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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Sex Dev 2021 Jul 22:1-9. Epub 2021 Jul 22.

Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France.

Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a cohort of 140 individuals with 46,XY DSD, we identified 7 children with either 46,XY complete gonadal dysgenesis or 46,XY TRS carrying rare or novel DHX37 variants. Read More

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The functional cross talk between cancer cells and cancer associated fibroblasts from a cancer mechanics perspective.

Biochim Biophys Acta Mol Cell Res 2021 Jul 19:119103. Epub 2021 Jul 19.

Faculty of Biomedical Engineering, Amirkabir University of Technology, Tehran, Iran. Electronic address:

The function of biological tissues in health and disease is regulated at cellular level and is highly influenced by the physical microenvironment, through the interaction of forces between cells and ECM, which are perceived through mechanosensing pathways. In cancer, both chemical and physical signaling cascades and their interactions are involved during cell-cell and cell-ECM communications to meet requirements of tumor growth. Among stroma cells, cancer associated fibroblasts (CAFs) play key role in tumor growth and pave the way for cancer cells to initiate metastasis and invasion to other tissues, and without recruitment of CAFs, the process of cancer invasion is dysfunctional. Read More

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Personalized 0D-1D multiscale hemodynamic modeling and wave dynamics analysis of cerebral circulation for an elderly patient with dementia.

Int J Numer Method Biomed Eng 2021 Jul 22:e3510. Epub 2021 Jul 22.

Graduate School of Engineering, Chiba University, Chiba, Japan.

Senile dementia is associated with pronounced alterations in cerebral circulation. A fundamental understanding of intracranial hemodynamics and wave dynamics is essential for assessing dementia risk. Recent findings suggest that higher carotid artery wave intensity (WI) can predict future cognitive impairments in the elderly. Read More

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Oils Rich in α-Linolenic Acid or Docosahexaenoic Acid Have Distinct Effects on Plasma Oxylipin and Adiponectin Concentrations and on Monocyte Bioenergetics in Women with Obesity.

J Nutr 2021 Jul 22. Epub 2021 Jul 22.

Department of Food and Human Nutritional Sciences, University of Manitoba, Manitoba, Canada.

Background: Omega-3 fatty acids, including DHA and α-linolenic acid (ALA), are proposed to improve metabolic health by reducing obesity-associated inflammation. Their effects are mediated in part by conversion to oxylipins. ALA is relatively understudied, and direct comparisons to other omega-3 fatty acids are limited. Read More

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USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi network.

Carcinogenesis 2021 Jul 22. Epub 2021 Jul 22.

Department of Physiology, Ajou University School of Medicine, Suwon, Republic of Korea.

Alternative splicing of RNA transcripts plays an important role in cancer development and progression. Recent advances in RNA-seq technology have made it possible to identify alternately spliced events in various types of cancer; however, research on hepatocellular carcinoma (HCC) is still limited. Here, by performing RNA-Seq profiling of HCC transcripts at isoform level, we identified tumor-specific and molecular subtype-dependent expression of the USO1 isoforms, which we designated as a normal form USO1-N (XM_001290049) and a tumor form USO1-T (NM_003715). Read More

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Mortality and associated risk factors of COVID-19 infection in dialysis patients in Qatar: A nationwide cohort study.

PLoS One 2021 22;16(7):e0254246. Epub 2021 Jul 22.

Hamad Medical Corporation, Doha, Qatar.

Context: Patients on maintenance dialysis are more susceptible to COVID-19 and its severe form. We studied the mortality and associated risks of COVID-19 infection in dialysis patients in the state of Qatar.

Methods: This was an observational, analytical, retrospective, nationwide study. Read More

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A mathematical investigation into the uptake kinetics of nanoparticles in vitro.

PLoS One 2021 22;16(7):e0254208. Epub 2021 Jul 22.

Department for Applied Mathematics, Liverpool John Moores University, Liverpool, United Kingdom.

Nanoparticles have the potential to increase the efficacy of anticancer drugs whilst reducing off-target side effects. However, there remain uncertainties regarding the cellular uptake kinetics of nanoparticles which could have implications for nanoparticle design and delivery. Polymersomes are nanoparticle candidates for cancer therapy which encapsulate chemotherapy drugs. Read More

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Use of non-invasive intracranial pressure pulse waveform to monitor patients with End-Stage Renal Disease (ESRD).

