Digital Commons Network^™

De Novo Frameshift Mutation In Asxl3 In A Patient With Global Developmental Delay, Microcephaly, And Craniofacial Anomalies., Darrell L. Dinwiddie, Sarah E. Soden, Carol J. Saunders, Neil A. Miller, Emily G. Farrow, Laurie D. Smith, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders.

CASE PRESENTATION: …

The Tiger Genome And Comparative Analysis With Lion And Snow Leopard Genomes, Yun Sung Cho, Li Hu, Haolong Hou, Hang Lee, Jiaohui Xu, Soowhan Kwon, Sukhun Oh, Hak-Min Kim, Sungwoong Jho, Sangsoo Kim, Young-Ah Shin, Byung Chul Kim, Hyunmin Kim, Chang-Uk Kim, Shu-Jin Luo, Warren E. Johnson, Klaus-Peter Koepfli, A. Schmidt-Kunzel, Jason A. Turner, L. Marker, Cindy K. Harper, Susan M. Miller, Wilhelm Jacobs, Laura D. Bertola, Tae Hyung Kim, Sunghoon Lee, Qian Zhou, Hyun-Ju Jung, Xiao Xu, Priyvrat Gadhvi, Pengwei Xu, Yingqi Xiong, Yadan Luo, Shengkai Pan, Caiyun Gou, Xiuhui Chu, Jilin Zhang, Sanyang Liu, Jing He, Ying Chen, Linfeng Yang, Yulan Yang, Jiaju He, Sha Liu, Junyi Wang, Chul Hong Kim, Hwanjong Kwak, Jong-Soo Kim, Seungwoo Hwang, Junsu Ko, Chang-Bae Kim, Sangtae Kim, Damdin Bayarlkhagva, Woon Kee Paek, Seong-Jin Kim, Stephen J. O'Brien, Jun Wang, Jong Bhak

Biology Faculty Articles

Tigers and their close relatives (Panthera) are some of the world’s most endangered species. Here we report the de novo assembly of an Amur tiger whole-genome sequence as well as the genomic sequences of a white Bengal tiger, African lion, white African lion and snow leopard. Through comparative genetic analyses of these genomes, we find genetic signatures that may reflect molecular adaptations consistent with the big cats’ hypercarnivorous diet and muscle strength. We report a snow leopard-specific genetic determinant in EGLN1 (Met39>Lys39), which is likely to be associated with adaptation to high altitude. We also detect a …

Comt1 Gene Fiber-Specific Promoter Elements From Poplar, Chung-Jui Tsai, Edward Odhiambo Anino

Michigan Tech Patents

Polynucleotide constructs contain fiber-specific elements which are used to target expression of polynucleotides and polypeptides to the vascular fibers of a plant. The constructs can be contained within a vector. Transgenic plants transformed with the fiber-specific elements can e made which have expression of polynucleotide or polypeptide directed to the plant fibers.

The Prospector, September 17, 2013, Utep Student Publications

The Prospector

Headline: Should I Stay? Should I Go?

Um Faculty Members Helping Grow State Food Economy, Michael Newsom

University of Mississippi News

Two address Appalachian Regional Commission on efforts to promote local foods

Stuck Kids : A Study Examining The Factors That Contribute To Hospitalized Children Getting Placed On Administrative Days : A Project Based Upon An Investigation At A Pediatric Post-Acute Rehabilitation Hospital, Hanna C. Soumerai

Theses, Dissertations, and Projects

This study examined factors that contribute to medically complex children getting "stuck" in acute rehabilitation hospital level of care even though they were medically ready for discharge. Of special interest were caretaker and societal-related factors that may have a high potential for change and early intervention. Sample. Retrospective, non-comparative case series. Methods. The medical records of 20 children discharged between 2010 and 2012 from a specialty acute rehabilitation hospital in New England were surveyed using a protocol designed for the project. The children had been placed on "administrative days" (AD) prior to discharge. Univariate and bivariate analysis examined the impact …

Bjc Today

BJC Today

No abstract provided.

