Digital Commons Network^™

Evaluation Of A Tennessee Statewide Initiative To Reduce Early Elective Deliveries Using Quasi-Experimental Methods, Michael P. Thompson, Ilana Graetz, Caitlin N. Mckillop, Peter H. Grubb, Teresa M. Waters

Health Management and Policy Faculty Publications

Background: Concerted quality improvement (QI) efforts have been taken to discourage the practice of early elective deliveries (EEDs), but few studies have robustly examined the impact of directed QI interventions in reducing EED practices. Using quasi-experimental methods, we sought to evaluate the impact of a statewide QI intervention to reduce the practice of EEDs.

Methods: Retrospective cohort study of vital records data (2007 to 2013) for all singleton births occurring ≥36 weeks in 66 Tennessee hospitals grouped into three QI cohorts. We used interrupted-time series to estimate the effect of the QI intervention on the likelihood of an EED birth …

A Survey Of Risk Tolerance To Multiple Sclerosis Therapies, Robert J Fox, Carol Cosenza, Lauren Cripps, Paul Ford, Marybeth Mercer, Sneha Natarajan, Amber Salter, Tuula Tyry, Stacey S Cofield

Open Access Publications

OBJECTIVE: To determine tolerance to various risk scenarios associated with current multiple sclerosis (MS) therapies.

METHODS: People with MS from the North American Research Committee on Multiple Sclerosis Registry's online cohort and the National Multiple Sclerosis Society were invited to complete a questionnaire on tolerance to real-world risks associated with a hypothetical therapy. Multiple risks levels were presented, including skin rash, infection, kidney injury, thyroid injury, liver injury, and progressive multifocal leukoencephalopathy (PML).

RESULTS: Both PML and kidney injury had the lowest risk tolerance (RT) at 1:1,000,000, and thyroid and infection risks had the highest tolerance at 1:1,000. Men, younger …

Validity Of The Early Activity Scale For Endurance And The 6-Minute Walk Test For Children With Cerebral Palsy., Alyssa Laforme Fiss, Lynn Jeffries, Allison Yocum, Sarah Westcott Mccoy, On Track Study Team

Physical Therapy Publications

PURPOSE: This study aimed to describe Early Activity Scale for Endurance (EASE) scores and 6-minute walk test (6MWT) distances of children with cerebral palsy (CP) by functional ability level, sex, and age and to examine the convergent validity of the 2 tests.

METHODS: A total of 708 participants with CP, Gross Motor Function Classification System (GMFCS) levels I to V, completed the EASE, and 376 of the study participants (3-12years), GMFCS levels I to III, completed the 6MWT.

RESULTS: Children with CP vary in EASE scores and 6MWT distances based on GMFCS level and, to a lesser extent, age. The …

Longitudinal Trajectories And Reference Centiles For The Impact Of Health Conditions On Daily Activities Of Children With Cerebral Palsy., Doreen J Bartlett, Jan Willem Gorter, Lynn M Jeffries, Lisa Avery, Steven E Hanna, On Track Study Team

Physical Therapy Publications

AIM: First, to describe the impact of health conditions on daily activities over time in children with cerebral palsy (CP) and to create age-specific reference centiles. Second, to determine the amount of change typical over a 1-year period, across Gross Motor Function Classification System (GMFCS) levels.

METHOD: A prospective, cohort design, with five assessments over 2 years, involved 708 children with a confirmed diagnosis of CP participating in the On Track Study (396 males, 312 females; mean age 6y [SD 2y 7mo]; range 18mo-12y at first assessment; 32.1% in GMFCS level I, 22.7% in GMFCS level II, 11.2% in GMFCS …

Risk Factors For Falls In Individuals With Lower Extremity Amputations During The Pre-Prosthetic Phase: A Retrospective Cohort Study, Kimberly Vu, Michael W C Payne, Susan W. Hunter, Ricardo Viana

Physical Therapy Publications

BACKGROUND: Falls in individuals with lower limb amputations (LLAs) pose significant health concerns. The literature is limited regarding falls during the preprosthetic phase of rehabilitation for persons with LLAs.

OBJECTIVE: To determine the incidence of falls and identify factors associated with falls during the preprosthetic recovery phase.

DESIGN: Retrospective chart audit.

SETTING: Inpatient rehabilitation program.

PARTICIPANTS: Four hundred forty individuals with LLAs (age ± SD = 61.93 ± 14.53 years, 73.18% male) who attended inpatient rehabilitation from 26 July 2011 to 21 August 2017.

