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2024

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Full-Text Articles in Medicine and Health Sciences

2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intraabdominal Infections: Diagnostic Imaging Of Suspected Acute Cholecystitis And Acute Cholangitis In Adults, Children, And Pregnant People, Robert A Bonomo, Morven S Edwards, Fredrick M Abrahamian, Mary Bessesen, Anthony W Chow, E Patchen Dellinger, Ellie Goldstein, Mary K Hayden, Romney Humphries, Kaye, Brian A Potoski, Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Pranita D Tamma, Katelyn Donnelly, Jennifer Loveless Oct 2024

2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intraabdominal Infections: Diagnostic Imaging Of Suspected Acute Cholecystitis And Acute Cholangitis In Adults, Children, And Pregnant People, Robert A Bonomo, Morven S Edwards, Fredrick M Abrahamian, Mary Bessesen, Anthony W Chow, E Patchen Dellinger, Ellie Goldstein, Mary K Hayden, Romney Humphries, Kaye, Brian A Potoski, Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Pranita D Tamma, Katelyn Donnelly, Jennifer Loveless

Faculty, Staff and Students Publications

This article is part of a clinical practice guideline update on the risk assessment, diagnostic imaging, and microbiological evaluation of complicated intraabdominal infections in adults, children, and pregnant people, developed by the Infectious Diseases Society of America. In this article, the panel provides recommendations for diagnostic imaging of suspected acute cholecystitis and acute cholangitis. The panel's recommendations are based on evidence derived from systematic literature reviews and adhere to a standardized methodology for rating the certainty of evidence and strength of recommendation according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach.


2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intra-Abdominal Infections: Utility Of Intra-Abdominal Fluid Cultures In Adults, Children, And Pregnant People, Robert A Bonomo, Romney Humphries, Fredrick M Abrahamian, Mary Bessesen, Anthony W Chow, E Patchen Dellinger, Morven S Edwards, Ellie Goldstein, Mary K Hayden, Keith S Kaye, Brian A Potoski, Jesús Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Pranita D Tamma, Katelyn Donnelly, Jennifer Loveless Oct 2024

2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intra-Abdominal Infections: Utility Of Intra-Abdominal Fluid Cultures In Adults, Children, And Pregnant People, Robert A Bonomo, Romney Humphries, Fredrick M Abrahamian, Mary Bessesen, Anthony W Chow, E Patchen Dellinger, Morven S Edwards, Ellie Goldstein, Mary K Hayden, Keith S Kaye, Brian A Potoski, Jesús Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Pranita D Tamma, Katelyn Donnelly, Jennifer Loveless

Faculty, Staff and Students Publications

This paper is part of a clinical practice guideline update on the risk assessment, diagnostic imaging, and microbiological evaluation of complicated intra-abdominal infections in adults, children, and pregnant people, developed by the Infectious Diseases Society of America. In this paper, the panel provides recommendations for obtaining cultures of intra-abdominal fluid in patients with known or suspected intra-abdominal infection. The panel's recommendations are based on evidence derived from systematic literature reviews and adhere to a standardized methodology for rating the certainty of evidence and strength of recommendation according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach.


2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intra-Abdominal Infections: Risk Assessment, Diagnostic Imaging, And Microbiological Evaluation In Adults, Children, And Pregnant People, Robert A Bonomo, Anthony W Chow, Morven S Edwards, Romney Humphries, Pranita D Tamma, Fredrick M Abrahamian, Mary Bessesen, E Patchen Dellinger, Ellie Goldstein, Mary K Hayden, Keith S Kaye, Brian A Potoski, Jesús Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Sarah Pahlke, Katelyn Donnelly, Jennifer Loveless Oct 2024

2024 Clinical Practice Guideline Update By The Infectious Diseases Society Of America On Complicated Intra-Abdominal Infections: Risk Assessment, Diagnostic Imaging, And Microbiological Evaluation In Adults, Children, And Pregnant People, Robert A Bonomo, Anthony W Chow, Morven S Edwards, Romney Humphries, Pranita D Tamma, Fredrick M Abrahamian, Mary Bessesen, E Patchen Dellinger, Ellie Goldstein, Mary K Hayden, Keith S Kaye, Brian A Potoski, Jesús Rodríguez-Baño, Robert Sawyer, Marion Skalweit, David R Snydman, Sarah Pahlke, Katelyn Donnelly, Jennifer Loveless

Faculty, Staff and Students Publications

As the first part of an update to the clinical practice guideline on the diagnosis and management of complicated intra-abdominal infections in adults, children, and pregnant people, developed by the Infectious Diseases Society of America, the panel presents 21 updated recommendations. These recommendations span risk assessment, diagnostic imaging, and microbiological evaluation. The panel's recommendations are based on evidence derived from systematic literature reviews and adhere to a standardized methodology for rating the certainty of evidence and strength of recommendation according to the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) approach.


