Analytical and Clinical Validation for RT-qPCR Detection of SARS-CoV-2 Without RNA Extraction.

The recent COVID-19 pandemic has posed an unprecedented challenge to laboratory diagnosis, based on the amplification of SARS-CoV-2 RNA. With global contagion figures exceeding 4 million persons, the shortage of reagents for RNA extraction represents a bottleneck for testing globally. We present the validation results for an RT-qPCR protocol without prior RNA extraction.

Mutations in sphingolipid metabolism genes are associated with ADHD.

Attention deficit hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder in children, with genetic factors accounting for 75-80% of the phenotypic variance. Recent studies have suggested that ADHD patients might present with atypical central myelination that can persist into adulthood. Given the essential role of sphingolipids in myelin formation and maintenance, we explored genetic variation in sphingolipid metabolism genes for association with ADHD risk.

From Molecules to the Clinic: Linking Schizophrenia and Metabolic Syndrome through Sphingolipids Metabolism.

Metabolic syndrome (MS) is a prevalent and severe comorbidity observed in schizophrenia (SZ). The exact nature of this association is controversial and very often accredited to the effects of psychotropic medications and disease-induced life-style modifications, such as inactive lifestyle, poor dietary choices, and smoking. However, drug therapy and disease-induced lifestyle factors are likely not the only factors contributing to the observed converging nature of these conditions, since an increased prevalence of MS is also observed in first episode and drug-naïve psychosis populations.

Low serum sphingolipids in children with attention deficit-hyperactivity disorder.

Background: Attention deficit-hyperactivity disorder (ADHD) is the most prevalent neuropsychiatric condition in childhood. ADHD is a multifactorial trait with a strong genetic component. One neurodevelopmental hypothesis is that ADHD is associated with a lag in brain maturation.

Intra-Individual Response Variability Assessed by Ex-Gaussian Analysis may be a New Endophenotype for Attention-Deficit/Hyperactivity Disorder.

Intra-individual variability of response times (RTisv) is considered as potential endophenotype for attentional deficit/hyperactivity disorder (ADHD). Traditional methods for estimating RTisv lose information regarding response times (RTs) distribution along the task, with eventual effects on statistical power. Ex-Gaussian analysis captures the dynamic nature of RTisv, estimating normal and exponential components for RT distribution, with specific phenomenological correlates.

Blood component usage during extracorporeal membrane oxygenation: experience in 98 patients at a Latin-American tertiary hospital.

Background/aims: Hemorrhagic complications during ECMO may affect a large proportion of the patients depending on the clinical setting. To guarantee optimal delivery of blood products to these patients, blood banks require updated information on the transfusion requirements. Few studies to date provide this information.

ω-3 Long-Chain Polyunsaturated Fatty Acids and Fatty Acid Desaturase Activity Ratios as Eventual Endophenotypes for ADHD.

Objective: Epidemiological studies suggest that long-chain polyunsaturated fatty acids (LC-PUFAs) may be suitable as endophenotypes for ADHD. To be appropriated vulnerability traits, endophenotypes should be altered in unaffected relatives of index cases. Serum profiles of LC-PUFAs in unaffected relatives of ADHD patients remain understudied.

Intratask Variability As a Correlate for DRD4 and SLC6A3 Variants: A Pilot Study in ADHD.

Unlabelled: Behavioral variability may be an ADHD key feature. Currently used ex-Gaussian/Fast Fourier Transform analyses characterize general distribution and oscillatory/rhythmic components of performance but are unable to demonstrate slow cumulative changes over entire tasks.

Objective: To explore how performance of ADHD children and unaffected sibs gradually evolves in relation to genetic variants linked to ADHD.

[Neurocognitive models for attention deficit hyperactivity disorder and their consequences on the searching of endophenotypes].

Introduction: The influence of genetics in attention deficit hyperactivity disorder (ADHD) is well confirmed. However, identification of the specific genes involved in the pathogenesis of the disorder has proved to be difficult. Some authors suggest that the statistical power of molecular genetic studies could improve by replacing the diagnosis of the disease on the basis of clinical phenotype by quantitative risk markers closer to underlying genetic pathophysiology and gene action.