Results 121 to 130 of about 1,077,298 (290)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Utah’s Family High Risk Program: Bridging the Gap Between Genomics and Public Health

Preventing Chronic Disease, 2005
Background Family history is a simple yet powerful genomic tool that can identify individuals and entire populations at risk for diseases such as heart disease, cancer, and diabetes.
Steven C. Hunt, PhD, LaDene Larsen, RN, BSN, Ted Adams, PhD, MSPH, Joan Ware, MSPH, RN, Jenny Johnson, CHES, Rebecca T. Giles, MPH, CHES   +5 more
doaj  

Effectiveness of Variable Message Signs on Utah Roadways

Future Transportation
This paper presents the findings of a dual-approach research study conducted for the Utah Department of Transportation to evaluate the effectiveness of variable message sign (VMS) treatments on Utah roadways.
Matthew C. Davis, Adam W. Hill, Grant G. Schultz, Gregory L. Snow   +3 more
doaj   +1 more source

SLIPPERY SLOPE ? ASSESSING THE ECONOMIC IMPACT OF THE 2002 WINTER OLYMPIC GAMES IN SALT LAKE CITY, UTAH [PDF]

This paper provides an empirical examination of the 2002 Winter Olympic Games in Salt Lake City, Utah. Our analysis of taxable sales in the counties in which Olympic events took place finds that some sectors such as hotels and restaurants prospered while
Robert A. BAADE, Robert W. BAUMANN, Victor A. MATHESON   +2 more
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Dissent in Zion: Outsider Practices in Utah

New Proposals, 2018
Most communities in Utah are predominately Mormon, and Mormon practices and beliefs strongly influence practices in everyday society and culture. Yet, there also many non-Mormons who live in Utah.
Ezra Anton Greene
doaj  

Stakeholder Perspectives on Therapeutic and Safe Building Design in Residential Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Residential care is a form of out‐of‐home care that plays a critical role in supporting vulnerable young people in Australia. However, there is an evidence gap regarding the built environment in this context. This research aimed to explore the perspectives of key stakeholders in residential care in Victoria, Australia, regarding design that ...
Carmen Schroder, Olivia Crivari, Phillippa Carnemolla, Libby Callaway   +3 more
wiley   +1 more source

Genetic Analysis of Recently Discovered Least Chub Populations in the Upper Snake River and Bonneville Drainages

Ecology and Evolution
The Least Chub (Iotichthys phlegethontis) is a small minnow endemic to the Bonneville Basin in Utah. Recently, new populations of Least Chub have been discovered in the upper Snake River in Idaho and in the San Pitch River downstream of Gunnison ...
Eric J. Billman, Michael Terribilini, Cody Smith, Trevor J. Williams, Chance Broderius, Paul Thompson   +5 more
doaj   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source