New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.

Effects of La on microstructure and mechanical properties of NbMoTiVSi0.2 refractory high entropy alloys

To study the effects of La on the microstructure and mechanical properties of refractory high entropy alloys,NbMoTiVSi0.2 alloys with different La contents were prepared.Phase constitution,microstructure evolution,compressive properties and related mechanisms were systematically studied.Results show that the alloys with La addition are composed of BCC solid solution,eutectic structure,MSi2 disilicide phase and La-containing precipitates.Eutectic structure and most of La precipitates are formed at the grain boundaries.Disilicide phase is formed in the grains.La can change the grain morphologies from dendritic structure to near-equiaxed structure,and the average grain size decreases from 180 to 20μm with the increase of La content from 0 to 0.5 at.%.Compressive testing shows that the ultimate strength and the yield strength increase with the increase of La content,which is resulted from the grain boundary strengthening.However,they cannot be greatly improved because of the formation of MSi2 disilicide phase with low strength.The ductility decreases with the increase of La content,which is due to the La precipitates and brittle MSi2 disilicide phase.

Effect of V and Sn on microstructure and mechanical properties of gray cast iron

The cylinder liner is one of the important parts of a diesel engine.Gray cast iron is the main material for manufacturing cylinder liners due to its good casting performance,convenient processing performance,good wear resistance and low cost.In the present work,the effects of vanadium(V)and tin(Sn)on the microstructure and properties of gray cast iron were studied.Results show that increasing the contents of V and Sn can not only refine the graphite,but also reduce the pearlite lamellar space.The graphite size and lamellar spacing of pearlite are firstly reduced and then increased.Pearlite quantity reaches over 98%after adding V and Sn.Adding V and Sn can promote the precipitation and solid solution strengthening of gray cast iron,so as to improve the mechanical properties.The Brinell hardness reaches the peak of 424 HB at the contents of 0.21wt.%V and 0.06wt.%Sn,and the sample containing 0.11wt.%V and 0.08wt.%Sn shows the highest compressive strength and tensile strength of 1,699 MPa and 515 MPa,respectively.The main strengthening mechanism comes from the solid solution strengthening and fine grain strengthening of V and Sn.

Diversification of interfaces triggered hydrogen storage properties enhancement

Dual effects of grain refinement and alloying are achieved and the mechanism of"diverse interfaces reinforcement"for hydrogen storage Mg alloys is first revealed.An interface reinforced Mg-Y-Zn-Al alloy for hydrogen storage is fabricated.This work figures out that the adventurous Al-rich phase exhibits an ordered face-centered cubic(FCC)structure with composition of(31±2)at%Y-(28±1)at%Zn-(41±3)at%Al,i.e.,Y_(3)Zn_(3)Al_(4),and an incoherent interface between Y3Zn3Al4phase and Mg substrate is observed.