Medicine and Health Sciences Commons^™

Building Organizational Learning Capacity: A Road Map For Nurse Executives, Bret Lyman, Marie M. Prothero, Joy Parchment

Faculty Publications

The purpose of this article is to guide nurse executives in building learning capacity within their organizations. The Organizational Learning Road Map provided is grounded in the American Organization for Nursing Leadership’s Nurse Leader Core Competencies. Key steps include: developing one’s self as a learning leader, sharing a learning-focused vision for the organization, establishing a culture of learning, charting a course toward becoming a learning organization, developing a leadership team to support learning throughout the organization, measuring progress toward the vision, and sustaining momentum.

Routine Pathologic Examination Of The Femoral Head In Total Hip Arthroplasty: A Survey Study Of The American Association Of Hip And Knee Surgeons, Sumon Nandi, Javad Parvizi, Aahks Research Committee

Rothman Institute Papers

Background: Current literature does not provide conclusive evidence on whether routine pathologic examination of femoral heads from total hip arthroplasty is indicated or cost-effective. As a result, there is substantial variation in opinion among surgeons related to this issue. Our study aim was to determine factors that impact surgeon propensity to order pathologic examination of femoral heads.

Methods: A 12-question survey was created to evaluate surgeon practices, indications, and patient care implications surrounding routine pathologic examination of femoral heads. The email survey was distributed to all members of the American Association of Hip and Knee Surgeons (n = 2598).

Results: …

Sorting Through Life: Evaluating Patient-Important Measures Of Success In A Medication For Opioid Use Disorder (Moud) Treatment Program, Megan K Reed, Kelsey R Smith, Francesca Ciocco, Richard W. Hass, Avery Lin Cox, Erin L Kelly, Lara Weinstein

Department of Emergency Medicine Faculty Papers

Background: Medication for opioid use disorder (MOUD) is the gold standard treatment for opioid use disorder. Traditionally, "success" in MOUD treatment is measured in terms of program retention, adherence to MOUD, and abstinence from opioid and other drug use. While clinically meaningful, these metrics may overlook other aspects of the lives of people with opioid use disorder (OUD) and surprisingly do not reflect the diagnostic criteria for OUD.

Methods: Authors identified items for a pilesorting task to identify participant-driven measures of MOUD treatment success through semi-structured interviews. Interviews were transcribed verbatim and coded in Nvivo using directed and conventional content …

Building Organizational Learning Capacity: A Road Map For Nurse Executives, Bret Lyman, Marie M. Prothero, Joy Parchment

Faculty Publications

The purpose of this article is to guide nurse executives in building learning capacity within their organizations. The Organizational Learning Road Map provided is grounded in the American Organization for Nursing Leadership’s Nurse Leader Core Competencies. Key steps include: developing one’s self as a learning leader, sharing a learning-focused vision for the organization, establishing a culture of learning, charting a course toward becoming a learning organization, developing a leadership team to support learning throughout the organization, measuring progress toward the vision, and sustaining momentum.

Trends In Overall Survival Among Patients Treated For Sarcoma At A Large Tertiary Cancer Center Between 1986 And 2014, Erik Stricker, Damon R Reed, Matthew B Schabath, Pagna Sok, Michael E Scheurer, Philip J Lupo

Faculty, Staff and Students Publications

Sarcomas are relatively rare malignancies accounting for about 1% of all cancer diagnoses. Studies on sarcomas comprising large cohorts covering extended time periods are lacking. Therefore, this study aimed to evaluate the impact of demographic, behavioral, and clinical characteristics on overall survival (OS) among individuals diagnosed with soft tissue sarcoma (STS) or bone sarcoma at the Moffitt Cancer Center between 1986 and 2014. Unadjusted and multivariable Cox proportional hazard regression (CPHR) models were constructed to generate hazard ratios (HRs) and 95% confidence intervals (CIs) to evaluate associations between a range of demographic, behavioral, and clinical characteristics, and OS. Additionally, Kaplan–Meier …

Noninvasive Reflection Spectroscopy Measurement Of Skin Carotenoid Score In Infants Is Feasible And Reliable, Nancy E Moran, Jocelyn Chang, Rachel Stroh, Yusuf Zaidi, Noor Hason, Salma Musaad, Teresia O'Connor

Children’s Nutrition Research Center Staff Publications

Background: Skin carotenoid measurement by reflection spectroscopy (RS) offers a noninvasive biomarker of carotenoid intake, but feasibility, reliability, and validity are not established in infants.

