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Articles 14731 - 14760 of 26004

Full-Text Articles in Medicine and Health Sciences

Prehospital Stroke Care Part 2: On-Scene Evaluation And Management By Emergency Medical Services Practitioners, Christopher T Richards, J Adam Oostema, Sherita N Chapman, Lauren E Mamer, Ethan S Brandler, Anne W Alexandrov, Alexandra L Czap, Juan Carlos Martinez-Gutierrez, Christian Martin-Gill, Ashish R Panchal, Jason T Mcmullan, Kori S Zachrison May 2023

Prehospital Stroke Care Part 2: On-Scene Evaluation And Management By Emergency Medical Services Practitioners, Christopher T Richards, J Adam Oostema, Sherita N Chapman, Lauren E Mamer, Ethan S Brandler, Anne W Alexandrov, Alexandra L Czap, Juan Carlos Martinez-Gutierrez, Christian Martin-Gill, Ashish R Panchal, Jason T Mcmullan, Kori S Zachrison

Faculty, Staff and Student Publications

The prehospital phase is a critical component of delivering high-quality acute stroke care. This topical review discusses the current state of prehospital acute stroke screening and transport, as well as new and emerging advances in prehospital diagnosis and treatment of acute stroke. Topics include prehospital stroke screening, stroke severity screening, emerging technologies to aid in the identification and diagnosis of acute stroke in the prehospital setting, prenotification of receiving emergency departments, decision support for destination determination, and the capabilities and opportunities for prehospital stroke treatment in mobile stroke units. Further evidence-based guideline development and implementation of new technologies are critical …


Human Papillomavirus Vaccination Prevalence And Disproportionate Cancer Burden Among Us Veterans, Smrithi Chidambaram, Su-Hsin Chang, Vlad C Sandulache, Angela L Mazul, Jose P Zevallos May 2023

Human Papillomavirus Vaccination Prevalence And Disproportionate Cancer Burden Among Us Veterans, Smrithi Chidambaram, Su-Hsin Chang, Vlad C Sandulache, Angela L Mazul, Jose P Zevallos

Faculty, Staff and Students Publications

This cross-sectional study examines the rate of HPV vaccination and the number eligible for this vaccination among younger veterans and civilians.


A Weakly Structured Stem For Human Origins In Africa, Aaron P Ragsdale, Timothy D Weaver, Elizabeth G Atkinson, Eileen G Hoal, Marlo Möller, Brenna M Henn, Simon Gravel May 2023

A Weakly Structured Stem For Human Origins In Africa, Aaron P Ragsdale, Timothy D Weaver, Elizabeth G Atkinson, Eileen G Hoal, Marlo Möller, Brenna M Henn, Simon Gravel

Faculty, Staff and Students Publications

Despite broad agreement that Homo sapiens originated in Africa, considerable uncertainty surrounds specific models of divergence and migration across the continent1. Progress is hampered by a shortage of fossil and genomic data, as well as variability in previous estimates of divergence times1. Here we seek to discriminate among such models by considering linkage disequilibrium and diversity-based statistics, optimized for rapid, complex demographic inference2. We infer detailed demographic models for populations across Africa, including eastern and western representatives, and newly sequenced whole genomes from 44 Nama (Khoe-San) individuals from southern Africa. We infer a reticulated …


Alveolar Rhabdomyosarcoma Has Superior Response Rates To Vinorelbine Compared To Embryonal Rhabdomyosarcoma In Patients With Relapsed/Refractory Disease: A Meta-Analysis, Wendy Allen-Rhoades, Philip J Lupo, Michael E Scheurer, Yueh-Yun Chi, John F Kuttesch, Rajkumar Venkatramani, William H Meyer, Leo Mascarenhas May 2023

Alveolar Rhabdomyosarcoma Has Superior Response Rates To Vinorelbine Compared To Embryonal Rhabdomyosarcoma In Patients With Relapsed/Refractory Disease: A Meta-Analysis, Wendy Allen-Rhoades, Philip J Lupo, Michael E Scheurer, Yueh-Yun Chi, John F Kuttesch, Rajkumar Venkatramani, William H Meyer, Leo Mascarenhas

Faculty, Staff and Students Publications

BACKGROUND: Patients with alveolar rhabdomyosarcoma (ARMS) have inferior outcomes compared to patients with embryonal rhabdomyosarcoma (ERMS) and more effective chemotherapy options are needed for these patients. Vinorelbine is a semisynthetic vinca alkaloid that has clinical activity in relapsed rhabdomyosarcoma (RMS) when used alone or in combination with cyclophosphamide.

AIMS: The goal of our study was to evaluate whether RMS histology subtype influences response rate to vinorelbine alone or in combination.

