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Articles 1 - 30 of 44
Full-Text Articles in Diseases
When Curiosity Kills More Than The Cat: The Perils Of Unchecked Scientific Inquiry, Jamie Shannon
When Curiosity Kills More Than The Cat: The Perils Of Unchecked Scientific Inquiry, Jamie Shannon
Pomona Senior Theses
This work analyzes the ecological, physical, emotional and health impacts of the US nuclear testing done in the Marshall Islands in the mid-20th century.
Diagnosis And Management Of Horses With Equine Metabolic Syndrome (Ems), Kelly Ann Chameroy
Diagnosis And Management Of Horses With Equine Metabolic Syndrome (Ems), Kelly Ann Chameroy
Doctoral Dissertations
In horses, a painful and often debilitating disease known as laminitis can result in impaired function and, in severe cases, euthanasia. Equine Metabolic Syndrome (EMS) is a syndrome in horses that results in development of laminitis and is characterized by the presence of general and/or regional adiposity (“cresty neck”), aberrations in blood lipid concentrations, insulin resistance (IR) and/ or hyperinsulinemia. Therapies have focused on improving the state of obesity and insulin resistance with the goal of diminishing the likelihood of laminitis development. A definitive cause for laminitis has not been established, but hyperinsulinemia and IR are likely candidates as experimental …
The Mglur2/3 Agonist Ly397268 Improves Morphometric And Behavioral Outcomes In R6/2 Huntington's Disease Mice, Dennis Craig Lafferty
The Mglur2/3 Agonist Ly397268 Improves Morphometric And Behavioral Outcomes In R6/2 Huntington's Disease Mice, Dennis Craig Lafferty
Theses and Dissertations (ETD)
A prominent theory for the pathology of Huntington's Disease (HD) is the excitotoxic injury to the striatum. Continual exposure of ionotropic NMDA receptors to glutamate from the cortex can be excitotoxic in HD and leave striatal neurons vulnerable to damage. Activation of presynaptic mGluR2/3 by an agonist dampens glutamate release from corticostriatal terminals. Treatments that target excitoxicity and oxidative stress thus may improve some of the symptoms in HD patients and it is therefore logical to pursue therapies aimed in this direction. LY379268 is an inviting mGluR2/3 agonist that has been shown to be neuroprotective in hypoxic and ischemic injuries …
Development Of Novel Biomarkers In Cancer: Detection Of Circulating Mir-141 As A Potential Prognostic Marker For Prostate Cancer, Jason Cadaoas Gonzales
Development Of Novel Biomarkers In Cancer: Detection Of Circulating Mir-141 As A Potential Prognostic Marker For Prostate Cancer, Jason Cadaoas Gonzales
UNLV Theses, Dissertations, Professional Papers, and Capstones
Prostate cancer (CAP) is the most common epithelial malignancy and the second leading cause of cancer deaths in American men. The identification of predictive and prognostic biomarkers in CAP patients is critical for improving clinical outcomes. Although the measurement of prostate-specific antigen (PSA) and radiographic studies are clinically approved to predict response to therapy, these tests can oftentimes prove to be inadequate in certain patients. Thus, it is important to discover new biomarkers to improve chances of survivability. We and others have shown that longitudinal measurements of circulating tumor cells (CTC) and lactate dehydrogenase (LDH) may aid in predicting response …
Coping Style And Blood Pressure In African Americans: The Jackson Heart Study, Sandra Henley Williams
Coping Style And Blood Pressure In African Americans: The Jackson Heart Study, Sandra Henley Williams
Theses and Dissertations (ETD)
Objective: To explore the relationship between coping style and blood pressure in African American men and women.
Participants: This descriptive correlational study consisted of 4354 adult men (n = 1557) and women (n = 2797) enrolled in the Jackson Heart Study (JHS) who completed the Coping Strategies Short-Form (CSI-SF).
