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JOURNAL ARTICLE
Julie K Wisch, Nicole S McKay, Anna H Boerwinkle, James Kennedy, Shaney Flores, Benjamin L Handen, Bradley T Christian, Elizabeth Head, Mark Mapstone, Michael S Rafii, Sid E O'Bryant, Julie C Price, Charles M Laymon, Sharon J Krinsky-McHale, Florence Lai, H Diana Rosas, Sigan L Hartley, Shahid Zaman, Ira T Lott, Dana Tudorascu, Matthew Zammit, Adam M Brickman, Joseph H Lee, Thomas D Bird, Annie Cohen, Patricio Chrem, Alisha Daniels, Jasmeer P Chhatwal, Carlos Cruchaga, Laura Ibanez, Mathias Jucker, Celeste M Karch, Gregory S Day, Jae-Hong Lee, Johannes Levin, Jorge Llibre-Guerra, Yan Li, Francisco Lopera, Jee Hoon Roh, John M Ringman, Charlene Supnet-Bell, Christopher H van Dyck, Chengjie Xiong, Guoqiao Wang, John C Morris, Eric McDade, Randall J Bateman, Tammie L S Benzinger, Brian A Gordon, Beau M Ances
BACKGROUND: In people with genetic forms of Alzheimer's disease, such as in Down syndrome and autosomal-dominant Alzheimer's disease, pathological changes specific to Alzheimer's disease (ie, accumulation of amyloid and tau) occur in the brain at a young age, when comorbidities related to ageing are not present. Studies including these cohorts could, therefore, improve our understanding of the early pathogenesis of Alzheimer's disease and be useful when designing preventive interventions targeted at disease pathology or when planning clinical trials...
May 2024: Lancet Neurology
#2
JOURNAL ARTICLE
Tom Ben-Dov, Lydia Pan, Alex J Gordon, Zahrah Taufique, Firas Kassem, Scott Rickert
OBJECTIVE: To measure postoperative airway volumes among patients with craniofacial abnormalities and compare them to normative values. STUDY DESIGN: Retrospective, comparative study. SETTING: Academic Medical Center. METHODS: Retrospective analysis of imaging of children with craniofacial abnormalities treated at NYU Langone Health from January 2013 to February 2021. Upper airway volumes postcraniofacial surgery were measured using 3D processing software (Dolphin 3D, version 11...
April 12, 2024: Otolaryngology—Head and Neck Surgery
#3
JOURNAL ARTICLE
Rana Kolahi Ahari, Nazanin Akbari, Negin Babaeepoor, Zahra Fallahi, Sara Saffar Soflaei, Gordon Ferns, Mahmoud Ebrahimi, Mohsen Moohebati, Habibollah Esmaily, Majid Ghayour-Mobarhan
OBJECTIVE: We aimed to compare the association of three novel inflammatory indicators with metabolic syndrome (MetS) among Mashhad stroke and heart atherosclerotic disorder (MASHAD) cohort participants. METHODS: According to the International Diabetes Federation (IDF) criteria, the cohort participants were divided into the MetS(+) and MetS(-) groups. The lymphocyte to high-density lipoprotein cholesterol (HDL-C) ratio (LHR), high-sensitivity C-reactive protein (hs-CRP) to HDL-C ratio (HCHR) and hs-CRP to lymphocyte ratio (HCLR) were calculated and were compared between the groups...
May 2024: Endocrinology, Diabetes & Metabolism
#4
JOURNAL ARTICLE
Emily R Gordon, Caroline Chen, Megan H Trager, Oluwaseyi Adeuyan, Brigit A Lapolla, Lauren M Fahmy, Celine M Schreidah, David A Wetter, Larisa J Geskin
Monoclonal Gammopathy of Undetermined Significance (MGUS) is a clonal plasma cell disorder that is considered preneoplastic, asymptomatic, and only requiring observation. However, MGUS may result in cutaneous complications, which are poorly understood, causing treatment delays and patient suffering. We present 30 patients with cutaneous findings associated with MGUS, characterizing clinical presentations, isoforms, treatments, and outcomes. These included: MGUS-associated 'rashes' (pruritic eczematous rashes), reactive and mucin-depositional conditions (pyoderma gangrenosum, scleromyxedema), M-protein-related deposition disorders (POEMS syndrome, Waldenstrom macroglobulinemia), and cutaneous lymphomas...
