Digital Commons Network^™

Androgen Loss Accelerates Brain Tumour Growth Via Hpa Axis Activation, Juyeun Lee, Joshua B Rubin, Et Al.

2020-Current year OA Pubs

Many cancers, including glioblastoma (GBM), show a male-biased incidence and associated worse outcomes

Differences In Injury Rates By Competition Level Among Scholastic And Collegiate Female Lacrosse Athletes: A Systematic Review, Carrie J Froemming, Daniel C Touhey, Robert H Brophy, Derrick M Knapik

2020-Current year OA Pubs

BACKGROUND: Women's lacrosse is an increasingly popular sport. Current rules allow incidental body and stick-to-stick contact, with limited required protective equipment. Injuries to the head, face, and lower extremities are common, especially at higher levels of competition. Differences in injury rates and types based on competition level remain largely unknown.

PURPOSE: To systematically review the literature to better understand injury differences between scholastic and collegiate female lacrosse athletes.

STUDY DESIGN: Systematic review; Level of evidence, 4.

METHODS: Under PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-analyses), 543 studies were identified in September 2025 in PubMed, Scopus, Google Scholar, …

Single-Cell Spatiotemporal Dissection Of The Human Maternal-Fetal Interface, Cheng Wang, Sarah K England, David K Stevenson, Gary M Shaw, Et Al.

2020-Current year OA Pubs

The human maternal-fetal interface is characterized by mosaic intermingling of maternal and fetal cells

Synovial Fluid Biomarkers Associated With Anterior Cruciate Ligament Injury And Reconstruction: A Systematic Review, Daniel C Touhey, Derrick M Knapik, Sina Tartibi, Varun Gopinatth, Tanya Boghosian, Matthew J Matava, Matthew V Smith, Robert H Brophy

2020-Current year OA Pubs

BACKGROUND: Synovial fluid biomarkers reflect the inflammatory response after joint injury and surgery. Previous studies have identified synovial fluid biomarker concentrations in the knee after both anterior cruciate ligament (ACL) injury and ACL reconstruction (ACLR).

PURPOSE: To systematically review the literature to summarize reported changes in synovial fluid biomarkers and their concentrations after acute ACL injury/ACLR.

STUDY DESIGN: Systematic review; Level of evidence, 4.

METHODS: Studies published in the PubMed, EMBASE, and the Cochrane Library databases reporting in English on humans sustaining ACL tears and undergoing ACLR from inception to August 2025 were identified and included if postinjury/preoperative and/or postoperative …

Multicenter Comparison Of Modern Plating Options In Fibula, Scapula, And Osteocutaneous Radial Forearm Free Flaps, Craig A Bollig, Amit Walia, Patrik J Pipkorn, Ryan S Jackson, Sidharth V Puram, Jason T Rich, Randal C Paniello, Et Al.

2020-Current year OA Pubs

OBJECTIVES: Evaluate the association of plating strategies with hardware removal and operative time, after adjusting for relevant clinical variables.

STUDY DESIGN: Retrospective Review.

SETTING: Multiple Academic Medical Centers.

METHODS: Patients undergoing osseous free flap reconstruction stratified based on the plating strategy [conventional plating with a hand-bent plate, precontoured plate, and virtual surgical planning (VSP) with patient-specific hardware and cutting guides]. Variables associated with hardware removal were analyzed using multivariable logistic regression. To evaluate the effect of plating strategy on operative time, a multivariable linear regression model was created. Adjusted odds ratios (aOR) with 95% confidence intervals (CI) were calculated.