Results: Coping style mean score comparisons showed that JHS participants used engagement coping styles more than disengagement coping styles. The PFE subscale had the highest mean score (15.10 ± 2.63) with 75% of the PFE scores under 17.00 and 75% of EFE scores were below 15.00. Comparatively, 75% of PFD scores …
Interactions Of Francisella Tularensis With Components Of The Host Fibrinolytic System, Shawn Russell Clinton
Interactions Of Francisella Tularensis With Components Of The Host Fibrinolytic System, Shawn Russell Clinton
Theses and Dissertations (ETD)
Francisella tularensis (FT) is a Gram-negative coccobacillus and causative agent of a life-threatening disease commonly referred to as tularemia. Due to the highly infectious nature of the organism, its previous development as a biowarfare agent and its potential use in acts of bioterrorism, this bacterium is listed as a Category A select agent by the Centers for Disease Control and Prevention (CDC). Efforts to understand the pathogenic mechanisms of FT within the host environment are vital for the development of safe and effective vaccines, as well as treatments, against tularemia. Though considered an intracellular pathogen, FT research of late has …
Energy Webs And Nursing Praxis: Patterning In The Lived Experience Of Type 2 Diabetes, Karen Marcus Glasenapp
Energy Webs And Nursing Praxis: Patterning In The Lived Experience Of Type 2 Diabetes, Karen Marcus Glasenapp
Doctor of Nursing Practice Projects
Diabetes is an illness best described as costly, complex, chronic, and epidemic in the United States, affecting nearly 24 million children and adults; 90% of who have type 2 diabetes (Centers for Disease Control and Prevention, 2008). On average, every 20 seconds in the United States, an individual 20 years of age and older receives a diagnosis of diabetes; yet, an estimated 6 million people with the disease remain undiagnosed (American Diabetes Association, 2010b). The financial burden of this disease, the inconsistent effectiveness of well-intentioned diabetes programs to educate and actualize change behavior, and the limited resources of millions of …
Coronary Heart Disease Mortality And Long-Term Exposure To Ambient Particulate Air Pollutants In Elderly Nonsmoking California Residents, Lie Hong Chen
Loma Linda University Electronic Theses, Dissertations & Projects
The purpose of this study is to assess the effect of long-term concentrations of ambient PM on risks of all causes, cardiopulmonary, coronary heart disease (CHD), total cancer, and any mention of nonmalignant respiratory disease (NMRD) mortality.
The health effects of long-term ambient air pollution have been studied with up to 30 years of follow-up in the AHSMOG cohort, a cohort of 6,338 nonsmoking white California adults. Monthly concentrations of ambient air pollutants [particulate matter(PMio), Ozone (O3), sulfur dioxide (SO2), nitrogen dioxide (NO2) or particulate matter
In the AHSMOG cohort, each increment of 10 |ig/m3 in PMio in two-pollutant models …
Effects Of Acculturation On Hiv/Aids Sexual Risk Behaviors Among Asian And Pacific Islander (Api) Women, Margaret Cabotage Salud
Effects Of Acculturation On Hiv/Aids Sexual Risk Behaviors Among Asian And Pacific Islander (Api) Women, Margaret Cabotage Salud
Loma Linda University Electronic Theses, Dissertations & Projects
Background. In the US women are the fastest growing group for sexually transmitted infections (STIs), including HIV and AIDS. In addition, the estimated AIDS cases among female adults and adolescents, aged 13-19, increased from 7% in 1985 to approximately 26% in 2002. Most infections occur by heterosexual transmission with 53% occurring through contact with a high-risk sexual partner. While overall HIV/AIDS rates in the Asian Pacific Islander (API) community remain low, they are rising and HIV testing rates, one of the major prevention strategies for HIV, are lower than that of other populations. Furthermore, very little is known about APIs …
Cd151 Reinforces Vascular Stability By Balancing Endothelial Cell Adhesion And Cytoskeletal Tension, Feng Zhang
Cd151 Reinforces Vascular Stability By Balancing Endothelial Cell Adhesion And Cytoskeletal Tension, Feng Zhang
Theses and Dissertations (ETD)
Tetraspanin CD151 is highly expressed in endothelial cells and regulates pathological angiogenesis. However, the mechanism by which CD151 promotes vascular morphogenesis and whether CD151 engages other vascular functions are unclear. We observed that CD151 is required for the maintenance of endothelial capillary-like structures formed in vitro and the integrity of lung endothelial cell-cell contacts in vivo. As a master regulator of endothelial cell-matrix and cell-cell adhesions, CD151 is needed for the optimal functions of various cell adhesion proteins such as integrin, cadherin, and CD44. The loss of CD151 elevates the cellular intrinsic contraction by upregulating RhoA signaling and downregulating of …
Vertical Transmission Of West Nile Virus In Culex Spp. Mosquitoes Of Clark County, Nevada, Vivek K. Raman
Vertical Transmission Of West Nile Virus In Culex Spp. Mosquitoes Of Clark County, Nevada, Vivek K. Raman
UNLV Theses, Dissertations, Professional Papers, and Capstones
West Nile Virus (WNV) is an RNA arbovirus that cycles between mosquitoes and birds, but also infects and causes disease in humans, horses and other vertebrate species. Although most infections are asymptomatic, WNV has emerged as the most common cause of epidemic meningoencephalitis in North America and the leading cause of arboviral encephalitis in the United States.
