scholarly journals MicroHapDB: a portable and extensible database of all published microhaplotype marker and frequency data

2020 ◽  
Author(s):  
Daniel Standage ◽  
Rebecca Mitchell
Keyword(s):  
Allelic Diversity ◽  
Human Identification ◽  
Published Data ◽  
Frequency Data ◽  
Forensic Dna ◽  
Community Members ◽  
Individual Snps ◽  
Close Proximity ◽  
Population Allele Frequency ◽  
The Individual

ABSTRACTMicrohaplotypes are the subject of significant interest in the forensics community as a promising multi-purpose forensic DNA marker for human identification. Microhaplotype markers are composed of multiple SNPs in close proximity, such that a single NGS read can simultaneously genotype the individual SNPs and phase them in aggregate to determine the associated donor haplotype. Abundant throughout the human genome, numerous recent studies have sought to discover and rank microhaplotype markers according to allelic diversity within and among populations. Microhaplotypes provide an appealing alternative to STR markers for human identification and mixture deconvolution, but can also be optimized for ancestry inference or combined with phenotype SNPs for prediction of externally visible characteristics in a multiplex NGS assay. Designing and evaluating panels of microhaplotypes is complicated by the lack of a convenient database of all published data, as well as the lack of population allele frequency data spanning disparate marker collections. We present MicroHapDB, a comprehensive database of published microhaplotype marker and frequency data, as a tool to advance the development of microhaplotype-based human forensics capabilities. We also present population allele frequencies derived from 26 global population samples for all microhaplotype markers published to date, facilitating the design and interpretation of custom multi-source panels. We submit MicroHapDB as a resource for community members engaged in marker discovery, population studies, assay development, and panel and kit design.

scholarly journals CNV Neurons Are Rare in Aged Human Neocortex

2018 ◽  
Author(s):  
William D. Chronister ◽  
Margaret B. Wierman ◽  
Ian E. Burbulis ◽  
Matthew J. Wolpert ◽  
Mark F. Haakenson ◽  
...  
Keyword(s):  
Copy Number Variants ◽  
Allelic Diversity ◽  
Population Level ◽  
Information Criterion ◽  
Published Data ◽  
Tissue Quality ◽  
Cell Library ◽  
Detection Approach ◽  
Human Neurons ◽  
The Individual

AbstractMegabase-scale somatic copy number variants (CNVs) alter allelic diversity in a subset of human neocortical neurons. Reported frequencies of CNV neurons range from ∼5% of neurons in some individuals to greater than 30% in other individuals. Genome-wide and familial studies implicitly assume a constant brain genome when assessing the genetic risk architecture of neurological disease, thus it is critical to determine whether divergent reports of CNV neuron frequency reflect normal individual variation or technical differences between approaches. We generated a new dataset of over 800 human neurons from 5 neurotypical individuals and developed a computational approach that measures single cell library quality based on Bayesian Information Criterion and identifies integer-like variant segments from population-level statistics. A brain CNV atlas was assembled using our new dataset and published data from 10 additional neurotypical individuals. This atlas reveals that the frequency of neocortical CNV neurons varies widely among individuals, but that this variability is not readily accounted for by tissue quality or CNV detection approach. Rather, the age of the individual is anti-correlated with CNV neuron frequency. Fewer CNV neurons are observed in aged individuals than young individuals.

Neuroblastoma—When are Urinary Catecholamines and Their Metabolites ‘Normal’?

1988 ◽  
Vol 25 (6) ◽  
pp. 620-626 ◽  
Author(s):  
D J Worthington ◽  
E M Hammond ◽  
B B Eldeeb ◽  
A Green ◽  
G M Addison ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
The Other ◽  
Published Data ◽  
Single Test ◽  
Creatinine Concentration ◽  
Urinary Catecholamines ◽  
Clinical Sensitivity ◽  
Reference Limit ◽  
Upper Reference Limit ◽  
The Individual

The overproduction of catecholamines and their metabolites is a well recognised feature of neuroblastoma. Published data are scarce for their urinary excretion in children with neuroblastoma and in ill children in whom this diagnosis may be considered. We have determined a graphical upper reference limit for total catecholamines, total metadrenalines and HMMA in urine, expressed as a ratio to the creatinine concentration, for a group of 174 children with neuroblastoma and 704 hospitalised children with other disorders. This graph has been determined by examining the overlap region between the results for the two groups of children and avoids the irregularities caused by statistical outliers. The sensitivity and specificity of the individual tests indicate that total catecholamines is marginally the best single test to perform when trying to diagnose neuroblastoma, with the best clinical sensitivity being achieved by examining both total catecholamines and HMMA. Only two of the 174 children with neuroblastoma would not have been detected using these two tests. Total metadrenalines did not appear to add any further information and could be dropped from the repertoire in favour of the other two measurements.

