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Abstract Background Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. Methods We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We also assessed oxytocin receptor (OXTR) gene expression within the temporal cortex tissue by quantitative real-time polymerase chain reaction (PCR). Results Our analysis revealed a genomic deletion containing the oxytocin receptor gene, OXTR (MIM accession no.: 167055), previously implicated in autism, was present in an autism proband and his mother who exhibits symptoms of obsessive-compulsive disorder. The proband's affected sibling did not harbor this deletion but instead may exhibit epigenetic misregulation of this gene through aberrant gene silencing by DNA methylation. Further DNA methylation analysis of the CpG island known to regulate OXTR expression identified several CpG dinucleotides that show independent statistically significant increases in the DNA methylation status in the peripheral blood cells and temporal cortex in independent datasets of individuals with autism as compared to control samples. Associated with the increase in methylation of these CpG dinucleotides is our finding that OXTR mRNA showed decreased expression in the temporal cortex tissue of autism cases matched for age and sex compared to controls. Conclusion Together, these data provide further evidence for the role of OXTR and the oxytocin signaling pathway in the etiology of autism and, for the first time, implicate the epigenetic regulation of OXTR in the development of the disorder. See the related commentary by Gurrieri and Neri: http://www.biomedcentral.com/1741-7015/7/63

Abstract Leeches are famous for their high medical value and wide environmental adaptability. Among them, cave leeches are a very fascinating and rare group, which is an important component in the study of adaptive evolution of leeches. However, no study has yet reported a reference genome for this group. In this study, we assembled a high-quality chromosome-level genome of the cave terrestrial leech Sinospelaeobdella cavatuses, through Illumina and PacBio sequencing, alongside chromosome conformation capture techniques. The resulting genome spans 153.67 Mb across 9 pseudochromosomes(range: 11.33 to 23.53 Mb), with a mounting rate of up to 95.37% and features an N50 length of 17.15 Mb. This genome is composed of 35.16% repetitive elements and contains 21180 predicted protein-coding genes. Decoding the S. cavatuses genome not only promotes future studies on study of its phylogeny, evolution, and behavior, but also provides valuable resources for in-depth investigation on adaptive evolution of leech.

A novel wire-arc additive manufacturing (WAAM) process utilising titanium flux-cored wire (FCW) containing TiB2, Al60V40 and Ti6Al4V powders was proposed for fabricating TiB/Ti6Al4V composites. The FCW exhibited the capability in customising the composition of TiB/Ti6Al4V composites from hypoeutectic to hypereutectic by tailoring the proportion of TiB2 in blended powders. The comprehensive influence of TiB2 content on molten pool flow, compositional homogeneity and porosity of as-printed composites was attributed to the reduction of melt flowability, driven by viscosity escalation. It was unravelled the porosity was the intrinsic deficiency for the FCW-WAAM process, originating from the gases within FCW, while the interlayered TiB clusters were caused by the lagging melt of TiB2 powders. Due to directional solidification, TiB whiskers possessed a large aspect ratio and were partial to upward growth in hypoeutectic composites, which enhanced the load transfer strengthening. However, the porosity degraded the ductility of composites and caused the variation in mechanical performance.

[Objective] DC circuit breaker is a key equipment in metro traction power supply system. To improve the reliability of the traction and power supply system through reasonable maintenance strategy, it is necessary to evaluate the health condition of DC circuit breaker accurately. [Method] Health indexes are used to characterize the overall health condition of the equipment and establish a comprehensive evaluation model of the equipment health condition. On the basis that the changes of the equipment characteristic parameters reflect the equipment health condition, evaluation indexes are reasonably selected and a multi-index evaluation system of equipment operating condition is established. With the method of hierarchy and entropy weight, the calculation method of the weight of each sub-index is improved, making the equipment health condition evaluation model more reasonable. The equipment health index is calculated based on the evaluation model, and the service life model based on historical health data is established to fit the trend of the equipment health index, evaluate the future health condition and predict the remaining service life. The proposed evaluation model is validated by the actual data of a traction substation. [Result & Conclusion] The example analysis results show that the proposed evaluation model of DC circuit breaker is effective and rational to some extent in that it can scientifically judge and predict the healthy condition and remaining service life of the DC circuit breaker.

