2,627 results match your criteria unexpected variation

Discovery of genomic variation across a generation.

Hum Mol Genet 2021 Jul 22. Epub 2021 Jul 22.

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Over the past thirty years (the timespan of a generation), advances in genomics technologies have revealed tremendous and unexpected variation in the human genome and have provided increasingly accurate answers to long-standing questions of how much genetic variation exists in human populations and to what degree the DNA complement changes between parents and offspring. Tracking the characteristics of these inherited and spontaneous (or de novo) variations has been the basis of the study of human genetic disease. From genome-wide microarray and next-generation sequencing scans, we now know that each human genome contains over 3 million single nucleotide variants when compared to the ~ 3 billion base pairs in the human reference genome, along with roughly an order of magnitude more DNA-approximately 30 megabase pairs (Mb)-being 'structurally variable', mostly in the form of indels and copy number changes. Read More

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Adaptive Variation of Endosymbiont Density in Aphid Host Controlled by Environmental Conditions.

ACS Omega 2021 Jul 6;6(28):17902-17914. Epub 2021 Jul 6.

ISA, Université Côte d'Azur, INRA, CNRS, 06903 Sophia Antipolis, France.

The scarcity of transcriptional regulatory genes in , an obligate endosymbiont in aphids, suggests the stability of expressed gene patterns and metabolic pathways. This observation argues in favor of the hypothesis that this endosymbiont bacteria might contribute little to the host adaptation when aphid hosts are facing challenging fluctuating environment. Finding evidence for the increased expression or silenced genes involved in metabolic pathways under the pressure of stress conditions and/or a given environment has been challenging for experimenters with this bacterial symbiotic model. Read More

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Changes in treatment needs for chronic postoperative hypoparathyroidism during initiation of conventional treatment compared to stable phase of treatment.

Endocrinol Diabetes Metab 2021 Jul 1;4(3):e00269. Epub 2021 Jun 1.

Department of Endocrinology and Internal Medicine Aarhus University Hospital, Palle Juul-Jensens Boulevard Aarhus Denmark.

Introduction: In our clinical experience, need for doses of active vitamin D and calcium supplements changes during the period following a diagnosis of postsurgical hypoparathyroidism (HypoPT), but only sparse data are available. In the present study, we aimed to investigate the magnitude of changes in need for activated vitamin D (alfacalcidol) and calcium supplements during initiation of therapy as well as time to be expected until a stable phase was achieved. Furthermore, we determined the frequency of (unexpected) episodes of hypo- and hypercalcaemia after reaching a steady state for alfacalcidol and calcium. Read More

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Stomatal development in the cycad family Zamiaceae.

Ann Bot 2021 Jul 15. Epub 2021 Jul 15.

Royal Botanic Gardens, Kew, Richmond, UK.

Background And Aims: The gymnosperm order Cycadales is pivotal for our understanding of seed-plant phylogeny because of its phylogenetic placement close to the root node of extant spermatophytes and its combination of both derived and plesiomorphic character states. Although widely considered a 'living fossil' group, extant cycads display a high degree of morphological and anatomical variation. We investigate stomatal development in Zamiaceae to evaluate variation within the order and homologies between cycads and other seed plants. Read More

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Genotyping of Ascaris spp. infecting humans and pigs in Italy, Slovakia and Colombia.

Infect Genet Evol 2021 Jul 10;94:104997. Epub 2021 Jul 10.

Department of Public Health and Infectious Diseases, Section of Parasitology, Sapienza University of Rome, Rome, Italy. Electronic address:

Background: The systematics and taxonomy of Ascaris lumbricoides and Ascaris suum, two of the world's most widespread nematodes, still represent a highly debated scientific issue. Two different transmission scenarios have been described according to endemicity: separated host-specific transmission cycles in endemic regions, and a single pool of infection shared by humans and pigs in non-endemic regions. The swine roundworm A. Read More

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Challenging Disease Ontology by Instances of Atypical and Genetics.

Front Genet 2021 25;12:682565. Epub 2021 Jun 25.

