Digital Commons Network^™

Low-Cost, High-Resolution Imaging For Detecting Cervical Precancer In Medically-Underserved Areas Of Texas, Sonia G Parra, Ana M Rodriguez, Katelin D Cherry, Richard A Schwarz, Rose M Gowen, Laura B Guerra, Andrea M Milbourne, Paul A Toscano, Susan P Fisher-Hoch, Kathleen M Schmeler, Rebecca R Richards-Kortum

Faculty, Staff and Student Publications

OBJECTIVE: Cervical cancer rates in the United States have declined since the 1940's, however, cervical cancer incidence remains elevated in medically-underserved areas, especially in the Rio Grande Valley (RGV) along the Texas-Mexico border. High-resolution microendoscopy (HRME) is a low-cost, in vivo imaging technique that can identify high-grade precancerous cervical lesions (CIN2+) at the point-of-care. The goal of this study was to evaluate the performance of HRME in medically-underserved areas in Texas, comparing results to a tertiary academic medical center.

METHODS: HRME was evaluated in five different outpatient clinical settings, two in Houston and three in the RGV, with medical providers …

Apples To Apples? Neural Correlates Of Emotion Regulation Differences Between High- And Low-Risk Adolescents, Michael T Perino, João F Guassi Moreira, Ethan M Mccormick, Eva H Telzer

2010-2019 OA Pubs

Adolescence has been noted as a period of increased risk taking. The literature on normative neurodevelopment implicates aberrant activation of affective and regulatory regions as key to inhibitory failures. However, many of these studies have not included adolescents engaging in high rates of risky behavior, making generalizations to the most at-risk populations potentially problematic. We conducted a comparative study of nondelinquent community (n = 24, mean age = 15.8 years, 12 female) and delinquent adolescents (n = 24, mean age = 16.2 years, 12 female) who completed a cognitive control task during functional magnetic resonance imaging, where behavioral inhibition was …

Flecainide Toxicity Resulting In Pacemaker Latency And Intermittent Failure To Capture, John M. Suffredini, Joshua Rutland, Peter Akpunonu, Regan Baum, John Catanzaro, Claude S. Elayi

Emergency Medicine Faculty Publications

BACKGROUND Flecainide is a class Ic antiarrhythmic agent used in the treatment of supraventricular and ventricular arrhythmias. It is associated with a potent adverse effect profile; however, the effects of flecainide toxicity in the setting of a pacemaker have not been well described. We describe a unique case of flecainide toxicity secondary to acute kidney injury in the setting of a dual-chamber pacemaker, resulting in ventricular capture latency and intermittent failure to capture.

CASE REPORT The patient was a 91-year-old female with a history of atrial fibrillation maintained in sinus rhythm on flecainide, who presented complaining of purple visual disturbances …

Mrd Response In Relapsed/Refractory Fl After Obinutuzumab Plus Bendamustine Or Bendamustine Alone In The Gadolin Trial, Christiane Pott, Laurie H Sehn, David Belada, John Gribben, Eva Hoster, Brad Kahl, Britta Kehden, Emmanuelle Nicolas-Virelizier, Nathalie Spielewoy, Guenter Fingerle-Rowson, Chris Harbron, Kirsten Mundt, Elisabeth Wassner-Fritsch, Bruce D Cheson

Open Access Publications

We report assessment of minimal residual disease (MRD) status and its association with outcome in rituximab-refractory follicular lymphoma (FL) in the randomized GADOLIN trial (NCT01059630). Patients received obinutuzumab (G) plus bendamustine (Benda) induction followed by G maintenance, or Benda induction alone. Patients with a clonal marker (t[14;18] translocation and/or immunoglobulin heavy or light chain rearrangement) detected at study screening were assessed for MRD at mid-induction (MI), end of induction (EOI), and every 6-24 months post-EOI/discontinuation by real-time quantitative PCR. At MI, 41/52 (79%) patients receiving G-Benda were MRD-negative vs. 17/36 (47%) patients receiving Benda alone (p = 0.0029). At EOI, …

