Objective To construct machine learning models based on preoperative inflammatory and radiological features for the prediction of glioma grading and isocitrate dehydrogenase (IDH) mutation status, and to analyze application values of these models and identify the optimal predictive models. Methods A retrospective analysis was conducted on the data of pathologically confirmed glioma patients admitted to Tongji Hospital Affiliated to Tongji University from March 2019 to March 2023. LASSO regression was used to screen feature variables, and predictive models were constructed based on logistic regression (LR), random forest (RF), support vector machine (SVM), gradient boosting decision tree (XGBoost) and K-nearest neighbor (KNN) algorithms. The model performance was comprehensively evaluated using metrics including discrimination ability, area under the precision-recall curve (AUC), accuracy, F1 score and Brier score. The DeLong test was adopted to compare the AUC values among different models; Friedman rank-sum test was used to determine the overall performance differences of the models, with the Nemenyi test applied for multiple comparison correction. Results In the task of glioma grading prediction, the LR model achieved the highest comprehensive score (0.726), and no significant difference was observed between the LR model and the other four models; age was positively correlated with glioma grading (P=0.003). In the task of IDH mutation status prediction, the XGBoost model obtained the highest comprehensive score (0.832), which was superior to the LR (0.762, P=0.035) and KNN models (0.754, P=0.025), while no statistical differences were found between the XGBoost model and the RF or SVM models. Conclusions The LR model for glioma grading prediction and XGBoost model for IDH mutation prediction constructed based on a task-oriented strategy achieve a favorable interpretability while ensuring optimized performance, thereby providing reliable decision support for the individualized diagnosis and treatment of glioma.

Objective To analyze the prevalence of malignant tumors in cancer registration areas in Hubei Province in 2021. Methods Data on the incidence and mortality of malignant tumors from 31 cancer registries in Hubei Province in 2021 were collected. Incidence, mortality (crude rate, ASRC, and ASRW), and cumulative rates in the 0-74-year-old age group were calculated by gender, urban-rural area, and age group. Descriptive epidemiological methods were used to describe and analyze the incidence and mortality characteristics of malignant tumors in cancer registration areas in Hubei Province in 2021. Results In 2021, malignant tumors in cancer registration areas in Hubei Province had an incidence of 329.62/10⁵, an ASIRC of 189.33/10⁵, an ASIRW of 201.50/10⁵, and a cumulative rate of 20.81% in the 0-74-year-old age group. Malignant tumors had a mortality rate of 183.59/10⁵, an ASMRC of 90.36/10⁵, an ASMRW of 103.22/10⁵, and a cumulative rate of 10.26% in the 0-74-year-old age group. Incidence and mortality were higher in males than in females, with incidence rates in urban areas being significantly higher than those in rural areas, whereas urban and rural mortality rates showed no significant difference. The incidence of malignant tumors gradually increased with age, peaking in the 75-79-year-old age group. Mortality rose rapidly after 45 years and peaked in the 85+-year-old age group. Significant gender and urban–rural differences were found in the incidence and mortality of malignant tumors. The leading cause of incidence across the province was lung cancer, followed by female breast, thyroid, colorectal, and liver cancers. The top five causes of death were lung, liver, stomach, colorectal, and esophageal cancers. The incidence rates of female breast, thyroid, and colorectal cancers were higher in urban areas than in rural areas, whereas the burden of liver and cervical cancers was more prominent in rural areas than in urban areas. Significant differences were found in the incidence of malignant tumors among different cities and counties. Conclusion In 2021, the burden of malignant tumors in cancer registration areas in Hubei Province was primarily caused by lung, digestive tract, liver, and female breast cancers, with significant regional differences. This situation seriously endangers the health of residents. Comprehensive prevention and control measures should be continuously strengthened to reduce the burden of malignant tumors.