INTERVENTIONS: Not applicable.

MAIN OUTCOME MEASUREMENTS: The number of self-reported falls was recorded from the time …

Whatsapp: A Real-Time Tool To Reduce The Knowledge Gap And Share The Best Clinical Practices In Psoriasis, Luis D Mazzuoccolo, Maria Noel Esposito, Paula C Luna, Sharon Seiref, Mirtha Dominguez, Cristina M Echeverria

Project ECHO Bibliography

BACKGROUND: Psoriasis is a chronic inflammatory disease that affects around 100 million people worldwide. The burden of disease is high, but more recent therapies show promising results. Clinicians need, however, more training in the use of such therapies.

INTRODUCTION: Project ECHO

MATERIALS AND METHODS: One hundred thirty-two dermatologists in Argentina were invited to participate in the WhatsApp discussion group. After 1 year of participation, a follow-up questionnaire was used to assess the effectiveness of the project.

RESULTS: Eighty dermatologists participated. All questions placed in the discussion were answered by a psoriasis specialist, 79% of which were answered within the first …

Comparison Of Nylon-Flocked Swab And Dacron Swab Cytology For Anal Hsil Detection In Transgender Women And Gay, Bisexual, And Other Men Who Have Sex With Men, Dorothy J. Wiley, Hilary K. Hsu, Martha A. Ganser, Jenny Brook, David A. Elashoff, Stephen A. Young, Nancy E. Joste, Ronald Mitsuyasu, Teresa M. Darragh, David H. Morris, Otoniel M. Martínez-Maza, Roger Detels, Jian Yu Rao, Robert K. Bolan, Eric T. Shigeno, Ernesto Rodriguez, Matthrew G. Moran

Pathology Research and Scholarship

BACKGROUND: An anal histological high-grade squamous intraepithelial lesion (hHSIL) is an anal cancer precursor. Experts recommend Dacron swab anal cytology as a primary screen for anal hHSILs, especially among human immunodeficiency virus-infected and -uninfected men who have sex with men (MSM). Studies have shown that Dacron cytology inaccurately predicts anal hHSILs and results in unnecessary diagnostic procedures. Nylon-flocked (NF) swabs have been shown to trap pathogens and cells well. Thus, this study compared test characteristics of anal cytology using NF and Dacron swab collection protocols to predict anal hHSILs.

METHODS: A single-visit, randomized clinical trial compared NF and Dacron swab …

Rationale And Methods For A Multicenter Clinical Trial Assessing Exercise And Intensive Vascular Risk Reduction In Preventing Dementia (Rrad Study), Amanda N. Szabo-Reed, Eric Vidoni, Ellen F. Binder, Jeffrey Burns, C. Munro Cullum, William P. Gahan, Aditi Gupta, Linda S. Hynan, Diana R. Kerwin, Heidi Rossetti, Ann M. Stowe, Wanpen Vongpatanasin, David C. Zhu, Rong Zhang, Jeffrey N. Keller

Neurology Faculty Publications

Alzheimer's Disease (AD) is an age-related disease with modifiable risk factors such as hypertension, hypercholesterolemia, obesity, and physical inactivity influencing the onset and progression. There is however, no direct evidence that reducing these risk factors prevents or slows AD. The Risk Reduction for Alzheimer's Disease (rrAD) trial is designed to study the independent and combined effects of intensive pharmacological control of blood pressure and cholesterol and exercise training on neurocognitive function. Six hundred and forty cognitively normal older adults age 60 to 85 years with hypertension and increased risk for dementia will be enrolled. Participants are randomized into one of …

One-Year Results Of The Liberty 360 Study: Evaluation Of Acute And Midterm Clinical Outcomes Of Peripheral Endovascular Device Interventions., Jihad Mustapha, William Gray, Brad J Martinsen, Ryan W Bolduan, George L Adams, Gary Ansel, Michael R Jaff

Heart and Vascular Articles

PURPOSE: To report the 1-year results of a multicenter study of peripheral artery disease (PAD) treatment with a variety of endovascular treatment strategies employed in routine practice.

