Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy individuals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder.

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Twin screw vacuum pump is an important kind of dry vacuum pump, which is widely used in the oil-free vacuum system. The design of the screw rotor profile directly influences the working performance and manufacture cost of the screw pumps. In this paper, a new rotor profile for twin screw vacuum pump is introduced which is comprised of the cycloid curve, the dedendum circle arc, the involute curve and the addendum circle arc. The processes of three-dimensional modeling, motion simulation, interference checking and structural optimization for twin screw vacuum pumps are studied by means of Solidworks software. The works provide theoretical basis for optimal designing and reference for test prototype manufacturing. The results showed the performance of the vacuum pump according with the designer’s intention.

In the vacuum film coating field, the co-sputtering method by two or more targets has been widely used for coating the composite film consisted of a variety of component elements. In this paper, a typical co-sputtering system is studied which composes the twin round planar magnetron sputtering targets settled symmetrically and slantways towards a single flat substrate with self-rotation. A model is set up to describe the non-dimensional relationship between the film thickness and the structural parameters of co-sputtering system, such as distance of the substrate-to-target , symmetrical eccentricity , translation length and obliquity angle of target . On the assumption that the sputtered particles are emitted in the direction of cosine distribution and fly straightly without collision scattering, the depositing rate distribution, film thickness distribution, the utilization ratio of the target sputtering material, and the fluctuant ratio of the components from two targets are calculated. Some of simulating examples are given by use of Matlab software.

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