Digital Commons Network^™

Treatment Of Dental Complications In Sickle Cell Disease., Priti Mulimani, Samir K. Ballas, Adinegara Bl Abas, Laxminarayan Karanth

Cardeza Foundation for Hematologic Research

BACKGROUND: Sickle cell disease is the most common single gene disorder and the commonest haemoglobinopathy found with high prevalence in many populations across the world. Management of dental complications in people with sickle cell disease requires special consideration for three main reasons. Firstly, dental and oral tissues are affected by the blood disorder resulting in several oro-facial abnormalities. Secondly, living with a haemoglobinopathy and coping with its associated serious consequences may result in individuals neglecting their oral health care. Finally, the treatment of these oral complications must be adapted to the systemic condition and special needs of these individuals, in …

Role Of Echocardiography In Diagnostic Evaluation Of Patients Admitted To Observation Unit., Muhammad Arslan Cheema, Hafez Mohammad Ammar Abdullah, Waqas Ullah, Yasar Sattar, Shujaul Haq, Khadija Cheema, Asrar Ahmad, Zain Ali, Asoka Balaratna

Abington Jefferson Health Papers

BACKGROUND: Syncope is a transient loss of consciousness due to transient decrease in cerebral perfusion. Syncope accounts for a 3-6% of all emergency department visits. Etiology of syncope can be neural, cardiogenic, or vascular. Previous studies have evaluated the types and management of syncope. Echocardiography is a commonly used test in the evaluation of causes of syncope. Whether the benefit compared to financial burden of this diagnostic study is in all subsets of syncope cases remains unclear.

AIM: To evaluate the impact of echocardiography in the diagnostic evaluation of syncope and to evaluate the subset of patients that would benefit …

Optimizing Cancer Cure Dialog: An Analysis Of Pancreatic Cancer Patients' Views Regarding Survival And Cure., Avinoam Nevler, Scott W. Keith, Harish Lavu, Theresa P. Yeo, Shawnna Cannaday, Charles J. Yeo, Jordan M. Winter

Department of Surgery Faculty Papers

BACKGROUND: Pancreatic ductal adenocarcinoma (PDA) is a highly lethal cancer. Clinicians commonly refer to surgical therapy as resection with curative intent. However, PDA cure rates after resection remain unknown and the definition of cure remains vague. We investigated how patients (the majority undergoing resection), family members, and clinicians understand the concept of cure, to better inform discussions with patients regarding PDA prognosis.

METHODS: In a prospective survey, cohorts were asked to indicate the best definition of cure from three choices: 5-year survival endpoint (typically used in the literature), a biological endpoint without biochemical or radiographic signs of disease (similar to …

Prognostic Nomogram For Bladder Cancer With Brain Metastases: A National Cancer Database Analysis., Zhixian Yao, Zhong Zheng, Wu Ke, Renjie Wang, Xingyu Mu, Feng Sun, Xiang Wang, Shivank Garg, Wenyin Shi, Yinyan He, Zhihong Liu

Department of Radiation Oncology Faculty Papers

BACKGROUND: This study aimed to establish and validate a nomogram for predicting brain metastasis in patients with bladder cancer (BCa) and assess various treatment modalities using a primary cohort comprising 234 patients with clinicopathologically-confirmed BCa from 2004 to 2015 in the National Cancer Database.

METHODS: Machine learning method and Cox model were used for nomogram construction. For BCa patients with brain metastasis, surgery of the primary site, chemotherapy, radiation therapy, palliative care, brain confinement of metastatic sites, and the Charlson/Deyo Score were predictive features identified for building the nomogram.

