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Articles 14371 - 14400 of 26151
Full-Text Articles in Medicine and Health Sciences
Language Exposure During Infancy Is Negatively Associated With White Matter Microstructure In The Arcuate Fasciculus, Katiana A Estrada, Sharnya Govindaraj, Hervé Abdi, Luke E Moraglia, Jason J Wolff, Shoba Sreenath Meera, Stephen R Dager, Robert C Mckinstry, Martin A Styner, Lonnie Zwaigenbaum, Joseph Piven, Meghan R Swanson, Ibis Network
Language Exposure During Infancy Is Negatively Associated With White Matter Microstructure In The Arcuate Fasciculus, Katiana A Estrada, Sharnya Govindaraj, Hervé Abdi, Luke E Moraglia, Jason J Wolff, Shoba Sreenath Meera, Stephen R Dager, Robert C Mckinstry, Martin A Styner, Lonnie Zwaigenbaum, Joseph Piven, Meghan R Swanson, Ibis Network
2020-Current year OA Pubs
Decades of research have established that the home language environment, especially quality of caregiver speech, supports language acquisition during infancy. However, the neural mechanisms behind this phenomenon remain under studied. In the current study, we examined associations between the home language environment and structural coherence of white matter tracts in 52 typically developing infants from English speaking homes in a western society. Infants participated in at least one MRI brain scan when they were 3, 6, 12, and/or 24 months old. Home language recordings were collected when infants were 9 and/or 15 months old. General linear regression models indicated that …
Evaluating Motion Of Pancreatic Tumors And Anatomical Surrogates Using Cine Mri In 0.35t Mrgrt Under Free Breathing Conditions, Benjamin Lewis, Anamaria Guta, Jaeik Shin, Zhen Ji, Jin Sung Kim, Taeho Kim
Evaluating Motion Of Pancreatic Tumors And Anatomical Surrogates Using Cine Mri In 0.35t Mrgrt Under Free Breathing Conditions, Benjamin Lewis, Anamaria Guta, Jaeik Shin, Zhen Ji, Jin Sung Kim, Taeho Kim
2020-Current year OA Pubs
Treatment tolerability is a significant limitation to pancreatic cancer treatment with radiotherapy due to proximity to highly radiosensitive organs and respiratory motion necessitating expanded target margins. Further, pancreatic tumors are difficult to visualize on conventional radiotherapy systems. Surrogates are often used to locate the tumor but are often inconsistent and do not provide strong positional relations throughout the respiratory cycle. This work utilizes a retrospective dataset of 45 pancreatic cancer patients treated on an MR-Linac system with cine MRI acquired for real-time target tracking. We investigated intra-fraction motion of tumors and two abdominal surrogates, leading to prediction models between the …
"Brain Age" Predicts Disability Accumulation In Multiple Sclerosis, Matthew R Brier, Zhuocheng Li, Maria Ly, Helmet T Karim, Leda Liang, Weixin Du, John E Mccarthy, Anne H Cross, Tammie L S Benzinger, Robert T Naismith, Salim Chahin
"Brain Age" Predicts Disability Accumulation In Multiple Sclerosis, Matthew R Brier, Zhuocheng Li, Maria Ly, Helmet T Karim, Leda Liang, Weixin Du, John E Mccarthy, Anne H Cross, Tammie L S Benzinger, Robert T Naismith, Salim Chahin
2020-Current year OA Pubs
OBJECTIVE: Neurodegenerative conditions often manifest radiologically with the appearance of premature aging. Multiple sclerosis (MS) biomarkers related to lesion burden are well developed, but measures of neurodegeneration are less well-developed. The appearance of premature aging quantified by machine learning applied to structural MRI assesses neurodegenerative pathology. We assess the explanatory and predictive power of "brain age" analysis on disability in MS using a large, real-world dataset.
METHODS: Brain age analysis is predicated on the over-estimation of predicted brain age in patients with more advanced pathology. We compared the performance of three brain age algorithms in a large, longitudinal dataset ( …
Protein Kinetics Of Superoxide Dismutase-1 In Familial And Sporadic Amyotrophic Lateral Sclerosis, Cindy V Ly, Margaret D Ireland, Wade K Self, James Bollinger, Jennifer Jockel-Balsarotti, Hillary Herzog, Peggy Allred, Leah Miller, Michael Doyle, Isabel Anez-Bruzual, Bhavesh Trikamji, Ted Hyman, Tyler Kung, Katherine Nicholson, Robert C Bucelli, Bruce W Patterson, Randall J Bateman, Timothy M Miller
Protein Kinetics Of Superoxide Dismutase-1 In Familial And Sporadic Amyotrophic Lateral Sclerosis, Cindy V Ly, Margaret D Ireland, Wade K Self, James Bollinger, Jennifer Jockel-Balsarotti, Hillary Herzog, Peggy Allred, Leah Miller, Michael Doyle, Isabel Anez-Bruzual, Bhavesh Trikamji, Ted Hyman, Tyler Kung, Katherine Nicholson, Robert C Bucelli, Bruce W Patterson, Randall J Bateman, Timothy M Miller
2020-Current year OA Pubs
OBJECTIVE: Accumulation of misfolded superoxide dismutase-1 (SOD1) is a pathological hallmark of SOD1-related amyotrophic lateral sclerosis (ALS) and is observed in sporadic ALS where its role in pathogenesis is controversial. Understanding in vivo protein kinetics may clarify how SOD1 influences neurodegeneration and inform optimal dosing for therapies that lower SOD1 transcripts.
METHODS: We employed stable isotope labeling paired with mass spectrometry to evaluate in vivo protein kinetics and concentration of soluble SOD1 in cerebrospinal fluid (CSF) of SOD1 mutation carriers, sporadic ALS participants and controls. A deaminated SOD1 peptide, SDGPVKV, that correlates with protein stability was also measured.
RESULTS: In …
The Mitophagy Receptor Bnip3 Is Critical For The Regulation Of Metabolic Homeostasis And Mitochondrial Function In The Nucleus Pulposus Cells Of The Intervertebral Disc, Vedavathi Madhu, Miriam Hernandez-Meadows, Paige K Boneski, Yunping Qiu, Anyonya R Guntur, Irwin J Kurland, Ruteja A Barve, Makarand V Risbud
The Mitophagy Receptor Bnip3 Is Critical For The Regulation Of Metabolic Homeostasis And Mitochondrial Function In The Nucleus Pulposus Cells Of The Intervertebral Disc, Vedavathi Madhu, Miriam Hernandez-Meadows, Paige K Boneski, Yunping Qiu, Anyonya R Guntur, Irwin J Kurland, Ruteja A Barve, Makarand V Risbud
2020-Current year OA Pubs
The contribution of mitochondria to the metabolic function of hypoxic NP cells has been overlooked. We have shown that NP cells contain networked mitochondria and that mitochondrial translocation of BNIP3 mediates hypoxia-induced mitophagy. However, whether BNIP3 also plays a role in governing mitochondrial function and metabolism in hypoxic NP cells is not known. BNIP3 knockdown altered mitochondrial morphology, and number, and increased mitophagy. Interestingly, BNIP3 deficiency in NP cells reduced glycolytic capacity reflected by lower production of lactate/H
Diabetes-Related Quality Of Life Assessment In Children Following Total Pancreatectomy With Islet Autotransplantation., Jacob M. Redel, Lindsey Hornung, Deborah Elder, Jaimie D. Nathan, Sarah Corathers, Kristin L. Rich, Maisam Abu-El-Haija
Diabetes-Related Quality Of Life Assessment In Children Following Total Pancreatectomy With Islet Autotransplantation., Jacob M. Redel, Lindsey Hornung, Deborah Elder, Jaimie D. Nathan, Sarah Corathers, Kristin L. Rich, Maisam Abu-El-Haija
Manuscripts, Articles, Book Chapters and Other Papers
Total pancreatectomy with islet autotransplantation (TPIAT) can improve pain and reduce functional impairment associated with acute recurrent or chronic pancreatitis. However, long-term glucose monitoring and insulin therapy are often required, which can adversely affect the quality of life. We sought to evaluate diabetes-related quality of life (DR-QOL) in youth who underwent TPIAT and compare it to the youth with new-onset type 1 diabetes (T1D). The Pediatric Quality of Life Inventory™ 3.2 Diabetes Module (PedsQL™ DM) was used to assess DR-QOL in 46 youth (< 20 years old) who underwent TPIAT. The PedsQL™ DM scores were analyzed for statistically significant changes and minimally important clinical differences (MCID) over time post-TPIAT. Scores at 12 months (n = 52) and 24 months (n = 58) after diagnosis of T1D. The diabetes …
Reduced Heart Failure-Related Healthcare Costs With Furoscix Versus In-Hospital Intravenous Diuresis In Heart Failure Patients: The Freedom-Hf Study, Daniel Bensimhon, William S. Weintraub, William Frank Peacock, Tamas Alexy, Dalton Mclean, Donald C. Haas, Kathleen L. Deering, Stefanie J. Millar, Matthew M. Goodwin, John F. Mohr
Reduced Heart Failure-Related Healthcare Costs With Furoscix Versus In-Hospital Intravenous Diuresis In Heart Failure Patients: The Freedom-Hf Study, Daniel Bensimhon, William S. Weintraub, William Frank Peacock, Tamas Alexy, Dalton Mclean, Donald C. Haas, Kathleen L. Deering, Stefanie J. Millar, Matthew M. Goodwin, John F. Mohr
Abington Jefferson Health Papers
Aim: Compare heart failure (HF) costs of Furoscix use at home compared with inpatient intravenous (IV) diuresis.
Patients & methods: Prospective, case control study of chronic HF patients presenting to emergency department (ED) with worsening congestion discharged to receive Furoscix 80 mg/10 ml 5-h subcutaneous infusion for ≤7 days. 30-day HF-related costs in Furoscix group derived from commercial claims database compared with matched historical patients hospitalized for <72 h.
Results: Of 24 Furoscix patients, 1 (4.2%) was hospitalized in 30-day period. 66 control patients identified and were well-matched for age, sex, ejection fraction (EF), renal function and other comorbidities. Furoscix patients had …
72>Comparison Of Female Ovarian Reserve Before Vs After Covid-19 Vaccination, Liubin Yang, Samantha Neal, Tiffany Lee, Andrew Chou, Amy K Schutt, William Gibbons
Comparison Of Female Ovarian Reserve Before Vs After Covid-19 Vaccination, Liubin Yang, Samantha Neal, Tiffany Lee, Andrew Chou, Amy K Schutt, William Gibbons
Children’s Nutrition Research Center Staff Publications
This cohort study examines the association of COVID-19 vaccination with levels of anti-Mullerian hormone and antral follicle count in women seeking fertility treatment.
Refugee Women’S Receptiveness For Virtual Engagement On Reproductive Health During The Covid-19 Pandemic, Heike Thiel De Bocanegra, Zahra Goliaei, Nossin Khan, Sereen Banna, Rawnaq Behnam, Sheila K Mody
Refugee Women’S Receptiveness For Virtual Engagement On Reproductive Health During The Covid-19 Pandemic, Heike Thiel De Bocanegra, Zahra Goliaei, Nossin Khan, Sereen Banna, Rawnaq Behnam, Sheila K Mody
Faculty Publications & Research of the TUC Public Health Program
BACKGROUND: Refugee women who leave their country due to persecution and violence have multiple barriers to sexual and reproductive health (SRH) services. The COVID-19 pandemic added an additional barrier to in-person reproductive health education, dialogue, and clinical care. This study aimed to assess the potential of using virtual group meetings as a forum for refugee women to learn about and discuss reproductive health concerns such as cervical cancer screening, family planning, childbirth, and postpartum care.
METHOD: We conducted semi-structured interviews with 36 refugee women and stakeholders to assess factors that impact refugee women's receptiveness for virtual platforms to obtain information …
Bovine Lactoferrin For The Prevention Of Covid-19 Infection In Health Care Personnel: A Double-Blinded Randomized Clinical Trial (Lf-Covid), Rafaella Navarro, Jose Luis Paredes, Lourdes Tucto, Carlos Medina, Eddie Angles-Yanqui, Juan Carlos Nario, Jorge Ruiz-Cabrejos, Juan Luis Quintana, Kevin Turpo-Espinoza, Fernando Mejia-Cordero, Meylin Aphang-Lam, Jorge Florez, Gabriel Carrasco-Escobar, Theresa Jean Ochoa
Bovine Lactoferrin For The Prevention Of Covid-19 Infection In Health Care Personnel: A Double-Blinded Randomized Clinical Trial (Lf-Covid), Rafaella Navarro, Jose Luis Paredes, Lourdes Tucto, Carlos Medina, Eddie Angles-Yanqui, Juan Carlos Nario, Jorge Ruiz-Cabrejos, Juan Luis Quintana, Kevin Turpo-Espinoza, Fernando Mejia-Cordero, Meylin Aphang-Lam, Jorge Florez, Gabriel Carrasco-Escobar, Theresa Jean Ochoa
Faculty, Staff and Student Publications
Lactoferrin (LF) has in vitro antiviral activity against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This study aimed to determine the effect of bovine lactoferrin (bLF) in the prevention of SARS-CoV-2 infection in health care personnel. A randomized, double-blinded, placebo-controlled clinical trial was conducted in two tertiary hospitals that provide care to patients with SARS-CoV-2 infection in Lima, Peru. Daily supplementation with 600 mg of enteral bLF versus placebo for 90 days was compared. Participants were weekly screened for symptoms suggestive of SARS-CoV-2 infection and molecular testing was performed on suspected episodes. A serological test was obtained from all participants …
The Effects Of Gender And Country Of Origin On Acculturation, Psychological Factors, Lifestyle Factors, And Diabetes-Related Physiological Outcomes Among Mexican Americans: The Starr County Diabetes Prevention Initiative, Sharon A Brown, Heather A Becker, Alexandra A García, Mary M Velasquez, Hirofumi Tanaka, Mary A Winter, William B Perkison, Eric L Brown, David Aguilar, Craig L Hanis
The Effects Of Gender And Country Of Origin On Acculturation, Psychological Factors, Lifestyle Factors, And Diabetes-Related Physiological Outcomes Among Mexican Americans: The Starr County Diabetes Prevention Initiative, Sharon A Brown, Heather A Becker, Alexandra A García, Mary M Velasquez, Hirofumi Tanaka, Mary A Winter, William B Perkison, Eric L Brown, David Aguilar, Craig L Hanis
Faculty, Staff and Student Publications
OBJECTIVES: Examine acculturation and psychological, lifestyle, and physiological factors based on gender and country of origin (U.S. vs. Mexico).
METHODS: Baseline data from the Starr County diabetes prevention study (
RESULTS: Participants were: predominantly female (73%); 51 years of age, on average; born in Mexico (71%); and Spanish-speaking. Individuals spent 11 of their waking hours (range = 0-18 h) in sedentary activities. Compared to females, more males spoke English and reported fewer hours in sedentary activities. Compared to participants born in Mexico, those born in the U.S. were more likely to: speak English; report depressive symptoms; and exhibit elevated BMI …
Stool-Based Tests Mitigate Impacts Of Covid-19 On Colorectal Cancer Screening, Po-Hong Liu, Amit G Singal, Caitlin C Murphy
Stool-Based Tests Mitigate Impacts Of Covid-19 On Colorectal Cancer Screening, Po-Hong Liu, Amit G Singal, Caitlin C Murphy
Faculty, Staff and Student Publications
No abstract provided.
Survival Of Middle Eastern And North African Individuals Diagnosed With Colorectal Cancer: A Population-Based Study In California, Timothy A Zaki, Argyrios Ziogas, Jenny Chang, Caitlin C Murphy, Hoda Anton-Culver
Survival Of Middle Eastern And North African Individuals Diagnosed With Colorectal Cancer: A Population-Based Study In California, Timothy A Zaki, Argyrios Ziogas, Jenny Chang, Caitlin C Murphy, Hoda Anton-Culver
Faculty, Staff and Student Publications
BACKGROUND: Literature on colorectal cancer outcomes in individuals of Middle Eastern and North African (MENA) descent is limited. To address this gap, we estimated five-year colorectal cancer-specific survival by race and ethnicity, including MENA individuals, in a diverse, population-based sample in California.
METHODS: We identified adults (ages 18-79 years) diagnosed with a first or only colorectal cancer in 2004 to 2017 using the California Cancer Registry (CCR), including non-Hispanic White, non-Hispanic Black, non-Hispanic Asian, Hispanic, and MENA individuals. For each racial/ethnic group, we calculated five-year colorectal cancer-specific survival and used Cox proportional hazards regression models to examine the association of …
Aligning Germline Cancer Predisposition With Tumor-Based Next-Generation Sequencing For Modern Oncology Diagnosis, Interception, And Therapeutic Development, Timothy A Yap, Zsofia K Stadler, Leigh Anne Stout, Bryan P Schneider
Aligning Germline Cancer Predisposition With Tumor-Based Next-Generation Sequencing For Modern Oncology Diagnosis, Interception, And Therapeutic Development, Timothy A Yap, Zsofia K Stadler, Leigh Anne Stout, Bryan P Schneider
Faculty, Staff and Student Publications
In the era of precision medicine, genomic interrogation for identification of both germline and somatic genetic alterations has become increasingly important. While such germline testing was usually undertaken via a phenotype-driven single-gene approach, with the advent of next-generation sequencing (NGS) technologies, the widespread utilization of multigene panels, often agnostic of cancer phenotype, has become a commonplace in many different cancer types. At the same time, somatic tumor testing in oncology performed for the purpose of guiding therapeutic decisions for targeted therapies has also rapidly expanded, recently starting to incorporate not just patients with recurrent or metastatic cancer but even patients …
Cross-Sectional Association Between Neighborhood Socioeconomic Status And Sleep Duration Among Black And White Men And Women: The Southern Community Cohort Study, Samuel H Nyarko, Liying Luo, David G Schlundt, Qian Xiao
Cross-Sectional Association Between Neighborhood Socioeconomic Status And Sleep Duration Among Black And White Men And Women: The Southern Community Cohort Study, Samuel H Nyarko, Liying Luo, David G Schlundt, Qian Xiao
Faculty, Staff and Student Publications
Objective: To examine the association of neighborhood socioeconomic status (SES) with sleep duration among a large cohort of Black and white men and women in the United States.
Methods: We used data from the Southern Community Cohort Study (SCCS, N = 75,248). Neighborhood SES was based on census data and sleep duration was measured by self-report. Multinomial logistic regression analysis was performed to assess the association between neighborhood SES and short (<7 hours) and long (≥9 hours) sleep in the overall sample and according to race-sex subgroups.
Results: In the total sample, when compared with the highest quintile of neighborhood SES, the lowest quintile was associated with higher odds of both short (adjusted ORQ5 vs. …
7>Palliative Medicine Integration In The Usa: Cancer Centre Executives’ Attitudes, Joseph Chen, Allison De La Rosa, Dejian Lai, Rony Dev, Frances Lee Revere, David Lairson, Paige Wermuth, Eduardo Bruera, David Hui
Palliative Medicine Integration In The Usa: Cancer Centre Executives’ Attitudes, Joseph Chen, Allison De La Rosa, Dejian Lai, Rony Dev, Frances Lee Revere, David Lairson, Paige Wermuth, Eduardo Bruera, David Hui
Faculty, Staff and Student Publications
OBJECTIVES: To compare cancer centre (CC) executives' attitudes towards palliative care between National Cancer Institute-designated CCs (NCI-CCs) and non-NCI-designated CCs (non-NCI-CCs) in 2018 and to examine the changes in attitudes and beliefs between 2009 and 2018.
METHODS: CC chief executives at all NCI-CCs and a random sample of non-NCI-CCs were surveyed from April to August 2018. Twelve questions examined the executives' attitudes towards palliative care integration, perceived barriers and self-assessments. The primary outcome was agreement on the statement 'a stronger integration of palliative care services into oncology practice will benefit patients at my institution.' Survey findings from 2018 were compared …
Considerations In Selecting Venues For The American Thoracic Society International Conference: Balancing Competing Priorities Of The Society's Diverse Membership, Gregory P. Downey, M. Patricia Rivera, Lynn M. Schnapp, Irina Petrache, Jesse Roman, Karen J. Collishaw
Considerations In Selecting Venues For The American Thoracic Society International Conference: Balancing Competing Priorities Of The Society's Diverse Membership, Gregory P. Downey, M. Patricia Rivera, Lynn M. Schnapp, Irina Petrache, Jesse Roman, Karen J. Collishaw
Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers
No abstract provided.
An Ecological Momentary Assessment Study To Examine Covariates And Effects Of Concurrent And Simultaneous Use Of Electronic Cigarettes And Marijuana Among College Students, Anne Buu, James J Yang, Tzung-Shiang Ou, Joon Kyung Nam, Ganghui Suh, Hsien-Chang Lin
An Ecological Momentary Assessment Study To Examine Covariates And Effects Of Concurrent And Simultaneous Use Of Electronic Cigarettes And Marijuana Among College Students, Anne Buu, James J Yang, Tzung-Shiang Ou, Joon Kyung Nam, Ganghui Suh, Hsien-Chang Lin
Faculty, Staff and Student Publications
INTRODUCTION: The prevalence of concurrent and simultaneous use of e-cigarette and marijuana among college students is high. Yet, the literature was mainly based on cross-sectional surveys with emphasis on the smoking route. This is the first ecological momentary assessment (EMA) study that examined the vaping route of nicotine-marijuana co-use and the associated short-term psychological effects.
METHODS: This study recruited 686 college student e-cigarette users to participate in an on-line survey and 7-day EMA. Frequent marijuana users (247) - using marijuana weekly or daily - were compared with infrequent/non-users (439) on academic performance, e-cigarette use patterns, and dependence and respiratory symptoms. …
Persons Living With Dementia And Multiple Chronic Conditions Identifying Health Priorities With Care Partners, Thi Vu, Emily L Mroz, Kizzy Hernandez-Bigos, Denise Chow, Rafael Samper Ternent, Kalisha Bonds Johnson, Mary E Tinetti, Joan Monin
Persons Living With Dementia And Multiple Chronic Conditions Identifying Health Priorities With Care Partners, Thi Vu, Emily L Mroz, Kizzy Hernandez-Bigos, Denise Chow, Rafael Samper Ternent, Kalisha Bonds Johnson, Mary E Tinetti, Joan Monin
Faculty, Staff and Student Publications
No abstract provided.
The Impact Of The Covid-19 Lockdown On Retinopathy Of Prematurity Screening And Management In The United States: A Multicenter Study, Shefali Sood, Mina M Naguib, David S Portney, Cagri G Besirli, Cole A Martin, C Armitage Harper, Maria P Fernandez, Audina M Berrocal, Polly A Quiram, Peter Belin, Noreen Clarke, Aaron Nagiel, Melissa Chandler, Christopher Bair, M Elizabeth Harnett, Vaidehi S Dedania
The Impact Of The Covid-19 Lockdown On Retinopathy Of Prematurity Screening And Management In The United States: A Multicenter Study, Shefali Sood, Mina M Naguib, David S Portney, Cagri G Besirli, Cole A Martin, C Armitage Harper, Maria P Fernandez, Audina M Berrocal, Polly A Quiram, Peter Belin, Noreen Clarke, Aaron Nagiel, Melissa Chandler, Christopher Bair, M Elizabeth Harnett, Vaidehi S Dedania
Faculty, Staff and Student Publications
Purpose: To study the effect of the pandemic-related lockdown (physical distance measures and movement restrictions) on the characteristics and management of retinopathy of prematurity (ROP).
Methods: In this controlled, multicenter cohort study, the medical records of patients born prematurely and screened for ROP in the neonatal intensive care unit during four time periods were reviewed retrospectively: (1) November 1, 2018, to March 15, 2019; (2) March 16, 2019, to August 2, 2019 (lockdown control period); (3) November 1, 2019, to March 15, 2020; and (4) March 16, 2020-August 2, 2020.
Results: A total of 1,645 patients met inclusion criteria. Among …
The Evidence Base For Surgical Treatment Of Infants With Necrotizing Enterocolitis Or Spontaneous Intestinal Perforation: Impact Of Trial Design And Questions Regarding Implementation Of Trial Recommendations, Parker T Evans, Martin L Blakely, Amanda S Mixon, Jennifer Canvasser, Matthew A Rysavy, Maria E Fernandez, Claudia Pedroza, Jon E Tyson
The Evidence Base For Surgical Treatment Of Infants With Necrotizing Enterocolitis Or Spontaneous Intestinal Perforation: Impact Of Trial Design And Questions Regarding Implementation Of Trial Recommendations, Parker T Evans, Martin L Blakely, Amanda S Mixon, Jennifer Canvasser, Matthew A Rysavy, Maria E Fernandez, Claudia Pedroza, Jon E Tyson
Faculty, Staff and Student Publications
No abstract provided.
Genome-Wide Association Study And Functional Characterization Identifies Candidate Genes For Insulin-Stimulated Glucose Uptake, Alice Williamson, Dougall M Norris, Xianyong Yin, K Alaine Broadaway, Anne H Moxley, Swarooparani Vadlamudi, Emma P Wilson, Anne U Jackson, Vasudha Ahuja, Mette K Andersen, Zorayr Arzumanyan, Lori L Bonnycastle, Stefan R Bornstein, Maxi P Bretschneider, Thomas A Buchanan, Yi-Cheng Chang, Lee-Ming Chuang, Ren-Hua Chung, Tine D Clausen, Peter Damm, Graciela E Delgado, Vanessa D De Mello, Josée Dupuis, Om P Dwivedi, Michael R Erdos, Lilian Fernandes Silva, Timothy M Frayling, Christian Gieger, Mark O Goodarzi, Xiuqing Guo, Stefan Gustafsson, Liisa Hakaste, Ulf Hammar, Gad Hatem, Sandra Herrmann, Kurt Højlund, Katrin Horn, Willa A Hsueh, Yi-Jen Hung, Chii-Min Hwu, Anna Jonsson, Line L Kårhus, Marcus E Kleber, Peter Kovacs, Timo A Lakka, Marie Lauzon, I-Te Lee, Cecilia M Lindgren, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Jian'an Luan, Dina Mansour Aly, Elisabeth Mathiesen, Angela P Moissl, Andrew P Morris, Narisu Narisu, Nikolaos Perakakis, Annette Peters, Rashmi B Prasad, Roman N Rodionov, Kathryn Roll, Carsten F Rundsten, Chloé Sarnowski, Kai Savonen, Markus Scholz, Sapna Sharma, Sara E Stinson, Sufyan Suleman, Jingyi Tan, Kent D Taylor, Matti Uusitupa, Dorte Vistisen, Daniel R Witte, Romy Walther, Peitao Wu, Anny H Xiang, Björn Zethelius, Emma Ahlqvist, Richard N Bergman, Yii-Der Ida Chen, Francis S Collins, Tove Fall, Jose C Florez, Andreas Fritsche, Harald Grallert, Leif Groop, Torben Hansen, Heikki A Koistinen, Pirjo Komulainen, Markku Laakso, Lars Lind, Markus Loeffler, Winfried März, James B Meigs, Leslie J Raffel, Rainer Rauramaa, Jerome I Rotter, Peter E H Schwarz, Michael Stumvoll, Johan Sundström, Anke Tönjes, Tiinamaija Tuomi, Jaakko Tuomilehto, Robert Wagner, Inês Barroso, Mark Walker, Niels Grarup, Michael Boehnke, Nicholas J Wareham, Karen L Mohlke, Eleanor Wheeler, Stephen O'Rahilly, Daniel J Fazakerley, Claudia Langenberg
Genome-Wide Association Study And Functional Characterization Identifies Candidate Genes For Insulin-Stimulated Glucose Uptake, Alice Williamson, Dougall M Norris, Xianyong Yin, K Alaine Broadaway, Anne H Moxley, Swarooparani Vadlamudi, Emma P Wilson, Anne U Jackson, Vasudha Ahuja, Mette K Andersen, Zorayr Arzumanyan, Lori L Bonnycastle, Stefan R Bornstein, Maxi P Bretschneider, Thomas A Buchanan, Yi-Cheng Chang, Lee-Ming Chuang, Ren-Hua Chung, Tine D Clausen, Peter Damm, Graciela E Delgado, Vanessa D De Mello, Josée Dupuis, Om P Dwivedi, Michael R Erdos, Lilian Fernandes Silva, Timothy M Frayling, Christian Gieger, Mark O Goodarzi, Xiuqing Guo, Stefan Gustafsson, Liisa Hakaste, Ulf Hammar, Gad Hatem, Sandra Herrmann, Kurt Højlund, Katrin Horn, Willa A Hsueh, Yi-Jen Hung, Chii-Min Hwu, Anna Jonsson, Line L Kårhus, Marcus E Kleber, Peter Kovacs, Timo A Lakka, Marie Lauzon, I-Te Lee, Cecilia M Lindgren, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Jian'an Luan, Dina Mansour Aly, Elisabeth Mathiesen, Angela P Moissl, Andrew P Morris, Narisu Narisu, Nikolaos Perakakis, Annette Peters, Rashmi B Prasad, Roman N Rodionov, Kathryn Roll, Carsten F Rundsten, Chloé Sarnowski, Kai Savonen, Markus Scholz, Sapna Sharma, Sara E Stinson, Sufyan Suleman, Jingyi Tan, Kent D Taylor, Matti Uusitupa, Dorte Vistisen, Daniel R Witte, Romy Walther, Peitao Wu, Anny H Xiang, Björn Zethelius, Emma Ahlqvist, Richard N Bergman, Yii-Der Ida Chen, Francis S Collins, Tove Fall, Jose C Florez, Andreas Fritsche, Harald Grallert, Leif Groop, Torben Hansen, Heikki A Koistinen, Pirjo Komulainen, Markku Laakso, Lars Lind, Markus Loeffler, Winfried März, James B Meigs, Leslie J Raffel, Rainer Rauramaa, Jerome I Rotter, Peter E H Schwarz, Michael Stumvoll, Johan Sundström, Anke Tönjes, Tiinamaija Tuomi, Jaakko Tuomilehto, Robert Wagner, Inês Barroso, Mark Walker, Niels Grarup, Michael Boehnke, Nicholas J Wareham, Karen L Mohlke, Eleanor Wheeler, Stephen O'Rahilly, Daniel J Fazakerley, Claudia Langenberg
Faculty, Staff and Student Publications
Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P < 5 × 10-8) not previously associated with postchallenge insulin resistance, eight of which were shown to share their genetic architecture with type 2 diabetes in colocalization analyses. We investigated candidate genes at a subset of associated loci in cultured cells and identified nine candidate genes newly implicated in the expression or trafficking of GLUT4, the key glucose transporter in postprandial glucose uptake in muscle and fat. By focusing on postprandial insulin resistance, we highlighted the mechanisms of action at type 2 diabetes loci that are not adequately captured by studies of fasting glycemic traits.
Overcoming The Challenges To Clinical Development Of X-Linked Retinitis Pigmentosa Therapies: Proceedings Of An Expert Panel, David G Birch, Janet K Cheetham, Stephen P Daiger, Carel Hoyng, Christine Kay, Ian M Macdonald, Mark E Pennesi, Lori S Sullivan
Overcoming The Challenges To Clinical Development Of X-Linked Retinitis Pigmentosa Therapies: Proceedings Of An Expert Panel, David G Birch, Janet K Cheetham, Stephen P Daiger, Carel Hoyng, Christine Kay, Ian M Macdonald, Mark E Pennesi, Lori S Sullivan
Faculty, Staff and Student Publications
X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease manifesting as impaired night vision and peripheral vision loss that progresses to legal blindness. Although several trials of ocular gene therapy for XLRP have been conducted or are in progress, there is currently no approved treatment. In July 2022, the Foundation Fighting Blindness convened an expert panel to examine relevant research and make recommendations for overcoming the challenges and capitalizing on the opportunities in conducting clinical trials of RPGR-targeted therapy for XLRP. Data presented concerned RPGR structure and mutation types known to cause XLRP, RPGR mutation-associated retinal phenotype diversity, patterns …
Tumour Infiltrating Lymphocytes (Tils) And Immune Composition In Breast Cancer Patients From Kenya: Spatial Distributions And Associations With Risk Factors And Tumour Characteristics, Shahin Sayed, Hela Koka, Mustapha Abubakar, Kevin Gardner, Roberto Salgado, Zahir Moloo, Ambar Beatriz Caban-Ureña, Daniel Rosen, Patricia Castro, Mansoor Saleh, Asim Jamal Shaikh, Jasmit Shah, Jonine Figueroa, Francis Makokha, Hien Khanh Ha, Zhong Wang, Pumza Magangane, Richard Naidoo, Veronica Ngundo, Xiaohong Rose Yang, Dhirendra Govender
Tumour Infiltrating Lymphocytes (Tils) And Immune Composition In Breast Cancer Patients From Kenya: Spatial Distributions And Associations With Risk Factors And Tumour Characteristics, Shahin Sayed, Hela Koka, Mustapha Abubakar, Kevin Gardner, Roberto Salgado, Zahir Moloo, Ambar Beatriz Caban-Ureña, Daniel Rosen, Patricia Castro, Mansoor Saleh, Asim Jamal Shaikh, Jasmit Shah, Jonine Figueroa, Francis Makokha, Hien Khanh Ha, Zhong Wang, Pumza Magangane, Richard Naidoo, Veronica Ngundo, Xiaohong Rose Yang, Dhirendra Govender
Faculty, Staff and Students Publications
Background: The immune landscape of breast cancer (BC) in patients from Sub Saharan Africa is understudied. Our aims were to describe the distribution of Tumour Infiltrating Lymphocytes (TILs) within the intratumoural stroma (sTILs) and the leading/invasive edge stroma (LE-TILs), and to evaluate TILs across BC subtypes with established risk factors and clinical characteristics in Kenyan women.
Methods: Visual quantification of sTILs and LE-TILs were performed on Haematoxylin and eosin -stained pathologically confirmed BC cases based on the International TIL working group guidelines. Tissue Microarrays were constructed and stained with immunohistochemistry (IHC) for CD3, CD4, CD8, CD68, CD20, and FOXP3. Linear …
Differentially Expressed Tear Proteins In Sjögren's Syndrome Keratoconjunctivitis Sicca, Stephen P Yoon, Zhiyuan Yu, Stephen C Pflugfelder, Cintia S De Paiva
Differentially Expressed Tear Proteins In Sjögren's Syndrome Keratoconjunctivitis Sicca, Stephen P Yoon, Zhiyuan Yu, Stephen C Pflugfelder, Cintia S De Paiva
Faculty, Staff and Students Publications
Purpose: The purpose of this study was to determine if there are significant differences in the concentrations of tear proteins in Sjögren's syndrome keratoconjunctivitis sicca (SS KCS) compared to healthy controls.
Methods: Tear samples were collected with unmarked Schirmer strips from 15 patients with SS KCS and 21 healthy controls. Tear protein was eluted and the concentration measured. Inflammatory mediators were assayed with a Raybiotech L-507 glass slide array and normalized by strip wetting length. All patients underwent an ocular surface exam to evaluate tear break-up time (TBUT), corneal fluorescein (CF) staining, and conjunctival (CJ) staining. The symptom assessment questionnaire …
Cost-Effective Microscopic Draping: Covid-19 Umbrella, Yusif Hajiyev, Ronald J Vilela
Cost-Effective Microscopic Draping: Covid-19 Umbrella, Yusif Hajiyev, Ronald J Vilela
Faculty, Staff and Students Publications
We describe a cost-effective solution to limit aerosol transmission to the surgeon and other personnel in the operating room during otologic surgery.
A Novel Through-The-Scope Helix Tack-And-Suture Device For Mucosal Defect Closure Following Colorectal Endoscopic Submucosal Dissection: A Multicenter Study, Jad Farha, Hemchand Ramberan, Hiroyuki Aihara, Linda Y Zhang, Amit Mehta, Camille Hage, Alexander Schlachterman, Anand Kumar, Brianna Shinn, Andrew Canakis, Raymond E Kim, Lionel S DʼSouza, Jonathan M Buscaglia, Andrew C Storm, Jason Samarasena, Kenneth Chang, Shai Friedland, Peter V Draganov, Bashar J Qumseya, Salmaan Jawaid, Mohamed O Othman, Muhammad K Hasan, Dennis Yang, Mouen A Khashab, Saowanee Ngamruengphong, Esd-Closure Working Group
A Novel Through-The-Scope Helix Tack-And-Suture Device For Mucosal Defect Closure Following Colorectal Endoscopic Submucosal Dissection: A Multicenter Study, Jad Farha, Hemchand Ramberan, Hiroyuki Aihara, Linda Y Zhang, Amit Mehta, Camille Hage, Alexander Schlachterman, Anand Kumar, Brianna Shinn, Andrew Canakis, Raymond E Kim, Lionel S DʼSouza, Jonathan M Buscaglia, Andrew C Storm, Jason Samarasena, Kenneth Chang, Shai Friedland, Peter V Draganov, Bashar J Qumseya, Salmaan Jawaid, Mohamed O Othman, Muhammad K Hasan, Dennis Yang, Mouen A Khashab, Saowanee Ngamruengphong, Esd-Closure Working Group
Faculty, Staff and Students Publications
Background: Complete closure of large mucosal defects following colorectal endoscopic submucosal dissection (ESD) with through-the-scope (TTS) clips is oftentimes not possible. We aimed to report our early experience of using a novel TTS suturing system for the closure of large mucosal defects after colorectal ESD.
Methods: We performed a retrospective multicenter cohort study of consecutive patients who underwent attempted prophylactic defect closure using the TTS suturing system after colorectal ESD. The primary outcome was technical success in achieving complete defect closure, defined as a < 5 mm residual mucosal defect in the closure line using TTS suturing, with or without adjuvant TTS clips.
Results: 82 patients with a median defect size of 30 (interquartile range 25-40) mm were included. …
Commentary: Myocardial Relaxation Matters, Paige E Brlecic, Todd K Rosengart
Commentary: Myocardial Relaxation Matters, Paige E Brlecic, Todd K Rosengart
Faculty, Staff and Students Publications
No abstract provided.
Genotypic And Phenotypic Spectrum Of Infantile Liver Failure Due To Pathogenic Trmu Variants, Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert Mcfarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Genotypic And Phenotypic Spectrum Of Infantile Liver Failure Due To Pathogenic Trmu Variants, Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert Mcfarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Faculty, Staff and Students Publications
Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment.
Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data.
Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of …
Prognostic Value Of Severe Acute Respiratory Syndrome Coronavirus-2 Viral Load And Antibodies In Patients Hospitalized With Covid-19, Rebecca N Bauer, Anastasia Teterina, Haridha Shivram, Jacqueline Mcbride, Carrie M Rosenberger, Fang Cai, Min Bao, Larry Tsai, Oliver Gordon, Ivan T Lee, Jeffrey J Wallin, Danielle Porter, Kavita Juneja, Gregory Camus, Ivan O Rosas, Steffen Wildum
Prognostic Value Of Severe Acute Respiratory Syndrome Coronavirus-2 Viral Load And Antibodies In Patients Hospitalized With Covid-19, Rebecca N Bauer, Anastasia Teterina, Haridha Shivram, Jacqueline Mcbride, Carrie M Rosenberger, Fang Cai, Min Bao, Larry Tsai, Oliver Gordon, Ivan T Lee, Jeffrey J Wallin, Danielle Porter, Kavita Juneja, Gregory Camus, Ivan O Rosas, Steffen Wildum
Faculty, Staff and Students Publications
Observational studies have identified the potential prognostic value for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) viral load and anti-SARS-CoV-2 antibodies in coronavirus disease 2019 (COVID-19). However, viral load in nasopharyngeal (NP) swabs produced inconsistent results in prognostic analyses, and the prognostic value of viral load or antibodies has not been confirmed in large clinical trials. COVACTA and REMDACTA were double-blind, randomized, controlled trials with a combined enrollment of 1078 patients hospitalized with COVID-19 treated with tocilizumab or placebo in COVACTA or tocilizumab plus remdesivir or placebo plus remdesivir in REMDACTA. We assessed the potential prognostic value of NP and serum …