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2022

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Long Read Sequencing And Expression Studies Of Ahdc1 Deletions In Xia-Gibbs Syndrome Reveal A Novel Genetic Regulatory Mechanism, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Doddapaneni, Jennifer E Posey, James R Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs Dec 2022

Long Read Sequencing And Expression Studies Of Ahdc1 Deletions In Xia-Gibbs Syndrome Reveal A Novel Genetic Regulatory Mechanism, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Doddapaneni, Jennifer E Posey, James R Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs

Faculty, Staff and Students Publications

Xia-Gibbs syndrome (XGS; MIM# 615829) is a rare mendelian disorder characterized by Development Delay (DD), intellectual disability (ID), and hypotonia. Individuals with XGS typically harbor de novo protein-truncating mutations in the AT-Hook DNA binding motif containing 1 (AHDC1) gene, although some missense mutations can also cause XGS. Large de novo heterozygous deletions that encompass the AHDC1 gene have also been ascribed as diagnostic for the disorder, without substantial evidence to support their pathogenicity. We analyzed 19 individuals with large contiguous deletions involving AHDC1, along with other genes. One individual bore the smallest known contiguous AHDC1 deletion (∼350 Kb), encompassing eight …


K27m In Canonical And Noncanonical H3 Variants Occurs In Distinct Oligodendroglial Cell Lineages In Brain Midline Gliomas, Maud Hulswit, Srinidhi Varadharajan, Hussein Lakkis, Nisha Kabir, Zahedeh Bashardanesh, Steven Hébert, Damien Faury, Maria C Vladoiu, Samantha Worme, Marie Coutelier, Brian Krug, Augusto Faria Andrade, Manav Pathania, Andrea Bajic, Alexander G Weil, Benjamin Ellezam, Jeffrey Atkinson, Roy W R Dudley, Jean-Pierre Farmer, Sebastien Perreault, Benjamin A Garcia, Valérie Larouche, Mathieu Blanchette, Livia Garzia, Aparna Bhaduri, Keith L Ligon, Pratiti Bandopadhayay, Michael D Taylor, Stephen C Mack, Nada Jabado, Claudia L Kleinman Dec 2022

K27m In Canonical And Noncanonical H3 Variants Occurs In Distinct Oligodendroglial Cell Lineages In Brain Midline Gliomas, Maud Hulswit, Srinidhi Varadharajan, Hussein Lakkis, Nisha Kabir, Zahedeh Bashardanesh, Steven Hébert, Damien Faury, Maria C Vladoiu, Samantha Worme, Marie Coutelier, Brian Krug, Augusto Faria Andrade, Manav Pathania, Andrea Bajic, Alexander G Weil, Benjamin Ellezam, Jeffrey Atkinson, Roy W R Dudley, Jean-Pierre Farmer, Sebastien Perreault, Benjamin A Garcia, Valérie Larouche, Mathieu Blanchette, Livia Garzia, Aparna Bhaduri, Keith L Ligon, Pratiti Bandopadhayay, Michael D Taylor, Stephen C Mack, Nada Jabado, Claudia L Kleinman

Faculty, Staff and Students Publications

Canonical (H3.1/H3.2) and noncanonical (H3.3) histone 3 K27M-mutant gliomas have unique spatiotemporal distributions, partner alterations and molecular profiles. The contribution of the cell of origin to these differences has been challenging to uncouple from the oncogenic reprogramming induced by the mutation. Here, we perform an integrated analysis of 116 tumors, including single-cell transcriptome and chromatin accessibility, 3D chromatin architecture and epigenomic profiles, and show that K27M-mutant gliomas faithfully maintain chromatin configuration at developmental genes consistent with anatomically distinct oligodendrocyte precursor cells (OPCs). H3.3K27M thalamic gliomas map to prosomere 2-derived lineages. In turn, H3.1K27M ACVR1-mutant pontine gliomas uniformly mirror early ventral …


Early Phase Trial Of Intracystic Injection Of Large Surface Area Microparticle Paclitaxel For Treatment Of Mucinous Pancreatic Cysts, Antonio Mendoza-Ladd, Shelagh Verco, Wasif Abidi, James Verco, Alison Wendt, Gere Dizerega Dec 2022

Early Phase Trial Of Intracystic Injection Of Large Surface Area Microparticle Paclitaxel For Treatment Of Mucinous Pancreatic Cysts, Antonio Mendoza-Ladd, Shelagh Verco, Wasif Abidi, James Verco, Alison Wendt, Gere Dizerega

Faculty, Staff and Students Publications

Background and study aims  Mucinous pancreatic cystic lesions (PCLs) have the potential for malignant transformation, for which the only accepted curative modality is surgery. A novel intracystic therapy with large surface area microparticle paclitaxel (LSAM-PTX) may treat PCLs without local or systemic toxicities. Safety and preliminary efficacy of LSAM-PTX for the treatment of PCLs administered by endoscopic ultrasound-guided fine-needle injection (EUS-FNI) was evaluated.

Patients and methods  Ten subjects with confirmed PCLs (size > 1.5 cm) received intracystic LSAM-PTX via EUS-FNI at volumes equal to those aspirated from the cyst in sequential cohorts at 6, 10, and 15 mg/mL in a standard …


Effect Of The Environment On Home-Based Self-Sampling Kits For Anal Cancer Screening, Maria E Fernandez, Jennifer S Smith, Ellen A Schneider, Bridgett Brzezinski, Alan G Nyitray Dec 2022

Effect Of The Environment On Home-Based Self-Sampling Kits For Anal Cancer Screening, Maria E Fernandez, Jennifer S Smith, Ellen A Schneider, Bridgett Brzezinski, Alan G Nyitray

Faculty, Staff and Student Publications

BACKGROUND: Anal cancer incidence has increased in Western countries in recent decades and currently there are no consensus screening guidelines. Home-based self-sampling kits might facilitate screening for anal precancer/cancer but could require travel through postal mail where they may experience extreme temperatures or long transport times.