MATERIALS AND METHODS: The LIBERTY trial ( ClinicalTrials.gov identifier NCT01855412) is a prospective, observational, core laboratory-assessed, multicenter study of endovascular device intervention in 1204 subjects (mean age 69.8±10.7 years; 770 men) stratified by Rutherford category (RC): claudicants (RC2,3; n=501) and critical limb ischemia (CLI) with no/minimal tissue loss (RC4,5; n=603) or significant tissue loss (RC6; n=100). Key outcomes included quality of life (QoL) measures (VascuQol and EuroQol) and freedom from major adverse events …

Inotuzumab Ozogamicin In Pediatric Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia., Deepa Bhojwani, Richard Sposto, Nirali N. Shah, Vilmarie Rodriguez, Constance Yuan, Maryalice Stetler-Stevenson, Maureen M. O'Brien, Jennifer L. Mcneer, Amrana Quereshi, Aurelie Cabannes, Paul Schlegel, Claudia Rossig, Luciano Dalla-Pozza, Keith August, Sarah Alexander, Jean-Pierre Bourquin, Michel Zwaan, Elizabeth A. Raetz, Mignon L. Loh, Susan R. Rheingold

Manuscripts, Articles, Book Chapters and Other Papers

Although inotuzumab ozogamicin (InO) is recognized as an effective agent in relapsed acute lymphoblastic leukemia (ALL) in adults, data on safety and efficacy in pediatric patients are scarce. We report the use of InO in 51 children with relapsed/refractory ALL treated in the compassionate use program. In this heavily pretreated cohort, complete remission was achieved in 67% of patients with overt marrow disease. The majority (71%) of responders were negative for minimal residual disease. Responses were observed irrespective of cytogenetic subtype or number or type of prior treatment regimens. InO was well-tolerated; grade 3 hepatic transaminitis or hyperbilirubinemia were noted …

Effect Of Aging And Predonation Comorbidities On The Related Peripheral Blood Stem Cell Donor Experience: Report From The Related Donor Safety Study., Michael A. Pulsipher, Brent R. Logan, Pintip Chitphakdithai, Deidre M. Kiefer, Marcie L. Riches, J Douglas Rizzo, Paolo Anderlini, Susan F. Leitman, James W. Varni, Hati Kobusingye, Raeanne M. Besser, John P. Miller, Rebecca J. Drexler, Aly Abdel-Mageed, Ibrahim A. Ahmed, Luke P. Akard, Andrew S. Artz, Edward D. Ball, Ruthee-Lu Bayer, Carolyn Bigelow, Brian J. Bolwell, E Randolph Broun, Nancy J. Bunin, David C. Delgado, Katharine Duckworth, Christopher C. Dvorak, Theresa E. Hahn, Ann E. Haight, Parameswaran N. Hari, Brandon M. Hayes-Lattin, David A. Jacobsohn, Ann A. Jakubowski, Kimberly A. Kasow, Hillard M. Lazarus, Jane L. Liesveld, Michael Linenberger, Mark R. Litzow, Walter Longo, Margarida Magalhaes-Silverman, John M. Mccarty, Joseph P. Mcguirk, Shahram Mori, Vinod K. Prasad, Scott D. Rowley, Witold B. Rybka, Indira Sahdev, Jeffrey R. Schriber, George B. Selby, Paul J. Shaughnessy, Shalini Shenoy, Thomas Spitzer, William T. Tse, Joseph P. Uberti, Madhuri Vusirikala, Edmund K. Waller, Daniel J. Weisdorf, Gregory A. Yanik, Willis H. Navarro, Mary M. Horowitz, Galen E. Switzer, Bronwen E. Shaw, Dennis L. Confer

Manuscripts, Articles, Book Chapters and Other Papers

The development of reduced-intensity approaches for allogeneic hematopoietic cell transplantation has resulted in growing numbers of older related donors (RDs) of peripheral blood stem cells (PBSCs). The effects of age on donation efficacy, toxicity, and long-term recovery in RDs are poorly understood. To address this we analyzed hematologic variables, pain, donation-related symptoms, and recovery in 1211 PBSC RDs aged 18 to 79 enrolled in the Related Donor Safety Study. RDs aged > 60 had a lower median CD34+ level before apheresis compared with younger RDs (age > 60, 59 × 106/L; age 41 to 60, 81 × 106/L; age 18 to 40, …

Assessing The Personal Needs And Professional Issues That Hinder Credentialed Women In The Ohio Ministry Network: Egalitarianism And The Image Of God, Deedra Ann Shilliday

Doctor of Ministry (DMin)

