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Articles 13231 - 13260 of 18729
Full-Text Articles in Medical Specialties
Effect Of Liquid And Solid Test Meals On Symptoms And Gastric Myoelectrical Activity In Patients With Gastroparesis And Functional Dyspepsia, Kenneth L Koch, Mark Van Natta, Henry P Parkman, Madhusudan Grover, Thomas L Abell, Richard W Mccallum, Hossam A Shaltout, Irene Sarosiek, Gianrico Farrugia, Robert J Shulman, James Tonascia, Laura Miriel, Frank Hamilton, Pankaj J Pasricha, Gastroparesis Clinical Research Consortium
Effect Of Liquid And Solid Test Meals On Symptoms And Gastric Myoelectrical Activity In Patients With Gastroparesis And Functional Dyspepsia, Kenneth L Koch, Mark Van Natta, Henry P Parkman, Madhusudan Grover, Thomas L Abell, Richard W Mccallum, Hossam A Shaltout, Irene Sarosiek, Gianrico Farrugia, Robert J Shulman, James Tonascia, Laura Miriel, Frank Hamilton, Pankaj J Pasricha, Gastroparesis Clinical Research Consortium
Faculty, Staff and Students Publications
BACKGROUND: Patients with gastroparesis (GP) and functional dyspepsia (FD) have similar symptoms, but the pathophysiology of postprandial symptoms remains uncertain.
AIMS: To compare symptoms and gastric myoelectrical activity (GMA) after liquid and solid test meals in patients with GP and FD.
METHODS: Patients enrolled in the Gastroparesis Clinical Research Consortium Registry were studied. Clinical characteristics were measured with standard questionnaires. GP was determined by 4-h solid-phase gastric scintigraphy. GMA was measured using electrogastrography before and after ingestion of a water load or nutrient bar on separate days. Symptoms were measured on visual analog scales. GMA responses to the water load …
Regulation Of Skeletal Muscle Protein Synthesis In The Preterm Pig By Intermittent Leucine Pulses During Continuous Parenteral Feeding, Marko Rudar, Agus Suryawan, Hanh V Nguyen, Shaji K Chacko, Caitlin Vonderohe, Barbara Stoll, Douglas G Burrin, Marta L Fiorotto, Teresa A Davis
Regulation Of Skeletal Muscle Protein Synthesis In The Preterm Pig By Intermittent Leucine Pulses During Continuous Parenteral Feeding, Marko Rudar, Agus Suryawan, Hanh V Nguyen, Shaji K Chacko, Caitlin Vonderohe, Barbara Stoll, Douglas G Burrin, Marta L Fiorotto, Teresa A Davis
Faculty, Staff and Students Publications
BACKGROUND: Extrauterine growth restriction is a common complication of preterm birth. Leucine (Leu) is an agonist for the mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) signaling pathway that regulates translation initiation and protein synthesis in skeletal muscle. Previously, we showed that intermittent intravenous pulses of Leu to neonatal pigs born at term receiving continuous enteral nutrition increases muscle protein synthesis and lean mass accretion. Our objective was to determine the impact of intermittent intravenous pulses of Leu on muscle protein anabolism in preterm neonatal pigs administered continuous parenteral nutrition.
METHODS: Following preterm delivery (on day 105 of 115 gestation), …
Compound Heterozygosity Of A De Novo Submicroscopic Deletion And An Inherited Frameshift Pathogenic Variant In The Pkhd1 Gene In A Fetus With Bilaterally Enlarged And Echogenic Kidneys, Enlarged Abdomen And Oligohydramnios, Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C Braun, Ignatia B Van Den Veyver, Weimin Bi
Compound Heterozygosity Of A De Novo Submicroscopic Deletion And An Inherited Frameshift Pathogenic Variant In The Pkhd1 Gene In A Fetus With Bilaterally Enlarged And Echogenic Kidneys, Enlarged Abdomen And Oligohydramnios, Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C Braun, Ignatia B Van Den Veyver, Weimin Bi
Faculty, Staff and Students Publications
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease‐causing PKHD1 deletion.
Multiplexed Transgenic Selection And Counterselection Strategies To Expedite Genetic Manipulation Workflows Using Drosophila Melanogaster, Koen J T Venken, Nick Matinyan, Yezabel Gonzalez, Herman A Dierick
Multiplexed Transgenic Selection And Counterselection Strategies To Expedite Genetic Manipulation Workflows Using Drosophila Melanogaster, Koen J T Venken, Nick Matinyan, Yezabel Gonzalez, Herman A Dierick
Faculty, Staff and Students Publications
We recently described a set of four selectable and two counterselectable markers that provide resistance and sensitivity, respectively, against their corresponding drugs using the model organism Drosophila melanogaster. The four selectable markers provide animal resistance against G418 sulfate, Puromycin HCl, Blasticidin S, or Hygromycin B, while the two counterselection markers make animals sensitive to Ganciclovir/Acyclovir, or 5-Fluorocytosine. Unlike classical phenotypic markers, visual or fluorescent, which require extensive screening progeny of a genetic cross for desired genotypes, resistance and sensitivity markers eliminate this laborious procedure by directly selecting for, or counterselecting against, the desired genotypes. We demonstrated the usefulness of …
Risks Of Mortality And Severe Coronavirus Disease 19 (Covid-19) Outcomes In Patients With Or Without Systemic Lupus Erythematosus, Sebastian Bruera, Xiudong Lei, Hui Zhao, Jinoos Yazdany, Mariana Chavez-Macgregor, Sharon H Giordano, Maria E Suarez-Almazor
Risks Of Mortality And Severe Coronavirus Disease 19 (Covid-19) Outcomes In Patients With Or Without Systemic Lupus Erythematosus, Sebastian Bruera, Xiudong Lei, Hui Zhao, Jinoos Yazdany, Mariana Chavez-Macgregor, Sharon H Giordano, Maria E Suarez-Almazor
Faculty, Staff and Student Publications
OBJECTIVES: We compared the outcomes of patients with or without systemic lupus erythematosus (SLE) who were diagnosed with coronavirus disease 19 (COVID-19) and evaluated factors within patients with SLE associated with severe outcomes.
