Medicine and Health Sciences Commons^™

Emergency Department Visits Caused By Adverse Drug Reactions: Results Of Aturkish University Hospital, Mehmet Can Gi̇rgi̇n, Sedat Yanturali, Mualla Ayli̇n Arici, Neşe Çolak Oray, Özgür Doylan, Yücel Demi̇ral, Yeşi̇m Tunçok

Turkish Journal of Medical Sciences

Background/aim: We aimed to evaluate adverse drug reaction (ADR)-related emergency department (ED) visits in the ED of the Dokuz Eylül University Hospital prospectively. Materials and methods: Patients who were admitted to the ED during 1-week periods of four different seasons between July 2010 and April 2011 were enrolled. Demographics of patients, previous ADR history, clinical progress, and outcomes were recorded. Causality assessment was done according to World Health Organization Uppsala Monitoring Centre categories. ADRs were categorized as certain, probable, or possible. Results: Patients who were on medications (26.5%, n = 1838) were evaluated for ADR-related ED admissions. ADRs accounted for …

Mefv Mutations In Iranian Azari Turkish Patients With Henoch?Schönlein Purpura, Mortaza Bonyadi, Mahdieh Younesi, Mandana Rafeey, Mahnaz Sadeghi_Shabestari, Fakhrossadat Mortazavi

Turkish Journal of Medical Sciences

Background/aim: The aim of the current study was to screen the rate of MEFV mutations in Henoch?Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. Materials and methods: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing. Results: Out of the …

Causes Of Open Fractures: Orthopaedic Injuries Related To Home-Made Agricultural Vehicles In The Eastern Black Sea Region Of Turkey, Ferhat Say, Hüseyi̇n Si̇na Coşkun, Murat Erdoğan, Ahmet Murat Bülbül, Deni̇z Gürler

Turkish Journal of Medical Sciences

Background/aim: Small vehicles known locally as pat-pats, which are used in agricultural work, are forbidden in traffic. The inherent instability of the vehicle may result in accidents, both on farmland and in traffic. The aim of this study was to evaluate orthopaedic injuries related to pat-pats. Materials and methods: Patients hospitalised for pat-pat accidents in two central hospitals in Samsun between December 2006 and October 2013 were scanned using ICD codes. A total of 46 patients with orthopaedic injuries (43 male, 3 female) with a mean age of 36 ± 13.3 years were evaluated. Results: The most injured age group …

The Relationship Between Blood Urea Nitrogen Levels And Metabolic, Biochemical, And Histopathologic Findings Of Nondiabetic, Nonhypertensive Patients With Nonalcoholic Fatty Liver Disease, Cemal Nuri̇ Erçi̇n, Teoman Doğru, Gürkan Çelebi̇, Hasan Gürel, Hali̇l Genç, Erdi̇m Sertoğlu, Sai̇t Bağci

Turkish Journal of Medical Sciences

Background/aim: Nonalcoholic fatty liver disease (NAFLD) is known as the most common cause of chronic liver disease. It is accepted that the leading cause of death in patients with NAFLD is from coronary events. Blood urea nitrogen (BUN) was used as a prognostic indicator for cardiovascular disease. We aimed to investigate the relationship between BUN levels and metabolic, biochemical, and histopathologic findings of nondiabetic patients with NAFLD. Materials and methods: A total of 195 male patients with biopsy proven NAFLD and 82 healthy controls with normal liver and renal function tests and normal abdominal ultrasonography were enrolled in the study. …

Varicocele: Tissue Stress In The Etiology, Ferhat Cüce, Özay Demi̇ray, Uğur Küçük, Hi̇lal Olgun Küçük

Turkish Journal of Medical Sciences

Background/aim: It is accepted that red blood cell distribution width (RDW) is a novel prognostic marker that reflects oxidative stress and chronic inflammation. In this study, we aimed to investigate the correlation between RDW and varicocele, the etiology of which has not fully elucidated yet. This study also aimed to study the mean platelet volume (MPV) values of the patient and control group. Materials and methods: RDW and MPV levels were measured in 50 varicocele subjects (group 1) and 48 healthy controls (group 2) from January 2012 to January 2014, retrospectively. Results: MPV levels were significantly higher in group 1 …

