[Diagnostic value and influencing factors of endobronchial ultrasound-guided transbronchial needle aspiration combined with Xpert MTB/RIF for intrathoracic lymph node tuberculosis].

Objective: To evaluate the sensitivity of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) puncture to obtain intrathoracic lymph node samples combined with Xpert MTB/RIF (Xpert) detection for the diagnosis of intrathoracic lymph node tuberculosis. Methods: From March 2018 to June 2021, 106 patients [55 males and 51 females, age (45.1±18.6) years] with suspected intrathoracic lymph node tuberculosis and EBUS-TBNA were collected in Zhejiang Hospital of Integrated Traditional Chinese and Western Medicine, including 64 patients with subsequent diagnosis of intrathoracic lymph node tuberculosis and 42 patients without tuberculosis. Xpert test and traditional etiology test were performed on the patients' intrathoracic lymph node puncture specimens. The positive results of different detection methods and different methods were analyzed, and the influencing factors of Xpert independent detection positive were analyzed by univariate and multivariate logistic regression. Results: The sensitivity of Xpert was 65.6% (95%CI: 52.7%-77.1%), the specificity was 97.6% (95%CI: 87.4%-99.9%), the positive predictive value was 97.7% (95%CI: 85.7%-99.7%), the negative predictive value was 65.1% (95%CI: 57.0%-72.4%). The positive rate of Xpert alone (65.6%, 42/64) was not significantly different from that of MGIT960, histopathology and Xpert combined detection (70.3%, 45/64) (P<0.05). Multivariate logistic regression analysis showed that the location of the diseased lymph nodes in the mediastinum (OR=5.84, 95%CI: 1.112-30.704, P=0.037), necrosis in the lymph nodes (OR=6.32, 95%CI: 1.460-27.384, P=0.014), and the axial depth of the lymph nodes≥17 mm (OR=6.61, 95%CI: 1.408-30.969, P=0.017) were the promoting factors for the positive Xpert test. Conclusions: EBUS-TBNA combined with Xpert detection has a high clinical diagnostic value for intrathoracic lymph node tuberculosis. When the number of puncture samples is small, Xpert detection can be preferred. The positive rate of Xpert detection can be improved by selecting lymph nodes with mediastinal lesions, lymph nodes necrosis, and axial lymph nodes depth≥17 mm for puncture.

[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].

OBJECTIVE: To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening. METHODS: This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods. RESULTS: The overall combined carrier frequency was 55.58% for 197 autosomal genes and 1.84% for 26 X-linked genes in these participants.Among the 16 669 families, 874 at-risk couples (5.24%) were identified.Specifically, 584 couples (3.50%) were at risk for autosomal genes, 306(1.84%) for X-linked genes, and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A, 393 couples), HBA1/HBA2(α-thalassemia, 36 couples), PAH (phenylketonuria, 14 couples), and SMN1(spinal muscular atrophy, 14 couples).The most frequently detected X-linked at-risk genes were G6PD (G6PD deficiency, 236 couples), DMD (Duchenne muscular dystrophy, 23 couples), and FMR1(fragile X syndrome, 17 couples).After excluding GJB2 c.109G>A, the detection rate of at-risk couples was 3.91%(651/16 669), which was lowered to 1.72%(287/16 669) after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95% of at-risk couples, while screening for the top 54 genes further increased the detection rate to over 99%. CONCLUSION: This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing, genetic counseling for specific genes or gene variants can be challenging, and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Obesity medications: A narrative review of current and emerging agents.