METHODS: This retrospective cohort study used the deidentified Optum COVID-19 electronic health record dataset to identify patients with COVID-19 from 1/1/2020 to 31/12/2020. Cases with SLE were matched with general controls at a ratio of 1:10 by age, sex, race and ethnicity and COVID-19 diagnosis date. Outcomes included 30-day mortality, mechanical ventilation, hospitalisation and intensive care unit admission. We evaluated the relationship between COVID-19-related outcomes and SLE …
Superior Verbal Learning And Memory In Pediatric Brain Tumor Survivors Treated With Proton Versus Photon Radiotherapy, Lisa E Mash, Lisa S Kahalley, M Fatih Okcu, David R Grosshans, Arnold C Paulino, Heather Stancel, Luz De Leon, Elisabeth Wilde, Nilesh Desai, Zili D Chu, William E Whitehead, Murali Chintagumpala, Kimberly P Raghubar
Superior Verbal Learning And Memory In Pediatric Brain Tumor Survivors Treated With Proton Versus Photon Radiotherapy, Lisa E Mash, Lisa S Kahalley, M Fatih Okcu, David R Grosshans, Arnold C Paulino, Heather Stancel, Luz De Leon, Elisabeth Wilde, Nilesh Desai, Zili D Chu, William E Whitehead, Murali Chintagumpala, Kimberly P Raghubar
Faculty, Staff and Student Publications
OBJECTIVE: Radiotherapy for pediatric brain tumor has been associated with late cognitive effects. Compared to conventional photon radiotherapy (XRT), proton radiotherapy (PRT) delivers lower doses of radiation to healthy brain tissue. PRT has been associated with improved long-term cognitive outcomes compared to XRT. However, there is limited research comparing the effects of XRT and PRT on verbal memory.
METHOD: Survivors of pediatric brain tumor treated with either XRT (
RESULTS: Overall, patients receiving PRT demonstrated superior verbal learning and recall compared to those treated with XRT. Encoding and retrieval deficits were more common in the XRT group than the PRT …
Synthetic Assembly Dna Cloning To Build Plasmids For Multiplexed Transgenic Selection, Counterselection Or Any Other Genetic Strategies Using Drosophila Melanogaster, Koen J T Venken, Nick Matinyan, Yezabel Gonzalez, Alejandro Sarrion-Perdigones, Herman A Dierick
Synthetic Assembly Dna Cloning To Build Plasmids For Multiplexed Transgenic Selection, Counterselection Or Any Other Genetic Strategies Using Drosophila Melanogaster, Koen J T Venken, Nick Matinyan, Yezabel Gonzalez, Alejandro Sarrion-Perdigones, Herman A Dierick
Faculty, Staff and Students Publications
We recently described a drug-based selectable and counterselectable genetic platform for the animal model system Drosophila melanogaster, consisting of four resistance and two sensitivity markers that allow direct selection for, or counterselection against, a desired genotype. This platform eliminates the need to identify modified progeny by traditional laborious screening using dominant eye and body color markers, white+ and yellow+, respectively. The four resistance markers permit selection of animals using G418 sulfate, Puromycin HCl, Blasticidin S, or Hygromycin B, while the two sensitivity markers allow counterselection of animals against Ganciclovir or Acyclovir, and 5-Fluorocytosine. The six markers …
Potential And Pitfalls Of Pharmacovigilance Databases In Oncology, Ilana Schlam, Michael S Ewer, Sandra M Swain
Potential And Pitfalls Of Pharmacovigilance Databases In Oncology, Ilana Schlam, Michael S Ewer, Sandra M Swain
Duncan NRI Faculty and Staff Publications
No abstract provided.
