Medicine and Health Sciences Commons^™

Ambivalence In How To Address Adolescent Marijuana Use Among School-Based Health Center Providers, Rachel A. Sebastian, Lara M. Gunderson, Cathleen E. Willging, Mary M. Ramos

2020 Pediatric Research Forum Session

Objective:

As part of a larger study to evaluate the implementation of Screening, Brief Intervention, and Referral to Treatment (SBIRT) at school-based health centers (SBHCs), we interviewed SBHC providers regarding their perceptions of substance use among adolescents seen at their SBHCs, experiences providing care for students with substance use and other mental health issues, and their concerns around marijuana specifically.

Methods:

We interviewed 12 primary and behavioral health providers who worked at five SBHCs in New Mexico. The interviews lasted approximately 1 hour and were digitally recorded and professionally transcribed. Two research team members independently analyzed the transcripts. We undertook …

Fat And Fat-Free Mass Index References In Children And Young Adults: Assessments Along Racial And Ethnic Lines, Roman J Shypailo, William W Wong

Children’s Nutrition Research Center Staff Publications

Background: Fat-free mass index (FFMI) and fat mass index (FMI) are superior to BMI and fat percentage in evaluating nutritional status. However, existing references fail to account for racial/ethnic differences in body composition among children.

Objectives: Our goal was to produce age-based normative references for FFMI and FMI in children for specific racial/ethnic groups.

Methods: Body composition, weight, and height were measured in 1122 normal healthy children aged 2-21 y. Bone mineral content measured by DXA, total body water by deuterium dilution, and total body potassium by whole-body γ counting were combined to calculate fat-free mass (FFM) and fat mass …

Nine-Year Prospective Efficacy And Safety Of Brain-Responsive Neurostimulation For Focal Epilepsy., Dileep R Nair, Kenneth D Laxer, Peter B Weber, Anthony M Murro, Yong D Park, Gregory L Barkley, Brien J Smith, Ryder P Gwinn, Michael J Doherty, Katherine H Noe, Richard S Zimmerman, Gregory K Bergey, William S Anderson, Christianne Heck, Charles Y Liu, Ricky W Lee, Toni Sadler, Robert B Duckrow, Lawrence J Hirsch, Robert E Wharen, William Tatum, Shraddha Srinivasan, Guy M Mckhann, Mark A Agostini, Andreas V Alexopoulos, Barbara C Jobst, David W Roberts, Vicenta Salanova, Thomas C Witt, Sydney S Cash, Andrew J Cole, Gregory A Worrell, Brian N Lundstrom, Jonathan C Edwards, Jonathan J Halford, David C Spencer, Lia Ernst, Christopher T Skidmore, Michael R Sperling, Ian Miller, Eric B Geller, Michel J Berg, A James Fessler, Paul Rutecki, Alica M Goldman, Eli M Mizrahi, Robert E Gross, Donald C Shields, Theodore H Schwartz, Douglas R Labar, Nathan B Fountain, W Jeff Elias, Piotr W Olejniczak, Nicole R Villemarette-Pittman, Stephan Eisenschenk, Steven N Roper, Jane G Boggs, Tracy A Courtney, Felice T Sun, Cairn G Seale, Kathy L Miller, Tara L Skarpaas, Martha J Morrell, Rns System Ltt Study

Neuroscience Articles

OBJECTIVE: To prospectively evaluate safety and efficacy of brain-responsive neurostimulation in adults with medically intractable focal onset seizures (FOS) over 9 years.

METHODS: Adults treated with brain-responsive neurostimulation in 2-year feasibility or randomized controlled trials were enrolled in a long-term prospective open label trial (LTT) to assess safety, efficacy, and quality of life (QOL) over an additional 7 years. Safety was assessed as adverse events (AEs), efficacy as median percent change in seizure frequency and responder rate, and QOL with the Quality of Life in Epilepsy (QOLIE-89) inventory.

