Medicine and Health Sciences Commons^™

Copd: Do Imaging Measurements Of Emphysema And Airway Disease Explain Symptoms And Exercise Capacity?, Miranda Kirby, Damien Pike, Don D Sin, Harvey O Coxson, David G Mccormack, Grace Parraga

Medical Biophysics Publications

PURPOSE: To determine the role of imaging measurements of emphysema and airway disease in determining chronic obstructive pulmonary disease (COPD) symptoms and exercise limitation in patients with COPD, particularly in patients with mild-to-moderate disease.

MATERIALS AND METHODS: Participants (n = 116) with Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade U (unclassified) or grade I-IV COPD provided informed consent to an ethics board-approved HIPAA-compliant protocol and underwent spirometry and plethysmography, completed the St George's Respiratory Questionnaire (SGRQ), completed a 6-minute walk test for the 6-minute walk distance (6MWD), and underwent hyperpolarized helium 3 ((3)He) magnetic resonance (MR) imaging and …

Recessive Mutations In Polr1c Cause A Leukodystrophy By Impairing Biogenesis Of Rna Polymerase Iii., Isabelle Thiffault, Nicole I Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée-Adam, Christian Poitras, Bernard Brais, Grace Yoon, Laszlo Sztriha, Richard I. Webster, Dagmar Timmann, Bart P. Van De Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. Van Der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates, Benoit Coulombe, Geneviève Bernard

Manuscripts, Articles, Book Chapters and Other Papers

A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutations, in POLR1C impair assembly and nuclear import of POLR3, but not POLR1, leading to decreased binding to POLR3 target genes. This study is the first …

A Self-Lysis Pathway That Enhances The Virulence Of A Pathogenic Bacterium, Kirsty A. Mcfarland, Emily L. Dolben, Michele Leroux, Tracy K. Kambara, Kathryn Ramsey, Robin Kirkpatrick, Joseph Mougous, Deborah Hogan, Simon Dove

Dartmouth Scholarship

In mammalian cells, programmed cell death (PCD) plays important roles in development, in the removal of damaged cells, and in fighting bacterial infections. Although widespread among multicellular organisms, there are relatively few documented instances of PCD in bacteria. Here we describe a potential PCD pathway in Pseudomonas aeruginosa that enhances the ability of the bacterium to cause disease in a lung infection model. Activation of the system can occur in a subset of cells in response to DNA damage through cleavage of an essential transcription regulator we call AlpR. Cleavage of AlpR triggers a cell lysis program through de-repression of …

Genomic Copy Number Variation In Mus Musculus., M Elizabeth O Locke, Maja Milojevic, Susan T Eitutis, Nisha Patel, Andrea E Wishart, Mark Daley, Kathleen A. Hill

Brain and Mind Institute Researchers' Publications

BACKGROUND: Copy number variation is an important dimension of genetic diversity and has implications in development and disease. As an important model organism, the mouse is a prime candidate for copy number variant (CNV) characterization, but this has yet to be completed for a large sample size. Here we report CNV analysis of publicly available, high-density microarray data files for 351 mouse tail samples, including 290 mice that had not been characterized for CNVs previously.

RESULTS: We found 9634 putative autosomal CNVs across the samples affecting 6.87% of the mouse reference genome. We find significant differences in the degree of …

Ceramides Promote Apoptosis For Virus-Infected Lymphoma Cells Through Induction Of Ceramide Synthases And Viral Lytic Gene Expression, Lu Dai, Jimena Trillo-Tinoco, Aiping Bai, Yihan Chen, Jacek Bielawski, Luis Del Valle, Charles D. Smith, Augusto C. Ochoa, Zhiqiang Qin, Chris Parsons

School of Medicine Faculty Publications

Kaposi's sarcoma-associated herpesvirus (KSHV) is the etiologic agent for several human cancers including primary effusion lymphoma (PEL), a rapidly progressive malignancy arising preferentially in immunocompromised patients. With conventional chemotherapy, PEL continues to portend high mortality, dictating the development of novel therapeutic strategies. Sphingosine kinase 2 (SphK2) represents a key gatekeeper for sphingolipid metabolism, responsible for conversion of ceramides to sphingosine-1-phosphate (S1P). We have previously demonstrated that targeting SphK2 using a novel selective inhibitor, ABC294640, leads to intracellular accumulation of ceramides and induces apoptosis for KSHV-infected PEL cells, while suppressing tumor progression in vivo. In the current study, we sought to …

