Digital Commons Network^™

Incorporating Pathway Information Into Feature Selection Towards Better Performed Gene Signatures, Suyan Tian, Chi Wang, Bing Wang

Biostatistics Faculty Publications

To analyze gene expression data with sophisticated grouping structures and to extract hidden patterns from such data, feature selection is of critical importance. It is well known that genes do not function in isolation but rather work together within various metabolic, regulatory, and signaling pathways. If the biological knowledge contained within these pathways is taken into account, the resulting method is a pathway-based algorithm. Studies have demonstrated that a pathway-based method usually outperforms its gene-based counterpart in which no biological knowledge is considered. In this article, a pathway-based feature selection is firstly divided into three major categories, namely, pathway-level selection, …

A Randomized, Controlled Trial On The Effects Of Almonds On Lipoprotein Response To A Higher Carbohydrate, Lower Fat Diet In Men And Women With Abdominal Adiposity., Paul T. Williams, Nathalie Bergeron, Sally Chiu, Ronald M. Krauss

Faculty Publications & Research of the TUC College of Pharmacy

BACKGROUND: Almonds have been shown to lower LDL cholesterol but there is limited information regarding their effects on the dyslipidemia characterized by increased levels of very low density lipoproteins (VLDL) and small, dense low-density lipoprotein (LDL) particles that is associated with abdominal adiposity and high carbohydrate intake. The objective of the present study was to test whether substitution of almonds for other foods attenuates carbohydrate-induced increases in small, dense LDL in individuals with increased abdominal adiposity.

METHODS: This was a randomized cross-over study of three 3wk diets, separated by 2wk washouts: a higher-carbohydrate (CHO) reference diet (CHO

RESULTS: Relative to …

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 …

Intensive Balance Training For Adults With Incomplete Spinal Cord Injuries: Protocol For An Assessor-Blinded Randomized Clinical Trial., Janelle Unger, Katherine Chan, Carol Y Scovil, B Catharine Craven, Avril Mansfield, Kei Masani, Kristin E Musselman

Physical Therapy Publications

BACKGROUND: Impaired reactive balance control can lead to increased falls in people with neurological impairments. Perturbation-based balance training (PBT), which involves repetitive exposure to destabilizing external perturbations, improves the ability to take reactive steps in older adults and individuals who have had a stroke.

OBJECTIVE: The objective is to investigate whether PBT or conventional intensive balance training (CIBT) results in greater improvements in reactive stepping ability in individuals with chronic incomplete spinal cord injury (iSCI).

DESIGN: The design consists of an assessor-blind randomized clinical trial comparing the efficacy of 2 balance training programs (PBT and CIBT) matched for training duration …

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 …

A Clinician's Guide To Next Generation Imaging In Patients With Advanced Prostate Cancer (Radar Iii)., E. David Crawford, Phillip J. Koo, Neal Shore, Susan F. Slovin, Raoul S. Concepcion, Stephen J. Freedland, Leonard G. Gomella, Lawrence Karsh, Thomas E. Keane, Paul Maroni, David Penson, Daniel P. Petrylak, Ashley Ross, Vlad Mouraviev, Robert E. Reiter, Chaitanya Divgi, Evan Y. Yu

Department of Urology Faculty Papers

PURPOSE: The advanced prostate cancer therapeutic landscape has changed dramatically in the last several years, resulting in improved overall survival of patients with castration naïve and castration resistant disease. The evolution and development of novel next generation imaging techniques will affect diagnostic and therapeutic decision making. Clinicians must navigate when and which next generation imaging techniques to use and how to adjust treatment strategies based on the results, often in the absence of correlative therapeutic data. Therefore, guidance is needed based on best available information and current clinical experience.

MATERIALS AND METHODS: The RADAR (Radiographic Assessments for Detection of Advanced …

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 …

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, …

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 …

More On Waiting For Test Results: When A Doctor Is The Patient, Herbert L Fred

The Texas Heart Institute Journal

No abstract provided.

An Unusual Case Of Takotsubo Cardiomyopathy In Pheochromocytoma, Paolo Angelini

The Texas Heart Institute Journal

No abstract provided.

Transapical Implantation Of Edwards Sapien Xt Valve To Close A Left Ventricular Outflow Tract Pseudoaneurysm, Jorge Peñalver, Wassim Shatila, Francisco Y Macedo, Guilherme V Silva

The Texas Heart Institute Journal

No abstract provided.

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 (

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 …

Controlled Ecological Evaluation Of An Implemented Exercise-Training Programme To Prevent Lower Limb Injuries In Sport: Population-Level Trends In Hospital-Treated Injuries, Caroline F. Finch, Shannon E. Gray, Muhammad Akram, Alex Donaldson, David G. Lloyd, Jill L. Cook

Research outputs 2014 to 2021

OBJECTIVE: Exercise-training programmes have reduced lower limb injuries in trials, but their population-level effectiveness has not been reported in implementation trials. This study aimed to demonstrate that routinely collected hospital data can be used to evaluate population-level programme effectiveness.

METHOD: A controlled ecological design was used to evaluate the effect of FootyFirst, an exercise-training programme, on the number of hospital-treated lower limb injuries sustained by males aged 16-50 years while participating in community-level Australian Football. FootyFirst was implemented with 'support' (FootyFirst+S) or 'without support' (FootyFirst+NS) in different geographic regions of Victoria, Australia: 22 clubs in region 1: FootyFirst+S in 2012/2013; …

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 …

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 …

Minimally Invasive Endovascular Repair Of Ascending Thoracic Aortic Aneurysm With Use Of Local Anesthesia And Conscious Sedation, Abdelkader Almanfi, Zvonimir Krajcer

The Texas Heart Institute Journal

Ascending thoracic aortic aneurysm (ATAA) is typically treated surgically. No commercially available device has been specifically designed for endovascular ATAA repair, and currently, multiple anatomic and technical challenges affect its feasibility. Previously, such repairs have been performed with the patients under general anesthesia. We describe a novel, minimally invasive approach to endovascular repair of ATAA, involving local anesthesia, conscious sedation, and 24-hour hospitalization. Two consecutive male patients (ages, 79 and 54 yr) who had comorbidities underwent percutaneous transfemoral endovascular ATAA repair with use of commercially available endografts. Patient 1 had a saccular aneurysm, and Patient 2 had a pseudoaneurysm consequent …

Unconventional 2:1 Ventricular Pacing In A Neonate With Congenital Heart Block And Biventricular Noncompaction, Andrew E Schneider, Philip L Wackel

The Texas Heart Institute Journal

Congenital complete heart block with concomitant biventricular noncompaction cardiomyopathy has been reported once previously. Although not universal, when restrictive physiology is present, impaired diastolic filling may pose a distinct challenge to pacing during the neonatal period. We present the case of a neonate with congenital complete heart block and biventricular noncompaction that resulted in severe diastolic dysfunction and atrioventricular dyssynchrony. We intentionally used 2:1 ventricular pacing to provide atrioventricular synchrony with every paced beat, and this resulted in hemodynamic and clinical improvement. This unconventional pacing technique may be beneficial in other neonates who have complete heart block and diastolic dysfunction.

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, …

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 …

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 …

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 …

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. …