OBJECTIVE: To explore the spectrum of genetic variants and phenotypes of Phenylalanine hydroxylase deficiency (PAHD) in Lianyungang area and the correlation between genotype and phenotypes among the patients. METHODS: Eighty children with Hyperphenylalaninemia (HPA) diagnosed at the Lianyungang Branch of Jiangsu Provincial Newborn Screening Center between January 2015 and December 2022 were enrolled. Peripheral blood samples were collected for genetic analysis using next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) to identify the variants of PAH gene. Clinical and phenotypic data were concurrently analyzed to investigate the correlation between the types of PAH gene variant and phenotypes. This study was approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No.: XM2022041). RESULTS: PAH gene variants were identified in 93.75% (75/80) of the children, classified as PAHD cases, while 6.25% (5/80) harbored PTS gene variants. Of the 150 PAH alleles from 75 PAHD children, a total of 152 variants (55 distinct types) were detected, with a detection rate of 100%. 80.26% (122/152) of the variants were located in exons, with the main types being missense variants (67.11%, 102/152). 53.29% (81/152) of coding sequence variants have occurred in the PAH gene's catalytic center region, while 19.74% (30/152) of the variants involved non-coding sequences. The phenotypes of the 75 PAHD children were evenly distributed. The re-screened Phe concentrations and Phe/Tyr ratios of classic-phenylketonuria (CPKU) and mild-phenylketonuria (MPKU) patients were markedly higher than initial screening values (P < 0.001, P < 0.001; P = 0.004, P = 0.016). The genotypes of the PAHD patients mostly occurred as compound heterozygotes, and different mutation positions and variant types have significantly affected the phenotypes (P = 0.042, P = 0.045). APV/GPV genotype-phenotype analysis of 61 patients showed high consistency between predicted and actual phenotypes (κ = 0.755, P < 0.001). CONCLUSION PAH gene variants were detected in most HPA children from Lianyungang area. The location and type of PAH gene variants has correlated with the severity of the phenotype, and the non-coding sequence variants and non-missense variants may aggravate the phenotype, and the APV/GPV model has predicted the phenotype with high consistency with the actual phenotype.
Humans ; Phenylalanine Hydroxylase/genetics* ; Female ; Phenylketonurias/enzymology* ; Male ; Phenotype ; Genotype ; Child ; Infant ; Infant, Newborn ; Child, Preschool ; China ; Mutation ; Alleles

Objective To explore the potential targets and pathways of Yanghe Decoction for the treatment of granulomatous lobular mastitis(GLM)using network pharmacology and molecular docking;To experimentally validate its mechanism.Methods Active components and targets of Yanghe Decoction were screened through TCMSP and TCM-ID.GLM targets were retrieved from GeneCards and OMIM databases,the intersection of drug targets and disease targets was taken,and a protein interaction network was constructed.GO and KEGG pathway enrichment analysis was performed.Molecular docking of main components and key targets was conducted.Totally 60 SD rats were randomly divided into blank group,model group,prednisolone group(0.005 g/kg),and Yanghe Decoction low-,medium-and high-dosage groups(2.5,5.0,10.0 g/kg).Except for the blank group,GLM models were constructed for all other groups,and corresponding drug interventions were given to each treatment group for 14 consecutive days.The body mass and breast mass size of rats were recorded,breast ultrasound images were collected,and the inflammatory index score was scored.The pathological morphology of rat breast tissue was observed through HE staining.ELISA was used to detect the contents of IL-1β,IL-6 and TNF-α in serum.Western blot was used to detect the protein expressions of IL-1β,IL-6,TNF-α,IκBα,TLR4 and p65 in breast tissue.Results Yanghe Decoction was screened for 140 active components,363 targets,and 32 intersecting targets with GLM,mainly involving NF-κB,PI3K-Akt signaling pathway,etc.Molecular docking showed that the main components had good binding activities with key targets.Compared with the blank group,rats in the model group showed obvious redness and swelling of the breasts with a large range of lumps and a significant increase in mammary inflammation index score(P<0.01),and ultrasound could detect a large range of patchy hypoechoic areas,and pathological changes showed a variety of inflammatory cell infiltration in the mammary lobules and the formation of tiny abscesses,and the serum contents of IL-1β,IL-6 and TNF-α in the model group significantly increased(P<0.01),the protein expressions of IL-1β,IL-6,TNF-α,TLR4 and p65 in breast tissue significantly increased(P<0.01),and the protein expression of IκBα significantly decreased(P<0.05).Compared with the model group,the erythema of the breasts of the rats in each treatment group was improved,and the extent of the lumps was reduced,and the reduction in the size of the lumps in the prednisolone group and the Yanghe Decoction high-dosage group was obvious(P<0.05).The inflammatory index score of prednisolone group and Yanghe Decoction groups decreased to different degrees(P<0.01),ultrasound showed a smaller range of hypoechoic area,pathology showed a reduction in the infiltration of inflammatory cells,and a reduction in the formation of granulomas and abscesses,and the prednisolone group and Yanghe Decoction groups significantly down-regulated the contents of IL-1β and TNF-α in serum(P<0.01),and the prednisolone group and Yanghe Decoction middle-and high-dosage groups significantly down-regulated the content of IL-6 in serum(P<0.05,P<0.01),the expression of TLR4 protein in breast tissue was significantly decreased in Yanghe Decoction high-dosage group(P<0.05),the expressions of IL-1β,IL-6,TNF-α and p65 proteins in prednisolone group and Yanghe Decoction groups were significantly decreased(P<0.05,P<0.01),and the expression of the protein of IκBα significantly increased(P<0.01).Conclusion Yanghe Decoction can reduce the inflammatory response in GLM rats,and its mechanism may be related to the inhibition of TLR4/NF-κB signalling pathway.