Objectives: In this study we aimed to determine the feasibility and reliability of 4-mo-old infant skin carotenoid score (SCS) measurement and its correlation with total carotenoid intake and plasma concentrations.

Methods: SCSs were measured in a prospective, observational study with a modified, portable RS device at the index finger and heel of the foot in 4-mo-olds (n = 21). Infant plasma, human milk, and formula carotenoid concentrations were measured by HPLC-photodiode array, and carotenoid intake …

A Gain-Of-Function Tpc2 Variant R210c Increases Affinity To Pi(3,5)P2 And Causes Lysosome Acidification And Hypopigmentation, Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li

Faculty, Staff and Student Publications

Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify a de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore Channel 2 (TPC2) from a patient with albinism. TPC2 is an endolysosome and melanosome localized non-selective cation channel involved in regulating pigment production. Through inside-out recording of plasma membrane targeted TPC2 and direct recording of enlarged endolysosomal vacuoles, we reveal that the R210C mutant displays constitutive channel activation and markedly increased affinity to PI(3,5)P2. Mice harboring the homologous mutation, R194C, also exhibit hypopigmentation in the fur and skin, as well …

Modus Operandi Of Clc-K2 Cl- Channel In The Collecting Duct Intercalated Cells, Anna Stavniichuk, Kyrylo Pyrshev, Viktor N Tomilin, Mariya Kordysh, Oleg Zaika, Oleh Pochynyuk

Faculty, Staff and Student Publications

The renal collecting duct is known to play a critical role in many physiological processes, including systemic water-electrolyte homeostasis, acid-base balance, and the salt sensitivity of blood pressure. ClC-K2 (ClC-Kb in humans) is a Cl--permeable channel expressed on the basolateral membrane of several segments of the renal tubule, including the collecting duct intercalated cells. ClC-Kb mutations are causative for Bartters' syndrome type 3 manifested as hypotension, urinary salt wasting, and metabolic alkalosis. However, little is known about the significance of the channel in the collecting duct with respect to the normal physiology and pathology of Bartters' syndrome. In this review, …

Evolution Of Physical Training In Police Academies: Comparing Fitness Variables, Bridget Frugoli Melton, Gregory Ryan, Victor Zuege, Haresh Rochani, Derick Anglin, Joseph Dulla

Health Sciences & Kinesiology: Faculty Publications

The purpose of this study was to evaluate the effectiveness of three different physical training approaches to improving cadets’ fitness variables. Retrospective data for male and female land management law enforcement officers attending a 15-week training program at three separate time points were provided for analysis. The time points reflected the three different training approaches, including calisthenic training (CT) = 83, functional fitness training (FT) = 90, and strength training (ST) = 110. Inferential data analysis was used to find which mode of exercise had the greatest impact on body composition, cardiovascular endurance, muscular strength, agility, and flexibility. All groups …

Exploring Genetic And Neural Risk Of Specific Reading Disability Within A Nuclear Twin Family Case Study: A Translational Clinical Application, Tina Thomas, Griffin Litwin, David J Francis, Elena L Grigorenko

Faculty, Staff and Students Publications

Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to understand the similarity of imaging phenotypes between pairs. Reading-related genes and brain region phenotypes, including asymmetry indices representing the relative size of left compared to right hemispheric structures, were descriptively examined. SNPs that corresponded between the SRD siblings and not the typically developing (TD) siblings were in genes ZNF385D, LPHN3, CNTNAP2, FGF18, NOP9 …

