Objective To explore the application of diagnostic system with artificial intelligence(AI)in the evaluation of patients with coronary heart disease(CHD)at high altitude.Methods A total of 318 pa-tients underwent coronary CT angiography(CTA)at the hospital from January to December 2022 were pro-spectively collected.According to the altitude gradient,the patients were divided into the 2 000-3 000 m group and>3 000 m group.Coronary angiography(CAG)was used as the gold standard to verify the diag-nostic performance of AI diagnostic system.Coronary artery diagnosis system with AI technology and CT de-rived fractional flow reserve(CT-FFR)measurement system were used to evaluate the plaque structure char-acteristics and hemodynamic changes in the two groups of patients.Results Calcified plaques and vulnerable plaques in the>3 000 m group were more than those in the 2 000-3 000 m group(χ2=3.976,6.482,P= 0.046,0.011).The incidence of multi-vessel coronary artery disease,moderate stenosis,severe stenosis and complete occlusion in the>3 000 m group was higher than that in the 2 000-3 000 m group,and the inci-dence of single-vessel coronary artery disease and mild stenosis in the 2 000-3 000 m group was higher than that in the>3 000 m group(P<0.05).The incidence of CT-FFR≤0.80 and<0.70 in the>3 000 m group was higher than that in the 2 000-3 000 m group(χ2=4.782,28.118,P=0.029,<0.001).The comparison with the gold standard showed that this method has high sensitivity,specificity,and diagnostic consistency(P<0.001).Conclusion The coronary diagnosis system with AI technology has certain value in the system-atic evaluation of coronary artery characteristics and hemodynamic changes in CHD patients at high altitude.

Objective:To analyze the status quo of type D personality, intolerance of uncertainty and family support in first-episode stroke patients, and to explore the mediating role of family support between type D personality and intolerance of uncertainty in first-episode stroke patients, in order to provide reference for formulating relevant clinical intervention measures to promote the physical and mental health of first-episode stroke patients.Methods:This study was a cross-sectional investigation. A total of 300 patients with acute first-episode stroke who met the inclusion and exclusion criteria in the Department of Neurology of the General Hospital of Ningxia Medical University and the First People′s Hospital of Yinchuan from May 2023 to September 2023 were selected as the study objects by convenience sampling method. The general data questionnaire, Type D personality Scale-14, Family Caring Index Scale and the Intolerance of Uncertainty Scale were used to investigate them. Pearson correlation analysis was used to test the correlation between variables, and SPSS plug-in PROCESS 3.5 was used to test the mediation effect.Results:Finally, 300 questionnaires were effectively collected, including 228 males and 72 females. Patients aged ≥ 60 years old were the majority, accounting for 49.3% (148/300). The detection rate of type D personality in the first stroke patients was 37.3% (112/300), and the total score of Type D personality inventory, family support and intolerance of uncertainty of type D personality in the first stroke patients were (22.16 ± 9.95), (6.40 ± 2.23), (27.82 ± 7.93) points. The correlation analysis results showed that the intolerance of uncertainty of type D personality in the first stroke patients was positively correlated with type D personality scores ( r=0.675, P<0.001). There was a negative correlation with family support score ( r=-0.644, P<0.001). The results of mediating effect analysis showed that family support played a partial mediating role in the relationship between type D personality and intolerability of uncertainty in first-stroke patients, and the mediating effect accounted for 34.94% of the total effect. Conclusions:The mediating role of family support between type D personality and intolerability of uncertainty in first-stroke patients is established. In the future, the level of family support of patients can be continuously improved to reduce their intolerability of uncertainty, so as to promote the physical and mental health of patients and improve their quality of life.

Objective:To retrospectively analyze a pediatric case of X-linked hypophosphatemic rickets treated with Burosumab and improve clinicians′ awareness of the safety and effectiveness of the drug.Methods:Clinical data of the child were collected. Whole-exon genetic testing after parental consent confirmed X-linked hypophosphatemic rickets. During 18 months of Burosumab treatment, fasting blood phosphorus, alkaline phosphate, calcium, and calcium phosphate product were monitored every 11-14 days. Parathyroid hormone and 25 hydroxyvitamin D were checked every 2-6 weeks, while knee spacing, liver and kidney function, urinary calcium creatinine ratio, electrocardiogram were assessed every 3 months. Radiological imaging was performed every 6 months, with continuous follow-up of the child.Results:Whole-exon sequencing results showed a c. 1080_1081insCAATGTTA(p.T361Qfs*3) spontaneous heterozygous frameshift mutation in the PHEX gene in the child, which has not been reported previously. After the patient was treated with Burosumab for 18 months, the biochemical indexes were significantly improved, and the rickets score was reduced, without gingival abscess or other adverse events.Conclusion:The variant c. 1080_1081insCAATGTTA(p.T361Qfs*3) in the PHEX gene was identified as the cause of the patient′s condition. Burosumab, as a targeted therapeutic agent for X-linked hypophosphatemic rickets, showed significant treatment efficacy.