Multi-Ancestry Gwas Meta-Analyses Of Lung Cancer Reveal Susceptibility Loci And Elucidate Smoking-Independent Genetic Risk, Bryan R Gorman, Sun-Gou Ji, Michael Francis, Anoop K Sendamarai, Yunling Shi, Poornima Devineni, Uma Saxena, Elizabeth Partan, Andrea K Devito, Jinyoung Byun, Younghun Han, Xiangjun Xiao, Don D Sin, Wim Timens, Jennifer Moser, Sumitra Muralidhar, Rachel Ramoni, Rayjean J Hung, James D Mckay, Yohan Bossé, Ryan Sun, Christopher I Amos, Va Million Veteran Program, Saiju Pyarajan Oct 2024

Multi-Ancestry Gwas Meta-Analyses Of Lung Cancer Reveal Susceptibility Loci And Elucidate Smoking-Independent Genetic Risk, Bryan R Gorman, Sun-Gou Ji, Michael Francis, Anoop K Sendamarai, Yunling Shi, Poornima Devineni, Uma Saxena, Elizabeth Partan, Andrea K Devito, Jinyoung Byun, Younghun Han, Xiangjun Xiao, Don D Sin, Wim Timens, Jennifer Moser, Sumitra Muralidhar, Rachel Ramoni, Rayjean J Hung, James D Mckay, Yohan Bossé, Ryan Sun, Christopher I Amos, Va Million Veteran Program, Saiju Pyarajan

Faculty, Staff and Student Publications

Lung cancer remains the leading cause of cancer mortality, despite declining smoking rates. Previous lung cancer GWAS have identified numerous loci, but separating the genetic risks of lung cancer and smoking behavioral susceptibility remains challenging. Here, we perform multi-ancestry GWAS meta-analyses of lung cancer using the Million Veteran Program cohort (approximately 95% male cases) and a previous study of European-ancestry individuals, jointly comprising 42,102 cases and 181,270 controls, followed by replication in an independent cohort of 19,404 cases and 17,378 controls. We then carry out conditional meta-analyses on cigarettes per day and identify two novel, replicated loci, including the 19p13.11 …


Wmdds Bulletin Holiday 2022 Oct 2024

Wmdds Bulletin Holiday 2022

West Michigan District Dental Society Bulletin

In the Holiday 2022 issue, the reader will find the following feature articles:

  • What Is an Action Alert?
  • 2022 Election Updates

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Wmdds Bulletin Fall 2022 Oct 2024

Wmdds Bulletin Fall 2022

West Michigan District Dental Society Bulletin

In the Fall 2022 issue, the reader will find the following feature articles:

  • Grassroots Legislative Zoom
  • 2022 West Michigan Dental Foundation Golf Outing
  • 2022 Directory Corrections/Additions

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Wmdds Bulletin Summer 2022 Oct 2024

Wmdds Bulletin Summer 2022

West Michigan District Dental Society Bulletin

In the Summer 2022 issue, the reader will find the following feature articles:

  • Interfaith Refugee Dental Program Comes to West Michigan
  • Grassroots Events 101

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Wmdds Bulletin Spring 2022 Oct 2024

Wmdds Bulletin Spring 2022

West Michigan District Dental Society Bulletin

In the Spring 2022 issue, the reader will find the following feature articles:

  • WMDDS at the MDA Annual Session
  • New Dentist Forum: Six Years of Leadership Celebrated
  • Dentists Beyond the Chair: Tom Anderson, Eckrich’s College Football Playoff National Tailgate Champion

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Wmdds Bulletin Winter 2022 Oct 2024

Wmdds Bulletin Winter 2022

West Michigan District Dental Society Bulletin

In the Winter 2022 issue, the reader will find the following feature articles:

  • 2022 Silent Bell Recipient: Dr. John Vander Kolk
  • Tips and Tidbits: A Look at Dentist CE Requirements
  • Tips and Tidbits: ADA CE Course Explains New Treatment Model for Children
  • A guest article, Greater Calling: Becoming a Global Change Agent

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Dental Compacts, Bill Sullivan Jd Oct 2024

Dental Compacts, Bill Sullivan Jd

West Michigan District Dental Society Bulletin

This Advocacy Avenue article covers all things dental compacts, including current policy. It is adapted from an interview with Bill Sullivan, MDA Vice President of Advocacy and Professional Affairs.