RESULTS: Of 256 patients treated in the initial trials, 230 participated in …

Reliability And Validity Of The English Version Of The Aospine Prost (Patient Reported Outcome Spine Trauma), Said Sadiqi, Marcel F Dvorak, Alex R. Vaccaro, Gregory D. Schroeder, Marcel W Post, Lorin M Benneker, Frank Kandziora, S Rajasekaran, Klaus J Schnake, Emiliano N Vialle, F Cumhur Oner

Department of Orthopaedic Surgery Faculty Papers

STUDY DESIGN: Multicenter validation study.

OBJECTIVE: The aim of this study was to translate and adapt the AOSpine PROST (Patient Reported Outcome Spine Trauma) into English, and test its psychometric properties among North-American spine trauma patients.

SUMMARY OF BACKGROUND DATA: In the absence of an outcome instrument specifically designed and validated for traumatic spinal column injury patients, it is difficult to measure the effect size of various treatment options. The AOSpine Knowledge Forum Trauma initiated a project and developed the AOSpine PROST consisting of 19 items.

METHODS: Patients were recruited from two level-1 North-American trauma centers. For concurrent validity, next …

Parental Intent To Initiate And Complete The Human Papillomavirus Vaccine Series In The Usa: A Nationwide, Cross-Sectional Survey, Kalyani Sonawane, Yenan Zhu, Jane R Montealegre, David R Lairson, Cici Bauer, Lindy U Mcgee, Anna R Giuliano, Ashish A Deshmukh

Faculty, Staff and Student Publications

BACKGROUND: Human papillomavirus (HPV) vaccine uptake among US adolescents is primarily dependent on the intent of their parents. to the best of our knowledge, an analysis quantifying parental intent to initiate and complete the HPV vaccine series in the USA at both the national and state level has not been done. We aim to estimate parental intent to initiate and complete the HPV vaccine series at the national-level and state-level and to identify reasons for lack of intent to initiate and complete the vaccine series.

METHODS: This cross-sectional study uses data from the adolescent component of the 2017-18 National Immunization …

Nine-Year Prospective Efficacy And Safety Of Brain-Responsive Neurostimulation For Focal Epilepsy, Dileep R Nair, Kenneth D Laxer, Peter B Weber, Anthony M Murro, Yong D Park, Gregory L Barkley, Brien J Smith, Ryder P Gwinn, Michael J Doherty, Katherine H Noe, Richard S Zimmerman, Gregory K Bergey, William S Anderson, Christianne Heck, Charles Y Liu, Ricky W Lee, Toni Sadler, Robert B Duckrow, Lawrence J Hirsch, Robert E Wharen, William Tatum, Shraddha Srinivasan, Guy M Mckhann, Mark A Agostini, Andreas V Alexopoulos, Barbara C Jobst, David W Roberts, Vicenta Salanova, Thomas C Witt, Sydney S Cash, Andrew J Cole, Gregory A Worrell, Brian N Lundstrom, Jonathan C Edwards, Jonathan J Halford, David C Spencer, Lia Ernst, Christopher T Skidmore, Michael R Sperling, Ian Miller, Eric B Geller, Michel J Berg, A James Fessler, Paul Rutecki, Alica M Goldman, Eli M Mizrahi, Robert E Gross, Donald C Shields, Theodore H Schwartz, Douglas R Labar, Nathan B Fountain, W Jeff Elias, Piotr W Olejniczak, Nicole R Villemarette-Pittman, Stephan Eisenschenk, Steven N Roper, Jane G Boggs, Tracy A Courtney, Felice T Sun, Cairn G Seale, Kathy L Miller, Tara L Skarpaas, Martha J Morrell, Rns System Ltt Study

Faculty, Staff and Students Publications

OBJECTIVE: To prospectively evaluate safety and efficacy of brain-responsive neurostimulation in adults with medically intractable focal onset seizures (FOS) over 9 years.

METHODS: Adults treated with brain-responsive neurostimulation in 2-year feasibility or randomized controlled trials were enrolled in a long-term prospective open label trial (LTT) to assess safety, efficacy, and quality of life (QOL) over an additional 7 years. Safety was assessed as adverse events (AEs), efficacy as median percent change in seizure frequency and responder rate, and QOL with the Quality of Life in Epilepsy (QOLIE-89) inventory.