This paper presents a novel hybrid algorithm that combines the Butterfly Optimization Algorithm (BOA) and Quantum-behavior Particle Swarm Optimization (QPSO) algorithms, leveraging $ gbest $ to establish an algorithm communication channel for cooperation. Initially, the population is split into two equal subgroups optimized by BOA and QPSO respectively, with the latter incorporating the Lévy flight for enhanced performance. Subsequently, a hybrid mechanism comprising a weight hybrid mechanism, a elite strategy, and a diversification mechanism is introduced to blend the two algorithms. Experimental evaluation on 12 benchmark test functions and the Muskin model demonstrates that the synergy between BOA and QPSO significantly enhances algorithm performance. The hybrid mechanism further boosts algorithm performance, positioning the new algorithm as a high-performance method. In the Muskingum model experiment, the algorithm proposed in this article can give the best sum of the square of deviation (SSQ) and is superior in the comparison of other indicators. Overall, through benchmark test function experiments and Muskin model evaluations, it is evident that the algorithm proposed in this paper exhibits strong optimization capabilities and is effective in addressing practical problems.

Copper-based pesticides are extensively used in agriculture, yet their impacts on beneficial insects remain poorly understood. Here, we investigate how cupric chloride exposure affects the gut microbiome of Bombyx mori, a model organism crucial for silk production. Using 16S rRNA sequencing, we analyzed the gut bacterial communities of fifth-instar silkworm larvae exposed to different concentrations of cupric chloride (0, 4, and 8 g/kg) in an artificial diet. The high-dose exposure dramatically altered the microbial diversity and community structure, where the Bacteroidota abundance decreased from 50.43% to 23.50%, while Firmicutes increased from 0.93% to 18.92%. A network analysis revealed complex interactions between the bacterial genera, with Proteobacteria and Firmicutes emerging as key players in the community response to copper stress. The functional prediction indicated significant shifts in metabolic pathways and genetic information processing in the high-dose group. Notably, the low-dose treatment induced minimal changes in both the taxonomic composition and predicted functions, suggesting a threshold effect in the microbiome response to copper exposure. Our findings provide novel insights into how agricultural chemicals influence insect gut microbiota and highlight potential implications for silkworm health and silk production. This work contributes to understanding the ecological impacts of copper-based pesticides and may inform evidence-based policies for their use in sericulture regions.

The transition from traditional mulberry leaf feeding to artificial diet cultivation represents a major advancement in modern sericulture, yet the genetic mechanisms driving this adaptation remain largely unexplored. This study investigates the genomic basis of artificial diet adaptation in the silkworm strain Guican No.5 through whole-genome resequencing and transcriptome analysis. We identified 8,935,179 single-nucleotide polymorphisms (SNPs) across all chromosomes, accounting for 2.01% of the genome, with particularly high densities observed in chromosomes 23, 26, and 28. Our analysis also revealed 879 novel transcripts, many of which are involved in digestion, detoxification, and stress response pathways. Key novel genes, including three carboxylesterases, two cytochrome P450s, one heat shock protein, and one copper/zinc superoxide dismutase, exhibited varying degrees of sequence similarity to known proteins, suggesting modifications to existing genetic frameworks. Notably, one novel P450 gene displayed only 74.07% sequence identity with its closest homolog, indicating the emergence of a new protein sequence. Additionally, several key genes showed high similarity to wild silkworm (Bombyx mandarina) proteins, underscoring their evolutionary origins. These findings provide valuable insights into the molecular mechanisms underpinning artificial diet adaptation in silkworms and offer genomic resources to enhance artificial diet formulations and breeding programs in sericulture.

Ferns represent the second-largest group of vascular plants, yet their genomic resources lag far behind. Here, we present a chromosome-scale genome assembly of Cibotium barometz (L.) J. Sm., a medicinally important fern species. The 3.49 Gb genome, assembled into 66 chromosomes with 99.41% sequence anchorage, revealed an exceptionally high proportion (83.93%) of repetitive elements, dominated by recently expanded LTR retrotransposons. We identified 30,616 protein-coding genes, providing insights into fern-specific gene families. Genomic analyses uncover the evolutionary dynamics of 513 key biosynthetic genes, particularly those involved in terpenoid and flavonoid production. Expression profiling across tissues revealed tissue-specific regulation of these pathways, with notable upregulation of chalcone synthase genes in roots. Our structural analysis of 1-deoxy-d-xylulose-5-phosphate synthase, a key enzyme in terpenoid biosynthesis, demonstrated high conservation across land plants while highlighting fern-specific adaptations. The identification of multiple isoforms for key enzymes points to potential gene-duplication events or the evolution of fern-specific variants. This genome provides a foundation for understanding fern biology, evolution, and the molecular basis of their medicinal properties. It also offers valuable resources for conservation efforts and pharmacological research, paving the way for sustainable utilization of this valuable medicinal plant and advancing our understanding of plant diversity and natural product biosynthesis.