RESULTS: …

Adapt-On-Demand: Enabling Flexible And Scalable Adaptive Radiotherapy Through Workflow Automation, Sean Domal, Min Geon Choi, Justin Visak, Ruiqi Li, Taoran Li, Boon-Keng Kevin Teo, Xiaodong Zhao, Matthew Schmidt, Eric Laugeman, David Parsons, Yang Kyun Park, Shahed Badiyan, David Sher, Mu-Han Lin

2020-Current year OA Pubs

PURPOSE: CT-guided adaptive radiotherapy (CTgART) offers significant clinical benefits, but its utilization is often limited by resource demands and rigid workflows. This study presents a flexible and scalable "Adapt-on-Demand" (AOD) framework that integrates the adaptive capabilities of the Varian Ethos platform with the high-throughput IGRT delivery of the Varian Halcyon, supported by automated scripting.

METHODS: We developed an end-to-end dual-platform workflow that dynamically transitions between ART and IGRT delivery based on patient needs. Key components include Eclipse Scripting API (ESAPI) automation to streamline adapted plan ingestion from the Ethos Treatment Planning and Management System (TPMS) export directory, compatibility conversion for …

Preterm Birth Increases Susceptibility To Hyperglycemia-Induced Kidney Injury With Sex-Specific Differences In Structural And Molecular Responses, Rachel K Dailey, Aleksandra Cwiek, Logan C Hamil, Sage Timberline, Ayyappa Kumar Sista Kameshwar, Masako Suzuki, Jaya Isaac, Kimberly Deronde, Mark Conaway, Kevin M Bennett, Edwin J Baldelomar, Matthew R Hoch, Kimberly J Reidy, Jennifer R Charlton

2020-Current year OA Pubs

BACKGROUND: Preterm birth increases the long-term risk of diabetes and chronic kidney disease (CKD), yet its impact on diabetic kidney disease (DKD) is unclear. We previously showed that male preterm mice with diabetes develop early features of DKD, including reduced podocyte density, decreased renin expression, activation of angiogenesis pathways, and impaired endothelial-podocyte signaling. Here, we examine whether preterm birth similarly accelerates DKD progression in female mice and compare structural and transcriptomic outcomes in the females to the prior male cohort to assess sex-specific differences.

METHODS: Preterm mice were delivered by Caesarean section at 19 days post conception (dpc) and term …

A Prospective, Multi-Center, Observational Study Of The Safety, Tolerability And Effectiveness Of Nusinersen In Adult Patients With Spinal Muscular Atrophy, Craig M Zaidman, Crystal Proud, Bing Liao, Nassim Rad, Doreen Ho, Mary-Lynn Chu, Shafeeq Ladha, Thomas O Crawford, Shakti Nayar, Angela Genge, Margaret Frey, Chad Heatwole, Daphne Lew

2020-Current year OA Pubs

Nusinersen, an antisense oligonucleotide, modulates pre-mRNA splicing to produce full length survival motor neuron protein in spinal muscular atrophy (SMA). It was approved in the US for SMA in all ages based on evidence in children. In adults, studies of nusinersen rely on real-world observational data and show stability or small improvements over time. We performed a prospective, 30 month longitudinal, observational multi-center study of adults initiating nusinersen with SMA types II/III to examine its safety, tolerability, and effectiveness. 43 participants (20 female; 14 ambulatory; 3, 17, and 23 with 2, 3, and ≥4 SMN2 copies, respectively), mean (SD) age …

From Low Field To High Value: Robust Cortical Mapping From Low-Field Mri, Karthik Gopinath, Timothy Coalson, Matthew F Glasser, David Van Essen, Et Al.

2020-Current year OA Pubs

Three-dimensional reconstruction of cortical surfaces from MRI for subsequent morphometric analysis is fundamental for understanding brain structure. While high-field Magnetic Resonance Imaging (HF-MRI) is the standard in research and clinical settings, its relatively limited availability hinders widespread use. Low-field MRI (LF-MRI), particularly portable systems, offers a cost-effective and accessible alternative. However, existing cortical surface analysis tools, such as FreeSurfer, are optimized for high-resolution HF-MRI and struggle with the lower signal-to-noise ratio (SNR) and resolution of LF-MRI. In this work, we present a machine learning method for 3D reconstruction and analysis of portable LF-MRI scans over a range of contrasts and …

Spleen Volume Reduction And Transfusion Independence With Momelotinib Versus Ruxolitinib And Associated Overall Survival With Momelotinib In Jak Inhibitor-Naive Patients With Myelofibrosis And Anemia: Subgroup Analyses Of Simplify-1, Francesca Palandri, Stephen T Oh, Et Al.