Objective:To explore the clinical and genetic characteristics of three children with Leguis syndrome.Methods:Three children suspected as Legius syndrome at the Henan Children′s Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:All of the children (including 2 females and 1 male, and aged 4 years and 6 months, 8 years, and 14 years and 8 months, respectively) had typical café de lait spots. Child 1 also had precocious puberty, and children 2 and 3 had short statures. Genetic testing revealed that all of them had harbored heterozygous variants of the SPRED1 gene, including c. 751C>T (p.Arg251Ter194) in child 1, c. 229A>T (p.Lys77Ter368) in child 2, and c. 1044_1046delinsC (p.R349fs *11) in child 3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 751C>T (p.Arg251Ter194) variant was predicted to be likely pathogenic, whilst the other two were known pathogenic variants. Conclusion:All of the three children were diagnosed with Leguis syndrome due to variants of the SPRED1 gene, which had manifested as multiple café de lait spots in conjunct with precocious puberty or short statures.

Objective To explore the clinical and genetic characteristics of 17α-hydroxylase/17,20-lyase deficiency(17OHD)in childhood.Methods The clinical features,laboratory and imaging examination results,gene mutation characteristics of 4 children diagnosed with 17OHD in Children's Hospital Affiliated to Zhengzhou University from January 2016 to December 2022 were retrospectively analyzed,and the literature was reviewed and summarized.Results At the time of diagnosis,the age of 4 children ranged from 11 months and 21 days to 10 years and 6 months.All patients had karyotypes of 46,XY.Social gender:1 male and 3 females.The chief complaints were 1 case of short penis,1 case of inguinal mass,and 2 cases of grade 2 hypertension,and 3 cases of testes were found in scrotum,groin and inguinal annulus,respectively.The levels of cortisol,testosterone,and androstenedione decreased at 8 o'clock in 4 children,while the levels of adrenocorticotropic hormone,progesterone,luteinizing hormone,and follicle stimulating hormone increased.17 hydroxyprogesterone was normal.Mild decrease in blood potassium levels(3.44-3.48 mmol/L)was found in 3 cases.One case of CYP17A1 homozygous mutation and three cases of compound heterozygous mutation were found,among which c.563 A＞G and c.436+1G＞T were new mutation sites that had not been reported in the past,and 3 cases had c.985_987delinsAA mutation.All 4 cases received oral hydrocortisone treatment.Conclusions Abnormal external genitalia,inguinal/labial mass and hypertension are the main features of 46,XY type 17OHD in childhood.Early hydrocortisone replacement therapy can effectively prevent the complications of 17OHD.The CYP17A1 c.985_987delinsAA mutation may be a hot topic mutation in children with 17OHD in China.

Objective To investigate the relationship between serum leucine-rich a-2 glycoprotein-1(LRG1),transforming growth factor-β1(TGF-β1)and the carotid intimal middle layer thickness(IMT)and short-term poor prognosis in acute cerebral infarction(ACI).Methods A total of 123 patients with ACI who were treated in Guangji Hospital of Suzhou from January 2020 to January 2023 were selected,and the patients were divided into normal group(23 cases),thickened group(30 cases)and plaque group(70 cases)according to the IMT,and 35 healthy physical examiners in Guangji Hospital of Suzhou during the same period were se-lected as the health control group,and the serum LRG1,TGF-β1 levels and IMT of 4 groups were compared.The patients were followed up for 3 months and divided into good prognosis group(75 cases)and poor prog-nosis group(48 cases)according to the prognosis.The correlation between serum LRG1,TGF-β1 and IMT was analyzed by Pearson method.Univariate and multivariate Logistic regression were used to analyze the risk factors of short-term poor prognosis in ACI patients.The receiver operating characteristics(ROC)curve was used to analyze the predictive value of serum LRG1 and TGF-β1 for the short-term poor prognosis of ACI.Re-sults The serum LRG1 level in health control group,normal group,thickened group and plaque group in-creased sequentially,and TGF-β1 level decreased sequentially(P＜0.05).Pearson correlation analysis showed that serum LRG1 was positively correlated with IMT,while TGF-β1 was negatively correlated with IMT(P＜0.05).Age,proportion of patients with diabetes,the National Institutes of Health Stroke Scale(NIHSS)score at admission,low-density lipoprotein cholesterol(LDL-C),fasting plasma glucose(FPG),white blood cell count(WBC),C-reactive protein(CRP)and serum LRG1 levels in the poor prognosis group were higher than those in the good prognosis group(P＜0.05),time from onset to thrombolysis was longer than that in the good prognosis group(P＜0.0.05),while the serum TGF-β1 level was lower than that in the good prognosis group(P＜0.05).Multivariate Logistic regression analysis showed that high NIHSS score,long time from onset to thrombolysis,elevated serum LRG1 level and decreased TGF-β1 level were risk factors for short-term poor prognosis in ACI patients(P＜0.05).ROC curve results showed that the area under the curve of the sin-gle and combined detection of serum LRG1 and TGF-β1 for predicting the short-term prognosis of ACI pa-tients were 0.824,0.708 and 0.902,respectively.Conclusion ACI patients have elevated serum LRG1 levels and decreased TGF-β1 levels.Serum LRG1 and TGF-β1 levels are closely related to the IMT and the short-term prognosis of ACI patients,and the combined detection of serum LRG1 and TGF-β1 levels have high ref-erence value for predicting the short-term poor prognosis of ACI patients.