Mosquitoes of the genus Culex are the most active vectors of WNV in North America. Approximately 85% of human WNV infections in the United States occur in late summer with a peak number of cases in August and September. Vertical transmission is defined …
Donepezil And Galanin Interactions In An Animal Model Of Alzheimer’S Disease, Jonathan J. Sabbagh
Donepezil And Galanin Interactions In An Animal Model Of Alzheimer’S Disease, Jonathan J. Sabbagh
UNLV Theses, Dissertations, Professional Papers, and Capstones
Alzheimer's disease (AD) is a neurodegenerative disorder marked by a progressive loss of cognitive function. One of the neurobiological hallmarks of AD is a progressive loss of cholinergic neurons and a decrease in the amount of acetylcholine in the brain. Pharmacological therapies have targeted the cholinergic system, specifically first-line, palliative treatment using acetylcholinesterase (AChE) inhibitors, such as donepezil. Donepezil has been shown to increase cholinergic tone and ameliorate some of the cognitive deficits in AD patients. Galanin, a neuropeptide that inhibits the evoked release of several neurotransmitters including acetylcholine as well as modulates seveal intracellular cascades, is overexpressed in AD …
Plasmacytoid Dendritic Cells Sense Skin Injury And Promote Wound Healing Through Type I Interferons, Josh D. Gregorio
Plasmacytoid Dendritic Cells Sense Skin Injury And Promote Wound Healing Through Type I Interferons, Josh D. Gregorio
Dissertations & Theses (Open Access)
Plasmacytoid dendritic cells (pDCs) are a rare population of circulating cells, which selectively express intracellular Toll-like receptors (TLR)-7 and TLR-9 and have the capacity to produce large amounts of type I IFNs (IFN-a/b) in response to viruses or host derived nucleic acid containing complexes. pDCs are normally absent in skin but accumulate in the skin of psoriasis patients where their chronic activation to produce IFN-a/b drives the disease formation. Whether pDCs and their activation to produce IFN-a/b play a functional role in healthy skin is unknown. Here we show that pDCs are rapidly and transiently recruited into healthy human and …
Preliminary Studies Into Dna Binding Capabilities Of Ruthenium Nitro Nitrosyl As Anti-Tumor Pro-Drugs, Natasha Hansson
Preliminary Studies Into Dna Binding Capabilities Of Ruthenium Nitro Nitrosyl As Anti-Tumor Pro-Drugs, Natasha Hansson
Seton Hall University Dissertations and Theses (ETDs)
The complex [Ru(bpy)z(NO)(N02)](PF6)2 was investigated as a potential anti tumor drug option. The nitrosyl group was displaced by reaction with azide ion in acetone to yield the solvento complex in situ. The products isolated from addition of a solution or slurry of guanine, adenine, cytosine or thiamine to the resulting [Ru(bpy)(N02)(acetone)t were investigated by electronic absorption spectroscopy, infra 1 red spectroscopy, H NMR spectroscopy and cyclic voltammetry. The results of the studies showed that guanine, adenine and thiamine form adducts with Ru(bpy)z(N02)(acetone)t. However, each base forms a unique complex as shown by electronic spectroscopy. Guanine is the strongest field ligand, …
Development Of A Lung Cancer-Specific Model For Support Group Interest, Laura Testerman
Development Of A Lung Cancer-Specific Model For Support Group Interest, Laura Testerman
Loma Linda University Electronic Theses, Dissertations & Projects
Despite high levels of both emotional and physical distress and desire for utilization of support group services, lung cancer patients rarely participate in these supportive services. Lung cancer survivors’ interest in and use of supportive psychosocial services remains poorly understood, and Internet-based services may be of particular benefit to this population. The Behavioral Model for Vulnerable Populations, which emphasizes Predisposing (i.e., demographic as well as attitudes about support services), Enabling (i.e., accessibility of services), and Illness (i.e., need for services based on health) factors, was applied to the prediction of survivors’ behavioral intention to participate in face-to-face support groups (F2F) …
