scholarly journals Gene-Centric Database Reveals Environmental and Lifestyle Relationships for Potential Risk Modification and Prevention

2021 ◽  
Vol 14 (1) ◽  
pp. 30-36
Author(s):  
Ron L. Martin
Keyword(s):  
Potential Risk ◽  
Genetic Variants ◽  
Human Genetics ◽  
Controlled Vocabulary ◽  
Health Conditions ◽  
Article Title ◽  
Risk Effect ◽  
Standardized Terminology ◽  
Risk Modification

The database at Nutrigenetics.net has been under development since 2007 to facilitate the identification and classification of PubMed articles relevant to human genetics. A controlled vocabulary (i.e., standardized terminology) is used to index these records, with links back to PubMed for every article title. This enables the display of indexes (alphabetical subtopic listings) for any given topic, or for any given combination of topics, including for genes and specific genetic variants. Stepwise use of such indexes (first for one topic, then for combinations of topics) can reveal relationships that are otherwise easily overlooked. These relationships include environmental and lifestyle variables with potential relevance to risk modification (both beneficial and detrimental), and to prevention, or at least to the potential delay of symptom onset for health conditions like Alzheimer disease among many others. Thirty-four specific genetic variants have each been mentioned in at least ≥1,000 PubMed titles/abstracts, and these numbers are steadily increasing. The benefits of indexing with standardized terminology are illustrated for genetic variants like MTHFR 677C-T and its various synonyms (e.g., rs1801133 or Ala222Val). Such use of a controlled vocabulary is also helpful for numerous health conditions, and for potential risk modifiers (i.e., potential risk/effect modifiers).

Classification of Potential Risk Factors through HIRARC Method in Assessing Indoor Environment of Museums

2018 ◽  
Vol 10 (8) ◽  
Author(s):  
Syahrun Neizam Mohd Dzulkifli ◽  
◽  
Abd Halid Abdullah ◽  
Yee Yong Lee ◽  
Mohd Mahathir Suhaimi Shamsuri ◽  
...  
Keyword(s):  
Risk Factors ◽  
Potential Risk ◽  
Indoor Environment ◽  
Potential Risk Factors

scholarly journals A pilot comparison of medical records sensitivity perspectives of patients with behavioral health conditions and healthcare providers

2021 ◽  
Vol 27 (2) ◽  
pp. 146045822110099
Author(s):  
Hiral Soni ◽  
Julia Ivanova ◽  
Adela Grando ◽  
Anita Murcko ◽  
Darwyn Chern ◽  
...  
Keyword(s):  
Mental Health ◽  
Drug Abuse ◽  
Behavioral Health ◽  
Health Information ◽  
Healthcare Providers ◽  
Health Conditions ◽  
Mixed Methods Approach ◽  
Record Data ◽  
Category Labels

This pilot study compares medical record data sensitivity (e.g., depression is sensitive) and categorization perspective (e.g., depression categorized as mental health information) of patients with behavioral health conditions and healthcare providers using a mixed-methods approach employing patient’s own EHR. Perspectives of 25 English- and Spanish-speaking patients were compared with providers. Data categorization comparisons resulted in 66.3% agreements, 14.5% partial agreements, and 19.3% disagreements. Sensitivity comparisons obtained 54.5% agreement, 11.9% partial agreement, and 33.6% disagreements. Patients and providers disagreed in classification of genetic data, mental health, drug abuse, and physical health information. Factors influencing patients’ sensitivity determination were sensitive category comprehension, own experience, stigma towards category labels (e.g., drug abuse), and perception of information applicability (e.g., alcohol dependency). Knowledge of patients’ sensitivity perceptions and reconciliation with providers could expedite the development of granular and personalized consent technology.