Contrast-free percutaneous coronary intervention demonstrates significant value in reducing contrast-associated risks.This article reports a case of a patient with iodine contrast allergy and complex coronary artery disease(involving the left main stem,left anterior descending artery,and diagonal branch),who successfully underwent contrast-free percutaneous coronary intervention(PCI)through the integration of CT angiography(CCTA),intravascular ultrasound(IVUS),and fractional flow reserve(FFR)technology.Preoperative CCTA delineated the anatomy and planned the procedural approach.Intraoperatively,IVUS assessed plaque burden and vascular remodeling,precisely guiding stent selection and positioning.FFR was combined to evaluate the functional significance of the left main stem lesion and the ischemic significance of the specific stenosis in the left anterior descending artery.Post-procedural assessment evaluated stent result and the degree of flow limitation in the diagonal branch.Through"structure-function"dual optimization,revascularization of the left anterior descending artery was achieved using a single-stent strategy,avoiding intervention on the left main stem.This case confirms that multi-modality imaging techniques can safely manage complex lesions,significantly reduce contrast volume,and are suitable for high-risk patients with allergies or renal insufficiency.Future efforts should focus on standardizing technical protocols and accumulating evidence-based evidence to facilitate the clinical implementation of contrast-free interventions.

[Purpose]To analyze the prevalence and disease burden of malignant tumors in cancer registration areas of Hubei Province in 2020.[Methods]The incidence and mortality data of ma-lignant tumors in cancer registration areas in Hubei Province in 2020 were collected,and the data were quality controlled according to the quality evaluation standards and methods formulated by the National Cancer Center.The data from 24 registries met the inclusion criteria.Using descrip-tive epidemiological methods to calculate incidence/mortality rate,age-specific incidence/mortality rate,standardized incidence/mortality rate by Chinese standard population(ASRC),standardized incidence/mortality rate by world standard population(ASRW).Disability-adjusted life years(DALY)and DALY rates were calculated using formulas provided by the World Health Organization to as-sess the disease burden of malignant tumors.[Results]In 2020,the crude incidence of malignant tumors in cancer registration areas of Hubei Province was 311.36/105,the ASRC was 184.14/105,the ASRW was 197.37/105,and the cumulative rate of 0～74 years old was 20.52％.The age-spe-cific incidence of malignant tumors in the province and rural areas reached its peak in the age group of 75～79 years old,while in urban areas it reached its peak in the age group of 80～84 years old.In 2020,the crude mortality rate of malignant tumors in cancer registration areas of Hubei Province was 184.58/105,the ASRC was 96.91/105,the ASRW was 110.92/105,and the cumulative rate of 0～74 years old was 11.01％.The age-specific mortality rate of malignant tumors in the province and urban areas reached its peak in the age group of above 85 years old,while in rural areas it reached its peak in the age group of 80～84 years old.Lung cancer ranked first in the incidence and mortality of malignant tumors in the province.In the cancer registration area of Hubei Province,the DALY of malignant tumors in 2020 was 641 497 person-years,and the DALY rate was 28.6‰.[Conclusion]Common cancers such as lung cancer,female breast cancer and upper digestive tract cancer have a great impact on the incidence,mortality and disease burden of malignant tumors in Hubei Province.Targeted cancer screening and early diagnosis and treatment are the most effective means to improve social and economic benefits.

