OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing

Gliomas, with their infiltrative growth and malignant potential, present considerable therapeutic challenges. Maximal safe resection is essential for optimizing patient survival and quality of life. Despite this, existing intraoperative visualization techniques suffer from limited sensitivity and accuracy. Label-free Raman spectroscopy has emerged as a non-invasive, rapidly diagnostic, and highly accurate technique. It accurately diagnoses tumors, identifies infiltration margins, and classifies molecular subtypes, enhancing the precision of glioma surgery. This review summarizes the latest advances and applications of label-free Raman spectroscopy in glioma surgery.

ObjectiveTo analyze the prevalence and influencing factors of overweight and obesity among primary school students in a community of Fengxian District, Shanghai, and to provide references for formulating prevention and control strategies against overweight and obesity. MethodsData on height and weight of all primary school students in a community in Fengxian District, Shanghai, in 2023 were obtained by physical examination, and 1 759 primary school students were included according to the entry criteria. Overweight and obesity were determined using body mass index (BMI). Additionally, a questionnaire survey was performed to 1 045 students to collect their demographic characteristics, dietary behaviors, dietary habits, sleep and physical activity information. Chi-square test and logistic regression analysis were used to analyze the influencing factors of overweight and obesity. ResultsIn 2023, among the 1 759 primary school students in the community in Fengxian District, 923 (52.47%) were male and 836 (47.53%) were female, with an overweight/obesity detection rate of 28.08%. The detection rate of overweight and obesity was 33.37% in males and 22.25% in females, which was significantly higher in males than that in females (χ²=26.845, P<0.001). Students aged 10‒12 years had a higher overweight/obesity detection rate (32.55%) than those aged 6‒<10 years (26.53%), and the difference was statistically significant (χ²=10.925, P<0.001). Logistic regression analysis revealed that being female, with young age, parental education level of bachelor’s degree and above, a high global dietary recommendation healthy (GDR-healthy) score, preference for vegetables and sweeter home-cooked meals, and a slow eating speed were negatively correlated with overweight/obesity. Whereas, parental overweight and obesity, binge eating, and a faster eating pace than same-age, same-gender peers may be positively correlated with overweight/obesity. ConclusionThe detection rate of overweight and obesity among primary school students in the community in Fengxian District of Shanghai is higher than the national level. Gender, age, parental BMI, parental education level, dietary behaviors and habits are the main influencing factors of overweight/obesity among primary school students.

Gliomas, with their infiltrative growth and malignant potential, present considerable therapeutic challenges. Maximal safe resection is essential for optimizing patient survival and quality of life. Despite this, existing intraoperative visualization techniques suffer from limited sensitivity and accuracy. Label-free Raman spectroscopy has emerged as a non-invasive, rapidly diagnostic, and highly accurate technique. It accurately diagnoses tumors, identifies infiltration margins, and classifies molecular subtypes, enhancing the precision of glioma surgery. This review summarizes the latest advances and applications of label-free Raman spectroscopy in glioma surgery.

Brain glioma invariably relapses since the tumor is difficult to remove completely. Accurate identification of tumor subtypes and tracing of tumor boundaries intraoperatively are the key clinical issues. Raman spectroscopy has a good application prospect in the intraoperative diagnosis of brain glioma due to its advantages of nondestructive, label-free, histology imaging and high specificity. In this article, the research and application of Raman spectroscopy in the in vitro diagnosis and intraoperative navigation-related diagnosis and treatment of brain glioma are reviewed.

Objective To observe the clinical efficacy of Jiangshabanxia nano-paste on nausea and vomiting in end-stage patients and its effect on the quality-of-life (QOL) in cancer patients. Methods 120 end-stage patients with nausea and vomiting symptoms above grade III were randomly divided into observation group and control group. They were treated with Jiangshabanxia nano-paste and placebo paste respectively. The paste patch was changed every 24 hours and used continuously for 7 days. The nausea and vomiting symptom score, the quality-of-life measurement score and KPS score of cancer patients in the two groups were observed to evaluate the curative effect. Results After 7 days of treatment, the symptom scores of nausea and vomiting in the observation group decreased significantly, the KPS score of the observation group increased, and the effective rate was higher than that in the control group. The score of QOL measurement showed that after treatment, the score of main symptom areas and other symptom areas (except external dyspnea, diarrhea and economic difficulties) in the observation group decreased, and the score of overall health area increased. After treatment, the score of main symptom areas and other symptom areas (except external dyspnea, diarrhea and economic difficulties) in the observation group was lower than that in the control group, and the scores of overall health area in the observation group were higher than those in the control group. Conclusion Jiangshabanxia nano-paste has a good clinical efficacy nausea and vomiting in end-stage patients, it also can improve the quality of life end-stage cancer patients.