RESULTS: Of 256 patients treated in the initial trials, 230 participated in …

Aadc Deficiency From Infancy To Adulthood: Symptoms And Developmental Outcome In An International Cohort Of 63 Patients, Toni S Pearson, Laura Gilbert, Kathleen D Meeks, Et Al.

2020-Current year OA Pubs

Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and/or caregiver responses to a detailed, standardized questionnaire. Sixty-three patients (60% female; ages 6 months-36 years, median 7 years; 58 living) from 23 individual countries participated. Common symptoms at onset (median age 3 months, range 0-12 months) were hypotonia, developmental delay, and/or oculogyric crises. Oculogyric crises …

Non-Obstetric Vulvar/Paravaginal Hematoma In An Adolescent Female With Scleroderma: An Opportunity For Intimate Partner Violence Intervention, Amanda Burnham, Jo Cooke-Barber, Stephen Thacker, Donna Evans, David Carney, William Boswell

HCA Healthcare Journal of Medicine

A 15-year-old female presented to the emergency department with swelling and pain in her left labial region as well as urinary retention after intercourse. This was the patient’s first time having sexual intercourse and the patient stated that her boyfriend “kneed” her in the labia. A CT scan of the pelvis revealed a large vulvar/external hematoma measuring 6 x 10 x 7 cm which extended into the vaginal vault. This case is the first of a vulvar hematoma reported in a pediatric patient with scleroderma. This case was complicated by the fact that our patient claimed her boyfriend intentionally “kneed” …

Bahamas National Implementation Project: Proposal For Sustainability Of An Evidence-Based Hiv Prevention Intervention In A School Setting, Bo Wang, Lynette Deveaux, Sonja Lunn, Veronica Dinaj-Koci, Samiran Ghosh, Xiaoming Li, Sharon Marshall, Glenda Rolle, Nikkiah Forbes, Bonita Stanton

Faculty, Staff and Student Publications

BACKGROUND: Sustained implementation of school-based prevention programs is low. Effective strategies are needed to enhance both high-level implementation fidelity and sustainability of prevention programs.

OBJECTIVE: This proposed study aims to determine if the provision of either biweekly monitoring and feedback and site-based assistance and mentorship or both to at-risk and moderate-performing teachers with monitoring through an enhanced decision-making platform by the Ministry of Education (MOE) and Ministry of Health (MOH) based on the real-time implementation data will increase national implementation fidelity and result in sustained implementation over time.

METHODS: This study will target government schools including 200 grade 6 teachers …

Periacetabular Osteotomy With Or Without Arthroscopic Management In Patients With Hip Dysplasia: Study Protocol For A Multicenter Randomized Controlled Trial, Geoffrey P Wilkin, Stéphane Poitras, John Clohisy, Etienne Belzile, Ira Zaltz, George Grammatopoulos, Gerd Melkus, Kawan Rakhra, Tim Ramsay, Kednapa Thavorn, Paul E Beaulé

2020-Current year OA Pubs

BACKGROUND: Hip dysplasia is one of the most common causes of hip arthritis. Its incidence is estimated to be between 3.6 and 12.8% (Canadian Institute for Health Information, Hip and knee replacements in Canada, 2017-2018: Canadian joint replacement registry annual report, 2019; Jacobsen and Sonne-Holm, Rheumatology 44:211-8, 2004). The Periacetabular Osteotomy (PAO) has been used successfully for over 30 years (Gosvig et al., J Bone Joint Surg Am 92:1162-9, 2010), but some patients continue to exhibit symptoms post-surgery (Wyles et al., Clin Orthop Relat Res 475:336-50, 2017). A hip arthroscopy, performed using a small camera, allows surgeons to address torn …

Removal Of High Frequency Contamination From Motion Estimates In Single-Band Fmri Saves Data Without Biasing Functional Connectivity, Caterina Gratton, Ally Dworetsky, Rebecca S Coalson, Babatunde Adeyemo, Timothy O Laumann, Deanna M Barch, Nico U F Dosenbach, Abraham Z Snyder, Joel S Perlmutter, Steven E Petersen, Meghan C Campbell, Et Al.