The purpose of this study was to discover if some local Assemblies of God (A/G) church practices differed from the denominational egalitarian theology. Credentialed women from the Ohio Ministry Network (OMN), a district of the General Council of the Assemblies of God, were surveyed. According to the survey results, time management, representation at OMN events, ministry connections, and exclusion from the leadership pipeline are the greatest challenges for credentialed women. The goal of promoting awareness of the personal needs and professional issues of credentialed women was actualized by integrating the literature review of imago Dei theology with an Ohio School …

Splice-Altering Variant In Col11a1 As A Cause Of Nonsyndromic Hearing Loss Dfna37., Kevin T. Booth, James W. Askew, Zohreh Talebizadeh, Patrick L M Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S. Hildebrand, Katherine R. Smith, Melanie Bahlo, William J. Kimberling, Richard J H Smith, Hela Azaiez, Shelley D. Smith

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.

METHODS: Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family.

RESULTS: Affected individuals presented with early-onset progressive mild hearing impairment with a fairly flat, gently downsloping or U-shaped audiogram configuration. Detailed clinical examination excluded any additional symptoms. Linkage analysis detected an interval on chromosome 1p21 with a logarithm of the odds (LOD) score of 8.29: designated locus DFNA37. Exome sequencing identified a novel canonical acceptor splice-site variant c.652-2A>C in the COL11A1 …

Effectiveness Of Artificial Neochordae Implantation In Tricuspid Valve Repair, Salih Salihi, H Tarik Kiziltan, Ahmad Huraibat, Askin Ali Korkmaz, Ibrahim Kara, Mustafa Guden

The Texas Heart Institute Journal

Various techniques for treating tricuspid regurgitation have been described; however, because of scarce data about the long-term outcomes of different repairs, the optimal technique has not been established. We evaluated the effectiveness and durability of artificial neochordae implantation in the treatment of tricuspid regurgitation. From 2009 through 2014, 507 patients underwent tricuspid valve repair at our institution. Of those, 48 patients implanted with artificial neochordae were included in our study. The median age of the participants was 62 years (range, 4-77 yr) and 50% were women. Thirty patients (63%) were in New York Heart Association functional class III, and 11 …

Reading Between The Lines: An Intersectional Media Analysis Of Female Sex Offenders In Florida Newspapers, Toniqua C. Mikell

Theses and Dissertations

The media is one of the furthest reaching social institutions of our society. It is a source of white patriarchal ideologies and a vehicle through which they are communicated. Female sex offenders represent a nexus of prescribed social and legal violations. This dissertation examines the reinforcement of patriarchal ideas in media coverage of female sex offenders by posing the question: how are female sex offenders portrayed in the media? Specifically, how are those portrayals racialized? Using an intersectional lens, this study employs a qualitative content analysis to examine the top five circulating newspapers in Florida and their coverage of female …

Cross-Day Influences Between Couple Closeness And Coparenting Support Among New Parents., Yunying Le, Steffany J Fredman, Brandon T. Mcdaniel Phd, Jean-Philippe Laurenceau, Mark E Feinberg

Health Services and Informatics Research

The couple and coparenting relationships are demonstrated to be prospectively and bidirectionally associated over months to years during the early parenting years. However, little is known about these associations at the daily level within the first year of parenthood, when coparenting first emerges. The goal of the current study was to examine the association between couples' daily feelings of relationship closeness and coparenting support in first-time parents and determine directionality of these effects using a dyadic daily diary design. At 10 months postpartum, heterosexual couples (

Effect Of Percutaneous Suction Thromboembolectomy On Improved Right Ventricular Function, Akbarshakh Akhmerov, Heidi Reich, James Mirocha, Danny Ramzy

The Texas Heart Institute Journal

Venous thromboembolism is a leading cause of cardiovascular death. Historically, surgical intervention has been associated with high morbidity rates. Pharmacologic therapy alone can be inadequate for patients with substantial hemodynamic compromise, so minimally invasive procedures are being developed to reduce clot burden. We describe our initial experience with using the AngioVac system to remove thromboemboli percutaneously. We reviewed all suction thromboembolectomy procedures performed at our institution from March 2013 through August 2015. The main indications for the procedure were failed catheter-directed therapy, contraindication to thrombolysis, bleeding-related complications, and clot-in-transit phenomena. We collected details on patient characteristics, procedural indications, thrombus location, …

Do Psychopathic Birds Of A Feather Flock Together? Psychopathic Personality Traits And Romantic Preferences, Ashley L Watts, Jessica C Rohr, Katherine L Mccauley, Sarah Francis Smith, Kristin Landfield Howe, Scott O Lilienfeld

Staff and Researcher Publications

Objective: The goal of the present studies was to investigate whether people are especially attracted to psychopathic traits, and whether there are individual differences in such attraction.