MATERIALS & METHODS: Five Phase 2 trials that enrolled RMS patients were included in the meta-analysis. Two studies evaluated vinorelbine alone, two studies evaluated vinorelbine in combination with low dose …


Epigenetic Age Acceleration Among Survivors Of Pediatric Medulloblastoma And Primitive Neuroectodermal Tumor, Rachel D Harris, Melissa A Richard, Maria Monica J Gramatges, Kevin Wilhelm, Michael E Scheurer, Philip J Lupo, Austin L Brown May 2023

Epigenetic Age Acceleration Among Survivors Of Pediatric Medulloblastoma And Primitive Neuroectodermal Tumor, Rachel D Harris, Melissa A Richard, Maria Monica J Gramatges, Kevin Wilhelm, Michael E Scheurer, Philip J Lupo, Austin L Brown

Faculty, Staff and Students Publications

Survivors of childhood central nervous system (CNS) tumors experience early-onset aging-related phenotypes. DNA methylation (DNAm) age is an emerging epigenetic biomarker of physiologic age and may be predictive of chronic health conditions in long-term survivors. This report describes the course of epigenetic age acceleration using post-diagnosis blood samples (median: 3.9 years post-diagnosis; range: 0.04–15.96) from 83 survivors of pediatric CNS tumors. Epigenetic age acceleration was detected in 72% of patients, with an average difference between chronologic and dnam age of 2.58 years (95% Ci: 1.75–3.41, p < 0.001). Time from diagnosis to sample collection correlated with the magnitude of epigenetic age acceleration.


Prevalence And Descriptive Epidemiology Of Turner Syndrome In The United States, 2000-2017: A Report From The National Birth Defects Prevention Network, Bailey A Martin-Giacalone, Angela E Lin, Sonja A Rasmussen, Russell S Kirby, Eirini Nestoridi, Rebecca F Liberman, A J Agopian, John C Carey, Janet D Cragan, Nina Forestieri, Vinita Leedom, Aubree Boyce, Wendy N Nembhard, Monika Piccardi, Theresa Sandidge, Xiaoyi Shan, Charles J Shumate, Erin B Stallings, Roger Stevenson, Philip J Lupo May 2023

Prevalence And Descriptive Epidemiology Of Turner Syndrome In The United States, 2000-2017: A Report From The National Birth Defects Prevention Network, Bailey A Martin-Giacalone, Angela E Lin, Sonja A Rasmussen, Russell S Kirby, Eirini Nestoridi, Rebecca F Liberman, A J Agopian, John C Carey, Janet D Cragan, Nina Forestieri, Vinita Leedom, Aubree Boyce, Wendy N Nembhard, Monika Piccardi, Theresa Sandidge, Xiaoyi Shan, Charles J Shumate, Erin B Stallings, Roger Stevenson, Philip J Lupo

Faculty, Staff and Students Publications

The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 …


Covid19-Associated New-Onset Movement Disorders: A Follow-Up Study, Susanne A Schneider, Soaham Desai, Onanong Phokaewvarangkul, Elena Cecilia Rosca, Jirada Sringean, Pria Anand, Gary Álvarez Bravo, Francisco Cardoso, Anna M Cervantes-Arslanian, Harshad Chovatiya, David Crosiers, Femke Dijkstra, Conor Fearon, Francisco Grandas, Eric Guedj, Antonio Méndez-Guerrero, Muhammad Hassan, Joseph Jankovic, Anthony E Lang, Karim Makhoul, Lorenzo Muccioli, Sarah A O'Shea, Vahid Reza Ostovan, Javier Ricardo Perez-Sanchez, Ritesh Ramdhani, Victoria Ros-Castelló, Christina Schulte, Priyank Shah, Lars Wojtecki, Pramod Kumar Pal May 2023

Covid19-Associated New-Onset Movement Disorders: A Follow-Up Study, Susanne A Schneider, Soaham Desai, Onanong Phokaewvarangkul, Elena Cecilia Rosca, Jirada Sringean, Pria Anand, Gary Álvarez Bravo, Francisco Cardoso, Anna M Cervantes-Arslanian, Harshad Chovatiya, David Crosiers, Femke Dijkstra, Conor Fearon, Francisco Grandas, Eric Guedj, Antonio Méndez-Guerrero, Muhammad Hassan, Joseph Jankovic, Anthony E Lang, Karim Makhoul, Lorenzo Muccioli, Sarah A O'Shea, Vahid Reza Ostovan, Javier Ricardo Perez-Sanchez, Ritesh Ramdhani, Victoria Ros-Castelló, Christina Schulte, Priyank Shah, Lars Wojtecki, Pramod Kumar Pal

Faculty, Staff and Students Publications

BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited.

METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed.

RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 66.8 years) the movement disorder (ataxia, myoclonus, tremor, parkinsonism) was still present after a follow-up …


Food Insecurity, Snap Participation And Glycemic Control In Low-Income Adults With Predominantly Type 2 Diabetes: A Cross-Sectional Analysis Using Nhanes 2007-2018 Data, Oluwatobi Alawode, Sarah Humble, Cynthia J Herrick May 2023

Food Insecurity, Snap Participation And Glycemic Control In Low-Income Adults With Predominantly Type 2 Diabetes: A Cross-Sectional Analysis Using Nhanes 2007-2018 Data, Oluwatobi Alawode, Sarah Humble, Cynthia J Herrick

2020-Current year OA Pubs

INTRODUCTION: Diabetes, characterized by elevated blood glucose levels, affects 13% of US adults, 95% of whom have type 2 diabetes (T2D). Social determinants of health (SDoH), such as food insecurity, are integral to glycemic control. The Supplemental Nutrition Assistance Program (SNAP) aims to reduce food insecurity, but it is not clear how this affects glycemic control in T2D. This study investigated the associations between food insecurity and other SDoH and glycemic control and the role of SNAP participation in a national socioeconomically disadvantaged sample.

RESEARCH DESIGN AND METHODS: Adults with likely T2D and income

RESULTS: The study population included 2084 …


Aspirin And Immunotherapy: A Faustian Bargain?, Eric A Goethe, Amy B Heimberger, Ganesh Rao May 2023

Aspirin And Immunotherapy: A Faustian Bargain?, Eric A Goethe, Amy B Heimberger, Ganesh Rao

Faculty, Staff and Students Publications

Fibrinogen-like protein 1 (FGL1) has been associated with improved survival in hepatocellular carcinoma (HCC). However, recent evidence suggests that FGL1 may bind to surface receptors on lymphocytes and induce immune senescence. In this issue of the JCI, Lin and co-authors show that FGL1 may be acetylated by aspirin and targeted for degradation, which is associated with increased antitumor immunity and improved survival. Similar findings were obtained with inhibitors of sirtuin 2 (SIRT2), a histone deacetylase. These findings expand our current understanding of the role of FGL1 in cancer and provide an impetus for the evaluation of alternative immunotherapy combinations in …


Middle Meningeal Artery Embolization For Chronic Subdural Hematoma: Predictors Of Clinical And Radiographic Failure From 636 Embolizations, Mohamed M Salem, Okkes Kuybu, Alex Nguyen Hoang, Ammad A Baig, Mirhojjat Khorasanizadeh, Cordell Baker, Joshua C Hunsaker, Aldo A Mendez, Gustavo Cortez, Jason M Davies, Sandra Narayanan, C Michael Cawley, Howard A Riina, Justin M Moore, Alejandro M Spiotta, Alexander A Khalessi, Brian M Howard, Ricardo Hanel, Omar Tanweer, Elad I Levy, Ramesh Grandhi, Michael J Lang, Adnan H Siddiqui, Peter Kan, Christopher S Ogilvy, Bradley A Gross, Ajith J Thomas, Brian T Jankowitz, Jan-Karl Burkhardt May 2023

Middle Meningeal Artery Embolization For Chronic Subdural Hematoma: Predictors Of Clinical And Radiographic Failure From 636 Embolizations, Mohamed M Salem, Okkes Kuybu, Alex Nguyen Hoang, Ammad A Baig, Mirhojjat Khorasanizadeh, Cordell Baker, Joshua C Hunsaker, Aldo A Mendez, Gustavo Cortez, Jason M Davies, Sandra Narayanan, C Michael Cawley, Howard A Riina, Justin M Moore, Alejandro M Spiotta, Alexander A Khalessi, Brian M Howard, Ricardo Hanel, Omar Tanweer, Elad I Levy, Ramesh Grandhi, Michael J Lang, Adnan H Siddiqui, Peter Kan, Christopher S Ogilvy, Bradley A Gross, Ajith J Thomas, Brian T Jankowitz, Jan-Karl Burkhardt

Faculty, Staff and Students Publications

Background

Knowledge regarding predictors of clinical and radiographic failures of middle meningeal artery (MMA) embolization (MMAE) treatment for chronic subdural hematoma (CSDH) is limited.

Purpose

To identify predictors of MMAE treatment failure for CSDH.