Why Does The X Chromosome Lag Behind Autosomes In Gwas Findings?, Ivan P Gorlov, Christopher I Amos
Why Does The X Chromosome Lag Behind Autosomes In Gwas Findings?, Ivan P Gorlov, Christopher I Amos
Faculty, Staff and Students Publications
The X-chromosome is among the largest human chromosomes. It differs from autosomes by a number of important features including hemizygosity in males, an almost complete inactivation of one copy in females, and unique patterns of recombination. We used data from the Catalog of Published Genome Wide Association Studies to compare densities of the GWAS-detected SNPs on the X-chromosome and autosomes. The density of GWAS-detected SNPs on the X-chromosome is 6-fold lower compared to the density of the GWAS-detected SNPs on autosomes. Differences between the X-chromosome and autosomes cannot be explained by differences in the overall SNP density, lower X-chromosome coverage …
Pd-L1 Translocation To The Plasma Membrane Enables Tumor Immune Evasion Through Mib2 Ubiquitination, Xinfang Yu, Wei Li, Haidan Liu, Xu Wang, Cristian Coarfa, Chao Cheng, Xinlian Yu, Zhaoyang Zeng, Ya Cao, Ken H Young, Yong Li
Pd-L1 Translocation To The Plasma Membrane Enables Tumor Immune Evasion Through Mib2 Ubiquitination, Xinfang Yu, Wei Li, Haidan Liu, Xu Wang, Cristian Coarfa, Chao Cheng, Xinlian Yu, Zhaoyang Zeng, Ya Cao, Ken H Young, Yong Li
Faculty, Staff and Students Publications
Programmed death-ligand 1 (PD-L1), a critical immune checkpoint ligand, is a transmembrane protein synthesized in the endoplasmic reticulum of tumor cells and transported to the plasma membrane to interact with programmed death 1 (PD-1) expressed on T cell surface. This interaction delivers coinhibitory signals to T cells, thereby suppressing their function and allowing evasion of antitumor immunity. Most companion or complementary diagnostic devices for assessing PD-L1 expression levels in tumor cells used in the clinic or in clinical trials require membranous staining. However, the mechanism driving PD-L1 translocation to the plasma membrane after de novo synthesis is poorly understood. Herein, …
Serum Biomarkers Correlated With Liver Stiffness Assessed In A Multicenter Study Of Pediatric Cholestatic Liver Disease, Daniel H Leung, Sridevi Devaraj, Nathan P Goodrich, Xinpu Chen, Deepthi Rajapakshe, Wen Ye, Victor Andreev, Charles G Minard, Danielle Guffey, Jean P Molleston, Lee M Bass, Saul J Karpen, Binita M Kamath, Kasper S Wang, Shikha S Sundaram, Philip Rosenthal, Patrick Mckiernan, Kathleen M Loomes, M Kyle Jensen, Simon P Horslen, Jorge A Bezerra, John C Magee, Robert M Merion, Ronald J Sokol, Benjamin L Shneider, Estella Alonso, Lee Bass, Susan Kelly, Mary Riordan, Hector Melin-Aldana, Jorge Bezerra, Kevin Bove, James Heubi, Alexander Miethke, Greg Tiao, Julie Denlinger, Erin Chapman, Ronald Sokol, Amy Feldman, Cara Mack, Michael Narkewicz, Frederick Suchy, Shikha S Sundaram, Johan Van Hove, Benigno Garcia, Mikaela Kauma, Kendra Kocher, Matthew Steinbeiss, Mark Lovell, Kathleen M Loomes, David Piccoli, Elizabeth Rand, Pierre Russo, Nancy Spinner, Jessi Erlichman, Samantha Stalford, Dina Pakstis, Sakya King, Robert Squires, Rakesh Sindhi, Veena Venkat, Kathy Bukauskas, Patrick Mckiernan, Lori Haberstroh, James Squires, Philip Rosenthal, Laura Bull, Joanna Curry, Camille Langlois, Grace Kim, Jeffery Teckman, Vikki Kociela, Rosemary Nagy, Shraddha Patel, Jacqueline Cerkoski, Jean P Molleston, Molly Bozic, Girish Subbarao, Ann Klipsch, Cindy Sawyers, Oscar Cummings, Simon P Horslen, Karen Murray, Evelyn Hsu, Kara Cooper, Melissa Young, Laura Finn, Binita M Kamath, Vicky Ng, Claudia Quammie, Juan Putra, Deepika Sharma, Aishwarya Parmar, Stephen Guthery, Kyle Jensen, Ann Rutherford, Amy Lowichik, Linda Book, Rebecka Meyers, Tyler Hall, Kasper S Wang, Sonia Michail, Danny Thomas, Catherine Goodhue, Rohit Kohli, Larry Wang, Nisreen Soufi, Daniel Thomas, Saul Karpen, Nitika Gupta, Rene Romero, Miriam B Vos, Rita Tory, John-Paul Berauer, Carlos Abramowsky, Jeanette Mcfall, Benjamin L Shneider, Sanjiv Harpavat, Paula Hertel, Daniel Leung, Mary Tessier, Deborah Schady, Laurel Cavallo, Diego Olvera, Christina Banks, Cynthia Tsai, Richard Thompson, Edward Doo, Jay Hoofnagle, Averell Sherker, Rebecca Torrance, Sherry Hall, John Magee, Robert Merion, Cathie Spino, Wen Ye
