Medicine and Health Sciences Commons^™

Hla-Dpb1 And Dpb2 Are Genetic Loci For Systemic Sclerosis: A Genome-Wide Association Study In Koreans With Replication In North Americans, Xiaodong Zhou, Jong Eun Lee, Frank C Arnett, Momiao Xiong, Min Young Park, Yeon Kyeong Yoo, Eun Soon Shin, John D Reveille, Maureen D Mayes, Jin Hyun Kim, Ran Song, Ji Yong Choi, Ji Ah Park, Yun Jong Lee, Eun Young Lee, Yeong Wook Song, Eun Bong Lee

Journal Articles

OBJECTIVE: To identify systemic sclerosis (SSc) susceptibility loci via a genome-wide association study.

METHODS: A genome-wide association study was performed in 137 patients with SSc and 564 controls from Korea using the Affymetrix Human SNP Array 5.0. After fine-mapping studies, the results were replicated in 1,107 SSc patients and 2,747 controls from a US Caucasian population.

RESULTS: The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). Subtyping analysis of HLA-DPB1 showed that DPB1*1301 (P=7.61x10(-8)) and DPB1*0901 (P=2.55x10(-5)) were …

Chromosomal Anomalies Influence Parental Treatment Decisions In Relation To Prenatally Diagnosed Congenital Heart Disease., Sinai C. Zyblewski, Elizabeth G. Hill, Girish S. Shirali, Andrew Atz, Geoffrey Forbus, Javier Gonzalez, Anthony Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental intent to treat: maternal age, race, insurance status, obstetric history, fetal gender, univentricular versus biventricular cardiac physiology, and fetal chromosomal abnormality. Uni- and multivariable logistic regression analyses were performed. In the review, 252 consecutive cases of prenatally diagnosed CHD were identified. Of these, 204 women pursued full medical treatment, whereas …

Sexuality And Persons With Down Syndrome. A Study From Brazil, Bruna Marques Bononi, Maria José Carvalho Sant'anna, André Chao Vasconcellos De Oliveira, Tadeu Silveira Renattini, Carla Franchi Pinto, Maria Lúcia Passarelli, Verônica Coates, Hatim A. Omar

Pediatrics Faculty Publications

In recent years, important gains and changes have been observed in the life of teenagers with Down syndrome (DS) with increased inclusion into society. This review will discuss adolescence and sexuality in teenagers with DS from a descriptive study of 50 patients with DS between the ages of 10 and 20 years. The mean age was 13.5 years, 50% females; 86% went to school with 62.2% in school for over six years. Of the patients that attended school, 60% went to special education school and only 10% read and wrote correctly. In an evaluation of autonomy, 66% took showers, 78% …

Epidemiology And Outcomes Of Candidemia In 2019 Patients: Data From The Prospective Antifungal Therapy Alliance Registry., David L Horn, Dionissios Neofytos, Elias J Anaissie, Jay A Fishman, William J Steinbach, Ali J Olyaei, Kieren A Marr, Michael A Pfaller, Chi-Hsing Chang, Karen M Webster

Jefferson Hospital Staff Papers and Presentations

BACKGROUND: Candidemia remains a major cause of morbidity and mortality in the health care setting, and the epidemiology of Candida infection is changing.

METHODS: Clinical data from patients with candidemia were extracted from the Prospective Antifungal Therapy (PATH) Alliance database, a comprehensive registry that collects information regarding invasive fungal infections. A total of 2019 patients, enrolled from 1 July 2004 through 5 March 2008, were identified. Data regarding the candidemia episode were analyzed, including the specific fungal species and patient survival at 12 weeks after diagnosis.

RESULTS: The incidence of candidemia caused by non-Candida albicans Candida species (54.4%) was higher …

It Is More Than Just A Reproductive Healthcare Visit: Experiences From An Adolescent Medicine Clinic, Marlene B. Huff, Kimberly K. Mcclanahan, Heather A. Brown, Hatim A. Omar

Pediatrics Faculty Publications

The gynecologist may be the only physician that an adolescent depends on for primary and reproductive healthcare services. Because adolescent females often make personal healthcare decisions without the benefit of supportive parents/caregivers, it is imperative that the gynecologist understands the developmental issues encountered during this phase of life. The objective of this study is to identify cited complaints of adolescent females seeking reproductive care and, thus, provide gynecologists with needed information about the medical/mental health issues that may be encountered during routine reproductive care exams. The study group was adolescent females between the ages of 12 and 20 years old. …

State Infant Mortality: An Ecologic Study To Determine Modifiable Risks And Adjusted Infant Mortality Rates., David A. Paul. Md, Amy Mackley, Rnc, Robert G. Locke, Do, John L. Stefano, Md, Charlan Kroelinger, Phd

Department of Pediatrics Faculty Papers

OBJECTIVE: To determine factors contributing to state infant mortality rates (IMR) and develop an adjusted IMR in the United States for 2001 and 2002. DESIGN/METHODS: Ecologic study of factors contributing to state IMR. State IMR for 2001 and 2002 were obtained from the United States linked death and birth certificate data from the National Center for Health Statistics. Factors investigated using multivariable linear regression included state racial demographics, ethnicity, state population, median income, education, teen birth rate, proportion of obesity, smoking during pregnancy, diabetes, hypertension, cesarean delivery, prenatal care, health insurance, self-report of mental illness, and number of in-vitro fertilization …

Trends In Mental Health Of An Adolescent Medicine Clinic Patient Population, Abdel Salous, Linah Al-Alem, Hatim A. Omar

Pediatrics Faculty Publications

The correlation between exposure to forms of violence and development of mental disorders in victims is well established. The purpose of this paper was to identify mental health problems in an adolescent medicine clinic population in Lexington, KY and to investigate potential correlation of mental disorders with psychosocial factors. Data were gathered from the charts of 169 adolescent clinic patients (age 10-22) seen in the clinic for mental health care and analyzed using Excel. Of the patient population, 68% were urban, whereas 32% were rural. In terms of gender, 40% of the patients were male and 60% were female, 80% …

Unusual Fibrosclerotic Lesion Of The Laryngotracheal Complex Presenting As Subglottic Stenosis., Douglas R. Johnston, Joseph M. Curry, Raphael Rubin, Marc R. Rosen

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

We present a case report that describes the pathology, presentation, and management complexities of an unusual, destructive fibrosclerotic lesion of the laryngotracheal complex. An otherwise healthy 21-year-old man presented with a 1-year history of progressive shortness of breath and stridor. The initial examination revealed a 3-cm, grade III subglottic stenosis. Nodular fibrosis of the strap muscles, laryngotracheal cartilages, and trachea was evident. Biopsies revealed dense peritracheal desmoplastic reaction with focal erosion of cartilage. However, features diagnostic for relapsing polychondritis, desmoid tumor, or orbital pseudotumor were absent. The disease progressed to involve severe stenosis and thickening of the trachea and main …