Materials and Methods

In this retrospective study, consecutive patients who underwent MMAE for CSDH from February 2018 to April 2022 at 13 U.S. centers were included. Clinical failure was defined as hematoma reaccumulation and/or neurologic deterioration requiring rescue surgery. Radiographic failure was defined as a maximal hematoma thickness reduction less than 50% at last imaging (minimum 2 weeks of head CT follow-up). Multivariable logistic regression models …


Functional Screening Of Lysosomal Storage Disorder Genes Identifies Modifiers Of Alpha-Synuclein Neurotoxicity, Meigen Yu, Hui Ye, Ruth B De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V Lee, Yarong Li, Duc Duong, Bridget Phillips, Carlos Cruchaga, Genevera I Allen, Nicholas T Seyfried, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman May 2023

Functional Screening Of Lysosomal Storage Disorder Genes Identifies Modifiers Of Alpha-Synuclein Neurotoxicity, Meigen Yu, Hui Ye, Ruth B De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V Lee, Yarong Li, Duc Duong, Bridget Phillips, Carlos Cruchaga, Genevera I Allen, Nicholas T Seyfried, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman

Faculty, Staff and Students Publications

Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also causes the autosomal recessive lysosomal storage disorder (LSD), Gaucher disease, and emerging evidence from human genetics implicates many other LSD genes in PD susceptibility. We have systemically tested 86 conserved fly homologs of 37 human LSD genes for requirements in the aging adult Drosophila brain and for potential genetic interactions with neurodegeneration caused by α-synuclein (αSyn), which forms Lewy body pathology in PD. Our screen identifies 15 genetic enhancers of αSyn-induced progressive locomotor dysfunction, including knockdown of fly homologs of GBA …


Cascade Testing After Exome Sequencing: Retrospective Analysis Of Linked Family Data At 2 Us Laboratories, Julie Stefka, Haley Streff, Pengfei Liu, Meghan Towne, Hadley Stevens Smith May 2023

Cascade Testing After Exome Sequencing: Retrospective Analysis Of Linked Family Data At 2 Us Laboratories, Julie Stefka, Haley Streff, Pengfei Liu, Meghan Towne, Hadley Stevens Smith

Faculty, Staff and Students Publications

Purpose: Cascade testing, the process of testing a proband's at-risk relatives, is integral to realizing the full value of genomic sequencing. However, there is little empirical evidence on the uptake of cascade testing after a positive exome sequencing (ES) result in a population of probands with diverse clinical indications.

Methods: We retrospectively reviewed administrative data from 2 US clinical laboratories that perform ES. For each proband with a positive ES result, we used linked family data to describe the frequency of relatives' cascade testing performed at the same laboratory, variant detection yield of cascade tests, and characteristics of probands and …


Exosomes, Microvesicles, And Other Extracellular Vesicles-A Keystone Symposia Report, Jennifer Cable, Kenneth W Witwer, Robert J Coffey, Aleksandar Milosavljevic, Ariana K Von Lersner, Lizandra Jimenez, Ferdinando Pucci, Maureen M Barr, Niek Dekker, Bahnisikha Barman, Daniel Humphrys, Justin Williams, Michele De Palma, Wei Guo, Nuno Bastos, Andrew F Hill, Efrat Levy, Michael P Hantak, Clair Crewe, Elena Aikawa, Alan M Adamczyk, Tamires M Zanotto, Matias Ostrowski, Tanina Arab, Daniel C Rabe, Aadil Sheikh, Danilo Rodrigues Da Silva, Jennifer C Jones, Chioma Okeoma, Thomas Gaborski, Qin Zhang, Olesia Gololobova May 2023

Exosomes, Microvesicles, And Other Extracellular Vesicles-A Keystone Symposia Report, Jennifer Cable, Kenneth W Witwer, Robert J Coffey, Aleksandar Milosavljevic, Ariana K Von Lersner, Lizandra Jimenez, Ferdinando Pucci, Maureen M Barr, Niek Dekker, Bahnisikha Barman, Daniel Humphrys, Justin Williams, Michele De Palma, Wei Guo, Nuno Bastos, Andrew F Hill, Efrat Levy, Michael P Hantak, Clair Crewe, Elena Aikawa, Alan M Adamczyk, Tamires M Zanotto, Matias Ostrowski, Tanina Arab, Daniel C Rabe, Aadil Sheikh, Danilo Rodrigues Da Silva, Jennifer C Jones, Chioma Okeoma, Thomas Gaborski, Qin Zhang, Olesia Gololobova

Faculty, Staff and Students Publications

Extracellular vesicles (EVs) are small, lipid-bilayer-bound particles released by cells that can contain important bioactive molecules, including lipids, RNAs, and proteins. Once released in the extracellular environment, EVs can act as messengers locally as well as to distant tissues to coordinate tissue homeostasis and systemic responses. There is a growing interest in not only understanding the physiology of EVs as signaling particles but also leveraging them as minimally invasive diagnostic and prognostic biomarkers (e.g., they can be found in biofluids) and drug-delivery vehicles. On October 30-November 2, 2022, researchers in the EV field convened for the Keystone symposium "Exosomes, Microvesicles, …


Obstructive Sleep Apnea Modulates Clinical Outcomes Post-Acute Myocardial Infarction: A Large Longitudinal Veterans’ Dataset Report, Ritwick Agrawal, Amir Sharafkhaneh, Vijay Nambi, Ahmed Bahammam, Javad Razjouyan May 2023

Obstructive Sleep Apnea Modulates Clinical Outcomes Post-Acute Myocardial Infarction: A Large Longitudinal Veterans’ Dataset Report, Ritwick Agrawal, Amir Sharafkhaneh, Vijay Nambi, Ahmed Bahammam, Javad Razjouyan

Faculty, Staff and Students Publications

BACKGROUND: While the longer-term Obstructive Sleep apnea (OSA)-related intermittent hypoxia (IH) leads to various comorbidities, it has become increasingly evident that OSA confers protective advantages during and after acute myocardial infarction (AMI). We hypothesized in patients who were admitted with acute MI, the presence of OSA is associated with lower in-hospital mortality compared to those without a prior diagnosis of OSA.