Blood Leukocyte Dna Methylation Predicts Risk Of Future Myocardial Infarction And Coronary Heart Disease, Golareh Agha, Michael M Mendelson, Cavin K Ward-Caviness, Roby Joehanes, Tianxiao Huan, Rahul Gondalia, Elias Salfati, Jennifer A Brody, Giovanni Fiorito, Jan Bressler, Brian H Chen, Symen Ligthart, Simonetta Guarrera, Elena Colicino, Allan C Just, Simone Wahl, Christian Gieger, Amy R Vandiver, Toshiko Tanaka, Dena G Hernandez, Luke C Pilling, Andrew B Singleton, Carlotta Sacerdote, Vittorio Krogh, Salvatore Panico, Rosario Tumino, Yun Li, Guosheng Zhang, James D Stewart, James S Floyd, Kerri L Wiggins, Jerome I Rotter, Michael Multhaup, Kelly Bakulski, Steven Horvath, Philip S Tsao, Devin M Absher, Pantel Vokonas, Joel Hirschhorn, M Daniele Fallin, Chunyu Liu, Stefania Bandinelli, Eric Boerwinkle, Abbas Dehghan, Joel D Schwartz, Bruce M Psaty, Andrew P Feinberg, Lifang Hou, Luigi Ferrucci, Nona Sotoodehnia, Giuseppe Matullo, Annette Peters, Myriam Fornage, Themistocles L Assimes, Eric A Whitsel, Daniel Levy, Andrea A Baccarelli

Faculty, Staff and Student Publications

BACKGROUND: DNA methylation is implicated in coronary heart disease (CHD), but current evidence is based on small, cross-sectional studies. We examined blood DNA methylation in relation to incident CHD across multiple prospective cohorts.

METHODS: Nine population-based cohorts from the United States and Europe profiled epigenome-wide blood leukocyte DNA methylation using the Illumina Infinium 450k microarray, and prospectively ascertained CHD events including coronary insufficiency/unstable angina, recognized myocardial infarction, coronary revascularization, and coronary death. Cohorts conducted race-specific analyses adjusted for age, sex, smoking, education, body mass index, blood cell type proportions, and technical variables. We conducted fixed-effect meta-analyses across cohorts.

RESULTS: Among …

Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).

METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study via …

Advances In Gene Ontology Utilization Improve Statistical Power Of Annotation Enrichment, Eugene Waverly Hinderer Iii, Robert M. Flight, Rashmi Dubey, James N. Macleod, Hunter N. B. Moseley

Maxwell H. Gluck Equine Research Center Faculty Publications

Gene-annotation enrichment is a common method for utilizing ontology-based annotations in gene and gene-product centric knowledgebases. Effective utilization of these annotations requires inferring semantic linkages by tracing paths through edges in the ontological graph, referred to as relations. However, some relations are semantically problematic with respect to scope, necessitating their omission or modification lest erroneous term mappings occur. To address these issues, we created the Gene Ontology Categorization Suite, or GOcats—a novel tool that organizes the Gene Ontology into subgraphs representing user-defined concepts, while ensuring that all appropriate relations are congruent with respect to scoping semantics. Here, we demonstrate the …

Information Diffusion And Social Norms Are Associated With Infant And Young Child Feeding Practices In Bangladesh, Phuong H. Nguyen, Edward A. Frongillo Jr., Sunny S. Kim, Amanda A. Zongrone, Amir Jilani, Lan Mai Tran, Tina Sanghvi, Purnima Menon

Faculty Publications

Background

Interaction within mothers’ social networks can theoretically diffuse messages from interventions and campaigns into norms and practices for infant and young child feeding (IYCF).

Objectives

We hypothesized that mothers’ social networks, diffusion of information, and social norms differed in intensive [intensive interpersonal counseling (IPC), community mobilization (CM), and mass media (MM)] compared with nonintensive (standard IPC and less-intensive CM and MM) intervention areas, were associated with IYCF practices, and partly explained practice improvement.