OBJECTIVE: To determine the effect of the environment on specimen adequacy for HPV genotyping of a mailed home-based self-sampling anal cancer screening kit.

STUDY DESIGN: The Prevent Anal Cancer (PAC) Study in Milwaukee, Wisconsin recruited men who have sex with men (MSM) and transgender persons 25 years of age and older. Participants were randomized …


Genetic Diversity Fuels Gene Discovery For Tobacco And Alcohol Use, Mengzhen Liu, Yu Jiang, Chachrit Khunsriraksakul, Jacqueline M Otto, Clifton Addison, Masato Akiyama, Christine M Albert, Fazil Aliev, Alvaro Alonso, Donna K Arnett, Allison E Ashley-Koch, Aneel A Ashrani, Kathleen C Barnes, R Graham Barr, Traci M Bartz, Diane M Becker, Lawrence F Bielak, Emelia J Benjamin, Gyda Bjornsdottir, John Blangero, Eugene R Bleecker, Jason D Boardman, Eric Boerwinkle, Dorret I Boomsma, Meher Preethi Boorgula, Donald W Bowden, Jennifer A Brody, Brian E Cade, Daniel I Chasman, Sameer Chavan, Yii-Der Ida Chen, Zhengming Chen, Iona Cheng, Michael H Cho, Hélène Choquet, John W Cole, Marilyn C Cornelis, Francesco Cucca, Joanne E Curran, Mariza De Andrade, Danielle M Dick, Anna R Docherty, Ravindranath Duggirala, Charles B Eaton, Marissa A Ehringer, Tõnu Esko, Jessica D Faul, Lilian Fernandes Silva, Edoardo Fiorillo, Myriam Fornage, Barry I Freedman, Maiken E Gabrielsen, Melanie E Garrett, Sina A Gharib, Christian Gieger, Nathan Gillespie, David C Glahn, Scott D Gordon, Charles C Gu, Dongfeng Gu, Daniel F Gudbjartsson, Xiuqing Guo, Jeffrey Haessler, Michael E Hall, Toomas Haller, Kathleen Mullan Harris, Jiang He, Pamela Herd, John K Hewitt, Ian Hickie, Bertha Hidalgo, John E Hokanson, Christian Hopfer, Joukejan Hottenga, Lifang Hou, Hongyan Huang, Yi-Jen Hung, David J Hunter, Kristian Hveem, Shih-Jen Hwang, Chii-Min Hwu, William Iacono, Marguerite R Irvin, Yon Ho Jee, Eric O Johnson, Yoonjung Y Joo, Eric Jorgenson, Anne E Justice, Yoichiro Kamatani, Robert C Kaplan, Jaakko Kaprio, Sharon L R Kardia, Matthew C Keller, Tanika N Kelly, Charles Kooperberg, Tellervo Korhonen, Peter Kraft, Kenneth Krauter, Johanna Kuusisto, Markku Laakso, Jessica Lasky-Su, Wen-Jane Lee, James J Lee, Daniel Levy, Liming Li, Kevin Li, Yuqing Li, Kuang Lin, Penelope A Lind, Chunyu Liu, Donald M Lloyd-Jones, Sharon M Lutz, Jiantao Ma, Reedik Mägi, Ani Manichaikul, Nicholas G Martin, Ravi Mathur, Nana Matoba, Patrick F Mcardle, Matt Mcgue, Matthew B Mcqueen, Sarah E Medland, Andres Metspalu, Deborah A Meyers, Iona Y Millwood, Braxton D Mitchell, Karen L Mohlke, Matthew Moll, May E Montasser, Alanna C Morrison, Antonella Mulas, Jonas B Nielsen, Kari E North, Elizabeth C Oelsner, Yukinori Okada, Valeria Orrù, Nicholette D Palmer, Teemu Palviainen, Anita Pandit, S Lani Park, Ulrike Peters, Annette Peters, Patricia A Peyser, Tinca J C Polderman, Nicholas Rafaels, Susan Redline, Robert M Reed, Alex P Reiner, John P Rice, Stephen S Rich, Nicole E Richmond, Carol Roan, Jerome I Rotter, Michael N Rueschman, Valgerdur Runarsdottir, Nancy L Saccone, David A Schwartz, Aladdin H Shadyab, Jingchunzi Shi, Suyash S Shringarpure, Kamil Sicinski, Anne Heidi Skogholt, Jennifer A Smith, Nicholas L Smith, Nona Sotoodehnia, Michael C Stallings, Hreinn Stefansson, Kari Stefansson, Jerry A Stitzel, Xiao Sun, Moin Syed, Ruth Tal-Singer, Amy E Taylor, Kent D Taylor, Marilyn J Telen, Khanh K Thai, Hemant Tiwari, Constance Turman, Thorarinn Tyrfingsson, Tamara L Wall, Robin G Walters, David R Weir, Scott T Weiss, Wendy B White, John B Whitfield, Kerri L Wiggins, Gonneke Willemsen, Cristen J Willer, Bendik S Winsvold, Huichun Xu, Lisa R Yanek, Jie Yin, Kristin L Young, Kendra A Young, Bing Yu, Wei Zhao, Wei Zhou, Sebastian Zöllner, Luisa Zuccolo, 23andme Research Team, Biobank Japan Project, Chiara Batini, Andrew W Bergen, Laura J Bierut, Sean P David, Sarah A Gagliano Taliun, Dana B Hancock, Bibo Jiang, Marcus R Munafò, Thorgeir E Thorgeirsson, Dajiang J Liu, Scott Vrieze Dec 2022

