فهرست مطالب rong zhang

Fragile X syndrome (FXS) is a genetic disease with intellectual disabilities. FXS is often caused by the CGG-repeat expansion mutation in the FMR1gene with suppressed FMR1transcription and decreased protein levels in the brain of the patients. The RNA-guided CRISPR/Cas9system is a promising targeted ge-nomic editing tool in gene therapy of FXS. In order to evaluate its feasibility, the present study used CRISPR/Cas9system to target the FMR15’-UTR sites in cultured human neuroblastoma cells.

PCR and DNA clone were used to construct plasmids. CRISPR function was tested by Western blot and flow cytometry. Data were analyzed by a two-tailed unpaired Student’s t-test using GraphPad software. This research was conducted from 2020 to 2022 in the Second Affiliated Hospital of Soochow University, Suzhou, China.

Cell cycle analysis showed significant differences in G1, S and G2/M phases between the two groups (P<0.05). In the knockout cells, apoptosis was accelerated (P<0.05) with a significantlydown-regulated (P<0.05) expression of FMRP as compared with the control group.

This study provides further understanding about the FMRP function and molecular mechanism of FMR1gene in nerve cells, and suggests the feasibility of gene therapyin FXS by CRISPR/Cas9gene editing system.

To assess the clinical value of two-dimensional (2D) plus four-dimensional (4D) ultrasonography in diagnosis of fetal craniocerebral anomalies. Retrospective analysis was performed on the sonographic features of 83 maternity patients admitted to Northwest Women’s and Children’s Hospital, Xian China from January 2013 to December 2017 diagnosed with suspected fetal anomalies of the brain and skull through 2D and 4D ultrasonography. Fifty six patients were diagnosed with the anomalies by 2D ultrasonography only, 65 patients by 4D ultrasonography only, and 74 patients by 2D plus 4D ultrasonography.76 patients were confirmed to have fetal craniocerebral anomalies after birth or induced labor. Diagnostic accuracies of 2D ultrasound only, 4D ultra-sound only, and 2D plus 4D ultrasound were 68.67%, 81.93% and 95.18%, respectively (P<0.05). The accuracy of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only, and the accu-racy of 4D ultrasound only was higher than that of 2D ultrasound only (P<0.05). The sensitivity of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only (P<0.05). The specificity of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only (P<0.05). Combined ultrasonography can better differentiate fetal craniocerebral anomalies, providing early and more accurate information for clinicians as well as maternity patients to make a decision. This clinical prac-tice would be valuable for improving the quality of the newborn population.

Leukemia patients can easily become hypoimmunity after hemopoietic stem cell transplantation, endogenous infection often happens in these patients. Meanwhile, Klebsiella pneumoniae is often isolated from various specimens in inpatient. It can lead to infections in the whole body, especially in those immunosuppressed patients.
A 22-year-old girl with complete remission after chemotherapy for her acute lymphoblastic leukemia was presented to the 2nd affiliated hospital of Zhejiang University for hemopoietic stem cell transplantation. She got a good check-up, however, her spirit was a little bad. Her primitive lymphocyte (0.06%) and total lymphocyte (27.05%) in the peripheral blood were in the normal range. She received a 224 mL stem cell transfusion including mononuclear cell (4.87 × 108/kg) CD34 (0.6%) as well as reached the transplantation threshold of CD34 cell (3 × 106/kg). Nine days after transplantation, there were no severe side effects except a little bit of vomit. However, the symptom of diarrhea appeared first. K. pneumoniae was isolated from the stool, then invaded into the blood, and caused sepsis. It disseminated and caused multi-sites infection.
It should be kept in mind that K. pneumoniae can translocate across the intestinal epithelium. It is important to pay attention to the bacterium isolated from the intestine in immunosuppressed patients.