Medicine and Health Sciences Commons^™

Myt1l Deficiency Impairs Excitatory Neuron Trajectory During Cortical Development, Allen Yen, Simona Sarafinovska, Xuhua Chen, Dominic D Skinner, Fatjon Leti, Marialynn Crosby, Jessica Hoisington-Lopez, Yizhe Wu, Jiayang Chen, Zipeng A Li, Kevin K Noguchi, Robi D Mitra, Joseph D Dougherty

2020-Current year OA Pubs

Mutations reducing the function of MYT1L, a neuron-specific transcription factor, are associated with a syndromic neurodevelopmental disorder. MYT1L is used as a pro-neural factor in fibroblast-to-neuron transdifferentiation and is hypothesized to influence neuronal specification and maturation, but it is not clear which neuron types are most impacted by MYT1L loss. In this study, we profile 412,132 nuclei from the forebrains of wild-type and MYT1L-deficient mice at three developmental stages: E14 at the peak of neurogenesis, P1 when cortical neurons have been born, and P21 when neurons are maturing, to examine the role of MYT1L levels on neuronal development. MYT1L deficiency …

Creating A Sense Of Place When Implementing A New Emergency Department In Denmark: A Qualitative Study, Jeanette Wassar Kirk, Per Nilsen, Ove Andersen, Nina Thórný Stefánsdóttir, Mette Bendtz Lindstrøm, Byron J Powell, Tine Tjørnhøj-Thomsen

2020-Current year OA Pubs

BACKGROUND: Physical locations play an essential yet often overlooked role in healthcare implementation processes. Implementation Science frameworks such as the Theoretical Domains Framework, the Consolidated Framework for Implementation Research, and the Implementation in Context framework acknowledge the importance of the physical environment, but they often treat it as a passive backdrop for change. However, from a cultural geographic perspective, spaces and places are dynamic, influencing behavior, social structures, and the acceptance of new practices. This study aims to explore how managers and emloyees develop a sense of place in a new emergency department (ED) and how these spatial dynamics influence …

Protective Effect And Molecular Mechanisms Of Human Non-Neutralizing Cross-Reactive Spike Antibodies Elicited By Sars-Cov-2 Mrna Vaccination, Jordan J Clark, Ali H Ellebedy, Et Al.

2020-Current year OA Pubs

Neutralizing antibodies correlate with protection against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Recent studies, however, show that binding antibody titers, in the absence of robust neutralizing activity, also correlate with protection against disease progression. Non-neutralizing antibodies cannot directly protect against infection but may recruit effector cells and thus contribute to the clearance of infected cells. Additionally, they often bind conserved epitopes across multiple variants. Here, we characterize 42 human monoclonal antibodies (mAbs) from coronavirus disease 2019 (COVID-19)-vaccinated individuals. Most of these antibodies exhibit no neutralizing activity in vitro, but several non-neutralizing antibodies provide protection against lethal challenge with SARS-CoV-2 …

Comparing Neoantigen Cancer Vaccines And Immune Checkpoint Therapy Unveils An Effective Vaccine And Anti-Trem2 Macrophage-Targeting Dual Therapy, Sunita Keshari, Martina Molgora, Marco Colonna, Et Al.

2020-Current year OA Pubs

The goal of therapeutic cancer vaccines and immune checkpoint therapy (ICT) is to promote T cells with anti-tumor capabilities. Here, we compared mutant neoantigen (neoAg) peptide-based vaccines with ICT in preclinical models. NeoAg vaccines induce the most robust expansion of proliferating and stem-like PD-1

Rsk1 Dependency In Flt3-Itd Acute Myeloid Leukemia, Tim Kong, Angelo B A Laranjeira, Christopher T Letson, Layow Yu, Fan He, Aarthi Jayanthan, Gerrit Los, Sandra E Dunn, Grant A Challen, Stephen T Oh