Objective To analyze the influencing factors of poor anal function after laparoscopic intersphincteric resection(Lap-ISR)for extremely low rectal cancer,and to construct and verify a prediction model based on this model,in order to provide guidance for improving the anal function of patients with extremely low rectal cancer after Lap-ISR.Method A total of 127 patients with extremely low rectal cancer who underwent Lap-ISR in Taizhou People's Hospital from June 2020 to June 2022 were retrospectively selected.Patients were followed up for 12 months after surgery,and postoperative anal function was evaluated by the anal incontinence score(Wexner).According to Wexner score,the patients were divided into good anal function group(106 cases)and poor anal function group(21 cases).The clinical data of patients were collected and the risk factors affecting postoperative poor anal dysfunction were analyzed,and a Nomogram model was constructed to predict the risk of postoperative anal dysfunction in patients after Lap-ISR,and the receiver operating characteristic curve(ROC)was drawn.The area under the curve(AUC)was used to analyze the predictive efficacy of the prediction model for poor anal dysfunction after Lap-ISR.Result The incidence of anal dysfunction after Lap-ISR in patients with extremely low rectal cancer was 16.54％(21/127).Univariate analysis showed that there was no significant difference in gender,age,body mass index,clinical stage,combined underlying diseases,operation time,intraoperative blood loss,anastomosis method,and the distance from the lower edge of the tumor to the dentate line between the two groups(P＞0.05).The proportion of tumor diameter≥5 cm,the proportion of neoadjuvant chemotherapy,the distance between anastomosis and anal verge＜2 cm,and the proportion of anastomotic leakage in the anal dysfunction group were higher than those in the good anal function group(P＜0.05).Cox multivariate regression analysis showed that tumor diameter≥5 cm(OR=5.124),neoadjuvant chemotherapy(OR=5.761)and anastomotic leakage(OR=6.881)were risk factors for postoperative anal function(P＜0.05).Wexner score of patients with tumor diameter ≥5 cm was higher than that of patients with tumor diameter＜5 cm,Wexner score of patients with neoadjuvant chemotherapy was higher than that of patients without neoadjuvant chemotherapy,and Wexner score of patients with anastomotic leakage was higher than that of patients without anastomotic leakage(P＜0.05).Internal validation of Bootstrap method showed that the C-index was 0.785(95％CI:0.692-0.851).The results of ROC curve showed that the sensitivity and specificity of the nomogram model in predicting postoperative poor anal function of patients were 85.70％and 88.70％,respectively,and the AUC was 0.895(95％CI:0.795-0.984).Conclusion Tumor diameter,neoadjuvant chemotherapy and anastomotic leakage are risk factors for poor anal function after Lap-ISR in patients with extremely low rectal cancer.The nomogram risk prediction model based on the above risk factors has a good risk efficiency in evaluating the risk of postoperative anal dysfunction in patients.