Wmdds Bulletin Summer 2024 Oct 2024

Wmdds Bulletin Summer 2024

West Michigan District Dental Society Bulletin

In the Summer 2024 issue, the reader will find the following feature articles:

  • Camp Blodgett Receives MDA Public Relations Grant Money
  • Meet John Tramontana, the New Executive Director of the MDA
  • Advocacy Avenue: Dental Compacts

Also included are your monthly tripartite update, news from West Michigan counties, the President's Message and Editor's Letter.


Oral Manifestations Of The Dengue Virus, Griffin S. Eisele, Roman E. Brown Bs, Kristi Soileau Dds, Med, Mshce, Facd, Ficd Oct 2024

Oral Manifestations Of The Dengue Virus, Griffin S. Eisele, Roman E. Brown Bs, Kristi Soileau Dds, Med, Mshce, Facd, Ficd

New Orleans Dental Association News

Dengue Fever, caused by the DENV virus, is a growing health concern, especially in arid regions. The disease presents oral symptoms that dentists must recognize for timely diagnosis. Dental professionals should exercise caution during surgical procedures due to potential hemorrhagic complications. Early identification and management of oral manifestations can prevent severe outcomes.


Stigma Experience Of Men With Eating Disorders: A Scoping Review, Rachael Maloney, Louise Lunney, Olivia-Mari Lennox, Elena Vaughan, Colette Kelly Oct 2024

Stigma Experience Of Men With Eating Disorders: A Scoping Review, Rachael Maloney, Louise Lunney, Olivia-Mari Lennox, Elena Vaughan, Colette Kelly

Journal of Social Care

This scoping review aimed to synthesise the literature concerning the stigma experiences of men with eating disorders. Seven databases were searched using relevant keywords and subject headings. Following deduplication, articles published since 2000 were screened against eligibility criteria. Key information was charted and analysed using descriptive statistics and deductive content analysis. The final sample (n=9) was synthesised under four categories of stigma experiences within the Health Stigma and Discrimination Framework. Internalised stigma was the most prevalent stigma experience across the included studies. This review suggests that men with eating disorders experience stigma in many forms and across various contexts, including …


Health Matters! Coloring And Activity Booklet (16-Pages), Your Very Favorite, Children's Health, Lorraine Sheldon, May Bressler Oct 2024

Health Matters! Coloring And Activity Booklet (16-Pages), Your Very Favorite, Children's Health, Lorraine Sheldon, May Bressler

English

Health Matters! is a English-language health literacy resource designed for pediatric patients and their families. Written at an approximately 6th-grade reading level, it supports patient education through engaging coloring and activity pages.

This booklet version includes a smaller selection of materials from the larger Health Matters! book. Developed for use in both hospital settings and the broader community, the resource promotes learning through interactive, age-appropriate activities.

This printable PDF version contains the complete collection of activities and comprises 16 pages. The resource was commissioned by Children's Health and prepared by Your Very Favorite.


Tirzepatide Prescribing Practices And Efficacy In Patients With Diabetes And Chronic Kidney Disease At A Large Tertiary Care Center In The United States, Sriya Amruta Kosaraju, Rong M Zhang Oct 2024

Tirzepatide Prescribing Practices And Efficacy In Patients With Diabetes And Chronic Kidney Disease At A Large Tertiary Care Center In The United States, Sriya Amruta Kosaraju, Rong M Zhang

2020-Current year OA Pubs

PURPOSE: Chronic kidney disease is a frequent complication of diabetes mellitus. Tirzepatide is the first dual glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonist approved for glycemic control in patients with type 2 diabetes. We present the efficacy and prescribing practices of tirzepatide in a cohort with diabetes and chronic kidney disease in a large tertiary care setting.

METHODS: We retrospectively identified new outpatient tirzepatide prescriptions in adults ≥18 years with diabetes and chronic kidney disease stages 1-5 from 2022 to 2023 across the Barnes Jewish Hospital system (St Louis, Missouri).