2020-Current year OA Pubs

INTRODUCTION: Improvements in splenomegaly, anemia, and overall survival (OS) are key considerations in the management of patients with myelofibrosis. In the phase III SIMPLIFY-1 trial (NCT01969838), momelotinib was noninferior to ruxolitinib for spleen volume reduction ≥ 35% (SVR35) and nominally superior for transfusion independence (TI) at week 24 in Janus kinase (JAK) inhibitor-naive patients. However, the relative impact of these endpoints on OS in anemic patients has not been described.

MATERIALS AND METHODS: The present post hoc analysis evaluated week 24 SVR35, TI, and dual responses (SVR35 + TI) in patients with baseline hemoglobin < 10 g/dL.

RESULTS: SVR35 rates were similar overall …

Utility Of Routine Histopathologic And Culture Analysis In Wrist Tenosynovectomy, Andrew Straszewski, Stockton Troyer, Martin I Boyer, Charles A Goldfarb

2020-Current year OA Pubs

PURPOSE: Routine practices without a clear impact on patient care merit continuous reassessment. This retrospective study evaluated the value of routine histopathologic and culture analysis in patients who underwent flexor or extensor tendon tenosynovectomy.

METHODS: Current Procedural Terminology codes for isolated tenosynovectomy procedures were queried from an institutional database from 2018 to 2023, including all patients aged ≥18 treated by one of seven fellowship-trained hand surgeons. Demographics, past medical and surgical history, clinic notes, operative notes, imaging, pathology, and culture data were reviewed. We assessed for changes to the treatment course of each patient based on the pathology and culture …

Vustruct: A Compute Pipeline For High Throughput And Personalized Structural Biology, Christopher W. Moth, Jonathan H. Sheehan, Abdullah Al Mamun, R. Michael Sivley, Alican Gulsevin, David C. Rinker, Zenab F. Mchaourab, Undiagnosed Disease Network, John A. Capra, Jens Meiler

2020-Current year OA Pubs

Effective diagnosis and treatment of rare genetic disorders requires the interpretation of a patient's genetic variants of unknown significance (VUSs). Today, clinical decision-making is primarily guided by gene-phenotype association databases and DNA-based scoring methods. Our web-accessible variant analysis pipeline, VUStruct, supplements these established approaches by deeply analyzing the downstream molecular impact of variation in context of 3D protein structure. VUStruct's growing impact is fueled by the co-proliferation of protein 3D structural models, gene sequencing, compute power, and artificial intelligence. Contextualizing VUSs in protein 3D structural models also illuminates longitudinal genomics studies and biochemical bench research focused on VUS, and we …

Computational Fluid Dynamics-Based Risk Stratification Of Modified Blalock-Taussig-Thomas Shunt Thrombogenicity, Yi Qiao, Ethan Penn, Jacob Miller, Scott Bugenhagen, Ram Rohatgi, Kelsey Mercer, Blaire Kulp, Jinli Wang, Pirooz Eghtesady, Guy M Genin, Edon J Rabinowitz, David Bark

2020-Current year OA Pubs

BACKGROUND: The modified Blalock-Taussig-Thomas shunt (mBTTS) is a critical palliative procedure for infants with single-ventricle physiology, but thrombosis-related occlusion affects 8% to 12% of infants and carries nearly 50% mortality. Meanwhile, existing antithrombotic strategies fail to address the hemodynamic factors driving thrombosis, highlighting the need for a deeper understanding of flow dynamics in shunt failure.

