Diseases Commons^™

Abnormal Glycosylation In Joubert Syndrome Type 10., Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Gilbert Vezina, +Several Additional Authors

Neurology Faculty Publications

BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome.

METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband. Analyses of cilia formation and lectin staining were performed by immunofluorescence. Measurement of cellular nucleotide sugar levels was performed with high-performance anion-exchange chromatography with pulsed amperometric …

The Effect Of Hiv Infection And Hcv Viremia On Inflammatory Mediators And Hepatic Injury-The Women's Interagency Hiv Study., Sheila M Keating, Jennifer L Dodge, Philip J Norris, John Heitman, Stephen J Gange, Audrey L French, Marshall J Glesby, Brian R Edlin, Patricia S Latham, Maria C Villacres, Ruth M Greenblatt, Marion G Peters

Pathology Faculty Publications

Hepatitis C virus infection induces inflammation and while it is believed that HIV co-infection enhances this response, HIV control may reduce inflammation and liver fibrosis in resolved or viremic HCV infection. Measurement of systemic biomarkers in co-infection could help define the mechanism of inflammation on fibrosis and determine if HIV control reduces liver pathology. A nested case-control study was performed to explore the relationship of systemic biomarkers of inflammation with liver fibrosis in HCV viremic and/or seropositive women with and without HIV infection. Serum cytokines, chemokines, growth factors and cell adhesion molecules were measured in HIV uninfected (HIV-, n = …

Addressing Antibiotic Resistance From Farm-Raised Fish Imported To The United States, Nicholas Ali

Bard Center for Environmental Policy

Misuse of medically important antibiotics in animal production threatens the effectiveness of drugs that are vital in combating disease and infections. Recently, the FDA implemented regulations to limit the use of and access to veterinary drugs. However, these regulations only affect domestic production operations. Because over 90% of seafood consumed in the U.S. is imported from countries with different regulatory standards and because the U.S. has an import inspection rate of less than 1%, antibiotic resistance stemming from imported aquaculture is still a risk that is not sufficiently accounted for. This research investigates how the U.S. has reacted to the …

Regulation Of Biliary Progenitor Cell Proliferation By Hedgehog Signaling In In Vivo And Ex Vivo Organoid Models, Nataliya Razumilava M.D., Junya Shiota M.D., Ramon Ocadiz-Ruiz Ph.D., Nureen Hanisah Mohamad Zaki, Kais Zakharia M.D., Michael Mathew Hayes, Juanita Lynn Merchant M.D., Ph.D.

Hepatobiliary Cancers: Pathobiology and Translational Advances

No abstract provided.

Prophylactic Use Of Metformin To Decrease The Incidence Of Breast Cancer In High Risk, Predisposed Women, Aly Dahl

Physician Assistant Scholarly Project Posters

• Breast cancer is one of the most common types of cancer in American women and is the second leading cause of mortality.

• In 2015, 234,190 new diagnoses were made and 40,730 deaths from breast cancer.

• Along with a thorough history from the patient, there are also several risk assessment models that should be utilized, such as the common Gail-2 model.

• Any women with a significant family history should also be educated on genetic counseling and/or testing to detect a BRCA1 or 2 mutation.

• Numerous individuals who are positive for this gene elect to undergo prophylactic …

Analysis Of Metabolic Syndrome As A Modifiable Risk Factor For Prostate Cancer, Michael Butler

Physician Assistant Scholarly Project Posters

• Prostate cancer and metabolic syndrome are both prevalent among men in developed countries with peak incidence after age 50.

• Prostate cancer has no known modifiable risk factors.

• Most risk factors for metabolic syndrome are modifiable.

• If metabolic syndrome is identified as contributing to the risk of prostate cancer it would give an element of self determination to men at risk for prostate cancer.

• Past studies provide conflicting results in the correlation between these two conditions.

• A literature review was performed to evaluate consistencies in current literature.

• Metabolic syndrome or its components do not …

The Effect Of Statins In Primary Prevention On All-Cause Mortality, Brian Adams

Physician Assistant Scholarly Project Posters

During routine yearly physicals, primary care providers often evaluate serum laboratory lipid levels. Many of these patients have no past medical history of cardiovascular events related to atherosclerotic disease. Some patients do not have secondary risk factors, such as diabetes mellitus or smoking history.

