Review, Kelsey R. Smith, Nina K. Shah, Abby L. Adamczyk, Lara C. Weinstein, Erin L. Kelly

Department of Family & Community Medicine Faculty Papers

BACKGROUND: Substance use increasingly contributes to early morbidity and mortality, which necessitates greater preparation of the healthcare workforce to mitigate its harm. The purpose of this systematic scoping review is to: 1) review published curricula on harm reduction for substance use implemented by undergraduate (UME) and graduate medical education (GME) in the United States and Canada, 2) develop a framework to describe a comprehensive approach to harm reduction medical education, and 3) propose additional content topics for future consideration.

METHODS: PubMed, Scopus, ERIC: Education Resources Information Center (Ovid), and MedEdPORTAL were searched. Studies included any English language curricula about harm …

Treatment Response Of Gingival Squamous-Cell Carcinoma To Palliative Intent Immunotherapy, Natalia Trehan, Angelina Debbas, Mykaihla Sternick, Jennifer Johnson, James Gates

Department of Medical Oncology Faculty Papers

The use of PD-1 immune checkpoint inhibitor medications has become a common practice in the treatment of recurrent and metastatic head and neck squamous-cell carcinomas. Success in this setting has led to the investigation of their efficacy in locally advanced cases as a part of first-line therapy. In this report, we detail the treatment response to palliative intent immunotherapy of three geriatric patients with mandibular gingival squamous-cell carcinoma who decided against surgical intervention. Patient #1 was treated with pembrolizumab, a PD-1 inhibitor, and displayed complete clinical and radiologic response of the gingival mass after three months of treatment, which is …

Negative Pressure Wound Therapy For Complex Oral Wounds, Mykaihla Sternick, James Gates, Allen Champion, Andrew Yampolsky

Department of Oral and Maxillofacial Surgery Faculty Papers

Negative pressure wound therapy provides a nonsurgical treatment option for many types of complex wounds. This therapy utilizes the vacuum-assisted closure device, which decreases air pressure, removes fluid that accumulates within the wound, and aids to facilitate changes that promote healing. Despite the increased use of negative pressure wound therapy in the head and neck region, there is substantially less data available on the management of transoral vacuum-assisted wound closure. Herein, we present a case of a novel approach for the creation and use of a transoral wound vac for a patient with a refractory orocutaneous wound in the setting …

Perceptions Of Nigerian Medical Students Regarding Their Preparedness For Precision Medicine: A Cross-Sectional Survey In Lagos, Nigeria, Chibuzor Ogamba, Alero Roberts, Sharon Ajudua, Mosopefoluwa Akinwale, Fuhad Jeje, Festus Ibe, Moses Afolayan, Yetunde Kuyinu

Einstein Health Papers

BACKGROUND: Advances in precision medicine in Nigeria suggest improving genomics education and competency among healthcare practitioners to facilitate clinical translation. Due to the scarcity of research in this area, this study aimed to assess Nigerian medical students' perceptions about their preparedness to integrate precision medicine into their future clinical practice.

METHODS: This was an institution-based cross-sectional study of medicine and surgery students in their clinical years attending the two fully accredited colleges of medicine in Lagos, Nigeria, between April and October 2022 using an adapted tool administered via Google Forms. The survey assessed their awareness, perceptions about knowledge, ability, and …

Designing For Community Engagement: User-Friendly Refugee Wellness Center Planning Process And Concept, A Health Design Case Study, Ellen Solomon, Brandon Joa, Shandon Coffman, Billie Faircloth, Marc Altshuler, Bon Ku

Department of Family & Community Medicine Faculty Papers

BACKGROUND: Refugee and immigrant populations have diverse cultural factors that affect their access to health care and must be considered when building a new clinical space. Health design thinking can help a clinical team evaluate and consolidate these factors while maintaining close contact with architects, patients' community leaders, and hospital or institutional leadership. A diverse group of clinicians, medical students, community leaders and architects planned a clinic devoted to refugee and immigrant health, a first-of-its-kind for South Philadelphia.

METHODS: The planning process and concept design of this wellness center is presented as a design case study to demonstrate how principles …

Mucopolysaccharidosis Iva: Current Disease Models And Drawbacks, Andrés Felipe Leal, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients. For years, the MPS IVA pathogenesis and the assessment of promising drugs have been evaluated using in vitro (primarily fibroblasts) and in vivo (mainly mouse) models. Even though value information has been raised from those studies, these models have several limitations. For instance, chondrocytes have been well recognized as primary cells affected in MPS IVA and responsible for …

Alternative Genetic Diagnoses In Axenfeld-Rieger Syndrome Spectrum, Linda M. Reis, David J. Amor, Raad A. Haddad, Catherine B. Nowak, Kim M. Keppler-Noreuil, Smith Ann Chisholm, Elena V. Semina

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of individuals with Axenfeld–Rieger syndrome (ARS) but leave ~30% unsolved. Here, we present pathogenic/likely pathogenic variants in nine families with ARA/ARS or similar phenotypes affecting five different genes/regions. USP9X and JAG1 explained three families each. USP9X was recently linked with syndromic cognitive impairment that includes hearing loss, dental defects, ventriculomegaly, Dandy–Walker malformation, skeletal anomalies (hip dysplasia), and other features showing a significant overlap with FOXC1-ARS. Anterior segment anomalies are not currently associated with USP9X, yet our cases …

Examining The Latent Structure And Correlates Of Sensory Reactivity In Autism: A Multi-Site Integrative Data Analysis By The Autism Sensory Research Consortium, Zachary J. Williams, Roseann Schaaf, Karla K. Ausderau, Grace T. Baranek, D. Jonah Barrett, Carissa J. Cascio, Rachel L. Dumont, Ekomobong E. Eyoh, Michelle D. Failla, Jacob I. Feldman, Jennifer H. Foss-Feig, Heather L. Green, Shulamite A. Green, Jason L. He, Elizabeth A. Kaplan-Kahn, Bahar Keçeli-Kaysılı, Keren Maclennan, Zoe Mailloux, Elysa J. Marco, Lisa E. Mash, Elizabeth P. Mckernan, Sophie Molholm, Stewart H. Mostofsky, Nicolaas A.J. Puts, Caroline E. Robertson, Natalie Russo, Nicole Shea, John Sideris, James S. Sutcliffe, Teresa Tavassoli, Mark T. Wallace, Ericka L. Wodka, Tiffany G. Woynaroski

Department of Occupational Therapy Faculty Papers

BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population.

METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to …