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Objective: Attention Deficit/Hyperactivity Disorder (ADHD) is a common behavioral syndrome that begins in childhood and affects 3.4% of children worldwide. Due to its etiological complexity, there are no consistent biomarkers for ADHD, however the high heritability presented by the disorder indicates a genetic/epigenetic influence. The main epigenetic mechanism is DNA methylation, a process with an important role in gene expression and in many psychiatric disorders. Thus, our study sought to identify epi-signatures biomarkers in 29 children clinically diagnosed with ADHD., Methods: After DNA extraction and bisulfite conversion, we performed methylation array experiment for differential methylation, ontological and biological age analysis., Results: The biological response in ADHD patients was not sufficient to determine a conclusive epi-signature in our study. However, our results highlighted the interaction of energy metabolism and oxidative stress pathways in ADHD patients detected by differential methylation patterns. Furthermore, we were able to identify a marginal association between the DNAmAge and ADHD., Conclusion: Our study present new methylation biomarkers findings associated with energy metabolism and oxidative stress pathways, in addition to DNAmAge in ADHD patients. However, we propose that further multiethnic studies, with larger cohorts and including maternal conditions, are necessary to demonstrate a definitive association between ADHD and these methylation biomarkers., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objectives: To evaluate the potential biological involvement of miRNA expression in the immune response and beta cell function in T1D., Methods: We screened 377 serum miRNAs of 110 subjects divided into four groups: healthy individuals (control group) and patients at different stages of T1D progression, from the initial immunological manifestation presenting islet autoantibodies (AbP group) until partial and strong beta cell damage in the recent (recent T1D group) and long-term T1D, with 2 to 5 years of disease (T1D 2-5y group)., Results: The results revealed 69 differentially expressed miRNAs (DEMs) in relation to controls. Several miRNAs were correlated with islet autoantibodies (IA2A, GADA, and Znt8A), age, and C-peptide levels, mainly from AbP, and recent T1D groups pointing these miRNAs as relevant to T1D pathogenesis and progression. Several miRNAs were related to metabolic derangements, inflammatory pathways, and several other autoimmune diseases. Pathway analysis of putative DEM targets revealed an enrichment in pathways related to metabolic syndrome, inflammatory response, apoptosis and insulin signaling pathways, metabolic derangements, and decreased immunomodulation. One of the miRNAs' gene targets was DYRK2 (dual-specificity tyrosine-phosphorylation-regulated kinase 2), which is an autoantigen targeted by an antibody in T1D. ROC curve analysis showed hsa-miR-16 and hsa-miR-200a-3p with AUCs greater than for glucose levels, with discriminating power for T1D prediction greater than glucose levels. Conclusions/Interpretation. Our data suggests a potential influence of DEMs on disease progression from the initial autoimmune lesion up to severe beta cell dysfunction and the role of miRNAs hsa-miR-16 and hsa-miR-200a-3p as biomarkers of T1D progression., Competing Interests: The authors declare no conflict of interest., (Copyright © 2022 Aritania Sousa Santos et al.)

The use of creep feeding for preweaning piglets is important to improve the performance of the piglets. The objective of this experiment was evaluate the effect of using or altering the position of piglet's creep feeder during lactation on piglet's performance and on behavior of piglets and sows kept in a hot climate environment. Forty-five sows and their litters at 10 days of lactation were randomly distributed into three treatments: front feeder (FF) - near the side of the sow's head; back feeder (BF) - near the side of the rump of the sow; and no feeder (NF). All piglets were weighed individually to evaluate the average weight, weight gain and coefficient of variation of the weight. Behavior assessments of the piglets and sows were recorded in 3 period. At 15 and 21 d, piglets of the FF treatment were heavier (P ≤ 0.0001) than piglets of the other treatments. At 10-21d piglets of FF treatment had 76.2% less belly nosing behavior than the NF piglets (P=0.015). The treatments had no impact on behavior of the sows. The creep feeders positioned in the front of the farrowing crate increased piglet growth rate and decreased frequency of belly nosing behavior.

Objective: The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible correlations with maternal risk factors., Method: Genome-wide DNA methylation analysis of 96 blood samples was performed using the Illumina Human Methylation 850K BeadChip. The blood samples were collected as follows: 32 from the umbilical cord of fetuses with gastroschisis, 32 from their respective mothers, 16 from the umbilical cord of fetuses without malformation, and 16 from their respective mothers., Results: The differential DNA methylation analysis showed a significant difference between the groups. The enrichment analysis resulted in 12 sites related to T-cell activation (p = 0.0128). The sites with different methylation status contained 10 genes, three of which were related to the beta-2-microglobulin gene. The methylation profile observed in the fetuses with gastroschisis was not inherited from the mothers. In addition, there was no association between maternal urinary tract infection, smoking, and alcohol use and different methylated sites., Conclusion: We established the methylation profile of gastroschisis fetuses, which differs from that of normal fetuses. The profile was not inherited and did not correlate with maternal risk factors., (© 2020 John Wiley & Sons Ltd.)

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation., (© 2019 S. Karger AG, Basel.)

Objective: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients., Methods: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays., Results: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes., Conclusion: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis.

Objective: To assess the prediction of delivery within 7 days in pregnant women who showed symptoms of spontaneous preterm birth (PB) by means of fetal adrenal gland biometry and to compare these predictions with the cervical length (CL) measurement., Methods: We performed a prospective cross-sectional study with 53 pregnant women between 24 and 36 weeks of gestation. An ultrasound exam was performed for each participant to obtain the CL measurement (transvaginal route) and fetal adrenal gland biometry on day 1 of their hospital admission because of symptoms of spontaneous PB. The main outcome measure was the time between the ultrasound exam and delivery, which was classified into two groups: delivery  ≤7 days and delivery  >7 days. A receiver operating characteristics (ROC) curve was performed to define the cutoffs for sensitivity and specificity., Results: The prevalence of delivery within 7 days was 35.8%, which showed a statistically significant difference from the depth of the central zone of the fetal adrenal gland (p  =  0.036). The cutoff for the depth of the central zone of the fetal adrenal gland was 7.2 mm (sensitivity 66.7%, specificity 61.8% and accuracy 63.5%). These values were not significantly different than the cutoffs for cervical length measurement: 20 mm (p  =  0.267) and 9 mm (p  =  0.118)., Conclusion: The biometry for the central zone of the fetal adrenal gland predicted delivery within 7 days in pregnant women with spontaneous PB and had a predictive accuracy similar to that of CL measurement.