RESULTS: We identified 102 subjects with chronic kidney disease …


Two Lives, Shruti Trehan Mbbs Oct 2024

Two Lives, Shruti Trehan Mbbs

Journal of Wellness

A busy oncologist makes a decision to leave her busy, thriving, community practice in the Mid-West and moves to a Veterans Affairs hospital in South Florida in the quest for a better work-life balance.


Correction: Nac1 Promotes Stemness And Regulates Myeloid‑Derived Cell Status In Triple‑Negative Breast Cancer., Chrispus Ngule, Ruyi Shi, Xingcong Ren, Hongyan Jia, Felix Oyelami, Dong Li, Younhee Park, Jinhwan Kim, Hami Hemati, Yi Zhang, Xiaofang Xiong, Andrew Shinkle, Nathan L. Vanderford, Sara Bachert, Binhua P. Zhou, Jianlong Wang, Jianxun Song, Xia Liu, Jin-Ming Yang Oct 2024

Correction: Nac1 Promotes Stemness And Regulates Myeloid‑Derived Cell Status In Triple‑Negative Breast Cancer., Chrispus Ngule, Ruyi Shi, Xingcong Ren, Hongyan Jia, Felix Oyelami, Dong Li, Younhee Park, Jinhwan Kim, Hami Hemati, Yi Zhang, Xiaofang Xiong, Andrew Shinkle, Nathan L. Vanderford, Sara Bachert, Binhua P. Zhou, Jianlong Wang, Jianxun Song, Xia Liu, Jin-Ming Yang

Markey Cancer Center Faculty Publications

No abstract provided.


Whole-Genome Sequencing In 333,100 Individuals Reveals Rare Non-Coding Single Variant And Aggregate Associations With Height, Gareth Hawkes, Robin N Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M Albert, Donna K Arnett, Allison E Ashley-Koch, Aneel A Ashrani, Kathleen C Barnes, Eric Boerwinkle, Jennifer A Brody, April P Carson, Nathalie Chami, Yii-Der Ida Chen, Mina K Chung, Joanne E Curran, Dawood Darbar, Patrick T Ellinor, Myrian Fornage, Victor R Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R Kalyani, Robert Kaplan, Sharon L R Kardia, Charles Kooperberg, Ruth J F Loos, Steven A Lubitz, Ryan L Minster, Take Naseri, Satupa'itea Viali, Braxton D Mitchell, Joanne M Murabito, Nicholette D Palmer, Bruce M Psaty, Susan Redline, M Benjamin Shoemaker, Edwin K Silverman, Marilyn J Telen, Scott T Weiss, Lisa R Yanek, Hufeng Zhou, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Ching-Ti Liu, Kari E North, Anne E Justice, Jonathan M Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M Frayling, Caroline F Wright, Andrew R Wood, Xihong Lin, Alisa Manning, Michael N Weedon Oct 2024

Whole-Genome Sequencing In 333,100 Individuals Reveals Rare Non-Coding Single Variant And Aggregate Associations With Height, Gareth Hawkes, Robin N Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M Albert, Donna K Arnett, Allison E Ashley-Koch, Aneel A Ashrani, Kathleen C Barnes, Eric Boerwinkle, Jennifer A Brody, April P Carson, Nathalie Chami, Yii-Der Ida Chen, Mina K Chung, Joanne E Curran, Dawood Darbar, Patrick T Ellinor, Myrian Fornage, Victor R Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R Kalyani, Robert Kaplan, Sharon L R Kardia, Charles Kooperberg, Ruth J F Loos, Steven A Lubitz, Ryan L Minster, Take Naseri, Satupa'itea Viali, Braxton D Mitchell, Joanne M Murabito, Nicholette D Palmer, Bruce M Psaty, Susan Redline, M Benjamin Shoemaker, Edwin K Silverman, Marilyn J Telen, Scott T Weiss, Lisa R Yanek, Hufeng Zhou, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Ching-Ti Liu, Kari E North, Anne E Justice, Jonathan M Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M Frayling, Caroline F Wright, Andrew R Wood, Xihong Lin, Alisa Manning, Michael N Weedon

