Medicine and Health Sciences Commons^™

Identification And Characterization Of Two Novel Kcnh2 Mutations Contributing To Long Qt Syndrome, Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo

Electrical & Computer Engineering Faculty Publications

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes. We performed associated multiscale computer simulations to elucidate the arrhythmogenic potentials of the KCNH2 mutations. Genetic screening of the first and second index patients revealed a heterozygous missense mutation in KCNH2, resulting in an amino acid change (P632L) in the …

Meeting The 24-H Movement Guidelines And Health-Related Outcomes Among Youth With Autism Spectrum Disorder: A Seven-Country Observational Study, Chunxiao Li, Justin A. Haegele, Fenghua Sun, Maria Luiza Tanure Alves, Stefanie Hwee Chee Ang, Jihyun Lee, Kwok Ng, Isabella Dos Santos Alves, Sean Healy, Wendy Yajun Huang, Pauli Rintala, Jernice Sing Yee Tan, Yandan Wu, Hannah Yang, Eija Kärnä, Hyokju Maeng, André Lisandro Schliemann

Human Movement Sciences Faculty Publications

Background: Meeting daily guidelines for physical activity, screen time, and sleep duration is associated with a host of health indicators for youth. In this cross-sectional observational study, we investigated the associations between adherence to the movement guidelines and health-related outcomes among youth with autism spectrum disorder (ASD).

Methods: Parents of youth with ASD (10-17 years) from seven countries and regions were invited to provide online proxy-reports for child's movement behaviors (i.e., physical activity, sleep and screen time), and health-related outcomes (i.e., body mass index [BMI], general health, and quality of life). A series of multiple linear regression analyses were used …

Serological Proteomic Screening And Evaluation Of A Recombinant Egg Antigen For The Diagnosis Of Low-Intensity Schistosoma Mansoni Infections In Endemic Area In Brazil, Vanessa Silva-Moraes, Lisa Marie Shollenberger, William Castro-Borges, Ana Lucia Teles Rabello, Donald A. Harn, Lia Carolina Soares Medeiros, Wander De Jesus Jeremias, Liliane Maria Vidal Siqueira, Caroline Stephane Salviano Pereira, Maria Luysa Camargos Pedrosa, Nathalie Bonatti Franco Almeida, Aureo Almeida, Jose Roberto Lambertucci, Nidia Francisca De Figueiredo Carneiro, Paulo Marcos Zech Coelho, Refaella Fortini Queiroz Grenfell

Biological Sciences Faculty Publications

Background

Despite decades of use of control programs, schistosomiasis remains a global public health problem. To further reduce prevalence and intensity of infection, or to achieve the goal of elimination in low-endemic areas, there needs to be better diagnostic tools to detect low-intensity infections in low-endemic areas in Brazil. The rationale for development of new diagnostic tools is that the current standard test Kato-Katz (KK) is not sensitive enough to detect low-intensity infections in low-endemic areas. In order to develop new diagnostic tools, we employed a proteomics approach to identify biomarkers associated with schistosome-specific immune responses in hopes of developing …

Independent And Interactive Associations Of Negative Affect, Restraint, And Impulsivity In Relation To Binge Eating Among Women, Tyler B. Mason, Kathryn E. Smith, Jason M. Lavender, Robin J. Lewis

Psychology Faculty Publications

There is growing recognition that impulsivity may serve as an underlying risk factor for binge eating. In addition, the association of impulsivity with binge eating may be moderated by other affective and cognitive risk factors. This study examined independent and interactive associations of negative affect, dietary restraint, and facets of impulsivity with binge eating. A diverse sample of 566 undergraduate women completed online questionnaires of study variables. Results revealed a three-way interaction of negative affect, dietary restraint, and attentional impulsivity in relation to binge eating. Women who were high on each of these three variables reported the greatest levels of …