PERILAKU BERESIKO DAN FAKTOR PELINDUNG PENGGUNAAN TEMBAKAU SINTETIS PADA KOMUNITAS CJ

2021 ◽  
Vol 3 (2) ◽  
pp. 78-91
Author(s):  
Yunita Anggraeni ◽  
Sitti Muthia Maghfirah Massinai ◽  
Rahma Dilla Arnanda
Keyword(s):  
Protective Factors ◽  
Drug Users ◽  
Protective Factor ◽  
Risk And Protective Factors ◽  
Community Collaboration ◽  
Community Members ◽  
The Social ◽  
The Individual ◽  
Calming Effect ◽  
The Impact

ABSTRACTSynthetic tobacco is a type of drug produced from tobacco mixed with chemical liquids. Synthetic tobacco produces a calming effect, daydreaming, hallucinations, and unconsciousness. In some individuals there is resistance to chemicals, resulting in dizziness, vomiting and unconsciousness. The basic ingredients of tobacco make synthetic tobacco difficult to distinguish from ordinary tobacco. So that the impact on the prevention and eradication of drugs is increasingly difficult. The CJ community is a community of drug users who have used synthetic tobacco for 5 months. This study aimed to determine the risk and protective factors of synthetic tobacco use in the CJ community. This research was a qualitative study on the case of the CJ community with the direct involvement of researchers in the community. The result of the research was an analysis description of the risk and protective factors in the CJ community. Medically dangerous side effects have not been communicated to users in the CJ community. Awareness of the future and responsibility are protective factors that motivate community members to stop using drugs. This research showed that the use of synthetic tobacco type drugs can be more harmful to individuals and the environment. The impact on the individual physically and psychologically will affect the individual's difficulty in interacting with the social environment. There is a need for socialization and education that takes into account various aspects of society so that prevention can take place effectively. The results of the research can become the basis for providing intervention designs with community collaboration as agents of change.Key Word: Synthetic Tobacco, Risk Factor, Protective Factor, Drugs User ABSTRAKTembakau sintetis merupakan jenis narkoba yang dihasilkan dari tembakau yang dicampur dengan cairan kimia. Tembakau sintetis menghasilkan efek tenang, melamun, halusinasi, dan tidak sadarkan diri. Pada beberapa individu terdapat penolakan terhadap zat kimia, berakibat pusing, muntah dan tidak sadarkan diri. Bahan dasar tembakau membuat tembakau sintetis sulit dibedakan dengan tembakau biasa. Sehingga berdampak kepada pencegahan dan pemberantasan narkoba yang semakin sulit. Komunitas CJ merupakan komunitas pengguna narkoba yang sudah menggunakan tembakau sintetis selama 5 bulan. Penelitian ini bertujuan untuk mengetahui risk and protective factor penggunaan tembakau sintetis pada komunitas CJ. Penelitian ini merupakan studi kualitatif pada kasus komunitas CJ dengan keterlibatan langsung peneliti pada komunitas. Hasil penelitian berupa deskripsi analisis dari risk and protective factor pada komunitas CJ. Efek samping yang berbahaya secara medis belum tersosialisasikan kepada para pengguna di komunitas CJ. Kesadaran mengenai masa depan dan tanggung jawab menjadi faktor protektif yang memotivasi anggota komunitas untuk berhenti menggunakan narkoba. Penelitian ini menunjukan bahwa penggunaan narkoba jenis tembakau sintetis dapat lebih berbahaya bagi individu dan lingkungan. Dampak kepada individu secara fisik dan psikologis akan mempengaruhi kesulitan individu berinteraksi dengan lingkungan sosial. Perlu adanya sosialisasi dan edukasi yang memperhatikan berbagai aspek di masyarakat agar pencegahan dapat berlangsung dengan efektif. Hasil penelitian dapat menjadi landasan dalam memberikan rancangan intervensi dengan kolaborasi masyarakat sebagai agen perubahan.Kata Kunci: Tembakau Sintetis, Faktor Risiko, Faktor Protektif, Pengguna Narkoba