Serum Biomarkers Correlated With Liver Stiffness Assessed In A Multicenter Study Of Pediatric Cholestatic Liver Disease, Daniel H Leung, Sridevi Devaraj, Nathan P Goodrich, Xinpu Chen, Deepthi Rajapakshe, Wen Ye, Victor Andreev, Charles G Minard, Danielle Guffey, Jean P Molleston, Lee M Bass, Saul J Karpen, Binita M Kamath, Kasper S Wang, Shikha S Sundaram, Philip Rosenthal, Patrick Mckiernan, Kathleen M Loomes, M Kyle Jensen, Simon P Horslen, Jorge A Bezerra, John C Magee, Robert M Merion, Ronald J Sokol, Benjamin L Shneider, Estella Alonso, Lee Bass, Susan Kelly, Mary Riordan, Hector Melin-Aldana, Jorge Bezerra, Kevin Bove, James Heubi, Alexander Miethke, Greg Tiao, Julie Denlinger, Erin Chapman, Ronald Sokol, Amy Feldman, Cara Mack, Michael Narkewicz, Frederick Suchy, Shikha S Sundaram, Johan Van Hove, Benigno Garcia, Mikaela Kauma, Kendra Kocher, Matthew Steinbeiss, Mark Lovell, Kathleen M Loomes, David Piccoli, Elizabeth Rand, Pierre Russo, Nancy Spinner, Jessi Erlichman, Samantha Stalford, Dina Pakstis, Sakya King, Robert Squires, Rakesh Sindhi, Veena Venkat, Kathy Bukauskas, Patrick Mckiernan, Lori Haberstroh, James Squires, Philip Rosenthal, Laura Bull, Joanna Curry, Camille Langlois, Grace Kim, Jeffery Teckman, Vikki Kociela, Rosemary Nagy, Shraddha Patel, Jacqueline Cerkoski, Jean P Molleston, Molly Bozic, Girish Subbarao, Ann Klipsch, Cindy Sawyers, Oscar Cummings, Simon P Horslen, Karen Murray, Evelyn Hsu, Kara Cooper, Melissa Young, Laura Finn, Binita M Kamath, Vicky Ng, Claudia Quammie, Juan Putra, Deepika Sharma, Aishwarya Parmar, Stephen Guthery, Kyle Jensen, Ann Rutherford, Amy Lowichik, Linda Book, Rebecka Meyers, Tyler Hall, Kasper S Wang, Sonia Michail, Danny Thomas, Catherine Goodhue, Rohit Kohli, Larry Wang, Nisreen Soufi, Daniel Thomas, Saul Karpen, Nitika Gupta, Rene Romero, Miriam B Vos, Rita Tory, John-Paul Berauer, Carlos Abramowsky, Jeanette Mcfall, Benjamin L Shneider, Sanjiv Harpavat, Paula Hertel, Daniel Leung, Mary Tessier, Deborah Schady, Laurel Cavallo, Diego Olvera, Christina Banks, Cynthia Tsai, Richard Thompson, Edward Doo, Jay Hoofnagle, Averell Sherker, Rebecca Torrance, Sherry Hall, John Magee, Robert Merion, Cathie Spino, Wen Ye
Faculty, Staff and Students Publications
BACKGROUND AND AIMS: Detailed investigation of the biological pathways leading to hepatic fibrosis and identification of liver fibrosis biomarkers may facilitate early interventions for pediatric cholestasis.
APPROACH AND RESULTS: A targeted enzyme-linked immunosorbent assay-based panel of nine biomarkers (lysyl oxidase, tissue inhibitor matrix metalloproteinase (MMP) 1, connective tissue growth factor [CTGF], IL-8, endoglin, periostin, Mac-2-binding protein, MMP-3, and MMP-7) was examined in children with biliary atresia (BA; n = 187), alpha-1 antitrypsin deficiency (A1AT; n = 78), and Alagille syndrome (ALGS; n = 65) and correlated with liver stiffness (LSM) and biochemical measures of liver disease. Median age and LSM …
Biallelic Variants In Ogdh Encoding Oxoglutarate Dehydrogenase Lead To A Neurodevelopmental Disorder Characterized By Global Developmental Delay, Movement Disorder, And Metabolic Abnormalities, Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J Carroll
Biallelic Variants In Ogdh Encoding Oxoglutarate Dehydrogenase Lead To A Neurodevelopmental Disorder Characterized By Global Developmental Delay, Movement Disorder, And Metabolic Abnormalities, Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J Carroll
Faculty, Staff and Students Publications
PURPOSE: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
METHODS: We performed a detailed clinical characterization of 4 unrelated individuals from consanguineous families with a neurodevelopmental disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, and functional analyses of variants in HEK293 cells and Drosophila melanogaster, as well as in proband-derived fibroblast cells.
