Clinical phenotype and genetic analysis of twelve children with ring chromosomes / 中华医学遗传学杂志

OBJECTIVE@#To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development.@*METHODS@#From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis.@*RESULTS@#Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.16% and included 1 r(6), 2 r(9), 1 r(13), 1 r(14), 2 r(15), 1 r(21) and 3 r(X). The children had various clinical manifestations including growth and mental retardation, limb malformation, and congenital heart disease. For two children with r(9) and two with r(15) with similar breakpoints, one child with r(9) and one with r(15) only had growth retardation, whilst another with r(9) and another with r(15) also had peculiar facies and complex congenital heart disease. The r(X) has featured some manifestations of Turner syndrome.@*CONCLUSION@#Ring chromosomes are among the common causes for severe growth and mental retardation in children with diverse clinical phenotypes. Clinicians should pay attention to those with developmental anomalies and use chromosomal analysis to elucidate their genetic etiology.

Value of high throughput sequencing in noninvasive prenatal screening / 实用医学杂志

Objective To assess the clinical value of high throughput seuencing (HTS) in noninvasive prenatal testing (NIPT). Methods The results of NIPT of 2 256 cases of women with singleton pregnancy were retrospectively reviewed. Free fetal DNA in maternal peripheral blood was sequenced using HTS, and bioinformatic analysis techniques. Prenatal diagnosis was performed through amniocentesis when NIPT indicated high risks. High risk results from non-invasive screening of fetal chromosomal and prenatal diagnosis were compared. Results All of the 2, 256 specimens were successfully analyzed and 35 cases were found with fetal chromosomal high risks, with an overall detection rate of 0.58％, including 13 cases with high risk for trisomy 21, 1 with trisomy 18, 1 with trisomy 13, 15 with sex chromosome abnormality and 5 with other chromosomal structures abnormality. All the 34 cases had further prenatal diagnosis except 1 case of pregnant woman with high-risk 13-trisomy who took abortion directly and refused further examination. Among 12 cases with high risk for 21-trisomy, 1 with 18-trisomy, 5 with sex chromosome abnormalities and 1 with the deletion of chromosome, 3 were confirmed by traditional karyotyping and/or single nucleotide polymorphism microarray (SNP-array) technology. The coincidence rate of abnormally high risk results of NIPT detection in fetal chromosomal and prenatal diagnosis were 92.85％, 100％, 33.33％ and 20％respectively. Conclusion There is a relatively high positive coincidence rate when compared HTS for screening of high risk for trisomy 21, 18, 13 aneuploidy and prenatal diagnosis and HTS is reliable. While when it comes to the screening of sex chromosome and other chromosomal structures abnormality, HTS still need to be improved and optimized.

Prenatal diagnosis of women with an adverse reproductive history using both traditional karyotyping and SNP-array / 中华妇产科杂志

Objective To explore the occurrence of fetal chromosomal abnormalities among pregnant women with an adverse reproductive history using traditional karyotyping and single nucleotide polymorphism microarray(SNP-array)technology.Methods Totally 94 in 2 163(4.35%)cases of singleton pregnant women with an adverse reproductive history were performed amniocentesis in Jinhua Maternal and Child Health Care Hospital from June 2015 to June 2017. Traditional karyotyping and SNP-array were employed simultaneously for prenatal diagnosis,and the detection rates of the two methods were compared. Results All of the 94 specimens were successfully analyzed, 11 cases were found with chromosomal anomaly, the overall detection rate was 11.7%(11/94). Seven (7.4%,7/94) abnormalities cases were detected by karyotyping,and 7(7.4%)by SNP-array.The karyotyping results of trisomy 21,and 45,X and the deletion of chromosome 13 were consistent with SNP-array.Only 3(3.2%,3/94)microdeletion/duplications (the sizes of duplications and deletions were between 422.4-1 708.4 kb)and 1(1/4)loss of heterozygosity were detected by SNP-array,but were missed by karyotyping.Furthermore, 2 cases′copy number variation were found pathogenic gene related, while the other 2 were considered benign or variant of uncertain significance. Four cases(4/7)of abnormalities were detected by karyotyping, while confirmed balanced translocation and inversion by SNP-array.All patients were informed and chosen to continue the pregnancy.Conclusions The rate of abnormal fetal chromosomes in pregnant women with an adverse reproductive history is still high.SNP-array is a new molecular genetic technique,and combined with use of traditional karyotyping,it could improve the detection rate of fetal chromosomal abnormalities and reduce abortion rate, thus providing a basis for genetic counseling and prenatal diagnosis.

Application of double-low technique to aortic MSCTA / 医疗卫生装备

Objective To discuss the feasibility of double-low technique applied in aortic MSCTA.Methods Totally 70 patients with BMI not more than 25 kg/m2 were divided into a routine group and an experimental group randomly and equally,and then went through aortic MSCTA.Iohexol (350 mgI/ml) was injected with the velocity of 4 ml/s.The routine group had the parameters as 120 kV,120 mAs and 1.5 ml/kg contrast agent,and the experimental group had the parameters as 90 kV,120 mAs and 1.0 ml/kg contrast agent,while the other scanning parameters were kept the same in the two groups.The radiation doses,contrast agent doses and iodine contents were recorded in the two groups,and the image quality was assessed with double-blind method objectively and subjectively.Results The experimental group had the CT dose index volumes (CTDIvol),dose length product (DLP) and effect dose (ED) significantly lower than those in the routine group (P＜0.05).The two groups had the consistency of subjective scores (Kappa＞0.6) and image quality scores (not lower than 2) meet the desired requirements,and there were no significant differences between the scores (P＞0.05).Objective evaluation showed that the signal values of aortic trunk and major branch vessels as well as image noise SD of the experimental group were obviously higher than those in the routine group (P＜0.05).There were no statistical differences between the signal noise ratios (SNR) and contrast to noises (CNR) in the two groups (P＞0.05),The iodine content in the contrast agent of the experimental group was significantly lower than that in the routine group (P＜0.05).Conclusion Double-low technique applied in aortic MSCTA of the patient with BMI not more than 25 kg/m2 reduces the radiation dose and iodine content in the contrast agent,has the image quality meet the desired requirements,and thus is of great value for clinical application.

Endophytic fungi from Ginkgo biloba and their biological activities / 中国中药杂志

<p><b>OBJECTIVE</b>To research the isolation method, identification and screen for bioactivities endophytic fungi from ginkgo.</p><p><b>METHOD</b>Endophytic fungi from ginkgo were separated. By means of microdilution method, activities of endophytes against pathogenic fungi were tested. Then, using DPPH, the antioxidant activities were measured.</p><p><b>RESULT</b>Nine strains (16.1%) showed antifungal activities against Candida albicans, Cryptococcus neoformans, Trichophyton rubrum and Aspergillus fumigatus. Among these bioactive strains, the growth of T. rubrum was strongly inhibited by T-1-2-1, as the MIC80 was equal to fluconazole, the positive control. Five strains (8.9%) showed antioxidant activities. Among them sample T-3-2-2 and T-6-5-7 showed the strongest antioxidant activities.</p><p><b>CONCLUSION</b>Endophytic fungi of ginkgo would be potential and rich resources for drug development.</p>