The aim of this narrative review is to synthesize the available data describing the efficacy and safety of medications approved for obesity management and to provide an overview of upcoming agents in development. A literature search of PubMed, Medline, and Embase databases identified relevant articles describing medications approved in the U.S., Australia, U.K., and/or Europe. Papers were selected based on relevance and originality, with phase 3 clinical trials and meta-analyses preferentially included. Six medications are widely approved for long-term weight management in conjunction with lifestyle interventions in people with body mass index (BMI) ≥30 â€‹kg/m2 or BMI ≥27 â€‹kg/m2 and at least one medical condition related to excess weight. Compared with lifestyle interventions alone, all medications approved for obesity management are more effective for long-term weight loss and improvements in cardiometabolic risk factors. Older obesity medications are associated with mean weight losses in the range of 5-10%. The new generation of agents, including the injectable incretin analogues semaglutide and tirzepatide are associated with sustained mean weight reductions of 15-20%, along with substantial benefits on a range of health outcomes. Several novel agents are under development, with multi-hormone receptor agonists and oral formulations likely to become available in the coming years. As effective treatment options expand, cost and availability will need to be addressed to enable equitable access to treatment. Other important challenges for clinical practice and research include the need for long-term strategies to prevent and manage weight regain and loss of lean muscle and bone mineral density.

Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries.

OBJECTIVES: The identification of structural variants and single-nucleotide variants is essential in finding molecular etiologies of monogenic genetic disorders. Whole-genome sequencing (WGS) is becoming more widespread in genetic disease diagnosis. However, data on its clinical utility remain limited in prenatal practice. We aimed to expand our understanding of implementing WGS in the genetic diagnosis of fetal structural anomalies. METHODS: We employed trio WGS with a minimum coverage of 40× on the MGI DNBSEQ-T7 platform in a cohort of 17 fetuses presenting with aberrations detected by ultrasound, but uninformative findings of standard chromosomal microarray analysis (CMA) and exome sequencing (ES). RESULTS: Causative genetic variants were identified in two families, with an increased diagnostic yield of 11.8% (2/17). Both were exon-level copy-number variants of small size (3.03 kb and 5.16 kb) and beyond the detection thresholds of CMA and ES. Moreover, to the best of our knowledge, we have described the first prenatal instance of the association of FGF8 with holoprosencephaly and facial deformities. CONCLUSIONS: Our analysis demonstrates the clinical value of WGS in the diagnosis of the underlying etiology of fetuses with structural abnormalities, where routine genetic tests have failed to diagnose. Additionally, the novel variants and new fetal manifestations have expanded the mutational and phenotypic spectrums of BBS9 and FGF8. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

[Immunogenicity and safety of revaccination of 23-valent pneumococcal polysaccharide vaccine in people aged 60 years and above].

Objective: To evaluate the immunogenicity and safety of revaccination of 23-valent pneumococcal polysaccharide vaccine (PPV23) in elderly people aged ≥60 years. Methods: The elderly aged ≥60 years with 1 dose of PPV23 vaccination were selected as revaccination group and those without history of pneumococcal vaccine immunization were selected as the first vaccination group. One dose of PPV23 was administered to both groups, and the first blood samples were collected before vaccination while the second blood samples were collected on day 28-40 after vaccination. ELISA was used to detect the concentrations of anti-specific serotype Streptococcus pneumoniae podocyte polysaccharide immunoglobulin G, and the safety of the vaccination was evaluated after 30 days. Results: The geometric mean concentration (GMC) of antibody to 23 serotypes before the vaccination (0.73-13.73 µg/ml) was higher in revaccination group than in the first vaccination group (0.39-7.53 µg/ml), the GMC after the vaccination (1.42-31.65 µg/ml) was higher than that before the vaccination (0.73-13.73 µg/ml) in the revaccination group, and the GMC after the vaccination (1.62-43.76 µg/ml) was higher than that before the vaccination (0.39-7.53 µg/ml) in the first vaccination group; the geometric mean growth multiple in revaccination group (2.16-3.60) was lower than that in the first vaccination group (3.86-16.13); The mean 2-fold antibody growth rate was lower in revaccination group (53.68%, 95%CI: 52.30%-55.06%) than in the first vaccination group (93.16%, 95%CI: 92.18%- 94.15%), all differences were significant (P<0.001). After the vaccination, 13 serotypes of GMC were higher in the first vaccination group than in revaccination group (P<0.001), the differences were not significant for 10 serotypes of GMC (P>0.05). The incidence of local adverse reaction was 19.20% and 13.27% in revaccination group and the first vaccination group, respectively (P=0.174). Conclusions: The antibody level in ≥60 years people who received one dose of PPV23 after a 5-year interval was still higher than that in unvaccinated people. The antibody level decreased after 5 years of the first vaccination, and the antibody level could be rapidly increased by one more dose vaccination, but the overall immune response was lower than that of the first vaccination; revaccination with PPV23 has a good safety.