Bacterially-Based Immune Challenges And Trauma Elicit Terminal Investment In Male Aedes Aegypti, Molly K. Schumacher

Theses and Dissertations

Investment in life history traits such as immune function and reproduction is constrained by finite available resources. A cost-of-immunity trade-off may occur in response to infection when resources are diverted away from reproductive effort and into an immune response. Alternatively, an infected individual may enhance reproductive effort to maximize terminal reproductive success in response to the survival threat inherent to infection (terminal investment). We measured male Aedes aegypti reproductive behavior following inoculations with: living bacteria; killed bacteria as an immune elicitor; and a sham control. Mating competitiveness relative to naïve males was also determined through a binary mate choice experiment …

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity In The ∆7 Sma Mouse, Vicki L. Mcgovern, Aurelie Massoni-Laporte, Xueyong Wang, Thanh T. Le, Hao T. Le, Mark M. Rich, Arthur H. M. Burghes

Neuroscience, Cell Biology & Physiology Faculty Publications

Spinal muscular atrophy is caused by loss of the SMN1 gene and retention of SMN2. TheSMN2 copy number inversely correlates with phenotypic severity and is a modifier of disease outcome. The SMN2 gene essentially differs from SMN1 by a single nucleotide in exon 7 that modulates the incorporation of exon 7 into the final SMN transcript. The majority of the SMN2transcripts lack exon 7 and this leads to a SMN protein that does not effectively oligomerize and is rapidly degraded. However theSMN2 gene does produce some full-length SMN and theSMN2 copy number along with how …

Myasthenia Gravis, Abbe R. Feaver

Nursing Student Class Projects (Formerly MSN)

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by ocular, bulbar, facial, and skeletal muscle weakness due to a defect in the transmission of nerve to muscle impulses at the neuromuscular junction (Mestecky, 2013, p. 110). Approximately 14-20 in 100,000 people are diagnosed with myasthenia gravis in the United States (Leis, Moore, Kofler, Beric, De Visser, 2014, p. 112). Typically, diagnosis occurs in middle-aged adults with women generally acquiring the disease at a younger age than men (Mestecky, 2013, p. 110). MG has the potential to greatly affect the quality of life of a patient. Although the disease …

Neurocysticercosis, Abigail Hill

Nursing Student Class Projects (Formerly MSN)

Neurocysticercosis (NCC) is one of the most common parasitic infections of the central nervous system in humans and is the most serious clinical manifestation of cysticercosis. NCC is caused by the ingestion of the larval form of the pork tapeworm Taenia solium. NCC is endemic in low income developing countries where pigs are commonly raised, including the countries of Central America, South America, and parts of Africa and Asia. (Naddaf, Seeger, & Stafstrom, 2014). The parasite Taenia solium encysts in the brain and can express a broad range of symptoms including seizures, headache, hydrocephalus, encephalitis, stroke and mental health and …

Prevalence Of Sepsis In Pediatric Populations, Brittany Barnes

Nursing Student Class Projects (Formerly MSN)

Sepsis and more specifically septic shock in the pediatric population is a diagnosis that is full of complexities. There are instances where a neutropenic oncology patient observes a better outcome than a previously healthy patient who is suffering from the same pathogen related sepsis. Sepsis is the 10th leading cause of death according to the Center for Disease Control and Prevention, and each year between 20,000 and 42,000 children are diagnosed with severe sepsis (Riley & Wheeler, 2012). Even with significant advances in medical treatment, sepsis is still associated with high morbidity and mortality rates. A retrospective study of patient …

Marfan Syndrome In Athletes, Chelsey Hastings

Nursing Student Class Projects (Formerly MSN)

Genetic disorders are widely misunderstood in our society and can lead to early mortality. Marfan syndrome (MFS) is a genetic disorder that affects connective tissue (Harris, Croce, & Tian, 2014). Antoine Marfan, a French pediatrician, first described this disease in 1896 (Elshershari & Harris, 2014). MFS can manifest in several different organ systems. The cardiovascular complications of aortic dilation and dissection often account for the morbidity associated with this disease (Harris et al., 2014). Understanding the inheritance, pathophysiology, and treatment of MFS is important for the advanced practice nurse (APN). Prevalence of the disease is approximately two per 10,000 individuals, …

Granulomatosis With Polyangiitis (Wegner’S) : Often Mistaken For Tuberculosis, Dawn Palumbo

Nursing Student Class Projects (Formerly MSN)

