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Saimun Singla, Debra L Canter, Timothy J Vece, Eyal Muscal, Marietta DeGuzman
BACKGROUND: Diffuse alveolar hemorrhage (DAH) is a devastating clinical syndrome characterized by a falling hematocrit, respiratory insufficiency, and radiographic evidence of pulmonary infiltrates. Literature regarding management of DAH in childhood-onset SLE (cSLE) is limited. METHODS: We reviewed the presentation, management, and outcome of DAH in a pediatric tertiary medical center with one of the largest cSLE cohorts in North America. During a 10 year period 7 of 410 children with cSLE had DAH...
August 2016: Hospital Pediatrics
David A Cabral, Debra L Canter, Eyal Muscal, Kabita Nanda, Dawn M Wahezi, Steven J Spalding, Marinka Twilt, Susanne M Benseler, Sarah Campillo, Sirirat Charuvanij, Paul Dancey, Barbara A Eberhard, Melissa E Elder, Aimee Hersh, Gloria C Higgins, Adam M Huber, Raju Khubchandani, Susan Kim, Marisa Klein-Gitelman, Mikhail M Kostik, Erica F Lawson, Tzielan Lee, Joanna M Lubieniecka, Deborah McCurdy, Lakshmi N Moorthy, Kimberly A Morishita, Susan M Nielsen, Kathleen M O'Neil, Andreas Reiff, Goran Ristic, Angela B Robinson, Angelyne Sarmiento, Susan Shenoi, Mary B Toth, Heather A Van Mater, Linda Wagner-Weiner, Jennifer E Weiss, Andrew J White, Rae S M Yeung
OBJECTIVE: To uniquely classify children with microscopic polyangiitis (MPA), to describe their demographic characteristics, presenting clinical features, and initial treatments in comparison to patients with granulomatosis with polyangiitis (Wegener's) (GPA). METHODS: The European Medicines Agency (EMA) classification algorithm was applied by computation to categorical data from patients recruited to the ARChiVe (A Registry for Childhood Vasculitis: e-entry) cohort, with the data censored to November 2015...
October 2016: Arthritis & Rheumatology
Timothy J Vece, Levi B Watkin, Sarah Nicholas, Debra Canter, Michael C Braun, R Paul Guillerman, Karen W Eldin, Grant Bertolet, Scott McKinley, Marietta de Guzman, Lisa Forbes, Ivan Chinn, Jordan S Orange
Inherently defective immunity typically results in either ineffective host defense, immune regulation, or both. As a category of primary immunodeficiency diseases, those that impair immune regulation can lead to autoimmunity and/or autoinflammation. In this review we focus on one of the most recently discovered primary immunodeficiencies that leads to immune dysregulation: "Copa syndrome". Copa syndrome is named for the gene mutated in the disease, which encodes the alpha subunit of the coatomer complex-I that, in aggregate, is devoted to transiting molecular cargo from the Golgi complex to the endoplasmic reticulum (ER)...
May 2016: Journal of Clinical Immunology
Alvaro Orjuela, Adisak Suwanichkul, Debra Canter, Charles G Minard, Sridevi Devaraj, M John Hicks, Eyal Muscal, Scott E Wenderfer
BACKGROUND/AIMS: There is a critical need for more noninvasive biomarkers to identify nephritis in patients with systemic lupus erythematosus (SLE). Recent studies in a model mouse and an adult SLE patient cohort suggest that anti-basement membrane antibody levels correlate well with lupus activity and kidney injury. The purpose of this study was to assess the anti-basement membrane reactivity in pediatric SLE (pSLE) patients with or without nephritis. METHODS: Auto-antibodies to basement membrane antigens were assessed using an anti-matrigel ELISA...
