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Articles 1 - 30 of 299
Full-Text Articles in Diseases
High Fat Diet Enhances Cardiac Abnormalities In Shr Rats: Protective Role Of Heme Oxygenaseadiponectin Axis, Jian Cao, Komal Sodhi, Nitin Puri, Sumit R. Monu, Rita Rezzani, Nader G. Abraham
High Fat Diet Enhances Cardiac Abnormalities In Shr Rats: Protective Role Of Heme Oxygenaseadiponectin Axis, Jian Cao, Komal Sodhi, Nitin Puri, Sumit R. Monu, Rita Rezzani, Nader G. Abraham
Pharmaceutical Science and Research
Background
High dietary fat intake is a major risk factor for development of cardiovascular and metabolic dysfunction including obesity, cardiomyopathy and hypertension.
Methods
The present study was designed to examine effect of high fat (HF) diet on cardio-vascular structure and function in spontaneously hypertensive rats (SHR), fed HF diet for 15 weeks, a phenotype designed to mimic metabolic syndrome.
Results
Development of metabolic syndrome like phenotype was confirmed using parameters, including body weight, total cholesterol and blood pressure levels. High fat diet impaired vascular relaxation by acetylcholine and exacerbated cardiac dysfunction in SHRs as evidenced by lower left ventricular function, …
Triterpenoid Modulation Of Il-17 And Nrf-2 Expression Ameliorates Neuroinflammation And Promotes Remyelination In Autoimmune Encephalomyelitis, Tej K. Pareek, Abdelmadjid Belkadi, Sashi Kesavapany, Anita Zaremba, Sook L. Loh, Lianhua Bai, Mark L. Cohen, Colin Meyer, Karen T. Liby, Robert H. Miller, Michael B. Sporn, John J. Letterio
Triterpenoid Modulation Of Il-17 And Nrf-2 Expression Ameliorates Neuroinflammation And Promotes Remyelination In Autoimmune Encephalomyelitis, Tej K. Pareek, Abdelmadjid Belkadi, Sashi Kesavapany, Anita Zaremba, Sook L. Loh, Lianhua Bai, Mark L. Cohen, Colin Meyer, Karen T. Liby, Robert H. Miller, Michael B. Sporn, John J. Letterio
Dartmouth Scholarship
Inflammatory cytokines and endogenous anti-oxidants are variables affecting disease progression in multiple sclerosis (MS). Here we demonstrate the dual capacity of triterpenoids to simultaneously repress production of IL-17 and other pro-inflammatory mediators while exerting neuroprotective effects directly through Nrf2-dependent induction of anti-oxidant genes. Derivatives of the natural triterpene oleanolic acid, namely CDDO-trifluoroethyl-amide (CDDO-TFEA), completely suppressed disease in a murine model of MS, experimental autoimmune encephalomyelitis (EAE), by inhibiting Th1 and Th17 mRNA and cytokine production. Encephalitogenic T cells recovered from treated mice were hypo-responsive to myelin antigen and failed to adoptively transfer the disease. Microarray analyses showed significant suppression of …
Kate's Untested Baby (Huntington’S Disease And Abortion - Part Ii), Kenneth P. Serbin
Kate's Untested Baby (Huntington’S Disease And Abortion - Part Ii), Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
An Angel Fighting For The Cure (Huntington’S Disease And Abortion - Part I), Kenneth P. Serbin
An Angel Fighting For The Cure (Huntington’S Disease And Abortion - Part I), Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
Interferon Alpha For Chronic Hepatitis D, Zaigham Abbas, Muhammad Arsalan Khan, Mohammad Salih, Wasim Jafri
Interferon Alpha For Chronic Hepatitis D, Zaigham Abbas, Muhammad Arsalan Khan, Mohammad Salih, Wasim Jafri
Department of Medicine
Background:
Hepatitis D virus is a small defective RNA virus that requires the presence of hepatitis B virus infection to infect a person. Hepatitis D is a difficult-to-treat infection. Several clinical trials have been published on the efficacy of interferon alpha for hepatitis D virus (HDV) infection. However, there are few randomised trials evaluating the effects of interferon alpha, and it is difficult to judge any benefit of this intervention from the individual trials.
Objectives:
To evaluate the beneficial and harmful effects of interferon alpha for Patients with chronic hepatitis D.