Methods

We conducted household surveys at endline in 2014 and follow-up in 2016 (n = ∼2000 each round). We used multiple regression to test differences …

Hyperpolarized Helium 3 Mri In Mild-To-Moderate Asthma: Prediction Of Postbronchodilator Reversibility, Rachel L Eddy, Sarah Svenningsen, Christopher Licskai, David G Mccormack, Grace Parraga

Medical Biophysics Publications

Background: Longitudinal progression to irreversible airflow limitation occurs in approximately 10% of patients with asthma, but it is difficult to identify patients who are at risk for this transition.

Purpose: To investigate 6-year longitudinal changes in hyperpolarized helium 3 (3He) MRI ventilation defects in study participants with mild-to-moderate asthma and identify predictors of longitudinal changes in postbronchodilator forced expiratory volume in 1 second (FEV1) reversibility

Materials and Methods: Spirometry and hyperpolarized 3He MRI were evaluated in participants with mild-to-moderate asthma in two prospectively planned visits approximately 6 years apart. Participants underwent methacholine challenge at baseline (January 2010 to April 2011) …

Brain Activity Associated With Dual-Task Performance Of Ankle Motor Control During Cognitive Challenge., Sue Peters, Janice J Eng, Teresa Liu-Ambrose, Michael R Borich, Elizabeth Dao, Ameen Amanian, Lara A Boyd

Physical Therapy Publications

INTRODUCTION: Skilled Ankle motor control is frequently required while performing secondary cognitively demanding tasks such as socializing and avoiding obstacles while walking, termed "Dual tasking." It is likely that Dual-task performance increases demand on the brain, as both motor and cognitive systems require neural resources. The purpose of this study was to use functional MRI to understand which brain regions are involved in resolving Dual-task interference created by requiring high levels of Ankle motor control during a cognitive task.

METHODS: Using functional MRI, brain activity was measured in sixteen young adults during performance of visually cued Ankle plantar flexion to …

Effectiveness Of High-Intensity Interval Training For Fitness And Mobility Post Stroke: A Systematic Review., Joshua C. Wiener, Amanda Mcintyre, Scott Janssen, Jeffrey Ty Chow, Cristina Batey, Robert Teasell

Epidemiology and Biostatistics Publications

OBJECTIVE: To evaluate the evidence on the effectiveness of high-intensity interval training (HIIT) in improving fitness and mobility post stroke. TYPE: Systematic review.

LITERATURE SURVEY: Medline, Embase, CINAHL, PsycINFO, and Scopus were searched for articles published in English up to January 2018.

METHODOLOGY: Studies were included if the sample was adult human participants with stroke, the sample size was ≥3, and participants received >1 session of HIIT. Study and participant characteristics, treatment protocols, and results were extracted.

SYNTHESIS: Six studies with a total of 140 participants met inclusion criteria: three randomized controlled trials and three pre-post studies. HIIT protocols ranged …

Measurement Repeatability Of 18 F-Fdg Pet/Ct Versus 18 F-Fdg Pet/Mri In Solid Tumors Of The Pelvis, Tyler J Fraum, Kathryn J Fowler, John P Crandall, Richard A Laforest, Amber Salter, Hongyu An, Michael A Jacobs, Perry W Grigsby, Farrokh Dehdashti, Richard L Wahl

Open Access Publications

Knowledge of the within-subject variability of

Intervention Response To The Trauma-Exposed, Female Juvenile Offender: A Review Of Effectiveness In Reducing Recidivism, Ashley M. Thomann

Social Work Theses - Archive

When analyzed by general factors of effectiveness (Lispsey, 2009) and concepts of gender-responsivity (Day, Zahn, & Tichavsky, 2015) that target the needs of female juvenile-justice involved youth, reviewed studies show the concomitant need to address trauma-based mental health concerns with attention to the quality of implementation and appropriateness of setting in which the intervention is effectuated. Findings show effective intervention for this population aims to target the youth's negative internal mechanisms related to trauma-subsequent psychosocial problems. These studies further suggest that trauma-sensitive modalities have the potential to mitigate further risk of problematic external behaviors. This position of this review is …

Neoadjuvant Folfirinox In Patients With Borderline Resectable Pancreatic Cancer: A Systematic Review And Patient-Level Meta-Analysis, Quisette P Janssen, Andrea Wang-Gillam, Et Al.