Method: Female undergraduates (N = 270; Mage = 19; 57% White, 20% Asian, 8% Black) and female and male community members (N = 426; Mage = 37; 56% female; 81% Caucasian, 10% African American, 4% Asian) reported on their own personality and constructed their ideal mate for a dating, short-term, and long-term relationship from a list of 70 characteristics drawn from well-validated criteria for psychopathic personality and diagnostic criteria for DSM-5 personality disorders …

South West Food Community: A Place-Based Pilot Study To Understand The Food Security System, Stephanie Louise Godrich, Jennifer Payet, Deborah Brealey, Melinda Edmunds, Melissa Stoneham, Amanda Devine

Research outputs 2014 to 2021

The objectives of this study were to: (i) Identify initiatives supporting healthy food availability, access and utilisation in the South West region of Western Australia (WA); and (ii) understand how they were functioning as a system to enhance community-level food security (FS). This study used a novel approach; a Systemic Innovation Lab, to interview initiative leaders/stakeholders about their FS initiative. Initiative characteristics measured included those which were associated with creating the effective conditions for FS systems change. Information was uploaded to an innovative online tool, creating a 'transition card' (matrix) of initiatives and partnering organisations. Fifty-one participants reported on 52 …

Proteomic Alterations Of Hdl In Youth With Type 1 Diabetes And Their Associations With Glycemic Control: A Case-Control Study, Evgenia Gourgari, Junfeng Ma, Martin P. Playford, Nehal N. Mehta, Radoslav Goldman, Alan T. Remaley, Scott M. Gordon

Saha Cardiovascular Research Center Faculty Publications

Background: Patients with type 1 diabetes (T1DM) typically have normal or even elevated plasma high density lipoprotein (HDL) cholesterol concentrations; however, HDL protein composition can be altered without a change in cholesterol content. Alteration of the HDL proteome can result in dysfunctional HDL particles with reduced ability to protect against cardiovascular disease (CVD). The objective of this study was to compare the HDL proteomes of youth with T1DM and healthy controls (HC) and to evaluate the influence of glycemic control on HDL protein composition.

Methods: This was a cross-sectional case–control study. Blood samples were obtained from patients with T1DM and …

Reclaiming Their Rightful Place?: An Analysis Of The Links Between Medieval And Early Modern Female Brewers And Consumers In Ireland With Their Modern Counterparts, Christina Wade

Journal of Franco-Irish Studies

Over the course of the past several decades the world of beer and brewing has undergone a major shift. What was once an industry and culture dominated by men has seen a considerable influx of both female brewers and consumers. This has often been heralded in the media as a return to the historical status quo, because, they contend, women had generally been the dominant force in brewing for centuries all over the world. These articles explore this brewing history for links to the modern craft beer scene and often conclude that women are once again achieving their rightful position …

Cultivating Grit: Faculty Influence On Females' Academic Success In Engineering Majors, Lisa Lynn Wymer

Theses and Dissertations

The purpose of this study was to identify the relationships between the positive and negative factors that impact undergraduate female engineering students’ academic success in their programs. While females participate and persist in higher education at higher rates than their male counterparts, engineering is one field of study where gender disparity remains especially apparent, as males continue to outnumber females in engineering degree attainment (Ross, Kena, Rathbun, KewalRamani, Zhang, Kristapovich, & Manning, 2012, Schreuders, Mannon, & Rutherford, 2009, Tsui, 2009). The conceptual framework for this study was based on Tinto’s Longitudinal Model of Institutional Departure, which provides the theoretical foundation …

Canadian Children From Food Insecure Households Experience Low Self-Esteem And Self-Efficacy For Healthy Lifestyle Choices, Stephanie L. Godrich, Olivia K. Loewen, Rosanne Blanchet, Noreen Willows, Paul Veugelers