Search methods:
We identified relevant for the review randomised …
Assessing Two Spirometric Criteria Of Pre-Bronchodilator And Post-Bronchodilator Fev1/Fvc Ratio In Detecting Air Flow Obstruction, Zeeshan Waheed, Muhammad Irfan, Ahmed Suleman Haque, Najmul Hasan Siddiqui, Safia Awan, Beenish Syed, Javaid Khan
Assessing Two Spirometric Criteria Of Pre-Bronchodilator And Post-Bronchodilator Fev1/Fvc Ratio In Detecting Air Flow Obstruction, Zeeshan Waheed, Muhammad Irfan, Ahmed Suleman Haque, Najmul Hasan Siddiqui, Safia Awan, Beenish Syed, Javaid Khan
Section of Pulmonary & Critical Care
OBJECTIVES: To assess the Pre-bronchodilator criteria and the Post-bronchodilator criteria of FEV1/FVC ratio in diagnosing Airflow obstruction.
METHODS: An observational study was conducted from 1988 to 2006 at the Aga Khan University Hospital Patients referred to the pulmonary function test laboratory for spirometry with bronchodilator reversibility at the hospital during the above said period were enrolled. Forced spirometry was performed according to ATS guidelines. All patients who had pre-bronchodilator criteria of airflow obstruction were analyzed and compared with the post bronchodilator criteria.
RESULTS: A total of 4222 individuals underwent spirometry out of which 4072 individuals were studied. Using the pre …
Multiple Sclerosis Is Not A Disease Of The Immune System, Angelique Corthals
Multiple Sclerosis Is Not A Disease Of The Immune System, Angelique Corthals
Publications and Research
Multiple sclerosis is a complex neurodegenerative disease, thought to arise through autoimmunity against antigens of the central nervous system. The autoimmunity hypothesis fails to explain why genetic and environmental risk factors linked to the disease in one population tend to be unimportant in other populations. Despite great advances in documenting the cell and molecular mechanisms underlying MS pathophysiology, the autoimmunity framework has also been unable to develop a comprehensive explanation of the etiology of the disease. I propose a new framework for understanding MS as a dysfunction of the metabolism of lipids. Specifically, the homeostasis of lipid metabolism collapses during …
The Incidence Of Plexiform Lesion Formation In Lines Divergently Selected For Ascites, James Grant Mason
The Incidence Of Plexiform Lesion Formation In Lines Divergently Selected For Ascites, James Grant Mason
Graduate Theses and Dissertations
Complex Vascular Lesions, (CVL) are a common vascular change associated with idiopathicpulmonary arterial hypertension (IPAH). CVL have been characterized in studies using animal models involving, but not limited to, Sprague-Dawley rats and poultry (Abe et al., 2010; Wideman et al., 2011).IPAH has been documented in poultry although no connection has been made with CVLs. The current study characterizes CVL in the lungs from broilers derived from lines divergently selected for 15 generations for ascites susceptibility under conditions of simulated high altitude. The ascites RES and SUS lines were sampled for CVL incidence over time. Both lines were reared in a …
Can Antioxidant-Rich Berries Improve Risk Factors Associated With Cardiovascular Disease In Postmenopausal Smokers?, Jordan Alaine Teeple
Can Antioxidant-Rich Berries Improve Risk Factors Associated With Cardiovascular Disease In Postmenopausal Smokers?, Jordan Alaine Teeple
Graduate Theses and Dissertations
The purpose of this study was to examine the effects of smoking on risk factors associated with cardiovascular disease (CVD) and determine the efficacy of antioxidant-rich berries in ameliorating these risk factors in postmenopausal smokers. Menopause and cigarette smoking have been identified as major risk factors for CVD due to a decrease in antioxidant protection, increase in inflammation and oxidative stress, and adverse changes in serum lipids. Antioxidants, specifically flavonoid compounds found in blackberries and blueberries, have been shown to prevent low-density lipoprotein cholesterol oxidation and thus prevent downstream inflammation and oxidative stress. Healthy, postmenopausal nonsmokers (n=14) and smokers (n=31) …
Autoimmune Consequences Of Histone Deimination During Neutrophil Activation, Nishant Dwivedi
Autoimmune Consequences Of Histone Deimination During Neutrophil Activation, Nishant Dwivedi
Theses and Dissertations (ETD)
