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Based on density functional theory, the spontaneous separation in the mass-imbalanced Fermi-Fermi mixture is studied. The ground-state energy density functional is constructed with the effective contact interaction, with which the ground-state density profiles of the mixture are calculated under different conditions of mass-imbalance and coupling strength. The influence of mass-imbalance on the separation and the cloud size is analyzed. In addition, the system with both mass- and population-imbalance is also calculated and studied. Despite our rough treatment in the Thomas-Fermi approximation, it is hoped that the results may provide new clues to understand the nature of phase separation of a trapped ultracold gas in both theoretical and experimental researches in the future. [ABSTRACT FROM AUTHOR]

Basedon classical density functional theory, we study the sizeselectivity for ternary colloidal mixtures in the presence of a Gaussbarrier. The competition between the external potential and the depletionpotential is also investigated. The effects of bulk fraction of eachspecies, the size asymmetry, and the strength and width of the Gaussbarrier on the selectivity of the big species are calculated and analyzedin detail. The results in different conditions of bulk fraction suggestthat the larger the bulk fraction for the small species, the strongerselectivity of big particles. On the contrary, increase of bulk fractionfor the big species leads to a reduction in selectivity. In addition,results under different conditions of size asymmetry suggest thatthe medium particles can also be selected by the Gauss barrier whenthey are sufficiently large in comparison to the small particles.We also demonstrate the effect of barrier geometry on the selectivityof the big species and the competition between the depletion and theexternal potential. [ABSTRACT FROM AUTHOR]

Objective: The CYP4V2 gene of two pedigrees affected with Bietti crystalline corneoretinal dystrophy was analyzed to indentify the cause of the disease and provide a basis for clinical diagnosis., Methods: The probands were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Pathogenicity of the variants were searched through relevant databases and PubMed by following the ACMG guidelines., Results: A homozygous variant in the CYP4V2 gene c. (802-8) _810delTCATACAGGTCATCGCTinsGC was detected in proband from pedigree 1, parents did not detect; CYP4V2 genes c. (802-8)_810delTCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) compound heterozygous variants existed in the proband of pedigree 2,both parents were variant carriers. The results of Sanger sequencing showed that the variant of CYP4V2 gene in the two families was consistent with the NGS sequencing. The c. (802-8)_810delTCATACAGGTCATCGCTinsGC of CYP4V2 gene was splicing variant, and both splicing variant and nonsense variant could produce truncated nonfunctional protein products. Based on standards and guidelines by American College of Medical Genetics and Genomics, the CYP4V2 genes c. (802-8)_810del TCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) were predicted to be pathogenic variants (PVS1+PS1+PM2+PM3)., Conclusion: The homozygous variant c. (802-8) _810delTCATACAGGTCATCGCTinsGC and the complex heterozygous variants c. (802-8) _810delTCATACAGGTCATCGCTinsGC and c.958C>T (p.Arg320X) in CYP4V2 gene are the cause of the disease in the probands of two pedigrees , respectively.

Objective: To explore the clinical and genetic characteristics of five pedigrees affected with hereditary spastic paraplegia(HSP)., Methods: Clinical data of the five pedigrees was collected, and high-throughput sequencing was carried out to detect potential variants. Sanger sequencing were used to verify the results., Results: The probands of pedigree 1 and 2 were found to harbor heterozygous SPAST gene variants, namely c.1196C>T and c.1523T>A. The proband of pedigree 3 harbored compound heterozygous variants of FA2H gene (c.61G>C and c.688G>A). Proband from pedigree 4 harbored compound heterozygous variants of SPG11 gene (c.6812+4_6812+7delAGTA and c.915delT). The proband of pedigree 5 harbored compound heterozygous variants of SPG7 gene (c.1703_1704delAG and c.1937-1G>C). Based on the American College of Medical Genetics and Genomics(ACMG) guidelines, all variants were predicted to be likely pathogenic. Among these, SPAST gene c.1523T>A, FA2H gene c.61.G>C, SPG11 gene splicing region c.6812+4_6812+7delAGTA, c.915delT, SPG7 gene c.1703_1704delAG and splicing region c.1937-1G>C variants were unreported previously., Conclusion: The probands of pedigrees 1 and 2 were diagnosed with autosomal dominant hereditary spastic paraplegia type 4, for which pedigree 2 showed incompletely penetrance. Pedigrees 3, 4, and 5 were diagnosed with autosomal recessive hereditary spastic paraplegia type 35, 11 and 7, respectively. Above result provided a reference for clinical diagnosis and genetic counseling for the affected pedigrees.