Modeling Sporadic Tumor Formation Driven By Telomere Dysfunction In The Gastrointestinal Tract, Suzanne S. Chan
Modeling Sporadic Tumor Formation Driven By Telomere Dysfunction In The Gastrointestinal Tract, Suzanne S. Chan
Dissertations & Theses (Open Access)
Colorectal cancer is a complex disease that is thought to arise when cells accumulate mutations that allow for uncontrolled growth. There are several recognized mechanisms for generating such mutations in sporadic colon cancer; one of which is chromosomal instability (CIN). One hypothesized driver of CIN in cancer is the improper repair of dysfunctional telomeres. Telomeres comprise the linear ends of chromosomes and play a dual role in cancer. Its length is maintained by the ribonucleoprotein, telomerase, which is not a normally expressed in somatic cells and as cells divide, telomeres continuously shorten. Critically shortened telomeres are considered dysfunctional as they …
Immune Recognition Of Self Nucleic Acids Driven By Endogenous Antimicrobial Peptides: Role In Autoimmunity, Dipyaman Ganguly
Immune Recognition Of Self Nucleic Acids Driven By Endogenous Antimicrobial Peptides: Role In Autoimmunity, Dipyaman Ganguly
Dissertations & Theses (Open Access)
Innate immune recognition of extracellular host-derived self-DNA and self-RNA is prevented by endosomal seclusion of the Toll-like receptors (TLRs) in the dendritic cells (DCs). However, in psoriasis plasmacytoid dendritic cells have been found to be able to sense self-DNA molecules in complex with the endogenous cationic antimicrobial peptide LL37, which are internalized into the endosomal compartments and thus can access TLR9. We investigated whether this endogenous peptide can also interact with extracellular self-RNA and lead to DC activation. We found that LL37 binds self-RNA as well as self-DNA going into an electrostatic interaction; forms micro-aggregates of nano-scale particles protected from …
The Role Of Unrealistic Optimism In Explaining Preventive Behaviors In High Versus Low Endemic Malaria Settings In Belize, Daniel G. Handysides
The Role Of Unrealistic Optimism In Explaining Preventive Behaviors In High Versus Low Endemic Malaria Settings In Belize, Daniel G. Handysides
Loma Linda University Electronic Theses, Dissertations & Projects
Background: Of all the diseases an individual can encounter in the world, malaria is one of the most destructive. Simple measures like sleeping under a bednet would greatly reduce the burden (Abeku, 2007). When people estimate their risk relative to others, they are most often unrealistically optimistic, which may explain why those at risk often fail to perform behaviors, such as using a bednet that will reduce their risk. However, one study showed that people at high risk for malaria held pessimistic perceptions of their risk for the disease, but the reasons for this finding are unclear (Morrison, Ager, & …
The Relationship Between The Level Of Support Group Participation And Psychosocial Factors In Prostate Cancer Patients Treated With Proton Therapy, Carol A. L. Davis
The Relationship Between The Level Of Support Group Participation And Psychosocial Factors In Prostate Cancer Patients Treated With Proton Therapy, Carol A. L. Davis
Loma Linda University Electronic Theses, Dissertations & Projects
Background. The role of support groups for cancer patients is known to be beneficial in helping people adjust to the disease, and cope with the myriad of effects that cancer has on quality of life. Although many people express interest in attending such support groups, few attend regularly. It is unclear what characteristics distinguish those who use such services from those who do not, especially among proton therapy patients.
