Žmogaus genetinio privatumo ir genomo apsaugos teisiniai ir etiniai aspektai

Genetics is a biomedical science that investigates heredity, variability, occurrence of genetic diseases and their prevention. Genetic science has many fields of science, which deal with different genetic processes, methods, aspects and fields of application. The genetic research in Europe related to the individual as the main subject of the research is exposed to a wide range of ethical and legal issues. From the developments in genetic science other sciences have evolved, thanks to which the modern world is able to protect the genetic information of data, and to receive the sanction while ignoring the laws of such data. However, many problems still persist in the field of protection of personal genetic information, such as regulatory standards, the inviolability of an individual, the assurance of freedom and privacy of information. This manuscript attempts to reveal the main aspects of genetic human data protection, to research conduct regulations, ethics and issues related to the protection of individuals, such as protection of privacy, discrimination, confidentiality, etc. The article mainly focuses on the Conventions and Protocols elaborated by the Council of Europe because of its role in bioethics and focus on human rights. The author examined the documents such as the Convention on Human Rights and Biomedicine, the Additional Protocol to the Convention on Human Rights and Biomedicine concerning Biomedical Research, Directive 95/46/EC of the European Parliament and of the Council of 24 October 1995 on the protection of individuals with regard to the processing of personal data and on the free movement of such data and others. Genetic discrimination is strictly forbidden by international conventions and declarations, which means that discrimination on the grounds of personal genetic information (diseases, abnormalities) is not possible in all areas, including employment and insurance. However, individuals face some problems in getting a job due to the publicity and information disclosure to their employers, or in increasing the amount of insurance premiums. However, the disclosure of genetic information may have relevant, statutory consequences and the victims may apply to court for defending these rights. It is essential to protect genetic rights, as any form of discrimination against a person on the grounds of their genetic heritage is prohibited and intervention in the health field or disclosure of such information is only possible after the person concerned has given their free and informed consent.Straipsnyje teisiniu, medicininiu bei etiniu aspektais analizuojama žmogaus genetinių duomenų apsaugos samprata. Atskleidžiant nevienareikšmiškai traktuojamus bei vertinamus Europos teisės dokumentus formuluojami aspektai, akcentuojantys genetinės diskriminacijos bei piktnaudžiavimo genetiniais duomenimis darbinėje, draudimo bei mokslinių tyrimų sferose, prevencijos svarbą

Impact of Cosmobiological Factors on Chromosomal Anomalies Rates - Ethical Consideration

CC BY 4.0Backround: In recent years, there is an increasing number of data supporting the relation between lunar cycle and alterations in human body. For instance, it has been proved that hospitalized spontaneous abortions are significantly associated with the lunar cycle . Given that the most common cause of spontaneous abortion is chromosomal abnormalities of the embryo, we presumed that the lunar cycle could influence the occurrence of chromosomal diseases. From the point of bioethics it is a question if it is applicable to talk with patients about possible impact of cosmobiological factors on their case of chromosomal anomaly. Patients and Methods: We have selected 52 patients, who were bearing a fetus with a prenatally diagnosed chromosomal disorder, which included Down, Turner, Klinefelter, Patau and Edward syndromes. The control group (n=92) consisted of families, that were prenatally tested for chromosomal abnormalities and the results were negative. Then we gathered and analyzed information from patients' medical histories about various factors, which could have predisposed chromosomal disorders: age of both progenitors, consumption of medications during pregnancy, number of miscarriages, number of abortions, cases of genetic disorders in relatives, lunar phase on the day of conception. Results: Lunar phases at the time of conception in the test group distributed as following: new Moon 32.7 percent, first quarter 25.0 percent, full Moon 28.8 percent, third quarter 13.5 percent. In the control group lunar phases distributed as following: new Moon 29.3 percent, first quarter 27.2 percent, full Moon 26.1 percent, third quarter 17.4 percent. There was observed no statistically significant difference between test and control groups (p>0.05). OR for conception with chromosomal anomalies were increased in July (2.7(CI 95% 1.5-4.9) and December (3.2 (CI 95% 1.5-5.2) (p<0.05). OR showed decreased risk for chromosomal anomalies during conception at January (0.3 (CI 95% 0.1-0.7) , April (0.5 (CI 95% 0.2-0.7) and June 0.5 (CI 95% 0.2-0.8) (p<0.05). Conclusions: Our study showed there were no associations between lunar phase at the time of conception with the rates of chromosomal mutations. Conception in July and December increases the risk of chromosomal anomalies during conception. In contrast conception in January, April and June decreases chromosomal anomalies rates