Department of Endocrinology, Nephrology and Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (/) or biallelic () germline variation. Clinical presentations are genotype-dependent ranging from fetal demise to mild chronic kidney disease (CKD) in adults. Additionally, exemptions from dominant and recessive inheritance have been reported in both disorders resulting in respective phenocopies. Read More

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Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation.

Exp Biol Med (Maywood) 2021 Jul 7:15353702211018970. Epub 2021 Jul 7.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Current understanding of the underlying molecular network and mechanism for attention-deficit hyperactivity disorder (ADHD) is lacking and incomplete. Previous studies suggest that genomic structural variations play an important role in the pathogenesis of ADHD. For effective modeling, deep learning approaches have become a method of choice, with ability to predict the impact of genetic variations involving complicated mechanisms. Read More

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Detecting Emotional Evolution on Twitter during the COVID-19 Pandemic Using Text Analysis.

Int J Environ Res Public Health 2021 06 29;18(13). Epub 2021 Jun 29.

Data Science Laboratory, Rey Juan Carlos University, 28933 Móstoles, Spain.

Early in 2020, an unexpected and hazardous situation occurred threatening and challenging all of humankind. A new coronavirus called SARS-CoV-2 was first identified in Wuhan, China, and its related disease, called COVID-19, has induced one of the most dangerous crises at a global level since World War II. The ultra-fast transmission rate of the virus and the high mortality rate led the World Health Organization (WHO) to officially declare the situation a pandemic. Read More

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Genome Size, Chromosome Number and Morphological Data Reveal Unexpected Infraspecific Variability in (Poaceae).

Genes (Basel) 2021 Jun 11;12(6). Epub 2021 Jun 11.

Department of Botany, Ecology and Plant Physiology, Rabanales Campus, University of Cordoba, 14071 Cordoba, Spain.

Polyploidy has played an important evolutionary role in the genus (Poaceae), and several ploidy levels (ranging from 2n = 2 = 14 to 2n = 12 = 84) have been detected to date. This study aimed to estimate the genome size and ploidy level of two subspecies belonging to the polyploid complex by flow cytometry and chromosome counting. The phenotypic variation of the cytotypes was also explored, based on herbarium material. Read More

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Variations in origin of the superior thyroid artery: an update for the head and neck surgeon.

Ann R Coll Surg Engl 2021 Jul;103(7):e238-e239

Luton and Dunstable University Hospital, UK.

Head and neck surgeons must have a thorough knowledge of head and neck vascular anatomy and its variations. This case report documents a variation in the superior thyroid artery encountered during a neck dissection and discusses the surrounding literature. A 55-year-old female with squamous cell carcinoma of the tongue underwent a partial glossectomy, right level I-IV neck dissection and reconstruction with a radial forearm free flap. Read More

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Revealing the Chemical Bonding in Adatom Arrays via Machine Learning of Hyperspectral Scanning Tunneling Spectroscopy Data.

ACS Nano 2021 Jun 28. Epub 2021 Jun 28.

Center for Nanophase Materials Sciences, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831, United States.

The adatom arrays on surfaces offer an ideal playground to explore the mechanisms of chemical bonding via changes in the local electronic tunneling spectra. While this information is readily available in hyperspectral scanning tunneling spectroscopy data, its analysis has been considerably impeded by a lack of suitable analytical tools. Here we develop a machine learning based workflow combining supervised feature identification in the spatial domain and unsupervised clustering in the energy domain to reveal the details of structure-dependent changes of the electronic structure in adatom arrays on the CoSnS cleaved surface. Read More

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Genomic consequences of human-mediated translocations in margin populations of an endangered amphibian.

Evol Appl 2021 Jun 25;14(6):1623-1634. Epub 2021 Mar 25.

Unit of Evolutionary Biology/Systematic Zoology Institute for Biochemistry and Biology University of Potsdam Potsdam Germany.