The exact cause of GPA has yet to be identified. Dinić et al. (2013) defines GPA/WG as “anti-neutrophil cytoplasmic antibodies (ANCAs)- associated systemic vasculitis of unknown etiology” (p. 887). According to Alam, Dastider, Ahmed, and Rabbani (2012) both cellular and humoral immunity are thought to be involved in the pathogenesis of wegener’s granulomatosis. “ The initial pathologic lesion is granuloma believed to be caused by cellular immune process. The strong association on C-ANCA with this disease suggests the role of humoral immunity” (Alam et al., 2014, p. 98). Huang et al. (2013) suggest, “The main pathological features of limited Wegeners’ …

Basal Cell Carcinoma—A Preventable Disease, Jamie Weaver

Nursing Student Class Projects (Formerly MSN)

Basal cell carcinoma (BCC) is a nonmelanoma skin cancer. According to the Skin Cancer Foundation, “BCC is the most frequently occurring form of all skin cancers. More than one out of every three new cancers is a skin cancer, and the vast majority are BCC’s” (www.skincancer.org). Exposure to ultraviolet (UV) rays is one of the main risk factors in developing a BCC. People with a lighter skin tone are at a higher risk of developing a BCC than those with a darker skin tone.

Nash: Non-Alcoholic Steatohepatitis, Jennifer Heck

Nursing Student Class Projects (Formerly MSN)

Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease which refers to the presence of hepatic steatosis without significant intake of alcohol. Non-alcoholic fatty liver disease develops in a variety of forms from reversible simple steatosis to non-alcoholic steatohepatitis (NASH), which if left unchecked can progress to liver fibrosis, cirrhosis and even develop into hepatocellular carcinoma (Mells et al., 2014). NAFLD is thought to be nonthreatening, but with progression over several years could lead to NASH. A strong link between obesity and NASH has been shown. In addition to obesity, insulin resistance (type II diabetes mellitus), and hyperlipidemia all …

Non-Valvular Atrial Fibrillation And Stroke: Novel Oral Anticoagulants Versus Vitamin K Antagonists, Kathryn A. Viglietta

Nursing Student Class Projects (Formerly MSN)

Atrial fibrillation (afib) is the most common sustained cardiac arrhythmia and second most common cardiovascular condition in adults in the United States (Zarraga & Kron, 2012). •2.2 million affected, increases risk of stroke 4 to 6 times (National Institute of Neurological Disorders and Stroke [NINDS], 2015). •Vitamin K antagonists (VKAs) have been mainstay of therapy for over 60 years (King, Holley& Moores, 2013). •Limitations with VKAs such as variability in response, need for frequent lab draws, food and drug interactions which decrease patients adherence and under prescribing by physicians (Halperin & Goyette, 2012). •Novel oral anticoagulants (NOACs) have been approved …

Gout, Lorrie Listebarger

Nursing Student Class Projects (Formerly MSN)

Gout is a syndrome caused by an inflammatory response creating an over production of uric acid increasing uric acid levels in the blood and body fluids. Gout is defined as a disorder resulting from tissue deposition of MSU crystals (in joints, bursae, bone, and certain other soft tissues, such as ligaments, tendons and occasionally, skin) and/or crystallization of uric acid within the renal collecting system (tubules and renal pelvis) that typically occurs in acid urine” (Terkeltaub & Edwards, 2013, p. 20). Gout is among the oldest diseases affecting approximately 3.9% of adults in America (Terkeltaub & Edwards, 2013, p. xv). …

Diabetic Ketoacidosis, Mario Bianconi

Nursing Student Class Projects (Formerly MSN)

According to “Statistics About Diabetes” (2014), in 2012, 29.1 million Americans, or 9.3% of the population, had diabetes. Additionally, of the 29.1 million, 21 million of the population were diagnosed, and 8.1 million were undiagnosed. With such a high prevalence, it is imperative that the hospital nurse is aware not only how to treat diabetes, but also how to look for complications of diabetes. One of the severe complications of diabetes is Diabetic Ketoacidosis, or DKA. DKA occurs as a result of prolonged untreated diabetes. It is the result of the body not being able to produce, or use, insulin …

Neurological, Nutritional And Cognitive Effects Of Environmental Lead Exposure In Infants And Children, Melissa Bianchi

Nursing Student Class Projects (Formerly MSN)