Relationships between Risky Driving and Psychopathy Traits

CC BYBackground: Despite all efforts to ensure road safety, road deaths rank eighth in the world. More than 3,500 people die on the world's roads every day, almost 1.3 million. avoided deaths and around 50 million injuries annually. Aim of the Study: The aim of the study was to investigate the links between risky driving and psychopathic traits. Materials and Methods: 257 drivers participated, ranged from 18 to 66 years. A multivariate linear regression analysis was performed to determine if psychopathy predicts risky driving. Methods used in the study: the Driving Behavior Questionnaire to measure risky driving and the Triarchial Psychopathic Measures Questionnaire to measure psychopathic traits. Results: Drivers with a higher degree of psychopathic disinhibition trait commit more driving errors, slips and lapses, aggressive and ordinary driving violations; Drivers with a higher degree of psychopathic meanness trait commit more aggressive and ordinary driving violations; Drivers with a higher degree of psychopathic boldness trait make fewer driving mistakes and have a lower overall risk of driving; Psychopathy traits can predict risky driving and the disinhibition trait of psychopathy has the highest prognostic value in predicting risky driving. Conclusion: Psychopathy traits shows relationship with risky driving and psychopathy trait disinhibition can prognose risky driving

A Qualitative Systematic Review of Living with Duchenne Muscular Dystrophy

CC BY-NC-NDDuchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies, leading to limited upper limb use in its later stages. Due to medical and technological advances, patients with DMD are living longer and are reaching adolescence and adulthood. The benefits of bringing together qualitative views and studies in a systematic way include gaining a greater breadth of perspectives and a deeper understanding of health, psychological issues, and concerns from the point of view of patients, and helping the medical community and policymakers to create a better support system. This review aimed to describe the experiences of patients living with DMD in order to identify common themes across all relevant studies. The research question is: What is the lived-world experience of men with DMD? This review adopted a systematic search methodology in accordance with PRISMA guidance, and followed the SPIDER search strategy and the analytic procedure for thematic synthesis. In total, 11 studies were included in the review concerning 132 young people with DMD. In these studies, 5 main topics were identified: experiences of body powerlessness (progressive loss of body control, limited social freedom, lack of privacy); the search for identity (the meaning of becoming an adult man, feelings at the margins, maintaining normality, balancing dependence-independence); challenges in social relations (vulnerability to prejudice, risk of isolation, (in)dispensable parental support, emotional connectedness with carers, the support of others “in the same boat” with DMD); coping processes and resilience (underestimated strength, taking autonomy, toward acceptance, active self-management); and end-of-life experiences (living in the present, experiences of dying, (mis)communication with others about death and dying)

Effect of alpha-1 antitrypsin on monocytes activity in vitro and impact of genotype on features of chronic obstructive pulmonary disease

Alpha-1 antitrypsin is a circulating serine proteinase inhibitor secreted by the liver, which permeates most body tissues where it acts as an inhibitor of a range of proteolytic enzymes. Hereditary deficiency of alpha-1 antitrypsin is well established genetic risk factor for chronic obstructive pulmonary disease. It has been recently shown, that alpha-1 antitrypsin regulates many physiological and pathological processes, which may significantly influence the disease process including cell mediated immunity, apoptosis, tumor cell growth etc. The study analyzed alpha-1 antitrypsin influence on monocyte responses to bacterial endotoxyn through regulating differentiation marker CD14 expression and soluble CD14 release. The study also identified up till now not investigated alpha-1 antitrypsin genotypes in patients with chronic obstructive pulmonary disease in Lithuania and the potential role of systemic inflammation in the pathogenesis of chronic obstructive pulmonary disease with different alpha-1 antitrypsin genotypes