Contextually Teaching Motion Design, Gretchen Caldwell Rinnert

Learn X Design Conference Series

Motion design (also called motion graphics) is an underdeveloped subject within design education. Often taught as part of a separate elective course, housed in a computer lab and taught by graduate students or adjunct faculty, this subject is often associated with long planning hours, tedious software exercises, and inadequate formal results. However, at Kent State University, we believe that motion design has significant value for the design student's education and deserves integration into design curriculum. Integration of motion into curriculum has exponential value: it teaches systems thinking, research skills, and information design. We are entering an exciting time in graphic …

The Murray Ledger And Times, September 14, 2013, The Murray Ledger And Times

The Murray Ledger & Times

No abstract provided.

Epidemiology Of Esophageal Cancer, Yuwei Zhang

Environmental and Occupational Health Faculty Publications

Esophageal cancer (EsC) is one of the least studied and deadliest cancers worldwide because of its extremely aggressive nature and poor survival rate. It ranks sixth among all cancers in mortality. In retrospective studies of EsC, smoking, hot tea drinking, red meat consumption, poor oral health, low intake of fresh fruit and vegetables, and low socioeconomic status have been associated with a higher risk of esophageal squamous cell carcinoma. Barrett’s esophagus is clearly recognized as a risk factor for EsC, and dysplasia remains the only factor useful for identifying patients at increased risk, for the development of esophageal adenocarcinoma in …

Skeletal Muscle Metabolic Gene Response To Carbohydrate Feeding During Exercise In The Heat, Charles Dumke, Dustin R. Silvka, John S. Cuddy, Walter S. Hailes, Brent Ruby

Integrative Physiology and Athletic Training Faculty Publications

Background: Heat stress down-regulates mitochondrial function, while carbohydrate supplementation attenuates the exercise induced stimulation of mitochondrial biogenesis in humans. The effects of exogenous carbohydrate during exercise in the heat on metabolic mRNA have not been investigated in humans. The purpose of this study was to determine the impact of exercise with and without carbohydrate supplementation on skeletal muscle metabolic response in the heat.

Methods: Eight recreationally active males (4.05 ± 0.2 L.min-1) completed 2 trials which included 1 hr of cycling at 70% workload max and 3 hr recovery in a hot environment. Both trials were conducted in a climate …

Palliative Care For The Medically Complex Child, Melanie Anspacher, Neha H. Shah

E-Learning Modules

**From the AAMC website: Contains time-sensitive information that will likely be inaccurate, obsolete, or irrelevant by August 12, 2016**

Children with special health care needs are increasingly prevalent in US hospitals. The pediatric hospitalist is often the primary provider of inpatient care for these patients. The Complex Care Curriculum was developed to provide a multi-modal educational curriculum for providers with the overall goal of improving inpatient care for this population. The curriculum is composed primarily of a series of topic-specific learning modules. This particular resource was created to provide pediatricians with educational materials related to palliative care for the medically …

Perspectives Of Bariatric Surgery Patients On The Role Of Pre And Post Bariatric Surgery Counseling, Daniel K. Rodrigues

Theses, Dissertations, and Projects

This research study explores the perspectives of bariatric surgery patients about the role of pre and post bariatric surgery counseling. Their perspectives were gathered through semi-structured, qualitative interviews, which explored participants' experiences with counseling throughout the bariatric surgery procedure. This study also aimed to identify what barriers patients encountered when seeking counseling and what improvements could be made to the process. Major findings were that most participants felt unprepared for surgery, and that the pre-surgical psychosocial intakes were not useful in preparation. Many participants felt intakes could have been helpful if conducted differently. It was also identified that intake clinicians …

Happy Is The Woman Who Has No History : An Historical Discourse Analysis Of Women, Their Changing Roles And Society's Changing Perceptions, 1890-1920 In America, Sarah E. Pulver