RESULTS: For the original 169 patients considered in the model, the …

Sighting Acute Myocardial Infarction Through Platelet Gene Expression., Giuliana Gobbi, Cecilia Carubbi, Guidantonio Malagoli Tagliazucchi, Elena Masselli, Prisco Mirandola, Filippo Pigazzani, Antonio Crocamo, Maria Francesca Notarangelo, Sergio Suma, Elvezia Paraboschi, Giuseppe Maglietta, Srikanth Nagalla, Giulia Pozzi, Daniela Galli, Mauro Vaccarezza, Paolo Fortina, Sankar Addya, Adam Ertel, Paul Bray, Stefano Duga, Carlo Berzuini, Marco Vitale, Diego Ardissino

Department of Cancer Biology Faculty Papers

Acute myocardial infarction is primarily due to coronary atherosclerotic plaque rupture and subsequent thrombus formation. Platelets play a key role in the genesis and progression of both atherosclerosis and thrombosis. Since platelets are anuclear cells that inherit their mRNA from megakaryocyte precursors and maintain it unchanged during their life span, gene expression profiling at the time of an acute myocardial infarction provides information concerning the platelet gene expression preceding the coronary event. In ST-segment elevation myocardial infarction (STEMI), a gene-by-gene analysis of the platelet gene expression identified five differentially expressed genes: FKBP5, S100P, SAMSN1, CLEC4E and S100A12. The logistic regression …

Role Of Probiotics In Non-Alcoholic Fatty Liver Disease: Does Gut Microbiota Matter?, Chencheng Xie, Dina Halegoua-De Marzio

Division of Gastroenterology and Hepatology Faculty Papers

Non-alcoholic fatty liver disease (NAFLD) is the hepatic consequence of metabolic syndrome, which often also includes obesity, diabetes, and dyslipidemia. The connection between gut microbiota (GM) and NAFLD has attracted significant attention in recent years. Data has shown that GM affects hepatic lipid metabolism and influences the balance between pro/anti-inflammatory effectors in the liver. Although studies reveal the association between GM dysbiosis and NAFLD, decoding the mechanisms of gut dysbiosis resulting in NAFLD remains challenging. The potential pathophysiology that links GM dysbiosis to NAFLD can be summarized as: (1) disrupting the balance between energy harvest and expenditure, (2) promoting hepatic …

Molluscum Contagiosum Infection With Features Of Primary Cutaneous Anaplastic Large Cell Lymphoma., Doaa Shalabi, John Ringe, Jason B. Lee, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

CD30+ T cell pseudolymphomas (CD30+ PSL) are a group of benign inflammatory cutaneous disorders that can develop in settings of viral infections or drug reactions. Owing to their histological similarities to malignant lymphomas, these benign infiltrates are occasionally misdiagnosed as malignant, causing significant concerns for patients and physicians. Herein, we report a patient with CD30+ PSL associated with molluscum contagiosum whose initial biopsy revealed atypical large CD30-expressing cells, leading to a misdiagnosis of primary cutaneous anaplastic large cell lymphoma and referral to our cutaneous lymphoma clinic. We report this case to demonstrate that reactive CD30+ infiltrate associated with molluscum contagiosum …

Jcph Presentations At The American Public Health Association Annual Conference 2019

JCPH at APHA 2019

No abstract provided.

Recovery Priorities In Degenerative Cervical Myelopathy: A Cross-Sectional Survey Of An International, Online Community Of Patients., Benjamin Davies, Oliver Mowforth, Iwan Sadler, Bizhan Aarabi, Brian Kwon, Shekar Kurpad, James S Harrop, Jefferson R Wilson, Robert Grossman, Michael G Fehlings, Mark Kotter

Department of Neurosurgery Faculty Papers

OBJECTIVES: To establish the recovery priorities of individuals suffering with degenerative cervical myelopathy (DCM).

DESIGN: A cross-sectional, observational study.

SETTING: Patients from across the world with a diagnosis of DCM accessed the survey over an 18-month period on Myelopathy.org, an international myelopathy charity.

PARTICIPANTS: 481 individuals suffering from DCM completed the online survey fully.