Modernization, Collectivism, And Gender Equality Predict Love Experiences In 45 Countries, Piotr Sorokowski, Marta Kowal, Robert J Sternberg, Toivo Aavik, Grace Akello, Mohammad Madallh Alhabahba, Charlotte Alm, Naumana Amjad, Afifa Anjum, Kelly Asao, Chiemezie S Atama, Derya Atamtürk Duyar, Richard Ayebare, Daniel Conroy-Beam, Mons Bendixen, Aicha Bensafia, Boris Bizumic, Mahmoud Boussena, David M Buss, Marina Butovskaya, Seda Can, Antonin Carrier, Hakan Cetinkaya, Ilona Croy, Rosa María Cueto, Marcin Czub, Daria Dronova, Seda Dural, Izzet Duyar, Berna Ertugrul, Agustín Espinosa, Ignacio Estevan, Carla Sofia Esteves, Tomasz Frackowiak, Jorge Contreras Garduño, Karina Ugalde González, Farida Guemaz, Mária Halamová, Iskra Herak, Marina Horvat, Ivana Hromatko, Chin-Ming Hui, Jas Laile Jaafar, Feng Jiang, Konstantinos Kafetsios, Tina Kavčič, Leif Edward Ottesen Kennair, Nicolas Kervyn, Truong Thi Khanh Ha, Imran Ahmed Khilji, Nils C Köbis, Aleksandra Kostic, Hoang Moc Lan, András Láng, Georgina R Lennard, Ernesto León, Torun Lindholm, Trinh Thi Linh, Giulia Lopez, Nguyen Van Luot, Alvaro Mailhos, Zoi Manesi, Rocio Martinez, Sarah L Mckerchar, Norbert Meskó, Marija Pejičić, Girishwar Misra, Conal Monaghan, Emanuel C Mora, Alba Moya-Garófano, Bojan Musil, Jean Carlos Natividade, George Nizharadze, Elisabeth Oberzaucher, Anna Oleszkiewicz, Mohd Sofian Omar-Fauzee, Ike E Onyishi, Baris Özener, Ariela Francesca Pagani, Vilmante Pakalniskiene, Miriam Parise, Farid Pazhoohi, Annette Pisanski, Katarzyna Pisanski, Edna Ponciano, Camelia Popa, Pavol Prokop, Muhammad Rizwan, Mario Sainz, Svjetlana Salkičević, Ruta Sargautyte, Ivan Sarmány-Schuller, Susanne Schmehl, Anam Shahid, Shivantika Sharad, Razi Sultan Siddiqui, Franco Simonetti, Meri Tadinac, Christin-Melanie Vauclair, Luis Diego Vega, Kathryn V Walter, Dwi Ajeng Widarini, Gyesook Yoo, Marta Zaťková, Maja Zupančič, Agnieszka Sorokowska

Faculty, Staff and Student Publications

Recent cross-cultural and neuro-hormonal investigations have suggested that love is a near universal phenomenon that has a biological background. Therefore, the remaining important question is not whether love exists worldwide but which cultural, social, or environmental factors influence experiences and expressions of love. In the present study, we explored whether countries' modernization indexes are related to love experiences measured by three subscales (passion, intimacy, commitment) of the Triangular Love Scale. Analyzing data from 9474 individuals from 45 countries, we tested for relationships with country-level predictors, namely, modernization proxies (i.e., Human Development Index, World Modernization Index, Gender Inequality Index), collectivism, and …

African American And Caucasian Perceptions And Attitudes Toward Colorectal Cancer Screening: A Qualitative Study, Peter Warren, Stacie Pankow, Yvette Rother, Peggy Wagner

The Qualitative Report

This study examined the attitudes held by both African Americans and Caucasians regarding colorectal cancer screening and the reasons why they avoid screenings even when clinically indicated by their physicians. Colorectal cancer (CRC) is one of the most common and easily preventable types of cancer in the United States. If diagnosed and treated early prior to metastasis, the five-year colorectal cancer survival rate is approximately 90%. However, many patients avoid screening procedures for colorectal cancer due to a number of reasons. Qualitative data was gathered from focus groups and found four major themes that emerged in both groups: (1) reported …

2023-01-13_Michiganoverview_Covidbedppe, Michigan Department Of Health & Human Services

Michigan COVID-19 Hospital Data

Contains the tables Statewide Hospital Capacity Report for COVID-19, COVID-19 Metrics, Statewide Hospital Available PPE Tracking for COVID-19, as well as the tables PPE Days On Hand and Patient Census.

