120,896 results match your criteria expanded


Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases.

Neuron 2021 Apr 13. Epub 2021 Apr 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U 1258, CNRS UMR 7104, University of Strasbourg, 67404 Illkirch, France. Electronic address:

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused by an expansion of GGC repeats in the 5' UTR of the NOTCH2NLC (N2C) gene. We found that these repeats are embedded in a small upstream open reading frame (uORF) (uN2C), resulting in their translation into a polyglycine-containing protein, uN2CpolyG. Read More

View Article and Full-Text PDF

Evaluating the Voice Type Component Distributions of Excised Larynx Phonations at Three Subglottal Pressures.

J Speech Lang Hear Res 2021 Apr 22:1-10. Epub 2021 Apr 22.

Division of Otolaryngology-Head & Neck Surgery, Department of Surgery, University of Wisconsin-Madison School of Medicine and Public Health.

Purpose The excised canine larynx provides an advantageous experimental framework in the study of voice physiology. In recent years, signal processing methods have been applied to analyze phonations in excised canine larynx experiments. However, phonations have a highly complex and nonstationary nature corresponding to different proportions of regular and chaotic signal elements. Read More

View Article and Full-Text PDF

Ultrasonographic Technique, Appearance, and Diagnostic Accuracy for Common Shoulder Sports Injuries: A Narrative Review.

JBJS Rev 2021 Apr 22;9(4). Epub 2021 Apr 22.

The Rothman Orthopaedic Institute at Thomas Jefferson University, Philadelphia, Pennsylvania.

»: Ultrasonography (US) is valued for its availability, tolerability, low cost, and utility in real-time dynamic evaluation. Its use in diagnosing upper-extremity shoulder injury has expanded, but several features require definition before more widespread adoption can be realized.

»: In particular, the evaluation of rotator cuff tears (RCTs) with US has been extensively studied, and authors generally agree that US is comparable with magnetic resonance imaging for the detection of full-thickness RCTs, whereas partial-thickness RCTs are more difficult to accurately identify with US. Read More

View Article and Full-Text PDF

Curricular response to COVID-19: real-time interactive telehealth experience (RITE) program.

Med Educ Online 2021 Dec;26(1):1918609

Senior Associate Dean (Education) and Richard P. Cohen Associate Professor, Weill Department of Medicine, Weill Cornell Medicine, New York, NY, USA.

. The COVID-19 pandemic placed an unprecedented strain on academic healthcare systems necessitating a pause in medical student teaching in clinical care settings, including at Weill Cornell Medicine (WCM). WCM had a preexisting telemedicine curriculum, but limited opportunities for students to apply knowledge and skills related to direct virtual patient care. Read More

View Article and Full-Text PDF
December 2021

Safety survey by clinical pharmacists on COVID-19 vaccination from a single center in China.

Hum Vaccin Immunother 2021 Apr 22:1-5. Epub 2021 Apr 22.

Department of Clinical Pharmacy, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

This study explored the safety of COVID-19 vaccine (Aikewei) and the role of clinical pharmacists in the implementation of COVID-19 vaccination. A total of 2305 hospital employees in Children's Hospital of Fudan University in Shanghai, China received the COVID-19 vaccine. The whole process of vaccination was monitored by clinical pharmacists, and the occurrence, types, severity of adverse reactions were recorded in detail. Read More

View Article and Full-Text PDF

An inductive qualitative content analysis of stigma experienced by people with rare diseases.

Psychol Health 2021 Apr 22:1-16. Epub 2021 Apr 22.

School of Psychological Science, Oregon State University, Corvallis, OR, USA.

Objective: There are more than 6,000 known rare diseases (RDs), which are often serious, chronic, and progressive conditions. Cumulatively, having a RD is actually common, impacting an estimated 300 million people worldwide. While the stigmatization of some specific RDs has been studied, examining stigma in a large sample of many RDs allows for a broader understanding of patterns. Read More

View Article and Full-Text PDF

Expanded Access and Right To Try Requests: The Community Oncologist's Experience.

JCO Oncol Pract 2021 Apr 22:OP2000569. Epub 2021 Apr 22.

Cardinal Health Specialty Solutions, Cardinal Health, Dublin, OH.