Plant-Based Diet and Risk of Frailty in Older Chinese Adults.

OBJECTIVES: This study examined the relationship between the consumption of plant-based diet and frailty in older Chinese adults. DESIGN: Prospective cohort study. SETTING: Community-based setting in 22 provinces of China. PARTICIPANTS: The final sample included data from 3990 older adults from 2011-2014 from the Chinese Longitudinal Healthy Longevity Survey. MEASUREMENTS: A plant-based diet index (PDI) was calculated based on a qualitative food frequency questionnaire. Frailty was defined using modified Fried criteria. A Generalized Estimating Equation was used to estimate risk ratios (RRs) and 95% confidence intervals (CIs) for frailty. We further performed subgroup analyses stratified by sex and lifestyle factors. RESULTS: 557 cases of frailty were observed. After adjustment for covariates, the RR for frailty of a high PDI was 0.792 (95% CI: 0.644-0.973), relative to a low PDI. During follow-up, compared with respondents with a continually low PDI, the respondents with a continually high PDI had a significantly reduced risk of frailty (RR = 0.683, 95% CI: 0.514-0.908). In further subgroup analysis, a consistently high PDI over time resulted in a significantly reduced risk of frailty for male (RR = 0.591, 95% CI: 0.391-0.893); for never smokers (RR = 0.670, 95% CI: 0.458-0.979); for people who did never consume alcohol (RR = 0.654, 95% CI: 0.454-0.941); and for people with current or former exercise habits (RR = 0.488, 95% CI: 0.313-0.762). CONCLUSION: Plant-based diet was associated with low risk of frailty in men and in older adults with healthy lifestyle. These findings stress that plant-based diet should be recommended as a dietary strategy to prevent and reduce frailty in older adults; in addition, more dietary interventions along with lifestyle modification should be adopted to promote successful ageing, especially for women.

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging. In this study, we present the DRAGEN KIV-2 CN caller, which utilizes short reads. Data across 166 WGS show that the caller has high accuracy, compared to optical mapping and can further phase ~50% of the samples. We compared KIV-2 CN numbers to 24 previously postulated KIV-2 relevant SNVs, revealing that many are ineffective predictors of KIV-2 copy number. Population studies, including USA-based cohorts, showed distinct KIV-2 CN, distributions for European-, African-, and Hispanic-American populations and further underscored the limitations of SNV predictors. We demonstrate that the CN estimates correlate significantly with the available Lp(a) protein levels and that phasing is highly important.

Ordered stereom structure in sea urchin tubercles: High capability for energy dissipation.

Tubercles in sea urchin shells serve as a base on the test plates connecting the spine; these undergo compressive or impact stress from the spines. As the volume fraction of the ordered stereom structure in a tubercle increases, the compressive load-displacement curves are gradually characterized by the typical behavior of ceramic foams. Although this ordered stereom structure only exhibits an average porosity of 50.6%, it also exhibits high fracture resistance and energy dissipation capacity. Such remarkable behavior of the ordered stereom structure is attributed to its unique hierarchical microstructure. Specifically, at the macroscale, the stereom structure is periodic. It has uniformly distributed pores that are typically round, which can effectively reduce the stress concentration around the pores, and the ordered arrangement of the trabeculae along the axial direction of the tubercle bears the most compressive stress. The trabeculae present a bottleneck shape with a specific dimension, ensuring the best fracture resistance with a relatively higher porosity. Furthermore, crack deflection in the trabeculae changes the local fracture mode of the mineral, thereby increasing the crack surface area. STATEMENT OF SIGNIFICANCE: The connecting bases of the spines in sea urchin shell, known as tubercle, effectively undergo the compressive stress or impact stress from the spines. An ordered stereom structure is found in the tubercle, and it shows an excellent fracture resistance and energy dissipation capacity. Such a fantastic behavior of the ordered stereom structure mainly takes advantage of its unique hierarchical microstructure. The stereom structure presents a periodic structure on macroscale, the trabeculae show a bottleneck shape with a specific dimension to guarantee the best fracture resistance with a relatively higher porosity, and the soft fillers among CaCO3 nanoparticles in a trabecula cause consecutive crack deflections.

[Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations].

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.

[Clinical value of ultrasound-guided radiofrequency ablation in the treatment of retroperitoneal tumors].

Objective: To explore the clinical value of ultrasound-guided radiofrequency ablation in the treatment of retroperitoneal tumors. Methods: The clinical data of 13 patients with retroperitoneal tumors treated with ultrasound-guided radiofrequency ablation in the First Affiliated Hospital of Zhengzhou University from January 2018 to January 2020 were analyzed retrospectively. The ablation effect was evaluated and the postoperative complications were observed. The changes of tumor volume before and after radiofrequency ablation were compared. Results: The symptoms of pain and dyspepsia were significantly improved after radiofrequency ablation, and the hospital stay was (9.2±2.9) days. The tumor was ablated completely in 10 cases, tumor residual in 1 case and tumor metastasis in 2 cases. One patient had postoperative duodenal perforation complicated with intra-abdominal infection, and no serious complications occurred in other patients. There were 20 lesions in 13 patients. The maximum diameter of 20 lesions before operation and 1, 3, 6 months after operation were (39.5±15.9) mm, (30.6±4.9)mm, (15.6±7.7) mm and (9.9±3.1) mm, respectively, the maximum diameters of 1, 3 and 6 months after operation were smaller than that before operation (P<0.05). Conclusion: Ultrasound-guided radiofrequency ablation is a real-time, accurate, safe and effective minimally invasive treatment with few complications, and has a high clinical value for retroperitoneal tumors.

Skin Ultrastructure and the Changes of HIF-2α, H-FABP Expression in the Myocardium of Electric Shock Death Rats.

ABSTRACT: Objective To observe the skin ultrastructure change of electric shock death rats and to test the expression changes of hypoxia-inducible factor-2α （HIF-2α） and heart type-fatty acid-binding protein （H-FABP） of myocardial cells, in order to provide basis for forensic identification of electric shock death. Methods The electric shock model of rats was established. The 72 rats were randomly divided into control group, electric shock death group and postmortem electric shock group. Each group was divided into three subgroups, immediate （0 min）, 30 min and 60 min after death. The skin changes of rats were observed by HE staining, the changes of skin ultrastructure were observed by scanning electron microscopy, and the expression of HIF-2α and H-FABP in rats myocardium was tested by immunohistochemical staining. Results The skin in the electric shock death group and postmortem electric shock group had no significant difference through the naked eye or by HE staining. Under the scanning electron microscope, a large number of cellular debris, cells with unclear boundaries, withered cracks, circular or elliptical holes scattered on the cell surface and irregular edges were observed. A large number of spherical foreign body particles were observed. Compared with the control group, the expression of HIF-2α in all electric shock death subgroups increased, reaching the peak immediately after death. In the postmortem electric shock group, HIF-2α expression only increased immediately after death, but was lower than that of electric shock death group （P<0.05）. Compared with the control group, the expression of H-FABP in all subgroups of electric shock death group and postmortem electric shock group significantly decreased. The expression of H-FABP in all subgroups of electric shock death group was lower than that of the postmortem electric shock group （P<0.05）. Conclusion Electric shock can increase HIF-2α expression and decrease H-FABP expression in the myocardium, which may be of forensic significance for the determination of electric shock death and identification of antemortem and postmortem electric shock.

[Ultrasonographic assessment and differentiation of spontaneous degenerating cystic thyroid nodules and papillary thyroid carcinomas].