MAIN OUTCOME MEASURES: Functional recovery domains were established through qualitative interviews and a consensus process. Individuals were asked about their disease characteristics, including limb pain (Visual Analogue Scale) and functional disability (patient-derived version of the modified Japanese Orthopaedic Association score). Individuals ranked recovery domains (arm and …

Twitter And Academic Urology In The United States And Canada: A Comprehensive Assessment Of The Twitter-Verse In 2019., Thenappan Chandrasekar, Hanan Goldberg, Zachary Klaassen, Christopher J. Wallis, Joon Yau Leong, Spencer Liem, Seth Teplitsky, Rodrigo Noorani, Stacy Loeb

Department of Urology Faculty Papers

OBJECTIVE: To provide the first comprehensive analysis of the Twitter-verse amongst academic urologists and programs in North America.

METHODS: Using national accreditation and individual program websites, all active urology residency programs (USA & Canada) and academic Urology faculty at these programs were identified. Demographic data for each program (AUA section, resident class size) and physician (title, fellowship training, Scopus H-index and citations) were documented. Twitter metrics (Twitter handle, date joined, # tweets, # followers, # following, likes) for programs and physicians were catalogued (data capture: March-April 2019). Descriptive analyses and temporal trends in Twitter utilization amongst programs and physician were …

Which Student Characteristics Are Most Important In Determining Clinical Honors In Clerkships? A Teaching Ward Attending Perspective., Lauren Nicholas Herrera, Ryan Khodadadi, Erinn Schmit, James Willig, Andrew Hoellein, Christopher Knudson, Karen Law, Nina Mingioni, Katherine Walsh, Carlos Estrada, Winter Williams

Division of Internal Medicine Faculty Papers & Presentations

PURPOSE: To explore faculty perspectives on which characteristics of high-performing clerkship students are most important when determining an honors or top grade designation for clinical performance.

METHOD: In 2016-2017, the authors surveyed faculty (teaching ward attendings) for internal medicine clerkships and 1 pediatrics clerkship in inpatient settings at 5 U.S. academic medical centers. Survey items were framed around competencies, 24 student characteristics, and attitudes toward evaluation. Factor analysis examined constructs defining high-performing students.

RESULTS: Of 516 faculty invited, 319 (62%) responded. The top 5 characteristics as rated by respondents were taking ownership, clinical reasoning, curiosity, dependability, and high ethical standards …

Effect Of Verbal Directions On Grip Strength Evaluated Using The Handheld Dynamometer, Laura Walsh, Otd, Otr/L, Cht, Marie-Christine Potvin, Phd, Otr/L

Department of Occupational Therapy Faculty Papers

Background: Grip strength measurement using the handheld dynamometer is a key aspect of the evaluation of an upper extremity injury. The handheld dynamometer manufacturer has established research-based guidelines outlining body positioning during grip strength measurement. However, verbal direction guidelines, while provided, have not yet been shown to be most effective through research. This study seeks to determine whether the use of one of two types of verbal directions, with and without encouragements, resulted in greater grip strength as measured by the handheld dynamometer.

Method: The grip strength of healthy females (n = 60) was compared using two sets of prerecorded …

Aneurysm Formation, Growth, And Rupture: The Biology And Physics Of Cerebral Aneurysms., Pavlos Texakalidis, Ahmad Sweid, Nikolaos Mouchtouris, Eric C. Peterson, Chrissa Sioka, Leonardo Rangel-Castilla, John Reavey-Cantwell, Pascal Jabbour

Department of Neurosurgery Faculty Papers

Cerebral aneurysms (CAs) are characterized by a pathological wall structure with internal elastic lamina and media disruption, which leads to focal weakened pouches of the arterial wall. The prevalence of unruptured CAs has been estimated to be 2%-5% in the general population. During the past few decades, the pathophysiological mechanisms behind the formation, growth, and rupture of CAs have been the focus of numerous research studies. In the present review, we have summarized the inflammatory pathways, genetics, and risk factors for the formation, growth, and rupture of CAs. In addition, we have discussed the concepts of geometric indexes, flow patterns, …