Genetic Diversity Fuels Gene Discovery For Tobacco And Alcohol Use, Mengzhen Liu, Yu Jiang, Chachrit Khunsriraksakul, Jacqueline M Otto, Clifton Addison, Masato Akiyama, Christine M Albert, Fazil Aliev, Alvaro Alonso, Donna K Arnett, Allison E Ashley-Koch, Aneel A Ashrani, Kathleen C Barnes, R Graham Barr, Traci M Bartz, Diane M Becker, Lawrence F Bielak, Emelia J Benjamin, Gyda Bjornsdottir, John Blangero, Eugene R Bleecker, Jason D Boardman, Eric Boerwinkle, Dorret I Boomsma, Meher Preethi Boorgula, Donald W Bowden, Jennifer A Brody, Brian E Cade, Daniel I Chasman, Sameer Chavan, Yii-Der Ida Chen, Zhengming Chen, Iona Cheng, Michael H Cho, Hélène Choquet, John W Cole, Marilyn C Cornelis, Francesco Cucca, Joanne E Curran, Mariza De Andrade, Danielle M Dick, Anna R Docherty, Ravindranath Duggirala, Charles B Eaton, Marissa A Ehringer, Tõnu Esko, Jessica D Faul, Lilian Fernandes Silva, Edoardo Fiorillo, Myriam Fornage, Barry I Freedman, Maiken E Gabrielsen, Melanie E Garrett, Sina A Gharib, Christian Gieger, Nathan Gillespie, David C Glahn, Scott D Gordon, Charles C Gu, Dongfeng Gu, Daniel F Gudbjartsson, Xiuqing Guo, Jeffrey Haessler, Michael E Hall, Toomas Haller, Kathleen Mullan Harris, Jiang He, Pamela Herd, John K Hewitt, Ian Hickie, Bertha Hidalgo, John E Hokanson, Christian Hopfer, Joukejan Hottenga, Lifang Hou, Hongyan Huang, Yi-Jen Hung, David J Hunter, Kristian Hveem, Shih-Jen Hwang, Chii-Min Hwu, William Iacono, Marguerite R Irvin, Yon Ho Jee, Eric O Johnson, Yoonjung Y Joo, Eric Jorgenson, Anne E Justice, Yoichiro Kamatani, Robert C Kaplan, Jaakko Kaprio, Sharon L R Kardia, Matthew C Keller, Tanika N Kelly, Charles Kooperberg, Tellervo Korhonen, Peter Kraft, Kenneth Krauter, Johanna Kuusisto, Markku Laakso, Jessica Lasky-Su, Wen-Jane Lee, James J Lee, Daniel Levy, Liming Li, Kevin Li, Yuqing Li, Kuang Lin, Penelope A Lind, Chunyu Liu, Donald M Lloyd-Jones, Sharon M Lutz, Jiantao Ma, Reedik Mägi, Ani Manichaikul, Nicholas G Martin, Ravi Mathur, Nana Matoba, Patrick F Mcardle, Matt Mcgue, Matthew B Mcqueen, Sarah E Medland, Andres Metspalu, Deborah A Meyers, Iona Y Millwood, Braxton D Mitchell, Karen L Mohlke, Matthew Moll, May E Montasser, Alanna C Morrison, Antonella Mulas, Jonas B Nielsen, Kari E North, Elizabeth C Oelsner, Yukinori Okada, Valeria Orrù, Nicholette D Palmer, Teemu Palviainen, Anita Pandit, S Lani Park, Ulrike Peters, Annette Peters, Patricia A Peyser, Tinca J C Polderman, Nicholas Rafaels, Susan Redline, Robert M Reed, Alex P Reiner, John P Rice, Stephen S Rich, Nicole E Richmond, Carol Roan, Jerome I Rotter, Michael N Rueschman, Valgerdur Runarsdottir, Nancy L Saccone, David A Schwartz, Aladdin H Shadyab, Jingchunzi Shi, Suyash S Shringarpure, Kamil Sicinski, Anne Heidi Skogholt, Jennifer A Smith, Nicholas L Smith, Nona Sotoodehnia, Michael C Stallings, Hreinn Stefansson, Kari Stefansson, Jerry A Stitzel, Xiao Sun, Moin Syed, Ruth Tal-Singer, Amy E Taylor, Kent D Taylor, Marilyn J Telen, Khanh K Thai, Hemant Tiwari, Constance Turman, Thorarinn Tyrfingsson, Tamara L Wall, Robin G Walters, David R Weir, Scott T Weiss, Wendy B White, John B Whitfield, Kerri L Wiggins, Gonneke Willemsen, Cristen J Willer, Bendik S Winsvold, Huichun Xu, Lisa R Yanek, Jie Yin, Kristin L Young, Kendra A Young, Bing Yu, Wei Zhao, Wei Zhou, Sebastian Zöllner, Luisa Zuccolo, 23andme Research Team, Biobank Japan Project, Chiara Batini, Andrew W Bergen, Laura J Bierut, Sean P David, Sarah A Gagliano Taliun, Dana B Hancock, Bibo Jiang, Marcus R Munafò, Thorgeir E Thorgeirsson, Dajiang J Liu, Scott Vrieze