RESULTS: In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme …
A Review Of Stellate Ganglion Block As An Adjunctive Treatment Modality, Kennedy Kirkpatrick, Mashfee H Khan, Yi Deng, Krishna B Shah
A Review Of Stellate Ganglion Block As An Adjunctive Treatment Modality, Kennedy Kirkpatrick, Mashfee H Khan, Yi Deng, Krishna B Shah
Faculty, Staff and Students Publications
Peripheral nerve blocks are becoming increasingly used as adjunctive treatment modalities for a variety of conditions refractory to medical management. Right or left stellate ganglion blocks (SGB) are a specific type of peripheral nerve block that target the sympathetic blockade of neuronal impulses using the injection of local anesthetic and steroids into nerve bundles in the cervical area. This review article is intended to summarize the common uses of stellate ganglion blocks and explain the procedural technique, which has evolved with technological advances in ultrasonography. The similarities between these disease processes are centered around sympathetic hyperactivity. This sympathetic overdrive state …
Disrupted White Matter Microstructure Correlates With Impulsivity In Children And Adolescents With Bipolar Disorder, Tianjia Zhu, Alessio Simonetti, Minhui Ouyang, Sherin Kurian, Johanna Saxena, Jair C Soares, Kirti Saxena, Hao Huang
Disrupted White Matter Microstructure Correlates With Impulsivity In Children And Adolescents With Bipolar Disorder, Tianjia Zhu, Alessio Simonetti, Minhui Ouyang, Sherin Kurian, Johanna Saxena, Jair C Soares, Kirti Saxena, Hao Huang
Faculty, Staff and Student Publications
Altered white matter (WM) microstructure likely occurs in children with bipolar disorder (BD) with impulsivity representing one of the core features. However, altered WM microstructures and their age-related trendlines in children with BD and those at high-risk of developing BD, as well as correlations of WM microstructures with impulsivity, have been poorly investigated. In this study, diffusion MRI, cognitive, and impulsivity assessments were obtained from children/adolescents diagnosed with BD, offspring of individuals with BD (high-risk BD) and age-matched healthy controls. A novel atlas-based WM skeleton measurement approach was used to quantify WM microstructural integrity with all diffusion-tensor-imaging (DTI) metrics including …
Structure Of The Lysosomal Mtorc1-Tfeb-Rag-Ragulator Megacomplex, Zhicheng Cui, Gennaro Napolitano, Mariana E G De Araujo, Alessandra Esposito, Jlenia Monfregola, Lukas A Huber, Andrea Ballabio, James H Hurley
Structure Of The Lysosomal Mtorc1-Tfeb-Rag-Ragulator Megacomplex, Zhicheng Cui, Gennaro Napolitano, Mariana E G De Araujo, Alessandra Esposito, Jlenia Monfregola, Lukas A Huber, Andrea Ballabio, James H Hurley
Duncan NRI Faculty and Staff Publications
The transcription factor TFEB is a master regulator of lysosomal biogenesis and autophagy1. The phosphorylation of TFEB by the mechanistic target of rapamycin complex 1 (mTORC1)2–5 is unique in its mTORC1 substrate recruitment mechanism, which is strictly dependent on the amino acid-mediated activation of the RagC GTPase activating protein FLCN6,7. TFEB lacks the TOR signalling motif responsible for the recruitment of other mTORC1 substrates. We used cryogenic-electron microscopy to determine the structure of TFEB as presented to mTORC1 for phosphorylation, which we refer to as the ‘megacomplex’. Two full Rag–Ragulator complexes …
Effortful Control Moderates The Relation Between Negative Emotionality And Child Anxiety And Depressive Symptom Severity In Children With Anxiety Disorders, Elizabeth M Raines, Andres G Viana, Erika S Trent, Haley E Conroy, Karina Silva, Michael J Zvolensky, Eric A Storch
Effortful Control Moderates The Relation Between Negative Emotionality And Child Anxiety And Depressive Symptom Severity In Children With Anxiety Disorders, Elizabeth M Raines, Andres G Viana, Erika S Trent, Haley E Conroy, Karina Silva, Michael J Zvolensky, Eric A Storch
Center for Medical Ethics and Health Policy Staff Publications
The present study investigated the interactive effect of reactive (negative emotionality) and regulatory (effortful control) aspects of temperament in the prediction of child anxiety and depressive symptoms. Clinically anxious children and their mothers completed a battery of questionnaires that included self- and mother-ratings of child effortful control, negative emotionality, anxiety, and depressive symptoms. Multiple regression analyses were conducted to examine the moderating effect of effortful control on the relation between negative emotionality and child anxiety and depressive symptom severity. The interaction between negative emotionality and effortful control was statistically significant and simple slopes revealed that as effortful control increased, the …
In Vivo Editing Of The Pan-Endothelium By Immunity Evading Simian Adenoviral Vector, Reka Lorincz, Aluet Borrego Alvarez, Christopher J Walkey, Samir A Mendonça, Zhi Hong Lu, Alexa E Martinez, Cecilia Ljungberg, Jason D Heaney, William R Lagor, David T Curiel
In Vivo Editing Of The Pan-Endothelium By Immunity Evading Simian Adenoviral Vector, Reka Lorincz, Aluet Borrego Alvarez, Christopher J Walkey, Samir A Mendonça, Zhi Hong Lu, Alexa E Martinez, Cecilia Ljungberg, Jason D Heaney, William R Lagor, David T Curiel
Faculty, Staff and Students Publications
Biological applications deriving from the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 site-specific nuclease system continue to impact and accelerate gene therapy strategies. Safe and effective in vivo co-delivery of the CRISPR/Cas9 system to target somatic cells is essential in the clinical therapeutic context. Both non-viral and viral vector systems have been applied for this delivery matter. Despite elegant proof-of-principle studies, available vector technologies still face challenges that restrict the application of CRISPR/Cas9-facilitated gene therapy. Of note, the mandated co-delivery of the gene-editing components must be accomplished in the potential presence of pre-formed anti-vector immunity. Additionally, methods must be sought …
Aortic Stress Activates An Adaptive Program In Thoracic Aortic Smooth Muscle Cells That Maintains Aortic Strength And Protects Against Aneurysm And Dissection In Mice, Chen Zhang, Yanming Li, Abhijit Chakraborty, Yang Li, Kimberly R Rebello, Pingping Ren, Wei Luo, Lin Zhang, Hong S Lu, Lisa A Cassis, Joseph S Coselli, Alan Daugherty, Scott A Lemaire, Ying H Shen
Aortic Stress Activates An Adaptive Program In Thoracic Aortic Smooth Muscle Cells That Maintains Aortic Strength And Protects Against Aneurysm And Dissection In Mice, Chen Zhang, Yanming Li, Abhijit Chakraborty, Yang Li, Kimberly R Rebello, Pingping Ren, Wei Luo, Lin Zhang, Hong S Lu, Lisa A Cassis, Joseph S Coselli, Alan Daugherty, Scott A Lemaire, Ying H Shen
Faculty, Staff and Students Publications
BACKGROUND:
When aortic cells are under stress, such as increased hemodynamic pressure, they adapt to the environment by modifying their functions, allowing the aorta to maintain its strength. To understand the regulation of this adaptive response, we examined transcriptomic and epigenomic programs in aortic smooth muscle cells (SMCs) during the adaptive response to angiotensin II (AngII) infusion and determined its importance in protecting against aortic aneurysm and dissection (AAD).
