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James Marion Sims, M.D., Ll.D., Jonathan Tavares, B.S., Charles J. Yeo, Md, Pinckney J. Maxwell, Iv, Md

Department of Surgery Gibbon Society Historical Profiles

Few physicians have been as celebrated and loathed as James Marion Sims, M.D., LL.D. Dr. Sims’ modest early life and education never could have predicted that he would one day be called the ‘‘Father of American Gynecology.’’1, 2 Lauded by contemporaries and early historians as ‘‘one of the most original and gifted of American surgeons,’’ he performed the first successful operation to correct vesicovaginal fistulas (a condition that prior to 1852 was known as the ‘‘stumbling-block of gynecology’’).1 Today, the same work that earned Dr. Sims fame, fortune, and innumerable honors has been called into question, because of the unethical …

Identification Of The Functional Binding Pocket For Compounds Targeting Small-Conductance Ca²⁺-Activated Potassium Channels., Miao Zhang, John M Pascal, Marcel Schumann, Roger S Armen, Ji-Fang Zhang

Department of Molecular Physiology and Biophysics Faculty Papers

Small- and intermediate-conductance Ca(2+)-activated potassium channels, activated by Ca(2+)-bound calmodulin, have an important role in regulating membrane excitability. These channels are also linked to clinical abnormalities. A tremendous amount of effort has been devoted to developing small molecule compounds targeting these channels. However, these compounds often suffer from low potency and lack of selectivity, hindering their potential for clinical use. A key contributing factor is the lack of knowledge of the binding site(s) for these compounds. Here we demonstrate by X-ray crystallography that the binding pocket for the compounds of the 1-ethyl-2-benzimidazolinone (1-EBIO) class is located at the calmodulin-channel interface. …

Development Of Automated Image Stitching System For Radiographic Images, S. Samsudin, S. Adwan, Hamzah Arof, Norrima Mokhtar, F. Ibrahim

Research Publications (2011 to 2015)

Standard X-ray images using conventional screen-film technique have a limited field of view that is insufficient to show the full bone structure of large hands on a single frame. To produce images containing the whole hand structure, digitized images from the X-ray films can be assembled using image stitching. This paper presents a new medical image stitching method that utilizes minimum average correlation energy filters to identify and merge pairs of hand X-ray medical images. The effectiveness of the proposed method is demonstrated in the experiments involving two databases which contain a total of 40 pairs of overlapping and non-overlapping …

Contribution Of The Infection-Associated Complement Regulator-Acquiring Surface Protein 4 (Erpc) To Complement Resistance Of Borrelia Burgdorferi, Claudia Hammerschmidt, Teresia Hallström, Christine Skerka, Reinhard Wallich, Brian Stevenson, Peter F Zipfel, Peter Kraiczy

Microbiology, Immunology, and Molecular Genetics Faculty Publications

Borrelia burgdorferi evades complement-mediated killing by interacting with complement regulators through distinct complement regulator-acquiring surface proteins (CRASPs). Here, we extend our analyses to the contribution of CRASP-4 in mediating complement resistance of B. burgdorferi and its interaction with human complement regulators. CRASP-4 (also known as ErpC) was immobilized onto magnetic beads and used to capture proteins from human serum. Following Western blotting, factor H (CFH), CFH-related protein 1 (CFHR1), CFHR2, and CFHR5 were identified as ligands of CRASP-4. To analyze the impact of native CRASP-4 on mediating survival of serum-sensitive cells in human serum, a B. garinii strain was generated …

Neuroangiogenesis: A Vascular Basis For Alzheimer's Disease And Cognitive Decline During Aging, Charles T. Ambrose

Microbiology, Immunology, and Molecular Genetics Faculty Publications

Angiogenesis directs development of the brain's microcirculation during antenatal and postnatal development, but its role later in life is less well recognized. I contend that during senescence a reduced cerebral capillary density accounts in part for the vascular cognitive impairment observed in many older persons and possibly for some forms of Alzheimer's disease. I propose that neuroangiogenesis is essential throughout adult life for maintaining the microcirculation of the cerebral cortex and elsewhere in the brain and that it commonly declines with old age. To support this hypothesis I have examined the neurological literature for relevant studies on cerebral capillary density …