Molecular weight determines the frequency of delayed type hypersensitivity reactions to heparin and synthetic oligosaccharides

2005 ◽  
Vol 94 (12) ◽  
pp. 1265-1269 ◽  
Author(s):  
Susanne Alban ◽  
Roland Kaufmann ◽  
Edelgard Lindhoff-Last ◽  
Wolf-Henning Boehncke ◽  
Ralf J. Ludwig ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Heparin Therapy ◽  
Delayed Type Hypersensitivity ◽  
Published Data ◽  
Low Molecular Weight ◽  
Hypersensitivity Reactions ◽  
Type Iv ◽  
Total Data ◽  
The Individual

SummaryEczematous lesions, resulting from type IV sensitizations are well-known and relatively frequent cutaneous adverse effects of s.c. heparin therapy. If anticoagulation is further required intravenous heparin, heparinoids or lepirudin may be used as a substitute. However, these alternatives are not optimal in terms of practicability and/or safety-profiles. As molecular weight of different heparin preparations has repetitively been implied to determine the frequency of sensitization, we hypothesized, that due to its low molecular weight the pentasaccharide fondaparinux may provide a practicable and safe anticoagulant therapy in patients with delayed type hypersensitivity reactions (DTH) to heparin and other oligosaccharides. To test this concept, patients referred for diagnosis of cutaneous reactions after s.c. anticoagulant treatment underwent a series of in vivo skin allergyand challenge-tests with unfractionated heparin, a series of low molecular weight heparins (nadroparin, dalteparin, tinzaparin, enoxaparin and certoparin), the heparinoid danaparoid and the synthetic pentasaccharide fondaparinux. In total, data from twelve patients was evaluated. In accordance with previously published data, we report a high crossreactivity among heparins and heparinoids. In contrast – and in support of our initial hypothesis – sensitization towards the synthetic pentasaccharide fondaparinux was rarely observed. Plotting the cumulative incidence against the determined molecular weight of the individual anticoagulant preparations, shows that molecular weight generally is a key determinant of sensitization towards heparins and other oligosaccharides (r2=0.842, p=0.009). Hence, fondaparinux may be used as a therapeutic alternative in patients with cutaneous DTH relations towards heparin and other polysaccharides.

scholarly journals Subdivision of joint tenure in agricultural communities: customary land rights management in Slovenia

2020 ◽  
Vol 64 (04) ◽  
pp. 508-544
Author(s):  
Marjan Čeh ◽  
Helena Žužel ◽  
Simon Mansutti
Keyword(s):  
Real Estate ◽  
Community Members ◽  
Agricultural Communities ◽  
Agricultural Community ◽  
Agrarian Communities ◽  
Customary Rights ◽  
Land Subdivision ◽  
The Common ◽  
Customary Land ◽  
The Individual

This paper presents the process of real estate reallocation as a mass cadastral subdivision process of agrarian communities’ customary rights. The agricultural communities have existed for centuries and have been jointly owning and using the common land. Such gatherings were developed mainly due to the unique requirements deriving from land use and relief characteristics, such as joint forest management on mountain slopes. The main objective of this research has been to analyse the process of real estate subdivision, which has its legal background in Slovenian legislation. In this paper, the process of cadastral subdivision of land owned by agricultural communities is presented as a mass cadastral land subdivision process: from preparatory work to the new geometric structure of the common land. The cadastral, organisational, and engineering role of the chartered surveying engineer and the surveying company is examined. An aim of the paper is, inter alia, to develop a conceptual model of the process that will serve as a basis for optimisation, for a more just and more efficient distribution of assets among community members. The course of the individual steps of the community established land subdivision is shown with unified modelling language (UML) activity diagrams. As a case study, we have considered the subdivision of the property of the agricultural community of Zgornja Sorica in Slovenia.

scholarly journals The Veterinary Treatment Facility as a Readiness Platform for Veterinary Corps Officers

2021 ◽  
Author(s):  
Sara B Mullaney ◽  
Heather Bayko ◽  
Gerald D Moore ◽  
Hannah E Funke ◽  
Matthew J Enroth ◽  
...  
Keyword(s):  
Public Health ◽  
Animal Health ◽  
Published Data ◽  
Veterinary Services ◽  
Multiple Sources ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Online Readiness ◽  
Representative Random Sample ◽  
The Individual