METHODS:
We performed single-cell RNA sequencing (scRNA-seq) and single-cell sequencing assay for transposase-accessible chromatin (scATAC-seq) analyses in a mouse model of sporadic AAD induced by AngII infusion. We also examined the …
Fecal Elastase In Preterm Infants To Predict Growth Outcomes, Lindsay F Holzapfel, Amy B Hair, Geoffrey A Preidis, Tripti Halder, Heeju Yang, Jana P Unger, Steven Freedman, Camilia R Martin
Fecal Elastase In Preterm Infants To Predict Growth Outcomes, Lindsay F Holzapfel, Amy B Hair, Geoffrey A Preidis, Tripti Halder, Heeju Yang, Jana P Unger, Steven Freedman, Camilia R Martin
Faculty, Staff and Student Publications
OBJECTIVES: Preterm infants are born functionally pancreatic insufficient with decreased pancreatic production of lipase and proteases. Developmental pancreatic insufficiency (PI) may contribute to reduced nutrient absorption and growth failure. We sought to determine longitudinal fecal elastase (ELA1) levels in a cohort of preterm infants and whether levels are associated with growth outcomes.
METHODS: Prospective observational study of 30 infants 24-34 weeks gestational age and birth weight ≤1250 g fed the exclusive human milk diet, consisting of human milk with human milk-based fortifier. ELA1 was quantified by ELISA during the first 2 weeks of life [Early; 7.5 ± 1.8 days of …
Functional And Clinical Studies Reveal Pathophysiological Complexity Of Clcn4-Related Neurodevelopmental Condition, Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy Mctague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe Mckenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty Mcwalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer
Functional And Clinical Studies Reveal Pathophysiological Complexity Of Clcn4-Related Neurodevelopmental Condition, Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy Mctague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe Mckenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty Mcwalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer
Faculty, Staff and Students Publications
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on …
Factors Affecting Adherence To Intranasal Treatment For Allergic Rhinitis: A Qualitative Study, Meha G Fox, Lauren M Cass, Kevin J Sykes, Emily L Cummings, Scott N Fassas, Rohit Nallani, Josh B Smith, Alexander G Chiu, Jennifer A Villwock
Factors Affecting Adherence To Intranasal Treatment For Allergic Rhinitis: A Qualitative Study, Meha G Fox, Lauren M Cass, Kevin J Sykes, Emily L Cummings, Scott N Fassas, Rohit Nallani, Josh B Smith, Alexander G Chiu, Jennifer A Villwock
Faculty, Staff and Students Publications
OBJECTIVE: To determine the facilitators of and barriers to adherence to use of intranasal pharmacotherapy (daily intranasal corticosteroids and/or antihistamine, and nasal saline irrigation [NSI]), for allergic rhinitis (AR).
METHODS: Patients were recruited from an academic tertiary care rhinology and allergy clinic. Semi-structured interviews were conducted after the initial visit and/or 4-6 weeks following treatment. Transcribed interviews were analyzed using a grounded theory, inductive approach to elucidate themes regarding patient adherence to AR treatment.