Tolerance blocks the expression of autoantibodies, whereas autoimmunity promotes it. How tolerance breaks and autoantibody production begins, thus, are crucial questions for the understanding and treatment of autoimmune diseases. Evidence implicates cell death and autoantigen modifications in the initiation of autoimmune reactions. One form of neutrophil cell death deserves attention because it occurs as a consequence of neutrophil activation, requires the post-translational modification of histones and results in the extracellular release of chromatin. The extracellular chromatin incorporates histones in which arginines have been converted to citrullines by peptidylarginine deiminase IV (PAD4) creating structures that capture or "trap" bacterial pathogens. Neutrophil …
Spatial Distribution Of Obesity Among West Virginia 5th Grade Children: Analysis Of The Socioeconomic, Physical, And Personal Environment, Sherry Roper
Theses and Dissertations (ETD)
Childhood obesity defined as a body mass index (BMI) at or above the 95th percentile for children of the same age and sex, is considered an epidemic in the United States. Biology and lifestyle behaviors have been identified as important factors in the development of childhood obesity; however, researchers are beginning to place more emphasis upon the impact that continual environmental exposures have upon obesity development. Environmental risk factors associated with obesity are distributed continuously over space, yet evidence suggests that burden of risk may not be evenly dispersed across a community. West Virginia (WV), a rural Appalachian community has …
Characterization Of The Mechanism Of Pparγ-Mediated Neointima Formation In Rodents, Ryoko Tsukahara
Characterization Of The Mechanism Of Pparγ-Mediated Neointima Formation In Rodents, Ryoko Tsukahara
Theses and Dissertations (ETD)
Lysophosphatidic acid (LPA) and its ether analog alkyl glycerophosphate (AGP) elicit arterial wall remodeling when applied intralumenally into the uninjured carotid artery. LPA is the ligand of eight GPCRs and the peroxisome proliferator-activated receptor γ (PPARγ). We pursued a gene knockout strategy to identify the LPA receptor subtypes necessary for the neointimal response in a non-injury model of carotid remodeling and also compared the effects of AGP and the PPARγ agonist rosiglitazone (ROSI) on balloon injury-elicited neointima development. In the balloon injury model AGP significantly increased neointima; however, rosiglitazone application attenuated it. AGP and ROSI were also applied intralumenally for …
Compound 49b: A Novel Beta-Adrenergic Receptor Agonist In The Treatment Of Diabetic Retinopathy, Kimberly Williams-Guy
Compound 49b: A Novel Beta-Adrenergic Receptor Agonist In The Treatment Of Diabetic Retinopathy, Kimberly Williams-Guy
Theses and Dissertations (ETD)
Diabetic retinopathy is the leading cause of blindness in working Americans. While there are therapeutic regimens for the disease, more effective methods are needed. We have previously shown that a non-specific beta-adrenergic receptor agonist, isoproterenol, was effective in preventing functional and morphological changes associated with diabetic retinopathy in the rat. Isoproterenol also produced left ventricle remodeling suggesting it entered the systemic circulation. We therefore synthesized various novel beta-adrenergic receptor compounds and screened these compounds in vitro for their ability to reduce markers of inflammation and apoptosis. Of the various compounds tested, Compound 49b was able to reduce both inflammation and …
A Brief Content Analysis Of Attachment And Sexual Relationships In Sex Therapy And Research Journals, Kathryn Zambrano Devis
A Brief Content Analysis Of Attachment And Sexual Relationships In Sex Therapy And Research Journals, Kathryn Zambrano Devis
UNLV Theses, Dissertations, Professional Papers, and Capstones
A surge of scholarly publications on attachment within couple relationships prompted this content analysis of attachment articles published in six sex therapy and sex research journals. This study investigates the extent to which these journals attend to attachment in the context of adult sexual relationships. The researcher found 2257 articles published within these journals; 64 of which attend to attachment and 9 of which attend to attachment and sex. Implications for couples therapy in the field of sex therapy and future directions are discussed.