Objective. To examine demographic and psychosocial characteristics associated with the Brotherhood of the Balloon (BOB) prostate cancer support group membership, a unique treatment-focused group originating at Loma Linda University Medical Center …
Improving Quantitative Treatment Response Monitoring With Deformable Image Registration, Blake A. Cannon
Improving Quantitative Treatment Response Monitoring With Deformable Image Registration, Blake A. Cannon
Dissertations & Theses (Open Access)
Quantitative imaging with 18F-FDG PET/CT has the potential to provide an in vivo assessment of response to radiotherapy (RT). However, comparing tissue tracer uptake in longitudinal studies is often confounded by variations in patient setup and potential treatment induced gross anatomic changes. These variations make true response monitoring for the same anatomic volume a challenge, not only for tumors, but also for normal organs-at-risk (OAR). The central hypothesis of this study is that more accurate image registration will lead to improved quantitation of tissue response to RT with 18F-FDG PET/CT. Employing an in-house developed “demons” based deformable image registration algorithm, …
Localization And Binding Characteristics Of Kaposi's Sarcoma-Associated Herpesvirus Bcl-2 Protein In The Prevention Of Apoptosis, Erin T. St.Angelo
Localization And Binding Characteristics Of Kaposi's Sarcoma-Associated Herpesvirus Bcl-2 Protein In The Prevention Of Apoptosis, Erin T. St.Angelo
Seton Hall University Dissertations and Theses (ETDs)
Kaposi's sarcoma-associated herpesvirus (KSHV) is the causative agent of various diseases, and it encodes a Bcl-2 homolog, KS-Bcl-2. The Bcl-2 family is important in regulating cellular apoptosis. Pro-apoptotic Bcl-2 family members promote apoptosis through mitochondrial pore formation by Bak and Bax, or through BH3 only domain activators and sensitizers. Anti-apoptotic members, such as cellular Bcl-2 prevent apoptosis through interactions with pro-apoptotic proteins, for instance inhibiting pore formation by binding to Bak and/or Bax. Even though, KS-Bcl-2 has been shown to have an anti-apoptotic function like its homolog, it does not bind to either Bak or Bax, and little is known …
Small Molecule Inhibition Of Macrophage Tnf-A Release, Razwana Wahdat
Small Molecule Inhibition Of Macrophage Tnf-A Release, Razwana Wahdat
Seton Hall University Dissertations and Theses (ETDs)
Tumor Necrosis Factor Alpha (TNF-a) is a vital pro-inflammatory cytokine produced in response to the activation ofthe innate immune response via the Toll-like receptor signal transduction pathway. This thesis explores the release and inhibition of TNF-a from RAW 264.7 mouse macrophages and human U937 cells that have been exposed to a potent activator of innate immunity. Using lipopolysaccharide (LPS), a Gram negative bacterial endotoxin, in the presence or absence of proinflammatory cytokine interferon 'Y (IFN-y) as activators ofthe TLR-4 pathway, a robust release ofTNF a was observed. Co-incubation of stimulated macrophages with the tyrosine phosphatase inhibitor, sodium vanadate, resulted in …
Polyheart: Cardiovascular Disease Risk Assessment, Katherine Vaughan
Polyheart: Cardiovascular Disease Risk Assessment, Katherine Vaughan
Kinesiology and Public Health
Cardiovascular disease (CVD) is the leading cause of death in ‘Western Civilization.’ Lifestyle modification (ie regular exercise and healthy diet) greatly reduces the risk for CVD. It is unclear whether faculty at Cal Poly, who are exposed to positive benefits of lifestyle modification are at risk for CVD. The purpose of this study was to assess Cal Poly’s faculties’ cardiovascular health status, as specified by the American College of Sports Medicine’s (ACSM) seven cardiovascular disease risk factors. Both the researchers and participants benefit from this study because awareness of CVD risk factors may help prevent progression of risk factors and …
Fetal Programming By Nicotine Increases Cardiac Susceptibility To Ischemic Injury, Jennifer Charlotte Alexie Lawrence
Fetal Programming By Nicotine Increases Cardiac Susceptibility To Ischemic Injury, Jennifer Charlotte Alexie Lawrence
Loma Linda University Electronic Theses, Dissertations & Projects
Fetal programming is the area of study that focuses on the prenatal origins of adult onset disorders. Previous studies have associated an adverse prenatal environment with the onset of physiologic and metabolic diseases during adulthood. Fetal malnutrition, hypoxia, and exposure to drugs - such as cocaine and nicotine - have been associated with adult disease states. Cigarette smoking is the number one cause of preventable death in the developed world. Among the many dangerous chemicals found in tobacco products is nicotine, the compound responsible for the addictive nature of tobacco use. Nicotine use during pregnancy is a known cause of …
Evaluating The Impact Of The Guatemalan Nursing Program On Staff, Organizational, And Clinical Outcomes, Sara Williamson Day
Evaluating The Impact Of The Guatemalan Nursing Program On Staff, Organizational, And Clinical Outcomes, Sara Williamson Day
Theses and Dissertations (ETD)
There is great disparity between the outcome of childhood cancer in developed and developing countries. Nurses, who comprise the largest group of health care professionals globally, are essential to successful treatment. Pediatric oncology education is generally unavailable for nurses in developing countries. This lack of education is likely to contribute to the disparity in survival rates, as undereducated nurses are unable to meet the demands of pediatric cancer care. A second critical problem in developing countries is the workload of the nurse, with a patient nurse ratio reported as high as 30 patients per one nurse.