2020-Current year OA Pubs

Internal tandem duplications (ITD) in fms-like tyrosine kinase 3 (FLT3) represent the most common genetic alteration in de novo acute myeloid leukemia (AML). Here, we identify ribosomal protein s6 kinase a1 (RSK1) as a core dependency in FLT3-ITD AML and unveil the existence of crucial bi-directional regulation. RSK1 perturbation resulted in marked apoptosis and abrogated phosphorylation of FLT3 and associated downstream signaling cascades in FLT3-ITD AML cell lines. Using cycloheximide, MG-132, and ubiquitination assays, we further demonstrate mechanistically that RSK1 regulates FLT3-ITD activity, and protein stability through deubiqutinase USP1, which we identify as a second dependency. Importantly, multivariate analysis revealed …

Spatial, Transcriptomic, And Epigenomic Analyses Link Dorsal Horn Neurons To Chronic Pain Genetic Predisposition, Cynthia M Arokiaraj, Alexander Chamessian, Et Al.

2020-Current year OA Pubs

Key mechanisms underlying chronic pain occur within the dorsal horn. Genome-wide association studies (GWASs) have identified genetic variants predisposed to chronic pain. However, most of these variants lie within regulatory non-coding regions that have not been linked to spinal cord biology. Here, we take a multi-species approach to determine whether chronic pain variants impact the regulatory genomics of dorsal horn neurons. First, we generate a large rhesus macaque single-nucleus RNA sequencing (snRNA-seq) atlas and integrate it with available human and mouse datasets to produce a single unified, species-conserved atlas of neuron subtypes. Cellular-resolution spatial transcriptomics in mouse shows the precise …

Lymphocytic Choriomeningitis Arenavirus Utilises Intercellular Connections For Cell To Cell Spread, Owen Byford, Amelia B Shaw, Hiu Nam Tse, Alex Moon-Walker, Erica Ollmann Saphire, Sean P J Whelan, Martin Stacey, Roger Hewson, Juan Fontana, John N Barr

2020-Current year OA Pubs

The Arenaviridae family of segmented RNA viruses contains nearly 70 species with several associated with fatal haemorrhagic fevers, including Lassa, Lujo and Junin viruses. Lymphocytic choriomeningitis arenavirus (LCMV) is associated with fatal neurologic disease in humans and additionally represents a tractable model for studying arenavirus biology. Within cultured cells, a high proportion of LCMV spread is between directly neighbouring cells, suggesting infectivity may pass through intercellular connections, bypassing the canonical extracellular route involving egress from the plasma membrane. Consistent with this, we visualized abundant actin- and tubulin-rich connections conjoining LCMV-infected and uninfected cells within cultures, resembling tunnelling nanotubes (TNTs). Within …

Sertraline Modulates Hippocampal Plasticity Via Sigma 1 Receptors, Cellular Stress And Neurosteroids, Yukitoshi Izumi, Angela M Reiersen, Eric J Lenze, Steven J Mennerick, Charles F Zorumski

2020-Current year OA Pubs

In addition to modulating serotonin transport, selective serotonin reuptake inhibitors (SSRIs) have multiple other mechanisms that may contribute to clinical effects, and some of these latter actions prompt repurposing of SSRIs for non-psychiatric indications. In a recent study of the SSRIs fluvoxamine, fluoxetine and sertraline we found that, unlike the other two SSRIs, sertraline acutely inhibited LTP at a low micromolar concentration through inverse agonism of sigma 1 receptors (S1Rs). In the present studies, we pursued mechanisms contributing to sertraline modulation of LTP in rat hippocampal slices. We found that sertraline partially inhibits synaptic responses mediated by N-methyl-D-aspartate receptors (NMDARs) …

Does Muscle Pain Induce Alterations In The Pelvic Floor Motor Unit Activity Properties In Interstitial Cystitis/Bladder Pain Syndrome? A High-Density Semg-Based Study, Monica Albaladejo-Belmonte, Michael Houston, Nicholas Dias, Theresa Spitznagle, Henry Lai, Yingchun Zhang, Javier Garcia-Casado