2020-Current year OA Pubs

Denoising fMRI data requires assessment of frame-to-frame head motion and removal of the biases motion introduces. This is usually done through analysis of the parameters calculated during retrospective head motion correction (i.e., 'motion' parameters). However, it is increasingly recognized that respiration introduces factitious head motion via perturbations of the main (B0) field. This effect appears as higher-frequency fluctuations in the motion parameters (>0.1 ​Hz, here referred to as 'HF-motion'), primarily in the phase-encoding direction. This periodicity can sometimes be obscured in standard single-band fMRI (TR 2.0-2.5 ​s) due to aliasing. Here we examined (1) how prevalent HF-motion effects are …

Gut Microbiota Features Associated With Campylobacter Burden And Postnatal Linear Growth Deficits In A Peruvian Birth Cohort, Saba Rouhani, Nicholas W Griffin, Pablo Peñataro Yori, Maribel Paredes Olortegui, Mery Siguas Salas, Dixner Rengifo Trigoso, Lawrence H Moulton, Eric R Houpt, Michael J Barratt, Margaret N Kosek, Jeffrey I Gordon

2020-Current year OA Pubs

BACKGROUND: Campylobacter infection is associated with impaired growth of children, even in the absence of symptoms. To examine the underlying mechanisms, we evaluated associations between Campylobacter infection, linear growth, and fecal microbial community features in a prospective birth cohort of 271 children with a high burden of diarrhea and stunting in the Amazonian lowlands of Peru.

METHODS: Campylobacter was identified using a broadly reactive, genus-specific enzyme-linked immunosorbent assay. 16S rRNA-based analyses were used to identify bacterial taxa in fecal samples at ages 6, 12, 18, and 24 months (N = 928). Associations between infection, growth, and gut microbial community composition …

Diarrhea As A Potential Cause And Consequence Of Reduced Gut Microbial Diversity Among Undernourished Children In Peru, Saba Rouhani, Nicholas W Griffin, Pablo Peñataro Yori, Jeanette L Gehrig, Maribel Paredes Olortegui, Mery Siguas Salas, Dixner Rengifo Trigoso, Lawrence H Moulton, Eric R Houpt, Michael J Barratt, Margaret N Kosek, Jeffrey I Gordon

2020-Current year OA Pubs

BACKGROUND: Detrimental effects of diarrhea on child growth and survival are well documented, but details of the underlying mechanisms remain poorly understood. Recent evidence demonstrates that perturbations to normal development of the gut microbiota in early life may contribute to growth faltering and susceptibility to related childhood diseases. We assessed associations between diarrhea, gut microbiota configuration, and childhood growth in the Peruvian Amazon.

METHODS: Growth, diarrhea incidence, illness, pathogen infection, and antibiotic exposure were assessed monthly in a birth cohort of 271 children aged 0-24 months. Gut bacterial diversity and abundances of specific bacterial taxa were quantified by sequencing 16S …

An Evidence-Based Approach To Understanding And Treating Electronic Cigarette Use In The Adolescent Population, Adelaide Amini

Student Works

ABSTRACT

An Evidence-Based Approach to Understanding and Treating Electronic Cigarette Use in the Adolescent Population

Adelaide Laurel Amini College of Nursing, BYU Master of Science

Electronic cigarette (e-cigarette) use is popular among adolescents and leads to high levels of nicotine exposure in this population. E-cigarette use by teenagers can lead to development of nicotine addiction, chronic lung disorders, and lifelong incidence of depression, anxiety, and attention-deficit disorder. Thus, it is vital that nurse practitioners understand electronic cigarette devices and their effects on adolescent health, as well as treatment guidelines regarding nicotine dependence specific to e-cigarettes. An educational module detailing the …

The Impact Of Bullying Victimization And Sexual Orientation On The Severity Of Suicidal Behavior, Annalyn Demello

Dissertations and Theses (Open Access)