Tp53 Codon 72 Polymorphism Affects Accumulation Of Mtdna Damage In Human Cells, Serena Altilia, Aurelia Santoro, Davide Malagoli, Catia Lanzarini, Josué Adolfo Ballesteros Álvarez, Gianluca Galazzo, Donald Carl Porter, Paolina Crocco, Giuseppina Rose, Giuseppe Passarino, Igor Roninson, Claudio Franceschi, Stefano Salvioli

Faculty Publications

Human TP53 gene is characterised by a polymorphism at codon 72 leading to an Arginine-to-Proline (R/P) substitution. The two resulting p53 isoforms have a different subcellular localisation after stress (more nuclear or more mitochondrial for the P or R isoform, respectively). p53P72 variant is more efficient than p53R72 in inducing the expression of genes involved in nuclear DNA repair. Since p53 is involved also in mitochondrial DNA (mtDNA) maintenance, we wondered whether these p53 isoforms are associated with different accumulation of mtDNA damage. We observed that cells bearing p53R72 accumulate lower amount of mtDNA damage upon rotenone stress with respect …

Using An Established Telehealth Model To Train Urban Primary Care Providers On Hypertension Management, Christopher Masi, Tamara Hamlish, Andrew Davis, Kristine Bordenave, Stephen Brown, Brenda Perea, Glen Aduana, Marcus Wolfe, George Bakris, Daniel Johnson

Project ECHO Bibliography

The objective of this study was to determine whether a videoconference-based telehealth network can increase hypertension management knowledge and self-assessed competency among primary care providers (PCPs) working in urban Federally Qualified Health Centers (FQHCs). We created a telehealth network among 6 urban FQHCs and our institution to support a 12-session educational program designed to teach state-of-the-art hypertension management. Each 1-hour session included a brief lecture by a university-based hypertension specialist, case presentations by PCPs, and interactive discussions among the specialist and PCPs. Twelve PCPs (9 intervention and 3 controls) were surveyed at baseline and immediately following the curriculum. The mean …

Absence Of Altered Expression Of Optineurin In Primary Open Angle Glaucoma Patients., Khaled K Abu-Amero, Taif Anwar Azad, George L Spaeth, Jonathan Myers, L Jay Katz, Marlene Moster, Thomas M Bosley

Wills Eye Hospital Papers

PURPOSE: To investigate the expression level of the optineurin gene (OPTN) in the blood of primary open angle glaucoma (POAG) patients to determine if altered expression is playing a role in primary open angle glaucoma systemically.

METHODS: Patients (n=47) were eligible for inclusion if they met standard clinical criteria for POAG, including age greater than 40 years, intraocular pressure ≥21 mmHg in at least one eye before treatment, normal-appearing anterior chamber angles bilaterally on gonioscopy, and optic nerve injury characteristic of POAG. Control subjects (n=27) were recruited who were free from glaucoma by examination. DNA from patient was sequenced to …

Drug Education In Victorian Schools (Devs): The Study Protocol For A Harm Reduction Focused School Drug Education Trial, Richard Midford, Helen Cahill, David Foxcroft, Leanne Lester, Lynne Venning, Robyn Ramsden, Michelle Pose

Research outputs 2012

Background: This study seeks to extend earlier Australian school drug education research by developing and measuring the effectiveness of a comprehensive, evidence-based, harm reduction focused school drug education program for junior secondary students aged 13 to 15 years. The intervention draws on the recent literature as to the common elements in effective school curriculum. It seeks to incorporate the social influence of parents through home activities. It also emphasises the use of appropriate pedagogy in the delivery of classroom lessons. Methods/Design. A cluster randomised school drug education trial will be conducted with 1746 junior high school students in 21 Victorian …

Maternal Work Hours In Early To Middle Childhood Link To Later Adolescent Diet Quality, Jianghong Li, Therese O'Sullivan, Sarah Johnson, Fiona Stanley, Wendy H. Oddy

Research outputs 2012

Objective: Previous studies on maternal work hours and child diet quality have reported conflicting findings possibly due to differences in study design, lack of a comprehensive measure of diet quality and differing ages of the children under investigation. The present study aimed to prospectively examine the impact of parental work hours from age 1 year to age 14 years on adolescent diet quality.