Research outputs 2014 to 2021

The objectives of this cross-sectional study were to: (i) determine whether there are differences in self-esteem and self-efficacy for healthy lifestyle choices between children living in food secure and food insecure households; and (ii) determine whether the association between household food insecurity (HFI), self-esteem and self-efficacy differs by gender. Survey responses of 5281 fifth-grade students (10 and 11 years of age) participating in the Canadian Children's Lifestyle and School Performance Study II were analyzed using logistic and linear regression. HFI status was determined by the six-item short-form Household Food Security Survey Module (HFSSM). Students from food insecure households had significantly …

Skin Cancer Precursor Immunotherapy For Squamous Cell Carcinoma Prevention, Abby R Rosenberg, Mary Tabacchi, Kenneth H Ngo, Michael Wallendorf, Ilana S Rosman, Lynn A Cornelius, Shadmehr Demehri

Open Access Publications

BACKGROUND: Topical calcipotriol plus 5-fluorouracil (5-FU) combination is an effective immunotherapy against actinic keratosis (AK), which is a precursor to squamous cell carcinoma (SCC). However, the long-term effectiveness of calcipotriol plus 5-FU treatment for SCC prevention is unknown.

METHODS: We performed a blinded prospective cohort study on participants of a randomized double-blind clinical trial in which a 4-day course of topical calcipotriol plus 5-FU combination was compared to Vaseline plus 5-FU (control) for AK treatment. SCC and basal cell carcinoma (BCC) incidences were assessed at 1, 2, and 3 years after trial. Tissues were analyzed for calcipotriol plus 5-FU-induced T …

Factors Associated With Condom Use With Non-Commercial Partners Among Sexually-Active Transgender Women In Cambodia: Findings From A National Survey Using Respondent-Driven Sampling., Siyan Yi, Amelia Plant, Sovannary Tuot, Phalkun Mun, Srean Chhim, Navy Chann, Pheak Chhoun, Carinne M. Brody

BACKGROUND: Globally, the prevalence of HIV among transgender women is much higher than that of the general adult population. This can be explained by the persistently low rate of consistent condom use among this population. This study was therefore conducted to explore factors associated with consistent condom use among sexually-active transgender women in Cambodia, specifically with their non-commercial partners.

METHODS: Data used for this study were collected as part of the National Integrated Biological and Behavioral Survey 2016. Participants were recruited from the capital city of Phnom Penh and 12 other provinces with high burden of HIV using the Respondent-Driven …

Buparlisib In Patients With Recurrent Glioblastoma Harboring Phosphatidylinositol 3-Kinase Pathway Activation: An Open-Label, Multicenter, Multi-Arm, Phase Ii Trial., Patrick Y Wen, Mehdi Touat, Brian M Alexander, Ingo K Mellinghoff, Shakti Ramkissoon, Christine S Mccluskey, Kristine Pelton, Sam Haidar, Sankha S Basu, Sarah C Gaffey, Loreal E Brown, Juan Emmanuel Martinez-Ledesma, Shaofang Wu, Jungwoo Kim, Wei Wei, Mi-Ae Park, Jason T Huse, John G Kuhn, Mikael L Rinne, Howard Colman, Nathalie Y R Agar, Antonio M Omuro, Lisa M Deangelis, Mark R Gilbert, John F De Groot, Timothy F Cloughesy, Andrew S Chi, Thomas M Roberts, Jean J Zhao, Eudocia Q Lee, Lakshmi Nayak, James R Heath, Laura L Horky, Tracy T Batchelor, Rameen Beroukhim, Susan M Chang, Azra H Ligon, Ian F Dunn, Dimpy Koul, Geoffrey S Young, Michael D Prados, David A Reardon, W K Alfred Yung, Keith L Ligon

Articles, Abstracts, and Reports

PURPOSE: Phosphatidylinositol 3-kinase (PI3K) signaling is highly active in glioblastomas. We assessed pharmacokinetics, pharmacodynamics, and efficacy of the pan-PI3K inhibitor buparlisib in patients with recurrent glioblastoma with PI3K pathway activation.

