Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced.

Steroidogenic pathway in girls diagnosed with autism spectrum disorders.

The diagnostic prevalence of autism spectrum disorders (ASD) shows boys to be more affected than girls. Due to this reason, there is a lack of research including and observing ASD girls. Present study was aimed to detect hormones of steroidogenesis pathway in prepubertal girls (n = 16) diagnosed with ASD and sex and age matched neurotypical controls (CTRL, n = 16).

Investigation of the Presence of DNA in Human Blood Plasma Small Extracellular Vesicles.

Extracellular DNA (ecDNA) is DNA outside of cells, which is a result of various mechanisms. EcDNA is believed to be a cause of various pathogeneses as well as their potential biomarker. EcDNA is believed to also be part of small extracellular vesicles (sEVs) from cell cultures.

The Presence of Hyperhomocysteinemia Does Not Aggravate the Cardiometabolic Risk Imposed by Hyperuricemia in Young Individuals: A Retrospective Analysis of a Cross-Sectional Study.

Background: Little research has been conducted into the effects of the combined manifestation of hyperuricemia and hyperhomocysteinemia on cardiometabolic risk factors and markers in young subjects.

Methods: 1298 males and 1402 females, 14-to-20-year-olds, were classified into four groups: 1/normouricemic/normohomocysteinemic, 2/normouricemic/hyperhormohomocysteinemic, 3/hyperuricemic/normohomocysteinemic, and 4/hyperuricemic/hyperhomocysteinemic. Anthropometric measures, blood pressure, plasma glucose, insulin, lipids, markers of renal function, C-reactive protein, asymmetric dimethylarginine, and blood counts were determined.