PLoS One 2021 22;16(7):e0240570. Epub 2021 Jul 22.

Biological and Health Sciences Division, State University of Ponta Grossa-UEPG, Ponta Grossa-PR, Brazil.

End-stage renal disease (ESRD) is treated mainly by hemodialysis, however, hemodialysis is associated with frequent complications, some of them involve the increased intracranial pressure. In this context, monitoring the intracranial pressure of these patients may lead to a better understanding of how intracranial pressure morphology varies with hemodialysis. This study aimed to follow-up patients with ESRD by monitoring intracranial pressure before and after hemodialysis sessions using a noninvasive method. Read More

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Ongoing global and regional adaptive evolution of SARS-CoV-2.

Proc Natl Acad Sci U S A 2021 Jul 2;118(29). Epub 2021 Jul 2.

National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD 20894;

Understanding the trends in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) evolution is paramount to control the COVID-19 pandemic. We analyzed more than 300,000 high-quality genome sequences of SARS-CoV-2 variants available as of January 2021. The results show that the ongoing evolution of SARS-CoV-2 during the pandemic is characterized primarily by purifying selection, but a small set of sites appear to evolve under positive selection. Read More

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Online Search Trends Influencing Anti-Coagulation in COVID-19: An Observational Study.

JMIR Form Res 2021 Apr 11. Epub 2021 Apr 11.

Department of Infectious Diseases, Beaumont Hospital, Beaumont Road, Dublin, IE.

Background: Background: Early evidence of Coronavirus Disease (COVID-19) associated coagulopathy disseminated rapidly online during the first months of 2020, followed by clinical debate about how best to manage thrombotic risks in these patients. The rapid online spread of case reports was followed by online interim guidelines, discussions and worldwide online searches for further information. The impact of the global online search trends and online discussion on local approach to coagulopathy in COVID-19 patients has not been studied. Read More

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Changes in complete blood count parameters influenced by endocrine disorders.

Endokrynol Pol 2021 ;72(3):261-270

Department of Endocrinology, Metabolism, and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

Complete blood count is one of the most common diagnostic methods used in everyday practice. Hormonal status is known to affect blood count parameters. The aim of this study is to summarize changes in blood count that may indicate endocrine disorders, based on a literature review. Read More

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January 2021

Therapeutic Effects of Ba-Duan-Jin versus Pregabalin for Fibromyalgia Treatment: Protocol for a Randomized Controlled Trial.

Rheumatol Ther 2021 Jul 22. Epub 2021 Jul 22.

Department of Rheumatology, Guang'anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

Introduction: Fibromyalgia is characterized by multi-focal pain and is associated with fatigue, unrefreshing sleep and psychological impairment. Pregabalin is one of the most frequently used agents in fibromyalgia treatment. However, it has failed to demonstrate benefit over placebo for reducing fatigue and psychological impairment, and may cause adverse effects (e. Read More

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Patient-reported outcomes, sociodemographic and clinical factors are associated with 1-year mortality in patients with ischemic heart disease-findings from the DenHeart cohort study.

Qual Life Res 2021 Jul 22. Epub 2021 Jul 22.

Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Purpose: In patients with ischemic heart disease, the objectives were (1) to explore associations between patient-reported outcomes, sociodemographic, and clinical factors at discharge and 1-year all-cause mortality and (2) to investigate the discriminant predictive performance of the applied patient-reported outcome instruments on 1-year all-cause mortality.

Methods: Data from the Danish national DenHeart cohort study were used. Eligible patients (n = 13,476) were invited to complete a questionnaire-package, of which 7167 (53%) responded. Read More

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Comparison of Hepatotoxicity Associated With New BCR-ABL Tyrosine Kinase Inhibitors vs Imatinib Among Patients With Chronic Myeloid Leukemia: A Systematic Review and Meta-analysis.

JAMA Netw Open 2021 Jul 1;4(7):e2120165. Epub 2021 Jul 1.

