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Investigation of recast and crack formation in laser trepanning drilling of CMSX-4 angled holes
This paper presents an experimental investigation on the influences of laser trepanning drilling process parameters on the recast layer thickness and surface crack formation in CMSX-4 nickel-based superalloy angled holes. The effects of peak power, pulse frequency and the trepanning speed as input parameters were investigated in details by varying the laser drilling conditions using Taguchi orthogonal array-based design of experiment approach. Analysis of variance identifies the significant parameters affecting the output responses. It is found that the output responses are affected mainly by the peak power and trepanning speed. The experimental results reveal that the recast layer thickness increases with the increase of peak power and trepanning speed whereas the crack number density decreases with the increase of peak power only. Pulse frequency has no significant effect on both output responses within the range of values investigated. The knowledge gained in this parametric study could be used to improve the metallurgical characteristics of laser-drilled nickel-based acute angled holes
Neuromonitoring in thyroidectomy: a meta-analysis of effectiveness from randomized controlled trials
Outcomes and prognostic factors of first relapsed acute promyelocytic leukemia patients undergoing salvage therapy with intravenous arsenic trioxide and chemotherapy
Increasing access to microfluidics for studying fungi and other branched biological structures
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.
Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
Integrating genomics, transcriptomics, and epigenomics data, we describe two novel DLG2 promoters and coding first exons expressed in human fetal brain. Their murine conservation and protein-level evidence allowed us to produce new DLG2 gene models for human and mouse. These new genic elements are deleted in 90% of 29 patients (public and in-house) showing partial deletion of the DLG2 gene. The patients' clinical characteristics expand the neurodevelopmental phenotypic spectrum linked to DLG2 gene disruption to cognitive and behavioral categories.
While protein-coding genes are regarded as well known, our work shows that integration of multiple omics datasets can unveil novel coding elements. From a clinical perspective, our work demonstrates that two new DLG2 promoters and exons are crucial for the neurodevelopmental phenotypes associated with this gene. In addition, our work brings evidence for the lack of cross-annotation in human versus mouse reference genomes and nucleotide versus protein databases