Medicine and Health Sciences Commons^™

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

Kaleidoscope

No abstract provided.

Vigilância Em Doença Cerebrovascular [Portuguese], Paulo A. Lotufo

Paulo A Lotufo

No abstract provided.

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.

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 …

Non-Geometric Echocardiographic Indices Of Ventricular Function In Patients With A Fontan Circulation., Jonathan Rhodes, Renee Margossian, Lynn A. Sleeper, Piers Barker, Timothy J. Bradley, Minmin Lu, Mark Fogel, Matthew A. Harris, Wyman W. Lai, Andrew J. Powell, Michael D. Puchalski, Girish S. Shirali, Steven D. Colan, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Complex anatomy and limited windows complicate echocardiographic assessments of ventricular function in Fontan patients. For the Pediatric Heart Network Fontan Cross-Sectional Study, data were acquired from which mean ventricular pressure change during isovolumetric contraction (dP/dt(ic)), Tei index, and maximal systolic annular velocity (S') could be measured. The purpose of this study was to compare these nongeometric indices of ventricular function to cardiac magnetic resonance (CMR) measurements of ventricular ejection fraction (EF).

METHODS: Echocardiographic and CMR studies were performed prospectively using standardized protocols; measurements were completed by core laboratories. Data from both modalities were available from 137 patients.

RESULTS: A …

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 …

Huntington’S Disease In The News And Entertainment Media - Part I: Stigma And Genetic Testing, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Living With Alzheimer’S Disease: A Study Of Adult Day Health Services In Massachusetts, Nina M. Silverstein, Cathy M. Wong, Kristen E. Brueck

Nina Silverstein

The role of adult day health care (ADHC) is gaining increased attention as the nation prepares for the large cohort of baby boomers entering their later years. Many boomers are aging with physical and cognitive impairments, including Alzheimer's disease and related dementias. Projections indicate that Massachusetts, along with the nation as a whole, is experiencing an increasing rate of older persons as baby boomers enter late-life. The Commonwealth can expect that persons with Alzheimer's disease and their care partners will need community-based services that are specifically designed for adults with cognitive impairments. However, a report by the Robert Wood Johnson …

Chronic Disease Self-Management Programs: Relevance For Persons With Dementia, Nina M. Silverstein, Alison S. Gottlieb

Nina Silverstein

The context for this study is the work of the Healthy Brain Initiative. The CDC has established a cooperative agreement with the Alzheimer’s Association to develop and implement a multifaceted approach to look at cognitive health as a public health issue. Late in 2010, the Association commissioned a review of the major chronic disease prevention programs from a systems approach to begin to understand the source of findings that Medicare beneficiaries with Alzheimer’s and related disorders are much higher cost than those simply with a single chronic disease and no AD. This led to the conclusion that Chronic Disease Self‐Management …

Characterization Of Street Food Consumption In Palermo: Possible Effects On Health, Silvio Buscemi, Annamaria Barile, Vincenza Maniaci, John A. Batsis

Dartmouth Scholarship

Background: Street Food (SF) consists of out-of-home food consumption and has old, historical roots with complex social-economic and cultural implications. Despite the emergence of modern fast food, traditional SF persists worldwide, but the relationship of SF consumption with overall health, well-being, and obesity is unknown.

Methods: This is an observational, cross-sectional study. The study was performed in Palermo, the largest town of Sicily, Italy. Two groups were identified: consumers of SF (n = 687) and conventional restaurant food (RES) consumers (n = 315). Study subjects answered a questionnaire concerning their health conditions, nutritional preferences, frequency of consumption of SF and …

With His Hands, David J. Malebranche

David J Malebranche

No abstract provided.

Huntington’S Disease And The Financial Jitters, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Genome-Wide Association Study Identifies Loci Influencing Concentrations Of Liver Enzymes In Plasma, John C. Chambers, Weihua Zhang, Joban Sehmi, Xinzhong Li, Mark N. Wass, Pim Van Der Harst, Hilma Holm, Serena Sanna, Maryam Kavousi, Chun Xu

Health & Biomedical Sciences Faculty Publications and Presentations

Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10−8 to P = 10−190). We used functional genomic approaches including metabonomic profiling and gene expression analyses to identify probable candidate genes at these regions. We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A …

Unique Phenotype In A Patient With Charge Syndrome., Shobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, Irene Meliciani, Wolfgang Wenzel, Ingo Kurth, Josefina Sharma, Morris Schoeneman, Svetlana Ten, Lawrence C. Layman, Elka Jacobson-Dickman

Manuscripts, Articles, Book Chapters and Other Papers

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of features are emerging, and overlap with disorders such as DiGeorge syndrome, Kallmann syndrome, and Hypoparathyroidism Sensorineural Deafness and Renal Disease syndrome, is increasingly evident. We present a patient with a unique manifestation of CHARGE syndrome, including primary hypoparathyroidism and a limb anomaly; to our knowledge, he is also the …