2010-2019 OA Pubs

BACKGROUND: FOLFIRINOX is a standard treatment for metastatic pancreatic cancer patients. The effectiveness of neoadjuvant FOLFIRINOX in patients with borderline resectable pancreatic cancer (BRPC) remains debated.

METHODS: We performed a systematic review and patient-level meta-analysis on neoadjuvant FOLFIRINOX in patients with BRPC. Studies with BRPC patients who received FOLFIRINOX as first-line neoadjuvant treatment were included. The primary endpoint was overall survival (OS), and secondary endpoints were progression-free survival, resection rate, R0 resection rate, and grade III-IV adverse events. Patient-level survival outcomes were obtained from authors of the included studies and analyzed using the Kaplan-Meier method.

RESULTS: We included 24 studies …

"Camouflaging" In Women With Autistic Traits: Measures, Mechanisms, And Mental Health Implications, Jonathan S. Beck

Theses and Dissertations

Autistic traits are associated with frequent psychological distress and everyday functional challenges. Some individuals with autistic traits “camouflage” these traits during social interactions by effortfully engaging in “typical” social behaviors. Camouflaging seems to be especially common in autistic girls and women. Emerging evidence proposes a role for camouflaging behaviors in poorer mental health and daily functioning. Furthermore, camouflaging efforts may delay receipt of a proper diagnosis and access to appropriate mental health care. Despite their clinical significance, camouflaging efforts remain difficult to quantify, and the mechanisms and impacts of camouflaging are poorly understood. This study aimed to compare multiple methods …

Host And Viral Mechanisms Of Congenital Zika Syndrome, Brooke Liang, José Paulo Guida, Maria Laura Costa Do Nascimento, Indira U Mysorekar

Open Access Publications

In 2015-2016, in the Americas, and especially in northeast Brazil, a significant number of cases of microcephaly and other congenital brain abnormalities were linked with an outbreak of Zika virus (ZIKV) infection in pregnant women. While maternal symptoms of ZIKV are generally mild and self-limiting, clinical presentation in fetuses and newborns infected is extensive and includes microcephaly, decreased cortical development, atrophy and hypoplasia of the cerebellum and cerebellar vermis, arthrogryposis, and polyhydramnios. The term congenital ZIKV syndrome (CZS) was introduced to describe the range of findings associated with maternal-fetal ZIKV transmission. ZIKV is primarily transmitted by

Health Coaching To Encourage Obese Adults To Enroll In Commercially-Available Weight Management Programs: The Path To Health Study, Natalia I Heredia, Minjae Lee, Kevin O Hwang, Belinda M Reininger, Maria E Fernandez, Lorna H Mcneill

Faculty, Staff and Student Publications

Physicians are recommended to screen and refer obese patients to weight management programs (WMPs). There are often limited referral options for physicians, though commercially-available WMPs could be a potential solution. The purpose of this study (Path to Health) was to evaluate the efficacy of health coaching to promote enrollment in commercially-available WMPs through a two-arm, RCT with obese patients (n = 168) randomly assigned to intervention (n = 84) or control groups (n = 84). Intervention participants received phone health coaching to help them select and enroll in WMPs. We collected data on program enrollment, weight, self-reported physical activity (PA), …

The Society Of Abdominal Radiology At 10 Years: Reflections, Status Report, And Look To The Future, Manju Ambelil, David M Saulino, Atilla Ertan, Andrew W Dupont, Mamoun Younes

Faculty, Staff and Student Publications

CONTEXT.—: Recent studies examining immunohistochemical staining of colorectal biopsies for cytomegalovirus (CMV) reported that some cases showed only occasional small positive nuclei that were called equivocal for CMV.