Faculty, Staff and Student Publications

Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1-4. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries5. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power …


Clinical And Patient-Reported Outcomes After Recession Coverage Using Modified Vestibular Incision Subperiosteal Tunnel Access With A Volume-Stable Collagen Matrix As Compared To A Coronally Advanced Flap With A Subepithelial Connective Tissue Graft Dec 2022

Clinical And Patient-Reported Outcomes After Recession Coverage Using Modified Vestibular Incision Subperiosteal Tunnel Access With A Volume-Stable Collagen Matrix As Compared To A Coronally Advanced Flap With A Subepithelial Connective Tissue Graft

Faculty, Staff and Student Publications

Purpose: Coronally advanced split-or full-thickness (CAST or CAFT) flaps in combination with subepithelial connective tissue grafts (SCTGs) are commonly used in root-coverage procedures despite postoperative pain and bleeding from the graft donor site. Therefore, the modified vestibular incision subperiosteal tunnel access procedure (VISTAX) uses a novel collagen matrix (VCMX) instead of autogenous tissue to address the limitations associated with autogenous tissue grafting. This retrospective study compared the clinical outcomes of VISTAX to the results obtained after using a CAST or CAFT flap in combination with SCTG for root coverage.

Methods: Patients with single or multiple adjacent recession I/II defects were …


Social Networks, High-Risk Anal Hpv And Coinfection With Hiv In Young Sexual Minority Men, Lu-Yu Hwang, John A Schneider, Aditya Khanna Dec 2022

Social Networks, High-Risk Anal Hpv And Coinfection With Hiv In Young Sexual Minority Men, Lu-Yu Hwang, John A Schneider, Aditya Khanna

Faculty, Staff and Student Publications

OBJECTIVES: Young sexual minority men (SMM) exhibit a high prevalence and incidence of high-risk genotypes of human papillomavirus (hrHPV) anal infections and a confluence of a high prevalence of HIV and rectal STIs. Social determinants of health (SDOHs) are linked to social network contexts that generate and maintain racial disparities in HIV and STIs. A network perspective was provided to advance our knowledge of drivers of genotype-specific hrHPV infection and coinfection with HIV. The study also examined whether socially connected men are infected with the same high-risk HPV genotypes and, if so, whether this tendency is conditioned on coinfection with …


A Framework For Detecting Noncoding Rare-Variant Associations Of Large-Scale Whole-Genome Sequencing Studies, Margaret Sunitha Selvaraj, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K Arnett, Paul L Auer, Lawrence F Bielak, Joshua C Bis, Thomas W Blackwell, John Blangero, Eric Boerwinkle, Donald W Bowden, Jennifer A Brody, Brian E Cade, Matthew P Conomos, Adolfo Correa, L Adrienne Cupples, Paul S De Vries, Ravindranath Duggirala, Nora Franceschini, Barry I Freedman, Harald H H Göring, Xiuqing Guo, Rita R Kalyani, Charles Kooperberg, Brian G Kral, Leslie A Lange, Bridget M Lin, Ani Manichaikul, Alisa K Manning, Lisa W Martin, Rasika A Mathias, James B Meigs, Braxton D Mitchell, May E Montasser, Alanna C Morrison, Take Naseri, Jeffrey R O'Connell, Nicholette D Palmer, Patricia A Peyser, Bruce M Psaty, Laura M Raffield, Susan Redline, Alexander P Reiner, Muagututi'a Sefuiva Reupena, Kenneth M Rice, Stephen S Rich, Jennifer A Smith, Kent D Taylor, Margaret A Taub, Ramachandran S Vasan, Daniel E Weeks, James G Wilson, Lisa R Yanek, Wei Zhao, Jerome I Rotter, Cristen J Willer, Pradeep Natarajan, Gina M Peloso, Xihong Lin Dec 2022

A Framework For Detecting Noncoding Rare-Variant Associations Of Large-Scale Whole-Genome Sequencing Studies, Margaret Sunitha Selvaraj, Yaowu Liu, Han Chen, Ryan Sun, Rounak Dey, Donna K Arnett, Paul L Auer, Lawrence F Bielak, Joshua C Bis, Thomas W Blackwell, John Blangero, Eric Boerwinkle, Donald W Bowden, Jennifer A Brody, Brian E Cade, Matthew P Conomos, Adolfo Correa, L Adrienne Cupples, Paul S De Vries, Ravindranath Duggirala, Nora Franceschini, Barry I Freedman, Harald H H Göring, Xiuqing Guo, Rita R Kalyani, Charles Kooperberg, Brian G Kral, Leslie A Lange, Bridget M Lin, Ani Manichaikul, Alisa K Manning, Lisa W Martin, Rasika A Mathias, James B Meigs, Braxton D Mitchell, May E Montasser, Alanna C Morrison, Take Naseri, Jeffrey R O'Connell, Nicholette D Palmer, Patricia A Peyser, Bruce M Psaty, Laura M Raffield, Susan Redline, Alexander P Reiner, Muagututi'a Sefuiva Reupena, Kenneth M Rice, Stephen S Rich, Jennifer A Smith, Kent D Taylor, Margaret A Taub, Ramachandran S Vasan, Daniel E Weeks, James G Wilson, Lisa R Yanek, Wei Zhao, Jerome I Rotter, Cristen J Willer, Pradeep Natarajan, Gina M Peloso, Xihong Lin

