Objective To develop and validate a machine learning-based predictive model to assess the in-hospital mortality risk of patients with myocardial infarction(MI)complicated by heart failure(HF)undergoing percutaneous coronary intervention(PCI).Methods This retrospective study analyzed MI patients with HF who underwent PCI at The First Affiliated Hospital of Xinjiang Medical University from January 2019 to January 2023.Patient data,including demographic characteristics,vital signs,laboratory test results,imaging parameters and medication use,were collected and randomly divided into a training set(70％)and a validation set(30％).The extreme gradient boosting(XGBoost)model was used to identify variables significantly associated with in-hospital mortality,and the Shapley additive explanations(SHAP)model was applied to assess feature importance.A predictive model was then constructed using univariate and multivariate Logistic regression analyses.Model performance was evaluated using receiver operating characteristic(ROC)curves,area under the curve(AUC)values,calibration curves,and decision curve analysis.Finally,a nomogram was developed for intuitive risk assessment.Results A total of 1 214 MI patients with HF were included in the study,with a median age of 64 years.The in-hospital mortality rate was 7.41％(90 deaths).XGBoost feature selection identified ten key predictive variables:age,myoglobin,albumin,fasting blood glucose,N-terminal pro-B-type natriuretic peptide(NT-proBNP),diabetes mellitus,creatinine,cystatin C,procalcitonin,and left ventricular ejection fraction.Based on these variables,a Logistic regression model was developed,with seven final predictors:age,diabetes mellitus,creatinine,fasting blood glucose,cystatin C,NT-proBNP,and albumin.The model demonstrated high predictive accuracy,with AUC value of 0.869(95％CI:0.84-0.89)in the training set and 0.827(95％CI:0.79-0.85)in the validation set.The calibration curve indicated that the predicted probabilities were consistent with the actual observed outcomes,and decision curve analysis showed that the model had a high net benefit across various decision thresholds.Conclusion This study developed a machine learning-based predictive model incorporating Logistic regression to assess the in-hospital mortality risk of MI patients with HF undergoing PCI.The model demonstrated high predictive performance and clinical utility.The nomogram derived from this model provides an intuitive tool for individualized risk assessment,aiding clinicians in the early identification of high-risk patients,optimizing intervention strategies,and improving patient outcomes.

Objective To analyze the long-term trend in the disease burden of congenital birth defects(CBDs)among neonates in China from 1990 to 2021,compare the trend with global patterns,and identify key subtypes along with their association with socioeconomic status to provide evidence for public health interventions.Methods Utilizing data from the Global Burden of Disease Study 2021(GBD 2021),we extracted indicators including disability-adjusted life years(DALYs),mortality,and prevalence for the neonatal period(＜28 days)in China,encompassing ten major CBD subtypes.Joinpoint regression analysis was employed to calculate annual percent changes and estimate annual percent changes(EAPC),with comparisons of subtype composition between 1990 and 2021.Nonlinear regression was used to assess the relationship between DALYs rates and the Socio-demographic Index(SDI).Results From 1990 to 2021,DALYs rates for neonatal CBDs declined significantly both globally and in China,with China's EAPC at-4.67％[95％CI:(—5.06,—4.28)],substantially exceeding the global average of-1.70％[95％CI:(—1.75,—1.64)].Congenital heart anomalies remained the primary burden,while neural tube defects and orofacial clefts in China showed notable reductions(EAPCs of-7.25％and-11.22％,respectively).However,DALYs rates for congenital musculoskeletal and limb anomalies exceeded global expected levels.A resurgence in the prevalence was observed post-2015,with higher burdens in males.DALYs rates exhibited a negative correlation with SDI.Conclusion China has achieved significant reductions in the neonatal CBDs burden,surpassing global trends;yet challenges persist in managing congenital heart anomalies and musculoskeletal defects.Future efforts should focus on enhancing early screening,surgical interventions,and regional equity to align with global health objectives.