In 2006, the quality …
Transcriptional Regulation Of Azole Antifungal Resistance And Tolerance In Candida Glabrata, Kelly E. Caudle
Transcriptional Regulation Of Azole Antifungal Resistance And Tolerance In Candida Glabrata, Kelly E. Caudle
Theses and Dissertations (ETD)
Azole antifungal resistance has emerged as a significant problem in the management of infections caused by fungi including Candida species. In recent years, Candida glabrata has become the second most common cause of mucosal and invasive fungal infections in humans second to Candida albicans. Not only are systemic C. glabrata infections characterized by high mortality rates, treatment failures to the azole class of antifungals, the most widely used antifungal for treatment of Candida infections, have been reported. Contributing to this problem, C. glabrata exhibits intrinsic reduced susceptibility to the azole antifungals, and the development of high-level azole resistance …
The Use Of Preclinical Models To Improve The Treatment Of Retinoblastoma, Katie Marie Nemeth
The Use Of Preclinical Models To Improve The Treatment Of Retinoblastoma, Katie Marie Nemeth
Theses and Dissertations (ETD)
Rodent models play an essential role in the development of new chemotherapeutics and dosing regimes. It is often difficult to carryout a clinical study for pediatric cancers due to the small patient population. Retinoblastoma, a pediatric cancer of the eye, is one example of a pediatric cancer that can benefit from preclinical studies. Over the years various retinoblastoma rodent models have been developed used to test various combination of broad-spectrum systemic chemotherapy. It was found form these studies that the combination of topotecan and carboplatin was effective. However both drugs cause myelosuppression and therefore administrating both of these drugs systemically …
Tetrahydroisoquinoline Neurotoxins In Parkinson Disease, Michael G. Decuypere
Tetrahydroisoquinoline Neurotoxins In Parkinson Disease, Michael G. Decuypere
Theses and Dissertations (ETD)
The goal of this dissertation work was to (1) determine the distribution of several tetrahydroisoquinoline (TIQ) derivatives in rodent, normal human and Parkinson disease (PD) brain, (2) quantify the levels of these TIQ derivatives in common food sources in an effort to link specific food intake patterns with the development of PD and (3) examine the neurotoxicity of select TIQ derivatives in human dopaminergic cell culture. The TIQs are a family of monoamine alkaloids that share structural homology with 1-methyl-4-phenyl-1,2,3,6-tetrahyrdropyridine (MPTP), can be formed from dopamine or its oxidized metabolites and may be involved in the pathogenesis of monoaminergic cell …
Glycan Shielding Of The Influenza Virus Hemagglutinin Elicits Evasion Of The Adaptive Immune Response And T-Cell-Driven Pathology, Keith C. Wanzeck
Glycan Shielding Of The Influenza Virus Hemagglutinin Elicits Evasion Of The Adaptive Immune Response And T-Cell-Driven Pathology, Keith C. Wanzeck
Theses and Dissertations (ETD)
Three separate influenza pandemics have emerged in the human population since 1918, each characterized by viruses that lack N-linked glycosylation sites on the globular head of the hemagglutinin protein. In contrast, recent non-pandemic isolates have acquired such sites. Here we constructed isogenic viruses containing differing numbers of additional N-linked glycosylation sites to assess the impact on the host immune response. These studies show that mice infected with a glycosylated virus remain susceptible to challenge with a non-glycosylated virus, glycosylated viruses elicit an inferior immune response, and in this context T-cell pathology and death may occur. We conclude from these data …
An Assessment Of Obesity And Hyperphagia In Individuals With Smith-Magenis Syndrome, Carrie A. Crain
An Assessment Of Obesity And Hyperphagia In Individuals With Smith-Magenis Syndrome, Carrie A. Crain
Dissertations & Theses (Open Access)
Smith-Magenis syndrome (SMS;OMIM# 182290) is a multiple congenital anomalies and mental retardation syndrome caused by a 3.7- Mb deletion on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing growth patterns in SMS. There is some evidence that individuals with SMS develop obesity. Thus, this study aims to characterize the growth and potential influence of hyperphagia in a cohort of individuals with SMS. A retrospective chart review was conducted of 78 individuals with SMS through Baylor College of Medicine (BCM) at Texas Children¡¯s Hospital …