Temporal Trends Of Corporate Sponsorship In Medical Research, Elijah Bodey

Honors Projects

Data will be collected from medical journals to assessed changes in the nature and prevalence of corporate sponsorship. The journals that will be reviewed are the Journal of the American Medical Association (JAMA), the New England Journal of Medicine (NEJM), the British Medical Journal (BMJ), and the Lancet. These journals were chosen because of their high impact on medical research representing both American and British Medical editorials. It has been shown that corporate sponsorship has been associated with bias results (Kjaergard et al 2002). Changes in the nature of corporate sponsorship would be linked to changes in economic climate and …

Renal And Cardiovascular Morbidities Associated With Apol1 Status Among African-American And Non-African-American Children With Focal Segmental Glomerulosclerosis., Robert P. Woroniecki, Derek K. Ng, Sophie Limou, Cheryl A. Winkler, Kimberly J. Reidy, Mark Mitsnefes, Matthew G. Sampson, Craig S. Wong, Bradley A. Warady, Susan L. Furth, Jeffrey B. Kopp, Frederick J. Kaskel

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: African-American (AA) children with focal segmental glomerulosclerosis (FSGS) have later onset disease that progresses more rapidly than in non-AA children. It is unclear how APOL1 genotypes contribute to kidney disease risk, progression, and cardiovascular morbidity in children.

DESIGN SETTING PARTICIPANTS AND MEASUREMENTS: We examined the prevalence of APOL1 genotypes and associated cardiovascular phenotypes among children with FSGS in the Chronic Kidney Disease in Children (CKiD) study; an ongoing multicenter prospective cohort study of children aged 1-16 years with mild to moderate kidney disease.

RESULTS: A total of 140 AA children in the CKiD study were genotyped. High …

The Challenge Of Analyzing The Results Of Next-Generation Sequencing In Children., Isabelle Thiffault, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.

Proceedings Of The Working Group Session On Fertility Preservation For Individuals With Gender And Sex Diversity., Courtney Finlayson, Emilie K. Johnson, Diane Chen, Elizabeth Dabrowski, Yasmin Gosiengfiao, Lisa Campo-Engelstein, Ilina Rosoklija, Jill Jacobson, Margarett Shnorhavorian, Mary Ellen Pavone, Molly B. Moravek, Herbert J. Bonifacio, Lisa Simons, Janella Hudson, Patricia Y. Fechner, Veronica Gomez-Lobo, Rachel Kadakia, Angela Shurba, Erin Rowell, Teresa K. Woodruff

Manuscripts, Articles, Book Chapters and Other Papers

Children and adolescents with gender and sex diversity include (1) gender-nonconforming and transgender individuals for whom gender identity or expression are incongruent with birth-assigned sex (heretofore, transgender) and (2) individuals who have differences in sex development (DSD). Although these are largely disparate groups, there is overlap in the medical expertise necessary to care for individuals with both gender and sex diversity. In addition, both groups face potential infertility or sterility as a result of desired medical and surgical therapies. The Ann & Robert H. Lurie Children's Hospital of Chicago (Lurie Children's) gender and sex development program (GSDP) provides specialized multidisciplinary …

Inhibition Of Bacterial Growth And Prevention Of Bacterial Adhesion With Localized Nitric Oxide Delivery, Julia Osborne

Dissertations, Master's Theses and Master's Reports

Bacterial infections continue to be a problem at the site of an indwelling medical device, and over the years, various bacterial strains have become more resistant to current antibiotic treatments. Bacterial infection at an indwelling medical device can be dangerous and affect the performance of the medical device which can ultimately lead to the failure of the device due to bacterial resistance to treatment.