AIM: To explore the efficacy of intravitreal injection of ranibizumab and conbercept in the treatment of exudative age-related macular degeneration(ARMD), and analyze the effects on best corrected visual acuity(BCVA), central retinal thickness(CRT)and complications of patients. METHODS: The clinical data of 60 patients(60 eyes)with exudative ARMD in the hospital between January 2017 and January 2020 were collected for retrospective analysis. According to different treatment drugs, they were divided into intravitreal injection of ranibizumab group(30 eyes)and intravitreal injection of conbercept group(30 eyes). The BCVA, CRT, choroidal neovascularization changes and occurrence of complications were compared between the two groups before treatment and 1, 2 and 3mo after treatment. RESULTS: After 1, 2 and 3mo treatment, the BCVA(LogMAR)of patients in the two groups was better than that before treatment(P<0.05). The CRT was lower than that before treatment(P<0.05), and the CRT at 1, 2 and 3mo after treatment in intravitreal injection of conbercept group was lower than that in intravitreal injection of ranibizumab group(P<0.05). There were no significant differences in the recovery of choroidal neovascularization and the occurrence of complications between the two groups(P>0.05). CONCLUSION: Both intravitreal injection of ranibizumab and conbercept can achieve a good efficacy in the treatment of exudative ARMD, and there was no significant difference in the improvement of visual acuity between them. However, conbercept has obvious advantages in reducing CRT in the treatment of exudative ARMD.

Objective:To investigate the association between the initial red cell distribution width (RDW) and all-cause mortality in patients with cardiac arrest (CA) in intensive care unit (ICU).Methods:We conducted a retrospective cohort study and extracted the related clinical data in ICU among adult CA patients (age ≥18 years), using the Multiparameter Intelligent Monitoring Intensive Care III (MIMIC-Ⅲ, v1.4) database from 2001 to 2012. Based on whether they survived or not on 90 days, the patients were divided into the survival group and death group, and the clinical data of the two groups were compared. Meanwhile, the RDW values were divided into four parts according to quartile. The cumulative survival rate of 28-day and 90-day were estimated using the Kaplan-Meier method and compared using the log-rank test. Multivariate Cox proportional hazard models were also used to reveal the association between RDW and all-cause mortality.Results:Based on the inclusion and exclusion criteria, 853 adult CA patients were finally enrolled. The mean age was (67.26±15.84) years, and 534 (62.60%) patients were male. And the mean SOFA score was (6.13±3.70). Compared with the survival group ( n=410), the patients in the death group ( n=443) were older and had a higher SOFA score, RDW, anion gap, creatinine and blood phosphorus. Moreover, the proportion of chronic obstructive pulmonary disease, acute kidney injury and sepsis in the death group were higher than those in the survival group, and the length of stay in ICU in the death group was longer than that in the survival group (all P<0.05). However, the indicators of arterial blood oxygen partial pressure, hemoglobin and total blood calcium, as well as the proportion of coronary heart disease and acute myocardial infarction were lower than those in the survival group, and a shorter duration of hospitalization in the death group was noted (all P<0.05). Kaplan-Meier survival curves demonstrated that there was a significant difference in the cumulative survival rate of 28-day and 90-day (all P<0.001). In the multivariate Cox proportional hazard models, a higher RDW at ICU admission was an independent risk factor for 28-day ( HR=1.399, 95% CI: 1.014-1.930, P=0.041) and 90-day ( HR=1.433, 95% CI: 1.064-1.929, P=0.018) all-cause mortality among CA patients. Conclusions:An elevated RDW is an independent predictor for 28-day and 90-day all-cause mortality of CA patients. As a clinical indicators, it indicates a poor prognosis for adult CA patients.