α1-Antitrypsin level in patients with spontaneous pneumothorax

Introduction: α1-Antitrypsin deficiency is an under-recognized condition with long diagnostic delays between the first symptoms and diagnosis, and there is evidence that patients with suggestive symptoms may see many physicians before an exact diagnosis is made. An increased incidence of serum α1-antitrypsin deficiency has been reported in patients with spontaneous pneumothorax. Aim of the research: To evaluate α1-antitrypsin level in subjects with spontaneous pneumothorax. Material and methods: Thirty-nine patients with the diagnosis of spontaneous pneumothorax and 100 age- and sex-matched control subjects were included in the study. α1-antitrypsin concentrations were determined by nephelometry. Serum qualitative Z antitrypsin variant was analyzed using commercial ELISA kits and α1-antitrypsin phenotyping was carried out by means of isoelectric focusing. Results: Spontaneous pneumothorax occurred in 29 patients for the first time; 10 patients had recurrent pneumothorax. There were no significant differences in age and lung function comparing the patients with and without αα1-antitrypsin deficiency. α1-Antitrypsin level was significantly higher in patients with spontaneous pneumothorax (1.53 ±0.23 g/l) than controls (1.34 ±0.31 g/l) (p = 0.03). Conclusions: Elevated serum α1-antitrypsin level in patients with pneumothorax may show the need to inhibit the activity of proteases that are important for lung damage

Žmonių santykių ir genetikos ryšys

Žmogaus sveikata veikia daugelis veiksniu: ji priklauso nuo genu, aplinkos ir gyvenimo budo. Gal ir keista, bet žmogaus gyvenimo budas ir santykiai su aplinkiniais cia atlieka bene didžiausia vaidmeni. Pasaulinės sveikatos organizacijos (PSO) duomenimis vidutiniškai žmogaus sveikata tik 10 procentu priklauso nuo medicinos paslaugu, 20 procentu nuo aplinkos, 20 procentu nuo genetikos ir net 50 procentu nuo gyvenimo budo ir tarpusavio bendravimo pobudžio. Kiekvienu individualiu atveju šie procentai gali skirtis, taciau šios bendros tendencijos byloja apie gyvenimo budo svarba sveikatai. Naujausi moksliniai tyrimai parod , kad musu genai gali nulemti žmogaus elgesi ir pasirinkima. Literaturoje pateikiami duomenys, kad moterys, kuriu cikle vyksta iprastiniai hormoniniai svyravimai ir ovuliacija, besirinkdamos vyra artimiems santykiams pasirenka atsižvelgdamos i specifinius veido, balso ir charakterio bruožus. Pasirodo, tai pasamoningai padeda pasirinkti genetiškai tinkamiausia busimo vaiko t va, kuris savo genu rinkiniu labiau skirtusi nuo jos pacios. O tai, kad nauja gyvyb iš abieju t vu gauna kuo skirtingesnius genus, salygoja geresne vaiko sveikata, stipresni imuniteta bei mažesne paveldimu ligu rizika. Egzistuoja ir atvirkštinis poveikio mechanizmas, nes ir išoriniai veiksniai gali veikti genus. Nauji moksliniai tyrimai parod , kad šiais veiksniais gali buti ne tik chemin s medžiagos ar maistas, bet ir dvasiniai: pozityvus emocinis nusiteikimas, geranoriškumas ir harmoningas bendravimas. Širdies elektrinis laukas paveikia kiekviena kuno lastele ir gali veikti kaip sinchronizuojantis signalas visoms lastel ms, panašiai kaip veikia radijo bangos. Ritmingai plakdama širdis sukuria interferencija, kai jos generuojami impulsai saveikauja su audiniu ir netgi genu magnetiniu lauku. [...]Lietuvos sveikatos mokslų universitetasMykolo Romerio universitetasTeologijos katedraVytauto Didžiojo universiteta