2020-Current year OA Pubs

Several studies have shown interstitial cystitis/bladder pain syndrome (IC/BPS), a chronic condition that poses challenges in both diagnosis and treatment, is associated with painful pelvic floor muscles (PFM) and altered neural drive to these muscles. However, its pathophysiology could also involve other alterations in the electrical activity of PFM motor units (MUs). Studying these alterations could provide novel insights into IC/BPS and help its clinical management. This study aimed to characterize PFM activity at the MU level in women with IC/BPS and pelvic floor myalgia using high-density surface electromyography (HD-sEMG). Signals were recorded from 15 patients and 15 healthy controls …

Mode Of Injury And Level Of Synovitis Alter Inflammatory Chondrocyte Gene Expression And Associated Pathways, Megan L Libke, Daniel J Cunningham, Bridgette D Furman, John S Yi, Jonathan M Brunger, Virginia B Kraus, Farshid Guilak, Amy L Mcnulty, Steven A Olson

2020-Current year OA Pubs

Although various joint injuries result in post-traumatic osteoarthritis (PTOA), differences in chondrocyte response to specific injuries, such as blunt compression or fracture, are unclear. Furthermore, the role of underlying joint inflammation, or synovitis, is often not considered. We investigated how injury mechanisms and underlying synovitis affect chondrocyte gene expression using osteochondral injury models with synovial co-culture. We hypothesized that the state of synovitis as well as the mechanism of biomechanical cartilage injury differentially alter the gene expression of chondrocytes and that these responses are regulated by the pro-inflammatory cytokine interleukin 1 (IL-1). The mechanism of injury and level of synovial …

Qualitative Assessment Of Proposed Visual Key Information Pages For Informed Consent, Krista E. Cooksey, Eliana Goldstein, Clara Lee, Jessica Mozersky, Kimberly A. Kaphingst, Victor Catalan Gallegos, Mary C. Politi

2020-Current year OA Pubs

No abstract provided.

Samd7 Represses Short-Wavelength Cone Genes To Preserve Long-Wavelength Cone And Rod Photoreceptor Identity, Leo I Volkov, Yohey Ogawa, Ramiz Somjee, Hannah E Vedder, Hannah E Powell, Deepak Poria, Sam Meiselman, Vladimir J Kefalov, Joseph C Corbo

2020-Current year OA Pubs

The role of transcription factors in photoreceptor gene regulation is fairly well understood, but knowledge of the cell-type-specific function of transcriptional cofactors remains incomplete. Here, we show that the transcriptional corepressor

Disordered Proteins Interact With The Chemical Environment To Tune Their Protective Function During Drying, Shraddha Kc, Kenny H Nguyen, Vincent Nicholson, Annie Walgren, Tony Trent, Edith Gollub, Paulette Sofia Romero-Perez, Alex S Holehouse, Shahar Sukenik, Thomas C Boothby

2020-Current year OA Pubs

The conformational ensemble and function of intrinsically disordered proteins (IDPs) are sensitive to their solution environment. The inherent malleability of disordered proteins, combined with the exposure of their residues, accounts for this sensitivity. One context in which IDPs play important roles that are concomitant with massive changes to the intracellular environment is during desiccation (extreme drying). The ability of organisms to survive desiccation has long been linked to the accumulation of high levels of cosolutes such as trehalose or sucrose as well as the enrichment of IDPs, such as late embryogenesis abundant (LEA) proteins or cytoplasmic abundant heat-soluble (CAHS) proteins. …

Consensus Definition Of A Radiologically Healed Fistula On Magnetic Resonance Imaging In Perianal Crohn's Disease: An International Delphi Study, Easan Anand, Jalpa Devi, Shivani Joshi, Anna Antoniou, Michelle Doering, Jaap Stoker, Phillip Lung, Ailsa L Hart, David H Ballard, Parakkal Deepak, Phil Tozer

2020-Current year OA Pubs

INTRODUCTION: Perianal fistulising Crohn's disease (pfCD) is a distinct and debilitating phenotype seen in around one-third of patients with CD. Clinical trials in pfCD are increasingly using magnetic resonance imaging (MRI) criteria as a primary endpoint, but there is heterogeneity in the radiological definition of a healed perianal fistula that currently limits our ability to perform meaningful meta-analyses of studies. Our aim is to standardise outcomes through the generation of an international consensus definition of a radiologically healed fistula.