Role Of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 And In Immature Neurons, Yi Chun Chen
Role Of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 And In Immature Neurons, Yi Chun Chen
Dissertations and Theses (Open Access)
Spinocerebellar Ataxia type 7 (SCA7) is a neurodegenerative disease caused by expansion of a CAG repeat encoding a polyglutamine tract in ATXN7, a component of the SAGA histone acetyltransferase (HAT) complex. Previous studies provided conflicting evidence regarding the effects of polyQ-ATXN7 on the activity of Gcn5, the HAT catalytic subunit of SAGA. Here I showed that reducing Gcn5 expression accelerates both cerebellar and retinal degeneration in a mouse model of SCA7. Deletion of Gcn5 in Purkinje cells in mice expressing wild type Atxn7, however, causes only mild ataxia and does not lead to the early lethality observed in SCA7 mice. …
The Role Of Cell Sterilization In Population Based Studies Of Radiogenic Second Cancers Following Radiation Therapy, Annelise Giebeler
The Role Of Cell Sterilization In Population Based Studies Of Radiogenic Second Cancers Following Radiation Therapy, Annelise Giebeler
Dissertations and Theses (Open Access)
Advances in radiotherapy have generated increased interest in comparative studies of treatment techniques and their effectiveness. In this respect, pediatric patients are of specific interest because of their sensitivity to radiation induced second cancers. However, due to the rarity of childhood cancers and the long latency of second cancers, large sample sizes are unavailable for the epidemiological study of contemporary radiotherapy treatments. Additionally, when specific treatments are considered, such as proton therapy, sample sizes are further reduced due to the rareness of such treatments. We propose a method to improve statistical power in micro clinical trials. Specifically, we use a …
Detection Of Two Pathogens Of High Importance To The National Poultry Improvement Plan: Salmonella Spp. And Mycoplasma Spp., Robin Levi Jarquin
Detection Of Two Pathogens Of High Importance To The National Poultry Improvement Plan: Salmonella Spp. And Mycoplasma Spp., Robin Levi Jarquin
Graduate Theses and Dissertations
In 1935, the National Poultry Improvement Plan (NPIP) was created to control Salmonella gallinarum and Salmonella pullorum . These two pathogens were devastating economically for poultry producers. Through cooperative efforts using vaccination and strict biosecurity, these two pathogens were eradicated from the United States. Currently, the NPIP program is targeting two other poultry pathogens, Salmonella enterica serovar Enteritidis and Mycoplasma . In the broiler industry it targets 2 specific Mycoplasma species (synoviae, gallisepticum). Vaccinations for these bacteria are available, but are not fully effective at controlling all strains and serovars. Thus, constant monitoring systems and strict biosecurity measures are necessary …
Evaluation Of The Pilot Program, Pediatric Early Warning Sentinel Surveillance Program (Pewss), And Its Efficacy In Monitoring Pediatric Illness In Clark County, Nevada, Michelle Lee Lutman
Evaluation Of The Pilot Program, Pediatric Early Warning Sentinel Surveillance Program (Pewss), And Its Efficacy In Monitoring Pediatric Illness In Clark County, Nevada, Michelle Lee Lutman
UNLV Theses, Dissertations, Professional Papers, and Capstones
The influenza outbreak that occurred during 2009 stimulated the formation of several surveillance programs throughout the country. The majority monitor only influenza; however, there are several other circulating respiratory pathogens, especially within the pediatric community. These other respiratory pathogens cause a variety of illnesses, such as bronchitis, pneumonia, croup, etc. Prior research has provided the medical community with valuable information about respiratory illnesses, especially those which afflict pediatric patients. Areas of knowledge including seasonality, demographics, signs and symptoms, prevention measures, and pathogenicity, have been greatly expanded over the years. This information has been of tremendous help to the medical community …
Methodological Quality Of Quantitative Nursing Lesbian, Gay, Bisexual, And Transgender Research From 2000 To 2010, Michael Johnson
Methodological Quality Of Quantitative Nursing Lesbian, Gay, Bisexual, And Transgender Research From 2000 To 2010, Michael Johnson
UNLV Theses, Dissertations, Professional Papers, and Capstones
Lesbian, gay, bisexual, and transgender (LGBT) people constitute one of the largest underserved populations in any nursing setting. Despite the large LGBT populations, very little nursing research has been conducted on these populations. Nurse researchers have recommended that nursing researchers end the silence on LGBT research. To accomplish this, the methodological rigor of LGBT nursing research must be evaluated and improved upon. Currently, no literature examines the methodological quality of quantitative nursing LGBT research. Using a cross-sectional design, it was the purpose of this study to evaluate the methodological quality of quantitative nursing LGBT research from 2000 to 2010 using …
Factors Affecting Growth In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Richard V. Williams, Victor Zak, Chitra Ravishankar, Karen Altmann, Jeffrey Anderson, Andrew M. Atz, Carolyn Dunbar-Masterson, Nancy Ghanayem, Linda Lambert, Karen Lurito, Barbara Medoff-Cooper, Renee Margossian, Victoria L. Pemberton, Jennifer Russell, Mario Stylianou, Daphne Hsu, Pediatric Heart Network Investigators, Girish S. Shirali
Factors Affecting Growth In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Richard V. Williams, Victor Zak, Chitra Ravishankar, Karen Altmann, Jeffrey Anderson, Andrew M. Atz, Carolyn Dunbar-Masterson, Nancy Ghanayem, Linda Lambert, Karen Lurito, Barbara Medoff-Cooper, Renee Margossian, Victoria L. Pemberton, Jennifer Russell, Mario Stylianou, Daphne Hsu, Pediatric Heart Network Investigators, Girish S. Shirali
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVES: To describe growth patterns in infants with single ventricle physiology and determine factors influencing growth.
