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.
In this paper, based on the analysis of strata soil temperature variation, the DeST software is used to simulate changes of outdoor air parameters under typical meteorological year in Jinan. One-dimensional unsteady state soil air heat transfer model is regarded as the research object, this paper theoretically studies export air temperature change rules for the whole year under tunnel intermittent running condition. The results show that the tunnel plays a preheating role for outdoor air in winter and the cold role in summer, which provides a good cold、heat source conditions for the application of air source system based on the tunnel wind, especially the most hot and cold day throughout the year, the system has a remarkable effect.
Based on the introduction characteristics of capillary plane radiation air conditioning systems, we focuse on the analysis phenomenon of radiation asymmetry in the radiant air conditioning systems in the engineering practice , and discuss the condition that produces this phenomenon, and establish mathematical model of radiation asymmetric in the capillary plane air conditioning systems. And we work out the radiation angle coefficient between the human body and the floor, south wall, north wall, east wall , west wall in air conditioning rooms, and expound the radiation asymmetry degree in different parts of air conditioning rooms. The result is of positive significance to research capillary plane radiation air conditioning systems deeply and to improve occupant comfort .
Establish the simplified model of 215 clutch. Then made grid division and apply the boundary conditions to the model to do CFD analysis in ANSYS CFX module. According to the results, a new pressure plates structure is suggested. The gap between the supporting platforms against the diaphragm spring is designed into bevel and the number of the supporting platform is increased from 6 to 9. The result of the new structure shows that the air flows quickly than the original one. In other words, the convection between the air and the pressure plate is improved, and it contributes to reduce the temperature rise.
This document established a three-dimensional laminar mathematical and physical model which describes heat transfer, mass transfer coupling process in wet thermal recovery unit for air-conditioning systerms, based on Computational Fluid Dynamics (CFD) simulations. In addition, the research discussed the distributions of pressure, temperature, concentration and other parameters in the air channels. The heat transfer performance was analyzed by enthalpy efficiency. The results showed that the structural parameters of wet thermal recovery unit for air-conditioning systerm played important influence in the heat transfer performance and flow drag performance. The research set a foundation for the optimal design of wet thermal recovery unit for air-conditioning systerm.
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