OBJECTIVES.—: To determine the extent and clinical significance of equivocal CMV staining in colorectal biopsies.

DESIGN.—: Two-hundred twenty-one consecutive cases of colon and rectal biopsies that were stained for CMV by immunohistochemistry were retrieved from our files and reviewed. Staining results were recorded as negative, unequivocal, or equivocal. Results were correlated with clinicopathologic data, results of polymerase chain reaction studies for CMV, and treatment history.

RESULTS.—: Fifty-two cases (24% of all tested, …

Visualization Of Cardiac Implantable Electronic Device Data For Older Adults Using Participatory Design., Ryan Ahmed, Tammy Toscos Phd, Romisa Rohani Ghahari, Richard J Holden, Elizabeth Martin, Shauna Wagner, Carly Daley, Amanda Coupe, Michael Mirro Md

Health Services and Informatics Research

Patients with heart failure (HF) are commonly implanted with cardiac resynchronization therapy (CRT) devices as part of their treatment. Presently, they cannot directly access the remote monitoring (RM) data generated from these devices, representing a missed opportunity for increased knowledge and engagement in care. However, electronic health data sharing can create information overload issues for both clinicians and patients, and some older patients may not be comfortable using the technology (i.e., computers and smartphones) necessary to access this data. To mitigate these problems, patients can be directly involved in the creation of data visualization tailored to their preferences and needs, …

Selection Biases In Technology-Based Intervention Research: Patients' Technology Use Relates To Both Demographic And Health-Related Inequities., Tammy Toscos Phd, Michelle Drouin, Jessica Pater, Mindy Flanagan, Rachel Pfafman, Michael Mirro Md, Facc, Fhrs, Faha

Health Services and Informatics Research

OBJECTIVE: Researchers conduct studies with selection biases, which may limit generalizability and outcomes of intervention research. In this methodological reflection, we examined demographic and health characteristics of implantable cardioverter defibrillator patients who were excluded from an informatics intervention due to lack of access to a computer and/or the internet.

MATERIALS AND METHODS: Using information gathered from surveys and electronic health records, we compared the intervention group to excluded patients on demographic factors, computer skills, patient activation, and medical history.

RESULTS: Excluded patients were older, less educated, less engaged and activated in their health, and had worse health (ie, more medical …

Rheumatoid Arthritis-Relevant Dna Methylation Changes Identified In Acpa-Positive Asymptomatic Individuals Using Methylome Capture Sequencing., Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M T Greenwood, Marvin J. Fritzler, Philip Awadalla, T Pastinen, Sasha Bernatsky

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To compare DNA methylation in subjects positive vs negative for anti-citrullinated protein antibodies (ACPA), a key serological marker of rheumatoid arthritis (RA) risk.

METHODS: With banked serum from a random subset (N = 3600) of a large general population cohort, we identified ACPA-positive samples and compared them to age- and sex-matched ACPA-negative controls. We used a custom-designed methylome panel to conduct targeted bisulfite sequencing of 5 million CpGs located in regulatory or hypomethylated regions of DNA from whole blood (red blood cell lysed). Using binomial regression models, we investigated the differentially methylated regions (DMRs) between ACPA-positive vs ACPA-negative subjects. …

Fetal Fibronectin Testing For Reducing The Risk Of Preterm Birth., Vincenzo Berghella, Gabriele Saccone

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Fetal fibronectin (FFN) is an extracellular matrix glycoprotein localized at the maternal-fetal interface of the amniotic membranes, between chorion and decidua, where it is concentrated in this area between decidua and trophoblast. In normal conditions, FFN is found at very low levels in cervicovaginal secretions. Levels greater than or equal to 50 ng/mL at or after 22 weeks have been associated with an increased risk of spontaneous preterm birth. In fact, FFN is one of the best predictors of preterm birth in all populations studied so far, and can help in selecting which women are at significant risk for …

