冠状动脉支架生物相容性的系统评价

目的应用动物实验方法对聚酯聚乙烯复合膜/聚乙烯(冠状动脉支架)进行血液、遗传毒性和肌肉的生物相容性评价。方法依据ISO10993-10方法通过对家兔血液相容性试验、遗传毒性试验和肌肉植入后局部反应试验进行生物相容性评价。结果凝血酶时间(TT)、凝血酶原时间(PT)、部分凝血活酶时间(APTT)在使用支架前后无明显差异,血浆纤维蛋白原(Fg)水平在术后1～4h逐渐下降,至24h恢复正常;血小板计数从1h开始下降,至24h后逐步恢复正常。局部肌肉临床解剖和组织学观察未见异常、未见染色体发生畸变。包装材料无泄漏情况、包装材料与细菌培养基接触部位未见细菌生长。结论聚酯聚乙烯复合膜/聚乙烯(冠状动脉支架)对兔的凝血功能没有影响,由于创伤24h内对血栓形成有一定的影响,24h后对血栓形成无影响;无遗传毒性、无局部肌肉刺激反应;包装材料无泄漏、可以阻菌,延长了支架的货架期。     

消旋酶法DL-丙氨酸的遗传毒性研究

目的 评价消旋酶法DL-丙氨酸的遗传毒性.方法 小鼠骨髓细胞微核实验设阴性对照组(纯水)、阳性对照组(环磷酰胺40 mg/kg)和消旋酶法DL-丙氨酸3个剂量组(10000、5000和2500 mg/kg),观察各组小鼠胸骨骨髓细胞微核发生率;小鼠精原细胞染色体畸变实验设阴性对照组(纯水)、阳性对照组(环磷酰胺40 mg/kg)和消旋酶法DL-丙氨酸3个剂量组(10000、5000和2500 mg/kg),观察各组小鼠睾丸精原细胞染色体畸变类型并计算畸变率.细菌回复突变实验(Ames实验)设空白对照组、溶剂对照组、阳性对照组和消旋酶法DL-丙氨酸5个剂量组(50、158、500、1580、5000μg/皿和8、40、200、1000、5000μg/皿),计数各组回复突变菌落数.结果 小鼠骨髓细胞微核实验结果显示,各剂量组消旋酶法DL-丙氨酸微核细胞率与对照组的差异无统计学意义(P>0.05);小鼠精原细胞染色体畸变实验结果显示,各剂量组消旋酶法DL-丙氨酸动物睾丸精原细胞染色体畸变率与对照组的差异无统计学意义(P>0.05);细菌回复突变实验结果显示,在加或不加S9的情况下,各剂量组消旋酶法DL-丙氨酸对TA97a、TA98、TA100、TA102、TA1535菌株均无致突变作用,差异无统计学意义(P>0.05).结论 消旋酶法DL-丙氨酸未见明显遗传毒性.     

遗传和表观遗传机制在先天性心脏病中的研究进展

先天性心脏病是胎儿期心脏及大血管发育异常所致的先天性畸形,是最常见的出生缺陷之一。先天性心脏病病因复杂,染色体异常、基因突变、核酸修饰、非编码RNA等遗传和表观遗传机制在其发生过程中发挥重要作用。现阶段,染色体异常、基因突变等遗传机制已经广泛应用于临床疾病的诊断与治疗。然而,针对遗传及表观遗传修饰在先天性心脏病的诊疗应用仍需深入研究。本文综述了染色体异常、基因突变、拷贝数变异及表观遗传修饰与先天性心脏病发生的关系,以期为进一步探究先天性心脏病早期诊断及个体化治疗提供依据。     

Ocular higher-order aberrations features analysis after corneal refractive surgery