School of Life and Pharmaceutical Sciences, Dalian University of Technology, Panjin, China.

Importance: Although BCR-ABL fusion oncoprotein tyrosine kinase inhibitors (BCR-ABL TKIs) can substantially improve the survival rate of chronic myeloid leukemia (CML), they are clinically accompanied by severe hepatotoxicity.

Objective: To compare the relative risk (RR) of hepatotoxicity of new-generation BCR-ABL TKIs with that of imatinib, and to provide an overall assessment of the clinical benefit.

Data Sources: PubMed, Embase, Cochrane library databases, and ClinicalTrials. Read More

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Environmental Correlates of Physical Activity, Sedentary Behavior, and Self-Rated Health in Chronic Obstructive Pulmonary Disease.

J Cardiopulm Rehabil Prev 2021 Jul 20. Epub 2021 Jul 20.

School of Health and Human Performance, Dalhousie University, Halifax, Canada (Drs Stevens and Rainham); Department of Pediatrics, Division of Respirology, Dalhousie University, Halifax, Canada (Dr Stevens); Department of Community Health and Epidemiology, Dalhousie University, Halifax, Canada (Dr Andreou); and Healthy Populations Institute, Dalhousie University, Halifax, Canada (Dr Rainham).

Purpose: Physical activity (PA) predicts important health outcomes in chronic obstructive pulmonary disease (COPD). In the general population, environmental factors have the potential to influence PA; however, data are limited in this clinical population. Therefore, we sought to investigate associations between the environment and PA, sedentary behavior, and self-rated health in COPD. Read More

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Sex differences in conditioned orienting and the role of estradiol in addiction-related behaviors.

Behav Neurosci 2021 Jul 22. Epub 2021 Jul 22.

Department of Psychology, The University of Texas at Austin.

Conditioned orienting response (OR) is a form of cue-directed behavior thought to indicate increased attentional and/or motivational processing of reward-associated stimuli. OR as a phenotype has been shown to predict both direct drug proclivity in female rats and behaviors indirectly related to drug proclivity in male rats, but no extant research has compared males and females in terms of their OR behavior or its notable substrates. As females are at increased risk for substance abuse, and the ovarian hormone estradiol is often cited as a driving factor for this predilection, it is important to characterize sex differences between males and females and explore what, if any, contribution estradiol has in behaviors which predict substance abuse. Read More

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Genetic variation of rs12918566 affects GRIN2A expression and is associated with spontaneous movement response during sevoflurane anesthesia induction.

Brain Behav 2021 Jul 21:e02165. Epub 2021 Jul 21.

Department of Anesthesiology, Third Xiangya Hospital of Central South University, Changsha, China.

N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the nervous system and are preferentially inhibited by general anesthetics such as sevoflurane. Spontaneous movement is a common complication during sevoflurane anesthesia induction and seriously affects operations. In this study, we investigated the relationship between NMDA polymorphisms and spontaneous movement during sevoflurane induction. Read More

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Interrogating the impact of combination antiretroviral therapies on HIV-associated neurocognitive disorders.

Ishta Sharma

HIV Med 2021 Jul 21. Epub 2021 Jul 21.

St John's College, University of Oxford, Oxford, UK.

Objectives: Although the advent of Combination Antiretroviral Therapy (cART) has greatly reduced the prevalence of HIV-Associated Dementia, the most severe form of HIV-Associated Neurocognitive Disorder (HAND), the incidence of the milder forms of HAND have risen. The explanations proposed include persistent central nervous system (CNS) viraemia and the neurotoxicity of chronic cART regimens. Nonetheless, controversies in HAND prevalence estimates, alongside a lack of consensus on the significance of CNS Penetration Effectiveness (CPE) have added to the complexity of elucidating the role of cART in HAND. Read More

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Characteristics of children diagnosed with type 1 diabetes before vs after 6 years of age in the TEDDY cohort study.

Diabetologia 2021 Jul 22. Epub 2021 Jul 22.

National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD, USA.

Aims/hypothesis: Prognostic factors and characteristics of children diagnosed with type 1 diabetes before 6 years of age were compared with those diagnosed at 6-13 years of age in the TEDDY study.