METHODS: In this nationwide retrospective study utilizing Veterans Health Administration records, we included patients hospitalized for MI with a history of sleep disorders from 1999 to 2020. We divided patients into two cohorts: those with OSA and those without …


Epidemiology Of Retinopathy Of Prematurity In The Us From 2003 To 2019, Anshul Bhatnagar, Henry C Skrehot, Amit Bhatt, Honey Herce, Christina Y Weng May 2023

Epidemiology Of Retinopathy Of Prematurity In The Us From 2003 To 2019, Anshul Bhatnagar, Henry C Skrehot, Amit Bhatt, Honey Herce, Christina Y Weng

Faculty, Staff and Students Publications

IMPORTANCE: Retinopathy of prematurity (ROP) is a potentially blinding retinal disease with poorly defined epidemiology. Understanding of which infants are most at risk for developing ROP may foster targeted detection and prevention efforts.

OBJECTIVE: To identify changes in ROP incidence in the US from 2003 to 2019.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective database cohort study used the Healthcare Cost and Utilization Project Kids' Inpatient Databases. These nationwide databases are produced every 3 years, include data from over 4000 hospitals, and are designed to generate national estimates of health care trends in the US. Participants included pediatric newborns at risk …


Using Natural Language Processing To Automatically Identify Dysplasia In Pathology Reports For Patients With Barrett's Esophagus, Theresa Nguyen Wenker, Yamini Natarajan, Kadon Caskey, Francisco Novoa, Nabil Mansour, Huy Anh Pham, Jason K Hou, Hashem B El-Serag, Aaron P Thrift May 2023

Using Natural Language Processing To Automatically Identify Dysplasia In Pathology Reports For Patients With Barrett's Esophagus, Theresa Nguyen Wenker, Yamini Natarajan, Kadon Caskey, Francisco Novoa, Nabil Mansour, Huy Anh Pham, Jason K Hou, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Identifying dysplasia of Barrett's esophagus (BE) in the electronic medical record (EMR) requires manual abstraction of unstructured data. Natural language processing (NLP) creates structure to unstructured free text. We aimed to develop and validate an NLP algorithm to identify dysplasia in BE patients on histopathology reports with varying report formats in a large integrated EMR system.

METHODS: We randomly selected 600 pathology reports for NLP development and 400 reports for validation from patients with suspected BE in the national Veterans Affairs databases. BE and dysplasia were verified by manual review of the pathology reports. We used NLP …


Bladder Mucosal Cystitis Cystica Lesions Are Tertiary Lymphoid Tissues That Correlate With Recurrent Urinary Tract Infection Frequency In Postmenopausal Women, Marianne M Ligon, Brooke Liang, Stacy M Lenger, Priyanka Parameswaran, Siobhan Sutcliffe, Jerry L Lowder, Indira U Mysorekar May 2023

Bladder Mucosal Cystitis Cystica Lesions Are Tertiary Lymphoid Tissues That Correlate With Recurrent Urinary Tract Infection Frequency In Postmenopausal Women, Marianne M Ligon, Brooke Liang, Stacy M Lenger, Priyanka Parameswaran, Siobhan Sutcliffe, Jerry L Lowder, Indira U Mysorekar

Faculty, Staff and Students Publications

PURPOSE: We identify correlates and clinical outcomes of cystitis cystica, a poorly understood chronic inflammatory bladder change, in women with recurrent urinary tract infections.

MATERIALS AND METHODS: A retrospective, observational cohort of women with recurrent urinary tract infections who underwent cystoscopy (n=138) from 2015 to 2018 were identified using electronic medical records. Cystitis cystica status was abstracted from cystoscopy reports and correlations were identified by logistic regression. Urinary tract infection-free survival time associated with cystitis cystica was evaluated by Cox proportional hazards regression. Exact logistic regression was used to identify factors associated with changes to cystitis cystica lesions on repeat …


Functional Screening Of Lysosomal Storage Disorder Genes Identifies Modifiers Of Alpha-Synuclein Neurotoxicity, Meigen Yu, Hui Ye, Ruth B. De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V. Lee, Yarong Li, Duc Duong, Bridget Phillips, Carlos Cruchaga, Genevera I. Allen, Nicholas T. Seyfried, Ismael Al-Ramahi, Juan Botas, Joshua M. Shulman May 2023

