Child ; Humans ; Case-Control Studies ; East Asian People ; Genetic Predisposition to Disease/genetics* ; Methyltransferases/genetics* ; Polymorphism, Genetic ; Wilms Tumor/pathology*

OBJECTIVE: To compare the effectiveness of O-arm navigation and ultrasound volume navigation (UVN) in guiding screw placement during minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) surgery. METHODS: Sixty patients who underwent MIS-TLIF surgery for lumbar disc herniation between June 2022 and June 2023 and met the selection criteria were included in the study. They were randomly assigned to group A (screw placement guided by UVN during MIS-TLIF) or group B (screw placement guided by O-arm navigation during MIS-TLIF), with 30 cases in each group. There was no significant difference in baseline data, including gender, age, body mass index, and surgical segment, between the two groups ( P>0.05). Intraoperative data, including average single screw placement time, total radiation dose, and average single screw effective radiation dose, were recorded and calculated. Postoperatively, X-ray film and CT scans were performed at 10 days to evaluate screw placement accuracy and assess facet joint violation. Pearson correlation and Spearman correlation analyses were used to observe the relationship between the studied parameters (average single screw placement time and screw placement accuracy grading) and BMI. RESULTS: The average single screw placement time in group B was significantly shorter than that in group A, and the total radiation dose of single segment and multi-segment and the average single screw effective radiation dose in group B were significantly higher than those in group A ( P<0.05). There was no significant difference in the total radiation dose between single segment and multiple segments in group B ( P>0.05), while the total radiation dose of multiple segments was significantly higher than that of single segment in group A ( P<0.05). No significant difference was found in the accuracy of screw implantation between the two groups ( P>0.05). In both groups, the grade 1 and grade 2 screws broke through the outer wall of the pedicle, and no screw broke through the inner wall of the pedicle. There was no significant difference in the rate of facet joint violation between the two groups ( P>0.05). In group A, both the average single screw placement time and screw placement accuracy grading were positively correlated with BMI ( r=0.677, P<0.001; r=0.222, P=0.012), while in group B, neither of them was correlated with BMI ( r=0.224, P=0.233; r=0.034, P=0.697). CONCLUSION UVN-guided screw placement in MIS-TLIF surgery demonstrates comparable efficiency, visualization, and accuracy to O-arm navigation, while significantly reducing radiation exposure. However, it may be influenced by factors such as obesity, which poses certain limitations.
Humans ; Imaging, Three-Dimensional ; Lumbar Vertebrae/surgery* ; Minimally Invasive Surgical Procedures ; Pedicle Screws ; Retrospective Studies ; Spinal Fusion ; Surgery, Computer-Assisted ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVE: To explore the clinical phenotype and genetic etiology of a child with early-onset severe obesity. METHODS: A child who presented at the Department of Endocrinology, Hangzhou Children's Hospital on August 5, 2020 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing (WES) was carried out on the child. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: This child was a 2-year-and-9-month girl featuring severe obesity with hyperpigmentation on the neck and armpit skin. WES revealed that she has harbored compound heterozygous variants of the MC4R gene, namely c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp). Sanger sequencing confirmed that they were respectively inherited from her father and mother. The c.831T>A (p.Cys277*) has been recorded by the ClinVar database. Its carrier frequency among normal East Asians was 0.000 4 according to the 1000 Genomes, ExAC, and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as pathogenic. The c.184A>G (p.Asn62Asp) has not been recorded in the ClinVar, 1000 Genomes, ExAC and gnomAD databases. Prediction using IFT and PolyPhen-2 online software suggested it to be deleterious. Based on the guidelines from the ACMG, it was determined as likely pathogenic. CONCLUSION The c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp) compound heterozygous variants of the MC4R gene probably underlay the early-onset severe obesity in this child. Above finding has further expanded the spectrum of MC4R gene variants and provided a reference for the diagnosis and genetic counseling for this family.
Female ; Humans ; Computational Biology ; East Asian People ; Genetic Counseling ; Genomics ; Mutation ; Obesity, Morbid/genetics* ; Child, Preschool ; Pediatric Obesity/genetics*