Nitric Oxide (NO) has been shown to possess antibacterial properties to prevent and inhibit bacterial growth. NO releasing coatings on indwelling medical devices could provide a reduction in bacterial infections that occur at the device site …

Molecular Mechanisms Of Suberoylanilide Hydroxamic Acid In The Inhibition Of Tgf-Β1-Mediated Canine Corneal Fibrosis, Kristina M. Gronkiewicz, Elizabeth A. Giuliano, Ajay Sharma, Rajiv R. Mohan

Pharmacy Faculty Articles and Research

Objective—To investigate molecular mechanisms mediating anti-fibrotic effect of SAHA in the canine cornea using an in vitro model. We hypothesized that SAHA attenuates corneal fibrosis by modulating Smad-dependent and, to a lesser extent, Smad-independent signaling pathways activated by TGF-β1, as well as matrix metalloproteinase (MMP) activity.

Methods—Cultured canine corneal fibroblasts (CCF) were incubated in the presence/absence of TGF-β1 (5ng/ml) and SAHA (2.5μM) for 24hrs. Western blot analysis was used to quantify non-phosphorylated and phosphorylated isoforms of Smad2/3, p38 MAP kinase (MAPK), ERK1/2 and JNK1. Real-time PCR and zymography were utilized to quantify MMP1, MMP2, MMP8 and MMP9 mRNA expression and …

Incidence And Factors Associated With Nonalcoholic Fatty Liver Disease Among Patients With Rheumatoid Arthritis, Ani K. John

Walden Dissertations and Doctoral Studies

Nonalcoholic fatty liver disease (NAFLD) has become one of the most common hepatic diseases worldwide, making the diagnosis and management of NAFLD an emerging public health issue. Theories associated with NAFLD surmise that inflammation may be the root cause, along with the complex interplay of other chronic conditions such as obesity, metabolic syndrome, diabetes, dyslipidemia, and cardiovascular disease (CVD). It is unknown if other inflammatory conditions such as rheumatoid arthritis (RA), along with the use of methotrexate (MTX), might confer increased risk for NAFLD. Longitudinal data collected from a retrospective cohort of 17,481 adult RA patients in the United States …

Medical Community Distrust And The Influenza Vaccination Rates Of Black Americans, Kenyatte Irby Winston

Walden Dissertations and Doctoral Studies

Black Americans experience influenza vaccination rates that are lower than the rates of other ethnic groups. Low influenza vaccination rates among the Black community are associated with higher influenza infection rates, influenza-related hospitalizations, and higher influenza mortality rates. There is a belief within the Black American community that the medical establishment does not have the Black American patient in its best interest, leading to feelings of distrust. The purpose of this study was to determine if the distrust of the medical community is a relevant factor in the low influenza vaccination rates of Black Americans aged 18 and older in …

The Association Of Cancer Development In Patients With Systemic Lupus Erythematosus, Rose Michelle Coley

Walden Dissertations and Doctoral Studies

The Association of Cancer Development in Patients with Systemic Lupus Erythematosus by

Rose Michelle Coley

MPH, Walden University, 2011

BS, University of Mount Olive, 2008

Dissertation Submitted in Partial Fulfillment

of the Requirements for the Degree of

Doctor of Philosophy

Public Health

Walden University

March 2016

Both cancer and autoimmune diseases have been associated with numerous factors that may independently lead to the development of either disease. When these factors overlap the difficulty in assessing association is compounded. The numerous factors that are thought to cause systemic lupus erythematosus (SLE), which leads to the development of cancer, makes the study …

Consequences Of Estrogen Receptor Beta Phosphorylation In The Aged Female Brain And Heart, Elena Pinceti

Dissertations

Female life expectancy in the United States has steadily increased and now averages 81 years. Meanwhile, the age at which women reach menopause remains constant at 51 years. Both neurological and cardiovascular disorders increase following menopause, affecting women’s quality of life and leading to large health care costs. Estrogens are neuroprotective and cardioprotective for women, however when administered long after menopause, they fail to improve their health.