Comparing Record Linkage Software Programs And Algorithms Using Real-World Data., Alan F. Karr, Matthew T. Taylor, Suzanne L. West, Soko Setoguchi, Tzuyung D. Kou, Tobias Gerhard, Daniel B. Horton

Student Papers, Posters & Projects

Linkage of medical databases, including insurer claims and electronic health records (EHRs), is increasingly common. However, few studies have investigated the behavior and output of linkage software. To determine how linkage quality is affected by different algorithms, blocking variables, methods for string matching and weight determination, and decision rules, we compared the performance of 4 nonproprietary linkage software packages linking patient identifiers from noninteroperable inpatient and outpatient EHRs. We linked datasets using first and last name, gender, and date of birth (DOB). We evaluated DOB and year of birth (YOB) as blocking variables and used exact and inexact matching methods. …

Silymarin In Non-Cirrhotics With Non-Alcoholic Steatohepatitis: A Randomized, Double-Blind, Placebo Controlled Trial., Victor J. Navarro, Steven H. Belle, Massimo D'Amato, Nezam Adfhal, Elizabeth M. Brunt, Michael W. Fried, K. Rajender Reddy, Abdus S. Wahed, Stephen Harrison

Division of Gastroenterology and Hepatology Faculty Papers

The botanical product silymarin, an extract of milk thistle, is commonly used by patients to treat chronic liver disease and may be a treatment for NASH due to its antioxidant properties. We aimed to assess the safety and efficacy of higher than customary doses of silymarin in non-cirrhotic patients with NASH. This exploratory randomized double-blind placebo controlled multicenter Phase II trial tested a proprietary standardized silymarin preparation (Legalon®, Rottapharm|Madaus, Mylan) and was conducted at 5 medical centers in the United States. Eligible adult patients had liver biopsy within 12 months showing NASH without cirrhosis with NAFLD Activity Score (NAS) ≥4 …

Excision Repair Cross-Complementing Group-1 (Ercc1) Induction Kinetics And Polymorphism Are Markers Of Inferior Outcome In Patients With Colorectal Cancer Treated With Oxaliplatin., Devika Rao, Atrayee Basu Mallick, Titto Augustine, Cecilia Daroqui, Jeeshan Jiffry, Amartej Merla, Imran Chaudhary, Raviraja Seetharam, Arjun Sood, Srikanth Gajavelli, Santiago Aparo, Lakshmi Rajdev, Andreas Kaubisch, Jennifer Chuy, Abdissa Negassa, John M. Mariadason, Radhashree Maitra, Sanjay Goel

Department of Medical Oncology Faculty Papers

Background: ERCC1, a component of nucleotide excision repair pathway, is known to repair DNA breaks induced by platinum drugs. We sought to ascertain if ERCC1 expression dynamics and a single nucleotide polymorphism (SNP) rs11615 are biomarkers of sensitivity to oxaliplatin therapy in patients with colorectal cancer (CRC).

Methods: Western blot and qPCR for ERCC1 expression was performed from PBMCs isolated from patients receiving oxaliplatin-based therapy at specified timepoints. DNA was also isolated from 59 biorepository specimens for SNP analysis. Clinical benefit was determined using progression free survival (PFS) for metastatic CRC.

Results: ERCC1 was induced in PBMC in response to …

Perioperative Use Of Renin-Angiotensin System Inhibitors And Outcomes In Patients Undergoing Cardiac Surgery., Qian Ding, Zugui Zhang, Hong Liu, Huang Nie, Mark Berguson, Jordan E. Goldhammer, Nilas Young, Douglas Boyd, Rohinton Morris, Jianzhong Sun