Objective To develop and validate a machine learning-based predictive model to assess the in-hospital mortality risk of patients with myocardial infarction(MI)complicated by heart failure(HF)undergoing percutaneous coronary intervention(PCI).Methods This retrospective study analyzed MI patients with HF who underwent PCI at The First Affiliated Hospital of Xinjiang Medical University from January 2019 to January 2023.Patient data,including demographic characteristics,vital signs,laboratory test results,imaging parameters and medication use,were collected and randomly divided into a training set(70％)and a validation set(30％).The extreme gradient boosting(XGBoost)model was used to identify variables significantly associated with in-hospital mortality,and the Shapley additive explanations(SHAP)model was applied to assess feature importance.A predictive model was then constructed using univariate and multivariate Logistic regression analyses.Model performance was evaluated using receiver operating characteristic(ROC)curves,area under the curve(AUC)values,calibration curves,and decision curve analysis.Finally,a nomogram was developed for intuitive risk assessment.Results A total of 1 214 MI patients with HF were included in the study,with a median age of 64 years.The in-hospital mortality rate was 7.41％(90 deaths).XGBoost feature selection identified ten key predictive variables:age,myoglobin,albumin,fasting blood glucose,N-terminal pro-B-type natriuretic peptide(NT-proBNP),diabetes mellitus,creatinine,cystatin C,procalcitonin,and left ventricular ejection fraction.Based on these variables,a Logistic regression model was developed,with seven final predictors:age,diabetes mellitus,creatinine,fasting blood glucose,cystatin C,NT-proBNP,and albumin.The model demonstrated high predictive accuracy,with AUC value of 0.869(95％CI:0.84-0.89)in the training set and 0.827(95％CI:0.79-0.85)in the validation set.The calibration curve indicated that the predicted probabilities were consistent with the actual observed outcomes,and decision curve analysis showed that the model had a high net benefit across various decision thresholds.Conclusion This study developed a machine learning-based predictive model incorporating Logistic regression to assess the in-hospital mortality risk of MI patients with HF undergoing PCI.The model demonstrated high predictive performance and clinical utility.The nomogram derived from this model provides an intuitive tool for individualized risk assessment,aiding clinicians in the early identification of high-risk patients,optimizing intervention strategies,and improving patient outcomes.

Objective To analyze the long-term trend in the disease burden of congenital birth defects(CBDs)among neonates in China from 1990 to 2021,compare the trend with global patterns,and identify key subtypes along with their association with socioeconomic status to provide evidence for public health interventions.Methods Utilizing data from the Global Burden of Disease Study 2021(GBD 2021),we extracted indicators including disability-adjusted life years(DALYs),mortality,and prevalence for the neonatal period(＜28 days)in China,encompassing ten major CBD subtypes.Joinpoint regression analysis was employed to calculate annual percent changes and estimate annual percent changes(EAPC),with comparisons of subtype composition between 1990 and 2021.Nonlinear regression was used to assess the relationship between DALYs rates and the Socio-demographic Index(SDI).Results From 1990 to 2021,DALYs rates for neonatal CBDs declined significantly both globally and in China,with China's EAPC at-4.67％[95％CI:(—5.06,—4.28)],substantially exceeding the global average of-1.70％[95％CI:(—1.75,—1.64)].Congenital heart anomalies remained the primary burden,while neural tube defects and orofacial clefts in China showed notable reductions(EAPCs of-7.25％and-11.22％,respectively).However,DALYs rates for congenital musculoskeletal and limb anomalies exceeded global expected levels.A resurgence in the prevalence was observed post-2015,with higher burdens in males.DALYs rates exhibited a negative correlation with SDI.Conclusion China has achieved significant reductions in the neonatal CBDs burden,surpassing global trends;yet challenges persist in managing congenital heart anomalies and musculoskeletal defects.Future efforts should focus on enhancing early screening,surgical interventions,and regional equity to align with global health objectives.

Clinical data of 210 patients with early colorectal cancer and precancerous lesion treated by endoscopic submucosal dissection (ESD) in the Digestive Endoscopy Center of the Seventh Medical Center of Chinese PLA General Hospital from January 2015 to March 2018 were collected and analyzed retrospectively. Patients were divided into two groups according to the age: the elderly group (≥65 years old, 100 cases) and the non-elderly group (<65 years old, 110 cases). The en bloc resection rate, complete resection rate,and curative resection rate of the elderly group were 92.0% (92/100), 91.0% (91/100) and 89.0% (89/100), respectively. The above indicators of the non-elderly group were 90.9% (100/110) ( P=0.972), 90.0% (99/110) ( P=0.991) and 88.2% (97/110) ( P=1.000), respectively. The incidence of intraoperative perforation in the elderly group was 4.0% (4/100) and in the non-elderly group was 6.4% (7/110) ( P=0.543). Delayed postoperative bleeding rate was 2.0% (2/100) in the elderly group, and 0 (0/110) in the non-elderly group ( P=0.226). ESD is effective and safe in treating early colorectal cancer and precancerous lesion in elderly patients.

