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Articles 23761 - 23790 of 29638
Full-Text Articles in Entire DC Network
Novel Parent-Of-Origin-Specific Differentially Methylated Loci On Chromosome 16, Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J Hopkin, Aaron Hamvas, Jennifer A Wambach, Marwan Shinawi, Gladys Zapata, Claudia M B Carvalho, Qian Liu, Justyna A Karolak, James R Lupski, Neil A Hanchard, Paweł Stankiewicz
Novel Parent-Of-Origin-Specific Differentially Methylated Loci On Chromosome 16, Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J Hopkin, Aaron Hamvas, Jennifer A Wambach, Marwan Shinawi, Gladys Zapata, Claudia M B Carvalho, Qian Liu, Justyna A Karolak, James R Lupski, Neil A Hanchard, Paweł Stankiewicz
Open Access Publications
BACKGROUND: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on the maternally inherited chromosome 16. Given the phenotypic similarities between upd(16)mat and ACDMPV, together with parental allelic bias in ACDMPV, we hypothesized that there may be unknown imprinted loci mapping to chromosome 16 that become functionally unmasked by chromosomal structural variants.
RESULTS: To identify parent-of-origin biased DNA methylation, we performed high-resolution bisulfite …
Detection Of Pediatric Upper Extremity Motor Activity And Deficits With Accelerometry, Catherine R. Hoyt, Andrew N. Van, Mario Ortega, Jonathan M. Koller, Elyse A. Everett, Annie L. Nguyen, Catherine E. Lang, Bradley L. Schlaggar, Nico U.F. Dosenbach
Detection Of Pediatric Upper Extremity Motor Activity And Deficits With Accelerometry, Catherine R. Hoyt, Andrew N. Van, Mario Ortega, Jonathan M. Koller, Elyse A. Everett, Annie L. Nguyen, Catherine E. Lang, Bradley L. Schlaggar, Nico U.F. Dosenbach
Open Access Publications
Importance: Affordable, quantitative methods to screen children for developmental delays are needed. Motor milestones can be an indicator of developmental delay and may be used to track developmental progress. Accelerometry offers a way to gather real-world information about pediatric motor behavior.
Objective: To develop a referent cohort of pediatric accelerometry from bilateral upper extremities (UEs) and determine whether movement can accurately distinguish those with and without motor deficits.
Design, Setting, and Participants: Children aged 0 to 17 years participated in a prospective cohort from December 8, 2014, to December 29, 2017. Children were recruited from Ranken Jordan Pediatric Bridge Hospital, …
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
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 …
Incorporating Pathway Information Into Feature Selection Towards Better Performed Gene Signatures, Suyan Tian, Chi Wang, Bing Wang
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, …
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
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
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
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
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
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
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
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
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
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
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
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
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, …
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
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 …
A Heteroscedastic Hidden Markov Mixture Model For Responses And Categorized Response Times, Dylan Molenaar, Sandor Rózsa, Maria Bolsinova
A Heteroscedastic Hidden Markov Mixture Model For Responses And Categorized Response Times, Dylan Molenaar, Sandor Rózsa, Maria Bolsinova
Open Access Publications
Various mixture modeling approaches have been proposed to identify within-subjects differences in the psychological processes underlying responses to psychometric tests. Although valuable, the existing mixture models are associated with at least one of the following three challenges: (1) A parametric distribution is assumed for the response times that-if violated-may bias the results; (2) the response processes are assumed to result in equal variances (homoscedasticity) in the response times, whereas some processes may produce more variability than others (heteroscedasticity); and (3) the different response processes are modeled as independent latent variables, whereas they may be related. Although each of these challenges …
Astct Consensus Grading For Cytokine Release Syndrome And Neurologic Toxicity Associated With Immune Effector Cells, Daniel W Lee, Armin Ghobadi, John F Dipersio, Et Al
Astct Consensus Grading For Cytokine Release Syndrome And Neurologic Toxicity Associated With Immune Effector Cells, Daniel W Lee, Armin Ghobadi, John F Dipersio, Et Al
Open Access Publications
Chimeric antigen receptor (CAR) T cell therapy is rapidly emerging as one of the most promising therapies for hematologic malignancies. Two CAR T products were recently approved in the United States and Europe for the treatment ofpatients up to age 25years with relapsed or refractory B cell acute lymphoblastic leukemia and/or adults with large B cell lymphoma. Many more CAR T products, as well as other immunotherapies, including various immune cell- and bi-specific antibody-based approaches that function by activation of immune effector cells, are in clinical development for both hematologic and solid tumor malignancies. These therapies are associated with unique …
Five-Year Efficacy And Safety Of Asfotase Alfa Therapy For Adults And Adolescents With Hypophosphatasia, Priya S Kishnani, Cheryl Rockman-Greenberg, Frank Rauch, M Tariq Bhatti, Scott Moseley, Andrew E Denker, Eric Watsky, Michael P Whyte
Five-Year Efficacy And Safety Of Asfotase Alfa Therapy For Adults And Adolescents With Hypophosphatasia, Priya S Kishnani, Cheryl Rockman-Greenberg, Frank Rauch, M Tariq Bhatti, Scott Moseley, Andrew E Denker, Eric Watsky, Michael P Whyte
Open Access Publications
Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6, and inorganic pyrophosphate (PPi), a potent inhibitor of mineralization. Asfotase alfa is an enzyme replacement therapy developed to treat HPP. This multinational, randomized, open-label study (NCT01163149; EudraCT 2010-019850-42) evaluated the efficacy and safety of asfotase alfa in adults and adolescents 13-66 years of age with HPP. The study comprised a 6-month primary treatment period and a 4.5-year extension phase. In the primary treatment period, 19 patients were randomized to receive asfotase alfa …
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
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 (
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
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 …
An Unusual Case Of Takotsubo Cardiomyopathy In Pheochromocytoma, Paolo Angelini
An Unusual Case Of Takotsubo Cardiomyopathy In Pheochromocytoma, Paolo Angelini
The Texas Heart Institute Journal
No abstract provided.
More On Waiting For Test Results: When A Doctor Is The Patient, Herbert L Fred
More On Waiting For Test Results: When A Doctor Is The Patient, Herbert L Fred
The Texas Heart Institute Journal
No abstract provided.
Minimally Invasive Endovascular Repair Of Ascending Thoracic Aortic Aneurysm With Use Of Local Anesthesia And Conscious Sedation, Abdelkader Almanfi, Zvonimir Krajcer
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 …
Effectiveness Of Artificial Neochordae Implantation In Tricuspid Valve Repair, Salih Salihi, H Tarik Kiziltan, Ahmad Huraibat, Askin Ali Korkmaz, Ibrahim Kara, Mustafa Guden
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 …
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
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.
Effect Of Percutaneous Suction Thromboembolectomy On Improved Right Ventricular Function, Akbarshakh Akhmerov, Heidi Reich, James Mirocha, Danny Ramzy
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, …
Unconventional 2:1 Ventricular Pacing In A Neonate With Congenital Heart Block And Biventricular Noncompaction, Andrew E Schneider, Philip L Wackel
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.
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
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; …