Functional Screening Of Lysosomal Storage Disorder Genes Identifies Modifiers Of Alpha-Synuclein Neurotoxicity, Meigen Yu, Hui Ye, Ruth B. De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V. Lee, Yarong Li, Duc Duong, Bridget Phillips, Carlos Cruchaga, Genevera I. Allen, Nicholas T. Seyfried, Ismael Al-Ramahi, Juan Botas, Joshua M. Shulman

2020-Current year OA Pubs

Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also causes the autosomal recessive lysosomal storage disorder (LSD), Gaucher disease, and emerging evidence from human genetics implicates many other LSD genes in PD susceptibility. We have systemically tested 86 conserved fly homologs of 37 human LSD genes for requirements in the aging adult Drosophila brain and for potential genetic interactions with neurodegeneration caused by α-synuclein (αSyn), which forms Lewy body pathology in PD. Our screen identifies 15 genetic enhancers of αSyn-induced progressive locomotor dysfunction, including knockdown of fly homologs of GBA …


Genome-Wide Analysis Of Structural Variants In Parkinson Disease, Kimberley J Billingsley, Jinhui Ding, Pilar Alvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P Grenn, Mary B Makarious, Anni Moore, Daniel Vitale, Xylena Reed, Dena Hernandez, Ali Torkamani, Mina Ryten, John Hardy, Uk Brain Expression Consortium (Ukbec), Ruth Chia, Sonja W Scholz, Bryan J Traynor, Clifton L Dalgard, Debra J Ehrlich, Toshiko Tanaka, Luigi Ferrucci, Thomas G Beach, Geidy E Serrano, John P Quinn, Vivien J Bubb, Ryan L Collins, Xuefang Zhao, Mark Walker, Emma Pierce-Hoffman, Harrison Brand, Michael E Talkowski, Bradford Casey, Mark R Cookson, Androo Markham, Mike A Nalls, Medhat Mahmoud, Fritz J Sedlazeck, Cornelis Blauwendraat, J Raphael Gibbs, Andrew B Singleton May 2023

Genome-Wide Analysis Of Structural Variants In Parkinson Disease, Kimberley J Billingsley, Jinhui Ding, Pilar Alvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P Grenn, Mary B Makarious, Anni Moore, Daniel Vitale, Xylena Reed, Dena Hernandez, Ali Torkamani, Mina Ryten, John Hardy, Uk Brain Expression Consortium (Ukbec), Ruth Chia, Sonja W Scholz, Bryan J Traynor, Clifton L Dalgard, Debra J Ehrlich, Toshiko Tanaka, Luigi Ferrucci, Thomas G Beach, Geidy E Serrano, John P Quinn, Vivien J Bubb, Ryan L Collins, Xuefang Zhao, Mark Walker, Emma Pierce-Hoffman, Harrison Brand, Michael E Talkowski, Bradford Casey, Mark R Cookson, Androo Markham, Mike A Nalls, Medhat Mahmoud, Fritz J Sedlazeck, Cornelis Blauwendraat, J Raphael Gibbs, Andrew B Singleton

Faculty, Staff and Students Publications

OBJECTIVE: Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal variants for most PD risk are not known. Here we focused on structural variants (SVs), which represent a major source of genetic variation in the human genome. We aimed to discover SVs associated with PD risk by performing the first large-scale characterization of SVs in PD.

METHODS: We leveraged a recently developed computational pipeline to detect and genotype SVs from 7,772 …


Mitigating The Associations Of Kidney Dysfunction With Blood Biomarkers Of Alzheimer Disease By Using Phosphorylated Tau To Total Tau Ratios, Shorena Janelidze, Nicolas R Barthélemy, Yingxin He, Randall J Bateman, Oskar Hansson May 2023

Mitigating The Associations Of Kidney Dysfunction With Blood Biomarkers Of Alzheimer Disease By Using Phosphorylated Tau To Total Tau Ratios, Shorena Janelidze, Nicolas R Barthélemy, Yingxin He, Randall J Bateman, Oskar Hansson

2020-Current year OA Pubs

IMPORTANCE: Chronic kidney disease (CKD) has been associated with increased plasma concentrations of phosphorylated tau (p-tau) 217 and p-tau181, which potentially decreases their usefulness in the diagnostic workup of Alzheimer disease (AD).

