[Prenatal diagnosis of two fetuses with chromosome 1p36 deletion syndrome].

OBJECTIVE: To analyze two fetuses with multiple malformations revealed by ultrasonography using single nucleotide polymorphism array (SNP array), and to explore the strategy for the prenatal diagnosis of 1p36 deletion syndrome. METHODS: Amniocentesis was performed on the two pregnant women. Amnion fluid cells were cultured, and karyotypes of the fetuses were determined through G-banding analysis. Whole genome SNP array was used to detect genomic anomalies of the two fetuses. The karyotypes of their parents were determined through G-banding analysis of peripheral venous blood samples. RESULTS: G-banding analysis showed a 46,XY,add(1p36)? and a 46,XX,add(1p36)? karyotype for fetuses 1 and 2, respectively. SNP array analysis showed that the fetus 1 had arr[19]1p36.33p36.32 (752 566 - 3 393 462)×1 and 7q35q36.3 (144 480 549 - 159 119 486)×3, and fetus 2 had arr[19]1p36.33p36.23 (752 566 - 8 362 754)×1, 6p25.3p22.3 (204 909 - 20 182 185)×3. The mother of fetus 1 had a 46,XX,t(1;7)(p36;q35) karyotype, and the mother of fetus 2 had a 46,XX,t(1;6)(p36;p22) karyotype. The karyotypes of both fathers appeared to be normal. CONCLUSION: SNP array has the advantages such as high sensitivity and high accuracy for prenatal diagnosis, and can provide more detailed information for genetic counseling of 1p36 deletion syndrome.

Effective removal of Cr(VI) from aqueous solution based on APTES modified nanoporous silicon prepared from kerf loss silicon waste.

Recently, the recycling of kerf loss silicon waste has trigged much attention due to the rapid growth of PV market. In this study, 3-aminopropylethoxysilane (APTES)-functionalized nanoporous silicon (NPSi) hybrid materials were prepared by nanosilver-assisted chemical etching (Ag-ACE) of kerf loss silicon waste derived from diamond-wire saw cutting silicon ingot process. The resulting APTES-NPSi indicated high-effective adsorption ability of Cr(VI) from aqueous solution, which was highly pH dependent, and the maximum adsorption capacity reached up to 103.75 mg/g after 60 min at room temperature. The adsorption kinetics and adsorption isotherms were in good agreement with pseudo-second-order model and Langmuir isotherm. Additionally, the Cr(VI) up-take mechanism was carefully investigated and ascribed to the Cr(VI) adsorption on the protonated anime groups by chemical chelating reaction in which the Cr(VI) was reduced to Cr(III). It was worth mentioning that the APTES-NPSi maintained excellent adsorption capacity after five successive regenerated cycles. Therefore, the work would pave the way for recycling of silicon cutting waste and the potential of Cr(VI) removal from aqueous solution based on the modified NPSi.

Effective removal of Cd(II) from aqueous solution based on multifunctional nanoporous silicon derived from solar kerf loss waste.

Recycling of kerf-loss slurry waste has become a meaningful and urgent issue in recent years. In this study, a novel hybrid material was prepared by Ag-assisted chemical etching kerf loss silicon waste and subsequently functionalized by a facile three-step graft process of 3-aminopropyltrimethoxy-silane, maleic anhydride, and ethylenediamine, named as EDA-MAH-APTES-NPSi, which could work as an effective adsorbent for removal of Cd(Ⅱ) from aqueous solution. The effect of initial pH, absorption duration, and metal ion concentrations on absorption performance were investigated. The adsorption equilibrium achieved after 120 min, the maximum adsorption capacity reached up to 210.01 mg/g and pH was at 5.5. The adsorption kinetic was fitted in the pseudo-second-order model and the Freundlich equation provided an accurate description for adsorption behavior. The XPS and FT-IR analysis manifested that Cd(Ⅱ) removal might be ascribed to the adsorption on the surface organic functional group by chemical chelating reaction and the ion exchange reaction. The EDA-MAH-APTES-NPSi maintained excellent adsorption capacity which decreased approximately 15.3 % (from 40.5-34.3 mg/g) after five successive regenerated cycles. The work confirms the potential of Cd(Ⅱ) removal from aqueous solution based on the modified NPSi and opens up a new way for recycling silicon cutting waste.

Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient.

PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Here, we report an integration-free human induced pluripotent stem cell line (NJMUi001-A) generated from peripheral blood mononuclear cells of a PKU patient by using Sendai virus. This iPS cell line has characteristics of pluripotent stem cells and can be used as a useful tool for the investigation of this inherited metabolic disease.

Generation of MERRF patient-derived induced pluripotent stem cell line iMERRF-C7.

Human iPSC line iMERRF-C7 was generated from PBMCs of a patient with mitochondrial disorder MERRF. Using Sendai virus, the reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered non-integratively. The resulting iPSCs expressed pluripotency markers, could differentiate into the three germ layers in vivo, had normal genomic structure, and retained the disease-causing m.8344 mutation with similar heteroplasmic level.