The effects of estrogen are mediated by Estrogen Receptor α (ERα) and Estrogen Receptor β (ERβ). Evidence supports that ERβ plays an important role in neuroprotection and cardioprotection, but aspects of ERβ molecular …

การพัฒนาการเตรียมตัวอย่างแบบง่ายสำหรับการตรวจวิเคราะห์สายพันธุ์และการกลายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมาโดยวิธี High-Throughput Sequencing, อุกฤษฏ์ ทองภูมิ

Chulalongkorn University Theses and Dissertations (Chula ETD)

มะเร็งปากมดลูกมีสาเหตุหลักมาจากการติดเชื้อไวรัสฮิวแมนปาปิลโลมาในกลุ่ม high risk genotype แต่สามารถพบการติดเชื้อในกลุ่ม low risk genotype ในผู้ป่วยมะเร็งปากมดลูกด้วย ซึ่งเทคนิคที่ใช้ในปัจจุบันไม่สามารถตรวจพบได้ ในขณะที่เทคโนโลยีที่มีประสิทธิภาพสูงอย่าง high-throughput sequencing สามารถตรวจพบสายพันธุ์ของไวรัสได้คลอบคลุมมากกว่าแต่มีข้อเสียในเรื่องค่าใช้จ่ายในการเตรียมตัวอย่างนั้นค่อนข้างสูง งานวิจัยนี้จึงมีวัตถุประสงค์เพื่อพัฒนาการเตรียมตัวอย่างสำหรับการตรวจวิเคราะห์สายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมาโดยเทคนิค high throughput sequencing ที่ง่ายและใช้ต้นทุนต่ำกว่าการเตรียมตัวอย่างแบบเดิมรวมถึงเพื่อตรวจหาการกลายพันธุ์บนยีน L1 โดยใช้เทคนิคการเตรียมตัวอย่างที่พัฒนาขึ้น ในการศึกษาสายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมานั้นจะใช้ความแตกต่างบนยีน L1 ในการจำแนกสายพันธุ์ ซึ่งงานวิจัยชิ้นนี้ได้ปรับแต่ง primer MY09/11 ให้มีโครงสร้างของ sequencing primer, index และ adapter ที่จำเป็นสำหรับการศึกษาด้วยเทคนิค high-throughput sequencing ผลการศึกษาพบว่าเทคนิคการเตรียมตัวอย่างที่พัฒนาขึ้นนั้นมีความสามารถในการตรวจพบสายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมาได้ทั้งสองกลุ่มโดยปริมาณสารพันธุกรรมน้อยที่สุดที่เทคนิคนี้สามารถตรวจพบคือ 100 copies/µl มีความไวเท่ากับ 100% และความจำเพาะเท่ากับ 87.23% โดยสายพันธุ์ของเชื้อไวรัสส่วนใหญ่ที่พบในทุกระยะคือสายพันธุ์ 16 ซึ่งเป็นสายพันธุ์ที่มีอุบัติการณ์สูงในประเทศไทย นอกจากนี้สามารถตรวจพบการกลายพันธุ์บนยีน L1 ซึ่งทำให้เกิดการเปลี่ยนแปลงของกรดอะมิโนขึ้นและอาจส่งผลให้เชื้อไวรัสสามารถหลบเลี่ยงระบบภูมิคุ้มกันได้ โดยสรุปเทคนิคการเตรียมตัวอย่างที่พัฒนาขึ้นนี้นอกจากจะมีความสามารถในการตรวจพบสายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมาทุกสายพันธุ์และตรวจพบการกลายพันธุ์บนยีน L1 แล้วยังช่วยลดค่าใช้จ่ายในการเตรียมตัวอย่างสำหรับการตรวจหาสายพันธุ์ของเชื้อไวรัสฮิวแมนปาปิลโลมาลงได้อีกด้วย

The Effects Of External Focus Of Attention Exercise Rehabilitation On Dual Task Walking In Parkinson's Disease, Eric N. Beck