Background: Lesbian, gay, and bisexual (LGB) youth face a disproportionate risk of suicidal ideation and attempt compared to their heterosexual counterparts. The Minority Stress Theory and Interpersonal Theory of Suicide posit that chronic stress, which can occur as a result of bullying victimization, can lead to loneliness, self-hate, and suicidal ideation. The escalation from ideation to attempt can occur quickly, and most youth who survive suicide attempts pursue subsequent, riskier attempts. It is crucial to intervene when behaviors are less severe. The primary aim of this study was to compare the magnitudes of association between independent variables (bullying and sexual …

Mechanical Prosthetic Valve Sparing For Aortic Root Abscess Complicated By Infective Endocarditis, Ahmed Ahmed, Ayman Ammar, Yasser Elnahas, Mohammed Abd Al Jawad

The Texas Heart Institute Journal

Aortic root abscess complicated by infective endocarditis of a mechanical prosthetic valve is associated with morbidity and death. We retrospectively report our experience with a valve-sparing technique for managing this condition.

From October 2014 through November 2017, 41 patients at our center underwent surgery for aortic root abscess complicated by infective endocarditis of a mechanical prosthetic valve. Twenty (48.7%) met prespecified criteria for use of our valve-sparing technique after careful assessment of the mechanical valve and surrounding tissues. Our technique involved draining the abscess, aggressively débriding all infected and necrotic tissues, and then repairing the resulting defect by suturing a …

Real-World Cost Of Treatment For Multiple Sclerosis Patients Initiating And Receiving Infused Disease-Modifying Therapies Per Recommended Label In The United States., Jacqueline Nicholas, Rachel Halpern, Marina Ziehn, Jesse Peterson-Brandt, Michael Leszko, Chinmay Deshpande

Neuroscience Articles

Aims: The study evaluated the real-world cost of treatment in multiple sclerosis (MS) patients initiating infused disease-modifying-therapies (DMT) in the United States.Materials and Methods: This retrospective cohort study using administrative claims data included adult patients with MS initiating index infusion DMT (ocrelizumab (OCR), natalizumab (NTZ) or alemtuzumab (ATZ)) from April 2017-September 2018 with 6-months pre/12-months post-index continuous enrollment. The primary cohort included patients who had prescribed annual dosing visits indicated by the approved product label (PL): 3 OCR, 5 ATZ, and 12-13 NTZ infusion visits within the first year of initiation. Annual treatment cost was the sum of all …

Whole Exome Sequencing In Patients With Williams-Beuren Syndrome Followed By Disease Modeling In Mice Points To Four Novel Pathways That May Modify Stenosis Risk, Phoebe C R Parrish, Delong Liu, Russell H Knutsen, Charles J Billington, Robert P Mecham, Yi-Ping Fu, Beth A Kozel

2020-Current year OA Pubs

Supravalvular aortic stenosis (SVAS) is a narrowing of the aorta caused by elastin (ELN) haploinsufficiency. SVAS severity varies among patients with Williams-Beuren syndrome (WBS), a rare disorder that removes one copy of ELN and 25-27 other genes. Twenty percent of children with WBS require one or more invasive and often risky procedures to correct the defect while 30% have no appreciable stenosis, despite sharing the same basic genetic lesion. There is no known medical therapy. Consequently, identifying genes that modify SVAS offers the potential for novel modifier-based therapeutics. To improve statistical power in our rare-disease cohort (N = 104 exomes), …

The Role Of Parent Self-Regulation In Youth Type 1 Diabetes Management., Katherine W Bauer, Marisa E Hilliard, Dana K. Albright Phd, Sharon L Lo, Emily M. Fredericks, Alison L Miller

Health Services and Informatics Research

PURPOSE OF REVIEW: Youth with strong self-regulation (SR), or the ability to manage thoughts, emotions, and behaviors, engage in more effective type 1 diabetes (T1D) management. However, while parent support and engagement are critical to ensuring positive youth T1D outcomes, it is rarely considered that parents' SR may also influence youth T1D management. If this is the case, novel interventions to improve parents' SR or ensure adequate support for parents with SR challenges offer great potential to improve family functioning and youth T1D management.