Due to their isolated and often fragmented nature, range margin populations are especially vulnerable to rapid environmental change. To maintain genetic diversity and adaptive potential, gene flow from disjunct populations might therefore be crucial to their survival. Translocations are often proposed as a mitigation strategy to increase genetic diversity in threatened populations. Read More

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Breeding responses to environmental variation are age- and trait-dependent in female Nazca boobies.

Ecology 2021 Jun 24:e03457. Epub 2021 Jun 24.

Biology Department, Wake Forest University, Winston-Salem, North Carolina, USA.

Age and environment are important determinants of reproductive parameters in long-lived organisms. These factors may interact to determine breeding responses to environmental change, yet few studies have examined the environmental dependence of aging patterns across the entire life span. We do so, using a 20-yr longitudinal data set of reproductive phenotypes in long-lived female Nazca boobies (Sula granti), a monogamous seabird breeding in the eastern tropical Pacific. Read More

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A one-year study of human milk oligosaccharide profiles in the milk of healthy UK mothers and their relationship to maternal FUT2 genotype.

Glycobiology 2021 Jun 15. Epub 2021 Jun 15.

Department of Food Science and Technology, University of California, Davis, USA.

Human milk oligosaccharides (HMOs) are indigestible carbohydrates with prebiotic, pathogen decoy, and immunomodulatory activities that are theorized to substantially impact infant health. The objective of this study was to monitor HMO concentrations over one year to develop a long-term longitudinal dataset. HMO concentrations in the breast milk of healthy lactating mothers of the Cambridge Baby Growth and Breastfeeding Study (CBGS-BF) were measured at birth, 2 weeks, 6 weeks, 3 months, 6 months and 12 months postpartum. Read More

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Case Report: Identification of Novel Variants in and Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.

Front Genet 2021 31;12:650639. Epub 2021 May 31.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, LR16IPT05, Université Tunis ElManar, Tunis, Tunisia.

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces cutaneous disorders such as severe sunburn, freckling and cancers. In Tunisia, six complementation groups have been already identified. Read More

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Correlation analysis of materials properties by machine learning: illustrated with stacking fault energy from first-principles calculations in dilute fcc-based alloys.

J Phys Condens Matter 2021 Jun 14;33(29). Epub 2021 Jun 14.

Department of Materials Science and Engineering, The Pennsylvania State University, University Park, PA, 16802, United States of America.

Advances in machine learning (ML), especially in the cooperation between ML predictions, density functional theory (DFT) based first-principles calculations, and experimental verification are emerging as a key part of a new paradigm to understand fundamentals, verify, analyze, and predict data, and design and discover materials. Taking stacking fault energy () as an example, we perform a correlation analysis ofin dilute Al-, Ni-, and Pt-based alloys by descriptors and ML algorithms. Thesevalues were predicted by DFT-based alias shear deformation approach, and up to 49 elemental descriptors and 21 regression algorithms were examined. Read More

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Delivering the unexpected-Information needs for PSA screening from Men's perspective: A qualitative study.

Health Expect 2021 Jun 7. Epub 2021 Jun 7.

Department of General Practice/Family Medicine, Philipps-University Marburg, Marburg, Germany.

Background: Making decisions about PSA screening tests is challenging, as it requires both knowledge of the possible benefits and harms of screening and an individual assessment of the patient's values. Our research explores how much and what information men perceive to be necessary with regard to screening for prostate cancer.

Objective: To explore men's information and associated needs for decision making in PSA testing. Read More

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Changes in Reproductive Traits in ; An Unexpected Shift Toward Self-Incompatibility in a Domesticated Annual Fruit Crop.

Front Plant Sci 2021 21;12:658406. Epub 2021 May 21.

Departamento de Botánica y Zoología, Instituto de Botánica, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, Zapopan, Mexico.

Domestication is an evolutionary process with an impact on plant reproduction. Many domesticated plants are self-compatible (i.e. Read More

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Methods for interpolating missing data in aerobiological databases.

Environ Res 2021 May 28;200:111391. Epub 2021 May 28.

University of Castilla-La Mancha, Institute of Environmental Sciences (Botany), Toledo, Spain; Department of Pharmacology, Pharmacognosy and Botany, Complutense University, Madrid, Spain.