Theses and Dissertations (Comprehensive)

Parkinson’s disease impairs control of well-learned movements, and therefore, individuals with Parkinson’s disease are forced to walk with greater conscious control. This causes difficulties while walking and completing a secondary task simultaneously (dual tasking), in that distractions from conscious control of walking increase the risk of falls and injury. Although, attention-based exercise may be a potential avenue to decrease the demands associated with walking in Parkinson’s disease. For example, an external focus of attention (on manipulated objects) has been found to recruit the networks that are important for walking with little conscious control (automatic control networks). In contrast, an internal …

Low-Dose Aronia Melanocarpa Concentrate Attenuates Paraquat-Induced Neurotoxicity, Adam J. Case, Daniel Agraz, Iman M. Ahmad, Matthew C. Zimmerman

Journal Articles: Cellular & Integrative Physiology

No abstract provided.

Angiotensin Ii-Induced Hypertension Is Attenuated By Overexpressing Copper/Zinc Superoxide Dismutase In The Brain Organum Vasculosum Of The Lamina Terminalis., John P. Collister, Heather Taylor-Smith, Donna Drebes, David Nahey, Jun Tian, Matthew C. Zimmerman

Journal Articles: Cellular & Integrative Physiology

Angiotensin II (AngII) can access the brain via circumventricular organs (CVOs), including the subfornical organ (SFO) and organum vasculosum of the lamina terminalis (OVLT), to modulate blood pressure. Previous studies have demonstrated a role for both the SFO and OVLT in the hypertensive response to chronic AngII, yet it is unclear which intracellular signaling pathways are involved in this response. Overexpression of copper/zinc superoxide dismutase (CuZnSOD) in the SFO has been shown to attenuate the chronic hypertensive effects of AngII. Presently, we tested the hypothesis that elevated levels of superoxide (O2 (∙-)) in the OVLT contribute to the hypertensive effects …

Angiotensin Ii-Induced Hypertension Is Attenuated By Overexpressing Copper/Zinc Superoxide Dismutase In The Brain Organum Vasculosum Of The Lamina Terminalis., John P. Collister, Heather Taylor-Smith, Donna Drebes, David Nahey, Jun Tian, Matthew C. Zimmerman

Journal Articles: Cellular & Integrative Physiology

Angiotensin II (AngII) can access the brain via circumventricular organs (CVOs), including the subfornical organ (SFO) and organum vasculosum of the lamina terminalis (OVLT), to modulate blood pressure. Previous studies have demonstrated a role for both the SFO and OVLT in the hypertensive response to chronic AngII, yet it is unclear which intracellular signaling pathways are involved in this response. Overexpression of copper/zinc superoxide dismutase (CuZnSOD) in the SFO has been shown to attenuate the chronic hypertensive effects of AngII. Presently, we tested the hypothesis that elevated levels of superoxide (O2 (∙-)) in the OVLT contribute to the hypertensive effects …

Low-Dose Aronia Melanocarpa Concentrate Attenuates Paraquat-Induced Neurotoxicity., Adam J. Case, D Agraz, Iman M. Ahmad, Matthew C. Zimmerman

Journal Articles: Cellular & Integrative Physiology

Herbicides containing paraquat may contribute to the pathogenesis of neurodegenerative disorders such as Parkinson's disease. Paraquat induces reactive oxygen species-mediated apoptosis in neurons, which is a primary mechanism behind its toxicity. We sought to test the effectiveness of a commercially available polyphenol-rich Aronia melanocarpa (aronia berry) concentrate in the amelioration of paraquat-induced neurotoxicity. Considering the abundance of antioxidants in aronia berries, we hypothesized that aronia berry concentrate attenuates the paraquat-induced increase in reactive oxygen species and protects against paraquat-mediated neuronal cell death. Using a neuronal cell culture model, we observed that low doses of aronia berry concentrate protected against paraquat-mediated …

A Requirement For Y841 In Jak3 Enzymatic Activity And Hematopoietic Cancers, George Steven Martinez