Faculty, Staff and Student Publications

Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV association. However, existing methods have limited ability in analyzing the noncoding genome. We propose a computationally efficient and robust noncoding RV association detection framework, STAARpipeline, to automatically annotate a whole-genome sequencing study and perform flexible noncoding RV association analysis, including gene-centric analysis and fixed window-based and dynamic window-based non-gene-centric analysis by incorporating variant functional annotations. In gene-centric analysis, STAARpipeline uses STAAR to group noncoding variants based on functional categories of genes and incorporate …


Sex-Related Differences In Violence Exposure, Neural Reactivity To Threat, And Mental Health, Kimberly H Wood, Marc N Elliott, Susan Tortolero Emery, Mark A Schuster, David C Knight Dec 2022

Sex-Related Differences In Violence Exposure, Neural Reactivity To Threat, And Mental Health, Kimberly H Wood, Marc N Elliott, Susan Tortolero Emery, Mark A Schuster, David C Knight

Faculty, Staff and Student Publications

The prefrontal cortex (PFC), hippocampus, and amygdala play an important role in emotional health. However, adverse life events (e.g., violence exposure) affect the function of these brain regions, which may lead to disorders such as depression and anxiety. Depression and anxiety disproportionately affect women compared to men, and this disparity may reflect sex differences in the neural processes that underlie emotion expression and regulation. The present study investigated sex differences in the relationship between violence exposure and the neural processes that underlie emotion regulation. In the present study, 200 participants completed a Pavlovian fear conditioning procedure in which cued and …


Identification Of A Novel Large Multigene Deletion And A Frameshift Indel In Pde6b As The Underlying Cause Of Early-Onset Recessive Rod-Cone Degeneration, Shyamanga Borooah, Stephen P Daiger, Kinga M Bujakowska, Radha Ayaggari Dec 2022

Identification Of A Novel Large Multigene Deletion And A Frameshift Indel In Pde6b As The Underlying Cause Of Early-Onset Recessive Rod-Cone Degeneration, Shyamanga Borooah, Stephen P Daiger, Kinga M Bujakowska, Radha Ayaggari

Faculty, Staff and Student Publications

A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29) in the


A Qualitative Investigation Of The Barriers And Facilitators To Hepatitis C Virus (Hcv) Screening Among Individuals Experiencing Homelessness In Houston, Texas, Vanessa Schick Dec 2022

A Qualitative Investigation Of The Barriers And Facilitators To Hepatitis C Virus (Hcv) Screening Among Individuals Experiencing Homelessness In Houston, Texas, Vanessa Schick

Faculty, Staff and Student Publications

BACKGROUND: Individuals experiencing homelessness may be at a higher risk for hepatitis C infection because many are vulnerable to risk factors related to HCV. Screening is the very first step in the HCV care continuum, but it remains unclear how to improve HCV screening among this hard-to-reach population. Thus, the present study investigated the barriers and facilitators to HCV screening from the perspective of individuals experiencing homelessness within a non-residential social service setting.

METHODS: Individuals experiencing homelessness (aged 18+) were approached while they were seeking services at two community-based organizations in Houston, Texas, during August 2020. Participants (

RESULTS: Participants …


Design For A Cluster Randomized Controlled Trial To Evaluate The Effects Of The Catch Healthy Smiles School-Based Oral Health Promotion Intervention Among Elementary School Children, Steven Kelder, Shreela V Sharma Dec 2022

Design For A Cluster Randomized Controlled Trial To Evaluate The Effects Of The Catch Healthy Smiles School-Based Oral Health Promotion Intervention Among Elementary School Children, Steven Kelder, Shreela V Sharma

Faculty, Staff and Student Publications

BACKGROUND: The top two oral diseases (tooth decay and gum disease) are preventable, yet dental caries is the most common childhood disease with 68% of children entering kindergarten having tooth decay. CATCH Healthy Smiles is a coordinated school health program to prevent cavities for students in kindergarten, 1st, and 2nd grade, and is based on the framework of Coordinated Approach to Child Health (CATCH), an evidence-based coordinated school health program. CATCH has undergone several cluster-randomized controlled trials (CRCT) demonstrating sustainable long-term effectiveness in incorporating the factors surrounding children, in improving eating and physical activity behaviors, and reductions in obesity prevalence …


Clinical Outcomes Associated With Co-Infection Of Carbapenem-Resistant Enterobacterales And Other Multidrug-Resistant Organisms, Charles Darkoh Dec 2022

Clinical Outcomes Associated With Co-Infection Of Carbapenem-Resistant Enterobacterales And Other Multidrug-Resistant Organisms, Charles Darkoh

Faculty, Staff and Student Publications

BACKGROUND: Infections with carbapenem-resistant Enterobacterales (CRE) are associated with increased risk of death. Polymicrobial infections with antimicrobial-resistance may add to the burden of clinical care and patients' clinical prognosis.

AIM: to examine the impact of CRE co-infection with other multi-drug resistant organisms (MDRO) on patient clinical outcomes.

STUDY DESIGN: A retrospective observational study was conducted to compare the clinical outcomes of CRE patients who were co-infected with carbapenem-resistant

RESULTS: A total of 224 CRPA and 209 MDRA co-infections with CRE were identified from 4,236 cases from 2015-2020. The overall 90-day all-cause mortality was 21.6% but increased to 35.0% and 33.5% …


Adverse Drug Events Related To Common Asthma Medications In Us Hospitalized Children, 2000-2016, Nimisha Srikanth Dec 2022

Adverse Drug Events Related To Common Asthma Medications In Us Hospitalized Children, 2000-2016, Nimisha Srikanth

Faculty, Staff and Student Publications

BACKGROUND: The reduction in adverse drug events is a priority in healthcare. Medications are frequently prescribed for asthmatic children, but epidemiological trends of adverse drug events related to anti-asthmatic medications have not been described in hospitalized children.