Design: Multivariate linear regression models were used to examine independent associations between parents' work hours at each follow-up and across 14 years and adolescent diet quality at age 14 years. A diet quality index was based on …

A Systematic Review Of Physical Activity Interventions In Hispanic Adults, Melinda J. Ickes, Manoj Sharma

Kinesiology and Health Promotion Faculty Publications

Healthy People 2020 aims to achieve health equity, eliminate disparities, and improve the health of all groups. Regular physical activity (PA) improves overall health and fitness and has the capability to reduce risk for chronic diseases. Identifying barriers which relate to the Hispanic population is important when designing PA interventions. Therefore, the purpose was to review existing PA interventions targeting Hispanic adults published between 1988 and 2011. This paper was limited to interventions which included more than 35% Hispanic adults (n = 20). Most of the interventions were community based (n = 16), although clinical, family-based, and faith-based …

The Burden Of Breast Cancer In Italy: Mastectomies And Quadrantectomies Performed Between 2001 And 2008 Based On Nationwide Hospital Discharge Records., Prisco Piscitelli, Maddalena Barba, Massimo Crespi, Massimo Di Maio, Antonio Santoriello, Massiliamo D'Aiuto, Alfredo Fucito, Arturo Losco, Francesca Pentimalli, Pasquale Maranta, Giovanna Chitano, Alberto Argentiero, Cosimo Neglia, Alessandro Distante, Gian Luca Di Tanna, Maria Luisa Brandi, Alfredo Mazza, Ignazio R Marino, Antonio Giordano

Department of Surgery Faculty Papers

BACKGROUND: Where population coverage is limited, the exclusive use of Cancer Registries might limit ascertainment of incident cancer cases. We explored the potentials of Nationwide hospital discharge records (NHDRs) to capture incident breast cancer cases in Italy.

METHODS: We analyzed NHDRs for mastectomies and quadrantectomies performed between 2001 and 2008. The average annual percentage change (AAPC) and related 95% Confidence Interval (CI) in the actual number of mastectomies and quadrantectomies performed during the study period were computed for the full sample and for subgroups defined by age, surgical procedure, macro-area and singular Region. Re-admissions of the same patients were separately …

Src Binds Cortactin Through An Sh2 Domain Cystine-Mediated Linkage, J. V. Evans, A. G. Ammer, J. E. Jett, C. A. Bolcato, J. C. Breaux, K. H. Martin, M. V. Culp, P. M. Gannett, S. A. Weed

Faculty & Staff Scholarship

No abstract provided.

The Dermatan Sulfate Proteoglycan Decorin Modulates Α2Β1 Integrin And The Vimentin Intermediate Filament System During Collagen Synthesis., Oliver Jungmann, Katerina Nikolovska, Christian Stock, Jan-Niklas Schulz, Beate Eckes, Christoph Riethmüller, Rick T Owens, Renato V Iozzo, Daniela G Seidler

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Decorin, a small leucine-rich proteoglycan harboring a dermatan sulfate chain at its N-terminus, is involved in regulating matrix organization and cell signaling. Loss of the dermatan sulfate of decorin leads to an Ehlers-Danlos syndrome characterized by delayed wound healing. Decorin-null (Dcn(-/-)) mice display a phenotype similar to that of EDS patients. The fibrillar collagen phenotype of Dcn(-/-) mice could be rescued in vitro by decorin but not with decorin lacking the glycosaminoglycan chain. We utilized a 3D cell culture model to investigate the impact of the altered extracellular matrix on Dcn(-/-) fibroblasts. Using 2D gel electrophoresis followed by mass spectrometry, …

Epidemiology Of Contemporary Seroincident Hiv Infection In The Navy And Marine Corps, David Brett-Major, Shilpa Hakre, Neal A. Naito, Adam Armstrong, Eric A. Bower, Nelson L. Michael, Paul T. Scott

Journal Articles: Epidemiology

Human Immunodeficiency Virus (HIV) infection continues at a steady rate among U.S. Sailors and Marines. This study provides the first service-specific description of HIV infection demographics. All Sailors and Marines identified as HIV infected between January 2005 and August 2010 were included. The project compared personnel and epidemiologic data, and tested reposed sera in the Department of Defense Serum Repository. This group comprised 410 Sailors and 86 Marines, predominantly men. HIV infected Marines were more likely to be foreign born than their Navy counterparts, 42% versus 10%, p < 0.001. Approximately half of the patients had deployed including to the wars in Iraq or Afghanistan. Nearly half of each group was infected by the age of 25. Similar to the U.S. epidemic, Black race was over-represented. Unlike national rates, Hispanic Sailors and Marines were not over-represented. Demographics were distinct for those of specific occupational specialties. Certain ship classes carried lower incidences. Clustering of HIV infection risk occurred around deployment. The Navy and Marine Corps have different patterns of HIV infection, which may merit distinct approaches to prevention. The Navy may have unique targets for prevention efforts to include pipeline training and first assignment as well as particular occupational environments.