Previous cardiovascular events provide stronger indications for the use of HMG-CoA reductase inhibitors (statins). In the absence of these, the provider may turn to current guidelines, in this case the 2013 the American College of Cardiology and the American Heart Association published the 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular …

Sucrase-Isomaltase Deficiency, An Under Considered Diagnosis, Lindsay Venn

Physician Assistant Scholarly Project Posters

• Persistent gastrointestinal (GI) complaints are a common problem in patients presenting to family practice for care.

• Irritable bowel syndrome (IBS) is a diagnosis that adult patients are labeled with when clinicians have exhausted their differential list and no other cause of their GI symptoms can be confirmed.

• Sucrase-isomaltase deficiency (SID) has been historically shown to present early in life as a congenital disorder, but researchers are now recognizing occurrence later in life as a mild or secondary disorder.

• The literature emphasizes the disconcerting prevalence of sucrase-isomaltasedeficiency (SID), the persistent symptoms associated with it, and the need …

The Postnatal Management Of Gestational Diabetes, Savannah Prodzinski

Physician Assistant Scholarly Project Posters

• Diabetes mellitus is growing substantially in our nation. Between its natural progression and effects on other body systems, this epidemic is costing us billions of dollars a year.

• Although gestational diabetes typically resolves after pregnancy, women who have had gestational diabetes in the past have a largely increased risk for the development of diabetes mellitus in the future.

• Several things contribute to the development of GDM and DM: decline in β-cell function, lower adiponectin levels and HgbA1C levels in the third trimester.

• Intervening during the critical time after delivery in women with gestational diabetes, will theoretically …

Treatment Options For Patients With Irritable Bowel Syndrome & Comorbid Depression, Elizabeth Morton

Physician Assistant Scholarly Project Posters

• Irritable bowel syndrome & depression are common comorbidities, however there is a wide variability regarding the appropriate treatment regimens for these patients.

• IBS is classified as a functional bowel disease in which patients suffer from recurrent abdominal pain or discomfort associated with alterations in bowel habits.

• While the cause of IBS is multifactorial, studies have revealed that the dysfunction of the brain-gut pathways are a culprit to disease appearance and progression, as seen in the biopsychosocial model of IBS. This model proposes that abdominal symptoms secondarily impact anxiety & depression symptoms and that psychological factors influence physiologic …

Alpha-1 Deficiency: Better Detection May Improve Outcomes For Copd Patients, Angela Schuster

Physician Assistant Scholarly Project Posters

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that results in debilitating illnesses like: emphysema, COPD, liver disease, and panniculitis. AATD is highly under-diagnosed based on epidemiologic and population studies that suggest that fewer than 10% of the 60,000-100,000 individuals in the U.S. suspected to have severely deficient alleles have been identified ( Rahaghi et al., 2012). This study examines strategies aimed at improving detection of AATD. The findings indicate that utilizing flags to alert providers of the need for AATD testing initiated by RTs or automated within EMR systems are effective strategies for increasing testing rates and potentially improving …

A Rare Breed: Wild-Type Braf And Ighv Expression In A 29 Year Old Lady With Classical Hairy Cell Leukemia, A. Hossain, Hind Rafei, Amar Jariwala, Khaled El-Shami

Medicine Faculty Publications

The V600 BRAF mutation has been described as a key mutation in the pathogenesis of classical hairy cell leukemia (c-HCL) cases without expression of a mutant immunoglobulin heavy chain (IgHV). Here we present a rare case of c-HCL with neither V600 BRAF mutation nor the aforementioned IgHV variant successfully treated with cladribine and review the current literature on its use in women of childbearing age/pregnancy.

Toward A Rapid Production Of Multivirus-Specific T Cells Targeting Bkv, Adenovirus, Cmv, And Ebv From Umbilical Cord Blood, Hema Dave, Min Luo, J.W. Blaney, Shabnum Patel, Cecilia Barese, Conrad Russell Cruz, Elizabeth J. Shpall, Catherine M. Bollard, Patrick J. Hanley

Pediatrics Faculty Publications

Umbilical cord blood (CB) has emerged as an effective alternative donor source for hematopoietic stem cell transplantation. Despite this success, the prolonged duration of immune suppression following CB transplantation and the naiveté of CB T cells leave patients susceptible to viral infections. Adoptive transfer of ex vivo-expanded virus-specific T cells from CB is both feasible and safe. However, the manufacturing process of these cells is complicated, lengthy, and labor-intensive. We have now developed a simplified method to manufacture a single culture of polyclonal multivirus-specific cytotoxic T cells in less than 30 days. It eliminates the need for a live virus …