Iodine treatment administered before the end of the second trimester of pregnancy appears to provide effective protection from iodine deficiency in the fetal brain. Iodine deficiency causes endemic cretinism and is the most common preventable cause of mental retardation. Iodine treatment before conception is known to prevent cretinism, but the effects of treatment during pregnancy and after birth are less well known. Pregnant women and young children in an iodine-poor region were given iodine treatment. The children of women who received iodine treatment before the end of the second trimester of pregnancy showed a 2% rate of neurologic abnormalities, compared to 9% of the children who were treated during or after the third trimester. At about two years of age, the mean development score of the children whose mothers received iodine treatment before the end of the second trimester of pregnancy was 90, compared to a mean score of 75 in their untreated counterparts.

To assess the possible role of familial psychopathology in the etiology of infantile autism, family histories and neurological status of 51 autistic subjects subgrouped by level of language function were evaluated. Among findings was a high incidence of Asperger's Syndrome in family members of high functioning autistic subjects. (Author/DB)

The gut microbiome significantly influences the health and productivity of silkworms (Bombyx mori), the cornerstone of sericulture. With the increasing use of cost-effective artificial diets in sericulture, it is crucial to understand how these diets impact the silkworm gut microbiomes. Here we employed 16S rRNA sequencing to delineate the impact of three distinct dietary regimens on the silkworm gut microbiomes: exclusive mulberry leaf diet (SY), exclusive artificial feed diet (SL), and a sequential transition from artificial feed to mulberry leaves (ZS). Our results unveiled stark differences in microbial diversity across the groups, with the ZS group displaying an intermediary complexity. LefSe and random forest analyses identified Methylobacteriaceae, Microbacterium, and Rhodococcus as significantly enriched in the ZS group, suggesting their potential to facilitate silkworms’ adaptation to dietary transitions. Functional profiling revealed differential pathway regulation, indicating a metabolic reconfiguration in response to dietary modulations. Notably, the enrichment of Lactobacillus and Weissella in both the SL and ZS groups highlights their potential as probiotics in artificial diets. Our findings provide insights into the diet adaptation mechanisms of silkworm gut microbiota, paving the way for harnessing the intestinal bacteria to enhance silkworm health and silk production through targeted microbial interventions in sericulture practices.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disorder affecting the spinal nerve roots and spinal nerves. Inflammatory reactions are associated with the destruction of the insulating myelin sheath around these nerves. The disorder often follows a viral infection, and the cause is suspected to be an abnormal immune response. Modification of the immune response proves to be beneficial for patients with CIDP. Corticosteroids and immunosuppressant drugs are effective, but these drugs have the potential for long-term side effects. Plasmapheresis, in which the plasma portion of blood is replaced while the patient keeps his or her own blood cells is also effective, but this procedure is expensive and elaborate, and always has the danger of starting a potentially serious bacterial infection. Recent results with adult patients have shown that immunoglobulin, or antibody molecules, obtained from donor blood is effective in treating CIDP. A study was conducted to determine if high-dose intravenous immunoglobulin is effective in the treatment of children as well. Four children were given one high-dose intravenous infusion of immunoglobulin each day for five days during a relapse of disease symptoms. All four children had been treated for previous relapses with plasmapheresis. In two cases, the responses achieved with the immunoglobulin treatment were similar to that achieved with the plasmapheresis, while in the other two cases, the immunoglobulin treatment actually produced superior results. There were no side effects to the immunoglobulin treatment, in contrast with the plasmapheresis, which had been complicated by two Staphylococcus infections, one case of venous thromboses, and one case of profuse bleeding that occurred when a line was accidentally pulled out. These results suggest that high-dose immunoglobulin is safe and at least as effective as plasmapheresis in the treatment of CIDP. (Consumer Summary produced by Reliance Medical Information, Inc.)