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Articles 1 - 16 of 16
Full-Text Articles in Medicine and Health Sciences
Malignant Hyperthermia, Alexandra Mcguire
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
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
Nursing Capstones
No abstract provided.
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
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 …
Pharmacogenetic Screening For Susceptibility To Fetal Malformations In Women, D. Van Dyke, V. Ellingrod, M. Berg, Jennifer Niebyl, A. Sherbondy, D. Trembath
Pharmacogenetic Screening For Susceptibility To Fetal Malformations In Women, D. Van Dyke, V. Ellingrod, M. Berg, Jennifer Niebyl, A. Sherbondy, D. Trembath
Jennifer R Niebyl
OBJECTIVE: To present a review of the literature and research on the pharmacogenetics of congenital defects, with a focus on the need for predictive maternal genotype assays. DATA SOURCE: MEDLINE searches (January 1985-January 1999), past reference reviews, and unpublished research. STUDY SELECTION: Review of relevant human, animal, and basic science studies. DATA EXTRACTION: Data on research on polymorphisms, genotyping, cytochrome P450 enzyme systems, epoxide hydrolase, folate metabolism, metabolism of anticonvulsant medications, molecular genetics of neural tube defects, variations in drug metabolism, and environmental exposures were evaluated. DATA SYNTHESIS: Data synthesis includes not only a review of the literature but suggests …
Progesterone Regulation Of Activating Protein-1 Transcriptional Activity: A Possible Mechanism Of Progesterone Inhibition Of Endometrial Cancer Cell Growth, Donghai Dai, E. S. Litman, E. Schonteich, K. K. Leslie
Progesterone Regulation Of Activating Protein-1 Transcriptional Activity: A Possible Mechanism Of Progesterone Inhibition Of Endometrial Cancer Cell Growth, Donghai Dai, E. S. Litman, E. Schonteich, K. K. Leslie
Donghai Dai
The uterine endometrium and cancers derived from it are classic models of hormone action: estrogen promotes growth and progesterone inhibits proliferation and results in differentiation. We have now identified a major pathway through which progesterone causes these growth-limiting effects. Ligand-bound progesterone receptors modulate the composition and transcriptional activity of members of the activating protein-1 (AP-1) family, and in particular, c-Jun. First, a dominant negative form of c-Jun inhibits the constitutive growth of Hec50co cells in a manner similar to the effects of progesterone through progesterone B receptors. Second, progesterone inhibits the transcriptional activity of the AP-1 complex in reporter gene …
Quantitative Interpretation Of A Genetic Model Of Carcinogenesis Using Computer Simulations, Donghai Dai, B. Beck, X. Wang, C. Howk, Y. Li
Quantitative Interpretation Of A Genetic Model Of Carcinogenesis Using Computer Simulations, Donghai Dai, B. Beck, X. Wang, C. Howk, Y. Li
Donghai Dai
The genetic model of tumorigenesis by Vogelstein et al. (V theory) and the molecular definition of cancer hallmarks by Hanahan and Weinberg (W theory) represent two of the most comprehensive and systemic understandings of cancer. Here, we develop a mathematical model that quantitatively interprets these seminal cancer theories, starting from a set of equations describing the short life cycle of an individual cell in uterine epithelium during tissue regeneration. The process of malignant transformation of an individual cell is followed and the tissue (or tumor) is described as a composite of individual cells in order to quantitatively account for intra-tumor …
A Phase Ii Evaluation Of Lapatinib In The Treatment Of Persistent Or Recurrent Epithelial Ovarian Or Primary Peritoneal Carcinoma: A Gynecologic Oncology Group Study, A. Garcia, M. Sill, H. Lankes, A. Godwin, R. Mannel, D. Armstrong, R. Carolla, M. Liepman, N. Spirtos, E. Fischer, Kimberly Leslie
A Phase Ii Evaluation Of Lapatinib In The Treatment Of Persistent Or Recurrent Epithelial Ovarian Or Primary Peritoneal Carcinoma: A Gynecologic Oncology Group Study, A. Garcia, M. Sill, H. Lankes, A. Godwin, R. Mannel, D. Armstrong, R. Carolla, M. Liepman, N. Spirtos, E. Fischer, Kimberly Leslie
Kimberly K. Leslie