Characterization Of Malt1 Inhibitors And Their Effect On Leukemic Cell Growth Properties, Christina Snyder

Graduate School of Biomedical Sciences Theses and Dissertations

Leukemia is the most common childhood cancer, with a combined 40,000 predicted new cases in the United States in 2016 [8]. The two most common subtypes are acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL) [9-11]. The commercially available inhibitor of Bruton’s tyrosine kinase (BTK) has shown promising results in clinical trials for CLL because of the importance of BCR signaling in CLL [12-15]. Recent studies suggest that the outgrowth of BTK inhibitor resistant clonal cells in some CLL patients results in a treatment-refractory phenotype [16-18]. MALT1, a protein involved in BCR activation of the NF-κB pathway that functions …

Commonly Used H1 And H2 Histamine Receptor (Hr) Blockers Decrease Cholangiocarcinoma Xenograft Tumor Growth, Angiogenesis And Emt, Lindsey Kennedy, Laura Hargrove, Jennifer Demieville, Walker Karstens, Steven Smith, Heather Francis

Hepatobiliary Cancers: Pathobiology and Translational Advances

No abstract provided.

Development Of Cellular Assays To Monitor Enzymatic And Biological Activity Of Cd73: A Key Modulator Of Anti-Tumor Immune Response, Alexandra Fanuka

Graduate School of Biomedical Sciences Theses and Dissertations

Ecto-5’-nucleotidase, known as CD73, is an extracellular enzyme that converts adenosine monophosphate (AMP) to adenosine and has recently been identified as a potential drug target for cancer immunotherapy. Its immunosuppressive effects, mediated by the activity of adenosine, are associated with higher rates of tumor invasion and metastasis, as well as poorer prognoses overall in many cancer types. CD73 is often co-expressed with ectonucleoside triphosphate diphosphohydrolase-1 (CD39), which catalyzes the conversion of adenosine triphosphate (ATP) to adenosine diphosphate (ADP), and ADP to AMP on the surface of tumor cells. Dual expression further propagates immunosuppressive effects of adenosine in the tumor microenvironment. …

Changing Hearts And Minds: Results From A Multi-Country Gender And Sexual Diversity Training, Tonia Poteat, Chulwoo Park, Diego Solares, John K. Williams, R. Cameron Wolf, Noah Metheny, Andrea Vazzano, Juan Dent, Ashley Gibbs, Bareng Aletta Sanny Nonyane, Nora Toiv

Faculty Publications

Engaging key populations, including gender and sexual minorities, is essential to meeting global targets for reducing new HIV infections and improving the HIV continuum of care. Negative attitudes toward gender and sexual minorities serve as a barrier to political will and effective programming for HIV health services. The President’s Emergency Plan for AIDS Relief (PEPFAR), established in 2003, provided Gender and Sexual Diversity Trainings for 2,825 participants including PEPFAR staff and program implementers, U.S. government staff, and local stakeholders in 38 countries. The outcomes of these one-day trainings were evaluated among a subset of participants using a mixed methods pre- …

Why Is There An Association Between Retinal Vein Occlusion, Vision Loss, Myocardial Infarction, Stroke And Mortality: Potential Roles Of Hypomagnesaemia, Release Of Sphingolipids, And Platelet-Activating Factor, Burton M. Altura, Asefa Gebrewold, Nilank C. Shah, Aimin Zhang, Wenyan Li, Lawrence M. Resnick, Bella T. Altura

Touro College of Osteopathic Medicine (Middletown) Publications and Research

Although numerous hypotheses (and potential risk factors), have been offered to explain the origins and potential mechanism(s) for central retinal vein occlusion (RVO) in patients of diverse ages, there is no agreement. Recently, considerable epidemiological evidence has been brought forth which indicates a strong association between RVO, myocardial infarctions, heart failure, and stroke. Magnesium (Mg) deficiency (mgD) has long-been associated with glaucoma and diabetic retinopathy. Over the past three decades, our laboratories have found strong associations of mgD linked to morbidity/ mortality in cardiovascular diseases such as myocardial infarctions, cardiac failure, atherogenesis, and strokes, both experimentally and clinically. More recently, …

Reliability And Validity Of The Hd-Pro-Triadtm, A Health-Related Quality Of Life Measure Designed To Assess The Symptom Triad Of Huntington's Disease., Nicholas R Boileau, Julie C Stout, Janes S Paulsen, David Cella, Michael K Mccormack, Martha A Nance, Samuel Frank, Jin-Shei Lai, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable.