Objective:To analyze the impact of gender on prognosis in patients with primary hepatocellular carcinoma (HCC) after hepatectomy.Methods:The data of 1 796 patients with HCC who underwent liver resection at the Guangxi Medical University Cancer Hospital from January 2010 to December 2016 were retrospectively analyzed. There were 1 548 males and 248 females, the average age were 49.6 years. Patients were followed up for recurrence and survival. After propensity score matching, the postoperative survival rates of male and female patients were compared. Univariate and multivariate Cox regression was used to analyze independent factors affecting prognosis of patients with HCC after hepatectomy. The age and menopause were analyzed by subgroup analyses.Results:The 1-, 3- and 5-years cumulative overall and recurrence-free survival rates of male patients were significantly lower than that of female patients (all P<0.05). Multivariate analysis showed that female was an independent protective factor affecting postoperative recurrence ( HR=0.777, 95% CI: 0.615-0.982) and overall survival ( HR=0.669, 95% CI: 0.520-0.856). Using a cut-off value of 50 years old, the patients were divided into <50 years old ( n=915) and ≥50 years old ( n=881). In patients who were less than 50 years old, the 1-, 3- and 5-years cumulative overall and recurrence-free survival rates of male patients were significantly lower than those of female patients (all P<0.05). In patients ≥50 years old, there were no significant difference in the cumulative overall and recurrence-free survival rates between male and female patients (all P>0.05). Female patients were then divided into the postmenopausal group ( n=152) and the premenopausal group ( n=96). There were no significant differences in the cumulative overall and cumulative recurrence-free survival rates between the two groups ( P>0.05). Conclusion:The prognosis of female patients with HCC after hepatectomy was significantly better than that of male patients.

AIM: To observe the clinical effect of Toric intraocular lens(Toric IOL)implantation in the correction of corneal astigmatism, and vector analysis of residual astigmatism and corneal astigmatism.

METHODS: A retrospective case observation study. A total of 63 patients with 77 eyes who underwent phacoemulsification combined with Toric IOL implantation in our hospital from September 2018 to October 2019 were selected. LogMAR uncorrected distance visual acuity(UCDVA), best corrected distance visual acuity(BCDVA), residual astigmatism of subjective refraction were observed after operation in 1wk, 1mo, and 3mo. And after dilated pupil, the Toric IOL axis position was measured by OPD-scanⅢ, and compared with the target axis position(LAD).

RESULTS: The median(interquartile range)of UCDVA at 1wk, 1mo, and 3mo after operation were 0.22(0.15, 0.40), 0.30(0.15,0.40),and 0.30(0.15, 0.40), which were better than those of UCDVA \〖0.82(0.60, 1.22)\〗 and BCDVA \〖0.52(0.30, 0.70)\〗 before operation(P<0.008). The residual astigmatism was 0.75(0.50, 1.00), 0.75(0.38, 1.00), 0.50(0.25, 1.00)D, respectively, which was significantly lower than that of preoperative corneal astigmatism \〖2.19(1.73, 2.69)D\〗(P<0.008). At 3mo after surgery, the proportion of UCDVA(LogMAR)≤0.301 was 69%; the proportion of residual astigmatism ≤0.75D was 73%. The median LAD at 1wk, 1mo, and 3mo after surgery were 2.0°, 2.0°, and 3.0°; 81%, 82%, 77% were less than 5°. The maximum LAD value is 11°. Astigmatism vector analysis: preoperative corneal astigmatism was 2.31±0.80D, centroid value was 1.44D@177°±1.99D; Predicted postoperative residual astigmatism was 0.14±0.17D, centroid value was 0.02D@58°±0.22D; residual astigmatism at 3mo after operation was 0.69±0.53D, centroid value was 0.05D@142°±0.88D.

CONCLUSION: Toric IOL can effectively correct corneal astigmatism in patients with cataract and has good rotational stability. Astigmatism vector analysis can directly show the difference between predicting postoperative astigmatism and actual residual astigmatism, which is helpful to analyze and optimize the measurement of corneal astigmatism, calculation of IOL degree, surgical design, postoperative observation.