Theses, Dissertations, and Projects

This analysis examines the historical mental health needs that emerged for women at the turn of the 19th century as a result of drastic changes in the tenor of the United States. The research explores literature pertaining to women from 1890-1920 in the United States and relates to four main topic areas as a way to examine trends and patterns in mental health needs and supports at the time in history. The Historical Research approach is well suited for this research as the specific goal of the study is to examine the historical sources for patterns and trends to better …

The Effects Of Long-Term Physical Activity On Food Attention Allocation In College Freshmen Women, Sharla Elizabeth Compton

Theses and Dissertations

Purpose: The purpose of this study was to examine the effects of long-term (24 weeks) physical activity on attention allocated toward food in college freshmen women. Methods: Seventy-nine freshmen college women wore a multi-function pedometer for 24 weeks after being randomly assigned to a daily step level: 10,000; 12,500; or 15,000. After at least 16 weeks of intervention, participants were given a cognitive viewing task (pictures of food and flowers) with the neural response measured using electroencephalogram (EEG) and event-related potentials (ERPs). P300s and LPPs are components of the ERP indicating increased attention to stimuli. Results: There was a significant …

Educational Policies Committee Program Proposal, College Of Agriculture And Applied Sciences, September 13, 2013 - Dietetic Internship, Utah State University

Educational Policies Committee

Currently students enrolled in the Utah State University Dietetic Internship (DI) are admitted to the university as undeclared post-graduate endorsement students.

School Gardens, David W. Hey

Kinesiology and Public Health

School gardens can have great promise as they can positively impact children's food choices by improving their preferences for vegetables, increasing their nutrition knowledge, and prevent nutritionally related diseases (i.e., diabetes and obesity). In their natural state, fruits and vegetables have high water and fiber content and are low in calories and energy density. Additionally, it has been demonstrated that the use of a garden as part of an outdoor environmental studies program can have a beneficial impact on performance of standardized achievement tests, as well as attention and enthusiasm for learning in school children.

In June of 2004, national …

Epidemiology News, Georgia Southern University

Biostatistics, Epidemiology & Environmental Health Sciences: News & Publications (2011-2018)

• Perceptions or Reality of Body Weight

Chimes: September 13, 2013, Calvin College

Chimes

Calvin women's volleyball officially top in nation by Brain Exner

Calvin to remember De Groot by Ryan Struyk

LOFT ends 15-year-old 'Grow in Grace' tradition by Matthias Struble and Connor Sterchi

CIT works to inform students about email scams by Connor Sterchi

Calvin jumps in national liberal arts college rankings by Alden Hartopo & Connor Sterchi

Cryptocurrency mining in campus computer labs a tough sell by John Muyskens

Lanthorn, Vol. 48, No. 07, September 12, 2013, Grand Valley State University

Volume 48, July 1, 2013 - June 2, 2014

Lanthorn is Grand Valley State's student newspaper, published from 1968 to the present.

The Utah Statesman, September 12, 2013, Utah State University

The Utah Statesman

Weekly student newspaper of Utah State University in Logan.

The Daily Gamecock, Monday, September 9, 2013, University Of South Carolina, Office Of Student Media

September

No abstract provided.

Flyer News, Vol. 61, No. 4 (Sept. 12, 2013), University Of Dayton

Flyer News

Student-run newspaper of the University of Dayton.

Predicting Regional Circumferences From Regional Body Composition Data, Toria Mcmullin, Dr. Robert T. Davidson

Journal of Undergraduate Research

Due to the current trend obesity rates and the increased public awareness of the connection between body composition and health, individuals are becoming more and more interested in assessing and changing their own body composition. The current methods used to assess body composition include the following: dual-energy x-ray absorptiometry (DEXA), computerized tomography (CT) scans, magnetic resonance imaging (MRI), bioelectric impedance analysis (BIA), Near-Infrared Interactance (NIR), BodPod measurements, skinfold and circumference anthropometric measurements, and hydrodensitometry. Multicomponent models most accurately predict body composition. However, such models—including hydrodensitometry and DEXA—are either too difficult or too costly for practical, widespread consideration. Other methods are …