Differential Expression Of Metabolic Genes In Tumor And Stromal Components Of Primary And Metastatic Loci In Pancreatic Adenocarcinoma., Nina V. Chaika, Fang Yu, Vinee Purohit, Kamiya Mehla, Audrey J. Lazenby, Dominick J. Dimaio, Judy M. Anderson, Jen Jen Yeh, Keith R. Johnson, Michael A. Hollingsworth, Pankaj K. Singh

Journal Articles: Eppley Institute

BACKGROUND: Pancreatic cancer is the fourth leading cause of cancer related deaths in the United States with a five-year survival rate of 6%. It is characterized by extremely aggressive tumor growth rate and high incidence of metastasis. One of the most common and profound biochemical phenotypes of animal and human cancer cells is their ability to metabolize glucose at high rates, even under aerobic conditions. However, the contribution of metabolic interrelationships between tumor cells and cells of the surrounding microenvironment to the progression of cancer is not well understood. We evaluated differential expression of metabolic genes and, hence, metabolic pathways …

Associations Of Cardiorespiratory Fitness And Fatness With Metabolic Syndrome In Rural Women With Prehypertension., Patricia A. Hageman, Carol H. Pullen, Melody A. Hertzog, Linda S. Boeckner, Susan Noble Walker

Journal Articles: Physical Therapy

BACKGROUND: This study investigated the associations of fitness and fatness with metabolic syndrome in rural women, part of a recognized US health disparities group.

METHODS: Fitness, percentage body fat, BMI, and metabolic syndrome criteria were assessed at baseline in 289 rural women with prehypertension, ages 40-69, enrolled in a healthy eating and activity community-based clinical trial for reducing blood pressure.

RESULTS: Ninety (31%) women had metabolic syndrome, of which 70% were obese by BMI (≥30 kg/m²), 100% by percentage body fat (≥30%), and 100% by revised BMI standards (≥25 kg/m²) cited in current literature. Hierarchical logistic regression models, adjusted for …

Medical Education On The Brink: 62 Years Of Front-Line Observations And Opinions, Herbert L Fred

The Texas Heart Institute Journal

No abstract provided.

After Avandia: The Use Of Antidiabetic Drugs In Patients With Heart Failure, Khaled I Khalaf, Heinrich Taegtmeyer

The Texas Heart Institute Journal

Managing diabetes mellitus is an ongoing concern, especially in the presence of heart failure. Recent reports have drawn attention to adverse cardiovascular events associated with the use of thiazolidinediones, including rosiglitazone (Avandia). In 2011, the U.S. Food and Drug Administration implemented a stringent “restricted access program” for the prescription of Avandia. Other studies, which have revealed increased mortality rates in association with tight glycemic control, raise serious concerns about managing diabetes in heart-failure patients.

Herein, we provide a perspective on the management of noninsulin-dependent diabetes in patients with heart failure. We point out that thiazolidinediones exert their major effects through …

Control Of Interneuron Dendritic Growth Through Nrg1/Erbb4-Mediated Kalirin-7 Disinhibition., M. E. Cahill, K. A. Jones, I. Rafalovich, Z. Xie, C. S. Barros, U. Müller, P. Penzes

Peninsula Medical School

Neuregulin 1 (NRG1) is a secreted trophic factor that activates the postsynaptic erbB4 receptor tyrosine kinase. Both NRG1 and erbB4 have been repeatedly associated with schizophrenia, but their downstream targets are not well characterized. ErbB4 is highly abundant in interneurons, and NRG1-mediated erbB4 activation has been shown to modulate interneuron function, but the role for NRG1-erbB4 signaling in regulating interneuron dendritic growth is not well understood. Here we show that NRG1/erbB4 promote the growth of dendrites in mature interneurons through kalirin, a major dendritic Rac1-GEF. Recent studies have shown associations of the KALRN gene with schizophrenia. Our data point to …

Use Of A Clay Modeling Task To Reduce Chocolate Craving., Jackie Andrade, Sally Pears, Jon May, David J. Kavanagh

