Objective:To retrospectively analyze the anesthetic management characteristics of children undergoing resection of pheochromocytoma and paraganglioma (PPGL).Methods:The clinical data from patients undergoing resection of PPGL and confirmed histologically from January 1, 2010 to June 30, 2023 were retrospectively collected. The baseline characteristics, intraoperative conditions and postoperative complications were recorded.Results:The clinical data from 47 pediatric patients were analyzed. The overall incidence of hemodynamic instability events was 68% (32 cases). Lowering preoperative blood pressure to normal levels and the maximum diameter of tumor≥6 cm was helpful in reducing the incidence of the intraoperative hemodynamic instability events ( P<0.05). Postoperative hypotension developed in 7 cases, acute left heart failure in 1 case, arrhythmia in 1 case, adrenocortical insufficiency in 4 cases, and pulmonary infection in 13 cases. Conclusions:Thorough preoperative preparation, evidence-based anesthetic management, and meticulous postoperative vital sign monitoring can increase the perioperative safety for children undergoing resection of PPGL, thereby reducing the incidence of complications.

Objective:To examine whether immunohistochemistry of methylthioadenosine phosphorylase (MTAP) and p16 could be used to predict the CDKN2A status in various brain tumors.Methods:A total of 118 cases of IDH-mutant astrocytomas, 16 IDH-wildtype glioblastoma, 17 polymorphic xanthoastrocytoma (PXA) and 20 meningiomas diagnosed at Xuanwu Hospital, Capital Medical University, Beijing, China from November 2017 to October 2023 were collected and analyzed. The CDKN2A status was detected by using fluorescence in situ hybridization or next-generation sequencing. Expression of MTAP and p16 proteins was detected with immunohistochemistry. The association of loss of MTAP/p16 expression with CDKN2A homozygous/heterozygous deletion was examined.Results:Among the 118 cases of IDH-mutant astrocytoma, 13 cases showed homozygous deletion of CDKN2A. All of them had no expression of MTAP while 9 cases had no expression of p16. Among the 16 cases of IDH wild-type glioblastoma, 6 cases showed homozygous deletion of CDKN2A. All 6 cases had no expression of MTAP, while 3 of these cases had no expression of p16 expression. Among the 17 PXA cases, 4 cases showed homozygous deletion of CDKN2A, and the expression of MTAP and p16 was also absent in these 4 cases. Among the 20 cases of meningiomas, 4 cases showed homozygous deletion of CDKN2A. Their expression of MTAP and p16 was also absent. Among the four types of brain tumors, MTAP was significantly correlated with CDKN2A homozygous deletion ( P<0.05), with a sensitivity of 100%. However, it was only significantly correlated with the loss of heterozygosity (LOH) of CDKN2A in astrocytomas ( P<0.001). P16 was associated with CDKN2A homozygous deletion in IDH-mutant astrocytoma and PXA ( P<0.001), but not with the LOH of CDKN2A. Its sensitivity and specificity were lower than that of MTAP. Conclusions:MTAP could serve as a predictive surrogate for CDKN2A homozygous deletion in adult IDH-mutant astrocytoma, PXA, adult IDH-wildtype glioblastoma and meningioma. However, p16 could only be used in the first two tumor types, and its specificity and sensitivity are lower than that of MTAP.

Objective To explore the death characteristics and the potential years of life lost from chronic obstructive pulmonary disease (COPD) among residents in Pudong New Area of Shanghai from 2002 to 2019, so as to provide a reference for formulating corresponding prevention and control strategies for chronic obstructive pulmonary disease. Methods The death data of chronic obstructive pulmonary disease was extracted from the Pudong New Area's death surveillance system. Crude mortality, age-standardized mortality, potential years of life lost (PYLL), average years of life lost (AYLL) and annual percent change (APC) of chronic obstructive pulmonary disease deaths were calculated to analyze the situation of COPD death in Pudong New Area. Results The crude mortality and age-standardized mortality of chronic obstructive pulmonary disease among residents in Pudong New Area between 2002 and 2019 were 64.94/100,000 and 21.04/100 000, respectively. The chronic obstructive pulmonary disease showed a downward trend (APC=-2.05%, Z=- 5.342, P<0.001), and the standardized mortality rate decreased year by year (APC=-6.23%, Z=-13.052, P<0.001). The crude mortality and age-standardized rates in male residents were both higher than those in females (Z-crude mortality=46.471, P<0.001, Z-standardized mortality=-48.961, P<0.001). The PYLL of chronic obstructive pulmonary disease was 16,997 years, the PYLL rate was 0.34‰, and the AYLL was 0.53 years per person. Conclusion From 2002 to 2019, the mortality of chronic obstructive pulmonary disease among residents in Pudong New Area was relatively high and caused serious life loss. Both crude mortality and age-standardized rate showed a downward trend during the study period. Comprehensive prevention and control measures should be further developed.