Ryšys tarp nėštumo nutraukimo ir psichologinės būklės

Šiandien apie poabortinį sindromą yra nemažai kalbama, tačiau patikimų, kliniškai pagrįstų tyrimų apie šio sindromo egzitavimą yra nedaug. Autoriai, teigiantys, kad poabortinis sindromas egzistuoja, daugiausia remiasi teoriniais teiginiais, moterų laiškais ir nuomonėmis. Remiantis moterų įvardintais išgyvenimais yra išskiriami poabortinio sindromo simptomai, kuriuos būtų galima suskirstyti į tris stambias dalis: psichologiniai, socialiniai ir fiziologiniai poabortinio sindromo simptomai. Tyrimą sudarė 20 moterų, patyrusių abortą, ir 20 moterų, turėjusių savaiminį persileidimą, apklausa. Atlikta moterų apklausa parodo, kad po nėštumo nutraukimo moterys jaučia ryškesnius psichologinius, socialinius ir fiziologinius sutrikimus nei moterys, patyrusios persileidimą. Remiantis šio tyrimo rezultatais ir teoriniais teiginiais galima daryti išvadą, kad būtina moteris informuoti apie aborto neigiamą įtaką moters psichikai.Miscarriage and induced abortion are life events that can potentially cause mental distress. The objective of this study was literature review and to perform case study to determine whether there are any differences in the patterns of psychological symptoms after these two events and to point the importance of informed consent. In our study 20 women who experienced miscarriages and 20 women who underwent induced abortions were interviewed in Vilnius out patients clinics. We found that women who had pregnancy termination had more mental distress than women who experienced a miscarriage (guilty, anxiety, anger, episodes of crying etc). Women undergoing abortion had significantly more conflicts in their partnerships. Separation occurred in about one-quarter of all couples. In conclusion women who had undergone an abortion exhibited higher frequency of psychological symptoms than after miscarriage. Although an answer to the causal question is not readily discerned based on the data available, as more prospective studies with numerous controls are being published, indirect evidence for a causal connection is beginning to emerge. So we may consider that it is necessary still before induced abortion procedure to inform the couples about an increasing possibility of mental distress

Hormoninių kontraceptikų poveikis ovuliacijai

Lastelės branduolyje yra DNR (dezoksiribonukleino rugštis), kurioje saugoma genetinė informacija. Pagal DNR sintezuojama iRNR, o pagal ja (ribosomose) – baltymai, kurie naudojami audiniu, organu ir viso kuno statybai. Baltymai sintezuojami iš aminorugšciu, kurias atneša tRNR. Hormoniniu kontraceptiku sudėtyje esantys estrogenai, kaip ir kiti steroidiniai hormonai, patenka pro lastelės membrana, prisijungia prie receptoriu citoplazmoje, nunešami i branduoli, kur, prisijunge prie specifinės DNR, skatina transportinės ribonukleino rugšties (tRNR) ir informacinės ribonukleino rugšties (iRNR) sinteze. iRNR vėliau nukeliauja i ribosomas, kur pagal ja sintezuojami baltymai (fermentai, strukturiniai baltymai ir receptoriai). Taigi tiesioginiai hormoniniu kontraceptiku taikiniai yra genai, su tuo susijusios ir kai kurios ju reakcijos. Hormoniniu kontraceptiku vartotojos turi pastoviai vienoda estrogenu ir progesteronu kieki, kas „pamėgdžioja“ hormonine busena, kuri buna nėštumo metu. Naujausi tyrimai parodė , kad šis naturaliu hormoniniu svyravimu moters ciklo metu nebuvimas gali paveikti netgi vyro pasirinkima. Mokslininkai nustatė , kad moterys, kuriu cikle vyksta iprastiniai hormoniniai svyravimai ir ovuliacija, renkantis vyra artimiems santykiams pasirenka atsižvelgiant i specifinius veido, balso ir charakterio bruožus. Pasirodo, tai pasamoningai padeda pasirinkti genetiškai tinkamiausia busimo vaiko tėva, kuris savo genu rinkiniu labiau skirtusi nuo jos pacios. O tai, kad nauja gyvyb iš abieju tėvu gauna kuo skirtingesnius genus, salygoja geresne vaiko sveikata, stipresni imuniteta bei mažesne paveldimu ligu rizika. [...]Lietuvos sveikatos mokslų universitetasMykolo Romerio universitetasTeologijos katedraVytauto Didžiojo universiteta