METHODS AND ANALYSIS: This international Delphi consensus study employs a two-part strategy.The first is a systematic review to identify a longlist …

Circulating Blood Circular Rna In Parkinson's Disease; From Involvement In Pathology To Diagnostic Tools In At-Risk Individuals, Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Ravindra Kumar, Jose Adrian Pardo, Gauri Darekar, Jessie Sanford, Devin Dikec, Bridget Phillips, Juan A Botia, Carlos Cruchaga, Laura Ibanez

2020-Current year OA Pubs

To identify circRNAs associated with Parkinson's disease (PD) we leveraged two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. We performed a cross-sectional study utilizing the last visit of each participant (N = 1848), and a longitudinal analysis that included 1166 participants with at least two time points. We identified 192 differentially expressed circRNAs, with effects that were sustained during disease, in mutation carriers, and diverse ancestry. The 192 circRNAs were leveraged to distinguish between PD and healthy participants with a ROC AUC of 0.797. Further, 71 circRNAs were sufficient to distinguish between genetic PD …

Comparative Neurofilament Light Chain Trajectories In Csf And Plasma In Autosomal Dominant Alzheimer's Disease, Anna Hofmann, Jorge J Llibre-Guerra, Richard J Perrin, Laura Ibanez, Randall J Bateman, Eric Mcdade, Brian A Gordon, Et Al.

2020-Current year OA Pubs

Disease-modifying therapies for Alzheimer's disease (AD) are likely to be most beneficial when initiated in the presymptomatic phase. To track the benefit of such interventions, fluid biomarkers are of great importance, with neurofilament light chain protein (NfL) showing promise for monitoring neurodegeneration and predicting cognitive outcomes. Here, we update and complement previous findings from the Dominantly Inherited Alzheimer Network Observational Study by using matched cross-sectional and longitudinal cerebrospinal fluid (CSF) and plasma samples from 567 individuals, allowing timely comparative analyses of CSF and blood trajectories across the entire disease spectrum. CSF and plasma trajectories were similar at presymptomatic stages, discriminating …

A Phase I First-In-Human Study Of Abbv-011, A Seizure-Related Homolog Protein 6-Targeting Antibody-Drug Conjugate, In Patients With Small Cell Lung Cancer, Daniel Morgensztern, Et Al.

2020-Current year OA Pubs

PURPOSE: Seizure-related homolog protein 6 (SEZ6) is a novel target expressed in small cell lung cancer (SCLC). ABBV-011, a SEZ6-targeted antibody conjugated to calicheamicin, was evaluated in a phase I study (NCT03639194) in patients with relapsed/refractory SCLC. We report initial outcomes of ABBV-011 monotherapy.

PATIENTS AND METHODS: ABBV-011 was administered intravenously once every 3 weeks during dose escalation (0.3-2 mg/kg) and expansion. Patients with SEZ6-positive tumors (≥25% of tumor cells with ≥1+ staining intensity by IHC) were preselected for expansion. Safety, tolerability, antitumor activity, and pharmacokinetics were evaluated.