Inhibition of human epidermal growth factor receptor 2 mediated cell signaling pathway is an important therapeutic strategy for HER2-positive cancers. Although monoclonal antibodies are currently used as marketed drugs, their large molecular weight, high cost of production and susceptibility to proteolysis could be a hurdle for long-term application. In this study, we reported a strategy for the development of artificial antibody based on

Objective:To investigate the expressions and significances of autophagy-related genes Beclin-1, LC3 and p62 in esophageal squamous cell carcinoma (ESCC).Methods:The clinical data of 112 patients with primary ESCC who underwent surgery at the 81st Group Army Hospital of Chinese PLA from January 2015 to December 2016 were retrospectively analyzed. Immunohistochemistry was used to examine the expressions of Beclin-1, p62 and LC3 proteins in 112 ESCC tissues and 31 adjacent normal esophageal mucosa tissues. Furthermore, the expressions of the above three autophagy-related markers in ESCC and the relationship between their expressions and the clinicopathological characteristics of patients were analyzed.Results:The positive expression rates of Beclin-1, LC3 and p62 in ESCC tissues were 32.14% (36/112), 37.50% (42/112) and 63.39% (71/112), The positive expression rates of Beclin-1, LC3 and p62 in adjacent normal esophageal mucosa tissues were 61.29% (19/31), 64.52% (20/31) and 32.26% (10/31), and the differences were statistically significant ( χ2 values ??were 8.715, 7.216 and 9.584, all P < 0.01). The positive expression rates of Beclin-1 and LC3 in ESCC were lower than those in adjacent normal esophageal mucosa tissues, and the positive expression rate of p62 in ESCC was higher than that in adjacentnormal esophageal mucosa tissues. In ESCC patients, the expression of Beclin-1 was related to histological grade, infiltration depth, TNM staging and lymph node metastasis (all P < 0.05); the expression of LC3 was related to infiltration depth and TNM staging (both P < 0.01); the expression of p62 was related to lymph node metastasis ( P < 0.01). In ESCC, the expression of LC3 was positively correlated with the expression of Beclin-1 ( r = 0.731, P = 0.001), and negatively correlated with the expression of p62 ( r = -0.215, P = 0.023). Conclusions:Autophagy plays a certain role in the occurrence and development of ESCC. Combined detection of autophagy-related genes Beclin-1, p62 and LC3 can assist clinical diagnosis and guide follow-up comprehensive treatment.

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported. CONCLUSION The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Female ; Heterozygote ; Humans ; Isovaleryl-CoA Dehydrogenase/genetics* ; Male ; Mutation

OBJECTIVE: To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS: Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. RESULTS: The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age. CONCLUSION The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.
Aged ; Alagille Syndrome/genetics* ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Phenotype

Objective:To analyze the clinical characteristics and SLC25A13 gene mutation in children with neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD).Methods:The data of 18 children diagnosed with NICCD in Xi′an Children′s Hospital from January 2014 to December 2018 were collected.The clinical manifestations, biochemical characteristics, SLC25A13 gene mutation and prognosis were analyzed.Results:All the 18 cases of NICCD were from North China and the age of initial diagnosis averaged(63.4±19.5)days.The clinical manifestations included jaundice(100%), light yellow or white stool(38.9%), growth retardation(27.8%)and so on.All patients had cholestasis.Of 18 cases, the levels of glutamyltranspeptidase, total bile acid and alpha fetoprotein were all increased, and serum albumin was decreased.Elevated aspartate aminotransferase(94.4%), elevated glutamic pyruvic transaminase(72.2%), prolonged prothrombin time(88.9%), hyperlactemia(83.3%), hypoglycemia(77.8%), anemia(66.7%)and other biochemical abnormalities were observed.Citrulline and other serum amino acids of all cases were elevated in blood samples by tandem mass spectrometry.The increase of 4-hydroxyphenyllactate and 4-hydroxyphenylpyruvate was found in 70%(7/10)urine samples by gas chromatography.Age was negatively correlated with total bile acid( r=-0.469, P=0.049), and positively correlated with blood ammonia, threonine, methionine, ornithine and tyrosine( r=0.472, 0.690, 0.698, 0.678 and 0.769, respectively, P<0.05). A total of 16 SLC25A13 gene mutations were detected, of them c. 851_854del(33.3%)and c. 1638_1660dup(19.4%)were the most common.c.1841+ 3_1841+ 4del, c.980_981del(p.E327Vfs*45)and c. 602A>T(p.E201V)were novel mutations.Among the 17 children who were followed up, 1 case died and 16 cases had normal biochemical parameters within 1 year. Conclusion:The characteristic biochemical changes are helpful for early recognition of NICCD.The prognosis of NICCD is good if the treatment is appropriate and timely.c.851_854del and c. 1638_1660dup are high-frequency mutations of SLC25A13 gene in north China.