RECENT FINDINGS: Theoretical and preliminary empirical evidence suggests that parental SR impacts family processes that support …

Screening And Treatment Outcomes In Adults And Children With Type 1 Diabetes And Asymptomatic Celiac Disease: The Cd-Diet Study., Farid H Mahmud, Antoine B M Clarke, Kariym C Joachim, Esther Assor, Charlotte Mcdonald, Fred Saibil, Heather A Lochnan, Zubin Punthakee, Amish Parikh, Andrew Advani, Baiju R Shah, Bruce A Perkins, Caroline S Zuijdwijk, David R Mack, Dror Koltin, Emilia N De Melo, Eugene Hsieh, Geetha Mukerji, Jeremy Gilbert, Kevin Bax, Margaret L Lawson, Maria Cino, Melanie D Beaton, Navaaz A Saloojee, Olivia Lou, Patricia H Gallego, Premysl Bercik, Robyn L Houlden, Ronnie Aronson, Susan E Kirsch, William G Paterson, Margaret A Marcon

Paediatrics Publications

OBJECTIVE: To describe celiac disease (CD) screening rates and glycemic outcomes of a gluten-free diet (GFD) in patients with type 1 diabetes who are asymptomatic for CD.

RESEARCH DESIGN AND METHODS: Asymptomatic patients (8-45 years) were screened for CD. Biopsy-confirmed CD participants were randomized to GFD or gluten-containing diet (GCD) to assess changes in HbA

RESULTS: Adults had higher CD-seropositivity rates than children (6.8% [95% CI 4.9-8.2%,

CONCLUSIONS: CD is frequently observed in asymptomatic patients with type 1 diabetes, and clinical vigilance is warranted with initiation of a GFD.

On The Nature Of Monozygotic Twin Concordance And Discordance For Autistic Trait Severity: A Quantitative Analysis, Lauren Castelbaum, Chad M Sylvester, Yi Zhang, Qiongru Yu, John N Constantino

2020-Current year OA Pubs

The characterizing features of autism spectrum disorder (ASD) are continuously distributed in nature; however, prior twin studies have not systematically incorporated this knowledge into estimations of concordance and discordance. We conducted a quantitative analysis of twin-twin similarity for autistic trait severity in three existing data sets involving 366 pairs of uniformly-phenotyped monozygotic (MZ) twins with and without ASD. Probandwise concordance for ASD was 96%; however, MZ trait correlations differed markedly for pairs with ASD trait burden below versus above the threshold for clinical diagnosis, with R

Can The Contralateral Knee Effectively Estimate Pre-Injury Patellar Height? A Control Study, Benjamin Albertson, Andrew Ockuly, Ian Fletcher, Daniel Wascher

Western Journal of Orthopaedics

Introduction: Patellar height abnormalities have been associated with patellar instability, which is common among adolescents and young adults. Pre-injury patellar height is often unknown in patients with a patellar instability episode. The purpose of this study was to determine whether patellar height of one knee could effectively estimate patellar height of the contralateral knee in control patients between the ages of 13 and 25 years. Methods: A retrospective chart review was conducted to identify 40 patients who obtained bilateral knee radiographs with no prior surgical intervention or diagnosis of injury to the extensor mechanism. CatonDeschamps Index (CDI) was measured by …

Vitamin A And Fish Oils For Preventing The Progression Of Retinitis Pigmentosa., Stephen G. Schwartz, Xue Wang, Pamela Chavis, Ajay E. Kuriyan, Samuel A. Abariga

Wills Eye Hospital Papers

BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. It results in severe visual loss that may lead to blindness. Symptoms may become manifest during childhood or adulthood which include poor night vision (nyctalopia) and constriction of peripheral vision (visual field loss). Visual field loss is progressive and affects central vision later in the disease course. The worldwide prevalence of RP is approximately 1 in 4000, with 100,000 individuals affected in the USA. At this time, there is no proven therapy for RP.