OBJECTIVES: This study aims to identify how mBTTS geometry influences hemodynamics and thrombosis risk, providing quantitative guidance for surgical planning and shunt design optimization.

METHODS: We used patient-specific imaging data to test 54 idealized mBTTS configurations, systematically varying key geometric factors: pulmonary artery diameter, shunt …

Sustainment Of Hydroxyurea Adherence In Patients With Sickle Cell Disease, Andrew M Heitzer, Zachary Wooten, Guangjin Luo, Marsha Treadwell, Allison A King, Victor R Gordeuk, Nirmish Shah, Christina M Abrams, Sarah Mccuskee, Siera Gollan, Jennifer Longoria, Jane S Hankins, Sickle Cell Disease Implementation Consortium

2020-Current year OA Pubs

IMPORTANCE: Despite established treatment guidelines and strong therapeutic benefit, hydroxyurea remains underused among patients with sickle cell disease.

OBJECTIVE: To assess the change in self-reported hydroxyurea use (ie, taking the medication at all) and adherence (ie, the number of days taken per week) over time and to examine factors associated with the trajectory of hydroxyurea use and adherence.

DESIGN, SETTING, AND PARTICIPANTS: Data were collected through the Sickle Cell Disease Implementation Consortium, a longitudinal, multicenter, observational cohort study that recruited patients from 8 centers across the US. Data collection occurred from 2017 to 2022, and analyses were performed from January …

Cognitive Behavioral Therapy For Individuals With Low Literacy And Perinatal Depression: A Randomized Clinical Trial, Eliza Kleban, Ashleen Lee, Aminata Koroma, D Taylor Hendrixson, Joshua Duncan, Mark J Manary, Kevin B Stephenson

2020-Current year OA Pubs

IMPORTANCE: Perinatal depression is common in sub-Saharan Africa, yet treatment gaps are substantial. Cognitive behavioral therapy (CBT) is effective but relies on written materials.

OBJECTIVE: To evaluate the efficacy of a culturally adapted CBT intervention delivered by lay counselors to women with perinatal depression in rural Sierra Leone.

DESIGN, SETTING, AND PARTICIPANTS: This study was an individually randomized, outcomes assessor- and investigator-blinded, clinical trial of an adapted CBT intervention vs enhanced usual care. The trial was conducted in 6 government-run antenatal clinics in Pujehun District, Sierra Leone, which has limited infrastructure, low literacy, high maternal undernutrition, and no perinatal mental …

Advancing Peripheral Nerve Regeneration (Nerve Space 2025), Ken Porche, Tara Sara Saffari, Hollie Power, Wesley P Thayer, S Shelby Burks, John C Elfar, Alexander Y Shin, David M Brogan

2020-Current year OA Pubs

UNLABELLED: Peripheral nerve injuries remain a major clinical challenge due to slow axonal regeneration, rapid Wallerian degeneration (WD), and degeneration of target organs prior to reinnervation.

WHERE ARE WE NOW?: Strategies to enhance regeneration can be broadly divided into three categories: preventing or delaying WD, speeding up axonal regeneration, and improving the molecular environment at the injury site. Approaches to delay WD include polyethylene glycol-mediated axonal fusion, which may restore early axonal continuity and conduction, and inhibition of sterile alpha and TIR motif-containing 1, the central executioner of WD, with small-molecule inhibitors now in clinical trials. Methods to accelerate axon …

Use And Public Reporting Of Predetermined Change Control Plans For Ai-Enabled Medical Devices, Patryk A Dabek, Florence T Bourgeois, Ariel D Stern, Yi Zhu, Alexander O Everhart

2020-Current year OA Pubs

No abstract provided.