Objective:To investigate the epidermal growth factor receptor (EGFR) mutation rate, mutation characteristics and distribution characteristics of different mutation types in patients with non-small cell lung cancer (NSCLC) in Fuyang of Yunnan province, to provide the clinical individualized targeted therapy of NSCLC in this region.Methods:A total of 328 NSCLC patients whose native place were Fuyuan and who underwent EGFR test in Fuyuan County People's Hospital in Yunnan Province from January 2018 to August 2020 were selected, and their clinical data such as gender, age, ethnicity, pathological type and the results of EGFR test were collected for statistical analysis.Results:The EGFR mutation rate of NSCLC patients was 40.55% (133/328). The EGFR mutation rate of female patients was higher than that of males ( P < 0.01). The EGFR mutation rate showed a downward trend with age, the EGFR mutation rate of patients ≤ 60 years old was higher than that of patients > 60 years old ( P = 0.014). The EGFR mutation rate in ethnic minority was not statistically different from Han nationality ( P = 0.789). The EGFR mutation rate of patients without smoking history was higher than that of patients with smoking history ( P<0.01). Patients with adenocarcinoma had a higher EGFR mutation rate than squamous cell carcinoma ( P = 0.002). The EGFR mutation rate in patients with stage Ⅰ-Ⅱwere higher than that in patents with stage Ⅲ-Ⅳ ( P = 0.013). The EGFR mutation rate in tissue samples were higher than that in peripheral blood samples ( P = 0.009). In 328 patients the EGFR single-point mutation rate was 24.70% (81/328), and the compound mutation rate was 15.85% (52/328); the common mutation rate was 17.07% (56/328), and the rare mutation rate was 23.48% (77/328). The top 5 mutation types were L858R (10.06%), G719X+S768I (7.32%), 19-Del (7.01%), G719X+L861Q (6.40%), and G719X (4.21%). In 133 patients with EGFR mutation, the proportion of patients with rare mutation [57.89% (77/133)] was higher than the proportion of patients with common mutation [42.11% (56/133)]. Conclusion:The EGFR mutation rates of female, adenocarcinoma, non-smoking and young NSCLC patients in Fuyuan area are high, and the rare mutation rate is high.

Objective To explore the epidemiological characteristics and the potential years of life lost of gynecological malignant tumors among female residents in Pudong New Area of Shanghai between 2002 and 2019. Methods Crude mortality rate (CMR), age-standardized mortality rate (SMR), potential years of life lost (PYLL), average years of life lost (AYLL) and annual percent change (APC) of the cervical cancer，uterine cancer and ovarian cancer deaths were calculated to analyze the mortality situation of gynecological malignant tumors among female residents in Pudong New Area. Results The crude mortality rate were 2.65/100 000, 2.44/100 000 , 4.55/100 000, and age-standardized mortality rate were 1.33/100 000, 1.06/100 000, 2.26/100 000, respectively, among female residents in Pudong New Area during 2002 to 2019. In the study period, both the crude mortality rate and the age-standardized mortality rate of cervical cancer rose over the years; Both the crude mortality rate and the age-standardized mortality rate of uterine cancer kept stable; The crude mortality rate of ovarian cancer showed an upward trend, and the age-standardized mortality rate kept stable. The PYLL of cervical cancer was 7335 years, the PYLL rate was 0.30‰, and the AYLL was 11.20 years per person; The PYLL of uterine cancer was 3556 years, the PYLL rate was 0.14‰, and the AYLL was 5.90 years per person; The PYLL of uterine cancer was 10017 years, the PYLL rate was 0.41‰, and the AYLL was 8.91 years per person. Conclusion The mortality rate of cervical cancer and ovarian cancer rose over years, and the mortality of uterine cancer kept stable among female residents in Pudong New Area during 2002 to 2019. The gynecological malignant tumors caused severe disease burden.