Objective: To analyze the features of degenerating cystic thyroid nodules (DCTN) on conventional ultrasound and contrast-enhanced ultrasound (CEUS), and to explore the differentiation between DCTN and papillary thyroid carcinomas (PTC). Methods: A total of 46 DCTN (39 cases, including 12 males and 27 females, with an age range of 25 to 76 years) and 36 PTC (32 cases, including 8 males and 24 females, with an age range of 23 to 68 years) diagnosed via fine- needle aspiration (FNA) or surgery from February 2019 to January 2020 in the First Affiliated Hospital of Nanchang University were enrolled. The size, shape, margin, echogenicity, presence of shadowing, calcification and vascularity of DCTN and PTC were retrospectively evaluated, and 28 DCTN and 30 PTC underwent CEUS were separately analyzed and compared.The t test, χ² test or Fisher's exact test were implemented to compare the features of ultrasound among the two groups. The binary Logistic regression test was performed to determine whether the feature whose difference was statistically significant was an independent predictive risk factor. Results: A univariate analysis indicated that DCTN more frequently showed wider-than-tall shapes, marked hypoechogenicity, well-defined margin and no or dot-lined enhancement (wider-than-tall shapes: 36 vs. 17, χ2=8.511; well-defined margin: 30 vs. 15, χ2=4.523; marked hypoechogenicity: 27 vs. 9, χ2=9.310; no or dot-lined enhancement: 24 vs. 3, χ2=33.369; all P＜0.05). A multivariate analysis demonstrated that wider-than-tall shapes, well-defined margin and marked hypoechogenicity were independent predictors for DCTN (OR values were 5.204, 3.134 and 5.042, P values were 0.003, 0.031, and 0.003, respectively). Among 28 DCTN, 15 showed a decrease in mean maximum diameter (24.3±11.4 mm) with a mean time span of (18.6±10.5) months between the presence and absence of suspicious ultrasound features. Conclusions: Compared with PTC, DCTN shows the ultrasound characteristics of wider-than-tall shapes, well-defined margin, marked hypoechogenicity and no or dot-lined enhancement pattern. Ultrasound follow-up can help to identify spontaneous DCTN.

Associations of changes in fat free mass with risk for type 2 diabetes: Hispanic Community Health Study/Study of Latinos.

AIMS: To determine whether loss of muscle mass (approximated using fat free mass [FFM]) is associated with risk for type 2 diabetes mellitus (T2DM) in Hispanic/Latino adults in the United States. METHODS: Participants were Hispanic/Latino adults (18-74-year-olds) who completed Visit 2 of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL; multi-site, prospective cohort study; 6.1-year follow-up) and did not have T2DM at baseline (n = 6264). At baseline and Visit 2, FFM was measured using bioelectrical impedance analysis and fasting glucose, HbA1c, and fasting insulin were measured by examiners. Diabetes was defined according to American Diabetes Association criteria. Survey-weighted Poisson regression models examined the association of percent change in relative FFM (%ΔFFM) with incident prediabetes and T2DM. Survey-weighted multivariable regression models examined associations of %ΔFFM with changes in glucose and insulin measures. RESULTS: Relative FFM declined by 2.1% between visits. %ΔFFM was inversely associated with incident prediabetes (p-for-trend = 0.001) and with changes in glucose and insulin measures (p-for-trend <0.0001). Findings were null, except for HOMA-IR, after adjustment for changes in adiposity measures. Associations were generally stronger for individuals with baseline overweight/obesity. CONCLUSIONS: Reducing loss of FFM during adulthood may reduce prediabetes risk (primarily insulin resistance), particularly among individuals with overweight/obesity.

CCAT2 contributes to progression and treatment resistance of thyroid carcinoma.

OBJECTIVE: The aim of this study is to uncover the correlations of the expression of colon cancer associated transcript 2 (CCAT2) in the clinical papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC) specimens with the prognosis and chemoresistance of patients. PATIENTS AND METHODS: The expression level of CCAT2 in the PTC and ATC specimens was determined using Real-Time quantitative Polymerase Chain Reaction (RT-qPCR), and the correlations of CCAT2 expression with the clinical features of patients were detected via χ2 test. Besides, survival analysis was conducted to verify the relation between CCAT2 expression and patients' survival. After knockdown or overexpression of CCAT2, the changes in the proliferation ability of human thyroid carcinoma cells were examined via Cell Counting kit-8 (CCK-8) assay, and the half maximal inhibitory concentration (IC50) values of doxorubicin and cisplatin were measured by methyl thiazolyl tetrazolium (MTT) assay. RESULTS: According to the χ2-test results, the expression of CCAT2 was notably correlated with the capsular invasion and lymph node metastasis of PTC, and the capsular invasion, tumor size, and lymph node metastasis of ATC. It was discovered through the survival analysis that the expression of CCAT2 was notably associated with the poor prognosis of ATC patients. After knockdown of CCAT2, both the proliferation ability and the IC50 values of doxorubicin and cisplatin substantially declined in human thyroid carcinoma cells. The opposite conditions were found after CCAT2 was overexpressed in human thyroid carcinoma cells. CONCLUSIONS: CCAT2 potentiates the proliferation ability and chemoresistance of cells, promotes the progression of thyroid carcinoma, and hinders the prognosis of ATC.