School of Psychology

Elaborated Intrusion theory (EI theory; Kavanagh, Andrade, & May, 2005) posits two main cognitive components in craving: associative processes that lead to intrusive thoughts about the craved substance or activity, and elaborative processes supporting mental imagery of the substance or activity. We used a novel visuospatial task to test the hypothesis that visual imagery plays a key role in craving. Experiment 1 showed that spending 10 min constructing shapes from modeling clay (plasticine) reduced participants' craving for chocolate compared with spending 10 min 'letting your mind wander'. Increasing the load on verbal working memory using a mental arithmetic task (counting …

Rituximab Therapy In Pulmonary Alveolar Proteinosis Improves Alveolar Macrophage Lipid Homeostasis., Anagha Malur, Mani Kavuru, Irene Marshall, Barbara P Barna, Isham Huizar, Reema Karnekar, Mary Jane Thomassen

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

RATIONALE: Pulmonary Alveolar Proteinosis (PAP) patients exhibit an acquired deficiency of biologically active granulocyte-macrophage colony stimulating factor (GM-CSF) attributable to GM-CSF specific autoantibodies. PAP alveolar macrophages are foamy, lipid-filled cells with impaired surfactant clearance and markedly reduced expression of the transcription factor peroxisome proliferator-activated receptor gamma (PPARγ) and the PPARγ-regulated ATP binding cassette (ABC) lipid transporter, ABCG1. An open label proof of concept Phase II clinical trial was conducted in PAP patients using rituximab, a chimeric murine-human monoclonal antibody directed against B lymphocyte specific antigen CD20. Rituximab treatment decreased anti-GM-CSF antibody levels in bronchoalveolar lavage (BAL) fluid, and 7/9 patients …

Giant Fornix Syndrome: A Case Series., Kiran Turaka, Robert B Penne, Christopher J. Rapuano, Azin Abazari, Ralph C Eagle, Kristin M. Hammersmith, Brandon Ayres

Wills Eye Hospital Papers

PURPOSE: To describe the demographics, characteristics, and treatment of giant fornix syndrome, a rare cause of chronic purulent conjunctivitis in the elderly.

METHODS: Retrospective chart review of five patients with giant fornix syndrome evaluated by the Cornea Service, Oculoplastics and Orbital Surgery Service and the Department of Pathology at the Wills Eye Institute.

RESULTS: The median age of the 5 female patients was 75 years (mean 80, range 70-95). The median duration of eye symptoms before presentation was 2 years (mean 2.4, range 1-4). Before referral, the chronic conjunctivitis was treated with topical antibiotics in all 5 cases and with …

Unaltered Myocilin Expression In The Blood Of Primary Open Angle Glaucoma Patients., Khaled K Abu-Amero, Taif Anwar Azad, George L Spaeth, Jonathan Myers, L Jay Katz, Marlene Moster, Thomas M Bosley

Wills Eye Hospital Papers

PURPOSE: To investigate the expression of the myocilin gene (MYOC) in the blood of primary open angle glaucoma (POAG) patients to determine if altered systemic expression is playing a role.

METHODS: Patients (n=47) were eligible for inclusion if they met standard clinical criteria for POAG. Control subjects (n=27) were recruited who were free from glaucoma by examination. RNA was extracted from leukocytes of patients and controls and converted to cDNA by reverse transcriptase enzyme, and quantitative PCR was used to assess expression levels of MYOC and the house keeping gene β-globulin (HBB). The ratio of MYOC expression to HBB expression …

Gene Expression Signatures Modulated By Epidermal Growth Factor Receptor Activation And Their Relationship To Cetuximab Resistance In Head And Neck Squamous Cell Carcinoma., Elana J Fertig, Qing Ren, Haixia Cheng, Hiromitsu Hatakeyama, Adam Dicker Md, Phd, Ulrich Rodeck, Michael Considine, Michael F Ochs, Christine H Chung

Department of Radiation Oncology Faculty Papers

BACKGROUND: Aberrant activation of signaling pathways downstream of epidermal growth factor receptor (EGFR) has been hypothesized to be one of the mechanisms of cetuximab (a monoclonal antibody against EGFR) resistance in head and neck squamous cell carcinoma (HNSCC). To infer relevant and specific pathway activation downstream of EGFR from gene expression in HNSCC, we generated gene expression signatures using immortalized keratinocytes (HaCaT) subjected to ligand stimulation and transfected with EGFR, RELA/p65, or HRASVal12D.