STUDY DESIGN: Data from 230 subjects enrolled in the Pediatric Heart Network Infant Single Ventricle Enalapril Trial were used to assess factors influencing change in weight-for-age z-score (z) from study enrollment (0.7 ± 0.4 months) to pre-superior cavopulmonary connection (SCPC; 5.1 ± 1.8 months, period 1) and pre-SCPC to final study visit (14.1 ± 0.9 months, period 2). Predictor variables included patient characteristics, feeding regimen, clinical center, and medical factors during neonatal (period 1) and SCPC hospitalizations (period 2). Univariate regression analysis was performed, …
The Holy Grail Of Huntington's Disease Research: The Gene-Positive, Drug Trials, And Treatments, Kenneth P. Serbin
The Holy Grail Of Huntington's Disease Research: The Gene-Positive, Drug Trials, And Treatments, Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
An Hd Thanksgiving Toast, Kenneth P. Serbin
An Hd Thanksgiving Toast, Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
Adherence To The European Society Of Cardiology (Esc) Guidelines For Chronic Heart Failure - A National Survey Of The Cardiologists In Pakistan, Sana Shoukat, Saqib A. Gowani, Ather M. Taqui, Rameez Ul Hassan, Zain A. Bhutta, Anum I. Malik, Sajjad A. Sherjeel, Quratulanne Sheheryar, Sajid H. Dhakam
Adherence To The European Society Of Cardiology (Esc) Guidelines For Chronic Heart Failure - A National Survey Of The Cardiologists In Pakistan, Sana Shoukat, Saqib A. Gowani, Ather M. Taqui, Rameez Ul Hassan, Zain A. Bhutta, Anum I. Malik, Sajjad A. Sherjeel, Quratulanne Sheheryar, Sajid H. Dhakam
Section of Neurosurgery
Background:The aims of this study were to evaluate the awareness of and attitudes towards the 2005 European Society of Cardiology (ESC) guidelines for Heart Failure (HF) of the cardiologists in Pakistan and assess barriers to adherence to guidelines.
Methods: A cross-sectional survey was conducted in person from March to July 2009 to all cardiologists practicing in 4 major cities in Pakistan (Karachi, Lahore, Quetta and Peshawar). A validated, semi-structured questionnaire assessing ESC 2005 Guidelines for HF was used to obtain information from cardiologists. It included questions about awareness and relevance of HF guidelines (See Additional File 1). Respondents' management …
Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve For Conduit Failure In The Pulmonary Position: Early Phase 1 Results From An International Multicenter Clinical Trial., Damien Kenny, Ziyad M. Hijazi, Saibal Kar, John Rhodes, Michael Mullen, Raj Makkar, Girish S. Shirali, Mark Fogel, John Fahey, Mary G. Heitschmidt, Christopher Cain
Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve For Conduit Failure In The Pulmonary Position: Early Phase 1 Results From An International Multicenter Clinical Trial., Damien Kenny, Ziyad M. Hijazi, Saibal Kar, John Rhodes, Michael Mullen, Raj Makkar, Girish S. Shirali, Mark Fogel, John Fahey, Mary G. Heitschmidt, Christopher Cain
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVES: The purpose of this study was to evaluate the safety and effectiveness of the Edwards SAPIEN transcatheter heart valve (Edwards Lifesciences LLC, Irvine, California) in the pulmonary position in patients with moderate to severe pulmonary regurgitation with or without stenosis.