ABSTRACT Introduction U.S. Army Veterinary Corps provides highly skilled and adaptive veterinary professionals to protect and improve the health of people and animals while enhancing readiness throughout the DOD. Army veterinarians must be trained and credentialed for critical tasks within the animal health and food protection missions across all components. The Veterinary Metrics Division in the U.S. Army Public Health Center’s Veterinary Services and Public Health Sanitation Directorate is responsible for tracking readiness metrics of Army veterinarians and maintains a robust online Readiness Metrics Platform. Readiness targets were developed based on trends in readiness platform data, input of senior veterinary subject matter experts, and feedback from the field. To date, no data have been published describing the cases presented to DOD-owned Veterinary Treatment Facilities (VTFs). Without capturing and codifying the types of cases that present to the VTF and comparing to cases typically encountered during deployments, it is difficult to determine whether the VTF serves as an adequate readiness platform. In this study, we compare a representative random sample of non-wellness VTF patient encounters in garrison to cases reported from two different combat zones to determine if the VTF is a suitable clinical readiness platform. Materials and Methods Multiple data sources, including pre-existing published data and new data extracted from multiple sources, were used. The Iraq 2009-2010 dataset includes data collected from a Medical Detachment, Veterinary Service Support (MDVSS) deployed to Iraq from January 5, 2009 through August 23, 2010. The Iraq 2003-2007 dataset originated from a retrospective cross-sectional survey that included database and medical record abstraction. The Afghanistan 2014-2015 dataset includes data collected from the MDVSS deployed to Afghanistan from June 2014 to March 2015. Working dog veterinary encounter data were manually extracted from monthly and daily clinical reports. Data for the Garrison 2016-2018 dataset were extracted from the Remote Online Veterinary Record. A random representative sample of government-owned animal (GOA) and privately owned animal (POA) encounters seen across all DOD-owned VTFs from June 2016 to May 2018 were selected. Results We found that animals present to the VTF for a wide variety of illnesses. Overall, the top 10 encounter categories (90.3%) align with 84.2%, 92.4%, and 85.9% of all the encounter types seen in the three combat zone datasets. Comparing these datasets identifies potential gaps in readiness training relying solely on the VTF, especially in the areas of traumatic and combat-related injuries. Conclusions Ultimately, the success of the DOD Veterinary Services Animal Health mission depends on both the competence and confidence of the individual Army veterinarian. As the MHS transitions and DOD Veterinary Services continues to transform emphasizing readiness through a public health and prevention-based Army medicine approach, Army veterinarians must strike a delicate balance to continue to provide comprehensive health care to GOAs and POAs in the VTFs. Leaders at all levels must recognize the roles VTFs play in overall public health readiness and disease prevention through the proper appropriation and allocation of resources while fostering the development, confidence, and competence of Army veterinarians training within these readiness platforms.

scholarly journals Extending the reach and impact of management research: a question of legitimacy

2019 ◽  
Vol 1 (2) ◽  
pp. 58-78
Author(s):  
David J. Finch ◽  
John Nadeau ◽  
Bill Foster ◽  
Norm O’Reilly ◽  
Kim Bates ◽  
...  
Keyword(s):  
Strategic Orientation ◽  
Career Stage ◽  
Management Research ◽  
Community Members ◽  
Content Type ◽  
Individual Level ◽  
Sequential Mixed Methods ◽  
Stratified Sample ◽  
The Individual ◽  
External Community

Purpose The issues associated with the production and dissemination of management research have been widely debated amongst administrators, scholars and policymakers for decades. However, few studies to date have examined this issue at the level of the individual scholar. The purpose of this paper is to view a management scholar’s choice of knowledge dissemination (KD) outlets as a legitimacy judgment embedded in their social structure and community norms. Design/methodology/approach To explore this, the authors conduct a sequential mixed-methods study. The study uses qualitative methods, including one-on-one interviews (n=29) and five workshops (n=79) with administrators, management scholars, students and external community members (practitioners and policymakers). In addition, the authors analyzed the KD outcomes of 524 management scholars at seven Canadian universities drawn from a stratified sample of business schools. Findings The results of the research demonstrate the complex interaction between individual scholar-level factors, including socialization (degree type and practitioner experience) and tenure, and the institutional-level factors, such as strategic orientation and accreditation, and how these influence KD judgments. Specifically, the authors find that institutional factors (such as tenure and promotion) are a central predictor of scholarly KD; in contrast, the authors find that individual-level factors including degree, professional experience and career stage influence non-scholarly KD. Originality/value The results suggest that as management scholars face increasing pressure to demonstrate impact beyond academia, it may be more difficult than simply adapting the reward system. Specifically, the authors suggest that administrators and policymakers will have to consider individual factors, including their academic training (including interdisciplinary training), previous practitioner experience and career stage.

scholarly journals Help, hinder, hide and harm: what can we learn from the interactions between Pseudomonas aeruginosa and Staphylococcus aureus during respiratory infections?