Missing data is a common problem in scientific research. The availability of extensive environmental time series is usually laborious and difficult, and sometimes unexpected failures are not detected until samples are processed. Consequently, environmental databases frequently have some gaps with missing data in it. Read More

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Multi-scale temporal variation in bird-window collisions in the central United States.

Sci Rep 2021 May 26;11(1):11062. Epub 2021 May 26.

Department of Natural Resource Ecology and Management, Oklahoma State University, 008C Ag Hall, Stillwater, OK, 74078, USA.

Expansion of urbanization and infrastructure associated with human activities has numerous impacts on wildlife including causing wildlife-structure collisions. Collisions with building windows represent a top bird mortality source, but a lack of research into timing of these collisions hampers efforts to predict them and mitigate effects on avian populations. In Stillwater, Oklahoma, USA, we investigated patterns of bird-window collisions at multiple temporal scales, from within-day to monthly and seasonal variation. Read More

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Impact of COVID-19 Testing Strategies and Lockdowns on Disease Management Across Europe, South America, and the United States: Analysis Using Skew-Normal Distributions.

Stefano De Leo

JMIRx Med 2021 Apr-Jun;2(2):e21269. Epub 2021 Apr 21.

Department of Applied Mathematics State University of Campinas Campinas Brazil.

Background: As COVID-19 infections worldwide exceed 6 million confirmed cases, the data reveal that the first wave of the outbreak is coming to an end in many European countries. There is variation in the testing strategies (eg, massive testing vs testing only those displaying symptoms) and the strictness of lockdowns imposed by countries around the world. For example, Brazil's mitigation measures lie between the strict lockdowns imposed by many European countries and the more liberal approach taken by Sweden. Read More

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Ultra-short heart rate variability reliability for cardiac autonomic tone assessment in mesial temporal lobe epilepsy.

Epilepsy Res 2021 Aug 8;174:106662. Epub 2021 May 8.

Center for Applied Neuroscience, University Hospital (HU), UFSC, Florianópolis, SC, Brazil; Graduate Program in Neuroscience, UFSC, Florianópolis, SC, Brazil; Neurology Division, Department of Internal Medicine, University Hospital, UFSC, Florianópolis, SC, Brazil; Graduate Program in Medical Sciences, UFSC, Florianópolis, Brazil; Center for Epilepsy Surgery of Santa Catarina (CEPESC), HU, UFSC, Florianópolis, SC, Brazil. Electronic address:

Autonomic dysfunction in epilepsy is well-described. Heart rate variability (HRV) is a useful method to evaluate autonomic cardiac tone. Cardiac dysfunction may be involved in sudden unexpected death in epilepsy (SUDEP). Read More

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The stabilizing function of the tail during arboreal quadrupedalism.

Integr Comp Biol 2021 May 22. Epub 2021 May 22.

Department of Anthropology, University of Texas at Austin, Austin, TX, 78712.

Locomotion on the narrow and compliant supports of the arboreal environment is inherently precarious. Previous studies have identified a host of morphological and behavioral specializations in arboreal animals broadly thought to promote stability when on precarious substrates. Less well-studied is the role of the tail in maintaining balance. Read More

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An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.

Genome Med 2021 05 17;13(1):83. Epub 2021 May 17.

Department of Molecular Genetics and Microbiology, School of Medicine, Duke University, 0049 CARL Building Box 3053, 213 Research Drive, Durham, NC, 27710, USA.

Background: While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challenge. Methods are needed to systematically bridge this crucial gap to facilitate experimental testing of hypotheses and translation to clinical utility.

Results: Here, we leveraged cross-phenotype associations to identify traits with shared genetic architecture, using linkage disequilibrium (LD) information to accurately capture shared SNPs by proxy, and calculate significance of enrichment. Read More

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[Left Upper Lung Cancer with Mediastinal Inferior Lober Branch of Pulmonary Artery].

Kyobu Geka 2021 Feb;74(2):112-115

Department of Thoracic Surgery, Kansai Medical University, Hirakata, Japan.