Comparison Of The Use Of Wireless Capsule Endoscopy With Magnetic Resonance Enterography In Children With Inflammatory Bowel Disease., Nadia Mazen Hijaz, Thomas M. Attard, Jennifer Colombo, Neil J. Mardis, Craig A. Friesen

Manuscripts, Articles, Book Chapters and Other Papers

Background: Magnetic resonance enterography (MRE) and wireless capsule endoscopy (WCE) are equally accepted modalities for noninvasive screening of small bowel involvement (SBI) in children with Crohn's disease (CD) and indeterminate colitis (IC) albeit there is a paucity of data comparing the two and thereby guiding the clinician in selecting the ideal diagnostic approach. Therefore, the goal of this study is to provide additional evidence for capsule endoscopy role in the evaluation of established Crohn's disease exacerbation compared to MRE in relation to Pediatric Crohn's Disease Activity Index (PCDAI), and histological indices.

Aim: To prospectively compare the findings of MRE and …

Demographic, Clinical, And Treatment Characteristics Of The Juvenile Primary Fibromyalgia Syndrome Cohort Enrolled In The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Jennifer E. Weiss, Kenneth N. Schikler, Alexis D. Boneparth, Mark Connelly, Carra Registry Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: To describe the demographic, clinical, and treatment characteristics of youth diagnosed with juvenile primary fibromyalgia syndrome (JPFS) who are seen in pediatric rheumatology clinics.

METHODS: Information on demographics, symptoms, functioning, and treatments recommended and tried were obtained on patients with JPFS as part of a multi-site patient registry (the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry). Data were summarized using descriptive statistics. In a subset of patients completing registry follow-up visits, changes in symptoms, pain, and functioning were evaluated using growth modeling.

RESULTS: Of the 201 patients with JPFS enrolled in the registry, most were Caucasian/White (85%), non-Hispanic …

Do Employees From Less-Healthy Communities Use More Care And Cost More? Seeking To Establish A Business Case For Investment In Community Health., Russell K. Mcintire, Martha C. Romney, Greg Alonzo, Jill Hutt, Lauren Bartolome, Greg Wood, Gary Klein, Neil I. Goldfarb

College of Population Health Faculty Papers

INTRODUCTION: Few studies have examined the impact of community health on employers. We explored whether employed adults and their adult dependents living in less-healthy communities in the greater Philadelphia region used more care and incurred higher costs to employers than employees from healthier communities.

METHODS: We used a multi-employer database to identify adult employees and dependents with continuous employment and mapped them to 31 zip code regions. We calculated community health scores at the regional level, by using metrics similar to the Robert Wood Johnson Foundation (RWJF) County Health Rankings but with local data. We used descriptive analyses and multilevel …

Low Frequency Of Regulatory B-Cells And Increased Cd4+ And Cd8+ Interferon-Γ-Producing Cells In Patients With Tropical Spastic Paraparesis Associated With Human T-Cell Lymphotropic Virus Type, Yulieth Cristina Bermúdez Burbano, Angie Vanessa Caicedo Paz, Cristhian Camilo Rivera Caldon, Juan Sebastián Rodríguez Constain, Gloria Inés Ávila Gonzáles, Julio César Klínger Hernández, Nancy Marin-Agudelo, Rosa Amalia Dueñas-Cuellar, Victoria Eugenia Niño Castaño

Open Access Publications

INTRODUCTION: Tropical spastic paraparesis/HTLV-1 associated myelopathy (TSP/HAM) is a disease caused by human T-cell lymphotropic virus type 1 (HTLV-I) that mainly infects CD4 T cells-for example, those of the CD4+CD25hiFOXP3+ [Treg] phenotype-where it inhibits forkhead box protein P3 (FOXP3) expression and promotes interferon-γ (IFN-γ) expression. However, the role it exerts on regulatory B cells (CD19+CD24hiCD38hi; Breg) is unknown.

METHODS: The frequencies of Treg and Breg cells was evaluated and the Th1 profiles were assessed in TSP/HAM patients and healthy control subjects.