RESULTS: A total of 32 patients (12 male, 20 female; age 22-78) participated (seven at initial visit, seven at follow-up visit, and 18 at both). Memory …
Disparities In Mortality Among Acute Myeloid Leukemia-Related Hospitalizations, Sara Taveras Alam, Deepa Dongarwar, Elyse Lopez, Sarvari Yellapragada, Gustavo Rivero, Quillan Huang, Courtney Miler-Chism, Martha Mims, Hamisu M Salihu
Disparities In Mortality Among Acute Myeloid Leukemia-Related Hospitalizations, Sara Taveras Alam, Deepa Dongarwar, Elyse Lopez, Sarvari Yellapragada, Gustavo Rivero, Quillan Huang, Courtney Miler-Chism, Martha Mims, Hamisu M Salihu
Faculty, Staff and Student Publications
Racial and socioeconomic disparities have become apparent in acute myeloid leukemia (AML) outcomes. We conducted a retrospective cohort study of hospitalizations for adults with a diagnosis of AML from 2009 to 2018 in the Nationwide Inpatient Sample (NIS). We categorized patients' ages in groups of≥60 years and stratified them by reported race/ethnicity. Exposures of interest were patient sociodemographics, hospital characteristics, and Elixhauser-comorbidity Index. Outcome of interest was in-hospital death. Statistical analyses included survey logistic regression to generate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) to quantify the independent associations between patient characteristics and mortality. Of 622,417 AML-related hospitalizations, …
Fibrinogen-Like Protein 2: Its Biological Function Across Cell Types And The Potential To Serve As An Immunotherapy Target For Brain Tumors, Sheng Zhang, Ganesh Rao, Amy Heimberger, Shulin Li
Fibrinogen-Like Protein 2: Its Biological Function Across Cell Types And The Potential To Serve As An Immunotherapy Target For Brain Tumors, Sheng Zhang, Ganesh Rao, Amy Heimberger, Shulin Li
Faculty, Staff and Student Publications
Brain tumors are among the 10 leading causes of cancer-related death and present unique treatment challenges due to their critical location, genetic heterogeneity, and the blood-brain barrier. Recent advances in targeted immunotherapy and immune checkpoint blocking therapy provide alternative therapeutic strategies for brain tumors. Fibrinogen-like protein 2 (FGL2), which induces transformation from low-grade glioma to high-grade glioblastoma, is a type II membrane protein that is highly expressed in both host immune cells and tumor cells. Studies have uncovered multiple forms of FGL2 proteins with a broad range of roles in inducing immune tolerance and avoiding immune surveillance in tumor cells. …
Solid Organ Transplantation In Methylmalonic Acidemia And Propionic Acidemia: A Points To Consider Statement Of The American College Of Medical Genetics And Genomics (Acmg), Kuntal Sen, Lindsay C Burrage, Kimberly A Chapman, Ilona Ginevic, George V Mazariegos, Brett H Graham, Acmg Therapeutics Committe
Solid Organ Transplantation In Methylmalonic Acidemia And Propionic Acidemia: A Points To Consider Statement Of The American College Of Medical Genetics And Genomics (Acmg), Kuntal Sen, Lindsay C Burrage, Kimberly A Chapman, Ilona Ginevic, George V Mazariegos, Brett H Graham, Acmg Therapeutics Committe
Faculty, Staff and Students Publications
No abstract provided.
Preschool-Aged Household Contacts As A Risk Factor For Viral Respiratory Infections In Healthcare Personnel, Zachary M Most, Ann-Christine Nyquist, Lewis J Radonovich, Maria C Rodriguez-Barradas, Connie Savor Price, Michael S Simberkoff, Mary T Bessesen, Derek A T Cummings, Susan M Rattigan, Charlotte Warren-Gash, Charlotte A Gaydos, Cynthia L Gibert, Geoffrey J Gorse, Trish M Perl
Preschool-Aged Household Contacts As A Risk Factor For Viral Respiratory Infections In Healthcare Personnel, Zachary M Most, Ann-Christine Nyquist, Lewis J Radonovich, Maria C Rodriguez-Barradas, Connie Savor Price, Michael S Simberkoff, Mary T Bessesen, Derek A T Cummings, Susan M Rattigan, Charlotte Warren-Gash, Charlotte A Gaydos, Cynthia L Gibert, Geoffrey J Gorse, Trish M Perl
Faculty, Staff and Students Publications
BACKGROUND: Viral respiratory infections (VRIs) are common and are occupational risks for healthcare personnel (HCP). VRIs can also be acquired at home and other settings among HCPs. We sought to determine if preschool-aged household contacts are a risk factor for VRIs among HCPs working in outpatient settings.
METHODS: We conducted a secondary analysis of data from a cluster randomized trial at 7 medical centers in the United States over 4 influenza seasons from 2011-2012 to 2014-2015. Adult HCPs who routinely came within 6 feet of patients with respiratory infections were included. Participants were tested for respiratory viruses whenever symptomatic and …
Expert Consensus Statement: Management Of Pediatric Persistent Obstructive Sleep Apnea After Adenotonsillectomy, Stacey L Ishman, Stephen Maturo, Seth Schwartz, Margo Mckenna, Cristina M Baldassari, Mathieu Bergeron, Boris Chernobilsky, Zarmina Ehsan, Lisa Gagnon, Yi-Chun Carol Liu, David F Smith, Jeffrey Stanley, Habib Zalzal, Nui Dhepyasuwan
Expert Consensus Statement: Management Of Pediatric Persistent Obstructive Sleep Apnea After Adenotonsillectomy, Stacey L Ishman, Stephen Maturo, Seth Schwartz, Margo Mckenna, Cristina M Baldassari, Mathieu Bergeron, Boris Chernobilsky, Zarmina Ehsan, Lisa Gagnon, Yi-Chun Carol Liu, David F Smith, Jeffrey Stanley, Habib Zalzal, Nui Dhepyasuwan
Faculty, Staff and Students Publications
OBJECTIVE: To develop an expert consensus statement regarding persistent pediatric obstructive sleep apnea (OSA) focused on quality improvement and clarification of controversies. Persistent OSA was defined as OSA after adenotonsillectomy or OSA after tonsillectomy when adenoids are not enlarged.
METHODS: An expert panel of clinicians, nominated by stakeholder organizations, used the published consensus statement methodology from the American Academy of Otolaryngology-Head and Neck Surgery to develop statements for a target population of children aged 2-18 years. A medical librarian systematically searched the literature used as a basis for the clinical statements. A modified Delphi method was used to distill expert …
A Retrospective Study Of The Relationship Between Hypertension And Vestibular Disorders In Middle-Aged Women With And Without Hiv, Helen S Cohen, Michael W Plankey, Deanna Ware
A Retrospective Study Of The Relationship Between Hypertension And Vestibular Disorders In Middle-Aged Women With And Without Hiv, Helen S Cohen, Michael W Plankey, Deanna Ware
Faculty, Staff and Students Publications
BACKGROUND: Patients often conflate the problem of lightheadedness from hypertension (HTN) and vertigo from a vestibular impairment, describing both problems as dizziness. The goal of the study was to learn if there is a relationship between measures of vestibular function and blood pressure.