2015: American Journal of Nephrology
Levi B Watkin, Birthe Jessen, Wojciech Wiszniewski, Timothy J Vece, Max Jan, Youbao Sha, Maike Thamsen, Regie L P Santos-Cortez, Kwanghyuk Lee, Tomasz Gambin, Lisa R Forbes, Christopher S Law, Asbjørg Stray-Pedersen, Mickie H Cheng, Emily M Mace, Mark S Anderson, Dongfang Liu, Ling Fung Tang, Sarah K Nicholas, Karen Nahmod, George Makedonas, Debra L Canter, Pui-Yan Kwok, John Hicks, Kirk D Jones, Samantha Penney, Shalini N Jhangiani, Michael D Rosenblum, Sharon D Dell, Michael R Waterfield, Feroz R Papa, Donna M Muzny, Noah Zaitlen, Suzanne M Leal, Claudia Gonzaga-Jauregui, Eric Boerwinkle, N Tony Eissa, Richard A Gibbs, James R Lupski, Jordan S Orange, Anthony K Shum
Unbiased genetic studies have uncovered surprising molecular mechanisms in human cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted sequencing in five families with an apparent mendelian syndrome of autoimmunity characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. We identified four unique deleterious variants in the COPA gene (encoding coatomer subunit α) affecting the same functional domain. Hypothesizing that mutant COPA leads to defective intracellular transport via coat protein complex I (COPI), we show that COPA variants impair binding to proteins targeted for retrograde Golgi-to-ER transport...
June 2015: Nature Genetics
Debra L Canter, Marvin D Atkins, Catherine J McNeal, Ruth L Bush
OBJECTIVES: Cardiovascular disease (CVD) is the leading cause of death in women. Aggressive management of atherosclerotic risk factors can prevent or delay the onset of CVD. Treatment of modifiable risk factors provides an important opportunity to reduce the burden of CVD in women and decrease future adverse event rates. The aims of this study were to assess current treatment of atherosclerotic risk factors in women found to be at moderate or high-risk for CVD and to examine levels of CVD knowledge and awareness among women found to be at moderate or high-risk for CVD METHODS: In a cross-sectional study, we screened ambulatory female veterans aged 40 to 85 y for the prevalence of peripheral vascular disease (PVD) and associated atherosclerotic risk factors, and administered a survey to assess the participants' knowledge and awareness of CVD, risk factors, and consequences...
December 2009: Journal of Surgical Research
Ruth L Bush, Michael A Kallen, Debra R Liles, Jeffrey T Bates, Laura A Petersen
OBJECTIVE: Peripheral vascular disease (PVD), a manifestation of systemic atherosclerosis, is an independent risk factor for cardiovascular (CV) morbidity and mortality. PVD research has traditionally focused on male patients; thus, there is a lack of current studies focusing specifically on women. In a cross-sectional study, we assessed the prevalence of PVD and associated atherosclerotic risk factors in ambulatory women veterans as well as knowledge and awareness of PVD and its consequences...
April 2008: Journal of Surgical Research
Debra R Liles, Michael A Kallen, Laura A Petersen, Ruth L Bush
Peripheral arterial disease (PAD) is a common disease entity with the potential to cause considerable impairment in the quality of life (QoL) of millions of Americans. As there is no exact cure for PAD, thus representing a chronic illness, the goal of treatment is disease management including the prevention of cardiovascular events, and improving QoL by helping people with PAD live productive and satisfying lives. Disagreement exists between patients' clinically inferred QoL status and their perceptions of QoL exist concerning PAD...
December 2006: Journal of Surgical Research
Michael L Johnson, Ruth L Bush, Tracie C Collins, Peter H Lin, Debra R Liles, William G Henderson, Shukri F Khuri, Laura A Petersen
OBJECTIVE: Large databases composed of well-designed prospectively collected cohort data provide an opportunity to examine and compare healthcare treatments in actual clinical practice settings. Because the analysis of these data often leads to a retrospective cohort design, it is essential to adequately adjust for lack of balance in patient characteristics when making treatment comparisons. We used matched propensity scoring in a cohort of patients undergoing elective aneurysm repair as an illustrative example of this important statistical method that adjusts for baseline characteristics and selection bias by matching covariables...
September 2006: American Journal of Surgery
Liz Nguyen, Debra R Liles, Peter H Lin, Ruth L Bush
Women have been shown to have a lower incidence of vascular disease when compared to men. However, the incidence of vascular disease increases as women progress through menopause and reaches an incidence similar to that of men later in life. Women with peripheral vascular disease often have a delay in diagnosis, a higher incidence of asymptomatic disease, and poorer outcome after interventions. The differences in outcome have been attributed to a number of factors such as anatomic and hormonal differences. It is thought that estrogen deficiency is at least partially responsible for the increased risk of developing vascular disease after menopause, and thus hormone replacement therapy has been considered as a method to prevent progression of vascular disease...
November 2004: Vascular and Endovascular Surgery
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