Environmental lead exposure is a pertinent public health risk that affects our rural population in Wyandot County, Ohio. Children exposed to lead hazards through toys, home remodeling and contaminated soil and water are at a greater risk for developing neurological, cognitive and behavioral issues than are children not exposed to lead (Cecil et al., 2011). Wyandot County parents are not adequately educated on the risks and consequences of elevated blood lead levels in their children. As a child advocate and director of the Women, Infant and Children program for Wyandot County there is an obligation to educate and inform parents …

Neuroleptic Malignant Syndrome: A Pathophysicological Dilemma, Samantha Davis

Nursing Student Class Projects (Formerly MSN)

Neuroleptic malignant syndrome (NMS) is a rare disease occurring from an adverse reaction to anti-psychotic use. The diagnosis and predictability of the disease is extremely difficult as it mimics other syndromes (Margetić & Aukst-Margetić, 2010). The disease onset can occur when initiating medications, escalating doses, or adding an adjunctive anti-psychotic to the regimen. Although causing the unpredictability, the disease can occur at any dose (Paul, Michael, John, & Lenox, 2012). Further increasing the difficulty of diagnostics, signs and symptoms are very wide spread. The Diagnostic and Statistical Manual of Mental Disorders created a tool to assist in the clinical setting; …

Raynaud’S Phenomenon, Sarah Gasper

Nursing Student Class Projects (Formerly MSN)

Raynaud’s phenomenon (RP) is a widely prevalent clinical disorder commonly seen in outpatient settings. It is characterized by episodic vasospastic attacks of the digital arteries and arterioles that limit blood flow to the extremities, causing severe pain. Temperature changes and stress are the primary triggers that exacerbate this disease. The classic biphasic color changes of RP are pallor, cyanosis, and erythema and commonly affect the fingers and toes and more rarely, the nose, nipples, ears, lips, and penis. RP is divided into subcategories. Primary Raynaud’s phenomenon (PRP) is when no underlying medical disease exists and the condition happens spontaneously. It …

Polycystic Ovarian Syndrome, Tameka Todd

Nursing Student Class Projects (Formerly MSN)

The main goal of this project was to educate peers on the pathophysiology of a disease or disorder of choice. The topic to be discussed is Polycystic Ovarian Syndrome (PCOS). This topic was chosen based on personal interest in women’s health issues. PCOS is a metabolic disease affecting 5-10 percent of women of childbearing age (Morgan, 2013). Characteristics of PCOS include enlarged ovaries consisting of multiple small cysts surrounding the outer ovary, with unknown cause (Morgan, 2013). Leading to the ovaries producing an increased amount of androgen (male hormones) (Morgan, 2013).

Multiple Sclerosis And The Implications Of Anesthesia, Timothy B. Maiden

Nursing Student Class Projects (Formerly MSN)

Multiple Sclerosis (MS) is an autoimmune process characterized by inflammation and demyelination of axons in the brain and spinal cord (Schneider, 2005). According to Maclean (2010), MS is one of the most common debilitating neurological disorders in young adults. My intent of this research project is to explain the pathophysiological process and become familiar with the implications of anesthesia related to MS. This research will enable me to prepare a safe, individualized anesthetic plan, taking all essential precautions when caring for a patient with multiple sclerosis.

Chagas Disease: Immigrating Into The United States, Angela Metzger

Nursing Student Class Projects (Formerly MSN)

Chagas Disease is starting to make a profound entrance into our communities within the United States. The influx of the immigrant population is the principal cause of the accumulation in the number of reported cases. (Center for Disease Control and Prevention, 2014). The Trypanosoma cruzi is a parasite that causes Chagas disease. The triatomine blood sucking insect enjoys the mucosal membranes of their pray, both humans and animals. The most common regions of the penetrating bite are the conjunctiva of the eye or around the mouth. It is through the feces of the vector entering the inoculation site that initiates …

Exploring The Pathophysiological Concepts Of Ebola Virus, Andrew T. Wasson

Nursing Student Class Projects (Formerly MSN)

The Ebola virus is a member of the filoviridae family. Five distinctive species of ebolavirus have been identified, four of which are known to cause disease in humans (Martines, Ng, Greer, Rollin, and Zaki, 2014). The specific species known to cause disease in humans are Zaire, Sudan, Ivory Coast, and Bundibugyo (Bray & Chertow, 2014). Bah et al. (2015) report that the Zaire ebolavirus (EBOV) was the cause of the most recent West African outbreak and carries the highest human mortality rate among the five known species, with up to 90% of cases being fatal. Ebola is a filamentous, enveloped, …