METHODS: This retrospective study consisted of women who participated in a longitudinal study of the human immunodeficiency virus (HIV) and a control cohort of age-matched women without HIV. We used data from the point in time when participants were tested for vestibular functions with bi-thermal caloric tests and cervical vestibular evoked myogenic potentials; the data also included …
Pediatric Rhabdomyosarcoma Incidence And Survival In The United States: An Assessment Of 5656 Cases, 2001–2017, Matthew T Mcevoy, David A Siegel, Shifan Dai, Mehmet Fatih Okcu, Mark Zobeck, Rajkumar Venkatramani, Philip J Lupo
Pediatric Rhabdomyosarcoma Incidence And Survival In The United States: An Assessment Of 5656 Cases, 2001–2017, Matthew T Mcevoy, David A Siegel, Shifan Dai, Mehmet Fatih Okcu, Mark Zobeck, Rajkumar Venkatramani, Philip J Lupo
Faculty, Staff and Students Publications
BACKGROUND: While rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents, past epidemiology studies of this malignancy used data that covered
METHODS: Incidence and survival were assessed for pediatric patients diagnosed with RMS during 2003-2017 and 2001-2016, respectively. Both demographic and clinical variables were evaluated. Age-adjusted incidence rates, average annual percent change (AAPC), and 5-year relative survival (RS) were calculated, all with corresponding 95% confidence intervals (CIs). Cox regression models were used to evaluate the impact of demographic and clinical variables on survival.
RESULTS: We identified 5656 primary RMS cases in USCS during 2003-2017. The age-adjusted …
Sars-Cov-2 Seroprevalence In Children Worldwide: A Systematic Review And Meta-Analysis, Reza Naeimi, Mahdi Sepidarkish, Abolfazl Mollalo, Hamid Parsa, Sanaz Mahjour, Fatemeh Safarpour, Mustafa Almukhtar, Amal Mechaal, Hiam Chemaitelly, Behnam Sartip, Elika Marhoommirzabak, Ali Ardekani, Peter J Hotez, Robin B Gasser, Ali Rostami
Sars-Cov-2 Seroprevalence In Children Worldwide: A Systematic Review And Meta-Analysis, Reza Naeimi, Mahdi Sepidarkish, Abolfazl Mollalo, Hamid Parsa, Sanaz Mahjour, Fatemeh Safarpour, Mustafa Almukhtar, Amal Mechaal, Hiam Chemaitelly, Behnam Sartip, Elika Marhoommirzabak, Ali Ardekani, Peter J Hotez, Robin B Gasser, Ali Rostami
Faculty, Staff and Students Publications
BACKGROUND: The higher hospitalisation rates of those aged 0-19 years (referred to herein as 'children') observed since the emergence of the immune-evasive SARS-CoV-2 Omicron variant and subvariants, along with the persisting vaccination disparities highlighted a need for in-depth knowledge of SARS-CoV-2 sero-epidemiology in children. Here, we conducted this systematic review to assess SARS-CoV-2 seroprevalence and determinants in children worldwide.
METHODS: In this systematic review and meta-analysis study, we searched international and preprinted scientific databases from December 1, 2019 to July 10, 2022. Pooled seroprevalences were estimated according to World Health Organization (WHO) regions (at 95% confidence intervals, CIs) using random-effects …
Challenges And Opportunities In Academic Physiatry: An Environmental Scan, David C Morgenroth, Tiffany Knowlton, Susan Apkon, Cheri A Blauwet, Anthony S Burns, Cecilia Córdova Vallejos, Walter Frontera, Sandra L Hearn, Prakash Jayabalan, Peter A Lim, Alex Moroz, Danielle Perret, Danielle Powell, Matt Puderbaugh, W Evan Rivers, Gwendolyn Sowa, Monica Verduzco-Gutierrez, Pablo A Celnik
Challenges And Opportunities In Academic Physiatry: An Environmental Scan, David C Morgenroth, Tiffany Knowlton, Susan Apkon, Cheri A Blauwet, Anthony S Burns, Cecilia Córdova Vallejos, Walter Frontera, Sandra L Hearn, Prakash Jayabalan, Peter A Lim, Alex Moroz, Danielle Perret, Danielle Powell, Matt Puderbaugh, W Evan Rivers, Gwendolyn Sowa, Monica Verduzco-Gutierrez, Pablo A Celnik
Faculty, Staff and Students Publications
Environmental scans determine trends in an organization's or field's internal and external environment. The results can help shape goals, inform strategic decision making, and direct future actions. The Association of Academic Physiatrists convened a strategic planning group in 2020, composed of physiatrists representing a diversity of professional roles, career stages, race and ethnicity, gender, disability status, and geographic areas of practice. This strategic planning group performed an environmental scan to assess the forces, trends, challenges, and opportunities affecting both the Association of Academic Physiatrists and the entire field of academic physiatry (also known as physical medicine and rehabilitation, physical and …