Faculty, Staff and Student Publications

The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare ( < 0.1% minor-allele-frequency) single-variant and aggregate testing of non-coding variants in regulatory regions based on proximal-regulatory, intergenic-regulatory and deep-intronic annotation. We observed 29 independent variants associated with height at P < 6×10-10" role="presentation" style="box-sizing: inherit; display: inline-block; line-height: 0; font-size: 18.08px; font-size-adjust: none; overflow-wrap: normal; text-wrap-mode: nowrap; float: none; direction: ltr; max-width: none; max-height: none; min-width: 0px; min-height: 0px; border: 0px; margin: 0px; padding: 1px 0px; color: rgb(33, 33, 33); font-family: BlinkMacSystemFont, -apple-system, "Segoe UI", Roboto, Oxygen, Ubuntu, Cantarell, "Fira Sans", "Droid Sans", "Helvetica Neue", sans-serif; position: relative;">6×10−106×10-10 after conditioning on previously reported variants, with effect sizes ranging from -7cm to +4.7 cm. We also identified and replicated non-coding aggregate-based associations proximal to HMGA1 containing variants associated with a 5 cm taller height and of highly-conserved variants in …


Evaluation Of An Educational Intervention Focused On Intake And Output Documentation, Ingrid Lea Bloomfield Oct 2024

Evaluation Of An Educational Intervention Focused On Intake And Output Documentation, Ingrid Lea Bloomfield

Walden Dissertations and Doctoral Studies

Heart failure (HF) is the primary reason for hospital admissions in the United States, accounting for almost 6.5 million hospital days per year and for 8.5% of cardiovascular deaths. As part of care delivery and supported by the evidence, providers use intake and output (I&O) to guide a HF patient’s overall treatment plan. Following several reviews in the local organization, it was determined that I&O documentation sheets were incomplete or not completed at all. Thus, organizational leadership determined that an educational intervention focused on I&O monitoring and documentation as part of the HF patient treatment plan would address this gap-in-practice. …


Arid1a-Baf Coordinates Zic2 Genomic Occupancy For Epithelial-To-Mesenchymal Transition In Cranial Neural Crest Specification, Samantha M. Barnada, Aida Giner De Gracia, Cruz Morenilla-Palao, Maria Teresa López-Cascales, Chiara Scopa, Francis J. Waltrich, Harald M.M. Mikkers, Maria Elena Cicardi, Jonathan Karlin, Davide Trotti, Kevin A. Peterson, Samantha A. Brugmann, Gijs W.E. Santen, Steven B. Mcmahon, Eloísa Herrera, Marco Trizzino Oct 2024

Arid1a-Baf Coordinates Zic2 Genomic Occupancy For Epithelial-To-Mesenchymal Transition In Cranial Neural Crest Specification, Samantha M. Barnada, Aida Giner De Gracia, Cruz Morenilla-Palao, Maria Teresa López-Cascales, Chiara Scopa, Francis J. Waltrich, Harald M.M. Mikkers, Maria Elena Cicardi, Jonathan Karlin, Davide Trotti, Kevin A. Peterson, Samantha A. Brugmann, Gijs W.E. Santen, Steven B. Mcmahon, Eloísa Herrera, Marco Trizzino

Department of Biochemistry and Molecular Biology Faculty Papers

The BAF chromatin remodeler regulates lineage commitment including cranial neural crest cell (CNCC) specification. Variants in BAF subunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial features and intellectual disability. Approximately 50% of individuals with CSS harbor variants in one of the mutually exclusive BAF subunits, ARID1A/ARID1B. While Arid1a deletion in mouse neural crest causes severe craniofacial phenotypes, little is known about the role of ARID1A in CNCC specification. Using CSS-patient-derived ARID1A induced pluripotent stem cells to model CNCC specification, we discovered that ARID1A-haploinsufficiency impairs epithelial-to-mesenchymal transition (EMT), a process necessary for CNCC delamination and migration from …


Romi: A Randomized Two-Stage Basket Trial Design To Optimize Doses For Multiple Indications, Shuqi Wang, Peter F Thall, Kentaro Takeda, Ying Yuan Oct 2024

Romi: A Randomized Two-Stage Basket Trial Design To Optimize Doses For Multiple Indications, Shuqi Wang, Peter F Thall, Kentaro Takeda, Ying Yuan