OBJECTIVES: The current study evaluates the reliability and validity of the HD-PRO-TRIADTM in a well-characterized sample of individuals with HD.

METHODS: Four-hundred and eighty-two individuals with HD (n = 192 prodromal, n = 193 early, and n …

Reduced Microrna-503 Expression Augments Lung Fibroblast Vegf Production In Chronic Obstructive Pulmonary Disease, Jun Ikari, Amy J. Nelson, Jannah Obaid, Alvaro Giron-Martinez, Kumiko Ikari, Fumihiko Makino, Shunichiro Iwasawa, Yoko Gunji, Maha Farid, Xingqi Wang, Hesham Basma, Dawn Demeo, Carol Feghali-Bostwick, Olaf Holz, Klaus Rabe, Xiangde Liu, Stephen I. Rennard

Journal Articles: Pulmonary & Critical Care Med

Alterations in microRNA (miRNA) expression may contribute to COPD pathogenesis. In COPD, lung fibroblast repair functions are altered in multiple ways, including extracellular mediator release. Our prior study revealed miR-503 expression is decreased in COPD lung fibroblasts, although the exact role played by miR-503 is undetermined. The current study examined a role of miR-503 in cytokine, growth factor and fibronectin production by lung fibroblasts from patients with and without COPD. Primary adult lung fibroblasts were isolated from patients with or without COPD. MiR-503 expression and interleukin (IL)-6, -8, PGE2, HGF, KGF, VEGF and fibronectin release were examined with or without …

Delirium Update For Postacute Care And Long-Term Care Settings: A Narrative Review., Martin M Forsberg

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Advances have been made in our understanding of the neuropathogenesis, recognition, and strategies for reducing the incidence of delirium in acute-care settings. However, relatively little attention has been given to delirium in elderly patients in the postacute care (PAC) and long-term care (LTC) settings. The present article reviews the most relevant current research pertaining to this population. Hospital patients with delirium are often discharged to PAC settings. Delirium that develops in the LTC setting is often more insidious and subtle in presentation. Despite incorporating systematic screening tools for delirium in PAC and LTC settings, delirium prevention strategies have not yet …

Convolutional Neural Networks For Predicting Skin Lesions Of Melanoma, Anuruddha Jayasekara Pathiranage

Regis University Student Publications (comprehensive collection)

Diagnosis of an unknown skin lesion is crucial to enable proper treatments. While curable with early diagnosis, only highly trained dermatologists are capable of accurately recognize melanoma skin lesions. Expert dermatologist classification for melanoma dermoscopic images is 65-66%. As expertise is in limited supply, systems that can automatically classify skin lesions as either benign or malignant melanoma are very useful as initial screening tools. Towards this goal, this study presents a convolutional neural network model, trained on features extracted from a highway convolutional neural network pretrained on dermoscopic images of skin lesions. This requires no lesion segmentation nor complex preprocessing. …

High Prevalence Of Non-Communicable Diseases And Associated Risk Factors Amongst Adults Living With Hiv In Cambodia, Pheak Chhoun, Sovannary Tuot, Anthony D. Harries, Nang Thu Thu Kyaw, Khuondyla Pal, Carinne M. Brody, Siyan Yi

BACKGROUND:

With rapid expansion of antiretroviral therapy for HIV, there are rising life expectancies among people living with HIV. As a result, co-morbidity from non-communicable diseases in those living and aging with HIV is increasingly being reported. Published data on this issue have been limited in Cambodia. The aim of this study was to determine the prevalence of diabetes mellitus, hypertension and hypercholesterolemia and associated risk factors in adults living with HIV in Cambodia.

