OBJECTIVETo analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation.

METHODSG-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of detected abnormality. Result of the SNP array was validated with fluorescence in situ hybridization (FISH).

RESULTSThe SNP array has detected a 6.053 Mb deletion at 15q11.2q13.1 (22,770,421- 28,823,722) which overlapped with the critical region of AS (type 1). The parents of the child showed no abnormal results for G-banded karyotyping, SNP array and FISH analysis, indicating a de novo origin of the deletion. Mendelian error checking based on the SNP information suggested that the 15q11.2q13.1 deletion was of maternal origin.

CONCLUSIONSNP array can accurately define the size, location and parental origin of chromosomal microdeletions, which may facilitate the diagnosis of AS due to 15q11q13 deletion and better understanding of its genotype-phenotype correlation.

Angelman Syndrome ; genetics ; Child ; Genotype ; Humans ; Karyotyping ; methods ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; genetics

Objective: To compare the in vitro biocompatibility of bone marrow mesenchymal cells on polyetheretherketone (PEEK) and titanium (Ti) surfaces. Methods : PEEK and Ti foils with thicknesses of 1 mm and diameters of 10 mm were prepared. First, bone marrow mesenchymal cells were separated and purified by the whole bone marrow adherent culture method in vitro. Then, osteogenesis-induced bone marrow mesenchymal cells were cultivated on the surfaces of the PEEK and Ti foils. Scanning electron microscopy (SEM), the Alamar Blue test, an alkaline phosphatase (ALP) kit and Alizarin Red staining were used to analyze calcium nodules and compare the adhesion, proliferation and osteogenic differentiation ability of bone marrow mesenchymal cells on the surfaces of the PEEK and Ti foils. Results : ① The morphology of the bone marrow mesenchymal cells cultured on the PEEK and Ti foils at 1 h, 4 h and 24 h showed no significant differences. ② In the 1 h, 3 h, 1 d and 3 d cultures of the bone marrow mesenchymal cells inoculated on the surfaces of the foils, the number of living cells in the PEEK group was greater than that in the Ti group (P < 0.05). ③ In the 7 d and 14 d osteogenesis-induced cultures of the inoculated bone marrow mesenchymal cells, the ALP activity of the PEEK group cells was significantly greater than that of the Ti group cells (P < 0.05). ④ Semiquantitative analysis after Alizarin Red staining showed that the mineralization degree of the bone marrow mesenchymal cells induced by osteoblasts was greater in the PEEK group than in the Ti group (P < 0.05). Conclusion PEEK has better in vitro biocompatibility than Ti and can better promote cell adhesion, proliferation and osteogenic differentiation compared with Ti, and so it is expected to become a new dental implant material.

AIM: To compare the clinical efficacy, vault, and rotational stability of horizontal, oblique, and vertical implantation of Toric implantable collamer lens(TICL).METHODS: Retrospective cohort study. A total of 92 cases(120 eyes)who underwent TICL implantation from July 2018 to March 2022 and had regular follow-up for at least 1 a postoperatively(1 d, 1 wk, 1, 3, 6 mo, and 1 a)at Wuhan Bright Eye Hospital were collected. The patients were divided into three groups, with 34 cases(45 eyes)in horizontal implantation group, 25 cases(29 eyes)in oblique implantation group(29 cases), and 33 cases(46 eyes)in vertical implantation group. Uncorrected distance visual acuity(UDVA), corrected distance visual acuity(CDVA), diopters, vault, and rotation angle(deviation of the actual axis of TICL from the expected axis).RESULTS: All surgeries were uneventful, and there were no complications such as infection, secondary glaucoma, or cataract opacity. Safety and efficacy of the surgery: the CDVA of the three groups of patients was better than or equal to the preoperative CDVA at 1 a postoperatively, and there was no statistically significant differences in postoperative UDVA and CDVA of the three groups(P>0.05). The safety index at 1a postoperatively was 1.34±0.21, 1.34±0.17, and 1.31±0.18 for the horizontal, oblique, and vertical groups, respectively. The efficacy index was 1.26±0.21, 1.33±0.18, and 1.27±0.16 for the three groups, respectively, both with no statistically significant differences(P>0.05). Vault: there was a significant difference in postoperative vault among the three groups(P=0.003), with the vertical group having the lowest vault, followed by the horizontal group and the oblique group. The vaults at different follow-up time points within each group showed significant differences(P<0.001), and all decreased over time. Residual astigmatism: there was no significant difference in residual astigmatism among the three groups(P=0.130), but there were differences at different follow-up time points within each group(P<0.001). Rotation angle: no significant differences in rotation angle were observed among the three groups(P=0.135), but there were differences at different follow-up time points within each group(P<0.001).CONCLUSION: The implantation of TICL in different orientations has good safety and efficacy, the postoperative rotational stability is good, and the appropriate angle can be selected to implant TICL according to the clinical situation.