Clustering Digestive Tract Tumors Using Transcriptomic And Mutation Data, Dwayne G Tally, Polina Bombina, Jake Reed, Jeffrey Kinne, Lynne V Abruzzo, Kevin R Coombes, Zachary B Abrams

2020-Current year OA Pubs

BACKGROUND: Digestive tract cancers, like most other cancers, are usually categorized based on cell or tissue of origin. Molecular clustering based on the transcriptome often produces the same classification.

METHODS: We developed a new method, Newmanization, to reduce underlying tissue signals from transcriptomic analysis. To test our method, we downloaded data on 1635 samples of digestive tract cancers from The Cancer Genome Atlas. The available data includes transcriptomic data by RNA-Seq, as well as binary mutation allele frequency data by whole exome sequencing. We compared, using silhouette widths and visualization by dimension reduction plots, the effectiveness of Newmanized transcriptome and …

High Concordance Of Physician-Attestation With Manual Data Abstraction For Sickle Cell Type: An Ash Rc Data Hub Study, Alexis A Thompson, Ashima Singh, Donna S Neuberg, Amanda M Brandow, Allison A King, Sophie Lanzkron, Emily A Semmel, Sam Walters, Susan Rogers, Kathleen Torres, William A Wood

2020-Current year OA Pubs

Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. The American Society of Hematology Research Collaborative (ASH RC) has built an SCD Data Hub (DH) to facilitate research and quality improvement using real-world data. To our knowledge, we report here the first analyses from the DH, focusing on cohort demographics and accurate identification of SCD diagnosis type. DH sites have data use agreements with ASH RC to extract and transfer electronic health record (EHR) data at least quarterly. Principal investigators (PI) provided additional attestation of SCD diagnosis based on existing local data sources deemed …

Familial Healthy Aging And Longevity: The Role Of Spouses, Søren Netra, Angéline Galvin, Matthew Keys, Katrine Lawaetz Kristensen, Jacob Krabbe Pedersen, Bharat Thyagarajan, Svetlana Ukraintseva, Mary K Wojczynski, Dorret I Boomsma, Kaare Christensen

2020-Current year OA Pubs

BACKGROUND: Families with exceptional longevity often experience delayed onset of age-related diseases and reduced mortality across generations-a pattern influenced by shared genetic and behavioral factors. While several studies have focused on the members of longevity-enriched families (LEF), little is known about the health trajectories of the spouses marrying into these families. Given prior evidence of substantially reduced mortality among spouses of LEF members, determining whether this advantage reflects selection, shared environments, or behavioral convergence is essential for understanding the mechanisms that underlie intergenerational health transmission.

METHODS: We conducted a multigenerational, retrospective matched cohort study using nationwide Danish civil and health …

A Novel Approach To Defining Progression In Mds And Precursor Myeloid Conditions In The Mds Natural History Study, Amy E Dezern, Matthew Walter, Et Al.

2020-Current year OA Pubs

Patients at risk for progression from myeloid precursor states (idiopathic cytopenia of undetermined significance [ICUS] and clonal cytopenia of undetermined significance [CCUS]) to myelodysplastic syndrome (MDS) are not well defined. Epidemiologic risk factors, clonal changes for MDS development, and evolution from one MDS state to another were available in the MDS Natural History Study (NHS), a prospective cohort enrolled at diverse US sites. Extensive clinical data and biospecimens were collected at baseline and follow-up. A total of 1177 (56%) individuals with MDS or MDS-related precursor conditions (ICUS/idiopathic dysplasia of undetermined significance [IDUS], CCUS, and MDS/myeloproliferative neoplasm overlap) were enrolled and …

How Survivors Of Exploitation Who Use Drugs Navigate Systems Of Care: An Analysis Of Survivor Insights Using The Intersectional Risk Environment, Theresa Anasti, Hilary Thibodeau, Nathaniel A Dell, Kathleen Preble, Lauren Grimes, Lindsay B Gezinski

2020-Current year OA Pubs

BACKGROUND: Drug-related risks such as adverse health outcomes, overdose, and violent victimization vary across populations due to the marginalization of identities, structural inequities, and differing environments. Discrimination and criminalization exacerbate drug-related risks specifically for survivors of sexual exploitation who use drugs. This study aims to understand how survivors who are not currently utilizing intensive treatment services perceive their risk environment, including available resources, and identify possible mechanisms to address health equity. Emphasizing the role of harm reduction and the expertise of lived experience, this paper encourages innovative approaches to supporting survivors.