Maggot Therapy For Treating Diabetic Foot Ulcers, Amber Nikolaus

Nursing Student Class Projects (Formerly MSN)

Diabetes mellitus, Type 1 and Type 2, are associated with numerous debilitating consequences. One of the most common and serious complication is diabetic foot ulcers (DFU) (Baltzis, Elftheriadou, and Veves, 2014, p.817). DFUs are “caused by loss of glycemic control, peripheral neuropathy, peripheral vascular disease, and immunosuppression” and account for greater than 80,000 amputations per year in the United States (Aumiller & Dollahite, 2015, p.28). Approximately 15% of people with diabetes have diabetic foot ulcers (Aumiller & Dollahite, 2015, p.28) and studies demonstrate that 45% to 55% of patients presenting with neuropathic and ischemic diabetic foot ulcers will die within …

Chikungunya Virus: More Than A Mosquito Bite, Abigail Shaw

Nursing Student Class Projects (Formerly MSN)

Chikungunya fever is a viral infection caused by the Chikungunya virus (CHIKV). Although seldom fatal, CHIKV causes high fevers, polyarthralgia, and rash. The mosquito-borne virus has spread rapidly in the last ten years, causing over three million cases of CHIKV worldwide (Powers, 2015). The recent outbreak initiated in Africa and the islands of the Indian Ocean in 2004 has quickly spread to Asia, Europe and the Americas (CDC, 2015). According to the CDC (2015), until 2014, cases in the United States had only been linked to foreign travel outside of the Americas. As the outbreak has grown, cases of local …

Identifying Acute Organ Dysfunction As A Marker Of Severe Sepsis, Daniell Mcsweeney

Nursing Student Class Projects (Formerly MSN)

The current definition of sepsis is suspected or documented infection plus at least one systemic manifestation of infection. Severe sepsis has been defined as sepsis plus evidence of organ dysfunction. Identifying acute organ dysfunction is a marker of severe sepsis. This topic was chosen after witnessing a number a patients fall into septic shock before severe sepsis was diagnosed and treatment initiated. Diagnosis of severe sepsis is important for specific protocol to be implemented in a timely fashion. The current differentiation between sepsis and severe sepsis is evidence of organ dysfunction. There are many examples of organ dysfunction that are …

Raising Awareness: Polycystic Kidney Disease, Dana Dendinger

Nursing Student Class Projects (Formerly MSN)

A young male patient was recently admitted to the intensive care unit at a local hospital with hypertensive urgency and acute renal failure of unknown etiology. A renal ultrasound showed polycystic kidneys and upon further investigation, it was discovered that the patient’s mother passed away last year from end stage renal failure related to polycystic kidney disease (PKD). The aforementioned case and the recent study into inherited disorders are what prompted further investigation into PKD. Liebau and Serra (2013) explain that “inherited cystic kidney diseases, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), are the …

Juvenile Myoclonic Epilepsy, April Britton

Nursing Student Class Projects (Formerly MSN)

Juvenile myoclonic epilepsy (JME) is one of the most common epilepsies of childhood (Korff, Nordli, & Eichler, 2014). JME typically occurs in otherwise healthy teenagers, and is characterized by one or more of the following seizure types: myoclonic jerks, generalized tonic clonic seizures, and absence seizures (Korff, Nordli, & Eichler, 2014). JME is thought to have genetically mediated factors (Park, Shahid, & Jammoul, 2015). JME is considered to be gender equal (Korff, Nordli, & Eichler, 2014). Most JME patients are diagnosed between 12 and 18 years of age (Korff, Nordli, & Eichler, 2014). Triggers linked to onset of seizure activity …

Thrombotic Thrombocytopenia Purpura, Ann Oliva

Nursing Student Class Projects (Formerly MSN)

Patients with Thrombotic Thrombocytopenia Purpura, or TTP, are often times seen in the emergency department and subsequently admitted to the inpatient or the critical care unit. The problems that TTP patients can present with vary greatly and astute nursing assessment plus knowledge of the pathophysiology behind the diagnosis is vital to deliver excellent nursing care. Thrombotic Thrombocytopenia Purpura or TTP is a rare but potentially fatal condition that occurs as result of decreased levels of ADAMTS-13, a cleaving protease for von Willebrand factor (vWF), which causes platelet aggregation and microvascular thrombi and subsequent end-organ damage, along with thrombocytopenia, hemolytic anemia, …