OBJECTIVE: The objective of this study was to report incidence trends, risk factors, and healthcare utilization of adverse drug events related to anti-asthmatic medications by major drug classes in hospitalized children in the USA from 2000 to 2016.

METHODS: A population-based temporal analysis included those aged 0-20 years who were hospitalized with asthma from the 2000 to 2016 Kids Inpatient Database. Age-stratified weighted …


A Randomized, Sham-Controlled, Quintuple-Blinded Trial To Evaluate The Net Device As An Alternative To Medication For Promoting Opioid Abstinence Dec 2022

A Randomized, Sham-Controlled, Quintuple-Blinded Trial To Evaluate The Net Device As An Alternative To Medication For Promoting Opioid Abstinence

Faculty, Staff and Student Publications

BACKGROUND: There is an unmet need for non-medication approaches to illicit opioid discontinuation and relapse prevention. The NET (NeuroElectric Therapy) Device is a non-invasive, battery-operated, portable, re-useable device designed to deliver bilateral transcranial transcutaneous alternating current electrical stimulation, and is intended to treat opioid use disorder (OUD) without medication. The device is a CE-marked Class IIa, non-significant risk, investigational medical device.

OBJECTIVE: This prospective trial (NRC021) tests the hypothesis that the NET Device provides safe and effective neurostimulation treatment for persons with OUD who express a desire to be opioid abstinent without medications for opioid use disorder (MOUD).

METHODS: NRC021 …


Leveraging Pleiotropy To Discover And Interpret Gwas Results For Sleep-Associated Traits, Heming Wang, Katie L Stone, Sina A Gharib, Sutapa Mukherjee, Lyle J Palmer, David Hillman, Jerome I Rotter, Craig L Hanis, John A Stamatoyannopoulos, Susan Redline, Chris Cotsapas, Shamil R Sunyaev Dec 2022

Leveraging Pleiotropy To Discover And Interpret Gwas Results For Sleep-Associated Traits, Heming Wang, Katie L Stone, Sina A Gharib, Sutapa Mukherjee, Lyle J Palmer, David Hillman, Jerome I Rotter, Craig L Hanis, John A Stamatoyannopoulos, Susan Redline, Chris Cotsapas, Shamil R Sunyaev

Faculty, Staff and Student Publications

Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic associations. We present a strategy to leverage pleiotropy between traits to both discover new loci and to provide mechanistic hypotheses of the underlying pathophysiology. Specifically, we combine a colocalization test with a locus-level test of pleiotropy. In simulations, we show that this approach is highly selective for identifying true pleiotropy driven by the same causative variant, thereby improves the chance to replicate the associations …


Innate Lymphoid Cells In Depression: Current Status And Perspectives Dec 2022

Innate Lymphoid Cells In Depression: Current Status And Perspectives

Faculty, Staff and Student Publications

The recent discovery of innate lymphoid cells (ILCs) has provided new insights into our understanding of the pathogenesis of many disease conditions with immune dysregulation. Type 1 innate lymphoid cells (ILC1s) induce type I immunity and are characterized by the expression of signature cytokine IFN-γ and the master transcription factor T-bet; ILC2s stimulate type II immune responses and are defined by the expression of signature cytokines IL-5 and IL-13, and transcription factors ROR-α and GATA3; ILC3s requires the transcription factor RORγt and produce IL-22 and IL-17. ILCs are largely tissue-resident and are enriched at barrier surfaces of the mammalian body. …


Food Safety Attitudes, Behaviors, And Hygiene Measures Among Predominantly Low-Income Parents In Houston, Texas, Charles Darkoh Dec 2022

Food Safety Attitudes, Behaviors, And Hygiene Measures Among Predominantly Low-Income Parents In Houston, Texas, Charles Darkoh

Faculty, Staff and Student Publications

ABSTRACT: Foodborne infections in the United States affect racial-ethnic minority and low-income populations at higher rates than the general population. to identify the prevalence of food safety behaviors and demographic characteristics associated with food handling practices among a susceptible, high-risk population, a cross-sectional survey was administered to 106 parents with children enrolled at two elementary schools serving predominantly low-income families in Houston, Texas. Relationships between demographic characteristics and food safety behavioral outcomes were examined using cross-tabulations and Fisher's exact test. Most respondents were female (93.4%), Hispanic, Latino, or Mexican American (94.9%), and had no previous food handling employment experience (75.0%). …


Identifying Missing Is-A Relations In Orphanet Rare Disease Ontology Dec 2022

Identifying Missing Is-A Relations In Orphanet Rare Disease Ontology

Faculty, Staff and Student Publications

The Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary encapsulating rare diseases. Downstream applications of ORDO depend on its accuracy to effectively perform their tasks. In this paper, we implement an automated quality assurance pipeline to identify missing is-a relations in ORDO. We first obtain lexical features from concept names. Then we generate related and unrelated feature sharing concept-pairs, where a feature sharing concept-pair can further generate derived term-pairs. If an unrelated and related feature sharing concept-pair generate the same derived term-pair, then we suggest a potential missing is-a relation between the unrelated feature sharing concept-pair. Applying this approach …


A Systematic Approach To Configuring Metamap For Optimal Performance, Yang Gong, James J Cimino, Dean F Sittig, Lior Rennert, David Robinson, Paul Biondich, Adam Wright, Christian Nøhr, Timothy Law, Arild Faxvaag, Ronald Gimbel Dec 2022

A Systematic Approach To Configuring Metamap For Optimal Performance, Yang Gong, James J Cimino, Dean F Sittig, Lior Rennert, David Robinson, Paul Biondich, Adam Wright, Christian Nøhr, Timothy Law, Arild Faxvaag, Ronald Gimbel

Faculty, Staff and Student Publications

BACKGROUND: MetaMap is a valuable tool for processing biomedical texts to identify concepts. Although MetaMap is highly configurative, configuration decisions are not straightforward.