Racial Differences In Perceived Risk And Sunscreen Usage, Rebecca Fliorent, Alicia Podwojniak, Lianne Adolphe, Katharine Milani

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Background Although White individuals have higher incidence of melanoma, clinical outcomes are worse among patients with skin of color. This disparity arises from delayed diagnoses and treatment that are largely due to clinical and sociodemographic factors. Investigating this discrepancy is crucial to decrease melanoma-related mortality rates in minority communities. A survey was used to investigate the presence of racial disparities in perceived sun exposure risks and behaviors. Methods A survey consisting of 16 questions was deployed via social media to assess skin health knowledge. Over 350 responses were recorded, and the extracted data were analyzed using statistical software. Results Of …

The Day The Pride Of The Yankees And The Sultan Of Swat Visited Children's Mercy Hospital, Robyn Oro

Notes from the Archives

No abstract provided.

02-07-23 Hsc Committee Meeting Notice, Hsc Committtee

HSC Committee (A subcommittee of the UNM Board of Regents)

No abstract provided.

Yoga And Mindfulness For Social-Emotional Development And Resilience In 3–5 Year-Old Children: Non-Randomized, Controlled Intervention, Alessandra N. Bazzano, Yaoyao Sun, Yuanhao Zu, Julia M. Fleckman, Emma A. Blackson, Tejal Patel, Angie Shorty-Belisle, Keith H. Liederman, Cody Roi

School of Medicine Faculty Publications

Background: Early childhood is the key life course period for development of social-emotional skills, providing the foundation for school readiness and resilience in later life. Age-appropriate yoga and mindfulness programs may contribute to the development of critical skills in children. Young children from minoritized communities that face structural racism and health disparities may benefit from programs that support social-emotional development and contribute to future academic success. Systematic reviews of yoga interventions for young children have indicated the potential for effectiveness in supporting social-emotional development, executive function, and physical activity. However, studies of yoga and mindfulness with non-White children are sparse …

Mendelian Randomization Analysis Reveals A Complex Genetic Interplay Among Atopic Dermatitis, Asthma, And Gastroesophageal Reflux Disease, Kwangmi Ahn, Raymond B. Penn, Satish Rattan, Reynold A. Panettieri, Benjamin F. Voight, Steven S. An

Division of Gastroenterology and Hepatology Faculty Papers

RATIONALE: Gastroesophageal reflux disease (GERD) is commonly associated with atopic disorders, but cause-effect relationships remain unclear.

OBJECTIVES: We applied Mendelian randomization (MR) analysis to explore whether GERD is causally related to atopic disorders of the lung (asthma) and/or skin (atopic dermatitis).

METHODS: We conducted two-sample bidirectional MR to infer the magnitude and direction of causality between asthma and GERD, using summary statistics from the largest genome-wide association studies (GWAS) conducted on asthma (N_cases=56,167) and GERD (N_cases=71,522). Additionally, we generated instrumental variables (IVs) for atopic dermatitis (AD) from the latest population-level GWAS meta-analysis (N_cases=22,474) and …

Oxygenation Index In The First Three Weeks Of Life Is A Predictor Of Bronchopulmonary Dysplasia Grade In Very Preterm Infants., Fu-Sheng Chou, Rebekah M. Leigh, Srinandini S. Rao, Arvind Narang, Hung-Wen Yeh

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The new bronchopulmonary dysplasia (BPD) grading system was developed based on its correlation with long-term respiratory and neurodevelopmental outcomes and may provide better personalized prognostication. Identifying early-life predictors for accurate BPD grade prediction may allow interventions to be tailored to individual needs. This study aimed to assess whether oxygenation index (OI) dynamics in the first three weeks of life are a predictor of BPD grade.

