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A Novel Mutation In St14 At A Functionally Significant Amino Acid Residue Expands The Spectrum Of Ichthyosis-Hypotrichosis Syndrome., Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete.

RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p.Asp482Asn mutation in ST14 was identified in a patient with IHS. This mutation affects an …

Epigenetic Suppression Of Hippocampal Calbindin-D28k By Δfosb Drives Seizure-Related Cognitive Deficits., Jason C. You, Kavitha Muralidharan, Jin W. Park, Iraklis Petrof, Mark S. Pyfer, Brian F. Corbett, John J. Lafrancois, Yi Zheng, Xiaohong Zhang, Carrie A. Mohila, Daniel Yoshor, Robert A. Rissman, Eric J. Nestler, Helen E. Scharfman, Jeannie Chin

Department of Neuroscience Faculty Papers

The calcium-binding protein calbindin-D28k is critical for hippocampal function and cognition, but its expression is markedly decreased in various neurological disorders associated with epileptiform activity and seizures. In Alzheimer's disease (AD) and epilepsy, both of which are accompanied by recurrent seizures, the severity of cognitive deficits reflects the degree of calbindin reduction in the hippocampal dentate gyrus (DG). However, despite the importance of calbindin in both neuronal physiology and pathology, the regulatory mechanisms that control its expression in the hippocampus are poorly understood. Here we report an epigenetic mechanism through which seizures chronically suppress hippocampal calbindin expression and impair cognition. …

Allergic Contact Dermatitis To 2-Octyl Cyanoacrylate After Surgical Repair: Humidity As A Potential Factor, Avi Bitterman, Karanjit Sandhu

Student Papers, Posters & Projects

Allergic contact dermatitis to 2-octyl cyanoacrylate (Dermabond; Ethicon, Somerville, NJ) after surgical repair is an extremely rare condition with few reported cases. In recent years, contact dermatitis to Dermabond has been reported with increasing frequency.Cyanoacrylates are the most commonly used surgical adhesives and rely on their rapid polymerization to prevent sensitization from antigen presenting cells (APCs), because APCs are only capable of monomeric recognition of cyanoacrylates. It is thought that arid climates may contribute to increased sensitization of cyanoacrylates because water drives the polymerization reaction, decreasing the number of monomers capable of recognition by APCs. With less water present in …

Rabies Screen Reveals Gpe Control Of Cocaine-Triggered Plasticity., Kevin T. Beier, Christina K. Kim, Paul Hoerbelt, Lin Wai Hung, Boris D. Heifets, Katherine E. Deloach, Timothy J. Mosca, Sophie Neuner, Karl Deisseroth, Liqun Luo, Robert C. Malenka

Department of Neuroscience Faculty Papers

Identification of neural circuit changes that contribute to behavioural plasticity has routinely been conducted on candidate circuits that were preselected on the basis of previous results. Here we present an unbiased method for identifying experience-triggered circuit-level changes in neuronal ensembles in mice. Using rabies virus monosynaptic tracing, we mapped cocaine-induced global changes in inputs onto neurons in the ventral tegmental area. Cocaine increased rabies-labelled inputs from the globus pallidus externus (GPe), a basal ganglia nucleus not previously known to participate in behavioural plasticity triggered by drugs of abuse. We demonstrated that cocaine increased GPe neuron activity, which accounted for the …

Incontinentia Pigmenti In A Child With Suspected Retinoblastoma., Stephanie J. Weiss, Archana Srinivasan, Michael A. Klufas, Carol L. Shields

Wills Eye Hospital Papers

BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria.

CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma. She was found to have an ischemic retrolental fibrovascular retinal detachment. In addition, there was linear cutaneous hyperpigmentation, diagnostic of incontinentia pigmenti.

CONCLUSIONS: Retinoblastoma can be a challenge …

The Oral Microbiome And Adverse Pregnancy Outcomes., Charles M. Cobb, Patricia J. Kelly, Karen B. Williams, Shilpa Babbar, Mubashir Angolkar, Richard J. Derman

Department of Obstetrics and Gynecology Faculty Papers

Significant evidence supports an association between periodontal pathogenic bacteria and preterm birth and preeclampsia. The virulence properties assigned to specific oral pathogenic bacteria, for example, Fusobacterium nucleatum, Porphyromonas gingivalis, Filifactor alocis, Campylobacter rectus, and others, render them as potential collaborators in adverse outcomes of pregnancy. Several pathways have been suggested for this association: 1) hematogenous spread (bacteremia) of periodontal pathogens; 2) hematogenous spread of multiple mediators of inflammation that are generated by the host and/or fetal immune response to pathogenic bacteria; and 3) the possibility of oral microbial pathogen transmission, with subsequent colonization, in the vaginal microbiome resulting from sexual …

