DNA: Up Close and Personal

2020 ◽  
pp. 133-157
Author(s):  
Alan McHughen

We now look at personal genetics and genomics, especially important with the rise of companies willing to analyze your own DNA (for a small fee, of course), giving you the raw genetic information about yourself and your ancestors. Although we previously learned that DNA is “the same” in all species, we now turn to the individual, you, and explore how your DNA base sequence differs from the DNA base sequence of a bacterium, a liverwort, a chimp, and your weird Uncle Jason. This chapter provides the background to appreciate the specific issues related to medical and health issues, and then genealogical studies, coming up in later chapters. For most people, personal genomics testing involves sending a sample of DNA, in the form of spit or a cheek swab, to a lab. What kind of analyses do the labs perform, and what information do they reveal? In addition to full DNA sequence tests, there’s a whole gamut of other DNA tests, including SNP tests, Y-chromosome tests, mtDNA tests, and more. Your DNA base sequence is a gold mine of information unique to you, and it is entirely yours to discover. Whether you are curious about your medical and health genetics, wish to connect with relatives and build a family tree, or are just fascinated at what information your ancestors provided you, these next chapters will help you dig up the hidden secrets of your own genetic heritage.

1978 ◽  
Vol 27 ◽  
pp. 51-56 ◽  
Author(s):  
Fiorella Shabtai ◽  
Shlomo Bichacho ◽  
Isaac Halbrecht

The negative influence of some insecticides on male fertility has been noted. We report our cytogenetic observations on a group of infertile insecticide workers. Increased chromosomal breakage was a constant finding and the Y chromosome was especially damaged. This may account for impaired spermatogenesis. Furthermore, the involvement of heterochromatic chromosomal variants both in the individual susceptibility to the chemically induced damage and in the reproductive fitness is emphasized.


Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 537
Author(s):  
Michal Kaluza ◽  
Vladimir Vecerek ◽  
Eva Voslarova ◽  
Zbynek Semerad ◽  
Annamaria Passantino

Pathological findings in individual classes of cattle were assessed from the viewpoint of their localization and category. The objective of the study was to evaluate whether there are differences in the range and number of findings made between the individual classes of cattle. The results of veterinary inspections on 2,514,666 head of cattle slaughtered in the Czech Republic in the period 2010–2019 were used for the assessment. In terms of localization, the most frequent findings in cows were in the liver and pancreas (46.13%), the urinary tract (40.76%) and the lungs (36.23%). These findings also predominated in heifers and bulls, though they were recorded at lower frequencies (p < 0.01) than in cows. The most frequent pathological changes in heifers and bulls were chronic findings in the lungs (16.09% and 12.27%, respectively). The range of findings in calves differed significantly from other classes of cattle, primarily as the result of respiratory and diarrheal syndrome being the most frequent diseases in calves. Calves were the class of cattle most frequently diagnosed with findings in the lungs (44.89%), as well as other unclassified changes (24.43%) and overall changes (21.55%), which point to a systemic disorder of the organism. The results of this study confirmed the differing states of health in the individual classes of cattle and the differing health issues to which treatment and the prevention of the most frequently occurring infectious and non-infectious diseases must be adapted. Cattle welfare is affected not only by the level of health but also by the herd management and economics. This is confirmed by the range of findings, and the deterioration of living conditions especially in cows, likely because of great intensity of farming, but also in calves which suffered from emaciation or stunted growth.


2020 ◽  
pp. 205715852097518
Author(s):  
Leila Saud Abdulkadir ◽  
Morten Sodemann ◽  
Claire Gudex ◽  
Sören Möller ◽  
Dorthe Susanne Nielsen