Methods: Genetically high-risk children (n = 8502) were followed from birth for a median of 9.9 years; 328 (3. Read More

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Tobacco Use Among 1 310 716 Women of Reproductive age (15-49 Years) in 42 Low- and Middle-Income Countries: Secondary Data Analysis From the 2010-2016 Demographic and Health Surveys.

Nicotine Tob Res 2021 Jul 22. Epub 2021 Jul 22.

Department of Health Sciences, University of York, Heslington, York, UK.

Introduction: Tobacco use among women, especially during pregnancy is a public health concern. There is a need to understand the diverse nature of their tobacco consumption across the globe.

Methods: We used Demographic and Health Surveys (DHS) data collected between 2010 and 2016 from 42 low- and middle-income countries (LMICs) to estimate the prevalence of smoking, smokeless tobacco, and dual use among pregnant and non-pregnant women of reproductive age (15-49 y). Read More

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Characteristics of normal human retinal pigment epithelium cells with extremes of autofluorescence or intracellular granule count.

Ann Eye Sci 2021 Mar 15;6. Epub 2021 Mar 15.

Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.

Background: Cells of the retinal pigment epithelium (RPE) accumulate different kinds of granules (lipofuscin, melanolipofuscin, melanosomes) within their cell bodies, with lipofuscin and melanolipofuscin being autofluorescent after blue light excitation. High amounts of lipofuscin granules within the RPE have been associated with the development of RPE cell death and age-related macular degeneration (AMD); however, this has not been confirmed in histology so far. Here, based on our previous dataset of RPE granule characteristics, we report the characteristics of RPE cells from human donor eyes that show either high or low numbers of intracellular granules or high or low autofluorescence (AF) intensities. Read More

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Targeting the Host Response: Can We Manipulate Extracellular Matrix Metalloproteinase Activity to Improve Influenza Virus Infection Outcomes?

Front Mol Biosci 2021 5;8:703456. Epub 2021 Jul 5.

Faculty of Health, School of Medicine, Deakin University, Geelong, VIC, Australia.

Each year, hundreds of thousands of individuals succumb to influenza virus infection and its associated complications. Several preventative and therapeutic options may be applied in order to preserve life. These traditional approaches include administration of seasonal influenza vaccines, pharmacological interventions in the form of antiviral drug therapy and supportive clinical approaches including mechanical ventilation and extracorporeal membrane oxygenation. Read More

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Quality of life in ambulatory pulmonary arterial hypertension in connective tissue diseases and its relationship with risk stratification.

Pulm Circ 2021 Jul-Sep;11(3):20458940211029899. Epub 2021 Jul 11.

Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.

The Pulmonary Arterial Hypertension Symptoms and Impact Questionnaire (PAH-SYMPACT) is a PAH-specific patient-reported outcome scale assessing patients' quality of life from four aspects: cardiopulmonary symptoms, cardiovascular symptoms, physical impacts and cognitive/emotional impacts. This study aimed to validate the Chinese version of PAH-SYMPACT and explore its relationship with risk stratification in patients with connective tissue disease-associated pulmonary arterial hypertension (CTD-PAH). In addition, 75 patients with CTD-PAH confirmed by right heart catheterization were invited to complete questionnaires including PAH-SYMPACT, the 36-item Medical Outcomes Study Short Form Survey (SF-36) and EuroQol five dimensions questionnaire (EQ-5D). Read More

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A Catalog of Human Genes Associated With Pathozoospermia and Functional Characteristics of These Genes.

Front Genet 2021 5;12:662770. Epub 2021 Jul 5.

The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

Genetic causes of the global decline in male fertility are among the hot spots of scientific research in reproductive genetics. The most common way to evaluate male fertility in clinical trials is to determine semen quality. Lower semen quality is very often accompanied by subfertility or infertility, occurs in many diseases and can be caused by many factors, including genetic ones. Read More

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ST6GAL1 and α2-6 Sialylation Regulates IL-6 Expression and Secretion in Chronic Obstructive Pulmonary Disease.

Front Immunol 2021 5;12:693149. Epub 2021 Jul 5.

Division of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, The University of Alabama at Birmingham, Birmingham, AL, United States.