Purpose: For patients with cancer who have exhausted approved treatment options and for whom appropriate clinical trials are not available, access to investigational drugs through the US Food and Drug Administration's Expanded Access (EA) program has been an alternative since the program's inception more than 30 years ago. In 2018, federal Right To Try legislation was passed in the United States, creating a second pathway-one that bypasses the US Food and Drug Administration-to obtain unapproved drugs outside of clinical trials. The use of the two programs by community medical oncologists and hematologist-oncologists has not been studied. Read More

View Article and Full-Text PDF

Recent Advances in Biocatalysis with Chemical Modification and Expanded Amino Acid Alphabet.

Chem Rev 2021 Apr 22. Epub 2021 Apr 22.

Department of Systems Biotechnology, Konkuk University, 120 Neungdong-ro, Gwangjin-gu, Seoul 05029, Korea.

The two main strategies for enzyme engineering, directed evolution and rational design, have found widespread applications in improving the intrinsic activities of proteins. Although numerous advances have been achieved using these ground-breaking methods, the limited chemical diversity of the biopolymers, restricted to the 20 canonical amino acids, hampers creation of novel enzymes that Nature has never made thus far. To address this, much research has been devoted to expanding the protein sequence space via chemical modifications and/or incorporation of noncanonical amino acids (ncAAs). Read More

View Article and Full-Text PDF

Structure and Photoluminescence Transformation in Hybrid Manganese(II) Chlorides.

Inorg Chem 2021 Apr 22. Epub 2021 Apr 22.

Department of Chemistry, Academy for Advanced Interdisciplinary Studies, Shenzhen Engineering Research Center for Frontier Materials Synthesis at High Pressures, Southern University of Science and Technology (SUSTech), Shenzhen, Guangdong 518055, China.

Hybrid metal halides with tunable photoluminescence (PL) properties have emerged as a novel light-emitting material. Hybrid manganese halides are especially attractive due to the eco-friendly and highly emissive advantages. However, the PL tunability induced by structural modulation in manganese halides has rarely been investigated. Read More

View Article and Full-Text PDF

Weakened Cochlear Nonlinearity During Human Aging and Perceptual Correlates.

Ear Hear 2021 Feb 12. Epub 2021 Feb 12.

Caruso Department of Otolaryngology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

Objective: As humans age, compressive nonlinearity-a hallmark of healthy cochlear function-changes. The nonlinear distortion-component of the distortion product otoacoustic emission (DPOAE) provides a noninvasive gauge of cochlear nonlinearity. Earlier published work has suggested that weakened nonlinearity begins in middle age; the current work extends this investigation into the eight decade of life using advanced DPOAE data collection and analysis methods as well as multiple metrics of nonlinearity, including a test of loudness scaling. Read More

View Article and Full-Text PDF
February 2021

Organoids in cancer research: a review for pathologist-scientists.

J Pathol 2021 Apr 22. Epub 2021 Apr 22.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland, USA.

The use of three dimensional (3D) culture models for cancer research has expanded greatly in recent years, with studies in almost every tumor type addressing a wide variety of research questions. Multiple distinct 3D culture approaches are now available, each with its own advantages and disadvantages, as well as most effective applications. In this review, we focus on one of these 3D culture models, organoids, in which multicellular units are isolated from primary or metastatic tumors and cultured in extracellular matrix (ECM) gels. Read More

View Article and Full-Text PDF

[From nursing home to community-oriented center for health and long-term care : Continuity of care as reflected in an expanded range of services].

Z Gerontol Geriatr 2021 Apr 22. Epub 2021 Apr 22.

AG 6 Versorgungsforschung & Pflegewissenschaft, Fakultät für Gesundheitswissenschaften, Universität Bielefeld, Universitätsstr. 25, 33615, Bielefeld, Deutschland.

Background: Opening nursing homes for and in the community not only promotes the inclusion of the residents. Likewise, older people living close to the homes could benefit if the nursing homes offer support for them as well. This article focuses on the extent to which "nursing homes" succeed in contributing to the continuity of care for older people in the community by developing into "centers". Read More

View Article and Full-Text PDF

Focused ultrasound radiosensitizes human cancer cells by enhancement of DNA damage.

Strahlenther Onkol 2021 Apr 22. Epub 2021 Apr 22.

Innovation Center Computer Assisted Surgery (ICCAS), University of Leipzig, Semmelweisstr. 14, Haus 14, Leipzig, 04103, Germany.