OBJECTIVE: To develop a systematic, data-driven methodology for configuring MetaMap for optimal performance.

METHODS: MetaMap, the word2vec model, and the phrase model were used to build a pipeline. For unsupervised training, the phrase and word2vec models used abstracts related to clinical decision support as input. During testing, MetaMap was configured with the default option, one behavior option, and two behavior options. For each configuration, cosine and soft cosine similarity scores between identified entities and gold-standard terms were …


The Lived Educational Experiences Of Student Clinicians With Non-Apparent Disabilities In Communication Sciences And Disorders: Perspectives Of Recent Graduates On The Current Culture Of Inclusion, Leslie A. Grubler Dec 2022

The Lived Educational Experiences Of Student Clinicians With Non-Apparent Disabilities In Communication Sciences And Disorders: Perspectives Of Recent Graduates On The Current Culture Of Inclusion, Leslie A. Grubler

Education Doctoral

The purpose of this study was to examine retrospectively the lived educational experiences of 10 former student clinicians with non-apparent disabilities as they navigated their graduate clinical education programs in communication sciences and disorders. The goal of this study was to gain insight into the culture of inclusion using a qualitative research design. As a first study on this topic in the discipline of communication sciences and disorders, a descriptive phenomenological approach was utilized to ascertain and explore the participants’ individual experiences. Semi-structured interviews were employed as the primary method to collect, code, and analyze the data. A mosaic of …


Political Signalling And Emissions Trading Schemes In China: Insights From Guangdong Province, Chen Xiang, Terry Van Gevelt Dec 2022

Political Signalling And Emissions Trading Schemes In China: Insights From Guangdong Province, Chen Xiang, Terry Van Gevelt

Research Collection College of Integrative Studies

China's approach to environmental regulation relies heavily on campaign-style enforcement and blunt-force regulation. While considered effective in the short run, this approach is often inefficient and generates unintended regulatory outcomes in the longer run. At the same time, China continues to experiment with the use of market-based approaches that are theoretically more efficient and have the potential to facilitate sustained reductions in carbon emissions. Arguably the most high-profile example is the Guangdong Emissions Trading Scheme (ETS), which was launched in 2013 as a national pilot scheme. We construct a synthetic control of Guangdong and analyse 51,076 party-led newspaper reports to …


Toxic Effect Of Fear Of Losing Out On Self-Esteem: A Moderated Mediation Model Of Conformity And Need For Cognitive Closure In Singapore, Sheila Xi Rui Wee, Chi-Ying Cheng, Haelim Choi, Ciping Goh Dec 2022

Toxic Effect Of Fear Of Losing Out On Self-Esteem: A Moderated Mediation Model Of Conformity And Need For Cognitive Closure In Singapore, Sheila Xi Rui Wee, Chi-Ying Cheng, Haelim Choi, Ciping Goh

Research Collection School of Social Sciences

Kiasu (fear of losing out, FoLO) is considered the single most defining adjective that captures Singapore identity, and it is well-observed in other Asian cultures as well. Despite the widespread endorsement of kiasu in Singapore, there is limited empirical research on the theoretical conception of kiasu as a psychological construct. To empirically investigate kiasu, we validated the construct and measurement of the FoLO mindset in Study 1. In Study 2, we hypothesized and found a negative association between FoLO and Singaporeans’ self-esteem, which was mediated by a higher tendency of conformity. In addition, we hypothesized and found that individuals’ need …


Dispositional Gratitude, Health-Related Factors, And Lipid Profiles In Midlife: A Biomarker Study, Andree Hartanto, Nadyanna M. Majeed, Verity Y. Q. Lua, Joax Wong, Nicole R.Y. Chen Dec 2022

Dispositional Gratitude, Health-Related Factors, And Lipid Profiles In Midlife: A Biomarker Study, Andree Hartanto, Nadyanna M. Majeed, Verity Y. Q. Lua, Joax Wong, Nicole R.Y. Chen

Research Collection School of Social Sciences

Dispositional gratitude has emerged in the literature to be associated with many health benefits in measures ranging from self-reported health to biomarkers of cardiovascular risk. However, little is known about the link between dispositional gratitude and lipid profiles. Drawing from the Gratitude and Self-improvement Model that grateful individuals are more likely to strive for actual self-improvement such as engaging in healthy lifestyles, we investigated the relation between dispositional gratitude and serum lipid levels. Participants consisted of 1800 adults from the National Survey of Midlife Development in the United States (MIDUS) 2: Biomarker Project (N= 1054) and MIDUS Refresher: Biomarker Project …


Nutritional Status, Health Risk Behaviors, And Eating Habits Are Correlated With Physical Activity And Exercise Of Brazilian Older Hypertensive Adults: A Cross-Sectional Study, Leonardo Santos Lopes Da Silva, Daniel De Freitas Batalhão, Anderson Dos Santos Carvalho, Lucimere Bohn, Nilo César Ramos, Pedro Pugliesi Abdalla Dec 2022