Faculty, Staff and Student Publications

Optimizing doses for multiple indications is challenging. The pooled approach of finding a single optimal biological dose (OBD) for all indications ignores that dose-response or dose-toxicity curves may differ between indications, resulting in varying OBDs. Conversely, indication-specific dose optimization often requires a large sample size. To address this challenge, we propose a Randomized two-stage basket trial design that Optimizes doses in Multiple Indications (ROMI). In stage 1, for each indication, response and toxicity are evaluated for a high dose, which may be a previously obtained maximum tolerated dose, with a rule that stops accrual to indications where the high dose …


Syntaxin 3b: A Snare Protein Required For Vision, Himani Dey, Mariajose Perez-Hurtado, Ruth Heidelberger Oct 2024

Syntaxin 3b: A Snare Protein Required For Vision, Himani Dey, Mariajose Perez-Hurtado, Ruth Heidelberger

Faculty, Staff and Student Publications

Syntaxin 3 is a member of a large protein family of syntaxin proteins that mediate fusion between vesicles and their target membranes. Mutations in the ubiquitously expressed syntaxin 3A splice form give rise to a serious gastrointestinal disorder in humans called microvillus inclusion disorder, while mutations that additionally involve syntaxin 3B, a splice form that is expressed primarily in retinal photoreceptors and bipolar cells, additionally give rise to an early onset severe retinal dystrophy. In this review, we discuss recent studies elucidating the roles of syntaxin 3B and the regulation of syntaxin 3B functionality in membrane fusion and neurotransmitter release …


Whole-Exome Sequencing Uncovers The Genetic Complexity Of Bicuspid Aortic Valve In Families With Early-Onset Complications, Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector I Michelena, Julie De Backer, Laura Muiño Mosquera, Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, Ilenia Foffa, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Shaine A Morris, Simon C Body, Jessica X Chong, Michael J Bamshad, Dianna M Milewicz, Siddharth K Prakash Oct 2024

Whole-Exome Sequencing Uncovers The Genetic Complexity Of Bicuspid Aortic Valve In Families With Early-Onset Complications, Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector I Michelena, Julie De Backer, Laura Muiño Mosquera, Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, Ilenia Foffa, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Shaine A Morris, Simon C Body, Jessica X Chong, Michael J Bamshad, Dianna M Milewicz, Siddharth K Prakash

Faculty, Staff and Student Publications

Bicuspid aortic valve (BAV) is the most common congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that specific gene variants predispose to early-onset complications of BAV (EBAV). We analyzed whole-exome sequences (WESs) to identify rare coding variants that contribute to BAV disease in 215 EBAV-affected families. Predicted damaging variants in candidate genes with moderate or strong supportive evidence to cause developmental cardiac phenotypes were present in 107 EBAV-affected families (50% of total), including genes that cause BAV (9%) or heritable thoracic aortic disease (HTAD, 19%). After appropriate filtration, we also identified 129 variants in 54 candidate …


Likelihood Adaptively Incorporated External Aggregate Information With Uncertainty For Survival Data, Ziqi Chen, Yu Shen, Jing Qin, Jing Ning Oct 2024

Likelihood Adaptively Incorporated External Aggregate Information With Uncertainty For Survival Data, Ziqi Chen, Yu Shen, Jing Qin, Jing Ning

Faculty, Staff and Student Publications

Population-based cancer registry databases are critical resources to bridge the information gap that results from a lack of sufficient statistical power from primary cohort data with small to moderate sample size. Although comprehensive data associated with tumor biomarkers often remain either unavailable or inconsistently measured in these registry databases, aggregate survival information sourced from these repositories has been well documented and publicly accessible. An appealing option is to integrate the aggregate survival information from the registry data with the primary cohort to enhance the evaluation of treatment impacts or prediction of survival outcomes across distinct tumor subtypes. Nevertheless, for rare …


The Biological Significance Of Tumor Grade, Age, Enhancement, And Extent Of Resection In Idh-Mutant Gliomas: How Should They Inform Treatment Decisions In The Era Of Idh Inhibitors?, Martin J Van Den Bent, Pim J French, Daniel Brat, Joerg C Tonn, Mehdi Touat, Benjamin M Ellingson, Robert J Young, Johan Pallud, Andreas Von Deimling, Felix Sahm, Dominique Figarella Branger, Raymond Y Huang, Michael Weller, Ingo K Mellinghoff, Tim F Cloughsey, Jason T Huse, Kenneth Aldape, Guido Reifenberger, Gilbert Youssef, Philipp Karschnia, Houtan Noushmehr, Katherine B Peters, Francois Ducray, Matthias Preusser, Patrick Y Wen Oct 2024