Chronic obstructive pulmonary disease (COPD) is a systemic disease strongly associated with cigarette smoking, airway inflammation, and acute disease exacerbations. Changes in terminal sialylation and fucosylation of asparagine (N)-linked glycans have been documented in COPD, but the role that glycosyltransferases may play in the regulation of N-linked glycans in COPD has not been fully elucidated. Recent studies suggest that modulation of ST6GAL1 (ST6 beta-galactoside alpha-2,6-sialyltransferase-1), which catalyzes terminal α2-6 sialylation of cellular proteins, may regulate inflammation and contribute to COPD phenotype(s). Read More

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Function Follows Form: Using the Aesthetic Association Principle to Enhance Haptic Interface Design.

Front Psychol 2021 5;12:646986. Epub 2021 Jul 5.

Bamberg Graduate School of Affective and Cognitive Sciences (BaGrACS), Bamberg, Germany.

Novel tangible user interface technologies facilitate current trends toward seamless user interfaces. They enable the design of yet unseen interfaces and thus the creation of a new kind of haptic language. In order to use the benefits of a touch-and-feel design for a positive user experience, carefully designed haptic feedback plays an important role by providing aesthetically pleasing and sustainable product features. Read More

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Hypoxia-Inducible Factor Regulates Endothelial Metabolism in Cardiovascular Disease.

Front Physiol 2021 5;12:670653. Epub 2021 Jul 5.

Biological Sciences Division, Department of Medicine, University of Chicago, Chicago, IL, United States.

Endothelial cells (ECs) form a physical barrier between the lumens and vascular walls of arteries, veins, capillaries, and lymph vessels; thus, they regulate the extravasation of nutrients and oxygen from the circulation into the perivascular space and participate in mechanisms that maintain cardiovascular homeostasis and promote tissue growth and repair. Notably, their role in tissue repair is facilitated, at least in part, by their dependence on glycolysis for energy production, which enables them to resist hypoxic damage and promote angiogenesis in ischemic regions. ECs are also equipped with a network of oxygen-sensitive molecules that collectively activate the response to hypoxic injury, and the master regulators of the hypoxia response pathway are hypoxia-inducible factors (HIFs). Read More

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The combined detection of Amphiregulin, Cyclin A1 and DDX20/Gemin3 expression predicts aggressive forms of oral squamous cell carcinoma.

Br J Cancer 2021 Jul 21. Epub 2021 Jul 21.

Oral and Maxillofacial Pathology Department, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.

Background: Large-scale genetic and epigenetic deregulations enable cancer cells to ectopically activate tissue-specific expression programmes. A specifically designed strategy was applied to oral squamous cell carcinomas (OSCC) in order to detect ectopic gene activations and develop a prognostic stratification test.

Methods: A dedicated original prognosis biomarker discovery approach was implemented using genome-wide transcriptomic data of OSCC, including training and validation cohorts. Read More

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A new immunochemical strategy for triple-negative breast cancer therapy.

Sci Rep 2021 Jul 21;11(1):14875. Epub 2021 Jul 21.

Department of Chemistry, The Scripps Research Institute, La Jolla, CA, 92037, USA.

Triple-negative breast cancer (TNBC) is a highly diverse group of malignant neoplasms which tend to have poor outcomes, and the development of new targets and strategies to treat these cancers is sorely needed. Antibody-drug conjugate (ADC) therapy has been shown to be a promising targeted therapy for treating many cancers, but has only rarely been tried in patients with TNBC. A major reason the efficacy of ADC therapy in the setting of TNBC has not been more fully investigated is the lack of appropriate target molecules. Read More

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The effects of positive or negative self-talk on the alteration of brain functional connectivity by performing cognitive tasks.

Sci Rep 2021 Jul 21;11(1):14873. Epub 2021 Jul 21.

Institute of Behavioral Science in Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Republic of Korea.

Self-talk can improve cognitive performance, but the underlying mechanism of such improvement has not been investigated. This study aimed to elucidate the effects of self-talks on functional connectivity associated with cognitive performance. We used the short form of Progressive Matrices Test (sRPM) to measure differences in performance improvements between self-respect and self-criticism. Read More

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