Various multiplex STR systems have been developed by the major commercial companies in the forensic genetics field to comply with the recent establishment of the global European Standard Set (ESS) of markers. Of the various alternatives available, our laboratory decided to test the recent ESSplex Plus system (Qiagen) and the NGM kit (Life Technologies), which share the same 15 STR loci and comprise the most recently established ESS markers (D1S1656, D2S441, D10S1248, D12S391 and D22S1045). Apart from evaluating the kits' technical performances, a population and segregation study was carried out on a Portuguese sample, with the aim of introducing the ESS markers in routine forensic casework. A total of 370 individuals were sampled for this purpose, comprising 120 true trios (125 fathers, 125 mothers and 120 sons/daughters). No deviations from Hardy-Weinberg equilibrium were detected for the five new loci in the Portuguese population and no genotyping inconsistencies were observed between kits. Parameters of forensic interest revealed that, of the five ESS markers, D1S1656 was the most informative in our sample. Comparison of performances between all autosomal multiplex systems available in our laboratory (ESSplex Plus, NGM, Identifiler Plus and Powerplex 16 HS), revealed that the multiplex kits with the ESS markers generally showed better performances and, among these, the ESSplex Plus kit showed slightly higher sensitivity and a better detection of degraded DNA information.
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http://dx.doi.org/10.1016/j.fsigen.2013.08.015 | DOI Listing |
Alzheimers Dement
December 2024
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic, IDIBAPS, Barcelona, Spain
Background: Sleep‐wake alterations are common symptoms in Alzheimer’s Disease (AD) associated with faster cognitive decline. Noradrenaline dysfunction and neuroinflammation have been proposed as potential driving mechanisms. The ADIS project aims to study the relationship between sleep‐wake patterns, immune signatures (peripheral blood cytotoxic lymphocytes), and noradrenergic markers across the AD spectrum.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
NYU Grossman School of Medicine, New York, NY, USA
Background: Obstructive Sleep Apnea (OSA) and Excessive Daytime Sleepiness (EDS) are associated with increased Alzheimer’s disease (AD) risk. Black and Hispanic subjects have a higher burden of AD, present with greater OSA symptom severity, and EDS than non‐Hispanic whites. We present preliminary data supporting an innovative trial examining the impact of a novel OSA treatment paradigm on markers of (i) sleepiness related to cognition and (ii) AD progression, among and subjects.
View Article and Find Full Text PDFClin Nutr
December 2024
Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy; Geriatric Clinic, Maggiore University Hospital, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy; School of Dietetics, University of Trieste - Pordenone branch, Pordenone, Italy.
Background & Aims: Malnutrition and cognitive impairment are among the major contributors to frailty, that significantly increases the risk of mortality of older hospitalized patients. Multidimensional frailty assessment tools, such as the multidimensional prognostic index-MPI, a tool based on a standard comprehensive geriatric assessment (CGA), have proven valuable for predicting adverse outcomes, including mortality of older adults following acute illness but its application in everyday clinical practice is limited. We hypothesized that removing parameters not closely associated with mortality and sorting the patient population according to the presence or not of cognitive impairment with possible integration of common laboratory markers, could provide a simplified approach that could improve practicability in all settings with at least comparable 1-year mortality predictive value.
View Article and Find Full Text PDFNeuropsychiatr Dis Treat
December 2024
Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, People's Republic of China.
Purpose: Impulse control disorders (ICDs) and excessive daytime sleepiness (EDS) are common symptoms in Parkinson's disease (PD). Few longitudinal studies have focused on the association between EDS and ICDs. This longitudinal study aimed at assessing association between EDS and ICDs in PD.
View Article and Find Full Text PDFVirchows Arch
December 2024
Department of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Studničkova 2, Prague 2, 12800, Czech Republic.
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