Department of Anesthesiology Faculty Papers

It remains disputable about perioperative use of renin-angiotensin system inhibitors (RASi) and their outcome effects. This multicenter retrospective cohort study examines association between use of perioperative RASi and outcomes in patients undergoing coronary artery bypass graft and/or valve surgery. After the exclusion, the patients are divided into 2 groups with or without preoperative RASi (PreRASi, n = 8581), or 2 groups with or without postoperative RASi (PostRASi, n = 8130). With using of propensity scores matching to reduce treatment selection bias, the study shows that PreRASi is associated with a significant reduction in postoperative 30-day mortality compared with without one …

Neurological Conditions Associated With Spinal Cord Injury, Man Amanat, Alexander R. Vaccaro, Mona Salehi, Vafa Rahimi-Movaghar

Rothman Institute Faculty Papers

Background: Comorbid neurological conditions associated with spinal cord injury (SCI) significantly affect an individual’s quality of life, yet they are often under-rated. Recent reports suggest that SCI may predispose patients to develop other neurological disorders. We aim at providing an overview of the evidence of neurological conditions which are or seem resultant of SCI.

Methods: We conducted a literature review using PUBMED and GOOGLE SCHOLAR to evaluate the occurrence of different neurological disorders in people with SCI.

Results: Individuals with SCI seem at an increased risk of stroke, cognitive impairment, dementia, multiple sclerosis, Parkinson’s disease, restless leg syndrome, and seizures. …

Smart Lighting Clinical Testbed Pilot Study On Circadian Phase Advancement, Joseph D. Gleason, Meeko Oishi, Michelle Simkulet, Arunas Tuzikas, John P. Hanifin, George C. Brainard, S. R.J. Brueck, Robert F. Karlicek, Jr., Lee K. Brown

Department of Neurology Faculty Papers

Objective: Lighting is a strong synchronizer for circadian rhythms, which in turn drives a wide range of biological functions. The objective of our work is a) to construct a clinical in-patient testbed with smart lighting, and b) evaluate its feasibility for use in future clinical studies.

Methods: A feedback capable, variable spectrum lighting system was installed at the University of New Mexico Hospital. The system consists of variable spectrum lighting troffers, color sensors, occupancy sensors, and computing and communication infrastructure. We conducted a pilot study to demonstrate proof of principle, that 1) this new technology is capable of providing continuous …

No Meaningful Drug Interactions With Doravirine, Lamivudine And Tenofovir Disoproxil Fumarate Co-Administration., Matt S. Anderson, Jocelyn Gilmartin, Li Fan, Ka Lai Yee, Walter K. Kraft, Ilias Triantafyllou, Christina Reitmann, Ying Guo, Rachael Liu, Marian Iwamoto

Department of Pharmacology and Experimental Therapeutics Faculty Papers

BACKGROUND: Doravirine (DOR) is a novel non-nucleoside reverse transcriptase inhibitor available as a single tablet and a three-drug combination with lamivudine (3TC) and tenofovir disoproxil fumarate (TDF) to treat HIV-1 infection. These analyses assessed pharmacokinetic (PK) interactions with co-administration.

METHODS: Two trials were conducted. Study 1: two-period, fixed-sequence; 8 healthy participants; Period 1, DOR 100 mg followed by ≥7-day washout; Period 2, TDF 300 mg once daily for 18 days, co-administration of DOR 100 mg on day 14. Study 2: three-period, crossover, 15 healthy participants; Treatment A, DOR 100 mg; Treatment B, 3TC 300 mg + TDF 300 mg; Treatment …

Non-Parametric Combination Analysis Of Multiple Data Types Enables Detection Of Novel Regulatory Mechanisms In T Cells Of Multiple Sclerosis Patients., Sunjay Jude Fernandes, Hiromasa Morikawa, Ewoud Ewing, Sabrina Ruhrmann, Rubin Narayan Joshi, Vincenzo Lagani, Nestoras Karathanasis, Mohsen Khademi, Nuria Planell, Angelika Schmidt, Ioannis Tsamardinos, Tomas Olsson, Fredrik Piehl, Ingrid Kockum, Maja Jagodic, Jesper Tegnér, David Gomez-Cabrero