The Biological Significance Of Tumor Grade, Age, Enhancement, And Extent Of Resection In Idh-Mutant Gliomas: How Should They Inform Treatment Decisions In The Era Of Idh Inhibitors?, Martin J Van Den Bent, Pim J French, Daniel Brat, Joerg C Tonn, Mehdi Touat, Benjamin M Ellingson, Robert J Young, Johan Pallud, Andreas Von Deimling, Felix Sahm, Dominique Figarella Branger, Raymond Y Huang, Michael Weller, Ingo K Mellinghoff, Tim F Cloughsey, Jason T Huse, Kenneth Aldape, Guido Reifenberger, Gilbert Youssef, Philipp Karschnia, Houtan Noushmehr, Katherine B Peters, Francois Ducray, Matthias Preusser, Patrick Y Wen

Faculty, Staff and Student Publications

The 2016 and 2021 World Health Organization 2021 Classification of central nervous system tumors have resulted in a major improvement in the classification of isocitrate dehydrogenase (IDH)-mutant gliomas. With more effective treatments many patients experience prolonged survival. However, treatment guidelines are often still based on information from historical series comprising both patients with IDH wild-type and IDH-mutant tumors. They provide recommendations for radiotherapy and chemotherapy for so-called high-risk patients, usually based on residual tumor after surgery and age over 40. More up-to-date studies give a better insight into clinical, radiological, and molecular factors associated with the outcome of patients with …


The Cochlear Dose And The Age At Radiotherapy Predict Severe Hearing Loss After Passive Scattering Proton Therapy And Cisplatin In Children With Medulloblastoma, Mohammad H Abu-Arja, Austin L Brown, Jack M Su, M Fatih Okcu, Holly B Lindsay, Susan L Mcgovern, Mary Frances Mcaleer, David R Grosshans, Murali M Chintagumpala, Arnold C Paulino Oct 2024

The Cochlear Dose And The Age At Radiotherapy Predict Severe Hearing Loss After Passive Scattering Proton Therapy And Cisplatin In Children With Medulloblastoma, Mohammad H Abu-Arja, Austin L Brown, Jack M Su, M Fatih Okcu, Holly B Lindsay, Susan L Mcgovern, Mary Frances Mcaleer, David R Grosshans, Murali M Chintagumpala, Arnold C Paulino

Faculty, Staff and Student Publications

Background: Hearing loss (HL) is associated with worse neurocognitive outcomes among patients with medulloblastoma. We aimed to identify risk factors associated with severe HL and to evaluate the generalizability of a published HL calculator among patients treated with passive scattering proton therapy (PSPT) and cisplatin.

Methods: We identified patients aged 3-21 years who were treated at our centers between 2007 and 2022. Audiograms were graded using the International Society of Pediatric Oncology (SIOP) Boston scale. Time to grades 3-4 HL was evaluated using Kaplan-Meier and multivariable Cox models to estimate hazard ratios and 95% confidence intervals (CI).

Results: Seventy-nine patients …


Identification Of A Single-Dose, Low-Flip-Angle-Based Cbv Threshold For Fractional Tumor Burden Mapping In Recurrent Glioblastoma, Aliya Anil, Ashley M Stokes, John P Karis, Laura C Bell, Jennifer Eschbacher, Kristofer Jennings, Melissa A Prah, Leland S Hu, Jerrold L Boxerman, Kathleen M Schmainda, C Chad Quarles Oct 2024

Identification Of A Single-Dose, Low-Flip-Angle-Based Cbv Threshold For Fractional Tumor Burden Mapping In Recurrent Glioblastoma, Aliya Anil, Ashley M Stokes, John P Karis, Laura C Bell, Jennifer Eschbacher, Kristofer Jennings, Melissa A Prah, Leland S Hu, Jerrold L Boxerman, Kathleen M Schmainda, C Chad Quarles

Faculty, Staff and Student Publications

Background and purpose: DSC-MR imaging can be used to generate fractional tumor burden (FTB) maps via application of relative CBV thresholds to spatially differentiate glioblastoma recurrence from posttreatment radiation effects (PTRE). Image-localized histopathology was previously used to validate FTB maps derived from a reference DSC-MR imaging protocol by using preload, a moderate flip angle (MFA, 60°), and postprocessing leakage correction. Recently, a DSC-MR imaging protocol with a low flip angle (LFA, 30°) with no preload was shown to provide leakage-corrected relative CBV (rCBV) equivalent to the reference protocol. This study aimed to identify the rCBV thresholds for the LFA protocol …