Clinical Application Of Ceramics In Anterior Cervical Discectomy And Fusion: A Review And Update, Shayan A. Zadegan, Aidin Abedi, Seyed B. Jazayeri, Hirbod Bonaki, Alex R. Vaccaro, Vafa Rahimi-Movaghar

Rothman Institute Faculty Papers

Study Design: Narrative review. Objectives: Anterior cervical discectomy and fusion (ACDF) is a reliable procedure, commonly used for cervical degenerative disc disease. For interbody fusions, autograft was the gold standard for decades; however, limited availability and donor site morbidities have led to a constant search for new materials. Clinically, it has been shown that calcium phosphate ceramics, including hydroxyapatite (HA) and tricalcium phosphate (TCP), are effective as osteoconductive materials and bone grafts. In this review, we present the current findings regarding the use of ceramics in ACDF. Methods: A review of the relevant literature examining the clinical use of ceramics …

Jefferson Digital Commons Quarterly Report: January-March 2017, Daniel G. Kipnis, Msi, Kelsey Duinkerken, Msi, James Copeland, Libt

Jefferson Digital Commons Reports

Quarterly report includes highlights of assets added to the JDC along with feedback from researchers.

Robert Reynolds Macintosh, M.D. (1897-1989): Forefather Of Anesthesiology, Advocate For Patient Safety., Haig Minassian, Scott W. Cowan, Charles J. Yeo

Department of Surgery Gibbon Society Historical Profiles

No abstract provided.

Microscopic Examination Of Findings Encountered During Cadaver Dissection: Malignant, Benign Or Anatomic Variation?, Maria Cicioni, Vandi Ly, Guiyun Zhang, Bruce Fenderson

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Pathologic findings encountered during cadaver dissection provide an opportunity for integrating the preclinical basic sciences and encouraging critical thinking. The objective of this study was to determine whether it is possible to make a pathologic diagnosis of an unknown mass from an embalmed cadaver. Diagnoses would have to be based solely on gross and microscopic appearance of tissue, without clinical histories of the cadaveric donors. The tissue samples we removed from each mass were surprisingly well preserved and showed minimal autolysis. Indeed, some of the histological detail was as clear as may be found in any textbook. We were able …

Download Entire Issue: Collaborative Healthcare: Interprofessional Practice, Education And Evaluation (Jcipe), Volume 7, Number 2, 2016

Collaborative Healthcare: Interprofessional Practice, Education and Evaluation (JCIPE)

Articles in this issue include:

Interprofessional Peer Teaching: Physical Therapy Students Teaching Dental Students to Transfer Patients

The Development of the Interprofessional Leadership Institute for Mental Health Equity

Teaching Interprofessional Practice Skills by “Saving Humanity”: An Innovative IPE Curricular Method Using a Cooperative Strategy Board Game

Reflections from the Bedsides of Dying Patients

Interprofessional Peer Teaching: Physical Therapy Students Teaching Dental Students To Transfer Patients, Kim Dunleavy, Pt, Phd, Ocs, Venita Sposetti, Dmd

Collaborative Healthcare: Interprofessional Practice, Education and Evaluation (JCIPE)

Background While the need for interprofessional education (IPE) has been clearly elucidated, (Interprofessional Education Collaborative, 2016), one of the major barriers is the logistical challenge of meeting curricular requirements for all involved. The organization and time required in an already full schedule are often deterrents. Ideal opportunities meet specific program curricular requirements as well as enhancing interprofessional competencies. Interprofessional competencies include developing skills to teach other health care providers about profession-specific skills and enhancing communication across the professions (Bridges, 2011; Interprofessional Education Collaborative, 2016). Active learning techniques have been advocated for adult learners to promote motivation and engagement (Knowles, 1984), …

Jefferson Digital Commons Quarterly Report: October-December 2016, Daniel G. Kipnis, Msi, Kelsey Duinkerken, Msi, James Copeland, Libt

Jefferson Digital Commons Reports

This quarterly report includes:

• New departments joining the JDC
• Statistics for 2016
• Assorted assets added to the JDC in the last quarter
• What people are saying about the JDC

Distal Interphalangeal Joint Arthrodesis Complicated By Postoperative Infection: A Rare Presentation Of Disseminated Herpes Simplex Virus., Meredith N. Osterman, Michael P. Gaspar

Department of Orthopaedic Surgery Faculty Papers

Postoperative infection after elective arthrodesis of the interphalangeal joint is an uncommon complication often necessitating urgent debridement. We present the rare case of a female patient with a history of oral herpetic lesions, who underwent elective arthrodesis of the middle and index fingers for treatment of erosive osteoarthritis and subsequently developed a postoperative herpetic infection at the surgical site.