April 6, 2024: Leukemia & Lymphoma
#5
JOURNAL ARTICLE
Mitchell Lawlor, Brandon Huynh, Kate Humphreys, Lola Ogunbowale, Michael D Kopelman, Gordon Terence Plant
OBJECTIVE: Recent research has helped to develop a more detailed understanding of many functional neurologic disorders. The aim of this study was to increase our knowledge of functional visual loss and to compare the findings with those of other functional syndromes. DESIGN: Prospective and retrospective observational cohort study. METHODS: This study took place at neuro-ophthalmology clinics at 3 major hospitals in London, United Kingdom, over a 12-month period...
April 2, 2024: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
#6
JOURNAL ARTICLE
Carlos R Gordon, Roy Zaltzman, Dario Geisinger, Zohar Elyoseph, Yoav Gimmon
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowly progressing autosomal recessive ataxic disorder linked to an abnormal biallelic intronic (most commonly) AAGGG repeat expansion in the replication factor complex subunit 1 (RFC1). While the clinical diagnosis is relatively straightforward when the three components of the disorder are present, it becomes challenging when only one of the triad (cerebellar ataxia, neuropathy or vestibular areflexia) manifests. Isolated cases of Bilateral Vestibulopathy (BVP) or vestibular areflexia that later developed the other components of CANVAS have not been documented...
April 2, 2024: Journal of the Neurological Sciences
#7
JOURNAL ARTICLE
Anna Eligulashvili, Moshe Gordon, Jimmy S Lee, Jeylin Lee, Shiv Mehrotra-Varma, Jai Mehrotra-Varma, Kevin Hsu, Imanyah Hilliard, Kristen Lee, Arleen Li, Muhammed Amir Essibayi, Judy Yee, David J Altschul, Emad Eskandar, Mark F Mehler, Tim Q Duong
BACKGROUND: Acute neurological manifestation is a common complication of acute Coronavirus Disease 2019 (COVID-19) disease. This retrospective cohort study investigated the 3-year outcomes of patients with and without significant neurological manifestations during initial COVID-19 hospitalization. METHODS AND FINDINGS: Patients hospitalized for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection between 03/01/2020 and 4/16/2020 in the Montefiore Health System in the Bronx, an epicenter of the early pandemic, were included...
April 2024: PLoS Medicine
#8
JOURNAL ARTICLE
Maria I Bergamasco, Hannah K Vanyai, Alexandra L Garnham, Niall D Geoghegan, Adam P Vogel, Samantha Eccles, Kelly L Rogers, Gordon K Smyth, Marnie E Blewitt, Anthony J Hannan, Tim Thomas, Anne K Voss
Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment...
April 1, 2024: Journal of Clinical Investigation
#9
JOURNAL ARTICLE
Brendan Denvir, Philip M Carlucci, Kelly Corbitt, Jill P Buyon, H Michael Belmont, Heather T Gold, Jane E Salmon, Anca Askanase, Joan M Bathon, Laura Geraldino-Pardilla, Yousaf Ali, Ellen M Ginzler, Chaim Putterman, Caroline Gordon, Kamil E Barbour, Charles G Helmick, Hilary Parton, Peter M Izmirly
OBJECTIVE: Leveraging the Manhattan Lupus Surveillance Program (MLSP), a population-based registry of cases of systemic lupus erythematosus (SLE) and related diseases, we investigated the proportion of SLE with concomitant rheumatic diseases, including Sjögren's disease (SjD), antiphospholipid syndrome (APLS), and fibromyalgia (FM), as well as the prevalence of autoantibodies in SLE by sex and race/ethnicity. METHODS: Prevalent SLE cases fulfilled one of three sets of classification criteria...
2024: Front Epidemiol
#10
JOURNAL ARTICLE
Rochelle L Coulson, Valentina Frattini, Caitlin E Moyer, Jennifer Hodges, Peter Walter, Philippe Mourrain, Yi Zuo, Gordon X Wang
Fragile X syndrome (FXS) is caused by the loss of fragile X messenger ribonucleoprotein (FMRP), a translational regulator that binds the transcripts of proteins involved in synaptic function and plasticity. Dysregulated protein synthesis is a central effect of FMRP loss, however, direct translational modulation has not been leveraged in the treatment of FXS. Thus, we examined the effect of the translational modulator integrated stress response inhibitor (ISRIB) in treating synaptic and behavioral symptoms of FXS...