[Purpose]To analyze the epidemiological characteristics of lung cancer in 2020 and the trend from 2012 to 2020 in Hubei Province.[Methods]Qualified lung cancer registry data reported by 24 cancer registries in Hubei Province was utilized to estimate the number of new lung cancer cases and deaths.Incidence/mortality rate,age-specific incidence/mortality rate,age-standardized incidence/mortality rate by Chinese standard population(ASIRC and ASMRC)and by world stan-dard population(ASIRW and ASMRW),cumulative rate of 0～74 years old and other indicators of lung cancer in urban and rural areas,different sex,age groups in 2020 were calculated.Annual percentage change(APC),average annual percentage change(AAPC)and 95％confidence interval(CI)were calculated to analyze the trends of incidence and mortality of lung cancer in cancer regi-stration areas of Hubei Province from 2012 to 2020.[Results]In 2020,the estimated number of new lung cancer cases in Hubei Province was 41 531,accounting for 23.17％of all new cancer cases.The incidence rate was 72.13/105,with the ASIRC of 38.19/105 and ASIRW of 42.75/105 respectively.The cumulative incidence rate of 0～74 years old was 4.82％.The estimated number of lung cancer deaths in Hubei Province in 2020 was 31 374,accounting for 29.52％of all cancer deaths.The mortality rate was 54.49/105,with the ASMRC of 27.66/105 and ASMRW of 31.95/105,respectively.The cumulative mortality(0～74 years old)was 3.36％.The incidence of lung cancer was higher in urban areas than that in rural areas,and higher in men than that in women.The in-cidence and mortality of lung cancer increased with age,and reaching the peak in the age groups of 75～79 and 80～85 years old respectively.From 2012 to 2020,the overall trend of crude inci-dence and mortality of lung cancer in Hubei Province was stable.The ASIRC and ASMRC showed a slow decline during 2012-2020,with the AAPCs of-0.51％(95％CI:-1.06％～-0.02％)and-1.84％(95％CI:-2.65％～-0.53％),respectively.The ASIRC showed a slow decline(APC=-1.76％,95％CI:-3.30％～-1.03％)during 2012-2018 and increase trend(APC=3.33％,95％CI:0.61％～5.02％)during 2018-2020,respectively,while ASMRC showed a significant decrease trend(APC=-3.00％,95％CI:-6.58％～-1.13％)during 2016-2020.[Conclusion]The incidence and mortality levels of lung cancer in Hubei Province were relatively high,resulted in a heavy disease burden and no significant downward trend.In the future,we should continue to strengthen the compre-hensive prevention and treatment of lung cancer,and promote lung cancer screening and early diagno-sis and treatment for target populations vigorously,especially in rural areas.

