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Full-Text Articles in Medicine and Health Sciences

Malignant Hyperthermia, Alexandra Mcguire Jan 2019

Malignant Hyperthermia, Alexandra Mcguire

Nursing Student Class Projects (Formerly MSN)

Malignant Hyperthermia (MH) is a rare but life-threatening, genetic condition that can manifest when a patient is exposed to certain inhalation agents used in anesthesia as well as the depolarizing muscle relaxant succinylcholine (Rosenberg, Pollock, Schiemann, Bulger, & Stowell, 2015, p. 1). MH can develop during or after a surgical procedure and if left untreated, can cause major organ system damage and death (Seifert, Wahr, Pace, Cochrane, & Bagnola, 2014, p. 189). Creating awareness of this rare genetic condition allows for quicker interventions in reversing MH.


The Pathophysiology Of Alpha-1 Antitrypsin Deficiency And Copd, Melissa M. Miller Aug 2016

The Pathophysiology Of Alpha-1 Antitrypsin Deficiency And Copd, Melissa M. Miller

Nursing Student Class Projects (Formerly MSN)

Chronic obstructive pulmonary disease (COPD) is the number one disease process treated in the Pulmonary Department at the Chalmers P. Wylie VA Ambulatory Care Center (VAACC). The medical staff includes doctors, nurses, and respiratory therapists. The team works together to ensure the veteran gets the best care available. Smoking is very popular in the military, and this puts veterans at a higher risk for COPD, compared to the general public. COPD can develop at a much younger age if the patient has alpha-1 antitrypsin deficiency (AATD). Janciauskiene, Ferrotti, Laenger, Jonigk, and Luisetti (2011) point out that patients who develop COPD …


Use Of Statin Therapy In Children And Adolescents Diagnosed With Familial Hypercholesterolemia To Prevent Premature Cardiovascular Disease, Ashley Harmon Mar 2016

Use Of Statin Therapy In Children And Adolescents Diagnosed With Familial Hypercholesterolemia To Prevent Premature Cardiovascular Disease, Ashley Harmon

Nursing Capstones

No abstract provided.


Assessing Awareness Of The Genetic Information Nondiscrimination Act Of 2008 (Gina) Among Nurse Practitioners, Mary Steck May 2014

Assessing Awareness Of The Genetic Information Nondiscrimination Act Of 2008 (Gina) Among Nurse Practitioners, Mary Steck

All Dissertations

Genetic advancements during the latter part of the 20th century and the beginning of the 21st century have presented individuals, the medical community, and legislators at state and federal levels, with numerous genetic discrimination predicaments. Oncology nurses need to be knowledgeable about GINA (The Genetic Information Nondiscrimination Act of 2008) and its applications to clinical practice. GINA is the first federal law passed to protect United States' citizens with inherited disorders from being treated unfairly due to their genetic make-up. Understanding the legislation known as GINA, including how it modifies existing federal laws governing health insurance coverage and employment discrimination, …


Childhood Obesity And Familial Hypercholesterolemia: Genetic Diseases That Contribute To Cardiovascular Disease, Alyssa Caudle Apr 2014

Childhood Obesity And Familial Hypercholesterolemia: Genetic Diseases That Contribute To Cardiovascular Disease, Alyssa Caudle

Senior Honors Theses

Childhood obesity occurs as the result of an imbalance between caloric intake and energy expenditure. Genetic risk factors for obesity have become an area of research due to its permanency. Mutated genes such as Fat Mass and Obesity Associated (FTO), Leptin (LEP), Leptin Receptor (LEPR), Melanocortin 4 Receptor (MC4R), Adiponectin C1Q and Collagen Domain Containing (ADIPOQ), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1), and Peroxisome Proliferator-Activated Receptor Gamma (PPARG) all contribute to the development of childhood obesity. In the presence of high cholesterol caused by obesity, the genetic condition known as familial hypercholesterolemia is exacerbated. Familial hypercholesterolemia is caused by a …


Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray Mar 2012

Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray

Sandra Daack-Hirsch

Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …


Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray Oct 2011

Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray

Sandra Daack-Hirsch

Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …