Open Access. Powered by Scholars. Published by Universities.®

Digital Commons Network™

Open Access. Powered by Scholars. Published by Universities.®

Humans

Discipline
Institution
Publication Year
Publication
Publication Type

Articles 6721 - 6750 of 8882

Full-Text Articles in Entire DC Network

Β-Cell Impairment And Clinically Meaningful Alterations In Glycemia In Obese Youth Across The Glucose Tolerance Spectrum, Joon Young Kim, Hala Tfayli, Fida Bacha, Sojung Lee, Nour Gebara, Silva Arslanian Nov 2020

Β-Cell Impairment And Clinically Meaningful Alterations In Glycemia In Obese Youth Across The Glucose Tolerance Spectrum, Joon Young Kim, Hala Tfayli, Fida Bacha, Sojung Lee, Nour Gebara, Silva Arslanian

Children’s Nutrition Research Center Staff Publications

Background/aims: In obese youth, it is not clear what degree of β-cell impairment translates to glucose dysregulation commensurate with shifts from normal glucose tolerance (NGT) to impaired glucose tolerance (IGT) to type 2 diabetes. We aimed to investigate the quantitative relationship between β-cell (clamp-measured disposition index [DI]) and OGTT glucose area under the curve (G-AUC) in obese youth across the spectrum of glucose tolerance.

Methods: Data from 152 youth (58 African-American [AA] and 94 American-White [AW]; 73 NGT, 48 IGT, and 31 type 2 diabetes) who completed a 3-h hyperinsulinemic (80 mu/m2/min)-euglycemic clamp, and a 2-h hyperglycemic (225 mg/dL) clamp …


Identification Of Novel Candidate Risk Genes For Myelomeningocele Within The Glucose Homeostasis/Oxidative Stress And Folate/One-Carbon Metabolism Networks, Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley-Koch, Alanna C Morrison, Hope Northrup, Kit Sing Au Nov 2020

Identification Of Novel Candidate Risk Genes For Myelomeningocele Within The Glucose Homeostasis/Oxidative Stress And Folate/One-Carbon Metabolism Networks, Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley-Koch, Alanna C Morrison, Hope Northrup, Kit Sing Au

Faculty, Staff and Student Publications

BACKGROUND: Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next-generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms.

METHODS: Exome sequencing (ES) was performed in 511 patients, born with myelomeningocele, divided between European American and Mexican American ethnicities. Healthy control data from the Genome Aggregation database were ethnically matched and …


Geff: Graph Embedding For Functional Fingerprinting, Kausar Abbas, Enrico Amico, Diana Otero Svaldi, Uttara Tipnis, Duy Anh Duong-Tran, Mintao Liu, Meenusree Rajapandian, Jaroslaw Harezlak, Beau M Ances, Joaquín Goñi Nov 2020

Geff: Graph Embedding For Functional Fingerprinting, Kausar Abbas, Enrico Amico, Diana Otero Svaldi, Uttara Tipnis, Duy Anh Duong-Tran, Mintao Liu, Meenusree Rajapandian, Jaroslaw Harezlak, Beau M Ances, Joaquín Goñi

2020-Current year OA Pubs

It has been well established that Functional Connectomes (FCs), as estimated from functional MRI (fMRI) data, have an individual fingerprint that can be used to identify an individual from a population (subject-identification). Although identification rate is high when using resting-state FCs, other tasks show moderate to low values. Furthermore, identification rate is task-dependent, and is low when distinct cognitive states, as captured by different fMRI tasks, are compared. Here we propose an embedding framework, GEFF (Graph Embedding for Functional Fingerprinting), based on group-level decomposition of FCs into eigenvectors. GEFF creates an eigenspace representation of a group of subjects using one …


Genetics Of Smoking Behaviors In American Indians, Jeffrey A Henderson, Dedra S Buchwald, Barbara V Howard, Patricia Nez Henderson, Yafang Li, Rachel F Tyndale, Christopher I Amos, Olga Y Gorlova, Collaborative To Improve Native Cancer Outcomes (Cinco), A P50 Center For Population Health And Health Disparities Program Project Sponsored By The National Cancer Institute Nov 2020

Genetics Of Smoking Behaviors In American Indians, Jeffrey A Henderson, Dedra S Buchwald, Barbara V Howard, Patricia Nez Henderson, Yafang Li, Rachel F Tyndale, Christopher I Amos, Olga Y Gorlova, Collaborative To Improve Native Cancer Outcomes (Cinco), A P50 Center For Population Health And Health Disparities Program Project Sponsored By The National Cancer Institute

Faculty, Staff and Students Publications

BACKGROUND: The smoking behavior of American Indians (AI) differs from that of non-Hispanic whites (NHW). Typically light smokers, cessation interventions in AIs are generally less effective. To develop more effective cessation programs for AIs, clinicians, researchers, and public health workers need a better understanding of the genetic factors involved in their smoking behavior. Our aim was to assess whether SNPs associated with smoking behavior in NHWs are also associated with smoking in AIs.

METHODS: We collected questionnaire data on smoking behaviors and analyzed blood and saliva samples from two Tribal populations with dramatically different cultures and smoking prevalence, one in …


Chronic Ulcers And Malnutrition In An African Patient\, Timothy G Singer, Monica A Bray, Audrey Chan, Saki Ikeda, Brittany Walters, Maren Y Fuller, Carla Falco Nov 2020

Chronic Ulcers And Malnutrition In An African Patient\, Timothy G Singer, Monica A Bray, Audrey Chan, Saki Ikeda, Brittany Walters, Maren Y Fuller, Carla Falco

Faculty, Staff and Students Publications

An 11-year-old female with a congenitally malformed left hand, sickle-cell trait, asthma, and history of appendicitis was transferred from Zambia for evaluation and treatment of widespread suppurative and ulcerative skin lesions that typically appeared following trauma to her skin. The ulcers first presented 3 years earlier but had markedly worsened in the 9 months prior to transfer, spreading circumferentially on her extremities and abdomen at the site of an appendectomy. They were painful and did not resolve with multiple courses of intravenous (IV) antibiotics and close management by a Pediatric Infectious Disease specialist working for a non-governmental organization (NGO) in …


Comparing Intervention Strategies For Reducing Clostridioides Difficile Transmission In Acute Healthcare Settings: An Agent-Based Modeling Study, Brittany Stephenson, Cristina Lanzas, Suzanne Lenhart, Eduardo Ponce, Jason Bintz, Erik R Dubberke, Judy Day Oct 2020

Comparing Intervention Strategies For Reducing Clostridioides Difficile Transmission In Acute Healthcare Settings: An Agent-Based Modeling Study, Brittany Stephenson, Cristina Lanzas, Suzanne Lenhart, Eduardo Ponce, Jason Bintz, Erik R Dubberke, Judy Day

2020-Current year OA Pubs

BACKGROUND: Clostridioides difficile infection (CDI) is one of the most common healthcare infections. Common strategies aiming at controlling CDI include antibiotic stewardship, environmental decontamination, and improved hand hygiene and contact precautions. Mathematical models provide a framework to evaluate control strategies. Our objective is to evaluate the effectiveness of control strategies in decreasing C. difficile colonization and infection using an agent-based model in an acute healthcare setting.

METHODS: We developed an agent-based model that simulates the transmission of C. difficile in medical wards. This model explicitly incorporates healthcare workers (HCWs) as vectors of transmission, tracks individual patient antibiotic histories, incorporates varying …


Expert Opinion On Verification Of Antimicrobial Susceptibility Tests, Jean B. Patel, Richard B. Thomson, Kevin Alby, Esther Babady, Karissa Culbreath, Marcelo F. Galas, Shawn R. Lockhart, Brian V. Lubbers, Margie Morgan, Sandra S. Richter, Susan Sharp, Ribhi M. Shawar, Ana Maria Cardenas, German Esparza, Nicole Hubbard, Mark G. Papich, Audrey N. Schuetz Oct 2020

Expert Opinion On Verification Of Antimicrobial Susceptibility Tests, Jean B. Patel, Richard B. Thomson, Kevin Alby, Esther Babady, Karissa Culbreath, Marcelo F. Galas, Shawn R. Lockhart, Brian V. Lubbers, Margie Morgan, Sandra S. Richter, Susan Sharp, Ribhi M. Shawar, Ana Maria Cardenas, German Esparza, Nicole Hubbard, Mark G. Papich, Audrey N. Schuetz

Pathology Research and Scholarship

On behalf of the Clinical and Laboratory Standards Institute (CLSI), the Expert Panel on Microbiology would like to respond to the recent commentary by Kirby and colleagues voicing concerns related to the verification of commercial antimicrobial susceptibility testing (AST) for new drugs that are introduced into the clinical laboratory (1). The CLSI Expert Panel on Microbiology oversees the direction and general guidance of the CLSI microbiology subcommittees, including the Subcommittee on Antimicrobial Susceptibility Testing, the Subcommittee on Antifungal Susceptibility Testing, and the Subcommittee on Veterinary Antimicrobial Susceptibility Testing. The authors of the recent commentary propose that verification studies are not …


Association Of Visceral Adipose Tissue And Subclinical Atherosclerosis In Us-Born Mexican Americans But Not First Generation Immigrants, Clarence Gill, Miryoung Lee, Kristina P Vatcheva, Nahid Rianon, Beverly Smulevitz, David D Mcpherson, Joseph B Mccormick, Susan P Fisher-Hoch, Susan T Laing Oct 2020

Association Of Visceral Adipose Tissue And Subclinical Atherosclerosis In Us-Born Mexican Americans But Not First Generation Immigrants, Clarence Gill, Miryoung Lee, Kristina P Vatcheva, Nahid Rianon, Beverly Smulevitz, David D Mcpherson, Joseph B Mccormick, Susan P Fisher-Hoch, Susan T Laing

Faculty, Staff and Student Publications

Background Excess visceral adipose tissue (VAT) is a primary driver for the cardiometabolic complications of obesity; VAT-associated cardiovascular disease risk varies by race, but most studies have been done on Non-Hispanics. This study aimed to evaluate the clinical and metabolic correlates of VAT, its association with subclinical atherosclerosis, and the factors affecting this association in Mexican Americans. Methods and Results Participants (n=527) were drawn from the Cameron County Hispanic Cohort (CCHC), on whom a carotid ultrasound to assess carotid intima media thickness and a dual-energy X-ray absorptiometry scan to assess for VAT were obtained. Those in the highest quartiles of …


Accuracy Of The Tuberculosis Point-Of-Care Alere Determine Lipoarabinomannan Antigen Diagnostic Test Using Α-Mannosidase Treated And Untreated Urine In A Cohort Of People Living With Hiv In Guatemala, Juan Ignacio García, Carlos Mejía-Chew, Et Al. Oct 2020

Accuracy Of The Tuberculosis Point-Of-Care Alere Determine Lipoarabinomannan Antigen Diagnostic Test Using Α-Mannosidase Treated And Untreated Urine In A Cohort Of People Living With Hiv In Guatemala, Juan Ignacio García, Carlos Mejía-Chew, Et Al.

2020-Current year OA Pubs

BACKGROUND: Improved point-of-care diagnostic tests for tuberculosis (TB) in severe immune suppressed people living with HIV (PLWH) are needed to decrease morbidity and mortality outcomes. The aim of the study is to evaluate the performance of the lipoarabinomannan antigen test (LAM-test) with and without α-mannosidase pre-treated urine in a cohort of PLWH in primary care clinics in Guatemala. We further determined TB incidence, and mortality rates and its risk factors in PLWH with TB symptoms.

METHODS: Prospective longitudinal study of PLWH with TB symptoms. Urine samples were collected at 2 HIV sites to test the sensitivity of the LAM-test in …


Promoting Reading Achievement In Children With Developmental Language Disorders: What Can We Learn From Research On Specific Language Impairment And Dyslexia?, Suzanne M. Adlof Oct 2020

Promoting Reading Achievement In Children With Developmental Language Disorders: What Can We Learn From Research On Specific Language Impairment And Dyslexia?, Suzanne M. Adlof

Faculty Publications

Purpose Specific language impairment (SLI; see also developmental language disorder) and dyslexia are separate, yet frequently co-occurring disorders that confer risks to reading comprehension and academic achievement. Until recently, most studies of one disorder had little consideration of the other, and each disorder was addressed by different practitioners. However, understanding how the two disorders relate to each other is important for advancing theories about each disorder and improving reading comprehension and academic achievement. The purpose of this clinical focus article is to integrate research on SLI and dyslexia as well as advocate for the consideration of comorbidities in future research …


Health And Disease Markers Correlate With Gut Microbiome Composition Across Thousands Of People., Ohad Manor, Chengzhen L Dai, Sergey A Kornilov, Brett Smith, Nathan D Price, Jennifer C Lovejoy, Sean M Gibbons, Andrew T Magis Oct 2020

Health And Disease Markers Correlate With Gut Microbiome Composition Across Thousands Of People., Ohad Manor, Chengzhen L Dai, Sergey A Kornilov, Brett Smith, Nathan D Price, Jennifer C Lovejoy, Sean M Gibbons, Andrew T Magis

Articles, Abstracts, and Reports

Variation in the human gut microbiome can reflect host lifestyle and behaviors and influence disease biomarker levels in the blood. Understanding the relationships between gut microbes and host phenotypes are critical for understanding wellness and disease. Here, we examine associations between the gut microbiota and ~150 host phenotypic features across ~3,400 individuals. We identify major axes of taxonomic variance in the gut and a putative diversity maximum along the Firmicutes-to-Bacteroidetes axis. Our analyses reveal both known and unknown associations between microbiome composition and host clinical markers and lifestyle factors, including host-microbe associations that are composition-specific. These results suggest potential opportunities …


Comparison Of Virus Concentration Methods For The Rt-Qpcr-Based Recovery Of Murine Hepatitis Virus, A Surrogate For Sars-Cov-2 From Untreated Wastewater, Warish Ahmed, Paul M. Bertsch, Aaron Bivins, Kyle Bibby, Kata Farkas, Amy Gathercole, Eiji Haramoto, Pradip Gyawali, Asja Korajkic, Brian R. Mcminn, Jochen F. Mueller, Stuart L. Simpson, Wendy J M Smith, Erin M. Symonds, Kevin V. Thomas, Rory Verhagen, Masaaki Kitajima Oct 2020

Comparison Of Virus Concentration Methods For The Rt-Qpcr-Based Recovery Of Murine Hepatitis Virus, A Surrogate For Sars-Cov-2 From Untreated Wastewater, Warish Ahmed, Paul M. Bertsch, Aaron Bivins, Kyle Bibby, Kata Farkas, Amy Gathercole, Eiji Haramoto, Pradip Gyawali, Asja Korajkic, Brian R. Mcminn, Jochen F. Mueller, Stuart L. Simpson, Wendy J M Smith, Erin M. Symonds, Kevin V. Thomas, Rory Verhagen, Masaaki Kitajima

All publications

There is currently a clear benefit for many countries to utilize wastewater-based epidemiology (WBE) as part of ongoing measures to manage the coronavirus disease 2019 (COVID-19) global pandemic. Since most wastewater virus concentration methods were developed and validated for nonenveloped viruses, it is imperative to determine the efficiency of the most commonly used methods for the enveloped severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Municipal wastewater seeded with a human coronavirus (CoV) surrogate, murine hepatitis virus (MHV), was used to test the efficiency of seven wastewater virus concentration methods: (A–C) adsorption-extraction with three different pre-treatment options, (D–E) centrifugal filter device …


Implementation Planning For Community-Based Point-Of-Care Hiv Testing For Infants: Recommendations From Community Leaders In Kenya., Lynton W. Macharia, Catherine Wexler, Melinda Brown, May Maloba, Ruby Angeline Pricilla, Natabhona M. Mabachi, Elizabeth Muchoki, Shadrack Babu, Martin Ochieng, Brad Gautney, Kathy Goggin, Sarah Finocchario-Kessler Oct 2020

Implementation Planning For Community-Based Point-Of-Care Hiv Testing For Infants: Recommendations From Community Leaders In Kenya., Lynton W. Macharia, Catherine Wexler, Melinda Brown, May Maloba, Ruby Angeline Pricilla, Natabhona M. Mabachi, Elizabeth Muchoki, Shadrack Babu, Martin Ochieng, Brad Gautney, Kathy Goggin, Sarah Finocchario-Kessler

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Early infant diagnosis (EID) establishes the presence of HIV infection in HIV-exposed infants and children younger than 18 months of age. EID services are hospital-based, and thus fail to capture HIV-exposed infants who are not brought to the hospital for care. Point-of-care (POC) diagnostic systems deployed in the community could increase the proportion tested and linked to treatment, but little feasibility and acceptability data is available.

METHODS: Semi-structured interviews (n = 74) were conducted by a Kenyan team with community members (Community Health Workers/Volunteers [CHW/CHV], Traditional Birth Attendants [TBAs], community leaders) and parents of HIV-exposed infants at four study …


Technical Note: Comparison Of The Internal Target Volume (Itv) Contours And Dose Calculations On 4dct, Average Cbct, And 4dcbct Imaging For Lung Stereotactic Body Radiation Therapy (Sbrt), Michael Dumas, Eric Laugeman, Parag Sevak, Karen C. Snyder, Weihua Mao, Indrin J. Chetty, Munther Ajlouni, Ning Wen Oct 2020

Technical Note: Comparison Of The Internal Target Volume (Itv) Contours And Dose Calculations On 4dct, Average Cbct, And 4dcbct Imaging For Lung Stereotactic Body Radiation Therapy (Sbrt), Michael Dumas, Eric Laugeman, Parag Sevak, Karen C. Snyder, Weihua Mao, Indrin J. Chetty, Munther Ajlouni, Ning Wen

Radiation Oncology Articles

PURPOSE: To investigate the differences between internal target volumes (ITVs) contoured on the simulation 4DCT and daily 4DCBCT images for lung cancer patients treated with stereotactic body radiotherapy (SBRT) and determine the dose delivered on 4D planning technique.

METHODS: For nine patients, 4DCBCTs were acquired before each fraction to assess tumor motion. An ITV was contoured on each phase of the 4DCBCT and a union of the 10 ITVs was used to create a composite ITV. Another ITV was drawn on the average 3DCBCT (avgCBCT) to compare with current clinical practice. The Dice coefficient, Hausdorff distance, and center of mass …


Factor Structure Of The Opening Minds Stigma Scale For Health Care Providers And Psychometric Properties Of Its Hungarian Version, Dorottya Őri, Sándor Rózsa, Péter Szocsics, Lajos Simon, György Purebl, Zsuzsa Győrffy Oct 2020

Factor Structure Of The Opening Minds Stigma Scale For Health Care Providers And Psychometric Properties Of Its Hungarian Version, Dorottya Őri, Sándor Rózsa, Péter Szocsics, Lajos Simon, György Purebl, Zsuzsa Győrffy

2020-Current year OA Pubs

BACKGROUND: The Opening Minds Stigma Scale for Health Care Providers (OMS-HC) is a widely used questionnaire to measure the stigmatising attitudes of healthcare providers towards patients with mental health problems. The psychometric properties of the scale; however, have never been investigated in Hungary. We aimed to thoroughly explore the factor structure of the OMS-HC and examine the key psychometric properties of the Hungarian version.

METHODS: The OMS-HC is a self-report questionnaire that measures the overall stigmatising attitude by a total score, and three subscales can be calculated: Attitude, Disclosure and Help-seeking, and Social Distance. Our study population included specialists and …


Evidence For Craniofacial Enhancer Variation Underlying Nonsyndromic Cleft Lip And Palate, Vershanna E Morris, S Shahrukh Hashmi, Lisha Zhu, Lorena Maili, Christian Urbina, Steven Blackwell, Matthew R Greives, Edward P Buchanan, John B Mulliken, Susan H Blanton, W Jim Zheng, Jacqueline T Hecht, Ariadne Letra Oct 2020

Evidence For Craniofacial Enhancer Variation Underlying Nonsyndromic Cleft Lip And Palate, Vershanna E Morris, S Shahrukh Hashmi, Lisha Zhu, Lorena Maili, Christian Urbina, Steven Blackwell, Matthew R Greives, Edward P Buchanan, John B Mulliken, Susan H Blanton, W Jim Zheng, Jacqueline T Hecht, Ariadne Letra

Faculty, Staff and Student Publications

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for which only ~ 20% of the underlying genetic variation has been identified. Variants in noncoding regions have been increasingly suggested to contribute to the missing heritability. In this study, we investigated whether variation in craniofacial enhancers contributes to NSCLP. Candidate enhancers were identified using VISTA Enhancer Browser and previous publications. Prioritization was based on patterning defects in knockout mice, deletion/duplication of craniofacial genes in animal models and results of whole exome/whole genome sequencing studies. This resulted in 20 craniofacial enhancers to be investigated. Custom amplicon-based …


Identifying And Validating Subtypes Within Major Psychiatric Disorders Based On Frontal-Posterior Functional Imbalance Via Deep Learning, Miao Chang, Fay Y Womer, Xiaohong Gong, Weixiong Zhang, Et Al Oct 2020

Identifying And Validating Subtypes Within Major Psychiatric Disorders Based On Frontal-Posterior Functional Imbalance Via Deep Learning, Miao Chang, Fay Y Womer, Xiaohong Gong, Weixiong Zhang, Et Al

Open Access Publications

Converging evidence increasingly implicates shared etiologic and pathophysiological characteristics among major psychiatric disorders (MPDs), such as schizophrenia (SZ), bipolar disorder (BD), and major depressive disorder (MDD). Examining the neurobiology of the psychotic-affective spectrum may greatly advance biological determination of psychiatric diagnosis, which is critical for the development of more effective treatments. In this study, ensemble clustering was developed to identify subtypes within a trans-diagnostic sample of MPDs. Whole brain amplitude of low-frequency fluctuations (ALFF) was used to extract the low-dimensional features for clustering in a total of 944 participants: 581 psychiatric patients (193 with SZ, 171 with BD, and 217 …


Acute Hyperkalemia In The Emergency Department: A Summary From A Kidney Disease: Improving Global Outcomes Conference, Gregor Lindner, Emmanuel A Burdmann, Catherine M Clase, Brenda R Hemmelgarn, Charles A Herzog, Jolanta Małyszko, Masahiko Nagahama, Roberto Pecoits-Filho, Zubaid Rafique, Patrick Rossignol, Adam J Singer Oct 2020

Acute Hyperkalemia In The Emergency Department: A Summary From A Kidney Disease: Improving Global Outcomes Conference, Gregor Lindner, Emmanuel A Burdmann, Catherine M Clase, Brenda R Hemmelgarn, Charles A Herzog, Jolanta Małyszko, Masahiko Nagahama, Roberto Pecoits-Filho, Zubaid Rafique, Patrick Rossignol, Adam J Singer

Faculty, Staff and Students Publications

Hyperkalemia is a common electrolyte disorder observed in the emergency department. It is often associated with underlying predisposing conditions, such as moderate or severe kidney disease, heart failure, diabetes mellitus, or significant tissue trauma. Additionally, medications, such as inhibitors of the renin-angiotensin-aldosterone system, potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs, succinylcholine, and digitalis, are associated with hyperkalemia. To this end, Kidney Disease: Improving Global Outcomes (KDIGO) convened a conference in 2018 to identify evidence and address controversies on potassium management in kidney disease. This review summarizes the deliberations and clinical guidance for the evaluation and management of acute hyperkalemia in this setting. …


The Central Melanocortin System And Human Obesity, Yongjie Yang, Yong Xu Oct 2020

The Central Melanocortin System And Human Obesity, Yongjie Yang, Yong Xu

Children’s Nutrition Research Center Staff Publications

The prevalence of obesity and the associated comorbidities highlight the importance of understanding the regulation of energy homeostasis. The central melanocortin system plays a critical role in controlling body weight balance. Melanocortin neurons sense and integrate the neuronal and hormonal signals, and then send regulatory projections, releasing anorexigenic or orexigenic melanocortin neuropeptides, to downstream neurons to regulate the food intake and energy expenditure. This review summarizes the latest progress in our understanding of the role of the melanocortin pathway in energy homeostasis. We also review the advances in the identification of human genetic variants that cause obesity via mechanisms that …


Unexpected Brain Imaging Findings In Patients With Seizures, Boulenouar Mesraoua, Matthias Koepp, Bernhard Schuknecht, Dirk Deleu, Hassan J Al Hail, Gayane Melikyan, Lubna Elsheikh, A A Asadi-Pooya Oct 2020

Unexpected Brain Imaging Findings In Patients With Seizures, Boulenouar Mesraoua, Matthias Koepp, Bernhard Schuknecht, Dirk Deleu, Hassan J Al Hail, Gayane Melikyan, Lubna Elsheikh, A A Asadi-Pooya

Department of Neurology Faculty Papers

New imaging technologies have advanced our ability to localize the epileptogenic zone in patients with epilepsy. As a result of the constant improvement of the image quality, magnetic resonance imaging (MRI) has become the most important ancillary tool in the management of patients with epilepsy. Magnetic resonance imaging for the evaluation of patients with epilepsy should be done using a special temporal lobe protocol and read by physicians experienced with the findings in patients with epilepsy. On the other hand, in the healthy populations, incidental structural brain abnormalities have been reported in 18% of people. Incidental, subtle, or unexpected structural …


An Autism-Linked Missense Mutation In Shank3 Reveals The Modularity Of Shank3 Function, Li Wang, Kaifang Pang, Kihoon Han, Carolyn J Adamski, Wei Wang, Lingjie He, Jason K Lai, Vitaliy V Bondar, Joseph G Duman, Ronald Richman, Kimberley F Tolias, Patrick Barth, Timothy Palzkill, Zhandong Liu, J Lloyd Holder, Huda Y Zoghbi Oct 2020

An Autism-Linked Missense Mutation In Shank3 Reveals The Modularity Of Shank3 Function, Li Wang, Kaifang Pang, Kihoon Han, Carolyn J Adamski, Wei Wang, Lingjie He, Jason K Lai, Vitaliy V Bondar, Joseph G Duman, Ronald Richman, Kimberley F Tolias, Patrick Barth, Timothy Palzkill, Zhandong Liu, J Lloyd Holder, Huda Y Zoghbi

Faculty, Staff and Students Publications

Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead, have often been undervalued. However, some missense variants can be informative for developing a more profound understanding of disease pathogenesis and ultimately targeted therapies. Here we present an example of this by studying a missense variant in a well-known autism spectrum disorder (ASD) causing gene SHANK3. We analyzed Shank3's in vivo phosphorylation profile and identified S685 as one phosphorylation site where one ASD-linked variant has …


Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi Oct 2020

Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi

Faculty, Staff and Student Publications

OBJECTIVE: Predictive disease modeling using electronic health record data is a growing field. Although clinical data in their raw form can be used directly for predictive modeling, it is a common practice to map data to standard terminologies to facilitate data aggregation and reuse. There is, however, a lack of systematic investigation of how different representations could affect the performance of predictive models, especially in the context of machine learning and deep learning.

MATERIALS AND METHODS: We projected the input diagnoses data in the Cerner HealthFacts database to Unified Medical Language System (UMLS) and 5 other terminologies, including CCS, CCSR, …


Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi Oct 2020

Representation Of Ehr Data For Predictive Modeling: A Comparison Between Umls And Other Terminologies, Laila Rasmy, Firat Tiryaki, Yujia Zhou, Yang Xiang, Cui Tao, Hua Xu, Degui Zhi

Faculty, Staff and Student Publications

OBJECTIVE: Predictive disease modeling using electronic health record data is a growing field. Although clinical data in their raw form can be used directly for predictive modeling, it is a common practice to map data to standard terminologies to facilitate data aggregation and reuse. There is, however, a lack of systematic investigation of how different representations could affect the performance of predictive models, especially in the context of machine learning and deep learning.

MATERIALS AND METHODS: We projected the input diagnoses data in the Cerner HealthFacts database to Unified Medical Language System (UMLS) and 5 other terminologies, including CCS, CCSR, …


Clonal Hematopoiesis: Mechanisms Driving Dominance Of Stem Cell Clones, Grant A Challen, Margaret A Goodell Oct 2020

Clonal Hematopoiesis: Mechanisms Driving Dominance Of Stem Cell Clones, Grant A Challen, Margaret A Goodell

2020-Current year OA Pubs

The discovery of clonal hematopoiesis (CH) in older individuals has changed the way hematologists and stem cell biologists view aging. Somatic mutations accumulate in stem cells over time. While most mutations have no impact, some result in subtle functional differences that ultimately manifest in distinct stem cell behaviors. With a large pool of stem cells and many decades to compete, some of these differences confer advantages under specific contexts. Approximately 20 genes are recurrently found as mutated in CH, indicating they confer some advantage. The impact of these mutations has begun to be analyzed at a molecular level by modeling …


Giant Gastric Ulcers: An Unusual Culprit, Aamer Abbass, Sameen Khalid, Vaishnavi Boppana, Joshua Hanson, Henry Lin, Denis Mccarthy Oct 2020

Giant Gastric Ulcers: An Unusual Culprit, Aamer Abbass, Sameen Khalid, Vaishnavi Boppana, Joshua Hanson, Henry Lin, Denis Mccarthy

Pathology Research and Scholarship

Mycophenolate Mofetil (MMF) is routinely used immunosuppressant in solid organ transplantation is commonly associated with several gastrointestinal (GI) side effects. Here we present a case of giant gastric ulcer of 5 cm from MMF use post cardiac transplant. CASE DESCRIPTION: A 56-year-old male with history of severe ischemic cardiomyopathy post heart transplant was on immunosuppression with MMF, tacrolimus and prednisone for 5 months. He presented with severe epigastric pain and intermittent episodes of melena for 1 month. His pain radiated to back that is worsened with eating. Associated with loss of appetite, vomiting and 16-pound weight loss in 3 months. …


Digital Whole Slide Imaging Compared With Light Microscopy For Primary Diagnosis In Surgical Pathology, Alexander D. Borowsky, Eric F. Glassy, William Dean Wallace, Nathash S. Kallichanda, Cynthia A. Behling, Dylan V. Miller, Hemlata N. Oswal, Richard M. Feddersen, Omid R M. Bakhtar, Arturo E. Mendoza, Daniel P. Molden, Helene L. Saffer, Christopher R. Wixom, James E. Albro, Melissa H. Cessna, Brian J. Hall, Isaac E. Lloyd, John W. Bishop, Morgan A. Darrow, Dorina Gui, Kuang-Yu Jen, Julie Ann S. Walby, Stephen M. Bauer, Daniel A. Cortez, Pranav Gandhi, Melissa M. Rodgers, Rafael A. Rodriguez, David R. Martin, Thomas G. Mcconnell, Samuel J. Reynolds, James H. Spigel, Shelly A. Stepenaskie, Elena Viktorova, Robert Magari, Keith A. Wharton, Jinsong Qiu, Thomas W. Bauer Oct 2020

Digital Whole Slide Imaging Compared With Light Microscopy For Primary Diagnosis In Surgical Pathology, Alexander D. Borowsky, Eric F. Glassy, William Dean Wallace, Nathash S. Kallichanda, Cynthia A. Behling, Dylan V. Miller, Hemlata N. Oswal, Richard M. Feddersen, Omid R M. Bakhtar, Arturo E. Mendoza, Daniel P. Molden, Helene L. Saffer, Christopher R. Wixom, James E. Albro, Melissa H. Cessna, Brian J. Hall, Isaac E. Lloyd, John W. Bishop, Morgan A. Darrow, Dorina Gui, Kuang-Yu Jen, Julie Ann S. Walby, Stephen M. Bauer, Daniel A. Cortez, Pranav Gandhi, Melissa M. Rodgers, Rafael A. Rodriguez, David R. Martin, Thomas G. Mcconnell, Samuel J. Reynolds, James H. Spigel, Shelly A. Stepenaskie, Elena Viktorova, Robert Magari, Keith A. Wharton, Jinsong Qiu, Thomas W. Bauer

Pathology Research and Scholarship

CONTEXT.—: The adoption of digital capture of pathology slides as whole slide images (WSI) for educational and research applications has proven utility.

OBJECTIVE.—: To compare pathologists' primary diagnoses derived from WSI versus the standard microscope. Because WSIs differ in format and method of observation compared with the current standard glass slide microscopy, this study is critical to potential clinical adoption of digital pathology.

DESIGN.—: The study enrolled a total of 2045 cases enriched for more difficult diagnostic categories and represented as 5849 slides were curated and provided for diagnosis by a team of 19 reading pathologists separately as WSI or …


Association Of C-Reactive Protein And Metabolic Risk With Cognitive Effects Of Lurasidone In Patients With Schizophrenia, Brian J. Miller, Andrei Pikalov, Cynthia O. Siu, Michael Tocco, Joyce Tsai, Philip D. Harvey, John W. Newcomer, Antony Loebel Oct 2020

Association Of C-Reactive Protein And Metabolic Risk With Cognitive Effects Of Lurasidone In Patients With Schizophrenia, Brian J. Miller, Andrei Pikalov, Cynthia O. Siu, Michael Tocco, Joyce Tsai, Philip D. Harvey, John W. Newcomer, Antony Loebel

2020-Current year OA Pubs

BACKGROUND: Accumulating evidence has implicated insulin resistance and inflammation in the pathophysiology of cognitive impairments associated with neuropsychiatric disorders. This post-hoc analysis based on a placebo-controlled trial investigated the effect of inflammation (indexed by CRP) and metabolic risk factors on cognitive performance in patients with schizophrenia treated with lurasidone.

METHODS: Acutely exacerbated patients with schizophrenia were randomized to lurasidone (80 or 160 mg/day), quetiapine XR 600 mg/day, or placebo. A wide range CRP test and a cognitive assessment using the CogState computerized battery were performed at baseline and week 6 study endpoint. Associations between log-transformed CRP, high density lipoprotein (HDL), …


Safety And Immunogenicity Of Fc-Eda, A Recombinant Ectodysplasin A1 Replacement Protein, In Human Subjects, Iris Körber, Ophir D Klein, Patrick Morhart, Florian Faschingbauer, Dorothy K Grange, Angus Clarke, Christine Bodemer, Silvia Maitz, Kenneth Huttner, Neil Kirby, Caroline Durand, Holm Schneider Oct 2020

Safety And Immunogenicity Of Fc-Eda, A Recombinant Ectodysplasin A1 Replacement Protein, In Human Subjects, Iris Körber, Ophir D Klein, Patrick Morhart, Florian Faschingbauer, Dorothy K Grange, Angus Clarke, Christine Bodemer, Silvia Maitz, Kenneth Huttner, Neil Kirby, Caroline Durand, Holm Schneider

2020-Current year OA Pubs

In X-linked hypohidrotic ectodermal dysplasia, the most frequent ectodermal dysplasia, an inherited deficiency of the signalling protein ectodysplasin A1 (EDA1) impairs the development of the skin and its appendages, various eccrine glands, and dentition. The severe hypohidrosis common to X-linked hypohidrotic ectodermal dysplasia patients may lead to life-threatening hyperthermia, especially during hot weather or febrile illness. Fc-EDA, an EDA1 replacement protein known to prevent the disease in newborn animals, was tested in 2 clinical trials (human adults and neonates) and additionally administered under compassionate use to 3 infants in utero. The data support the safety of Fc-EDA and efficacy if …


Low-Shot Deep Learning Of Diabetic Retinopathy With Potential Applications To Address Artificial Intelligence Bias In Retinal Diagnostics And Rare Ophthalmic Diseases, Philippe Burlina, William Paul, Philip Mathew, Neil Joshi, Katia D Pacheco, Neil M Bressler Oct 2020

Low-Shot Deep Learning Of Diabetic Retinopathy With Potential Applications To Address Artificial Intelligence Bias In Retinal Diagnostics And Rare Ophthalmic Diseases, Philippe Burlina, William Paul, Philip Mathew, Neil Joshi, Katia D Pacheco, Neil M Bressler

Faculty, Staff and Students Publications

IMPORTANCE: Recent studies have demonstrated the successful application of artificial intelligence (AI) for automated retinal disease diagnostics but have not addressed a fundamental challenge for deep learning systems: the current need for large, criterion standard-annotated retinal data sets for training. Low-shot learning algorithms, aiming to learn from a relatively low number of training data, may be beneficial for clinical situations involving rare retinal diseases or when addressing potential bias resulting from data that may not adequately represent certain groups for training, such as individuals older than 85 years.

OBJECTIVE: To evaluate whether low-shot deep learning methods are beneficial when using …


Usability Testing Of A Sensor-Controlled Digital Game To Engage Older Adults With Heart Failure In Physical Activity And Weight Monitoring, Kavita Radhakrishnan, Christine Julien, Matthew O'Hair, Thomas Baranowski, Grace Lee, Catherine Allen, Atami Sagna, Edison Thomaz, Miyong Kim Oct 2020

Usability Testing Of A Sensor-Controlled Digital Game To Engage Older Adults With Heart Failure In Physical Activity And Weight Monitoring, Kavita Radhakrishnan, Christine Julien, Matthew O'Hair, Thomas Baranowski, Grace Lee, Catherine Allen, Atami Sagna, Edison Thomaz, Miyong Kim

Faculty, Staff and Students Publications

BACKGROUND: Poor self-management of heart failure (HF) has contributed to poor health outcomes. Sensor-controlled digital games (SCDGs) integrates data from behavior-tracking sensors to trigger progress, rewards, content, and positive feedback in a digital game to motivate real-time behaviors.

OBJECTIVES: To assess the usability of an SCDG prototype over a week of game-playing among 10 older adults with HF in their homes.

METHODS: During initial play, participants' SCDG experiences were observed in their homes using a checklist based on the seven-item Serious Game User Evaluator (SeGUE) instrument. After a week of game-playing, participants completed a survey guided by the Intrinsic Motivation …