RESULTS: As of August 2022, 99 patients received ABBV-011 monotherapy [dose escalation, …

Mitochondrial Pyruvate Transport Regulates Presynaptic Metabolism And Neurotransmission, Anupama Tiwari, Jongyun Myeong, Arsalan Hashemiaghdam, Marion I Stunault, Hao Zhang, Xiangfeng Niu, Marissa A Laramie, Jasmin Sponagel, Leah P Shriver, Gary J Patti, Vitaly A Klyachko, Ghazaleh Ashrafi

2020-Current year OA Pubs

Glucose has long been considered the primary fuel source for the brain. However, glucose levels fluctuate in the brain during sleep or circuit activity, posing major metabolic stress. Here, we demonstrate that the mammalian brain uses pyruvate as a fuel source, and pyruvate can support neuronal viability in the absence of glucose. Nerve terminals are sites of metabolic vulnerability, and we show that mitochondrial pyruvate uptake is a critical step in oxidative ATP production in hippocampal terminals. We find that the mitochondrial pyruvate carrier is post-translationally modified by lysine acetylation, which, in turn, modulates mitochondrial pyruvate uptake. Our data reveal …

High-Fat-Diet-Induced Hepatic Insulin Resistance Per Se Attenuates Murine De Novo Lipogenesis, Leigh Goedeke, Jordan W Strober, Rebecca Suh, Lauren M Paolella, Xiruo Li, Jillian C Rogers, Max C Petersen, Ali R Nasiri, Gregori Casals, Mario Kahn, Gary W Cline, Varman T Samuel, Gerald I Shulman, Daniel F Vatner

2020-Current year OA Pubs

Hepatic insulin resistance (IR) is often said to be "pathway-selective" with preserved insulin stimulation of

In Vivo Evaluation Of Complex Polyps With Endoscopic Optical Coherence Tomography And Deep Learning During Routine Colonoscopy: A Feasibility Study, Haolin Nie, Hongbo Luo, Vladimir Lamm, Shuying Li, Sanskar Thakur, Chao Zhou, Thomas Hollander, Daniel Cho, Erika Sloan, Jingxia Liu, Pooja Navale, Ahmad N Bazarbashi, Juan Pablo Reyes Genere, Vladimir M Kushnir, Quing Zhu

2020-Current year OA Pubs

Standard-of-care (SoC) imaging for assessing colorectal polyps during colonoscopy, based on white-light colonoscopy (WLC) and narrow-band imaging (NBI), does not have sufficient accuracy to assess the invasion depth of complex polyps non-invasively during colonoscopy. We aimed to evaluate the feasibility of a custom endoscopic optical coherence tomography (OCT) probe for assessing colorectal polyps during routine colonoscopy. Patients referred for endoscopic treatment of large colorectal polyps were enrolled in this pilot clinical study, which used a side-viewing OCT catheter developed for use with an adult colonoscope. OCT images of polyps were captured during colonoscopy immediately before SoC treatment. A deep learning …

Pvacview: An Interactive Visualization Tool For Efficient Neoantigen Prioritization And Selection, Huiming Xia, My H Hoang, Evelyn Schmidt, Susanna Kiwala, Joshua Mcmichael, Zachary L Skidmore, Bryan Fisk, Jonathan J Song, Jasreet Hundal, Thomas Mooney, Jason R Walker, S Peter Goedegebuure, Christopher A Miller, William E Gillanders, Obi L Griffith, Malachi Griffith

2020-Current year OA Pubs

BACKGROUND: Neoantigen-targeting therapies including personalized vaccines have shown promise in the treatment of cancers, particularly when used in combination with checkpoint blockade therapy. At least 100 clinical trials involving these therapies have been initiated globally. Accurate identification and prioritization of neoantigens is crucial for designing these trials, predicting treatment response, and understanding mechanisms of resistance. With the advent of massively parallel DNA and RNA sequencing technologies, it is now possible to computationally predict neoantigens based on patient-specific variant information. However, numerous factors must be considered when prioritizing neoantigens for use in personalized therapies. Complexities such as alternative transcript annotations, various …