Objective:To explore the surgical outcomes of focal cortical dysplasia (FCD) patients with "difficult to locate" intractable epilepsy and their influencing factors.Methods:Thirty-five FCD patients with "difficult to locate" intractable epilepsy, underwent surgical treatment after intracranial electroencephalogram (iEEG) evaluation in our hospital from January 2011 to December 2018, were chosen in our study. Engel grading was used to evaluate the surgical efficacies of these patients, and they were divided into a satisfied efficacy group (Engel grading I) and an incomplete satisfied efficacy group (Engel grading II-IV). The clinical data of patients from the 2 groups were compared. Multivariate Logistic regression analysis was performed to explore the influencing factors for surgical outcomes of FCD patients with "difficult to locate" intractable epilepsy.Results:Of these 35 patients, 26 patients (74.3%) achieved satisfied efficacy, and 4 had incomplete satisfied efficacy. As compared with those in the satisfied efficacy group, patients in the incomplete satisfied efficacy group had significantly lower total resection rate of epileptogenic foci ( P<0.05). Multivariate Logistic regression analysis showed that incomplete resection of epileptogenic foci was the influencing factor for surgical outcomes of FCD patients with "difficult to locate" intractable epilepsy ( P=0.014, OR=0.050, 95%CI: 0.005-0.547). Conclusion:The FCD patients with "difficult to locate" intractable epilepsy can achieve satisfactory results by surgical resection of epileptogenic zones after iEEG monitoring; these FCD patients with "difficult to locate" intractable epilepsy with incomplete resection of epileptogenic foci often have poor surgical outcomes.

Objective:To analyze the clinicopathological and molecular features and prognostic implications of adult isocitrate dehydrogenase wild type (IDH-wt) diffuse gliomas.Methods:A total of 87 cases of adult IDH-wt diffuse gliomas from 2016 to 2020 in Xuanwu Hospital of Capital Medical University were retrospectively collected. The clinicopathological characteristics and prognosis were analyzed. Molecular characteristics were also analyzed using Sanger sequencing and next generation sequencing.Results:There were 53 males and 34 females, aged from 19 to 78 years (mean 53 years). Histopathologically, there were 63 (72.4%) glioblastomas, 16 (18.4%) anaplastic astrocytomas, six (6.9%) diffuse astrocytomas, and one (1.1%) each of anaplastic oligodendrocytoma, and anaplastic oligodendroglioma. Common molecular genetic changes in IDH-wt gliomas included TERT promoter mutation which was found in 60 cases (69.0%); MGMT promoter methylation in 43 cases (49.4%); EGFR mutation in 38 cases (43.7%); PTEN mutation in 35 cases (40.2%) and TP53 mutation in 32 cases (36.8%). In addition, PDGFRA mutation was detected in 17 cases (19.5%), CDK4 amplification in 15 cases (17.2%) and MDM2 amplification in 11 cases (12.6%). In IDH-wt diffuse gliomas, there was no significant difference in the overall survival between TERT promoter, EGFR, PTEN, TP53, PDGFRA, CDK4, MDM2 mutations and the wild-type, since these gene mutations could co-occur in any case ( P>0.05). Also there was no significant difference in the overall survival between the WHO grade Ⅱ/Ⅲ gliomas and glioblastoma patients with these gene mutations ( P>0.05). Conclusions:TERT promoter, EGFR, PTEN, TP53, PDGFRA, CDK4 and MDM2 gene mutations are common molecular genetic changes in adult IDH-wt gliomas, and are associated with poor prognosis. It is suggested that these genes are potentially useful for predicting the prognosis and should be tested in adult IDH-wt gliomas.