The Pan American (2013-09-12), Norma Gonzalez, Lea Victoria Juarez

UTPA Archives - The Pan American Newspaper

Vol. 70, No. 3

The Use Of 13c/12c And 15n/14n Stable Isotope Ratio Analysis To Determine Carnivory Level In Gender Identified Free-Ranging Utah American Black Bears (Ursus Americanus), Eric Olsen, Beverly Roeder

Journal of Undergraduate Research

Stable isotope analysis of carbon (13C/12C or d13C) and nitrogen (15N/14N or d15N) has been shown to provide a more accurate estimate of overall diet in various mammalian species (Sponheimer et al. 2003). This technique was used to determine the amount of vegetation and animal protein in the nutritional uptake of free ranging Utah black bears (Ursus americanus). Samples were obtained from harvested bears taken during the fall 2005 and spring 2006 hunt from various regions of Utah via the Utah Division of Wildlife Resources (UDWR). Gender was reported by the hunters at time of harvest. Age was determined by …

Vitamin K And Omega-3 Fatty Acids In Osteoporosis Treatment, Brandon J. Valgardson, Dr. Robert Davidson

Journal of Undergraduate Research

Bone deterioration affects all people. Postmenopausal women are affected more than men. However, the elderly tend to shrink instead of maintain the same height because their bone density is diminishing. Death is a result of severe osteoporosis. Bone mineral growth is said to be increased by pharmacologic levels of vitamin K, supplemented by a diet high in Omega-3 fatty acids. Frequent doses of vitamin K in one’s diet cause the bone mineral density to increase in individuals affected by the disorder. Omega-3 fatty acids decrease the risk for the onset of osteoporosis. This research experiment is based on the hypothesis …

The Effect Of Isoflavone And Selenium Diets On Body Composition (Biochemical Responses To Phytoestrogen And Selenium Diets In Noble Rats Relating To Reduced Prostate Cancer Risk), Jessica Tolman, Dr. Merrill J. Christensen

Journal of Undergraduate Research

The intent of the following research was to fulfill the thesis requirements for the BYU Honors Program, the following report is complied from excerpts from my Honors Thesis. The results were presented at the 8th International Symposium on Selenium in Biology and Medicine. At the beginning of this project I focused my interests on the effect of isoflavone and selenium on body composition. I later used these findings and the effect of isoflavone and selenium on hormone serum levels to determine the effect of isoflavone and selenium on prostate cancer risk.

Characterization Of A Cdna Encoding Β-Amyrin Synthase Involved In Saponin Biosyntheses In Chenopodium Quinoa, Derrick J. Reynolds, Dr. P. Jeff Maughan

Journal of Undergraduate Research

Quinoa (Chenopodium quinoa Willd) is an important crop for subsistence farmers in the Altiplano (high plains) of Peru, Bolivia, and Argentina. Quinoa has the potential to be an effective crop for many temperate and highland-tropical regions due to its ability to thrive in drought, saline and high-altitude conditions. The nutritional value of quinoa has been well documented. Several analyses have confirmed that quinoa grain has an excellent balance of carbohydrates, lipids, and proteins and provides an ideal balance of essential amino acids for human nutrition.1 Quinoa grain also has a seed coating consisting of various saponins. Saponins are waxy, soap-like …

Barriers To Overcoming Malnutrition In Tucumán, Argentina, Trista Jones, Dr. Erin Maughan

Journal of Undergraduate Research

In the 1990s Argentina was considered one of the ten richest countries in the world; in 2002, Argentina underwent a severe governmental crisis that resulted in monetary inflation and high levels of unemployment (Arie, 2002). The economy has made it difficult for many to afford basic essentials like food. This political and economic instability has been considered a key component to the now prevalent problem of malnutrition in Argentine children, especially of the rural provinces. Estimates of up to two million children in the country suffer from malnutrition (Arie, 2002). Government and Humanitarian aid organizations provide some meals to children …