The aim was to examine the impact on interpreters’ health knowledge, attitudes and self-evaluated skills after they participated in a pilot health introduction course at a university hospital in Denmark. The study was conducted as an intervention study using a questionnaire with both closed and open-ended questions. The questionnaire was distributed to interpreters one week before the six-week course started, and again at one week and at three months after course completion. Level of knowledge was calculated based on the number of answers to 18 multiple-choice questions on common health issues, diagnoses and treatments. Of the 100 interpreters who registered for the course, 86 completed the course, and 61 of these participants (70%) completed both the baseline and the one-week questionnaire. The mean knowledge score increased from 48 ( SD 6.9) at baseline to 52 ( SD 3.4; p < 0.001) one week after the course and was 51 ( SD 7.3; p < 0.001) three months after the course ( n = 55). Participants who increased their knowledge score the most were those with the least interpreter experience ( p = 0.001). One week after the course, most participants (83–95%) agreed that the individual lessons had been useful in their subsequent interpreting activities and that they had gained useful information. The health introduction course appeared to be beneficial for interpreters. This study highlights the need for greater focus on education for interpreters working in the healthcare sector.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Heleen Plaisier ◽  
Thomas R. Meagher ◽  
Daniel Barker

Abstract Objective Visualisation methods, primarily color-coded representation of sequence data, have been a predominant means of representation of DNA data. Algorithmic conversion of DNA sequence data to sound—sonification—represents an alternative means of representation that uses a different range of human sensory perception. We propose that sonification has value for public engagement with DNA sequence information because it has potential to be entertaining as well as informative. We conduct preliminary work to explore the potential of DNA sequence sonification in public engagement with bioinformatics. We apply a simple sonification technique for DNA, in which each DNA base is represented by a specific note. Additionally, a beat may be added to indicate codon boundaries or for musical effect. We report a brief analysis from public engagement events we conducted that featured this method of sonification. Results We report on use of DNA sequence sonification at two public events. Sonification has potential in public engagement with bioinformatics, both as a means of data representation and as a means to attract audience to a drop-in stand. We also discuss further directions for research on integration of sonification into bioinformatics public engagement and education.


1981 ◽  
Vol 152 (2) ◽  
pp. 183-208 ◽  
Author(s):  
G. Engler ◽  
A. Depicker ◽  
R. Maenhaut ◽  
R. Villarroel ◽  
M. Van Montagu ◽  
...  

Author(s):  
KC Mabilangan ◽  
S Healy ◽  
T Fantaneanu ◽  
S Whiting

Background: Growing evidence has that a suggested that mental health strongly influences quality of life (QoL) in adolescents with epilepsy. In addition, research has suggested that these mental health issues are associated with increased seizure burden and worsened health outcomes. Despite this, and the elevated rate of mental health issues in this population, seizure control tends to be the dominant or sole concern for treating physicians. Methods: In order to look at potential predictors of QoL in adolescents we looked at seizure related data, demographic variables, and comorbid conditions in 70 adolescents with epilepsy aged 14 to 18 (M= 16.3l; 37 males, 33 females) enrolled into an epilepsy transition clinic. Results: Regression analysis found that mental health remained a significant and independent predictor of QoL even when other significant seizure related variables were accounted for (t(58)= -3.44, p= .001). Furthermore, when looking at the individual subscales of patient QoL (e.g., memory, social support, stigma), mental health was consistently found to be the strongest correlate. Conclusions: These results demonstrate that in order to ensure the best outcomes for transition-aged adolescents with epilepsy, it is important to not only manage and treat seizures, but also to assess and treat mental health issues.


Lex Russica ◽  
2019 ◽  
pp. 121-128 ◽  
Author(s):  
M. N. Maleina

The use of modern genomic technologies, along with the benefits to the man and society, can lead to negative consequences. Such risks exist both in the process and after the production, isolation, modification, storage of DNA. Prior to detailed legislative regulation of relations regarding the use of genomic technologies for medicinal purposes and not for medical reasons, legal principles become vital.The paper formulates the following basic legal principles of genomic technologies application: the principle of preventive actions of the state to protect citizens from the risks of using genomic technologies; the principle of preserving the human genome as a special species; the principle of guaranteeing the inviolability of the individual of every citizen when using genomic technologies; the principle of priority of life and health of citizens over the interests of science and society; the principle of equality of citizens regardless of genetic characteristics; the principle of protection of genetic information of every citizen as part of personal data; the principle of guaranteeing access to the citizen’s own genetic information. Legal principles can be used to resolve a dispute by analogy of law.


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