To enhance the accuracy of computer-aided diagnosis of adolescent depression based on electroencephalogram signals, this study collected signals of 32 female adolescents (16 depressed and 16 healthy, age: 16.3 ± 1.3) with eyes colsed for 4 min in a resting state. First, based on the phase synchronization between the signals, the phase-locked value (PLV) method was used to calculate brain functional connectivity in the θ and α frequency bands, respectively. Then based on the graph theory method, the network parameters, such as strength of the weighted network, average characteristic path length, and average clustering coefficient, were calculated separately (
Adolescent ; Brain/diagnostic imaging* ; Diagnosis, Computer-Assisted ; Electroencephalography ; Female ; Humans ; Support Vector Machine

The development of genome editing techniques based on CRISPR (Clustered regularly interspaced short palindromic repeats)-Cas9 system has revolutionized biomedical researches. It can be utilized to edit genome sequence in almost any organisms including Caenorhabditis elegans, one of the most convenient and classic genetic model animals. The application of CRISPR-Cas9 mediated genome editing in C. elegans promotes the functional analysis of gene and proteins under many physiological conditions. In this mini-review, we summarized the development of CRISPR-Cas9-based genome editing in C. elegans.

Objective: The present study was designed to evaluate the protective effects of oligomeric proanthocyanidins (OPC) in mice exposed to paraquat (PQ) , and to explore the molecular mechanism. Methods: Four experimental groups were designed. Control group: 10 BALB/c mice were intraperitoneally injected with normal saline) . PQ group: 10 BALB/c mice were intraperitoneally injected with PQ (100 mg/kg) . PQ+OPC group: 10 BALB/c mice were administered with OPC (100 mg/kg) for 1 h before PQ (100 mg/kg) expo-sure. OPC group: 10 BALB/c mice were intraperitoneally injected with OPC (100 mg/kg) . The peripheral blood samples or lung tissue samples were collected at the designed time points for measuring the levels of oxi-dative stress indicators, the related protein levels of nuclear factor-kappa B (NF-κB) pathway and nuclear fac-tor erythroid related factor-2 (Nrf2) pathway. Results: Compared with the control group, the level of reactive oxygen species (ROS) , the content of malondialdehyde (MDA) in the PQ group were significantly induced, and the activity of superoxide dismutase (SOD) in the PQ group was decreased in the peripheral blood. As com-pared with the PQ group, the level of ROS and the content of MDA in the PQ+OPC group were significantly re-duced, the activity SOD in the PQ+OPC group was increased in the peripheral blood; the level of ROS and the content of MDA were also reduced in lung tissues in the PQ+OPC group. Moreover, compared with the con-trol group, the phosphorylation of IκBα and the expression of NF-κB p65 were increased in lung tissues in the PQ group. The phosphorylation of IκBα and the expression of NF-κB p65 were decreased in lung tissues in the PQ+OPC group as compared with the PQ group. In addition, compared with the control group, the expressions of HO-1 and Nrf2 were increased in lung tissues in OPC group, and these were decreased in lung tissues in PQ groups. Furthermore, the expressions of HO-1 and Nrf2 were also increased in lung tissues in PQ+OPC as com-pared with the PQ group. Conclusion OPC could alleviate PQ-induced systemic toxicity in mice by regulating oxidative stress via NF-κB and Nrf2 pathway.

Objective To evaluate the accuracy of prediction equations in calculating energy expenditure in elderly patients with type 2 diabetes mellitus (T2DM).Methods In 75 elderly T2DM patients hospitalized in our hospital between August 2014 and August 2015,the resting energy expenditure (REE)measured with indirect calorimetry was compared with those calculated with six different prediction equations.Statistical analysis was performed with paired t-test,the percentage of individual coincidence,and BlandAltman method.Results The measured REE of the patients was (1 513.2 ± 240.6) kcal/d.There were statistically significant differences between the measured REE and the values predicted with Harris-Benedict,Owen,Mifflin,and Liu equations (all P ＜ 0.05),while no statistically significant differences were observed between the measured REE and the values predicted with FAO/WHO/UNU and Schofield equations (both P ＞0.05).FAO/WHO/UNU equation showed the smallest average difference from the measured value (-18.9 kcal/d),but the 95％ consistency limit (-363.3 kcal/d,325.5 kcal/d) was still beyond the acceptable clinical range.Conclusion The accuracy of prediction equations in estimating REE in elderly patients with T2DM may be dissatisfactory.