OBJECTIVE: Activation and dimerization of the ERBB family play a role in the pathogenesis and progression of ovarian cancer. We conducted a phase II trial to evaluate the activity and tolerability of lapatinib in patients with recurrent or persistent epithelial ovarian cancer (EOC) and to explore the clinical value of expression levels of epidermal growth factor receptors (EGFR), phosphorylated EGFR, HER-2/neu, and Ki-67, and the presence of EGFR mutations. METHODS: Eligible patients had recurrent or persistent EOC or primary peritoneal carcinoma, measurable disease, and up to 2 prior chemotherapy regimens for recurrent disease. Patients were treated with lapatinib 1500 mg/day. …
Progesterone Regulation Of Activating Protein-1 Transcriptional Activity: A Possible Mechanism Of Progesterone Inhibition Of Endometrial Cancer Cell Growth, Donghai Dai, E. Litman, E. Schonteich, Kimberly Leslie
Progesterone Regulation Of Activating Protein-1 Transcriptional Activity: A Possible Mechanism Of Progesterone Inhibition Of Endometrial Cancer Cell Growth, Donghai Dai, E. Litman, E. Schonteich, Kimberly Leslie
Kimberly K. Leslie
The uterine endometrium and cancers derived from it are classic models of hormone action: estrogen promotes growth and progesterone inhibits proliferation and results in differentiation. We have now identified a major pathway through which progesterone causes these growth-limiting effects. Ligand-bound progesterone receptors modulate the composition and transcriptional activity of members of the activating protein-1 (AP-1) family, and in particular, c-Jun. First, a dominant negative form of c-Jun inhibits the constitutive growth of Hec50co cells in a manner similar to the effects of progesterone through progesterone B receptors. Second, progesterone inhibits the transcriptional activity of the AP-1 complex in reporter gene …
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
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 …
Microdeletions At Chromosome Bands 1q32-Q41 As A Cause Of Van Der Woude Syndrome, B. Schutte, A. Basart, Y. Watanabe, J. Laffin, K. Coppage, B. Bjork, Sandra Daack-Hirsch, S. Patil, M. Dixon, J. Murray
Microdeletions At Chromosome Bands 1q32-Q41 As A Cause Of Van Der Woude Syndrome, B. Schutte, A. Basart, Y. Watanabe, J. Laffin, K. Coppage, B. Bjork, Sandra Daack-Hirsch, S. Patil, M. Dixon, J. Murray
Sandra Daack-Hirsch
Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits. We reported previously a family whose underlying mutation is a 500-800 kb deletion localized to chromosome bands 1q32-q41 [Sander et al., 1994: Hum Mol Genet 3:576-578]. Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted. To further localize the VWS gene we searched for other deletions that cause VWS. An allele loss assay was performed using a novel highly polymorphic marker, D1S3753. From a panel of …
Discordant Mz Twins With Cleft Lip And Palate: A Model For Identifying Genes In Complex Traits, M. Mansilla, J. Kimani, L. Mitchell, K. Christensen, D. Boomsma, Sandra Daack-Hirsch, B. Nepomucena, D. Wyszynski, T. Felix, N. Martin, J. Murray
Discordant Mz Twins With Cleft Lip And Palate: A Model For Identifying Genes In Complex Traits, M. Mansilla, J. Kimani, L. Mitchell, K. Christensen, D. Boomsma, Sandra Daack-Hirsch, B. Nepomucena, D. Wyszynski, T. Felix, N. Martin, J. Murray
Sandra Daack-Hirsch
Monozygotic (MZ) twins may be discordant for complex traits due to differential environmental exposure in utero, epigenetic variability in imprinting, X chromosome inactivation, or stochastic effects. Occasionally MZ twins may be discordant for chromosomal and single gene disorders due to somatic mosaicism. For complex traits, which are due to the interactive effects of multiple genes and environmental factors, the affected twin of a discordant MZ pair offers the possibility for identifying somatic mutations in candidate genes. DNA sequencing of candidate genes in discordant MZ twins can identify those rare etiologic mutational events responsible for the different phenotypes since the confounding …
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
Sandra Daack-Hirsch
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in …
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
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 …
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Sandra Daack-Hirsch
BACKGROUND: Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene. METHODS: We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. A single-nucleotide polymorphism in this gene results in either a valine or …