Nutritional Status, Health Risk Behaviors, And Eating Habits Are Correlated With Physical Activity And Exercise Of Brazilian Older Hypertensive Adults: A Cross-Sectional Study, Leonardo Santos Lopes Da Silva, Daniel De Freitas Batalhão, Anderson Dos Santos Carvalho, Lucimere Bohn, Nilo César Ramos, Pedro Pugliesi Abdalla

Teacher Education

Background: Nutritional status, health risk behaviors, eating habits, and other comorbidities (such as diabetes) may be associated with recommended amounts of physical activity (PA) and exercise (EX) in healthy older adults. However, these associations are still unclear for older hypertensive adults, who require greater care from health professionals. The purpose of this study was to associate the nutritional status, health risk behaviors, eating habits, and the presence of diabetes with recommended amounts of physical activity and exercise practice of older hypertensive adults. Methods: Ten thousand seven hundred eighty-nine older hypertensive adults (70.9 ± 7.4 years) from the VIGITEL telephone survey …


Illinois State University, One Hundred And Sixty-Third Annual Commencement, December 2022, Illinois State University Dec 2022

Illinois State University, One Hundred And Sixty-Third Annual Commencement, December 2022, Illinois State University

Commencement Programs

Illinois State University
One Hundred and Sixty-Third Annual Commencement
December 2022


Impact Of Colchicine On Mortality And Morbidity In Covid-19: A Systematic Review., Devang Sanghavi, Pankaj Bansal, Ikwinder Preet Kaur, Mohsin Sheraz Mughal, Chandana Keshavamurthy, Austin Cusick, Jennifer Schram, Siva Naga S Yarrarapu, Abhishek R Giri, Nirmaljot Kaur, Pablo Moreno Franco, Andy Abril, Fawad Aslam Dec 2022

Impact Of Colchicine On Mortality And Morbidity In Covid-19: A Systematic Review., Devang Sanghavi, Pankaj Bansal, Ikwinder Preet Kaur, Mohsin Sheraz Mughal, Chandana Keshavamurthy, Austin Cusick, Jennifer Schram, Siva Naga S Yarrarapu, Abhishek R Giri, Nirmaljot Kaur, Pablo Moreno Franco, Andy Abril, Fawad Aslam

Pharmacy Articles

INTRODUCTION: Colchicine, because of its anti-inflammatory and possible anti-viral properties, has been proposed as potential therapeutic option for COVID-19. The role of colchicine to mitigate "cytokine storm" and to decrease the severity and mortality associated with COVID-19 has been evaluated in many studies.

OBJECTIVE: To evaluate the role of colchicine on morbidity and mortality in COVID-19 patients.

METHODS: This systematic review was conducted in accordance with the PRISMA recommendations. The literature search was conducted in 6 medical databases from inception to February 17, 2021 to identify studies evaluating colchicine as a therapeutic agent in COVID-19. All included studies were evaluated …


Rsif Ethiopia Country Report 2022, Regional Scholarship And Innovation Fund (Rsif) Dec 2022

Rsif Ethiopia Country Report 2022, Regional Scholarship And Innovation Fund (Rsif)

Rsif Country Progress Reports

Ethiopia is a founding member of PASET and has committed to make an initial USD 2 million contribution to Rsif. There are 11 competitively selected Ethiopian Rsif doctoral scholars (55% women) registered in four thematic areas in seven different Rsif African host universities across the continent. There are so far 6 journal publications by the Ethiopian Rsif students. Haramaya University was competitively selected as an Rsif African Host University in climate change and admitted its first cohort of Rsif funded PhD students in 2022. The African Center of Excellence for Climate Smart Agriculture and Biodiversity is hosting 9 Rsif students …


Thither The Russian Navy? Putin’S Navalization In A Historical Context, William Emerson Bunn Dec 2022

Thither The Russian Navy? Putin’S Navalization In A Historical Context, William Emerson Bunn

Graduate Program in International Studies Theses & Dissertations

The Syrian operation of 2012 was the first successful employment by Russia of expeditionary warfare, narrowly defined as naval support to Russian (or Soviet) ground forces in a war away from their periphery (i.e., in a country that does not border them), from the sea. This was brought about in part by the development of two types of cruise missiles: advanced anti-ship missiles (which protects their expeditionary force from NATO naval units, enabling local sea control) and new land attack cruise missiles (similar in design and capability to the U.S. Tomahawk). In the past geographical, technological and political constraints …


Comparison Of Fuzzy And Neural Network Computing Techniques For Performance Prediction Of An Industrial Copper Flotation Circuit, Ivana Jovanović, Fardis Nakhaei, Daniel Kržanović, Vesna Conić, Daniela Urošević Dec 2022

Comparison Of Fuzzy And Neural Network Computing Techniques For Performance Prediction Of An Industrial Copper Flotation Circuit, Ivana Jovanović, Fardis Nakhaei, Daniel Kržanović, Vesna Conić, Daniela Urošević

Mining Engineering Faculty Research & Creative Works

This paper presents the development and validation of five different soft computing methods for flotation performance prediction: (1) two models based on fuzzy logic (Mamdani and Takagi-Sugeno fuzzy inference system) and (2) three models based on artificial neural networks. Copper content in the ore feed, collector dosage in the rougher and the scavenger flotation circuits, slurry pH in the rougher flotation circuit and frother consumption were selected as input parameters to estimate the copper grade and recovery of final concentrate, as well as the copper content in the final tailings of the flotation plant. The training and evaluation of the …