Family analysis of primary microcephaly caused by complex heterozygous variants of the RTTN gene and literature review / 中国儿童保健杂志

【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.

Analysis of blocking antibody and lymphocyte subsets in elderly patients with recurrent spontaneous abortion / 中国综合临床

Objective:To explore the relationship between blocking antibody and lymphocyte subsets in elderly patients (age≥35 years old) with recurrent spontaneous abortion(RSA).Methods:A retrospective case-control study was conducted on the patients with recurrent spontaneous abortion who met the inclusion criteria from October 2014 to September 2019 in the Reproductive Center of Women Health Center of Shanxi.They were divided into two groups according to their ages: 66 cases in RSA group and 334 cases in normal pregnant age group.The blocking antibody and lymphocyte subsets were detected by flow cytometry.Results:The negative rate of blocking antibody in elderly recurrent spontaneous abortion patients was 77.27% (51/66), which was not significantly different from that in normal gestational recurrent spontaneous abortion patients (83.53%(279/334)) ( P=0.221), but significantly higher than that in normal women (23.46%(42/179)) ( P=0.001). The blocking antibody′s blocking efficiency results showed that the CD3′s blocking efficiency of elderly recurrent spontaneous abortion patients (0.10 (-0.50, 0.60)) was significantly lower than that of normal women (0.60 (0.00, 1.30)), the difference was statistically( P=0.001). The CD8 blocking efficiency of elderly recurrent spontaneous abortion patients (0.00 (-0.60, 0.63)) was significantly lower than that of normal women (0.30 (0.00, 0.70)), the difference was statistically( P=0.016). Lymphocyte subsets showed that the CD8 + T cell ratio in elderly recurrent spontaneous abortion patients (26.93±7.25) was significantly lower than that in normal gestational recurrent spontaneous abortion patients (29.22±7.29), the difference was statistically significant ( P=0.020). The CD4 + /CD8 + ratio in elderly recurrent spontaneous abortion patients (1.64±0.99) was significantly higher than that in normal gestational age recurrent spontaneous abortion patients (1.37±0.50), the difference was statistically significant ( P=0.030). The ratio of natural killer cells in elderly recurrent spontaneous abortion patients (16.13±7.10) was significantly higher than that in normal women (14.04±2.35), the difference was statistically significant ( P=0.022), and higher than that in normal gestational age recurrent spontaneous abortion women (15.57±7.02). Conclusion:There were differences in lymphocyte subsets between elderly RSA patients and normal pregnant women, and the increase of natural killer cell ratio may be an important factor in the occurrence of RSA, especially in elderly RSA patients.

Diagnostic value of flow cytometry in detecting human papillomavirus E6／E7 mRNA in cervical lesions / 中国综合临床

Objective To explore the diagnostic value of flow cytometry in detecting HPV E6／E7 mRNA of human papilloma virus (HPV) in the diagnosis of cervical lesions. Methods From January 2017 to September 2018,119 women with suspected cervical lesions in the department of gynecology and obstetrics of Shanxi Maternal and Child Health Hospital were selected. Flow cytometry was used to detect HPV E6 ／ E7 mRNA in cervical exfoliated cells of women,and the DNA of HPV was detected by the method of hybrid capture 2 (HC2). Results 31. 09%(37／119) HPV E6／E7 mRNA and 57. 14%(68 ／ 119) HPV DNA were positive in 119 cases. The positive rate of HPV E6／E7 mRNA in cervical intraepithelial neoplasia ( CIN)2+ group was 77. 78%(28／36),which was statistically significant compared with 20. 00%(4／20) in CIN1 group (χ2＝15. 246,P＜0. 01),and was statistically significant compared with 7. 94%(5／63) in nilm group (χ2＝50. 286,P＜0. 01) . In nilm group,HPV E6 ／ E7 mRNA positive rate was 7. 94%(5／63) and HPV DNA positive rate was 30. 16%(19 ／ 63),which was statistically significant (χ2＝10. 088,P＝0. 001) . In cin1 group,HPV E6／ E7 mRNA positive rate was 20. 00%(4 ／ 20) and HPV DNA positive rate was

An investigation based on health empowerment theory into middle-aged and young patients undergoing peritoneal dialysis / 现代临床护理

Objective To investigate the status quo of returning to the society of middle-aged and young patients undergoing peritoneal dialysis based on the health empowerment theory. Methods Using the purposive sampling method, 11 patients were interviewed. The interview results were analyzed using Colaizzi analysis and the keywords were extracted. Result A total of 9 keywords were extracted, including beliefs and attitudes ( the sense of responsibility, economic burden and social needs to be met);knowledge and ability ( ability to maintain normal peritoneal dialysis but lack of the ability to solve related complications and decreased work ability after returning to society);related to action and performanc ( limited occupational self-development after returning to society,related to social support and resources:more social support, guidance in chronic disease management and proper social welfare). Conclusions Returning to society can improve the living conditions of middle-aged and youth patients with peritoneal dialysis although they can run into troubles in economic conditions, fatigue, and lack of disease management knowledge and ability. Medical workers should provide them with instructions on disease management knowledge, strengthen social support system other than their families and help them out of the troubles so that they can return to society and enhance their life of quality.

Breeding and identification of Wuzhishan miniature pigs with α-1,3-galactosyltransferase gene-knockout / 器官移植

To summarize the breeding and identification of Wuzhishan miniature pig models with α-l,3-galactosyltransferase (GGTA1) gene-knockout (GTKO).Methods The breeding and reproduction perform of GTKO Wuzhishan miniature pigs were assessed and the quantity of piglets was counted.The GTKO Wuzhishan miniature pig models with GGTA1gene knockout were validated by polymerase chain reaction(PCR).The αGal phenotype of peripheral blood mononuclear cells (PBMC) in human,wild-type Wuzhishan miniature pigs and GTKO Wuzhishan miniature pigs was detected by fluorescent microscope and flow cytometry.Routine blood test parameters were statistically compared between the GTKO and wild-type Wuzhishan miniature pigs.Results The inheritance of GGTA1 genotype complied with Mendel's law.Flow cytometry detected no fluorescent expression of PBMC in GGTA1-/-pig models,which were consistent with the genotype identification results.The mean piglets of the primiparous GTKO Wuzhishan miniature pigs were (6.8±1.8) and (8.3±2.2) for the multiparous Wuzhishan miniature pigs.No statistical significance was noted in routine blood test parameters between the GTKO and wild-type Wuzhishan miniature pigs (all P＞0.05).Conclusions Stable inheritance and normal reproductive capacity are observed in two generations of Wuzhishan miniature pigs continuously.GTKO Wuzhishan miniature pig is a reliable donor for heterogeneous organ transplantation.

Preparation and Characteristic of Monoclonal Antibodies against Tetrodotoxin / 第二军医大学学报

0.05). (4) The result of detoxincation in- vivo was not as good as that of antiserum.