Purpose: High-intensity focused ultrasound (HIFU/FUS) has expanded as a noninvasive quantifiable option for hyperthermia (HT). HT in a temperature range of 40-47 °C (thermal dose CEM43 ≥ 25) could work as a sensitizer to radiation therapy (RT). Here, we attempted to understand the tumor radiosensitization effect at the cellular level after a combination treatment of FUS+RT. Read More

View Article and Full-Text PDF

CRK2 Enhances Salt Tolerance by Regulating Callose Deposition in Connection with PLDα1.

Plant Physiol 2019 Jul;180(4):2004-2021

Viikki Plant Science Centre, Organismal and Evolutionary Biology Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.

High salinity is an increasingly prevalent source of stress to which plants must adapt. The receptor-like protein kinases, including members of the Cys-rich receptor-like kinase (CRK) subfamily, are a highly expanded family of transmembrane proteins in plants that are largely responsible for communication between cells and the extracellular environment. Various CRKs have been implicated in biotic and abiotic stress responses; however, their functions on a cellular level remain largely uncharacterized. Read More

View Article and Full-Text PDF

TPX2-LIKE PROTEIN3 Is the Primary Activator of α-Aurora Kinases and Is Essential for Embryogenesis.

Plant Physiol 2019 Jun;180(3):1389-1405

Department of Plant Biotechnology and Bioinformatics, Ghent University, 9052 Ghent, Belgium.

Aurora kinases are key regulators of mitosis. Multicellular eukaryotes generally possess two functionally diverged types of Aurora kinases. In plants, including Arabidopsis (Arabidopsis thaliana), these are termed α- and β-Auroras. Read More

View Article and Full-Text PDF

Interactive Tree Of Life (iTOL) v5: an online tool for phylogenetic tree display and annotation.

Nucleic Acids Res 2021 Apr 22. Epub 2021 Apr 22.

EMBL, Meyerhofstrasse 1, 69117 Heidelberg, Germany.

The Interactive Tree Of Life (https://itol.embl.de) is an online tool for the display, manipulation and annotation of phylogenetic and other trees. Read More

View Article and Full-Text PDF

Racial/Ethnic Disparities in Ophthalmology Clinical Trials Resulting in US Food and Drug Administration Drug Approvals From 2000 to 2020.

JAMA Ophthalmol 2021 Apr 22. Epub 2021 Apr 22.

Vanderbilt University Medical Center, Vanderbilt Eye Institute, Nashville, Tennessee.

Importance: Diverse, representative enrollment in pivotal clinical trials is vital to sufficiently power subgroup analyses and ensure equity and validity of trial results.

Objective: To evaluate the racial/ethnic representation, trends, and disparities in clinical trials leading to US Food and Drug Administration (FDA) ophthalmology drug approvals from 2000 to 2020.

Design, Setting, And Participants: This cohort study used data from participants in clinical trials of drugs for neovascular age-related macular degeneration (AMD), open-angle glaucoma (OAG), and expanded indications for diabetic retinopathy (DR) from January 1, 2000, to December 31, 2020. Read More

View Article and Full-Text PDF

Evaluation of Safety of Stereotactic Body Radiotherapy for the Treatment of Patients With Multiple Metastases: Findings From the NRG-BR001 Phase 1 Trial.

JAMA Oncol 2021 Apr 22. Epub 2021 Apr 22.

Ohio State University Comprehensive Cancer Center, Columbus.

Importance: Stereotactic body radiotherapy (SBRT) for oligometastases is hypothesized to improve survival and is increasingly used. Little evidence supports its safe use to treat patients with multiple metastases.

Objective: To establish safety of SBRT dose schedules in patients with 3 to 4 metastases or 2 metastases in close proximity to each other. Read More

View Article and Full-Text PDF

Hydroxyl-group-activated azomethine ylides in organocatalytic H-bond-assisted 1,3-dipolar cycloadditions and beyond.

Org Biomol Chem 2021 Apr 24;19(14):3075-3086. Epub 2021 Mar 24.

Institute of Organic Chemistry, Faculty of Chemistry, Lodz University of Technology, Zeromskiego 116, 90-924 Łódź, Poland.