Neoantigen Dna Vaccines Are Safe, Feasible, And Induce Neoantigen-Specific Immune Responses In Triple-Negative Breast Cancer Patients, Xiuli Zhang, S Peter Goedegebuure, Michael Y Chen, Rashmi Mishra, Felicia Zhang, Yik Yeung Yu, Kartik Singhal, Lijin Li, Feng Gao, Nancy B Myers, Tammi Vickery, Jasreet Hundal, Michael D Mclellan, Mark A Sturmoski, Samuel W Kim, Ina Chen, Jesse T Davidson, Narendra V Sankpal, Stephanie Myles, Rama Suresh, Cynthia X Ma, Ademuyiwa Foluso, Andrea Wang-Gillam, Sherri Davies, Ian S Hagemann, Elaine R Mardis, Obi Griffith, Malachi Griffith, Christopher A Miller, Ted H Hansen, Timothy P Fleming, Robert D Schreiber, William E Gillanders

2020-Current year OA Pubs

BACKGROUND: Neoantigen vaccines can induce or enhance highly specific antitumor immune responses with minimal risk of autoimmunity. We have developed a neoantigen DNA vaccine platform capable of efficiently presenting both HLA class I and II epitopes and performed a phase 1 clinical trial in triple-negative breast cancer patients with persistent disease on surgical pathology following neoadjuvant chemotherapy, a patient population at high risk of disease recurrence.

METHODS: Expressed somatic mutations were identified by tumor/normal exome sequencing and tumor RNA sequencing. The pVACtools software suite of neoantigen prediction algorithms was used to identify and prioritize cancer neoantigens and facilitate vaccine design …

The California Collaborative Network To Promote Data Driven Care And Improve Outcomes In Early Psychosis (Epi-Cal) Project: Rationale, Background, Design And Methodology, Valerie L Tryon, Adam B Wilcox, Et Al.

2020-Current year OA Pubs

BACKGROUND: A prolonged first episode of psychosis (FEP) without adequate treatment is a predictor of poor clinical, functional, and health outcomes and significant economic burden. Team-based "coordinated specialty care" (CSC) for early psychosis (EP) has established effectiveness in promoting clinical and functional recovery. However, California's CSC program implementation has been unsystematic and could benefit from standardizing its processes and data collection infrastructure. To address this, we established a consortium of EP clinics across the state via a Learning Health Care Network (LHCN) framework to develop the Early Psychosis Intervention Network of California (EPI-CAL). EPI-CAL's LHCN developed a core battery of …

Synthesis And Evaluation Of Photoaffinity Labeling Reagents For Identifying Binding Sites Of Sulfated Neurosteroids On Nmda And Gabaa Receptors, Mingxing Qian, Yuanjian Xu, Hong-Jin Shu, Zi-Wei Chen, Lei Wang, Charles F Zorumski, Alex S Evers, Steven Mennerick, Douglas F Covey

2020-Current year OA Pubs

The endogenous neurosteroids dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate (PS) are allosteric modulators of γ-aminobutyric acid type A (GABA

Behavioral And Neural Mechanisms Of Face-Specific Attention During Goal-Directed Visual Search, Jie Zhang, Xiaocang Zhu, Huihui Zhou, Shuo Wang

2020-Current year OA Pubs

Goal-directed visual attention is a fundamental cognitive process that enables animals to selectively focus on specific regions of the visual field while filtering out irrelevant information. However, given the domain specificity of social behaviors, it remains unclear whether attention to faces versus nonfaces recruits different neurocognitive processes. In this study, we simultaneously recorded activity from temporal and frontal nodes of the attention network while macaques performed a goal-directed visual search task. V4 and inferotemporal (IT) visual category-selective units, selected during cue presentation, discriminated fixations on targets and distractors during the search but were differentially engaged by face and house targets. …

Identification And Characterization Of The Lipoprotein N-Acyltransferase In Bacteroides, Krista M Armbruster, Jiawen Jiang, Mariana G Sartorio, Nichollas E Scott, Jenna M Peterson, Jonathan Z Sexton, Mario F Feldman, Nicole M Koropatkin

