RESUMO
OBJECTIVE: This study aimed to evaluate the use of high-throughput sequencing (HTS) technology to detect chromosomes in chorionic villus samples of missed abortion embryos and investigate its utility in the genetic diagnosis of missed abortion. PATIENTS AND METHODS: HTS was used to assess chorionic villus samples obtained from 169 patients with missed abortions from August 2020 to March 2022, at the Second Affiliated Hospital of Guangxi Medical University. The test results were statistically analyzed. To investigate the impact of advanced age on the incidence of chromosomal abnormalities, the patients were divided into two groups: elderly (≥35 years) and nonelderly pregnant women (<35 years). RESULTS: (1) Among the samples of 169 patients, 100 (59.17%) cases of chromosomal abnormalities were detected. Among these 100, 90 (90%) had chromosomal numerical abnormalities and 10 (10%) had chromosomal structural abnormalities. (2) Chromosomal numerical abnormality was abnormalities mainly included aneuploidy (92.22%, 83/90), with trisomy (62.22%, 56/90) and monosomy (22.22%, 20/90) accounting for the majority. The top three numerical abnormalities included 18 cases of Turner syndrome (monosomy X; 20%, 18/90), 10 cases of trisomy 16 (11.11%, 10/90), and 10 cases of trisomy 22 (11.11%, 10/90). (3) Villous chromosomal abnormalities were found in 48 (70.59%) elderly pregnant women, and 52 (51.48%) nonelderly pregnant women, with statistically significant differences (p < 0.05). CONCLUSIONS: (1) Chromosomal abnormality is an important cause of missed abortion, it majorly includes chromosomal numerical abnormality, of which most cases are of aneuploidy. (2) Advanced age may increase the risk of embryonic chromosomal abnormalities. (3) Villus chromosome detection using HTS has a positive value and can be used for analyzing and determining the causes of missed abortion.
Assuntos
Aborto Retido , Transtornos Cromossômicos , Aborto Retido/diagnóstico , Aborto Retido/genética , Idoso , Aneuploidia , China/epidemiologia , Vilosidades Coriônicas , Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Mosaicismo , GravidezRESUMO
Presented study aims to explore the predictive values of serum microRNA-22 (miR-22) and miR-126 levels for non-small cell lung cancer (NSCLC) development and metastasis.A total of 127 NSCLC patients who were admitted in the First People's Hospital of Yancheng City from May, 2013 to May, 2015 were selected as the case group, including 71 cases of adenocarcinoma and 56 cases of squamous cell carcinoma. There were 112 healthy individuals selected as the control group. The qRT-PCR was performed to testify the serum miR-22 and miR-126 levels. Logistic regression analysis was conducted to analyze independent factors influencing NSCLC metastasis and receiver operating characteristic (ROC) curve was drawn to analyze the sensitivity and specificity of serum miR-22 and miR-126 levels in predicting NSCLC developments and metastasis.The serum miR-22 level was significantly higher in the case group than that in the control group, while the serum miR-126 level was lower in the case group as compared with that in the control group. Compared with squamous cell carcinoma patients, serum miR-22 level significantly increased, while serum miR-126 level decreased in patients with adenocarcinoma. Patients at III + IV stage showed increased serum miR-22 level and relatively decreased serum miR-126 level as compared to patients at I + II stage. Serum miR-22 level elevated in patients with metastasis; in contrast serum miR-126 level reduced in comparison to those without metastasis. In patients with familial inheritance, serum miR-22 level increased but serum miR-126 level decreased as compared to those without familial inheritance. The specificity and sensitivity of serum miR-22 and miR-126 levels in predicting NSCLC development were 99.11%, 84.30%, 82.68% and 96.40%, respectively. The specificity and sensitivity of serum miR-22 and miR-126 levels in predicting NSCLC metastasis were 59.74%, 96.00%, 84.00% and 62.30%, respectively.Results indicated that serum miR-22 and miR-126 levels may be used as the predicative biomarkers for NSCLC development and metastasis.
Assuntos
Carcinoma Pulmonar de Células não Pequenas/sangue , Neoplasias Pulmonares/sangue , MicroRNAs/sangue , Biomarcadores Tumorais/sangue , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Estudos de Casos e Controles , Humanos , Neoplasias Pulmonares/diagnóstico , Prognóstico , Sensibilidade e EspecificidadeRESUMO
Polyamines such as spermine are thought to be endogenous regulators of NMDA (N-methyl-D-aspartate)-type glutamate receptors. Polyamine block of NMDA receptors was studied in excised outside-out patches from rat hippocampal neurons and Xenopus oocytes expressing recombinant receptors. Extracellular spermine and arcaine reduced NMDA single-channel conductance in a voltage-dependent manner, with partial relief of block evident at large inside negative membrane potentials. Reducing extracellular Na+ concentration increased the apparent affinities for spermine and arcaine, indicating strong interaction between spermine and permeant ions. Internal spermine also blocked NMDA channels in a voltage-dependent manner, with relief of block evident at large inside positive potentials. The Woodhull model of channel block by an impermeant ion adequately described the actions of external spermine from -60 to +60 mV, but failed for more negative potentials. Eyring rate theory for a permeable blocker with two barriers and one binding site adequately described the voltage-dependent block and relief from block by both external and internal spermine over the range of -120 to +60 mV. These findings indicate that polyamines block and permeate neuronal NMDA receptor channels from the extracellular and intracellular sides, although sensitivity to internal spermine is probably too low to be physiologically relevant.