1,3-Dipolar cycloaddition constitutes a powerful means for the synthesis of five-membered heterocycles. Recently, the potential of this field of chemistry has been expanded by the employment of organocatalytic activation strategies. One group of substrates, namely imines derived from salicylaldehydes, is particularly useful. Read More

View Article and Full-Text PDF

Evaluation of EEG training curricula for non-specialist clinicians: a systematic qualitative review.

Epileptic Disord 2021 Apr 22. Epub 2021 Apr 22.

Department of Neurophysiology, Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, Neuroscience Institute, University of Cape Town, South Africa.

Objective: Neurologists and epileptologists are scarce in sub-Saharan Africa (SSA). Whilst electroencephalograms (EEGs) are becoming more available in the region, interpretation is typically undertaken by non-specialist clinicians with limited or no training. This is a systematic review of the peer-reviewed literature on EEG training of non-specialist clinicians worldwide, assessing the efficacy of the training methodology and the curricula content. Read More

View Article and Full-Text PDF

Shifts in behavioral allocation patterns as a natural recovery mechanism: Post-resolution expenditure patterns.

Alcohol Clin Exp Res 2021 Apr 22. Epub 2021 Apr 22.

University of Florida Department of Health Education and Behavior, and Center for Behavioral Economic Health Research, Gainesville, Florida, USA.

Background: Behavioral economics predicts that recovery from Alcohol Use Disorder involves shifts in resource allocation away from drinking, toward valuable non-drinking rewards that reinforce and stabilize recovery behavior patterns, and these shifts should distinguish non-problem drinking (moderation) outcomes from outcomes involving abstinence or relapse. To evaluate this hypothesis, five prospective studies of recent natural recovery attempts were integrated to examine changes in monetary spending during the year following initial cessation of heavy drinking as a function of 1-year drinking outcomes.

Methods: Problem drinkers from Southeastern U. Read More

View Article and Full-Text PDF

Refractory Stage M Ganglioneuroblastoma With Bone Metastases and a Favorable, Chronic Course of Disease: Description of a Patient Cohort.

J Pediatr Hematol Oncol 2021 Apr 21. Epub 2021 Apr 21.

Departments of Solid Tumors Diagnostics and Pathology, Princess Máxima Center for Pediatric Oncology Departments of Radiology and Nuclear Medicine Pathology, University Medical Center Utrecht, Utrecht Department of Pediatric Oncology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen Department of Pathology, Section Neuropathology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.

Refractory stage M neuroblastoma (NB) is associated with a poor prognosis and a progressive course of disease. Here, we describe a unique group of patients with a discrepant clinical course. Seven histologically confirmed ganglioneuroblastoma (GNB) (n=6) and differentiating NB (n=1) patients were identified who were diagnosed with stage M disease based on iodine-123-metaiodobenzylguanidine avid bone metastases. Read More

View Article and Full-Text PDF

CD4+ and CD25+ T cell response to short-time interferon-beta therapy on IL10, IL23A and FOXP3 genes in multiple sclerosis patients.

Int J Clin Pract 2021 Apr 22:e14238. Epub 2021 Apr 22.

Department of Medical Biology, Faculty of Medicine, Yeditepe University, 34755, Istanbul, Turkey.

Aim Of The Study: Interferon-beta (IFN-β), multiple sclerosis (MS) drug for years, does not have therapeutic effects on each patient. Yet, a considerable portion has experienced no therapeutic response to IFN-β. Therefore, it is necessary to determine disease-specific biomarkers that affect drug response. Read More

View Article and Full-Text PDF

Safety analysis of ex vivo-expanded canine natural killer cells in a xenogeneic mouse model of graft-versus-host disease.

J Leukoc Biol 2021 Apr 22. Epub 2021 Apr 22.

Department of Laboratory and Companion Animal Science, College of Industrial Science, Kongju National University, Yesan-gun, Chungnam, Republic of Korea.

Canine natural killer (NK) cells are large, granular lymphocytes that are neither B lymphocytes nor T lymphocytes. However, it has been reported that canine NK cells share some of the phenotypic characteristics of T lymphocytes, such as CD3 and CD5. Studies are needed to assess the safety of canine NK cells for immunotherapy, especially because the safety of using allogeneic NK cells as an immunotherapy for dogs has yet to be shown. Read More

View Article and Full-Text PDF

How do environmental values impact green product purchase intention? The moderating role of green trust.