2020-Current year OA Pubs

Members of the Bacteroidota compose a large portion of the human gut microbiota, contributing to overall gut health via the degradation of various polysaccharides. This process is facilitated by lipoproteins, globular proteins anchored to the cell surface by a lipidated N-terminal cysteine. Despite their importance, lipoprotein synthesis by these bacteria is understudied. In

Evaluation Of Prognostic Factors In Patients With High-Risk Classical Hodgkin Lymphoma Undergoing Autologous Transplantation, Narendranath Epperla, Amanda F Cashen, Et Al.

2020-Current year OA Pubs

There are limited data assessing the risk scores for primary treatment failure (PTF) in patients with classical Hodgkin lymphoma (cHL; PTF-cHL) undergoing autologous hematopoietic cell transplantation (auto-HCT). ECLIPSE (Evaluation of Classical Hodgkin Lymphoma patients wIth Primary treatment failure and analySis of outcomEs) is a multicenter retrospective cohort of patients with PTF-cHL (aged ≥15 years) diagnosed on or after 1 January 2005, at 15 US medical centers. PTF was defined as 1 of the following patterns of failure: (1) progressive disease by imaging during or within 6 weeks of completion of frontline chemotherapy (primary progression [PP]); (2) partial response (PR) or …

Dilated Cardiomyopathy-Associated Skeletal Muscle Actin (Acta1) Mutation R256h Disrupts Actin Structure And Function And Causes Cardiomyocyte Hypocontractility, Ankit Garg, Silvia Jansen, Lina Greenberg, Rui Zhang, Kory J Lavine, Michael J Greenberg

2020-Current year OA Pubs

Skeletal muscle actin (ACTA1) mutations are a prevalent cause of skeletal myopathies consistent with ACTA1's high expression in skeletal muscle. Rare de novo mutations in ACTA1 associated with combined cardiac and skeletal myopathies have been reported, but ACTA1 represents only ~20% of the total actin pool in cardiomyocytes, making its role in cardiomyopathy controversial. Here we demonstrate how a mutation in an actin isoform expressed at low levels in cardiomyocytes can cause cardiomyopathy by focusing on a unique ACTA1 variant, R256H. We previously identified this variant in a family with dilated cardiomyopathy, who had reduced systolic function without clinical skeletal …

Human Immunodeficiency Virus-1 Genome From Patient With Fever, Nepal, Eans Tara Tuladhar, Bimal Sharma Chalise, Binod Khadka, Mamta Tamang, Jenish Neupane, Shankar Poudel, Lindsay Droit, Kathie A Mihindukulasuriya, Annie Elong Ngono, Yuba Nidhi Basaula, Sujan Shresta, David Wang, Krishna Das Manandhar

2020-Current year OA Pubs

A patient with fever presented to the referral infectious disease hospital in Kathmandu, Nepal. Metagenomic sequencing of the patient's serum recovered a near-complete genome of human immunodeficiency virus-1 (HIV-1), distinct from previous HIV-1 genomes from Nepal in GenBank. It shared 92.48% nucleotide identity with an HIV-1 subtype C isolate from India.

Associations Between Dietary Patterns And Quality Of Life In A Longitudinal Cohort Of Colorectal Cancer Survivors, Kristen S Smith, Adetunji T Toriola, Et Al.

2020-Current year OA Pubs

PURPOSE: To characterize dietary patterns and examine associations with cross-sectional and longitudinal changes in quality of life (QOL) over approximately one year after colorectal cancer (CRC) diagnosis.

METHODS: The ColoCare Study is an international, multi-center, prospective cohort study of newly diagnosed CRC survivors of any stage. A subset of participants with CRC in the United States completed patient-reported outcome measures at 6- and 12-months post-enrollment, including the Food Frequency Questionnaire (FFQ) and European Organization for the Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30). Dietary patterns at 6 months (around the time of treatment completion) were identified …