OBJECTIVES: The objective of this review was to …

Highlights Of Studies In Cardiovascular Disease Prevention Presented At The 2020 American College Of Cardiology Annual Scientific Session, Xiaoming Jia, Mahmoud Al Rifai, Jing Liu, Anandita Agarwala, Martha Gulati, Salim S Virani

Faculty, Staff and Students Publications

PURPOSE OF REVIEW: The review highlights selected studies related to cardiovascular disease (CVD) prevention that were presented at the American College of Cardiology 2020 Virtual Scientific Session (ACC.20)/World Cardiology Congress (WCC).

RECENT FINDINGS: The studies reviewed include clinical trials on the efficacy and safety of alirocumab (Study in Participants with Homozygous Familial Hypercholesterolemia [ODYSSEY HoFH]) and evinacumab in the treatment of homozygous familial hypercholesterolemia (HoFH); Evaluating the Efficacy of E-cigarettes for Smoking Cessation (E3); the use of renal denervation in the treatment of hypertension (SPYRAL HTN-OFF MED PIVOTAL); and the assessment of vericiguat in the treatment of heart failure (A …

A Genome-Wide Association Study Identifies Two Novel Susceptible Regions For Squamous Cell Carcinoma Of The Head And Neck, Sanjay Shete, Hongliang Liu, Jian Wang, Robert Yu, Erich M Sturgis, Guojun Li, Kristina R Dahlstrom, Zhensheng Liu, Christopher I Amos, Qingyi Wei

Faculty, Staff and Students Publications

To identify genetic variants for risk of squamous cell carcinoma of the head and neck (SCCHN), we conducted a two-phase genome-wide association study consisting of 7,858,089 SNPs in 2,171 cases and 4,493 controls of non-Hispanic white, of which 434,839 typed and 7,423,250 imputed SNPs as the discovery. SNPs with P <1×10–3 were further validated in the OncoArray study of oral and pharynx cancer (5,205 cases and 3,232 controls of European ancestry) from dbGaP. Meta-analysis of the discovery and replication studies identified one novel locus 6p22.1 (P = 2.96×10–9 for the leading rs259919) and two cancer susceptibility loci 6p21.32 (rs3135001, HLA-DQB1) and 6p21.33 (rs1265081, CCHCR1) associated with SCCHN risk. Further stratification by tumor site revealed four known cancer loci (5p15.33, 6p21.32, 6p21.33, and 2p23.1) associated with oral cavity cancer risk and oropharyngeal cancer risk, respectively. In addition, one novel locus 18q22.2 (P = 2.54×10–9 for the leading SNP rs142021700) was identified for hypo-pharynx and larynx cancer risk. For SNPs in those reported or novel loci, we also performed functional annotations by bioinformatics prediction and eQTL analysis. Collectively, our identification of four reported loci (2p23.1, 5p15.33, 6p21.32, and 6p21.33) and two novel loci (6p22.1 and 18q22.2) for SCCHN risk highlight the importance of HLA loci for oropharyngeal cancer risk, suggesting that immunologic mechanisms are implicated in the etiology of this subset of SCCHN.

Prevalence And Clinical Features Of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified By Whole-Exome Sequencing In 1000 Children At A Single Center, Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang

Paediatrics Publications

BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD.

METHODS: We performed whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0-18 years (median age at diagnosis, 11.96 years) at a single center in Canada and their family members (2305 samples total). Variants believed to cause IBD were validated using Sanger sequencing. Biopsies from patients were analyzed by immunofluorescence and …

Wolff-Parkinson-White Syndrome: De Novo Variants And Evidence For Mutational Burden In Genes Associated With Atrial Fibrillation, Zeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, Ingrid S Paine, Jaya Punetha, Christopher M Grochowski, Tomasz Gambin, Santiago O Valdes, Bryan Cannon, Gladys Zapata, Patricia P Hernandez, Shalini Jhangiani, Harsha Doddapaneni, Jianhong Hu, Fatima Boricha, Donna M Muzny, Eric Boerwinkle, Yaping Yang, Richard A Gibbs, Jennifer E Posey, Xander H T Wehrens, John W Belmont, Jeffrey J Kim, Christina Y Miyake, James R Lupski, Seema R Lalani

Faculty, Staff and Student Publications

BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is a relatively common arrhythmia affecting ~1-3/1,000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in individuals with a structurally normal heart remains poorly understood. Sudden death due to atrial fibrillation (AF) can also occur in these individuals. Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients compared to general population.