Background  The recent studies have shown that visual performance might be affected by the ocular aberration after the corneal refractive surgery, and try to minimize it. This study was to investigate the effects of photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) on the higher order of wavefront aberration and analysis of their characteristics.
Method  This prospective study involved 32 eyes with similar refractive powers (-5.0 D to -6.0 D preoperatively). LASIK and PRK were performed with the same parameters of 6 mm diameter optical zone and 7 mm diameter transition zone ablation. Wavefront aberrations were tested using a ray tracing technique preoperatively and 3 months postoperatively. Three measurements were obtained for each condition; the root mean squared wavefront error (RMS), values for overall wavefront aberrations and each order of the Zernike aberrations were analyzed using the Matlab software. The 2-tailed t test was used for statistical analysis.
Results  Overall higher order aberrations were increased from (0.550.26) µm preoperatively to (0.930.37) µm for PRK and (0.790.38) µm for LASIK postoperatively. This was a 1.69 fold increase in the PRK group (t=3.95, P<0.001) and a 1.43 fold increase in the LASIK group (t=2.60, P<0.05). At 3 months, the mean RMS value for higher-order (3rd to 6th) were significantly increased compared with the corresponding preoperative values (P<0.05). The fourth order aberrations, spherical like aberration, were dominant by a 2.64 fold in PRK and a 2.31 fold in LASIK. Different influences of the PRK group and LASIK group were shown in the various zernike components. The statistically significant differences were seen in C₄⁰, C₄⁺⁴, C₅⁺¹, C₅⁺³, C₅⁺⁵ and C₆⁺² of the PRK group and C₃^-3, C₄⁰, C₅^-5, C₅⁺⁵, C₆^-2 of the LASIK group, which represents a 7.42, 3.58, 9.21, 2.72 and 5.3 fold increases in PRK group, and 6.40, 10.80, 11.06, 3.47 and 6.09 fold increases in LASIK group, respectively. C₃^-3 in LASIK was higher and C₅⁺¹ and C₅⁺³ were lower than those in the PRK group. C₄⁰ (spherical aberration) values were similar between PRK and LASIK, however, C₃^-1 and C₃¹ (coma) in LASIK were higher than those in PRK, but these differences are of no statistical significance.
Conclusions  PRK and LASIK may increase ocular higher-order aberrations, but they both have their own features. The difference between the two types of surgery may be correlated with the change of the corneal shape, the conversion of biodynamics, the healing of the corneal cut, and re-structured corneal epithelium and/or the stroma.

     

儿童屈光性弱视波前像差的分析

目的了解儿童屈光性弱视波前像差的特点,探讨波前像差在屈光性弱视形成中的作用。方法83例屈光不正性弱视儿童经1%阿托品散瞳3d后进行检影验光,电脑验光、20d后复光,获得矫正视力,并行波前像差检查,观察各类高阶像差的分布,近视、远视及散光对高阶像差的影响,弱视程度与高阶像差的关系。结果眼球总RMS(波前像差的均方根)值与屈光度呈正相关（P＜0.05）,随散光度的增加,高阶像差中的三叶散光、慧差、球差都增加（P＜0.05）。结论像差随屈光度数的增大而增大,散光度数对高阶像差有明显的影响。高阶像差分析有助于了解儿童屈光不正性弱视形成的原因。     

Is KPNB3 Locus Associated With Schizophrenia？

Objective To reconfirm the association of KPNB3 with schizophrenia in Chinese population. Methods Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 at the KPNB3 locus, were genotyped in 304 Chinese Han family trios consisting of fathers, mothers, and affected offsprings with schizophrenia. These 2 SNPs were detected by PCR-based restriction fragment length polymorphism (RFLP) analysis. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was used to perform transmission disequilibrium test (TDT), haplotype analysis, and pair-wise measure of linkage disequilibrium (LD) between these 2 SNPs. Results The genotypic distributions of both rs2588014 and rs626716 were in the Hardy-Weinberg equilibrium (P>0.05). The TDT revealed allelic association with rs626716 (χ2 =9.31, P=0.0023) but not with rs2588014 (χ2 =3.44, P=0.064). The global P-value was 0.0099 for 100 permutations. The haplotype analysis also showed a disease association (χ2 =25.97, df=3, P=0.0000097). Conclusion The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population.     

