To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Of the 106 distinct monogenetic disorders detected, 15 accounted for 60.7% of genetic diagnoses. The diagnostic yield was 29.1% in steroid resistant nephritic syndrome (SRNS), 61.4% in cystic renal disease, 17.0% in congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% in renal tubular disease/renal calcinosis, and 23.9% for chronic kidney disease (CKD) 3 to 5 stage with unknown origin. Genetic approaches of target gene sequence (TGS), singleton whole‐exome sequencing (WES) and trio‐WES were performed with diagnostic rates of 44.8%, 36.2%, and 42.6%, respectively. The early use of trio‐WES could improve the diagnostic rate especially in renal tubular disease and calcinosis. We report the genetic spectrum of Chinese children with renal disease. Establishment of the CCGKDD will improve the genetic work on renal disease.
Ultrathin oxides have been reported to possess excellent properties in electronic, magnetic, optical, and catalytic fields. However, the current and primary approaches toward the preparation of ultrathin oxides are only applicable to amorphous or polycrystalline oxide nanosheets or films. Here, we successfully synthesize high-quality ultrathin antimony oxide single crystals via a substrate-buffer-controlled chemical vapor deposition strategy. The asobtained ultrathin antimony oxide single crystals exhibit high dielectric constant (~100) and large breakdown voltage (~5.7 GV m −1). Such a strategy can also be utilized to fabricate other ultrathin oxides, opening up an avenue in broadening the applicaitons of ultrathin oxides in many emerging fields.
A series of Ti-7Fe-xNb (x=0, 1, 4, 6, 9, 11 wt.%) alloys was designed and cast to investigate the β→α″ martensitic phase transformation, β phase stability, the resulting microstructure and mechanical properties. Phase analysis revealed that only Ti-7Fe-11Nb alloy shows a single body-centred cubic β phase microstructure while the others are comprised of β and orthorhombic α″ phases. Moreover, Nb addition up to 11 wt.% enhances the stability and volume fraction of β phase in the microstructure, hence reducing the propensity of the alloy system to form α″ phase during quenching. Compressive yield strength and hardness of the alloys are (985-1847) MPa and (325-520) Hv respectively. Additionally, Ti-7Fe-11Nb possesses the lowest Young's modulus (84 GPa) and the highest deformability (42% strain) among the designed alloys due to the single β phase microstructure. This high deformability is also corroborated by the large plastic deformation zone underneath the Vickers indenter. In contrast, the fractured surfaces of Ti-7Fe and Ti-7Fe-1Nb alloys after compressive tests mostly contain shallow dimples, verifying their low ductility. The good combination of mechanical properties obtained for Ti-7Fe-11Nb renders it more desirable than commonly used CP-Ti and Ti-6Al-4V materials and makes it a promising candidate for biomedical application.
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