Computational Medicine Center Faculty Papers

Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system with prominent neurodegenerative components. The triggering and progression of MS is associated with transcriptional and epigenetic alterations in several tissues, including peripheral blood. The combined influence of transcriptional and epigenetic changes associated with MS has not been assessed in the same individuals. Here we generated paired transcriptomic (RNA-seq) and DNA methylation (Illumina 450 K array) profiles of CD4+ and CD8+ T cells (CD4, CD8), using clinically accessible blood from healthy donors and MS patients in the initial relapsing-remitting and subsequent secondary-progressive stage. By integrating the output of a …

Patient Experience And Challenges In Group Concept Mapping For Clinical Research., Geoffrey D. Mills, Marianna Lanoue, Alexzandra T. Gentsch, Amanda M.B. Doty, Amy Cunningham, Garrison Nord, Kristin L. Rising

Department of Emergency Medicine Faculty Papers

BACKGROUND AND OBJECTIVE: Group concept mapping (GCM) is a research method that engages stakeholders in generating, structuring and representing ideas around a specific topic or question. GCM has been used with patients to answer questions related to health and disease but little is known about the patient experience as a participant in the process. This paper explores the patient experience participating in GCM as assessed with direct observation and surveys of participants.

METHODS: This is a secondary analysis performed within a larger study in which 3 GCM iterations were performed to engage patients in identifying patient-important outcomes for diabetes care. …

Identification Of Emergency Care-Sensitive Conditions And Characteristics Of Emergency Department Utilization., Anita A. Vashi, Tracy Urech, Brendan Carr, Liberty Greene, Theodore Warsavage, Renee Hsia, Steven M. Asch

Department of Emergency Medicine Faculty Papers

Importance: Monitoring emergency care quality requires understanding which conditions benefit most from timely, quality emergency care.

Objectives: To identify a set of emergency care-sensitive conditions (ECSCs) that are treated in most emergency departments (EDs), are associated with a spectrum of adult age groups, and represent common reasons for seeking emergency care and to provide benchmark national estimates of ECSC acute care utilization.

Design, Setting, and Participants: A modified Delphi method was used to identify ECSCs. In a cross-sectional analysis, ECSC-associated visits by adults (aged ≥18 years) were identified based on International Statistical Classification of Diseases, Tenth Revision, Clinical Modification diagnosis …

The Case For Patient Navigation In Lung Cancer Screening In Vulnerable Populations: A Systematic Review., Christine S Shusted, Julie A Barta, Michael Lake, Rickie Brawer, Brooke Ruane, Teresa E Giamboy, Baskaran Sundaram, Nathaniel R Evans, Ronald E Myers, Gregory C Kane

Division of Pulmonary and Critical Care Medicine Faculty Papers

Patient navigation has been proposed to combat cancer disparities in vulnerable populations. Vulnerable populations often have poorer cancer outcomes and lower levels of screening, adherence, and treatment. Navigation has been studied in various cancers, but few studies have assessed navigation in lung cancer. Additionally, there is a lack of consistency in metrics to assess the quality of navigation programs. The authors conducted a systematic review of published cancer screening studies to identify quality metrics used in navigation programs, as well as to recommend standardized metrics to define excellence in lung cancer navigation. The authors included 26 studies evaluating navigation metrics …

Functionalization Of Cd36 Cardiovascular Disease And Expression Associated Variants By Interdisciplinary High Throughput Analysis., Namrata Madan, Andrew R. Ghazi, Xianguo Kong, Edward S. Chen, Chad A. Shaw, Leonard C. Edelstein

Department of Medicine Faculty Papers

CD36 is a platelet membrane glycoprotein whose engagement with oxidized low-density lipoprotein (oxLDL) results in platelet activation. The CD36 gene has been associated with platelet count, platelet volume, as well as lipid levels and CVD risk by genome-wide association studies. Platelet CD36 expression levels have been shown to be associated with both the platelet oxLDL response and an elevated risk of thrombo-embolism. Several genomic variants have been identified as associated with platelet CD36 levels, however none have been conclusively demonstrated to be causative. We screened 81 expression quantitative trait loci (eQTL) single nucleotide polymorphisms (SNPs) associated with platelet CD36 expression …

