DNA-STR analysis is widely used in the forensic science field and has important requirements on the analysis time to obtain faster inspections. The developed forensic STR kit, referred to as Expressmarker 16 (EX16), could shorten the amplification time to a minimum of 35min. It enables 16 STR loci to be co-detected, including 13 CODIS loci, D2S1338, D6S1043 and Amelogenin loci. The kit is validated by a series of tests formed by DNA mixtures, stutter ratios, optimized PCR protocols based on annealing temperature research, species specificities, inhibitors, sensitivity, and parallel tests according to FBI QAS (2009/2011) (QAS, 2009; SWGDAM, 2010). The results demonstrated that EX16 was a useful tool for rapid criminal investigation.
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http://dx.doi.org/10.1016/j.fsigen.2014.02.008 | DOI Listing |
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFJ Autism Dev Disord
January 2025
Federal Technological University of Paraná, Postgraduate Program in Science and Technology Teaching (PPGECT), Ponta Grossa, Paraná, Brasil.
Objective: To identify the tools used to assess eating behaviors in individuals with Autism Spectrum Disorder (ASD) and summarize their distribution, citation rates, journal publication, JCR scores, and psychometric properties.
Methods: A literature review was conducted to identify studies on eating behavior in individuals with ASD. The search included various descriptors and combinations of keywords in databases such as Medline/PubMed, Science Direct, Scopus, SciELO, and Web of Science.
Epilepsia
January 2025
National Center for Epilepsy, Division of Clinical Neuroscience, full member of European Reference Network EpiCARE, Oslo University Hospital, Oslo, Norway.
Objective: This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.
Methods: The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway's universal health care system and mandatory reporting to the Norwegian Patient Registry.
Disabil Rehabil
January 2025
Postgraduate Program in Rehabilitation Sciences, Universidade Nove de Julho (UNINOVE), São Paulo, SP, Brazil.
Purpose: 1) To identify outcome measures used in support programs designed to enhance functioning in autistic children and adolescents, and 2) To map the content of these measures to the domains of the International Classification of Functioning, Disability and Health (ICF).
Methods: A systematic review was conducted. Searches were performed in Medline/PubMed, EMBASE and Virtual Health Library databases, with no restrictions imposed regarding language or year of publication.
Int J Mol Sci
December 2024
Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Mammalian blood cells originate from specialized 'hemogenic' endothelial (HE) cells in major arteries. During the endothelial-to-hematopoietic transition (EHT), nascent hematopoietic stem cells (HSCs) bud from the arterial endothelial wall and enter circulation, destined to colonize the fetal liver before ultimately migrating to the bone marrow. Mechanisms and processes that facilitate EHT and the release of nascent HSCs are incompletely understood, but may involve signaling from neighboring vascular endothelial cells, stromal support cells, circulating pre-formed hematopoietic cells, and/or systemic factors secreted by distal organs.
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