OBJECTIVE: To investigate associations of CKD with plasma ratios of p-tau217 and p-tau181 to the corresponding unphosphorylated peptides in AD.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study included patients with mild cognitive impairment (cohort 1; enrollment in 2000-2005) and replication in cohort 2 from the Swedish BioFINDER-2 study, including both cognitively unimpaired individuals and those with cognitive impairment (enrollment in 2017-2022). All participants were from 2 memory clinics …


Imi-Management And Investigation Of High Myopia In Infants And Young Children, Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C W Klaver, Anthony T Moore, Ken K Nischal, Kyoko Ohno-Matsui, Evelyn A Paysse, Michael X Repka, Irina Y Smirnova, Martin Snead, Virginie J M Verhoeven, Pavan K Verkicharla May 2023

Imi-Management And Investigation Of High Myopia In Infants And Young Children, Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C W Klaver, Anthony T Moore, Ken K Nischal, Kyoko Ohno-Matsui, Evelyn A Paysse, Michael X Repka, Irina Y Smirnova, Martin Snead, Virginie J M Verhoeven, Pavan K Verkicharla

Faculty, Staff and Students Publications

Purpose: The purpose of this study was to evaluate the epidemiology, etiology, clinical assessment, investigation, management, and visual consequences of high myopia (≤-6 diopters [D]) in infants and young children.

Findings: High myopia is rare in pre-school children with a prevalence less than 1%. The etiology of myopia in such children is different than in older children, with a high rate of secondary myopia associated with prematurity or genetic causes. The priority following the diagnosis of high myopia in childhood is to determine whether there is an associated medical diagnosis that may be of greater overall importance to the health …


Defining The Genetic Landscape Of Idiopathic Pulmonary Fibrosis: Role Of Common And Rare Variants, Benjamin J Moss, Ivan O Rosas May 2023

Defining The Genetic Landscape Of Idiopathic Pulmonary Fibrosis: Role Of Common And Rare Variants, Benjamin J Moss, Ivan O Rosas

Faculty, Staff and Students Publications

No abstract provided.


Genetic Susceptibility To Chronic Obstructive Pulmonary Disease And Idiopathic Pulmonary Fibrosis: The Missing Link?, Francesca Polverino May 2023

Genetic Susceptibility To Chronic Obstructive Pulmonary Disease And Idiopathic Pulmonary Fibrosis: The Missing Link?, Francesca Polverino

Faculty, Staff and Students Publications

No abstract provided.


Transition To Surgery After Pessary Among Female Medicare Beneficiaries With Pelvic Organ Prolapse, Melanie R L Meister, Oyomoare L Osazuwa-Peters, Jerry L Lowder, Victoria L Handa May 2023

Transition To Surgery After Pessary Among Female Medicare Beneficiaries With Pelvic Organ Prolapse, Melanie R L Meister, Oyomoare L Osazuwa-Peters, Jerry L Lowder, Victoria L Handa

2020-Current year OA Pubs

BACKGROUND: The American College of Obstetricians and Gynecologists recommends offering a vaginal pessary to women seeking treatment of pelvic organ prolapse. However, single-institution series have suggested that a sizable proportion of women fitted with a pessary will transition to surgery within the first year.

OBJECTIVE: This study aimed to estimate the proportion of female US Medicare beneficiaries with pelvic organ prolapse who undergo surgery after pessary fitting, to describe the median time to surgery from pessary fitting, and to identify factors associated with the transition from pessary to surgery.

STUDY DESIGN: The Medicare 5% Limited Data Set was queried from …


The Impact Of The American Association For Thoracic Surgery On National Institutes Of Health Grant Funding For Cardiothoracic Surgeons, J Hunter Mehaffey, Hanjay Wang, Adishesh K Narahari, Simar S Bajaj, Anirudha S Chandrabhatla, Alexander S Krupnick, Frank W Sellke, Todd K Rosengart, Y Joseph Woo May 2023

The Impact Of The American Association For Thoracic Surgery On National Institutes Of Health Grant Funding For Cardiothoracic Surgeons, J Hunter Mehaffey, Hanjay Wang, Adishesh K Narahari, Simar S Bajaj, Anirudha S Chandrabhatla, Alexander S Krupnick, Frank W Sellke, Todd K Rosengart, Y Joseph Woo

Faculty, Staff and Students Publications

Objectives: The American Association for Thoracic Surgery, through its annual meeting, pilot grant funding, Scientific Affairs and Government Relations Committee activity, and academic development programs (Grant Writing Workshop, Clinical Trials Course, Innovation Summit), has aimed to develop the research careers of cardiothoracic surgeons. We hypothesized that American Association for Thoracic Surgery activities have helped increase National Institutes of Health grants awarded to cardiothoracic surgeons.