April 19, 2024: IScience
#11
REVIEW
Alexandra E Conway, Marylee Verdi, Marcus S Shaker, Jonathan A Bernstein, Claire C Beamish, Richard Morse, Juliette Madan, Michael W Lee, Gordon Sussman, Amer Al-Nimr, Matthew Hand, Daniel A Albert
Allergist-immunologists face significant challenges as experts in an ever-evolving field of neuroimmunology. Among these challenges is the increasingly frequent need to counsel patients with suspected mast cell-activation disorders about perceived comorbidities, which may include hypermobile Ehlers Danlos syndrome, amplified pain syndrome, fibromyalgia, burning sensation syndromes, migraines, irritable bowel syndrome, and postural orthostatic tachycardia syndrome. Patients may experience comorbid anxiety, panic disorder and depression associated with disturbed sleep, fatigue, and cognitive impairment that often worsen when their physical symptoms increase in severity...
March 16, 2024: Journal of Allergy and Clinical Immunology in Practice
#12
JOURNAL ARTICLE
David Benjamin Antcliffe, Yuxin Mi, Shalini Santhakumaran, Katie L Burnham, A Toby Prevost, Josie K Ward, Timothy J Marshall, Claire Bradley, Farah Al-Beidh, Paula Hutton, Stuart McKechnie, Emma E Davenport, Charles J Hinds, Cecilia M O'Kane, Daniel Francis McAuley, Manu Shankar-Hari, Anthony C Gordon, Julian C Knight
RATIONALE: Heterogeneity of the host response within sepsis, acute respiratory distress syndrome (ARDS) and more widely critical illness, limits discovery and targeting of immunomodulatory therapies. Clustering approaches using clinical and circulating biomarkers have defined hyper-inflammatory and hypo-inflammatory subphenotypes in ARDS associated with differential treatment response. It is unknown if similar subphenotypes exist in sepsis populations where leucocyte transcriptomic-defined subphenotypes have been reported...
March 12, 2024: Thorax
#13
Gun Min Youn, Karan S Cheema, Peter A Young, Gordon H Bae
Nicolau syndrome is a rare adverse reaction that can occur in the setting of intramuscular, intravenous, and subcutaneous injections. Proper diagnosis and management are critical to avoid complications including abscesses, muscular atrophy, and necrotizing fasciitis. Here, we report a 55-year-old female with multiple sclerosis who presented to our clinic following a subcutaneous injection of 40mg of glatiramer. She immediately noted a sharp pain and erythema, which developed into a purple discoloration, became purulent, and eventually necrosed...
February 2024: Curēus
#14
JOURNAL ARTICLE
Krishna Kiran Kota, Deborah Gelaude, Neal Carnes, Alisú Schoua-Glusberg, Paula M Frew, Laura Randall, Bryan Gale, Valerie Betley, Gordon Mansergh
Pre-exposure prophylaxis (PrEP) reduces sexual risk for HIV transmission by 99% when used appropriately, but remains underutilized among gay, bisexual, and other men who have sex with men (MSM). In this mixed-method study, we describe reasons for PrEP refusal associated with low self-perceived need for PrEP among MSM who recently declined daily oral PrEP when offered by a provider. Data are from a quantitative behavioral survey of MSM (N = 93) living in Atlanta, Chicago, and Raleigh-Durham, who also either responded to an in-depth interview (n = 51) or participated in one of 12 focus groups (n = 42)...
March 8, 2024: AIDS and Behavior
#15
JOURNAL ARTICLE
Andrew S Poklepovic, Sarah W Gordon, Sejal Kothadia, William P McGuire, Leroy R Thacker, Xiaoyan Deng, Mary Beth Tombes, Ellen Shrader, Daniel Hudson, Dipankar Bandyopadhyay, Alison A Ryan, Maciej Kmieciak, Steven Smith, Paul Dent
The purpose of this study is to establish the recommended phase 2 dose for regorafenib in combination with sildenafil for patients with advanced solid tumors. Secondary outcomes included identification of antitumor effects of regorafenib and sildenafil, toxicity of the combination, determination of PDE5 expression in tumor samples, and the impact of sildenafil on the pharmacokinetics of regorafenib. This study was a phase 1, open-label single-arm dose-escalation trial using a 3 + 3 design. Additional patients were enrolled at the maximum tolerated dose (MTD) until a total of 12 patients were treated at the MTD...