Open Access Theses & Dissertations

A medical need exists for successfully treating people afflicted with leukemia, especially those who develop drug resistant forms. Relapse leukemia cases are particularly high within Hispanic populations where this disease is among the most frequently occurring cancer. Fourteen somatic mutations have been reported in Janus tyrosine kinase 3 (Jak3), including M511I and A573V, from patients with various forms of leukemia. To monitor drug sensitivity, a model system was developed. Indeed, many of these mutations have been shown to possess transforming ability in cell lines such as the IL-3 dependent pro-B cell line Ba/F3. As such, Ba/F3 cells were transformed to …

Determining The Role Of Poly [Adp-Ribose] Polymerase 1 (Parp-1) In Retroviral Infection, Luis Valdes Rodriguez

Open Access Theses & Dissertations

Possible links between PARP-1 and HIV-1 have been previously reported but the role of this protein during viral infection has remained elusive. Based on the high evolutionary conservation of PARP-1, from Drosophila to humans, we have been able to counteract the difficulties related with the functional redundancy manifested in the PARP family by studying the influence of PARP-1 on the expression of an endogenous retrovirus using the chicken B lymphoblastoid cell line DT40, this cell line exhibits low PARP-1 functional redundancy and is viable after PARP-1 knockout. We have determined that the transcription level of the endogenous retrovirus RAV-1 is …

Book Review Of Cure, David Yells

Journal of Social, Behavioral, and Health Sciences

In Cure: A Journey Into The Science of Mind Over Body, Dr. Jo Marchant explores the world of complementary and alternative medicine. The context for her exploration is the limitations of standard, Western medicine. In some cases, traditional Western medicine has been unable to provide reliably effective treatment for medical conditions. In other cases, the treatment may result in intolerable side effects. Marchant addresses approaches such as hypnotherapy, virtual reality, and even the power of belief (as reflected in the placebo effect) in the treatment of such disparate conditions as Parkinson’s disease, Irritable Bowel Syndrome, and Fibromyalgia. She combines …

Activation Of Signal Transduction Pathways During Hepatic Oncogenesis, W Chung, M Kim, S De La Monte, L Longato, R Carlson, B L. Slagle, X Dong, J R. Wands

Faculty, Staff and Students Publications

BACKGROUND AND AIMS: Understanding the molecular pathogenesis of hepatocellular carcinoma (HCC) is essential to identify therapeutic targets. A hepatitis B virus (HBV) related double transgenic murine model was developed. METHODS: Liver specific expression of HBV X protein (HBx) and insulin receptor substrate 1 (IRS1) was achieved and transgenic mice were followed from birth to age 21 months. Liver and tumor tissue were assessed for histologic changes as well as activation of signal transduction pathways by qRT-PCR and multiplex ELISA protein assays. RESULTS: Overexpression of HBx and IRS1 stimulates liver cell proliferation in the double transgenic mice. Only the male mice …

Effect Of Two-Year Caloric Restriction On Bone Metabolism And Bone Mineral Density In Non-Obese Younger Adults: A Randomized Clinical Trial, Dt Villareal, L Fontana, Sk Das, Et Al.

Faculty, Staff and Students Publications

Although caloric restriction (CR) could delay biologic aging in humans, it is unclear if this would occur at the cost of significant bone loss. We evaluated the effect of prolonged CR on bone metabolism and bone mineral density (BMD) in healthy younger adults. Two-hundred eighteen non-obese (body mass index [BMI] 25.1?±?1.7?kg/m(2) ), younger (age 37.9?±?7.2 years) adults were randomly assigned to 25% CR (CR group, n?=?143) or ad libitum (AL group, n?=?75) for 2 years. Main outcomes were BMD and markers of bone turnover. Other outcomes included body composition, bone-active hormones, nutrient intake, and physical activity. Body weight (-7.5?±?0.4 versus …