METHODS: This study was a multicenter, open-label, multi-arm, phase II trial in patients with PI3K pathway-activated glioblastoma at first or second recurrence. In cohort 1, patients scheduled for re-operation after progression received buparlisib for 7 to 13 days before surgery to evaluate brain penetration and modulation of the PI3K pathway in resected tumor tissue. In cohort 2, patients not eligible for re-operation received buparlisib until progression or unacceptable toxicity. Once …

Global Variation Of Nutritional Status In Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study Of The International Pediatric Peritoneal Dialysis Network., Franz Schaefer, Laura Benner, Dagmara Borzych-Dużałka, Joshua Zaritsky, Hong Xu, Lesley Rees, Zenaida L Antonio, Erkin Serdaroglu, Nakysa Hooman, Hiren Patel, Lale Sever, Karel Vondrak, Joseph Flynn, Anabella Rébori, William Wong, Tuula Hölttä, Zeynep Yuruk Yildirim, Bruno Ranchin, Ryszard Grenda, Sara Testa, Dorota Drożdz, Attila J. Szabo, Loai Eid, Biswanath Basu, Renata Vitkevic, Cynthia Wong, Stephen J. Pottoore, Dominik Müller, Ruhan Dusunsel, Claudia Gonzalez Celedon, Marc Fila, Lisa Sartz, Anja Sander, Bradley A. Warady, International Pediatric Peritoneal Dialysis Network (Ippn) Registry

Manuscripts, Articles, Book Chapters and Other Papers

While children approaching end-stage kidney disease (ESKD) are considered at risk of uremic anorexia and underweight they are also exposed to the global obesity epidemic. We sought to investigate the variation of nutritional status in children undergoing chronic peritoneal dialysis (CPD) around the globe. The distribution and course of body mass index (BMI) standard deviation score over time was examined prospectively in 1001 children and adolescents from 35 countries starting CPD who were followed in the International Pediatric PD Network (IPPN) Registry. The overall prevalence of underweight, and overweight/obesity at start of CPD was 8.9% and 19.7%, respectively. Underweight was …

A Novel Pathogenic Variant In Osbpl2 Linked To Hereditary Late-Onset Deafness In A Mongolian Family, Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu

Open Access Publications

BACKGROUND: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease.

METHODS: Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire. Genomic DNA was extracted from peripheral blood of 5 family members (3 patients and 2 normal control) and subjected to whole genome sequencing for identifying deafness casual genes. The pathogenic variant in the deafness gene was further confirmed by Sanger sequencing. …

H3k27m Induces Defective Chromatin Spread Of Prc2-Mediated Repressive H3k27me2/Me3 And Is Essential For Glioma Tumorigenesis., Ashot S. Harutyunyan, Brian Krug, Haifen Chen, Simon Papillon-Cavanagh, Michele Zeinieh, Nicolas De Jay, Shriya Deshmukh, Carol C L Chen, Jad Belle, Leonie G. Mikael, Dylan M. Marchione, Rui Li, Hamid Nikbakht, Bo Hu, Gael Cagnone, Warren A. Cheung, Abdulshakour Mohammadnia, Denise Bechet, Damien Faury, Melissa K. Mcconechy, Manav Pathania, Siddhant U. Jain, Benjamin Ellezam, Alexander G. Weil, Alexandre Montpetit, Paolo Salomoni, Tomi Pastinen, Chao Lu, Peter W. Lewis, Benjamin A. Garcia, Claudia L. Kleinman, Nada Jabado, Jacek Majewski

Manuscripts, Articles, Book Chapters and Other Papers

Lys-27-Met mutations in histone 3 genes (H3K27M) characterize a subgroup of deadly gliomas and decrease genome-wide H3K27 trimethylation. Here we use primary H3K27M tumor lines and isogenic CRISPR-edited controls to assess H3K27M effects in vitro and in vivo. We find that whereas H3K27me3 and H3K27me2 are normally deposited by PRC2 across broad regions, their deposition is severely reduced in H3.3K27M cells. H3K27me3 is unable to spread from large unmethylated CpG islands, while H3K27me2 can be deposited outside these PRC2 high-affinity sites but to levels corresponding to H3K27me3 deposition in wild-type cells. Our findings indicate that PRC2 recruitment and propagation on …

Second Case Of Hoip Deficiency Expands Clinical Features And Defines Inflammatory Transcriptome Regulated By Lubac., Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich

Manuscripts, Articles, Book Chapters and Other Papers

Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-κB signaling and thus proper innate and adaptive immunity. To date only one patient with HOIP deficiency has been reported with clinical characteristics that include autoinflammation, immunodeficiency, amylopectinosis, and systemic lymphangiectasia. Case: We sought to identify a genetic cause of a disease for an 8 year-old girl who presented with early-onset immune deficiency and autoinflammation. Methods: Targeted next generation sequencing of 352 immune-related genes was performed. Functional studies included transcriptome analysis, cytokine profiling, and protein analysis in patients' primary cells. Results: We …