METHODS:

This cross-sectional study was conducted in five provinces of Cambodia from May-June 2015. Information was obtained on socio-demographic and clinical characteristics through face-to-face interviews using …

Resting State Functional Network Disruptions In A Kainic Acid Model Of Temporal Lobe Epilepsy., Ravnoor Singh Gill, Seyed M Mirsattari, L Stan Leung

Physiology and Pharmacology Publications

We studied the graph topological properties of brain networks derived from resting-state functional magnetic resonance imaging in a kainic acid induced model of temporal lobe epilepsy (TLE) in rats. Functional connectivity was determined by temporal correlation of the resting-state Blood Oxygen Level Dependent (BOLD) signals between two brain regions during 1.5% and 2% isoflurane, and analyzed as networks in epileptic and control rats. Graph theoretical analysis revealed a significant increase in functional connectivity between brain areas in epileptic than control rats, and the connected brain areas could be categorized as a limbic network and a default mode network (DMN). The …

“Whatever It Takes To Beat Parkinson’S”: A Controversial Approach For Symptom Relief, Sondra M. Deskins

WRIT: Journal of First-Year Writing

It is known that there is no cure for Parkinson's disease. So, physicians who treat Parkinson's patients must decide what is the best treatment option for the patients symptoms to improve their quality of life. Currently, there are pharmaceutical options for treatment, but they include adverse side effects. What if there were a way to treat patients for the side effects as well as improve the patient's symptoms? The recent commotion around the legalization of marijuana, both recreational and medicinal, has caused interest among patients and physicians. One must decide if the benefits of using marijuana as a form of …

Sudan : Malaria, Olivia Jilek

Global Public Health

Sudan faces a great number of public health issues, however one of the most prevalent diseases within the country is Malaria. An estimated nine million cases were reported in 2002, with the total number of deaths at 44,000, in a country that has a population of 37,345,935. The research done on Malaria in Sudan looks at the basic epidemiology of the region, how to identify the disease, and major risks factors present. Other major challenges that Sudan faces are included, as well as suggestions for preventing further illness from the disease.

Israel : Translocation Of Rabies, Sarah Baker

Global Public Health

Israel is now faced with a steady growing public health threat as canine rabies has reemerged in the northern region of Israel. While the steady increase in cases is of notable alarm, moreover the close contact most often shared between dog and human populations is of much more concern from a public health prospective. Rabies is a vaccine-preventable disease. Vaccinating dogs has proven to be the most cost-effective strategy for preventing rabies in people. Additionally, education on bite prevention and rabid animal behaviors for both children and adults is an essential extension of the long term rabies vaccination program that …

Madagascar : Plague In Madagascar, Matthew Donald Hesch

Global Public Health

This public health brief calls attention to a disease issue in the country Madagascar. We show reasons as to why Madagascar has such a problem with the plague and what they should do to solve the issue. Madagascar has many areas that are high poverty because of a political crisis and this results in the easy spread of the plague. We show that Madagascar needs an increase in funds so that they can get out of the political crisis and begin fixing the plague issue. I offer ideas on how Madagascar could use the extra funds to overcome the plague …

Post-Transfusion Purpura: A Case Report Of An Underdiagnosed Phenomenon, Hind Rafei, Raza Yunus, Samah Nassereddine

Medicine Faculty Publications

Post-transfusion purpura is a rare transfusion-related complication that often goes undiagnosed. It is due to alloimmunization against platelet antigens which leads to acute profound thrombocytopenia following the transfusion of any platelet-containing product (red blood cells or platelets). It is commonly seen in multiparous women. Here, we report a case of post-transfusion purpura in a 56-year-old multiparous woman who developed acute thrombocytopenia seven days following a packed red blood cell transfusion. We will discuss the clinical presentation, diagnosis, workup and treatment of this rare disease. It is important to recognize this entity separately and to include it in the differential diagnosis …

Predictors Of High On-Aspirin Platelet Reactivity In Elderly Patients With Coronary Artery Disease., J W Zhang, W W Liu, Timothy A Mccaffrey, X Q He, W Y Liang, X H Chen, X R Feng, Sidney W Fu, M L Liu

Medicine Faculty Publications

Objectives

Previous studies have illustrated the link between high on-aspirin platelet reactivity (HAPR) with increasing thrombotic risks. The aim of our study was to investigate relative risk factors of HAPR in elderly patients with coronary artery disease.

Methods

Elderly, hospitalized coronary artery disease patients on regular aspirin treatment were enrolled from January 2014 to September 2016. Medical records of each patient were collected, including demographic information, cardiovascular risk factors, concomitant drugs and routine biological parameters. Arachidonic acid (AA, 0.5 mg/mL) and adenosine diphosphate (ADP, 5 µmol/L) induced platelet aggregation were measured via light transmission assay (LTA) to evaluate antiplatelet responses, …