Thorax ◽  
2019 ◽  
Vol 74 (7) ◽  
pp. 684-692 ◽  
Author(s):  
Dominique Hope Limoli ◽  
Lucas R Hoffman
Keyword(s):  
Staphylococcus Aureus ◽  
Pseudomonas Aeruginosa ◽  
Respiratory Infections ◽  
Clinical Importance ◽  
Community Members ◽  
Culture Independent ◽  
State Of Research ◽  
The Individual ◽  
Lung Health ◽  
Respiratory Microbiota

Recent studies of human respiratory secretions using culture-independent techniques have found a surprisingly diverse array of microbes. Interactions among these community members can profoundly impact microbial survival, persistence and antibiotic susceptibility and, consequently, disease progression. Studies of polymicrobial interactions in the human microbiota have shown that the taxonomic and structural compositions, and resulting behaviours, of microbial communities differ substantially from those of the individual constituent species and in ways of clinical importance. These studies primarily involved oral and gastrointestinal microbiomes. While the field of polymicrobial respiratory disease is relatively young, early findings suggest that respiratory tract microbiota members also compete and cooperate in ways that may influence disease outcomes. Ongoing efforts therefore focus on how these findings can inform more ‘enlightened’, rational approaches to combat respiratory infections. Among the most common respiratory diseases involving polymicrobial infections are cystic fibrosis (CF), non-CF bronchiectasis, COPD and ventilator-associated pneumonia. While respiratory microbiota can be diverse, two of the most common and best-studied members are Staphylococcus aureus and Pseudomonas aeruginosa, which exhibit a range of competitive and cooperative interactions. Here, we review the state of research on pulmonary coinfection with these pathogens, including their prevalence, combined and independent associations with patient outcomes, and mechanisms of those interactions that could influence lung health. Because P. aeruginosa–S. aureus coinfection is common and well studied in CF, this disease serves as the paradigm for our discussions on these two organisms and inform our recommendations for future studies of polymicrobial interactions in pulmonary disease.

Expression and spatial heterogeneity of dipeptidyl peptidases in endothelial cells of conduct vessels and capillaries

2011 ◽  
Vol 392 (3) ◽  
Author(s):  
Veerle Matheeussen ◽  
Lesley Baerts ◽  
Guido De Meyer ◽  
Gilles De Keulenaer ◽  
Pieter Van der Veken ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Spatial Heterogeneity ◽  
Serine Proteases ◽  
Published Data ◽  
Microvascular Endothelium ◽  
Dipeptidyl Peptidases ◽  
The Individual ◽  
Immunohistochemical Studies

AbstractDipeptidyl peptidase IV (DPPIV)/CD26 is by far the most extensively studied member of the prolyl oligopeptidase family of serine proteases. The discovery of the related enzymes DPP8 and DPP9 necessitates a (re-)evaluation of the DPPIV-like enzymatic activity in cells and organs. In this study, we aimed (1) to investigate the expression of the individual dipeptidyl peptidases in different types of endothelial cells (ECs) and (2) to reconsider published data in relation to our findings. Examination of DPP expression in rat primary ECs of aortic, endocardial and cardiac microvascular origin revealed the presence of DPPIV-like activity in all cell lysates. More than half of this activity could be attributed to DPP8/9. Western blot analysis revealed an abundance of the DPP8 protein as compared to DPP9. The expression of DPPIV and DPP8 was significantly higher in the cardiac microvascular endothelium than in the other ECs, suggesting a more pronounced role of these DPPs in the microvasculature.In situ, DPP activity in ventricular microvasculature was completely inhibited by sitagliptin, indicating that DPPIV is the predominant DPPIV-like enzyme in this organ. By contrast, immunohistochemical studies indicated DPP9 as the predominant DPP in human carotid artery ECs. In conclusion, our results support a highly regulated expression of individual DPPs in ECs, with a spatial heterogeneity in the cardiovascular tree.

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