Assessment Of The Risk And Characterization Of Non-Melanoma Skin Cancer In Kindler Syndrome: Study Of A Series Of 91 Patients., Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, Marcela Del Rio

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of …

Adopting The Direct Anterior Approach: Experience And Learning Curve In A Chinese Patient Population., Xiangpeng Kong, Luis Grau, Alvin Ong, Charlie Yang, Wei Chai

Rothman Institute Faculty Papers

BACKGROUND: There are concerns regarding the complications encountered during the learning curve when switching to a direct anterior approach (DAA) for total hip arthroplasty (THA). The purpose of our study is to report our outcomes and complications after adopting a new approach in a Chinese patient population.

METHODS: From 2016 to 2018, a single surgeon's first 100 cases with unilateral DAA for THA were reviewed. The patients were divided into 2 groups, the first 50 cases were designated as group A and the second 50 cases were designated as group B. The preoperative, intraoperative, and postoperative clinical data were analyzed. …

Matrix Metalloproteinase Activity In The Lung Is Increased In Hermansky-Pudlak Syndrome., Ross Summer, Rachana Krishna, Deleila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero

Center for Translational Medicine Faculty Papers

BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung condition called idiopathic pulmonary fibrosis (IPF). Although the activities of various matrix metalloproteinases (MMPs) are known to be dysregulated in IPF, it remains to be determined whether similar changes in these enzymes can be detected in HPS.

RESULTS: Here, we show that transcript and protein levels as well as enzymatic activities of MMP-2 and -9 are markedly increased in the lungs of mice carrying the HPS …

Prevalence Of Suspected Hereditary Cancer Syndromes And Germline Mutations Among A Diverse Cohort Of Probands Reporting A Family History Of Prostate Cancer: Toward Informing Cascade Testing For Men., Thenappan Chandrasekar, Laura Gross, Leonard G. Gomella, Sarah E. Hegarty, Joon Yau Leong, Veda N. Giri

Department of Urology Faculty Papers

BACKGROUND: Prostate cancer (PCa) is increasingly recognized as part of hereditary cancer syndromes (HCSs). HCS prevalence among diverse probands seeking genetic evaluation with PCa family history (FHx) has not been reported and has implications for cascade genetic testing.

OBJECTIVE: To evaluate the rates of HCSs among probands reporting PCa FHx and germline mutations among probands.

DESIGN, SETTING, AND PARTICIPANTS: A prospective genetic testing database queried for individuals with PCa FHx. Pedigrees analyzed for three HCSs: hereditary breast and ovarian cancer (HBOC), hereditary PCa, and Lynch syndrome.

OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Associations between HCS overall, and with plausible link to …

Blunted Evoked Prouroguanylin Endocrine Secretion In Chronic Constipation., Scott A. Waldman, Renata Tenenbaum, Henry C. Foehl, Peter Winkle, Patrick Griffin

Department of Pharmacology and Experimental Therapeutics Faculty Papers

OBJECTIVES: Prouroguanylin (ProUGN) in the intestine is cleaved to form uroguanylin (UGN), which stimulates guanylate cyclase C (GUCY2C), inducing cyclic guanosine monophosphate signaling. Paracrine release regulates fluid secretion, contributing to bowel function, whereas endocrine secretion evoked by eating forms a gut-brain axis, controlling appetite. Whereas hormone insufficiency contributes to hyperphagia in obesity, its contribution to the pathophysiology of constipation syndromes remains unexplored. Here, we compared circulating ProUGN and UGN in healthy subjects and in patients with chronic idiopathic constipation (CIC) and patients with irritable bowel syndrome with constipation (IBS-C).

METHODS: Circulating ProUGN and UGN levels were measured in 60 healthy …