Environ Sci Pollut Res Int 2021 Apr 22. Epub 2021 Apr 22.

School of Economics and Management, China University of Mining and Technology, Xuzhou, 221116, China.

Environmental values are key factors influencing consumers' purchase intentions and improving consumers' willingness to buy green products is crucial for the sustainable development of ecological environments. Based on environmental values and green product trust, the present study classified environmental values into egoistic, altruistic, and biospheric values and discussed the influence mechanisms of environmental values on green product purchase intention. On this basis, the study verified the mediating role of environmental concern and the moderating role of green trust on the relationship between environmental concern and green product purchase intention. Read More

View Article and Full-Text PDF

Neuroplasticity in post-stroke aphasia: A systematic review and meta-analysis of functional imaging studies of reorganization of language processing.

Neurobiol Lang (Camb) 2021 1;2(1):22-82. Epub 2020 Dec 1.

Language Neuroscience Laboratory, Department of Hearing and Speech Sciences, Vanderbilt University Medical Center.

Recovery from aphasia is thought to depend on neural plasticity, that is, functional reorganization of surviving brain regions such that they take on new or expanded roles in language processing. We carried out a systematic review and meta-analysis of all articles published between 1995 and early 2020 that have described functional imaging studies of six or more individuals with post-stroke aphasia, and have reported analyses bearing on neuroplasticity of language processing. Each study was characterized and appraised in detail, with particular attention to three critically important methodological issues: task performance confounds, contrast validity, and correction for multiple comparisons. Read More

View Article and Full-Text PDF
December 2020

Platypus: an open-access software for integrating lymphocyte single-cell immune repertoires with transcriptomes.

NAR Genom Bioinform 2021 Jun 14;3(2):lqab023. Epub 2021 Apr 14.

Department of Biosystems Science and Engineering, ETH Zurich, 4058 Basel, Switzerland.

High-throughput single-cell sequencing (scSeq) technologies are revolutionizing the ability to molecularly profile B and T lymphocytes by offering the opportunity to simultaneously obtain information on adaptive immune receptor repertoires (VDJ repertoires) and transcriptomes. An integrated quantification of immune repertoire parameters, such as germline gene usage, clonal expansion, somatic hypermutation and transcriptional states opens up new possibilities for the high-resolution analysis of lymphocytes and the inference of antigen-specificity. While multiple tools now exist to investigate gene expression profiles from scSeq of transcriptomes, there is a lack of software dedicated to single-cell immune repertoires. Read More

View Article and Full-Text PDF

Engaging Undergraduates in Research Experiences at a Distance: Insights and Recommendations for Remote URE.

J Microbiol Biol Educ 2021 31;22(1). Epub 2021 Mar 31.

Department of Biology, College of Charleston, Charleston, SC 29424.

Undergraduates phenotyping knockouts (unPAK) is a biology research network that has provided undergraduate research experiences (URE) since 2010. In 2019, unPAK expanded to include a summer URE that engaged undergraduate researchers from across the network in an intensive collaborative program. In response to the COVID-19 pandemic in 2020, unPAK rapidly shifted to provide the summer URE program remotely. Read More

View Article and Full-Text PDF

Integrative descriptions of two new species of from Hainan Island, China (Platyhelminthes, Tricladida, Dugesiidae).

Zookeys 2021 5;1028:1-28. Epub 2021 Apr 5.

College of Life Science, Henan Normal University, Xinxiang, 453007 Henan, China Henan Normal University Xinxiang China.

Two new species of the genus (Platyhelminthes, Tricladida, Dugesiidae) from Hainan Island of China are described on the basis of morphological, karyological and molecular data. Chen & Dong, . is mainly characterized by a hemispherical, asymmetrical penis papilla with ventrally displaced ejaculatory duct opening terminally at tip of penis papilla; vasa deferentia separately opening into mid-dorsal portion of intrabulbar seminal vesicle; two diaphragms in the ejaculatory duct; copulatory bursa formed by expansion of bursal canal, lined with complex stratified epithelium, which projects through opening in bursa towards intestine, without having open communication with the gut; mixoploid chromosome complement diploid (2n = 16) and triploid (3n = 24), with metacentric chromosomes. Read More

View Article and Full-Text PDF