BACKGROUND:Erythropoietin and progenitor cel transplantation both have therapeutic effects on lower extremity arterial occlusive disease.
OBJECTIVE:To investigate the erythropoietin modification effect and magnetic resonance imaging feasibility of superparamagnetic iron oxide (SPIO)-labeled endothelial progenitor cel s in vitro.
METHODS:Rat bone marrow-derived endothelial progenitor cel s at logarithmic growth phase were randomized into four groups:endothelial progenitor cel group, SPIO labeled transfection group (pcDNA3-EPO transfection fol owed by SPIO labeling), SPIO labeled empty vector group (empty plasmid transfection fol owed by SPIO labeling), and SPIO labeling group (only SPIO labeling). 4.7T MRI was used to observe SPIO-labeled endothelial progenitor cel s. Cel proliferation, cel cycle distribution, and expression of erythropoietin protein in the four groups were measured.
RESULTS AND CONCLUSION:MRI findings showed with the increasing cel number, gradual y lowered signal intensity on T1-weighted imaging (T1WI), T2WI and T2*WI was seen, and the reduction in the signal intensity was the maximum on T2*WI sequence and the minimum on T1WI sequence. For T1WI, T2WI and T2*WI sequences, the minimum number of cel s was 2×104, 1×104 and 0.5×104, respectively. Cel proliferation and cel cycle distribution showed no significant difference among three SPIO labeling groups. In addition, the expression of erythropoietin protein was only found in the SPIO-labeled transfection group. These findings showed that under SPIO labeling, erythropoietin gene-modified endothelial progenitor cel s show no changes in cel proliferation and cel cycle, and the 4.7T MR is capable of imaging SPIO-labeled erythropoietin gene-modified endothelial progenitor cel s in vitro.

Objective To study the effects of evidence-based nursing on quality of life and negative emotions in young and middle-aged patients with angina pectoris.Methods From August 2014 to August 2015, 102 angina pectoris patients,who were treated in cardiology department,were recruited and divided randomly into experimental group and control group.The patients of experimental group were treated with evidence-based nursing,while the patients of control group were treated with medical routine nursing care.Results Psychological status,the sleep quality,social activities and physical function scor es in experimental group were higher than those in control group,with statistical significance (P <0.05).The effective rate of experimental group was 96.1 %,while the control group was 70.6%,there was a significant difference between the two groups(P <0.05).Conclusions Evidence-based nursing in patients with angina pectoris,can improve effective rate and the knowledge level of clinical nurses,and reduce the patients′pain,so it is worth promoting.

Objective To develop a detection method based on the technology of gene chips which can quickly distinguish genes of Enterococcus faecalis, E.faecium and vancomycin resistance.Methods Based on the specific gene ( ddl) sequences of two types of Enterococcus from GenBank, oligonucleotide probes which could detect and distinguish special genes and drug resistance genes ( vanA,vanB) of Enterococcus were designed and compounded.Then,the probes were dotted to modified slide.The target DNA fragments of vancomycin-resistant Enterococcus ( VRE) were labeled with biotin by multiple PCR amplification, and then hybridized with oligonucleotide probes on slide.The results were analyzed by portable imager.The multiple PCR system, hybridization reaction and condition of the chemiluminescence method were optimized before the specificity, sensitivity and reproducibility of the chip were evaluated.Results One universal primer, four specific primers, one universal probe and four specific probes were selected.This gene chip was demonstrated of high specificity and repeatability.The detection sensitivity was 103 CFU/ml.The gene chip detection results of 10 clinical samples were basically consistent with the drug sensitivity test ( 8/10 ) .Conclusion A gene chip technique for the detection of VRE is established successfully.It is possible to distinguish the type of VRE and detect the genetic phenotypes of drug resistance by gene chip technique.