METHODS: A research team conducted seventeen semi-structured interviews with …

B Cell Expression Of An Enzymatic Intermediary In Ether Lipid Biosynthesis Promotes Antibody Responses And Germinal Center Size, Sung Hoon Cho, Marissa A Jones, Kaylor Meyer, David M Anderson, Sergiy Chetyrkin, M Wade Calcutt, Richard M Caprioli, Clay F Semenkovich, Mark R Boothby

2020-Current year OA Pubs

The qualities of antibody (Ab) responses provided by B lymphocytes and their plasma cell (PC) descendants are crucial facets of responses to vaccines and microbes. Metabolic processes and products regulate aspects of B cell proliferation and differentiation into germinal center (GC) and PC states along with Ab diversification. However, there is little information about lymphoid-cell-intrinsic functions of enzymes that mediate ether lipid biosynthesis. Imaging mass spectrometry (IMS) results had indicated that concentrations of a number of these phospholipids were substantially enhanced in GC compared to the background average in spleens, but it was unclear if biosynthesis in B cells was …

The Polymerized Protein Response (Ppr) Is Activated By Genetic Variants That Polymerize In The Er And Is Mediated By Nfκbp50, Admire Munanairi, David A Rudnick, Jiansheng Huang, David H Perlmutter

2020-Current year OA Pubs

In previous studies we have shown that accumulation of the polymerogenic variant ATZ that causes α1-antitrypsin deficiency (ATD) activates NFκB DNA binding. Here we discovered that this response, which we are naming the polymerized protein response (PPR), is characterized by NFκB p50 homodimers, distinct from the p50/p65 heterodimers in the canonical NFκB inflammatory response and the unfolded protein response (UPR). The PPR is also activated by other disease associated variants that polymerize in the ER whereas disease-associated variants that do not form polymers activate p50/p65 heterodimers and UPR. The PPR elicits a unique gene expression profile, including changes that stabilize …

Sex-Aware Genome-Wide Assessment Of De Novo Variants In Autism Across Coding And Noncoding Regions, Tychele N Turner

2020-Current year OA Pubs

BACKGROUND: Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs in > 41,000 parent–child sequenced trios from three ASD family-based cohorts and compared DNV characteristics and enrichment patterns in males and females. Notably, these trios included individuals with ASD as well as those without ASD. I developed a new sex-aware DNV caller (HAT-FLEX) and thoroughly evaluated each candidate DNV using an additional tool introduced in this study, SNOW, to generate a high-confidence callset. RESULTS: I identified enrichment of missense and loss-of-function (LOF) …

Pediatric Thyroid Cancer Lung Metastases And Rai: Long-Term Results, Ryan C Mueller, Nikhil Rammohan, Anthony J Apicelli, Ana Maria Arbelaez, Farrokh Dehdashti, Barry A Siegel, Vikas Prasad, Perry W Grigsby, Stephanie Markovina

2020-Current year OA Pubs

OBJECTIVES: Children with differentiated thyroid cancer (DTC) often present with lung metastases but historically have good outcomes. Radioactive iodine (RAI) is commonly used to treat these children. Given the rarity of this condition, little evidence detailing long-term outcomes and risk of radiation pneumonitis exists.

METHODS: We conducted a retrospective analysis of patients < 20 years old who received RAI for DTC lung metastases between 1973 and 2018. Disease-free survival (DFS) was calculated from diagnosis to last follow-up. Overall survival and rates of acute and late radiation pneumonitis were determined by chart review and obituary searches.