Objective·To establish a patient-derived tumor xenograft(PDX)model using tumor cells sourced from malignant pleural effusion(MPE)in patients with lung cancer,and to conduct experimental validation.Methods·Gene expression data were downloaded from the Gene Expression Omnibus(GEO),including single-cell RNA sequencing data for lung cancer with MPE(GSE131907)and for solid lung cancer(GSE203360).Data were clustered,and differential gene ontology functional enrichment analysis was performed to ascertain the feasibility of modeling by using MPE.MPE samples from patients with lung cancer were collected and processed through centrifugation and red blood cell lysis to enrich cells.The enriched cells were then implanted subcutaneously into non-obese diabetic/severe combined immunodeficient(NOD/SCID)mice.Tumor growth was monitored,and when tumors reached 1 000 mm3,they were passaged and preserved.Histopathological examination was conducted on stable passaged tumors,the cell morphology was observed via hematoxylin-eosin(H-E)staining and the expression of lung cancer biomarkers was detected by using immunohistochemistry(IHC).Results·Single-cell data analysis revealed stronger proliferative functions of tumor cells in MPE,suggesting that PDX modeling using MPE tumor cells may yield better tumor formation.A total of 35 samples of MPE from lung cancer patients were collected,and 13 PDX models were successfully constructed,with a success rate of 37.14％.Histopathological examination showed significant cellular atypia by H-E staining,and IHC result showed positive expression of lung cancer biomarkers such as cytokeratin 7(CK7),thyroid transcription factor-1(TTF1),and Napsin A.Conclusion·By enriching tumor cells from MPE of lung cancer patients,a more convenient,efficient,and dynamically modelable PDX model is successfully constructed.This model retains the malignant characteristics and protein expression features of tumor cells from lung cancer patients,providing an important experimental model tool for basic research and clinical drug guidance for lung cancer patients with MPE.

Objective:To analyze and determine the clinical and genetic characteristics of children with Helsmoortel-Van der Aa syndrome(HVDAS).Methods:Clinical data of 6 children with HVDAS treated at the First Hospital of Peking University from November 2018 to October 2022 and their family members were collected and analyzed retrospectively.Whole exome sequencing was performed on children and their family members to identify the genetic variants.Genotype and phenotype correlation was analyzed.Results:(1) Clinical analysis results: among the 6 children, there were 5 boys and 1 girl, and their age at diagnosis ranged from 11 months and 17 days to 12 years and 9 months.Six patients all presented with developmental delays/intellectual disabilities; (2) Genetic analysis results: 6 de novo ADNP variants were discovered in 6 children, including 1 initial codon deletion variant c. 1_2del, 2 nonsense variants c. 1175dup, p.(Tyr392*) and c. 2213C>G, p.(Ser738*), and 3 frameshift variants c. 2632dup, p.(Ser878Lysfs*3), c.1695_1696insATGGTATGTATGTATGTATG, p.(Val566Metfs*8) and c. 2120_2123del, p.(Asn707Serfs*8).All variants were classified as pathogenic variants by the American College of Medical Genetics and Genomics.Except the c. 2213C>G, p.(Ser738*), the other 5 variants are all novel variants that have not been reported before. Conclusions:All of the 6 cases of HVDAS showed typical clinical manifestations, and expanded the phenotype spectrum of microcephaly and tall stature.Six de novo mutations were discovered, expanding the ADNP mutation spectrum and providing accurate genetic counseling and prenatal genetic diagnosis of the disease.

Objective:To explore the potential categories of psychological distress in spousal caregivers of stroke patients and differences in quality of life between categories, in order to provide a theoretical basis for early clinical identification and provision of individualized and targeted interventions for psychological distress in spousal caregivers of stroke patients and improvement of their quality of life.Methods:A total of 207 spouse caregivers of stroke patients hospitalized in three class 1-Grade A hospitals in Yinchuan city of Ningxia Hui Autonomous Region, who met the inclusion and exclusion criteria were selected from December 2020 to July 2021 by convenience sampling method as study subjects. The general information questionnaire, Kessler Psychological Distress Scale, and the Mos 36-Item Short from Health Survey were used for a cross-sectional survey.Results:A total of 203 spousal caregivers of stroke patients were finally investigated, 46 males and 157 females with a age of (58.65 ± 9.66) years. Psychological distress among spousal caregivers of stroke patients was categorized into 3 potential categories:no distress group (40%, 81/203), listlessness group (45%, 91/203) and helplessness and restlessness group (15%, 31/203). The psychological distress subgroup was a factor influencing the quality of life of spousal caregivers of stroke patients ( t=-10.03, P<0.05), explaining 33.0% of the variance in quality of life. Conclusions:Psychological distress in spousal caregivers of stroke patients is significantly heterogeneous. Those in the helplessness and restlessness group have the lowest quality of life and should be given focused attention and early intervention.