METHODS: We applied exome sequencing in 305 subjects, including 65 trios, 80 singletons, and 6 multiple affected families. We used de novo analysis, …

Effects Of Ruxolitinib Cream On Pruritus And Quality Of Life In Atopic Dermatitis: Results From A Phase 2, Randomized, Dose-Ranging, Vehicle- And Active-Controlled Study, Brian S Kim, Kang Sun, Kim Papp, May Venturanza, Adnan Nasir, Michael E. Kuligowski

2020-Current year OA Pubs

BACKGROUND: Atopic dermatitis (AD), a chronic, highly pruritic skin disorder, impairs quality of life (QoL). Janus kinase inhibitors suppress inflammatory and pruritus-associated cytokine signaling in AD.

OBJECTIVE: To report the effects of ruxolitinib (RUX) cream on itch and QoL in AD.

METHODS: A total of 307 adult patients with an Investigator's Global Assessment (score of 2 or 3) and 3% to 20% affected body surface area were randomly assigned for 8 weeks to receive double-blind treatment with RUX (1.5% twice daily, 1.5% once daily, 0.5% once daily, or 0.15% once daily), vehicle twice daily, or triamcinolone cream (0.1% twice daily …

Dupilumab Treatment Results In Early And Sustained Improvements In Itch In Adolescents And Adults With Moderate To Severe Atopic Dermatitis: Analysis Of The Randomized Phase 3 Studies Solo 1 And Solo 2, Ad Adol, And Chronos, Jonathan I. Silverberg, Gil Yosipovitch, Eric L. Simpson, Brian S. Kim, Jashin J. Wu, Laurent Eckert, Isabelle Guillemin, Zhen Chen, Marius Ardeleanu, Ashish Bansal, Mandeep Kaur, Ana B. Rossi, Neil M. H. Graham, Naimish Patel, Abhijit Gadkari

2020-Current year OA Pubs

BACKGROUND: Pruritus (itch) is a cardinal symptom in atopic dermatitis (AD).

OBJECTIVE: To evaluate the timing and effect of dupilumab on itch.

METHODS: Analysis of data from 1505 patients with moderate to severe AD included in 4 randomized controlled studies, treated for up to 52 weeks. Adults received dupilumab 300 mg every 2 weeks or placebo monotherapy (SOLO 1: NCT02277743; SOLO 2: NCT02277769), with concomitant topical corticosteroids (CHRONOS: NCT02260986); adolescents (≥12 to <18 y) were treated with dupilumab monotherapy every 2 weeks (200 mg for baseline weight of <60 kg; 300 mg for baseline weight of ≥60 kg) or placebo (AD ADOL: NCT03054428).

RESULTS: Dupilumab showed significant rapid improvements from baseline in daily Peak Pruritus Numerical Rating Scale scores versus placebo, by day 2 in adults and day 5 in adolescents. …

C'Est Vraiment Compliqué: A Case Study On The Delivery Of Maternal And Child Health And Nutrition Interventions In The Conflict-Affected Regions Of Mali, Anushka Ataullahjan, Michelle F. Gaffey, Moctar Tounkara, Samba Diarra, Seydou Doumbia, Zulfiqar Ahmed Bhutta, Diego G. Bassani

Woman and Child Health

Background: Mali is currently in the midst of ongoing conflicts which involve jihadist groups, rebels, and the state. This conflict has primarily centered in the North of the country. Humanitarian actors delivering services in these geographies must navigate the complex environment created by conflict. This study aimed to understand how humanitarian actors make decisions around health service delivery within this context.
Methods: The current case-study utilized a mixed methods approach and focused on Mopti, Mali's fifth administrative region and fourth largest in population. Latent content analysis was used to analyze interview transcripts guided by our research objectives and new concepts …