METHODS: A single-center retrospective study was performed. Generalized additive mixed modeling was used to model OI trajectories for each BPD grade subgroup. A multinomial regression model was then developed to quantify the association between …

How The Rural Risk Environment Underpins Hepatitis C Risk: Qualitative Findings From Rural Southern Illinois, United States, Suzan M Walters, David Frank, Marisa Felsher, Jessica Jaiswal, Scott Fletcher, Alex S Bennett, Samuel R Friedman, Lawrence J Ouellet, Danielle C Ompad, Wiley Jenkins, Mai T Pho

College of Population Health Faculty Papers

Background: Hepatitis C virus (HCV) infection has increased among persons who inject drugs (PWID) in the United States with disproportionate burden in rural areas. We use the Risk Environment framework to explore potential economic, physical, social, and political determinants of hepatitis C in rural southern Illinois.

Methods: Nineteen in-depth semi-structured interviews were conducted with PWID from August 2019 through February 2020 (i.e., pre-COVID-19 pandemic) and four with key informants who professionally worked with PWID. Interviews were recorded, professionally transcribed, and coded using qualitative software. We followed a grounded theory approach for coding and analyses.

Results: We identify economic, physical, policy, …

Characteristics And Clinical Outcomes Of Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Receiving Ibrutinib For ≥5 Years In The Resonate-2 Study, Jennifer A Woyach, Paul M Barr, Thomas J Kipps, Jacqueline C Barrientos, Inhye E Ahn, Paolo Ghia, Vincent Girardi, Emily Hsu, Mandy Jermain, Jan A Burger

Faculty, Staff and Student Publications

Primary results from the phase 3 RESONATE-2 study demonstrated superior efficacy and tolerability with ibrutinib versus chlorambucil in patients with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). Here, we describe characteristics and outcomes of patients who received ibrutinib treatment for ≥5 years in RESONATE-2. Patients aged ≥65 years with previously untreated CLL/SLL, without del(17p), were randomly assigned 1:1 to once-daily ibrutinib 420 mg until disease progression/unacceptable toxicity (n = 136) or chlorambucil 0.5−0.8 mg/kg for ≤12 cycles (n = 133). Baseline characteristics in ibrutinib-randomized patients (n = 136) were generally similar between patients on ibrutinib treatment for ≥5 years (n …

Clonal Hematopoiesis And Risk Of Prostate Cancer In Large Samples Of European Ancestry Men, Anqi Wang, Yili Xu, Yao Yu, Kevin T Nead, Taebeom Kim, Keren Xu, Tokhir Dadaev, Ed Saunders, Xin Sheng, Peggy Wan, Loreall Pooler, Lucy Y Xia, Stephen Chanock, Sonja I Berndt, Susan M Gapstur, Victoria Stevens, Demetrius Albanes, Stephanie J Weinstein, Vincent Gnanapragasam, Graham G Giles, Tu Nguyen-Dumont, Roger L Milne, Mark M Pomerantz, Julie A Schmidt, Konrad H Stopsack, Lorelei A Mucci, William J Catalona, Kurt N Hetrick, Kimberly F Doheny, Robert J Macinnis, Melissa C Southey, Rosalind A Eeles, Fredrik Wiklund, Zsofia Kote-Jarai, Adam J De Smith, David V Conti, Chad Huff, Christopher A Haiman, Burcu F Darst

Faculty, Staff and Student Publications

Little is known regarding the potential relationship between clonal hematopoiesis (CH) of indeterminate potential (CHIP), which is the expansion of hematopoietic stem cells with somatic mutations, and risk of prostate cancer, the fifth leading cause of cancer death of men worldwide. We evaluated the association of age-related CHIP with overall and aggressive prostate cancer risk in two large whole-exome sequencing studies of 75 047 European ancestry men, including 7663 prostate cancer cases, 2770 of which had aggressive disease, and 3266 men carrying CHIP variants. We found that CHIP, defined by over 50 CHIP genes individually and in aggregate, was not …