[Purpose]To analyze the opportunistic screening results of upper gastrointestinal can-cer in Hubei Province from 2022 to 2023.[Methods]The data of upper gastrointestinal cancer opportunistic screening program in Hubei Province from January 1,2022 to December 31,2023 were summarized.The biopsy rate,positive lesion detection rate and early diagnosis rate were ana-lyzed.The differences in rates between/among different sexes,age groups and regions were com-pared by x2 test,trend x2 test.[Results]A total of 372 507 people were included in the oppor-tunistic screening of upper gastrointestinal cancer from 2022 to 2023.Among them,100 379 in-dividuals underwent biopsy histopathological examination,with a biopsy rate of 26.95％.A total of 4 678 positive cases(high-grade intraepithelial neoplasia,early-stage cancer and advanced can-cer)were detected in the opportunistic screening,with a positive lesion detection rate of 1.26％.The detection rates of positive lesion in the esophagus,cardia and stomach were 0.61％,0.07％and 0.58％,respectively.There were 721 cases of early upper gastrointestinal cancer(high-grade intraepithelial neoplasia,early-stage cancer),representing an early diagnosis rate of 15.41％.The early diagnosis rates for the esophagus,cardia and stomach were 14.53％,11.96％and 16.89％,respectively.[Conclusions]The implementation of opportunistic screening for upper gastrointesti-nal cancer is conducive to expanding the coverage of screening.It is necessary to strengthen stan-dardized and homogeneous training and complete high-quality endoscopic examination to improve the detection rate and early diagnosis rate of opportunistic screening program for upper gastroin-testinal cancer.

Malignant tumors,as chronic diseases that seriously affect human life and health,are one of the most serious public health problems worldwide in the 21st century.Hubei Province at-taches great importance to the prevention and control of chronic diseases such as cancer,and launched the"323"campaign in 2021.This paper reviews the progress of cancer prevention and control in the"323"campaign from 2021 to 2024 from the aspects of science popularization,tu-mor registration,cancer screening,standardized diagnosis and treatment,and grassroots capacity improvement,and explores the key points of cancer prevention and control work in Hubei Province in the next step.

Objective:To explore the spectrum of genetic variants and phenotypes of Phenylalanine hydroxylase deficiency (PAHD) in Lianyungang area and the correlation between genotype and phenotypes among the patients.Methods:Eighty children with Hyperphenylalaninemia (HPA) diagnosed at the Lianyungang Branch of Jiangsu Provincial Newborn Screening Center between January 2015 and December 2022 were enrolled. Peripheral blood samples were collected for genetic analysis using next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) to identify the variants of PAH gene. Clinical and phenotypic data were concurrently analyzed to investigate the correlation between the types of PAH gene variant and phenotypes. This study was approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No.: XM2022041). Results:① PAH variants were identified in 93.75% (75/80) of the children, classified as PAHD cases, while 6.25% (5/80) harbored PTS variants. ② Of the 150 PAH alleles from 75 PAHD children, a total of 152 variants (55 distinct types) were detected, with a detection rate of 100%. 80.26% (122/152) were located in exons, with the main types of variants were missense variants (67.11%, 102/152). 53.29% (81/152) of coding sequence variants occurred in the PAH gene catalytic center region of PAH protein, while 19.74% (30/152) of variants involved non-coding sequences. ③The phenotypes of the 75 PAHD children were evenly distributed. The rescreening Phe concentrations and Phe/Tyr ratios of classic-phenylketonuria (CPKU) and mild-phenylketonuria (MPKU) patients were markedly higher than initial screening values ( P<0.001, P<0.001; P=0.004, P=0.016). The genotypes of the PAHD patients mostly occurred as compound heterozygotes, and different mutation positions and variant types significantly affect the phenotype ( P=0.042, P=0.045). ④APV/GPV genotype-phenotype analysis of 61 patients showed high consistency between predicted and actual phenotypes ( κ=0.755, P<0.001). Conclusion:PAH variants were detected in the most of HPA children in Lianyungang area. The location and type of PAH variants were related to the severity of the phenotype, and the non-coding sequence variants and non-missense variants may aggravate the phenotype, and the APV/GPV model predicted the phenotype was highly consistent with the actual phenotype.