Calcium-Mediated Mechanisms Of Cystic Expansion, Shakila Abdul-Majeed, Surya M. Nauli

Pharmacy Faculty Articles and Research

In this review, we will discuss several well-accepted signaling pathways toward calcium-mediated mechanisms of cystic expansion. The second messenger calcium ion has contributed to a vast diversity of signal transduction pathways. We will dissect calcium signaling as a possible mechanism that contributes to renal cyst formation. Because cytosolic calcium also regulates an array of signaling pathways, we will first discuss cilia-induced calcium fluxes, followed by Wnt signaling that has attributed to much-discussed planar cell polarity. We will then look at the relationship between cytosolic calcium and cAMP as one of the most important aspects of cyst progression. The signaling of …

Bdnf And ‘Neurobics’: Building A ‘Beautiful Mind’ Against Huntington's, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Long-Term Trends In Short-Term Outcomes In Acute Myocardial Infarction, Hoa Nguyen, Jane Saczynski, Joel Gore, Molly Waring, Darleen Lessard, Jorge Yarzebski, George Reed, Frederick Spencer, Shu-Xia Li, Robert Goldberg

Jorge L. Yarzebski

BACKGROUND: The objectives of this study were to examine the magnitude of, and 20-year trends in, age differences in short-term outcomes among men and women hospitalized with acute myocardial infarction (AMI) in central Massachusetts.

METHODS: The study population consisted of 5907 male and 4406 female residents of the Worcester, MA, metropolitan area hospitalized at all greater Worcester medical centers with AMI between 1986 and 2005.

RESULTS: Overall, among both men and women, older patients were significantly more likely to have developed atrial fibrillation, heart failure, and to have died during hospitalization and within 30 days after admission compared with patients …

Maternal And Fetal Plasma Protein Changes In Fetal Growth Restriction, Maxim D. Seferovic

Electronic Thesis and Dissertation Repository

Fetal Growth Restriction (FGR) is caused by impaired maternal-fetal exchange of oxygen and nutrients causing fetal hypoxia and starvation. A functional failure of the placenta is the underlying cause, however the pathophysiology remains unknown. The fetus adapts by limiting growth, reducing demand for metabolic substrates. Monitoring the fetal size is the primary clinical method of FGR detection, though it does not distinguish a constitutionally small fetus from a pathological. Proteomic profiling of fetal and maternal plasma was therefore undertaken for discovery of biomarkers and pathological mechanisms. As a model of hepatic secreted fetal plasma proteins, HepG2 cell secretion changes in …

Neuroprotective Effects Of Bilobalide Are Accompanied By A Reduction Of Ischemia-Induced Glutamate Release In Vivo, Dorothee Lang, Cornelia Kiewert, Alexander Mdzinarishvili, Tina Maria Schwarzkopf, Rachita K. Sumbria, Joachim Hartmann, Jochen Klein

Pharmacy Faculty Articles and Research

Neuroprotective properties of bilobalide, a specific constituent of Ginkgo extracts, were tested in a mouse model of stroke. After 24 h of middle cerebral artery occlusion (MCAO), bilobalide reduced infarct areas in the core region (striatum) by 40–50% when given at 10 mg/kg 1 h prior to MCAO. Neuroprotection was also observed at lower doses, or when the drug was given 1 h past stroke induction. Sensorimotor function in mice was improved by bilobalide as shown by corner and chimney tests. When brain metabolism in situ was monitored by microdialysis, MCAO caused a rapid disappearance of extracellular glucose in the …

Making Sense Of Huntington’S Organizations, And A Call For Unity, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Comparative Immunogenicity Of Na-Gst-1 Human Hookworm Vaccine With Synthetic Glucopyranosyl Lipid Adjuvant (Gla) In Balb/C Mice, Amar R. Jariwala, Brian Keegan, Jordan L. Plieskatt, Maria Elena Bottazzi, Peter J. Hotez, Jeffrey M. Bethony

Microbiology, Immunology, and Tropical Medicine Posters and Presentations

More than 740 million people worldwide are infected with Hookworm. Hookworm infection is most prevalent in the poorest of the poor populations of the world, and has serious health effects. Hookworm infection causes blood loss leading to iron deficiency anemia and protein energy malnutrition, which results in a compromised immune response. Consequently, the target human population suffers from an increased susceptibility to infectious diseases including hookworm infection. We have developed recombinant adult hookworm vaccines against hookworm infection to break this vicious cycle. Toll-like receptor (TLR) 4 agonist are known to boost immune response in healthy and immunocompromised individuals. We believe …

We Are… Bridging Medicine And Science Vol. 1, Issue 1, Fall 2011, Marshall University Biomedical Sciences

We Are... Bridging Medicine Science

No abstract provided.