Closed-Loop Modeling Of Central And Intrinsic Cardiac Nervous System Circuits Underlying Cardiovascular Control, Michelle M. Gee, Abraham M. Lenhoff, James S. Schwaber, Babatunde A. Ogunnaike, Rajanikanth Vadigepalli

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The baroreflex is a multi-input, multi-output physiological control system that regulates blood pressure by modulating nerve activity between the brainstem and the heart. Existing computational models of the baroreflex do not explicitly incorporate the intrinsic cardiac nervous system (ICN), which mediates central control of heart function. We developed a computational model of closed-loop cardiovascular control by integrating a network representation of the ICN within central control reflex circuits. We examined central and local contributions to the control of heart rate, ventricular functions, and respiratory sinus arrhythmia (RSA). Our simulations match the experimentally observed relationship between RSA and lung tidal volume. …

Persistent Fdg Uptake At Apical Aneurysm In A Patient With Cardiac Sarcoidosis, Chaitanya Rojulpote, Shivaraj Patil, Mahesh K. Vidula, Robert Kotloff, Stuart Prenner, Paco E. Bravo

Einstein Health Papers

We present a case of cardiac sarcoidosis with persistent, focal fluorodeoxyglucose uptake at the left ventricular apical aneurysm concerning for ongoing active inflammatory injury, prompting aggressive immunosuppressive therapy. This case highlights the importance of understanding the various clinical entities that may resemble disease activity on fluorodeoxyglucose positron emission tomography/computed tomography imaging. (Level of Difficulty: Intermediate.)

Only One Cluster Per Condition Is An Invalid Design For A Cluster Randomized Trial And Should Be Re-Labeled A Quasi-Experimental Study Response To: “Effect Of Behavioral Activation On Time And Frequency Domain Heart Rate Variability In Older Adults With Subthreshold Depression: A Cluster Randomized Controlled Trial In Thailand”, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Abu Bakkar Siddique, Colby J Vorland, David B Allison

Children’s Nutrition Research Center Staff Publications

Ayudhaya et al. examined the effect of Behavioral Activation on daily step count and heart rate variability among older adults with depression in a study labeled a cluster randomized controlled trial (cRCT). However, only one cluster was assigned to either of the study conditions. Such a design would have zero degrees of freedom for inferential testing, because the variation due to cluster membership cannot be estimated apart from the variation due to treatment assignment. Thus, the intervention effect is completely confounded with the cluster effect. The study should be labeled a quasi-experimental study, not a cRCT. Accordingly, the numerical results …

Transmission Of Carbapenem-Resistant Klebsiella Pneumoniae In Us Hospitals, Courtney L Luterbach, Liang Chen, Lauren Komarow, Belinda Ostrowsky, Keith S Kaye, Blake Hanson, Cesar A Arias, Samit Desai, Jason C Gallagher, Elizabeth Novick, Stephen Pagkalinawan, Ebbing Lautenbach, Glenn Wortmann, Robert C Kalayjian, Brandon Eilertson, John J Farrell, Todd Mccarty, Carol Hill, Vance G Fowler, Barry N Kreiswirth, Robert A Bonomo, David Van Duin

Faculty, Staff and Student Publications

BACKGROUND: Carbapenem-resistant Klebsiella pneumoniae (CRKp) is the most prevalent carbapenem-resistant Enterobacterales in the United States. We evaluated CRKp clustering in patients in US hospitals.

METHODS: From April 2016 to August 2017, 350 patients with clonal group 258 CRKp were enrolled in the Consortium on Resistance Against Carbapenems in Klebsiella and other Enterobacteriaceae, a prospective, multicenter, cohort study. A maximum likelihood tree was constructed using RAxML. Static clusters shared ≤21 single-nucleotide polymorphisms (SNP) and a most recent common ancestor. Dynamic clusters incorporated SNP distance, culture timing, and rates of SNP accumulation and transmission using the R program TransCluster.