RESULTS: Low percentages of Breg cells and high production of IFN-γ were observed in patients compared to those in …

Low Frequency Of Regulatory B-Cells And Increased Cd4+ And Cd8+ Interferon-Γ-Producing Cells In Patients With Tropical Spastic Paraparesis Associated With Human T-Cell Lymphotropic Virus Type, Yulieth Cristina Bermúdez Burbano, Angie Vanessa Caicedo Paz, Cristhian Camilo Rivera Caldon, Juan Sebastián Rodríguez Constain, Gloria Inés Ávila Gonzáles, Julio César Klínger Hernández, Nancy Marin-Agudelo, Rosa Amalia Dueñas-Cuellar, Victoria Eugenia Niño Castaño

Open Access Publications

INTRODUCTION: Tropical spastic paraparesis/HTLV-1 associated myelopathy (TSP/HAM) is a disease caused by human T-cell lymphotropic virus type 1 (HTLV-I) that mainly infects CD4 T cells-for example, those of the CD4+CD25hiFOXP3+ [Treg] phenotype-where it inhibits forkhead box protein P3 (FOXP3) expression and promotes interferon-γ (IFN-γ) expression. However, the role it exerts on regulatory B cells (CD19+CD24hiCD38hi; Breg) is unknown.

METHODS: The frequencies of Treg and Breg cells was evaluated and the Th1 profiles were assessed in TSP/HAM patients and healthy control subjects.

RESULTS: Low percentages of Breg cells and high production of IFN-γ were observed in patients compared to those in …

Distinct Patterns Of Default Mode And Executive Control Network Circuitry Contribute To Present And Future Executive Function In Older Adults, Christopher A. Brown, Frederick A. Schmitt, Charles D. Smith, Brian T. Gold

Neuroscience Faculty Publications

Executive function (EF) performance in older adults has been linked with functional and structural profiles within the executive control network (ECN) and default mode network (DMN), white matter hyperintensities (WMH) burden and levels of Alzheimer's disease (AD) pathology. Here, we simultaneously explored the unique contributions of these factors to baseline and longitudinal EF performance in older adults. Thirty-two cognitively normal (CN) older adults underwent neuropsychological testing at baseline and annually for three years. Neuroimaging and AD pathology measures were collected at baseline. Separate linear regression models were used to determine which of these variables predicted composite EF scores at baseline …

Developing Comparative Effectiveness Studies For A Rare, Understudied Pediatric Disease: Lessons Learned From The Carra Juvenile Localized Scleroderma Consensus Treatment Plan Pilot Study., Suzanne C. Li, Robert C. Fuhlbrigge, Ronald M. Laxer, Elena Pope, Maria Ibarra, Katie Stewart, Thomas Mason, Mara L. Becker, Sandy Hong, Fatma Dedeoglu, Kathryn S. Torok, C Egla Rabinovich, Polly J. Ferguson, Marilynn Punaro, Brian M. Feldman, Tracy Andrews, Gloria C. Higgins, Carra Registry Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: We designed and initiated a pilot comparative effectiveness study for juvenile localized scleroderma (jLS), for which there is limited evidence on best therapy. We evaluated the process we used, in relation to the specific protocol and to the general task of identifying strategies for implementing studies in rare pediatric diseases.

METHODS: This was a prospective, multi-center, observational cohort study of 50 jLS patients initiating treatment, designed and conducted by the jLS group of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) from 2012 to 2015. A series of virtual and physical meetings were held to design the study, standardize …

New Insights Into Dna Methylation Signatures: Smarca2 Variants In Nicolaides-Baraitser Syndrome., Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes in DNA methylation (DNAm) in affected individuals termed DNAm signatures.

METHODS: Genome-wide DNAm was assessed in whole-blood samples from the individuals with pathogenic SMARCA2 variants and NCBRS diagnosis (n = 8) compared to neurotypical controls (n = 23) using the Illumina MethylationEPIC array. Differential methylated CpGs between groups (DNAm signature) were identified and used to generate a model enabling classification …