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

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

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

Human APP

This study provides further insight into the molecular mechanisms that control neurotransmitter release. Experiments were performed on larval neuromuscular junctions of transgenic Drosophila melanogaster lines with different levels of human amyloid precursor protein (APP) production. To express human genes in motor neurons of Drosophila, the UAS-GAL4 system was used. Human APP gene expression increased the number of synaptic boutons per neuromuscular junction. The total number of active zones, detected by Bruchpilot protein puncta distribution, remained unchanged; however, the average number of active zones per bouton decreased. These disturbances were accompanied by a decrease in frequency of miniature excitatory junction potentials without alteration in random nature of spontaneous quantal release. Similar structural and functional changes were observed with co-overexpression of human APP and β-secretase genes. In Drosophila line with expression of human amyloid-β42 peptide itself, parameters analyzed did not differ from controls, suggesting the specificity of APP effects. These results confirm the involvement of APP in synaptogenesis and provide evidence to suggest that human APP overexpression specifically disturbs the structural and functional organization of active zone and results in altered Bruchpilot distribution and lowered probability of spontaneous neurotransmitter release

Human APP Gene Expression Alters Active Zone Distribution and Spontaneous Neurotransmitter Release at the Drosophila Larval Neuromuscular Junction

This study provides further insight into the molecular mechanisms that control neurotransmitter release. Experiments were performed on larval neuromuscular junctions of transgenic Drosophila melanogaster lines with different levels of human amyloid precursor protein (APP) production. To express human genes in motor neurons of Drosophila, the UAS-GAL4 system was used. Human APP gene expression increased the number of synaptic boutons per neuromuscular junction. The total number of active zones, detected by Bruchpilot protein puncta distribution, remained unchanged; however, the average number of active zones per bouton decreased. These disturbances were accompanied by a decrease in frequency of miniature excitatory junction potentials without alteration in random nature of spontaneous quantal release. Similar structural and functional changes were observed with co-overexpression of human APP and β-secretase genes. In Drosophila line with expression of human amyloid-β42 peptide itself, parameters analyzed did not differ from controls, suggesting the specificity of APP effects.These results confirm the involvement of APP in synaptogenesis and provide evidence to suggest that human APP overexpression specifically disturbs the structural and functional organization of active zone and results in altered Bruchpilot distribution and lowered probability of spontaneous neurotransmitter release

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

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

Herpes infectious burben is associated with inflammation and disease activity in Rheumatoid Arthritis.

International audienc

How Rheumatoid Arthritis Can Result from Provocation of the Immune System by Microorganisms and Viruses

International audienc

An elevated respiratory infection peak characterizes first-degree relatives when evolving to rheumatoid arthritis.

International audienc

Gut microbiota in rheumatoid arthritis: potential bacterial drivers and protectors.

International audienc