Objective:To investigate the clinicopathological features, diagnosis and prognosis of diffuse leptomeningeal glioneuronal tumor (DLGNT).Methods:Five cases of DLGNT diagnosed from January 2016 to January 2020 were collected from Xuanwu Hospital, Capital Medical University. The clinical features, histopathologic characteristics, immunohistochemical and molecular genetic findings and prognosis were analyzed and the relevant literature was reviewed.Results:The five patients (two males and three females) were aged 2 to 52 years (median 11 years), and had history of increased intracranial pressure (headache and vomiting) or limb weakness. Three of them were younger than 16 years of age. The imaging studies showed diffuse intracranial and intraspinal nodular leptomeningeal thickening and enhancement, with or without parenchymal involvement. At times there were associated small cyst-like lesions. Imaging interpretations were inflammatory lesions in three cases and space occupying lesions in two. Microscopically, in three cases the tumors showed low to moderate cellularity, consisting of relatively monomorphous oligodendrocyte-like cells arranged in small nests or diffusely distribution. No mitosis and necrosis were observed. In two cases there were increased cellularity with a diffuse honeycomb pattern. The tumor showed mild to moderate polymorphism with hyperchromatic nuclei. Mitosis, endothelial vascular proliferation and glomeruloid vessels were seen. Necrosis was absent. The tumor cells in all five cases were positive for synaptophysin,Olig2 and negative for IDH1 and H3 K27M. GFAP was focally positive in four cases and only one case expressed NeuN partly. The Ki-67 labeling index was 1%-35%. BRAF fusion was detected in four cases. Genetic analysis showed solitary 1p deletion in two cases (2/5), while all cases were negative for 1p/19q co-deletion (0/5). The five patients were followed up for 13 to 28 months (median 15 month). One patient died after 27 months. There was no evidence of tumor progression in the remaining four patients.Conclusions:DLGNT is rare and easily confused with other central nervous system tumors and inflammatory lesions. Therefore, the diagnosis of DLGNT should be made based on comprehensive information including imaging, morphologic and corresponding immunohistochemical examinations and molecular genetics to avoid misdiagnosis and delay in management.

Objective To understand the distribution characteristics of death causes and potential life loss of residents in Pudong New Area from 2009 to 2018, assess the disease burden caused by different diseases, and provide a basis for formulating regional prevention and control strategies. Methods The mortality data of residents in Pudong New Area of Shanghai from 2009 to 2018 were collected. The death causes were classified by International Classification of Diseases (ICD-10). The crude mortality rate, standardized mortality rate, potential years of life lost (PYLL), potential years of life lost rate (PYLLR), and average years of life lost (AYLL) were calculated. Results The crude mortality and standardized mortality of residents in Pudong New Area between 2009 and 2018 were 7.55‰ and 3.65‰, respectively. The top five causes of death in Pudong New Area residents were circulatory system diseases, tumors, respiratory diseases, endocrine nutrition and metabolic diseases, and injury and poisoning, accounting for 87.85% of the total deaths. The PYLL was 687 729 person-years, the PYLLR was 24.11‰ and the AYLL was 3.19 years per person. The top 5 causes of life loss of residents in Pudong New Area was tumor, circulatory system disease, injury and poisoning, endocrine nutrition and metabolism illness, and congenital anomalies, accounting for 82.08% of total life loss of residents. Conclusion Chronic non-infectious diseases, including circulatory diseases, tumors, and endocrine nutritional metabolism diseases, were the main causes of death of residents in Pudong New Area, and caused a heavy disease burden, which should be the focus of prevention and control in the future. Comprehensive preventive and control measures should be taken to protect the residents from the harm due to chronic non-communicable diseases and improve the health condition of the residents in Pudong New Area.

BACKGROUND: The special genetic law of short tandem repeat on chromosome X (X-STR) makes it incomparable with autosome markers in forensic identification. However, the population genetics data is far less than that of the autosome STR, and especially the haplotype data are rarely reported.OBJECTIVE: To study the genetic polymorphism of 12 X-STR loci in Shenzhen area by pedigree analysis, aiming to provide scientific and effective data for the application of X-STR in forensic medicine and genetics. METHODS: The blood samples of 118 families were taken to extract DNA by Chelex-100, followed by PCR amplification using Investigator Argus X-12 kit. The frequency of alleles of 231 unrelated individuals was counted by direct counting method and Excel software. Hardy-Weinberg equilibrium test was performed on 12 X-STR loci of female samples by chi-square test. Discrimination power and mean exclusion chance were calculated according to the formula. Pedigree analysis was done to identify haplotypes of female samples and the haplotype frequencies of 4 linkage groups in 111 fathers and 119 mothers were calculated using direct counting method and Excel software.RESULTS AND CONCLUSION: In this study, 349 haplotypes were obtained. There were 238, 139, 153 and 157 haplotypes in linkage groups X1-X4, respectively. The polymorphism of DXS10135 locus was the highest with 21 alleles,while the polymorphism of DXS7423 locus was the worst with only 4 alleles. The combined discrimination power was 0.99999999 in males and 0.99999999 in females. The combined mean exclusion chance was 0.99999999 in trio cases,and 0.99999811 in duo cases. These findings indicate that the X-12 detection system has high polymorphism in Shenzhen Han population, and has important application value in forensic individual identification and paternity testing.