Medicine and Health Sciences Commons^™

Concordance Between Antibiotic Resistance Genes By Multiplex Polymerase Chain Reaction And Antibiotic Susceptibility By Pooled Antibiotic Sensitivity Testing In Symptomatic Patients With Urinary Tract Infection, Annah Vollstedt, Dakun Wang, Natalie Luke, David Baunoch, Kirk J. Wojno, Howard Korman, Natalie Gaines, Shuguang Huang, S Mohammad Jafri, David Wenzler, Patrick Cacdac, Frank Burks, Larry Sirls

Conference Presentation Abstracts

Introduction: Studies have shown many genes influence antibiotic resistance, and the relationship between genotypic and phenotypic antibiotic resistance is unclear. We sought to analyze the concordance between the presence of antibiotic resistance (ABR) genes and antibiotic susceptibility results. Methods: Urine samples were collected from patients presenting with possible UTI to 37 Urology clinics from July 2018 to February 2019. Multiplex polymerase chain reaction (M-PCR) was used to test for 33 ABR genes. Pooled Antibiotic Susceptibility Testing (P-AST) was performed against 14 different antibiotics. The concordance rate between the ABR genes and P-AST results was generated. The concordance rates for each …

Whole Genome Sequence Analysis Of Platelet Traits In The Nhlbi Trans-Omics For Precision Medicine Initiative, Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai G. Broome, Ming-Huei Chen, Florian Thibord, Caitlin Mchugh, John Blangero, Joanne E. Curran

School of Medicine Publications and Presentations

Platelets play a key role in thrombosis and hemostasis. Platelet count (PLT) and mean platelet volume (MPV) are highly heritable quantitative traits, with hundreds of genetic signals previously identified, mostly in European ancestry populations. We here utilize whole genome sequencing from NHLBI's Trans-Omics for Precision Medicine Initiative (TOPMed) in a large multi-ethnic sample to further explore common and rare variation contributing to PLT (n = 61 200) and MPV (n = 23 485). We identified and replicated secondary signals at MPL (rs532784633) and PECAM1 (rs73345162), both more common in African ancestry populations. We also observed rare variation in Mendelian platelet …

Defining The Genotypic And Phenotypic Spectrum Of X-Linked Msl3-Related Disorder, Theresa Brunet, Kirsty Mcwalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P Bupp, Bert L Callewaert, Anna Cereda, Margot A Cousin, Juan C Del Rey Jimenez, Laurie Demmer, Nikita R Dsouza, Nicole Fleischer, Ralitza H Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W Klee, Emily Lancaster, Kristin Lindstrom, Johannes A Mayr, Meriel Mcentagart, Naomi J L Meeks, Dana Mittag, Harrison Moore, Anne K Olsen, Damara Ortiz, Gretchen Parsons, Loren D M Pena, Richard E Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J Guillen Sacoto, G Bradley Schaefer, Rhonda E Schnur, Tiana M Scott, Daryl A Scott, Carolyn R Serbinski, Vandana Shashi, Victoria Mok Siu, Barbro Fossøy Stadheim, Jennifer A Sullivan, Jana Švantnerová, Lea Velsher, David S Wargowski, Ingrid M Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner

Paediatrics Publications

PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of …

Concordance Between Antibiotic Resistance Genes By Multiplex Polymerase Chain Reaction And Antibiotic Susceptibility By Pooled Antibiotic Sensitivity Testing In Symptomatic Patients With Urinary Tract Infection, Annah Vollstedt, Dakun Wang, Natalie Luke, David Baunoch, Kirk J. Wojno, Kevin Cline, Natalie Gaines, Howard Korman, S Mohammad Jafri, David Wenzler, Frank Burks, Larry Sirls

Conference Presentation Abstracts

Introduction: Studies have shown many genes influence antibiotic resistance, and the relationship between genotypic and phenotypic antibiotic resistance is unclear. We sought to analyze the concordance between the presence of antibiotic resistance (ABR) genes and antibiotic susceptibility results in urine samples collected from symptomatic UTI patients. Methods: Urine samples were collected from patients presenting with possible UTI to 37 geographically disparate Urology clinics from July 2018 to February 2019. Multiplex polymerase chain reaction (M-PCR) was used to test for 33 different ABR genes. Samples in which at least one organism was identified at a quantity of ≥104 cells per mL, …

Concordance Between Antibiotic Resistance Genes By Multiplex Polymerase Chain Reaction And Antibiotic Susceptibility By Pooled Antibiotic Sensitivity Testing In Symptomatic Patients With Urinary Tract Infection, Annah Vollstedt, Dakun Wang, Natalie Luke, David Baunoch, Kirk J Wojno, Kevin Cline, Natalie Gaines, Howard Korman, S Mohammad Jafri, David Wenzler, Frank Burks, Larry Sirls

Conference Presentation Abstracts

Introduction: Studies have shown many genes influence antibiotic resistance, and the relationship between genotypic and phenotypic antibiotic resistance is unclear. We sought to analyze the concordance between the presence of antibiotic resistance (ABR) genes and antibiotic susceptibility results in urine samples collected from symptomatic UTI patients. Methods: Urine samples were collected from patients presenting with possible UTI to 37 geographically disparate Urology clinics from July 2018 to February 2019. Multiplex polymerase chain reaction (M-PCR) was used to test for 33 different ABR genes. Samples in which at least one organism was identified at a quantity of ≥104 cells per mL, …

Predicting Associations Of Mirnas And Candidate Gastric Cancer Genes For Nanomedicine, Aigul Akimniyazova, Anna Pyrkova, Vladimir N. Uversky, Anatoliy Ivashchenko

Molecular Medicine Faculty Publications

Nanoscale miRNAs regulate the synthesis of most human proteins involved in differentiation, proliferation, cell cycle, apoptosis, and other processes associated with the growth and the development of an organism. miRNAs also play a number of important roles in the development of gastric cancer. In this work, we studied the quantitative characteristics of miRNA interactions with 69 candidate gastric cancer genes using bioinformatics approaches. To this end, the MirTarget program was used, which determines the characteristics of miRNA binding to mRNA in the 5′UTR, CDS, and 3′UTR. Associations of miRNAs with alternative target genes and associations of genes with alternative miRNAs …

Association Of Genetic Variances In Adrb1 And Ppargc1a With Two-Kilometre Running Time-Trial Performance In Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Nicolas H. Hart

Research outputs 2014 to 2021

Abstract: Genetic variants in the angiotensin-converting enzyme (ACE) (rs4343), alpha-actinin-3 (ACTN3) (rs1815739), adrenoceptor-beta-1 (ADRB1) (rs1801253), and peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PPARGC1A) (rs8192678) genes have previously been associated with elite athletic performance. This study assessed the influence of polymorphisms in these candidate genes towards endurance test performance in 46 players from a single Australian Football League (AFL) team. Each player provided saliva buccal swab samples for DNA analysis and genotyping and were required to perform two independent two-kilometre running time-trials, six weeks apart. Linear mixed models were created to account for repeated measures over time and to determine whether …