We herein report a rare case of an antero-basal pulmonary artery that was noticed during left upper lung lobectomy. A 61-year-old man underwent surgery and radiation for a brain tumor, which was diagnosed as a solitary metastasis of the primary lung cancer in the upper lobe of the left lung. He underwent left upper lobectomy for the lung cancer. Read More

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February 2021

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.

Mol Diagn Ther 2021 May 5;25(3):373-385. Epub 2021 May 5.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron Cedex, 69677, Lyon, France.

Background And Objective: Molecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical heterogeneity. We present a detailed molecular investigation of a cohort of 4185 patients with referrals for inherited cardiac diseases.

Methods: Patients suffering from cardiomyopathies (3235 probands), arrhythmia syndromes (760 probands), or unexplained sudden cardiac arrest (190 cases) were analyzed using a next-generation sequencing (NGS) workflow based on a panel of 105 genes involved in sudden cardiac death. Read More

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Regional microglial populations in central autonomic brain regions in SUDEP.

Epilepsia 2021 Jun 4;62(6):1318-1328. Epub 2021 May 4.

Departments of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.

Objective: Sudden unexpected death in epilepsy (SUDEP) may arise as a result of autonomic dysfunction during a seizure. The central autonomic networks (CANs) modulate brainstem cardiorespiratory regulation. Recent magnetic resonance imaging (MRI) studies in SUDEP have shown cortical and subcortical volume changes and altered connectivity between CAN regions, but the pathological correlate is unknown. Read More

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Probing Multiscale Factors Affecting the Reactivity of Nanoparticle-Bound Molecules.

ACS Nano 2021 05 3;15(5):8295-8305. Epub 2021 May 3.

EaStCHEM School of Chemistry, University of St Andrews, North Haugh, St Andrews, KY16 9ST, U.K.

The structures and physicochemical properties of surface-stabilizing molecules play a critical role in defining the properties, interactions, and functionality of hybrid nanomaterials such as monolayer-stabilized nanoparticles. Concurrently, the distinct surface-bound interfacial environment imposes very specific conditions on molecular reactivity and behavior in this setting. Our ability to probe hybrid nanoscale systems experimentally remains limited, yet understanding the consequences of surface confinement on molecular reactivity is crucial for enabling predictive nanoparticle synthon approaches for postsynthesis engineering of nanoparticle surface chemistry and construction of devices and materials from nanoparticle components. Read More

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Evolution mechanism of transition metal in NH-SCR reaction over Mn-based bimetallic oxide catalysts: Structure-activity relationships.

J Hazard Mater 2021 Jul 9;413:125361. Epub 2021 Feb 9.

Department of Environmental Engineering, University of Science and Technology Beijing, Beijing 100083, China; Beijing Key Laboratory of Resource-oriented Treatment of Industrial Pollutants, Beijing 100083, China. Electronic address:

The unexpected phenomenon in which different transition metals (Co, Ni and Cu) presented significant variation of participation levels as the auxiliaries in Mn-based bimetallic oxide catalysts were reported here. It is found that the Co element more easily to form Mn enriched surface bimetallic oxides with Mn than Ni and Cu, resulting in Co-MnO exhibited the best deNO activity and SO tolerance, followed by Ni-MnO and Cu-MnO. The role of different transition metal and structure-activity relationships were systematically investigated by advanced techniques including Synchrotron XAFS and in situ DRIFTs analysis. Read More

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Technical Note: Effects of Makeshift Storage in Different Liquors on Larvae of the Blowflies and (Diptera: Calliphoridae).

Insects 2021 Apr 1;12(4). Epub 2021 Apr 1.

Department of Forensic Entomology, Institute of Legal Medicine at the University Hospital Jena, 07740 Jena, Germany.

Unexpected findings of forensically important insects might prompt makeshift storage in alternative liquids if the proper equipment is lacking. The assessment of whether such evidence can still be used and correctly interpreted can be difficult. In this study, the effects of using alcoholic beverages as storing agents for post-feeding larvae of and were analyzed. Read More

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