RESULTS: The gene expression patterns that distinguished the HaCaT variants and conditions were inferred using the Markov chain Monte Carlo (MCMC) matrix factorization algorithm Coordinated Gene Activity …

Age And Premorbid Intelligence Suppress Complaint-Performance Congruency In Raw Score Measures Of Memory, Matthew Merema, Craig Speelman, Elizabeth Kaczmarek, Jonathan Foster

Research outputs 2012

Background: We aimed to examine the role of age and premorbid intelligence (IQ) in suppressing the relationship between subjective memory complaints (SMCs) and raw score memory performance. Methods: We used a community sample of older adults aged 66"90 years (N = 121) to test whether the inclusion of age and a premorbid IQ measure in multiple regression analyses increased semipartial correlations of raw score memory performance in predicting SMCs. Rank contrast correlations were also carried out to observe how age and premorbid IQ are related to complaint"performance congruency. Measures utilized in the study included the Memory Functioning Questionnaire (for SMCs), …

Comparative Genomics Of Brachyspira Pilosicoli Strains: Genome Rearrangements, Reductions And Correlation Of Genetic Compliment With Phenotypic Diversity, Luke Mappley, Michael Black, Manal Abuoun, Alistair C. Darby, Martin J. Woodward, Julian Parkhill, A. Keith Turner, Matthew I. Bellgard, Tom La, Nyree D. Phillips, Roberto M. La Ragione, David J. Hampson

Research outputs 2012

Background: The anaerobic spirochaete Brachyspira pilosicoli causes enteric disease in avian, porcine and human hosts, amongst others. To date, the only available genome sequence of B. pilosicoli is that of strain 95/1000, a porcine isolate. In the first intra-species genome comparison within the Brachyspira genus, we report the whole genome sequence of B. pilosicoli B2904, an avian isolate, the incomplete genome sequence of B. pilosicoli WesB, a human isolate, and the comparisons with B. pilosicoli 95/1000. We also draw on incomplete genome sequences from three other Brachyspira species. Finally we report the first application of the high-throughput Biolog phenotype screening …

Can Exercise Ameliorate Treatment Toxicity During The Initial Phase Of Testosterone Deprivation In Prostate Cancer Patients? Is This More Effective Than Delayed Rehabilitation?, Robert Newton, Dennis Taaffe, Nigel Spry, Prue Cormie, Suzanne Chambers, Robert Gardiner, David Shum, David Joseph, Daniel Galvao

Research outputs 2012

Background: There has been substantial increase in use of androgen deprivation therapy as adjuvant management of prostate cancer. However, this leads to a range of musculoskeletal toxicities including reduced bone mass and increased skeletal fractures compounded with rapid metabolic alterations, including increased body fat, reduced lean mass, insulin resistance and negative lipoprotein profile, increased incidence of cardiovascular and metabolic morbidity, greater distress and reduced quality of life. Numerous research studies have demonstrated certain exercise prescriptions to be effective at preventing or even reversing these treatment toxicities. However, all interventions to date have been of rehabilitative intent being implemented after a …

Oral Health And Pathology: A Macrophage Account., Rebecca Merry, Louise Belfield, Paul Mcardle, Andrew Mclennan, Stjohn Crean, Andrew Foey

School of Biomedical Sciences

Macrophages are present in healthy oral mucosa and their numbers increase dramatically during disease. They can exhibit a diverse range of phenotypes characterised as a functional spectrum from pro-inflammatory to anti-inflammatory (regulatory) subsets. This review illustrates the role of these subsets in the oral inflammatory disease lichen planus, and the immunosuppressive disease oral squamous cell carcinoma (SCC). We conclude that the role of macrophages in driving progression in oral disease identifies them as potential therapeutic targets for a range of oral pathologies.

Genome-Wide Expression Analysis In Down Syndrome: Insight Into Immunodeficiency, Chong Li, Lei Jin, Yun Bai, Qimin Chen, Lijun Fu, Minjun Yang, Huasheng Xiao, Guoping Zhao, Shengyue Wang

PCOM Scholarly Works

Down syndrome (DS) is caused by triplication of Human chromosome 21 (Hsa21) and associated with an array of deleterious phenotypes, including mental retardation, heart defects and immunodeficiency. Genome-wide expression patterns of uncultured peripheral blood cells are useful to understanding of DS-associated immune dysfunction. We used a Human Exon microarray to characterize gene expression in uncultured peripheral blood cells derived from DS individuals and age-matched controls from two age groups: neonate (N) and child (C). A total of 174 transcript clusters (gene-level) with eight located on Hsa21 in N group and 383 transcript clusters including 56 on Hsa21 in C group …