BACKGROUND: Transcatheter pulmonary valve replacement is evolving, but to date, experience has been limited to the Melody valve (Medtronic Inc., Minneapolis, Minnesota).
METHODS: Eligible patients with dysfunctional right ventricle-to-pulmonary artery conduits were screened if body weight was ≥35 kg and the in situ conduit diameter was ≥16 mm and ≤24 mm. Standardized implantation and follow-up protocols were used.
RESULTS: …
Finding America’S Passion: The Nfl And Huntington’S Disease, Kenneth P. Serbin
Finding America’S Passion: The Nfl And Huntington’S Disease, Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
Huntington’S Disease In The News And Entertainment Media - Part Ii: A Suicide On Tv, Kenneth P. Serbin
Huntington’S Disease In The News And Entertainment Media - Part Ii: A Suicide On Tv, Kenneth P. Serbin
At Risk for Huntington's Disease
No abstract provided.
Behavioral Health Change In Appalachian Women With High Cardiovascular Disease Risk Report, Sarah Cole
Behavioral Health Change In Appalachian Women With High Cardiovascular Disease Risk Report, Sarah Cole
Kaleidoscope
No abstract provided.
Small Intestinal Bacterial Overgrowth And Lactose Intolerance Contribute To Irritable Bowel Syndrome Symptomatology In Pakistan, Javed Yakoob, Zaigham Abbas, Rustam Khan, Saeed Hamid, Safia Awan, Wasim Jafri
Small Intestinal Bacterial Overgrowth And Lactose Intolerance Contribute To Irritable Bowel Syndrome Symptomatology In Pakistan, Javed Yakoob, Zaigham Abbas, Rustam Khan, Saeed Hamid, Safia Awan, Wasim Jafri
Department of Medicine
Background /Aim: The symptoms of irritable bowel syndrome resemble those of small intestinal bacterial overgrowth (SIBO). The aim of this study was to determine the frequency of SIBO and lactose intolerance (LI) occurrence in Patients with diarrhea-predominant irritable bowel syndrome (IBS-D) according to Rome III criteria.
PatientS and Methods: In this retrospective case-control study, Patients over 18 years of age with altered bowel habit, bloating, and Patients who had lactose Hydrogen breath test (H 2 BT) done were included. The "cases" were defined as Patients who fulfill Rome III criteria for IBS-D, while "controls" were those having chronic nonspecific diarrhea …
Genotype And Cardiovascular Phenotype Correlations With Tbx1 In 1,022 Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Tingwei Guo, Donna Mcdonald-Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, The International Chromosome 22q11.2 Consortium
Genotype And Cardiovascular Phenotype Correlations With Tbx1 In 1,022 Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Tingwei Guo, Donna Mcdonald-Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, The International Chromosome 22q11.2 Consortium
Communication Disorders Faculty Publications
Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP (single nucleotide polymorphism) number in those with or without a congenital heart defect. One exception …
Lymphotoxin-Beta Receptor Blockade Reduces Cxcl13 In Lacrimal Glands And Improves Corneal Integrity In The Nod Model Of Sjögren's Syndrome, Roy A. Fava, Susan M. Kennedy, Sheryl G. Wood, Anne I. Bolstad, Jadwiga Bienkowska, Adrian Papandile, John A. Kelly
Lymphotoxin-Beta Receptor Blockade Reduces Cxcl13 In Lacrimal Glands And Improves Corneal Integrity In The Nod Model Of Sjögren's Syndrome, Roy A. Fava, Susan M. Kennedy, Sheryl G. Wood, Anne I. Bolstad, Jadwiga Bienkowska, Adrian Papandile, John A. Kelly
Dartmouth Scholarship
In Sjögren's syndrome, keratoconjunctivitis sicca (dry eye) is associated with infiltration of lacrimal glands by leukocytes and consequent losses of tear-fluid production and the integrity of the ocular surface. We investigated the effect of blockade of the lymphotoxin-beta receptor (LTBR) pathway on lacrimal-gland pathology in the NOD mouse model of Sjögren's syndrome.