Search

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut-brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies. In this study, we developed a Bayesian differential ranking algorithm to identify ASD-associated molecular and taxa profiles across 10 cross-sectional microbiome datasets and 15 other datasets, including dietary patterns, metabolomics, cytokine profiles and human brain gene expression profiles. We found a functional architecture along the GBA that correlates with heterogeneity of ASD phenotypes, and it is characterized by ASD-associated amino acid, carbohydrate and lipid profiles predominantly encoded by microbial species in the genera Prevotella, Bifidobacterium, Desulfovibrio and Bacteroides and correlates with brain gene expression changes, restrictive dietary patterns and pro-inflammatory cytokine profiles. The functional architecture revealed in age-matched and sex-matched cohorts is not present in sibling-matched cohorts. We also show a strong association between temporal changes in microbiome composition and ASD phenotypes. In summary, we propose a framework to leverage multi-omic datasets from well-defined cohorts and investigate how the GBA influences ASD.

Background: The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children. Methods: We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male). Additionally, we studied AA profiles from 488 children, matched for age and free of ASD (control group). Principal component and cluster analysis were employed to explore potential associations within the ASD group and to identify subgroups. Results: We observed lower plasma levels of glutamine in children with ASD compared to non-ASD children (p < 0.001). Six essential, two conditionally essential, and four non-essential AA were found to be increased in children with ASD. The clustering analysis revealed two groups, labeled Neurological (NEU) and Nutritional (NUT), which included a majority of ASD children (94% and 78%, respectively). The NEU group exhibited high levels of taurine, aspartate, glutamic acid, and ornithine, while the NUT group showed elevated levels of branched-chain AA. Conclusions: In children with ASD, we identified some heterogeneous AA patterns that may serve as biochemical signatures of neurological impairment in some individuals, while in others they may indicate nutritional dysregulation. [ABSTRACT FROM AUTHOR]

The Italian Society of Clinical Biochemistry and Molecular Biology (SIBioC) has long promoted harmonizing activities, focusing on the laboratory reports to guarantee accuracy and comparability of the results. There is a wealth of guidelines on the clinical usefulness and diagnostic accuracy of serum protein electrophoresis (SPE), but only few provide specific recommendations for reporting and commenting the results. According to surveys and international multi-center studies, there is considerable variability between SPE reports among laboratories, which negatively impacts the management of patients with monoclonal gammopaties (MGs). This document issued by the SIBioC Study Group on Proteins, provides guidance on how to standardize and harmonize laboratory SPE reports, formulated on the basis on the available reference literature as well as on expert consensus. Each SPE report should be accompanied by a descriptive comment, mainly related to the management of samples with monoclonal components (detection, quantification and immunotyping). Examples of comments are provided. Special attention should be dedicated to samples showing a possible interference by therapeutic monoclonal antibodies (tmAb) currently used for the treatment of Multiple Myeloma (MM). Failure to detect interference due to tmAb can lead to further unnecessary diagnostic procedures or incorrect interpretations of the efficacy of treatment, such as the failure to detect a complete response to treatment in MM patients. Close collaboration between laboratory professionals and clinicians is therefore of paramount importance to provide correct information that will be useful in every step of the management of MGs patients. [ABSTRACT FROM AUTHOR]

Background: Capillary electrophoresis (CE) is used for the screening of protein abnormalities in serum and other biological fluids. Since the Helena V8 CE system has been recently commercialized, the aim of this study was to assess its analytical performance under routine laboratory conditions. Methods: The evaluation of Helena V8 (Medical Systems S.p.A., Genova, Italy) for protein fractions (i.e., albumin, alpha-1, alpha-2, beta-1, beta-2, gamma, albumin/globulin ratio [A/G]) and monoclonal component (MC) quantification included imprecision studies, linearity, and comparison with Sebia Capillarys (Sebia, Evry Cedex, France), which was considered the reference analyzer. Results: The imprecision of Helena V8 on all parameters was comprised between 0.8% and 15.2%; the linearity was excellent up to an MC value of 14.5% (r=1.00). The comparison studies showed excellent Spearman's correlations with Sebia Capillarys, with coefficients comprised between 0.84 and 0.99 (all p

The letter addresses concerns regarding the inaccurate definition of Bence Jones proteinuria (BJP) in the EFLM European Urinalysis Guideline 2023. The authors argue that the guideline's terminology does not accurately reflect the characteristics of BJP, which is defined as monoclonal free light chains of immunoglobulins. They caution against using total proteinuria as a screening method for BJP, as it may not be sensitive enough to detect clinically significant concentrations. The authors emphasize the importance of using strict and accurate definitions in guidelines and recommend urine immunofixation as the gold standard test for detecting BJP. [Extracted from the article]