Methods: A database of 1869 academic cardiothoracic surgeons in the United States was created in December 2020. National Institutes of Health grant records from 1985 to 2020 were obtained for each surgeon using National Institutes of …


Direct Cardiac Reprogramming: A New Technology For Cardiac Repair, Paige E Brlecic, Clark A Bonham, Todd K Rosengart, Megumi Mathison May 2023

Direct Cardiac Reprogramming: A New Technology For Cardiac Repair, Paige E Brlecic, Clark A Bonham, Todd K Rosengart, Megumi Mathison

Faculty, Staff and Students Publications

Cardiovascular disease is one of the leading causes of morbidity and mortality worldwide, with myocardial infarctions being amongst the deadliest manifestations. Reduced blood flow to the heart can result in the death of cardiac tissue, leaving affected patients susceptible to further complications and recurrent disease. Further, contemporary management typically involves a pharmacopeia to manage the metabolic conditions contributing to atherosclerotic and hypertensive heart disease, rather than regeneration of the damaged myocardium. With modern healthcare extending lifespan, a larger demographic will be at risk for heart disease, driving the need for novel therapeutics that surpass those currently available in efficacy. Transdifferentiation …


Diagnostic Features Of Low- And High-Grade Mucinous Neoplasms In Pancreatic Cyst Fna Cytology, Carlie Sigel, Xiao-Jun Wei, Narasimhan Agaram, Keith Sigel, Roshan Raza, Rebecca Andrade, Rema Rao, Pari Shah, Kevin Soares, Abha Goyal May 2023

Diagnostic Features Of Low- And High-Grade Mucinous Neoplasms In Pancreatic Cyst Fna Cytology, Carlie Sigel, Xiao-Jun Wei, Narasimhan Agaram, Keith Sigel, Roshan Raza, Rebecca Andrade, Rema Rao, Pari Shah, Kevin Soares, Abha Goyal

Faculty, Staff and Students Publications

Background: Pancreatic cyst cytology evaluates for neoplastic mucin and epithelial grade. This study describes cytological features of low- and high-grade mucinous neoplasms (MNs) using gastrointestinal contaminants for comparison.

Methods: Histologically confirmed pancreatic cystic neoplasms were reviewed by a panel of cytopathologists to identify which, among 26 selected cytologic features, correlate significantly with low- and high-grade MN. A test for greater than or equal to four of eight high-grade features (three-dimensional architecture, high nuclear:cytoplasmic ratio, moderate nuclear membrane abnormalities, loss of nuclear polarity, hyperchromasia, >4:1 nuclear size variation in one cluster, karyorrhexis, and necrosis) was assessed for identifying a high-grade neoplasms. …


Prevalence And Risk Factors Of Nonalcoholic Fatty Liver Disease In A General Population, The Hunt Study, Erika R Bjørnå, Martine T Engelsen, Hashem B El-Serag, Eivind Ness-Jensen May 2023

Prevalence And Risk Factors Of Nonalcoholic Fatty Liver Disease In A General Population, The Hunt Study, Erika R Bjørnå, Martine T Engelsen, Hashem B El-Serag, Eivind Ness-Jensen

Faculty, Staff and Students Publications

Background: Nonalcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide and the metabolic syndrome is the main risk factor. Alanine aminotransferase (ALT) is widely used to screen for NAFLD, and the aims of this study were to assess the prevalence and risk factors of NAFLD in a general population.

Methods: The study was based on the third population-based Trøndelag Health Study (HUNT3), Norway, performed 2006-2008. In HUNT3, ALT and lipids were analyzed, anthropometric measures done, and comorbidity and risk factors reported. Elevated ALT was used to define NAFLD and participants with other diagnosed liver diseases and excessive …


Upright Positioning To Maintain Quantitative Measurement Of Higher Right Atrial Pressures, Zaven Sargsyan, Stephanie Sherman May 2023

Upright Positioning To Maintain Quantitative Measurement Of Higher Right Atrial Pressures, Zaven Sargsyan, Stephanie Sherman

Faculty, Staff and Students Publications

No abstract provided.


Comparable Survival For Hepatitis C-Related Hepatocellular Carcinoma After Liver Transplantation Irrespective Of Viremic Status, Peter Lymberopoulos, Anjiya Shaikh, Nicole E Rich, Jihane N Benhammou, Fasiha Kanwal, George Cholankeril May 2023

Comparable Survival For Hepatitis C-Related Hepatocellular Carcinoma After Liver Transplantation Irrespective Of Viremic Status, Peter Lymberopoulos, Anjiya Shaikh, Nicole E Rich, Jihane N Benhammou, Fasiha Kanwal, George Cholankeril

Faculty, Staff and Students Publications

Direct-acting antiviral (DAA) therapy for the treatment of chronic hepatitis C virus (HCV) infection is efficacious and well-tolerated in the post-liver transplant (LT) setting, prompting increased use of donors with HCV infection in patients waitlisted for LT.1,2 Although the incidence of nonviral hepatocellular carcinoma (HCC) is rising, HCV remains the most common risk factor for HCC among patients listed for LT in the United States.3 The use and outcomes of HCV-infected donors among patients with active HCV viremia waitlisted for (HCV-HCC) is lacking. Our aim was to evaluate post-LT survival among patients with HCV-HCC based on both recipient (active vs …