EFFECTS OF PREOPERATIVE SOFT CONTACT LENS WEAR ON HIGHER-ORDER ABERRATIONS AFTER LASER IN SITU KERATOMILEUSIS

Objective To evaluate the effects of preoperative soft contact lens (SCL) wear on higher-order aberrations(HOAs)correction after wavefront-guided and conventional laser in situ keratomileusis (LASIK).Methods A prospective randomized double-masked comparative study was conducted in 180 eyes of 90 patients scheduled for LASIK, including 92 eyes of 46 patients with previous SCL wear. The patients were divided into four groups: no SCL-conventional group, SCL-conventional group, no SCL-wavefront group and SCL-wavefront group. Preoperative and postoperative examinations included uncorrected visual acuity (UCVA), best spectacle-corrected visual acuity (BSCVA), contrast sensitivity and HOAs.Results The UCVA and BSCVA were 20/20 in all patients at 6 months postoperatively. And 36.3%, 22.7%, 18.1% and 35.4% gained one line or more of BSCVA in no SCL-wavefront group, SCL-wavefront group, no SCL-conventional group and SCL-conventional group, respectively. Both the safety index and efficacy index surpassed one in 4 groups and were highest in no SCL-wavefront group. The increase in root-mean-square (RMS) values of HOAs was significantly lower in no SCL-wavefront group and higher in SCL-wavefront group. At 6 months postoperatively, the increase in RMS of HOAs (RMSh) were 0.67, 1.58, 1.17 and 1.28 in no SCL-wavefront group, SCL-wavefront group, no SCL-conventional group and SCL-conventional group, respectively.Conclusion Preoperative contact lens wear has significant influence on the efficacy of HOAs correction in wavefront-guided LASIK. Patients with contact lens wear preoperatively should be cautious when scheduled for wavefront-guided LASIK.     

优生干预对染色体平衡易位携带者再次妊娠结局的影响

目的探讨优生干预对染色体平衡易位携带者再次妊娠结局的影响。方法对22例染色体平衡易位携带者再次孕前行血清生殖激素水平测定、免疫抗体检测及生殖道炎症检查后，于患者再孕前后分别进行优生干预性治疗并行产前诊断。结果15例患者再次成功妊娠，其中13例（68．2％）已分娩表型正常儿，子代染色体不平衡异常率仅为31．8％，明显低于理论异常率（60％～80％）。结论优生干预可显著提高染色体平衡易位携带者再次妊娠的优生率。     

46,XY单纯性腺发育不全的治疗(附2例报告)

目的 探讨46,XY单纯性腺发育不全病人的病因、临床表现及治疗方法 .方法 对2例染色体核型为46,XY单纯性腺发育不全病人的临床资料进行分析.结果 2例病人的生长和智力发育均正常,两臂与地平行伸展开两手中指的距离等于身高.原发闭经,青春期有女性第二性征发育,有阴毛、腋毛,乳房发育可.病人均有阴道, 行人工周期月经治疗有效.2例行腹腔探查术,术中均可见到发育不良的子宫、发育欠佳的输卵管、条索状性腺组织以及实性包块.手术切除包块及条索状性腺组织,病理诊断均为无性细胞瘤.结论 对生殖器官发育不良病人应常规行染色体检查;对46,XY单纯性腺发育不全病人应尽早切除性腺,通过性激素替代治疗提高病人生活质量.     

胎儿颈项透明层增厚的遗传学检测结果分析

目的 探讨染色体核型分析结合单核苷酸多态性微阵列芯片（single nucleotide polymorphism array,SNP-Array）检测在妊娠早期胎儿颈项透明层（nuchal translucency,NT）增厚中的临床应用价值。方法 选取2017年5月至2022年6月于金华市妇幼保健院因产前超声提示NT增厚而就诊的223例孕妇为研究对象,经羊水穿刺抽取样本进行染色体核型分析和SNP-Array检测,对结果进行整理与分析。结果 胎儿染色体核型分析异常42例（18.8%）,其中非整倍体数目异常32例（76.2%）,结构异常7例（16.7%）,嵌合体3例（7.1%）;6例异常染色体核型分析结果与SNP-Array检测结果不符。SNP-Array检测结果异常50例（22.4%）,36例检测结果与染色体核型分析结果一致,额外发现14例染色体有微缺失或微重复。随着NT值增大,染色体异常检出率上升,但不同NT值间的异常检出率比较差异无统计学意义（P>0.05)。NT增厚结合其他异常指标的染色体异常检出率显著高于单一NT增厚（P<0.01）。结论 NT增厚与胎儿异常染色体关系密切,染色体核型分析联合SNP-Array检测对异常染色体进行检测能够提高异常检出率,做到早发现、早干预,为临床遗传咨询提供帮助。