Serum level of CCL2 predicts outcome of patients with pancreatic cancer.

BACKGROUND: Pancreatic cancer is one of the most deadly cancers worldwide with a five-year survival rate of less than 5%. Chronic pancreatitis showed increased risk to develop pancreatic cancer, in which chronic inflammation of the pancreas may play a critical role. Cytokines play an indispensable role in inflammatory reaction and tumorigenesis. The purpose of this study was to determine whether cytokines were associated with survival and poor prognosis of pancreatic cancer. METHODS: In this study, we examined levels of some important cytokines in the serum of 68 patients with pancreatic cancer, including CCL2, CCL17, CXCL-1, CXCL-5, G-CSF, GM-CSF, TGF-ß and IFN-γ. RESULTS: We found that high level of serum CCL2 was strongly associated with poor survival and prognosis, but no significant association with other clinicopathological features, including gender, age, location and TNM staging. For other cytokines, no significant correlation with poor survival and prognosis was found. CONCLUSION: Our results suggest that serum level of CCL2 may serve as a potential marker for predicting the outcome of patients with pancreatic cancer.

Protective effect of magnesium sulfate on cranial nerves in preeclampsia rats through NF-κB/ICAM-1 pathway.

OBJECTIVE: The aim of this study was to investigate the protective effect of magnesium sulfate (MgSO4) on the cranial nerves of preeclampsia (PE) rats through the nuclear factor-κB (NF-κB)/intercellular adhesion molecule-1 (ICAM-1) pathway. MATERIALS AND METHODS: A total of 30 pregnant rats were randomly divided into three groups, including control group, model group, and treatment group, with 10 rats in each group. Systolic blood pressure was measured at 13 d, 15 d, and 19 d. The apoptosis level in brain tissues was detected via Western blotting and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay. Protein expression of genes was detected using immunohistochemical staining. Moreover, the messenger ribonucleic acid (mRNA) expressions of NF-κB and ICAM-1 in brain tissues were determined through Reverse Transcription-Polymerase Chain Reaction (RT-PCR). RESULTS: Systolic blood pressure exhibited significant differences among the three groups at 15 d and 19 d of gestational age (p<0.05). At 15 d of gestational age, systolic blood pressure was significantly higher in model group than that of control group (p<0.05). However, it was slightly lower in treatment group than model group (p<0.05). At 19 d of gestational age, systolic blood pressure was significantly higher in model group than control group (p<0.05). However, it decreased remarkably in treatment group when compared with model group (p<0.05). In treatment group, systolic blood pressure at 19 d was significantly lower than that at 15 d (p<0.05). Subsequent Western blotting revealed that the protein expression of B-cell lymphoma-2 (Bcl-2) in brain tissues decreased evidently, whereas the expression of Bcl-2 associated X protein (Bax) increased significantly in model group compared with control group, showing statistically significant differences (p<0.01). The protein expression of Bcl-2 in brain tissues increased significantly, while the expression of Bax declined remarkably in treatment group compared with model group (p<0.01). The number of apoptotic cells in model group and treatment group increased significantly compared with that in control group, with the largest in model group (p<0.05). However, it remarkably declined in treatment group compared with model group (p<0.05). These results suggested that MgSO4 treatment could significantly reduce neuronal apoptosis in PE rats. According to the results of immunohistochemistry, the protein expressions of NF-κB and ICAM-1 in brain tissues were significantly higher in model group and treatment group than those in control group (p<0.05). However, they were significantly lower in treatment group than model group (p<0.05). RT-PCR results manifested that the mRNA expressions of NF-κB and ICAM-1 in brain tissues exhibited evident differences among the three groups (p<0.05). Model group and treatment group showed significantly up-regulated mRNA expressions of NF-κB and ICAM-1 in brain tissues compared with control group (p<0.05). The highest mRNA expression was observed in model group. However, treatment group exhibited remarkably decreased mRNA expressions of NF-κB and ICAM-1 in brain tissues compared with model group (p<0.05). CONCLUSIONS: MgSO4 exerts a protective effect on cranial nerves of PE rats by inhibiting the NF-κB/ICAM-1 signaling pathway.

