Search

Qi-Ge Qi,1,* Ya Tuo,2,* Li-Xue Liu,2,* Cong-Xiang Yu,2,* Ai-Ning Wu2 1Department of Clinical Laboratory and Pathology, The 969th Hospital of P.L.A., Hohhot, Inner Mongolia, 010051, People’s Republic of China; 2Department of Obstetrics and Gynecology, The Affiliated Hospital of Inner Mongolia Medical University, Inner Mongolia University, Hohhot, Inner Mongolia, 010050, People’s Republic of China*These authors contributed equally to this workCorrespondence: Ai-Ning WuDepartment of Obstetrics and Gynecology, The Affiliated Hospital of Inner Mongolia Medical University, Inner Mongolia University, No. 1 Of Tongdao North Road, Hui District, Hohhot, Inner Mongolia, 010050, People’s Republic of ChinaTel +86 0471-6636630Email wuaining_vu@163.comObjective: The present study aimed to evaluate and analyze the results of karyotyping by amniocentesis and next generation sequencing (NGS)-based noninvasive prenatal DNA testing (NIPT) for the prenatal diagnosis of fetal chromosomal disorders.Methods: A total of 2267 high-risk pregnant females with the indications for prenatal diagnosis who met the enrollment criteria between January 2015 and May 2019 at the Affiliated Hospital of Inner Mongolia Medical University were included and underwent NGS-based NIPT in the present study. Amniocentesis, chromosome karyotyping by cell culture, and follow-up of the pregnancy outcomes were also conducted in the NIPT-positive pregnant females to assess the consistency between NIPT and results of karyotyping by amniocentesis.Results: Among the 2267 cases, 29 cases were positive for NIPT, including 10 cases with a high risk of trisomy 21, 2 cases with a high risk of trisomy 18, 2 cases with a high risk of chromosome 13, and 20 cases with sex chromosome abnormalities. All the above NIPT-positive cases underwent amniocentesis, and 20 cases were eventually diagnosed. The sensitivity and specificity of NIPT for the diagnosis of trisomy 21, trisomy 13, and trisomy 18 were 100%, 99.96%, 100%, and 99.96%, 100%, 100%, respectively, and the positive predictive values were 91.67%, 66.67%, and 100%, respectively.Conclusion: NGS of the fetal free DNA from the peripheral blood of pregnant females was an important complement to the prenatal diagnosis of chromosomal disorders represented by fetal chromosome aneuploidy with high sensitivity and specificity. In combination with the traditional karyotyping by amniocentesis, it could improve the diagnostic efficacy for fetal chromosomal disorders.Keywords: next generation sequencing, karyotyping by amniocentesis, prenatal diagnosis, prenatal screening, fetal free DNA

To investigate correlation between abnormal replicative senescence of endometrial gland epithelial cells (EGECs) in shedding and non-shedding endometria and endometriosis cyst during menstruation. Musashi-1 expression, β-catenin expression, and EGECs ultrastructure in shedding and non-shedding endometrium when menstruation were observed through real-time PCR and transmission electron microscopy technologies. (1) Musashi-1 and β-catenin exhibited a high expression in shedding and non-shedding endometria in experimental group, showing a positive correlation between each other; and were significantly higher than that in control group. However; there was no correlation between these two in control group. (2) Transmission electron microscopy results: In experimental group, organelles in EGECs in shedding endometrium obtained were abundant on the first day of menstruation, nuclei were irregular, double nucleoli could be observed, and chromatin was rich. Furthermore, morphology of EGECs in non-shedding endometrium was irregular, organelles were abundant, basement membrane was irregular with abnormal curvature, and a large amount of collagenic fibers were found in intercellular spaces. On the fifth day of menstruation, the cilia and microvilli on secretory cells in endometrium increased and prolongated, and organelles became extremely rich. EGECs have potentials of division, proliferation, invasion and migration; and is associated with formation of endometriosis cysts.摘要 本研究目的是探究月经期间脱落和未脱落子宫内膜腺上皮细胞（endometrial gland epithelial cells, EGECs）的异常复制衰老与子宫内膜异位囊肿的相关性。通过实时PCR和透射电子显微镜技术观察月经期间脱落和未脱落子宫内膜中Musashi-1和β-catenin的表达以及EGECs的超微结构。（1）Musashi-1和β-catenin在实验组脱落和未脱落子宫内膜中存在高表达, 两者呈正相关, 并且显著高于对照组。然而, 在对照组中这两者之间无相关性。（2）透射电镜结果：实验组在月经第一天获得的脱落子宫内膜中EGECs所含的细胞器丰富, 细胞核不规则, 可见双核仁, 染色质丰富。此外, 在未脱落的子宫内膜中EGECs形态不规则, 细胞器丰富, 基底膜不规则, 曲率异常, 细胞间隙存在大量胶原纤维。在月经第5天, 子宫内膜分泌细胞上的纤毛和微绒毛增多并延长, 细胞器变得极为丰富。EGECs具有分裂、增殖、侵袭和迁移的潜力, 并且与子宫内膜异位囊肿的形成有关。.

Post-mortem interval (PMI) estimation is one of the most challenging tasks in forensic practice. Therefore, for PMI estimation, attenuated total reflection Fourier transform infrared (ATR-FTIR) spe...

Despite the progress that has been made during the past several decades in forensic pathology, post-mortem diagnosis of hyperthermia remains difficult. The current study aimed to investigate the spectral changes in rat liver under hyperthermic conditions compared with the control groups of fatal asphyxiation, brainstem injury, and massive haemorrhage, using Fourier transform infrared (FTIR) microspectroscopy. Forty Sprague–Dawley rats were randomly divided into four groups: hyperthermia; asphyxiation; brainstem injury; and massive haemorrhage. The absorbance of ten major absorption bands (1238, 1307, 1396, 1454, 1540, 2850, 2919, 2958, 3070 and 3290 cm−1) was significant higher in the hyperthermia group compared with the groups of asphyxiation, brainstem injury and massive haemorrhage. The band absorbance ratios of A2958/A2850 and A1650/A1540 were significantly lower, whereas the A1454/A1238, A1396/A1238 and A1307/A1238 ratios were significantly higher in the hyperthermia group compared with the other thr...

The aim of this study was to investigate the changes of Fourier transform infrared (FT-IR) spectra of rat liver and spleen tissues from time zero to 144 h postmortem. The absorbance (Ax represents the infrared absorbance at wavenumber x cm−1) ratios of major absorbance bands were examined. A 3303/A 2925, A 1647/A 1541 (liver), A 1238/A 1338, A 1153/A 1338 (liver), A 1080/A 1338, and A 1030–1050/A 1338 (liver) showed a decrease postmortem, whereas the A 1396/A 1456 ratio (spleen) showed an increase. Furthermore, these absorbance ratios showed a strong linear relationship with increasing time postmortem, and the A 1238/A 1338 ratio of spleen offered a stronger correlation (R 2 = 0.88) than did the others. A new absorbance band appeared at 1120 cm−1 for the liver and spleen at 120 h postmortem and another new band appeared at 1170 cm−1 for the liver, but the existing absorbance band at 1170 cm−1 disappeared in the spleen. Our initial results demonstrate that the quantitative analysis of FT-IR spectr...