How Do Parents Decide On Genetic Testing In Pediatrics? A Systematic Review, Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Matthew Lebo, Anna Nagy, Hana Zouk, Lisa Mahanta, Kurt D Christensen, Stacey Pereira, Nidhi D Shah, Nina B Gold, Sheyenne Walmsley, Sarita Edwards, Ramin Homayouni, Graham P Krasan, Hakon Hakonarson, Carol R Horowitz, Bruce D Gelb, Bruce R Korf, Amy L Mcguire, Ingrid A Holm, Robert C Green Oct 2024

How Do Parents Decide On Genetic Testing In Pediatrics? A Systematic Review, Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Matthew Lebo, Anna Nagy, Hana Zouk, Lisa Mahanta, Kurt D Christensen, Stacey Pereira, Nidhi D Shah, Nina B Gold, Sheyenne Walmsley, Sarita Edwards, Ramin Homayouni, Graham P Krasan, Hakon Hakonarson, Carol R Horowitz, Bruce D Gelb, Bruce R Korf, Amy L Mcguire, Ingrid A Holm, Robert C Green

Center for Medical Ethics and Health Policy Staff Publications

Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States. The trial aims for families who self-identify as Black/African American or Hispanic/Latino to make …


Semi-Supervised Machine Learning Method For Predicting Homogeneous Ancestry Groups To Assess Hardy-Weinberg Equilibrium In Diverse Whole-Genome Sequencing Studies, Derek Shyr, Rounak Dey, Xihao Li, Hufeng Zhou, Eric Boerwinkle, Steve Buyske, Mark Daly, Richard A Gibbs, Ira Hall, Tara Matise, Catherine Reeves, Nathan O Stitziel, Michael Zody, Benjamin M Neale, Xihong Lin Oct 2024

Semi-Supervised Machine Learning Method For Predicting Homogeneous Ancestry Groups To Assess Hardy-Weinberg Equilibrium In Diverse Whole-Genome Sequencing Studies, Derek Shyr, Rounak Dey, Xihao Li, Hufeng Zhou, Eric Boerwinkle, Steve Buyske, Mark Daly, Richard A Gibbs, Ira Hall, Tara Matise, Catherine Reeves, Nathan O Stitziel, Michael Zody, Benjamin M Neale, Xihong Lin

Faculty, Staff and Student Publications

Large-scale, multi-ethnic whole-genome sequencing (WGS) studies, such as the National Human Genome Research Institute Genome Sequencing Program's Centers for Common Disease Genomics (CCDG), play an important role in increasing diversity for genetic research. Before performing association analyses, assessing Hardy-Weinberg equilibrium (HWE) is a crucial step in quality control procedures to remove low quality variants and ensure valid downstream analyses. Diverse WGS studies contain ancestrally heterogeneous samples; however, commonly used HWE methods assume that the samples are homogeneous. Therefore, directly applying these to the whole dataset can yield statistically invalid results. To account for this heterogeneity, HWE can be tested on …


Penicillin Susceptibility Among Staphylococcus Aureus Skin And Soft Tissue Infections At A Children’S Hospital, J Chase Mcneil, Lauren M Sommer, Marritta Joseph, Kristina G Hulten, Sheldon L Kaplan Oct 2024

Penicillin Susceptibility Among Staphylococcus Aureus Skin And Soft Tissue Infections At A Children’S Hospital, J Chase Mcneil, Lauren M Sommer, Marritta Joseph, Kristina G Hulten, Sheldon L Kaplan

Faculty, Staff and Students Publications

Shortly after its introduction into clinical practice, Staphylococcus aureus isolates gained resistance to penicillin via the acquisition of β-lactamases. A number of centers have recently described an increase in the proportion of invasive methicillin-susceptible S. aureus (MSSA), which are also susceptible to penicillin (PSSA). Little data are available regarding the prevalence or impact of PSSA in skin and soft tissue infections (SSTI). Community-acquired MSSA SSTI isolates were obtained through a surveillance study at Texas Children’s Hospital from January 2017 to December 2021. A total of 200 random isolates underwent PCR for blaZ β-lactamase; blaZ-negative isolates then underwent penicillin susceptibility …