[Impact of maternal X chromosome aneuploidies on cell free DNA prenatal screening].

Objective: To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening. Methods: After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations. Results: Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases. Conclusions: Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.

[Risk factors for multiple debridements of the patients with deep incisional surgical site infection after spinal surgery].

OBJECTIVE: To investigate the risk factors that contribute to multiple debridements in patients suffering from deep incisional surgical site infection after spinal surgery and advise medical personnel to pay special attention to these risk factors. METHODS: We retrospectively enrolled 84 patients who got deep incisional surgical site infection after spinal surgery from Jan. 2012 to Dec. 2017. The infections occurred within 30 days after the surgery, and the identification met the criteria of deep incisional surgical site infection of Centers of Disease Control (CDC). Early debridement with first stage closure of the wound and a continuous inflow-outflow irrigation system was used, and reasonable antibiotics were chosen according to the bacterial culture results. During the treatment, the vital signs, clinical manifestations, blood test results, drainage fluid colour and bacterial culture results were acquired. If the infection failed to be controlled or relapsed, a second debridement was performed. Of the 84 cases, 60 undergwent single debridement which included 36 male cases and 24 female cases, and the age ranged from 36 to 77 years, with a mean of 57.2 years. Twenty four had multiple debridements (twice in 14 cases, three times in 6 cases, four times in 1 case, five times in 2 cases, six times in 1 cases) which included 17 male cases and 7 female cases, and the age ranged from 21 to 70 years, with a mean of 49.5 years. Risk factors that predispose patients to multiple debridements were identified using univariate analysis. Risk factors with P values less than 0.05 in univariate analysis were included together in a multivariate Logistic regression model using back-forward method. RESULTS: Multiple debridements were performed in 28.6% of all cases. The hospital stay of multiple debridements group was (82.4±46.3) days compared with (40.4±31.5) days in single debridement group (P=0.018). Instrumentation was removed in 6 cases in multiple debridements group and 4 cases in single debridement group (P=0.049). Flap transplantation was performed in 7 cased in multiple debridements group while none in single debridement group (P < 0.001). Diabetes, primary operation duration longer than 3 hours, primary operation blood loss more than 400 mL, bacteriology examination results, distant site infection were significantly different between the two groups in univariate analysis. In multivariate analysis, primary operation duration longer than 3 hours (OR=3.60, 95%CI: 1.12-11.62), diabetes (OR=3.74, 95%CI: 1.06-13.22), methicillin-resistant Staphylococcus aureus (MRSA) infected (OR=16.87, 95%CI: 2.59-109.73) were the most important risk factors related to multiple debridements in the patients with deep incisional surgical site infection after spinal surgery. CONCLUSION: Diabetes, primary operation duration more than 3 hours, MRSA infected are independent risk factors for multiple debridements in patients suffering from deep incisional surgical site infection after spinal surgery. Special caution and prophylaxis interventions are suggested for these factors.

[Research progress of odontoid fracture in children].

The majority of cervical spine injuries in children occur in the upper cervical spine, of which odontoid fracture is the most common. Odontoid fracture in children is a very insidious injury. Due to the unclear language and incompatible physical examination, the disease is often missed diagnosis. Because the child axis is still in the developmental segment, including 4 synchondrosis and 6 ossification centers, there are obvious anatomical and biological differences between the child odontoid fracture and the adult. Therefore, the choice of treatment is different from that of adults. This article will introduce the development of odontoid in children, and summarize the injury characteristics, clinical classification and treatment of odontoid fracture in children.