Test genetici e consenso informato

2012 ◽  
pp. 68-95
Author(s):  
Marco Seri ◽  
Claudio Graziano ◽  
Daniela Turchetti ◽  
Juri Monducci
Keyword(s):  
Dna Sequencing ◽  
Human Genetics ◽  
Ethical Issues ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Genome Project ◽  
Ethical Challenges ◽  
Sequencing Technologies ◽  
The Human Genome Project

The pace of discovery in the field of human genetics has increased exponentially in the last 30 years. We have witnessed the completion of the Human Genome Project, the identification of hundreds of disease-causing genes, and the dawn of genomic medicine (clinical care based on genomic information). Reduction of DNA sequencing costs, thanks to the so-called "next generation sequencing" technologies, is driving a shift towards the era of "personal genomes", but scientific as well as ethical challenges ahead are countless. We provide an overview on the classification of genetic tests, on informed consent procedures in the context of genetic counseling, and on specific ethical issues raised by the implementation of new DNA sequencing technologies.

scholarly journals Predicting the effect of statins on cancer risk using genetic variants from a Mendelian randomization study in the UK Biobank

eLife ◽  
2020 ◽  
Vol 9 ◽  
Author(s):  
Paul Carter ◽  
Mathew Vithayathil ◽  
Siddhartha Kar ◽  
Rahul Potluri ◽  
Amy M Mason ◽  
...  
Keyword(s):  
Standard Deviation ◽  
Cancer Risk ◽  
Genetic Variants ◽  
Ldl Cholesterol ◽  
Human Genetics ◽  
Density Lipoprotein ◽  
Lipid Lowering ◽  
Uk Biobank ◽  
Standard Deviation Increase ◽  
The Uk

Laboratory studies have suggested oncogenic roles of lipids, as well as anticarcinogenic effects of statins. Here we assess the potential effect of statin therapy on cancer risk using evidence from human genetics. We obtained associations of lipid-related genetic variants with the risk of overall and 22 site-specific cancers for 367,703 individuals in the UK Biobank. In total, 75,037 individuals had a cancer event. Variants in the HMGCR gene region, which represent proxies for statin treatment, were associated with overall cancer risk (odds ratio [OR] per one standard deviation decrease in low-density lipoprotein [LDL] cholesterol 0.76, 95% confidence interval [CI] 0.65–0.88, p=0.0003) but variants in gene regions representing alternative lipid-lowering treatment targets (PCSK9, LDLR, NPC1L1, APOC3, LPL) were not. Genetically predicted LDL-cholesterol was not associated with overall cancer risk (OR per standard deviation increase 1.01, 95% CI 0.98–1.05, p=0.50). Our results predict that statins reduce cancer risk but other lipid-lowering treatments do not. This suggests that statins reduce cancer risk through a cholesterol independent pathway.

scholarly journals Dry Port: A Review on Concept, Classification, Functionalities and Technological Processes

Logistics ◽  
2020 ◽  
Vol 4 (4) ◽  
pp. 29
Author(s):  
Erica Varese ◽  
Danilo Stefano Marigo ◽  
Mariarosaria Lombardi
Keyword(s):  
Scientific Community ◽  
Keyword Search ◽  
Common Denominator ◽  
Article Title ◽  
Technological Processes ◽  
Structured Approach ◽  
Concept Classification ◽  
Dry Ports ◽  
Classification Function

The purpose of this article is to offer a literature review on the development and classification of inland terminals, later defined as “dry ports”. The aim of the paper is to analyze the extant literature on dry ports focusing on their concept, classification, function and technological processes. The review offers an updated structured approach to what is currently defined as a dry port. To this end, a structured keyword search in major electronic databases has been conducted to find related material. As there are many different names indicating dry ports in European, South East Asian and North American countries, the following keywords were used: “dry port”, “inland terminal”, “freight village” and “interporto/i”. The search was conducted in respect of the article title and text, abstract and keywords. The results show that there is no unanimous consensus concerning cataloguing of terrestrial nodal facilities serving port gateways. “Dry ports” have emerged as fundamental elements of the integration between the sea “system” and the land network. The increased interest in the genesis and development of dry ports has been accompanied by an abundant contribution of the scientific community, originating a thriving literature, which, however, does not find a common denominator.

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