RESULTS: Most patients …

Excessive Mechanotransduction In Sensory Neurons Causes Joint Contractures, Shang Ma, Adrienne E Dubin, Luis O Romero, Meaghan Loud, Alexandra Salazar, Sarah Chu, Nikola Klier, Sameer Masri, Yunxiao Zhang, Yu Wang, Alex T Chesler, Katherine A Wilkinson, Valeria Vásquez, Kara L Marshall, Ardem Patapoutian

Faculty, Staff and Student Publications

Distal arthrogryposis (DA) is a collection of rare disorders that are characterized by congenital joint contractures. Most DA mutations are in muscle- and joint-related genes, and the anatomical defects originate cell-autonomously within the musculoskeletal system. However, gain-of-function mutations in PIEZO2, a principal mechanosensor in somatosensation, cause DA subtype 5 (DA5) through unknown mechanisms. We show that expression of a gain-of-function PIEZO2 mutation in proprioceptive sensory neurons that mainly innervate muscle spindles and tendons is sufficient to induce DA5-like phenotypes in mice. Overactive PIEZO2 causes anatomical defects through increased activity within the peripheral nervous system during postnatal development. Furthermore, botulinum toxin …

Expansion And Mechanistic Insights Into De Novo Deaf1 Variants In Deaf1-Associated Neurodevelopmental Disorders, Stacey R Mcgee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C Caylor, Roger E Stevenson, Caio Robledo D' Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer M Bain, Kwame Anyane-Yeboa, Kaitlyn Brown, John M Greally, Emilia K Bijlsma, Claudia A L Ruivenkamp, Keren Politi, Lydia A Arbogast, Michael W Collard, Jodi I Huggenvik, Sarah H Elsea, Philip J Jensik

Faculty, Staff and Students Publications

De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND). RNA-sequencing using hippocampal RNA from mice with conditional deletion of Deaf1 in the central nervous system indicate that loss of Deaf1 activity results in the altered expression of genes involved in neuronal function, dendritic spine maintenance, development, and activity, with reduced dendritic spines in hippocampal regions. Since DEAF1 is not a dosage-sensitive gene, we assessed the dominant negative activity of previously identified de novo variants …

Discovery Of Associative Patterns Between Workplace Sound Level And Physiological Wellbeing Using Wearable Devices And Empirical Bayes Modeling, Karthik Srinivasan, Faiz Currim, Casey M Lindberg, Javad Razjouyan, Brian Gilligan, Hyoki Lee, Kelli J Canada, Nicole Goebel, Matthias R Mehl, Melissa M Lunden, Judith Heerwagen, Bijan Najafi, Esther M Sternberg, Kevin Kampschroer, Sudha Ram

Center on Aging Staff Publications

We conducted a field study using multiple wearable devices on 231 federal office workers to assess the impact of the indoor environment on individual wellbeing. Past research has established that the workplace environment is closely tied to an individual's wellbeing. Since sound is the most-reported environmental factor causing stress and discomfort, we focus on quantifying its association with physiological wellbeing. Physiological wellbeing is represented as a latent variable in an empirical Bayes model with heart rate variability measures-SDNN and normalized-HF as the observed outcomes and with exogenous factors including sound level as inputs. We find that an individual's physiological wellbeing …

Outcomes Of The 2019 Hydrocephalus Association Workshop, "Driving Common Pathways: Extending Insights From Posthemorrhagic Hydrocephalus", Jason K Karimy, Jessie C Newville, Cameron Sadegh, Jill A Morris, Edwin S Monuki, David D Limbrick, James P Mcallister Ii, Jenna E Koschnitzky, Maria K Lehtinen, Lauren L Jantzie

2020-Current year OA Pubs

The Hydrocephalus Association (HA) workshop, Driving Common Pathways: Extending Insights from Posthemorrhagic Hydrocephalus, was held on November 4 and 5, 2019 at Washington University in St. Louis. The workshop brought together a diverse group of basic, translational, and clinical scientists conducting research on multiple hydrocephalus etiologies with select outside researchers. The main goals of the workshop were to explore areas of potential overlap between hydrocephalus etiologies and identify drug targets that could positively impact various forms of hydrocephalus. This report details the major themes of the workshop and the research presented on three cell types that are targets for new …