Identification Of A Novel Gene On 10q221 Causing Autosomal Dominant Retinitis Pigmentosa (Adrp), Stephen P Daiger, Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, Susan H Blanton, Dianna K Wheaton, Cheryl E Avery, Elizabeth D Cadena, Robert K Koenekoop, Robert S Fulton, Richard K Wilson, George M Weinstock, Richard A Lewis, David G Birch

Faculty, Staff and Students Publications

Whole-genome linkage mapping identified a region on chromosome 10q21.3-q22.1 with a maximum LOD score of 3.0 at 0 % recombination in a six-generation family with autosomal dominant retinitis pigmentosa (adRP). All known adRP genes and X-linked RP genes were excluded in the family by a combination of methods. Whole-exome next-generation sequencing revealed a missense mutation in hexokinase 1, HK1 c.2539G > A, p.Glu847Lys, tracking with disease in all affected family members. One severely-affected male is homozygous for this region by linkage analysis and has two copies of the mutation. No other potential mutations were detected in the linkage region nor were …

Local Corticotropin Releasing Hormone (Crh) Signals To Its Receptor Crhr1 During Postnatal Development Of The Mouse Olfactory Bulb, Isabella Garcia, Paramjit K Bhullar, Burak Tepe, Joshua Ortiz-Guzman, Longwen Huang, Alexander M Herman, Lesley Chaboub, Benjamin Deneen, Nicholas J Justice, Benjamin R Arenkiel

Faculty, Staff and Students Publications

Neuropeptides play important physiological functions during distinct behaviors such as arousal, learning, memory, and reproduction. However, the role of local, extrahypothalamic neuropeptide signaling in shaping synapse formation and neuronal plasticity in the brain is not well understood. Here, we characterize the spatiotemporal expression profile of the neuropeptide corticotropin-releasing hormone (CRH) and its receptor CRHR1 in the mouse OB throughout development. We found that CRH-expressing interneurons are present in the external plexiform layer, that its cognate receptor is expressed by granule cells, and show that both CRH and CRHR1 expression enriches in the postnatal period when olfaction becomes important towards olfactory-related …

Mitochondrial Function Assessed By 31p Mrs And Bold Mri In Non-Obese Type 2 Diabetic Rats, Yuchi Liu, Xunbai Mei, Jielei Li, Nicola Lai, Xin Yu

Electrical & Computer Engineering Faculty Publications

The study aims to characterize age-associated changes in skeletal muscle bioenergetics by evaluating the response to ischemia-reperfusion in the skeletal muscle of the Goto-Kakizaki (GK) rats, a rat model of non-obese type 2 diabetes (T2D). ³¹P magnetic resonance spectroscopy (MRS) and blood oxygen level-dependent (BOLD) MRI was performed on the hindlimb of young (12 weeks) and adult (20 weeks) GK and Wistar (control) rats. ³¹P-MRS and BOLD-MRI data were acquired continuously during an ischemia and reperfusion protocol to quantify changes in phosphate metabolites and muscle oxygenation. The time constant of phosphocreatine recovery, an index of mitochondrial oxidative capacity, …

Development Of A Novel In Vivo Corneal Fibrosis Model In The Dog, K. M. Gronkiewicz, Elizabeth A. Giuliano, K. Kuroki, F. Bunyak, Ajay Sharma, L. B. C. Teixeira, C. W. Hamm, R. R. Mohan

Pharmacy Faculty Articles and Research

The aim of this study was to develop a novel in vivo corneal model of fibrosis in dogs utilizing alkali burn and determine the ability of suberanilohydroxamic acid (SAHA) to inhibit corneal fibrosis using this large animal model. To accomplish this, we used seven research Beagle dogs. An axial corneal alkali burn in dogs was created using 1 N NaOH topically. Six dogs were randomly and equally assigned into 2 groups: A) vehicle (DMSO, 2 μL/mL); B) anti-fibrotic treatment (50 μM SAHA). The degree of corneal opacity, ocular health, and anti-fibrotic effects of SAHA were determined utilizing the Fantes grading …