18 research outputs found

    Reliability and Reproducibility of DNA Profiling from Degraded Samples in Forensic Genetics

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    Forensic DNA analysis is widely used to determine kinship and the identity of evidence from the crime scene and it is especially important in the identification of human remains after different types of exposure (water, heat, etc.). Currently, there are no official recommendations for forensic scientists as to which bones and tissues are the most reliable among degraded DNA samples. Since 2014 more than 350 fragments of unidentified corpses have been examined in the Forensic Biological Department (Republic Bureau of Forensic Medicine, Kazan, Russia). Based on our experience, the most reliable and reproducible DNA profiles are obtained from lower limber bones (in 90% cases), muscles (in 85% cases) and ribs (in 80% cases). However, we discovered a new source of DNA – the odontoid process of the 2nd cervical vertebra, which contains a high amount of DNA with a better state of preservation than many other bones. According to our results, when a complete skeleton or unidentified corpse is found, it is advisable to provide bones with soft tissue remnants in the absence of deeply embedded putrefactive changes. When working at the crime scene, special attention should be paid to separating small bones and fragments from skeletal remains

    Change of Lipid Peroxidation System – Antioxidant Protection Parameters in Adolescents with Obesity and Fatty Hepatosis

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    Background. Spread of childhood obesity is associated with social and economic factors of modern lifestyle that alter food preferences and lead to sedentary life. Nowadays fatty hepatosis is considered a hepatic manifestation of the metabolic syndrome, which is linked to the rising prevalence of obesity among the population. There is evidence of a correlation between metabolic disorders and oxidative stress reactions.Aims. To study characteristics of lipid peroxidation system and antioxidant defense processes in adolescents with fatty hepatosis.Materials and methods. We examined 15 adolescents with obesity and fatty hepatosis, 20 adolescents with obesity and without fatty hepatosis, and 20 apparently healthy adolescents, who formed the control group. Spectrophotometric and fluorometric methods were used in the research.Results. We found that some components of antioxidant status of adolescents with obesity and fatty hepatosis were decreased, both in comparison with the group with obesity without hepatosis and control group.Conclusions. It is recommended that patients with obesity and fatty hepatosis take antioxidants in addition to metabolic therapy

    Predictive risk factors before the onset of familial rheumatoid arthritis: the Tatarstan cohort study

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    BackgroundA familial history of rheumatoid arthritis (RA) predisposes an individual to develop RA. This study aimed at investigating factors associated with this conversion from the Tatarstan cohort.MethodsA total of 144 individuals, referred to as pre-RA and at risk for familial RA, were selected 2 years (range: 2–21 years) before conversion to RA and compared to non-converted 328 first-degree relatives (FDR) from RA as assessed after ≥2 years follow-up, and 355 healthy controls were also selected (HC). Preclinical parameters and socio-demographic/individual/HLA genetic factors were analyzed when data were available at the time of enrollment.ResultsAs compared to FDR and HC groups, pre-RA individuals were characterized before conversion to RA by the presence of arthralgia, severe morning symptoms, a lower educational level, and rural location. An association with the HLA-DRB1 SE risk factor was also retrieved with symmetrical arthralgia and passive smoking. On the contrary, alcohol consumption and childlessness in women were protective and associated with the HLA-DRB1*07:01 locus.ConclusionBefore RA onset, a combination of individual and genetic factors characterized those who are at risk of progressing to RA among those with familial RA relatives

    In seroconverted rheumatoid arthritis patients a multi-reactive anti-herpes IgM profile is associated with disease activity

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    International audienceConflicting results have been reported regarding human herpes virus (HHV) reactivation in patients with rheumatoid arthritis (RA). To explore this link, 74 RA patients were selected and compared to 42 first degree relatives (FDR) from probands with RA and 25 healthy controls from the Tatarstan women cohort. The serological analysis was done by testing anti-HSV/CMV/EBV IgM, IgG, plus the IgG avidity index, and completed by evaluating HSV/CMV/EBV DNA by PCR. Results from these analyses reveal: (i) a long lasting infection of HHV in RA, FDR and healthy controls (IgG seroconversion >97%); (ii) an elevated IgM anti-HHV response in seroconverted RA patients which is related to HSV1/2 reactivation (HSV1/2 PCR+); and (iii) a multi-reactive IgM HHV burden profile associated with disease activity (DAS28). In conclusion, HSV1/2 reactivation in seroconverted RA patients is associated with an abnormal anti-HHV immune response, which was reflected in IgM HHV burden, and in activity disease profile

    Interplay of Environmental, Individual and Genetic Factors in Rheumatoid Arthritis Provocation

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    In this review, we explore systemization of knowledge about the triggering effects of non-genetic factors in pathogenic mechanisms that contribute to the development of rheumatoid arthritis (RA). Possible mechanisms involving environmental and individual factors in RA pathogenesis were analyzed, namely, infections, mental stress, sleep deprivation ecology, age, perinatal and gender factors, eating habits, obesity and smoking. The non-genetic factors modulate basic processes in the body with the impact of these factors being non-specific, but these common challenges may be decisive for advancement of the disease in the predisposed body at risk for RA. The provocation of this particular disease is associated with the presence of congenital loci minoris resistentia. The more frequent non-genetic factors form tangles of interdependent relationships and, thereby, several interdependent external factors hit one vulnerable basic process at once, either provoking or reinforcing each other. Understanding the specific mechanisms by which environmental and individual factors impact an individual under RA risk in the preclinical stages can contribute to early disease diagnosis and, if the factor is modifiable, might be useful for the prevention or delay of its development
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