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2 result(s) for "Kortmann, Gustavo Lucena"
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Processing the Backlog of Sexual Assault Evidence from a Brazilian Forensic Genetics Laboratory Using Automation
The accumulation of untested sexual evidences is a common problem for many forensic laboratories. In Brazil, there are around 150 thousand sexual evidences awaiting DNA processing. At the same time, manual extraction by differential lysis of these evidences is laborious and time-consuming. In this regard, the Brazilian federal government has structured and sponsored forensic genetics laboratories, providing automated platforms for evidence processing, with the objective of clearing the backlogs of sexual evidences and feeding the national DNA database. This study aims to evaluate the results from processing the backlog of sexual evidences in the forensic genetics laboratory of the Institute- Geral de Perícias do Rio Grande do Sul to verify if the use of automation is an efficient strategy to manage large amounts of stored evidences. A total of 614 cases of sexual assault (1026 sexual evidences) from the last 10 years (2013 to 2023) with at least one sample with positive result for spermatozoa detection were analyzed. Samples were submitted for DNA extraction by differential lysis on the Hamilton Micro lab Autolys STAR SAE platform, followed by the amplification of STR autosomal markers, capillary electrophoresis analysis in the ABI 3500 genetic analyzer and insertion in the BPG-RS
The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD
Attention-deficit/hyperactivity disorder (ADHD) affects approximately 5 % of school-aged children and 2.5 % of adults. Genetic studies in ADHD have pointed to genes in different neurobiological systems, with relatively small individual effects. The mineralocorticoid receptor is the main receptor involved in the initial triggering of stress response. Therefore, its encoding gene ( NR3C2 ) is a candidate for psychiatric disorder studies, including ADHD, and behavioral phenotypes. There is evidence that the Val allele of the MRI180V polymorphism (rs5522) increases the risk of depression, attention and cognitive deficits. We investigated the possible role of the mineralocorticoid receptor gene in the symptom dimensions and susceptibility to persistent ADHD. We compared genotype and allele frequencies in 478 adult patients with ADHD and 597 controls and symptom dimensions in 449 patients and 132 controls. Diagnoses were based on the DSM-IV criteria. ADHD symptom dimensions were investigated with SNAP-IV for ADHD severity and Barkley scales for severity and impairment. Carriers of the Val allele presented higher inattention, hyperactivity/impulsivity and impairment scores, while genotype and allele frequencies did not differ between patients and controls. These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.