June 1, 2024: Anti-cancer Drugs
#16
JOURNAL ARTICLE
Elizabeth J Klemm, Muhammad Imran Nisar, Matt Bawn, Dilruba Nasrin, Farah Naz Qamar, Andrew Page, Farheen Qadri, Sadia Shakoor, Anita Km Zaidi, Myron M Levine, Gordon Dougan, Robert A Kingsley
Aeromonas spp. are associated with a number of infectious syndromes in humans including gastroenteritis and dysentery. Our understanding of the genetic diversity, population structure, virulence determinants and antimicrobial resistance of the genus has been limited by a lack of sequenced genomes linked to metadata. We performed a comprehensive analysis of the whole genome sequences of 447 Aeromonas isolates from children in Karachi, Pakistan, with moderate-to-severe diarrhoea (MSD) and from matched controls without diarrhoea that were collected as part of the Global Enteric Multicenter Study (GEMS)...
March 2024: Microbial Genomics
#17
JOURNAL ARTICLE
Bradley S Price, Maryam Khodaverdi, Brian Hendricks, Gordon S Smith, Wes Kimble, Adam Halasz, Sara Guthrie, Julia D Fraustino, Sally L Hodder
OBJECTIVES: The goal of this study is to propose and test a scalable framework for machine learning (ML) algorithms to predict near-term severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) cases by incorporating and evaluating the impact of real-time dynamic public health data. MATERIALS AND METHODS: Data used in this study include patient-level results, procurement, and location information of all SARS-CoV-2 tests reported in West Virginia as part of their mandatory reporting system from January 2021 to March 2022...
April 2024: JAMIA Open
#18
JOURNAL ARTICLE
Mitochondrial fusion and altered beta-oxidation drive muscle wasting in a Drosophila cachexia model.
Callum Dark, Nashia Ali, Sofya Golenkina, Vaibhav Dhyani, Ronnie Blazev, Benjamin L Parker, Kate T Murphy, Gordon S Lynch, Tarosi Senapati, S Sean Millard, Sarah M Judge, Andrew R Judge, Lopamudra Giri, Sarah M Russell, Louise Y Cheng
Cancer cachexia is a tumour-induced wasting syndrome, characterised by extreme loss of skeletal muscle. Defective mitochondria can contribute to muscle wasting; however, the underlying mechanisms remain unclear. Using a Drosophila larval model of cancer cachexia, we observed enlarged and dysfunctional muscle mitochondria. Morphological changes were accompanied by upregulation of beta-oxidation proteins and depletion of muscle glycogen and lipid stores. Muscle lipid stores were also decreased in Colon-26 adenocarcinoma mouse muscle samples, and expression of the beta-oxidation gene CPT1A was negatively associated with muscle quality in cachectic patients...
March 1, 2024: EMBO Reports
#19
JOURNAL ARTICLE
Yafei Mao, William T Harvey, David Porubsky, Katherine M Munson, Kendra Hoekzema, Alexandra P Lewis, Peter A Audano, Allison Rozanski, Xiangyu Yang, Shilong Zhang, DongAhn Yoo, David S Gordon, Tyler Fair, Xiaoxi Wei, Glennis A Logsdon, Marina Haukness, Philip C Dishuck, Hyeonsoo Jeong, Ricardo Del Rosario, Vanessa L Bauer, Will T Fattor, Gregory K Wilkerson, Yuxiang Mao, Yongyong Shi, Qiang Sun, Qing Lu, Benedict Paten, Trygve E Bakken, Alex A Pollen, Guoping Feng, Sara L Sawyer, Wesley C Warren, Lucia Carbone, Evan E Eichler
We sequenced and assembled using multiple long-read sequencing technologies the genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and marmoset. We identified 1,338,997 lineage-specific fixed structural variants (SVs) disrupting 1,561 protein-coding genes and 136,932 regulatory elements, including the most complete set of human-specific fixed differences. We estimate that 819.47 Mbp or ∼27% of the genome has been affected by SVs across primate evolution. We identify 1,607 structurally divergent regions wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (e...
February 23, 2024: Cell
#20
JOURNAL ARTICLE
Emily R Wener, Jacob D McLennan, Blake C Papsin, Sharon L Cushing, Dimitri James Stavropoulos, Roberto Mendoza-Londono, Nada Quercia, Karen A Gordon
OBJECTIVE: The objective of this study was to assess the prevalence of genetic variants associated with hearing loss in a large cohort of children in Canada using high throughput next generation sequencing (NGS). METHODS: A total of 485 children with hearing loss underwent NGS testing with an 80 gene panel of syndromic and non-syndromic variants known to be associated with hearing loss. Genetic variants were classified as pathogenic, likely pathogenic, likely benign, benign, or variants of uncertain significance (VUS), according to the American College of Medical Genetics and Genomics guidelines...
March 1, 2024: Laryngoscope
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