Transgenic C. Elegans Dauer Larvae Expressing Hookworm Phospho Null Daf-16/Foxo Exit Dauer, Verena Gelmedin, Thomas Brodigan, Xin Gao, Michael Krause, Zhu Wang, John M. Hawdon

Research Center for Neglected Diseases of Poverty

Parasitic hookworms and the free-living model nematode Caenorhabtidis elegans share a developmental arrested stage, called the dauer stage in C. elegans and the infective third-stage larva (L3) in hookworms. One of the key transcription factors that regulate entrance to and exit from developmental arrest is the forkhead transcription factor DAF-16/FoxO. During the dauer stage, DAF-16 is activated and localized in the nucleus. DAF-16 is negatively regulated by phosphorylation by the upstream kinase AKT, which causes DAF-16 to localize out of the nucleus and the worm to exit from dauer. DAF-16 is conserved in hookworms, and hypothesized to control recovery from …

Frequency Of Silent Myocardial Ischaemia In Diabetics: A Single Centre Study, Adil Sheikh, Syed Shah Faisal, Abdul Jabbar

Section of Diabetes, Endocrinology and Metabolism

OBJECTIVE: To find the frequency of silent myocardial ischaemia in diabetics as compared to non-diabetics.

METHODS: This was a cross sectional study conducted between November 2008 and March 2010. Two hundred subjects were recruited by convenience sampling after informed consent. All were subjected to an exercise stress test. Electrocardiographic changes were noted for silent Ischaemia Descriptive Statistics were applied for significance.

RESULT: Of the 200 subjects included in the study, 31 had diabetes and 1 69 were non-diabetics. The mean age was 46 +/- 10 years. Twenty eight subjects tested positive for silent ischaemia, of whom six were diabetics (19%) …

Executive Summary: The Management Of Community-Acquired Pneumonia In Infants And Children Older Than 3 Months Of Age: Clinical Practice Guidelines By The Pediatric Infectious Diseases Society And The Infectious Diseases Society Of America., John S. Bradley, Carrie L. Byington, Samir S. Shah, Brian Alverson, Edward R. Carter, Christopher Harrison, Sheldon L. Kaplan, Sharon E. Mace, George H. Mccracken, Matthew R. Moore, Shawn D. St Peter, Jana A. Stockwell, Jack T. Swanson, Pediatric Infectious Diseases Society And The Infectious Diseases Society Of America

Manuscripts, Articles, Book Chapters and Other Papers

Evidenced-based guidelines for management of infants and children with community-acquired pneumonia (CAP) were prepared by an expert panel comprising clinicians and investigators representing community pediatrics, public health, and the pediatric specialties of critical care, emergency medicine, hospital medicine, infectious diseases, pulmonology, and surgery. These guidelines are intended for use by primary care and subspecialty providers responsible for the management of otherwise healthy infants and children with CAP in both outpatient and inpatient settings. Site-of-care management, diagnosis, antimicrobial and adjunctive surgical therapy, and prevention are discussed. Areas that warrant future investigations are also highlighted.

Age At Diagnosis Of Diabetes In Appalachia, Lawrence Barker, Robert Gerzoff, Richard Crespo, Molly Shrewsberry

Family and Community Health

Background

Appalachia is a region of the United States noted for the poverty and poor health outcomes of its residents. Residents of the poorest Appalachian counties have a high prevalence of diabetes and risk factors (obesity, low income, low education, etc.) for type 2 diabetes. However, diabetes prevalence exceeds what these risk factors alone explain. Based on this, the history of poor health outcomes in Appalachia, and personally observed high rates of childhood obesity and lack of concern about prediabetes, we speculated that people in Appalachia with diagnosed diabetes might tend to be diagnosed younger than their non-Appalachian counterparts.

Methods …

Functional Plasticity Of Central Trpv1 Receptors In Brainstem Dorsal Vagal Complex Circuits Of Streptozotocin-Treated Hyperglycemic Mice, Andrea Zsombok, Muthu D. Bhaskaran, Hong Gao, Andrei V. Derbenev, Bret N. Smith

Physiology Faculty Publications

Emerging data indicate that central neurons participate in diabetic processes by modulating autonomic output from neurons in the dorsal motor nucleus of the vagus (DMV). We tested the hypothesis that synaptic modulation by transient receptor potential vanilloid type 1 (TRPV1) receptors is reduced in the DMV in slices from a murine model of type 1 diabetes. The TRPV1 agonist capsaicin robustly enhanced glutamate release onto DMV neurons by acting at preterminal receptors in slices from intact mice, but failed to do so in slices from diabetic mice. TRPV1 receptor protein expression in the vagal complex was unaltered. Brief insulin preapplication …

Targeting Diseases Beyond Our Borders, Richard Wamai

Richard G. Wamai

No abstract provided.

Waiting For Symptoms: How Long Can I Hang On?, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.