RESULTS: Sixteen patients met eligibility criteria. Fourteen presented with thyroid, nodal, and lung disease; one presented with thyroid and nodal disease with nodal and lung recurrence; and one presented with thyroid-only disease with nodal and lung recurrence. All patients underwent thyroidectomy, 10 underwent neck dissection, and four underwent …

Dual Membrane-Spanning Anti-Sigma 2 Controls Omv Biogenesis And Colonization Fitness In Bacteroides Thetaiotaomicron, Evan J Pardue, Tengfei Zhong, Nichollas E Scott, Biswanath Jana, Wandy Beatty, Juan C Ortiz-Marquez, Mohammed Kaplan, Clay Jackson-Litteken, Mario F Feldman

2020-Current year OA Pubs

UNLABELLED:

IMPORTANCE: Dual membrane-spanning anti-sigma factors (Dma) are a novel class of regulatory proteins found solely among Bacteroidota. Previous studies demonstrated the importance of Dma1 in vesiculation, but the overall role of the Dma family in Bacteroides physiology remains poorly understood. Here, we show that Dma2 modulates vesiculation and the expression of select polysaccharide utilization loci (PULs) that target host-associated glycans

Delivering Safe Sleep And Breastfeeding Education To Pregnant And New Mothers Through Private Facebook Groups: Study Protocol For A 4-Armed Randomized Controlled Trial, Rebecca F Carlin, Margaret G Parker, Ann L Kellams, Fern R Hauck, Stephen Kerr, Benjamin T Cornwell, Marc T Kiviniemi, Nicole Geller, Katherine E Boguszewski, Michael J Corwin, Eve R Colson, Rachel Y Moon

2020-Current year OA Pubs

BACKGROUND: Annually, more than 3500 US infants die suddenly and unexpectedly. Many sudden unexpected infant deaths (SUID) are preventable with greater adherence to safe infant sleep guidelines. There are racial and economic disparities in guideline adherence and SUID rates. Education alone has proven ineffective at altering behavior for many parents, and social networks and social norms regarding infant care have been found to influence rates of unsafe sleep. Using the power of social networks to shape social norms by delivering education through moderated online social media groups provides a unique opportunity to influence these practices in large groups of parents. …

Enhancing Inference Of Differential Gene Expression In Metatranscriptomes From Human Microbial Communities, Evan M Lee, Nathan P Mcnulty, Matthew C Hibberd, Jiye Cheng, Kazi Ahsan, Hao-Wei Chang, Barak A Cohen, Jeffrey I Gordon

2020-Current year OA Pubs

Metatranscriptomic (MTX) sequencing quantifies gene expression from the collective genomes of microbial communities (microbiomes), enabling assessment of functional activity rather than functional potential. While differential expression testing is essential for RNA-sequencing analysis, current metatranscriptomic approaches have only been benchmarked on simulated data, resulting in a lack of standard practices for analysis of real datasets. Here, we use mock communities (defined mixtures of microbial cells with known properties) to quantitatively assess robustness and susceptibility of current approaches to various confounders including organisms' low relative abundance, differential abundance, low prevalence, global transcriptional output changes, and compositional effects. We show that no current …

Natural History Of 15 Patients With Autosomal Dominant Wfs1 Pathogenic Variants Associated With Sensorineural Hearing Loss And Optic Atrophy, Jessica P Roberts, Abby F Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano

2020-Current year OA Pubs

OBJECTIVE: Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, non-syndromic diabetes mellitus, and early-onset cataracts. These conditions are generally milder than autosomal recessive Wolfram syndrome, except for Hattersley-Urano syndrome. Despite growing recognition of these disorders, data on clinical progression and long-term outcomes remain limited. This study aims to expand knowledge on disease severity and progression in autosomal dominant WFS1-related disorders. APPROACH: Clinical data were obtained from the Washington University International Registry and Clinical Study for Wolfram Syndrome and …