Purpose/Significance To explore the research progress of health recommender system(HRS),so as to provide refer-ences for medical personnel to build HRS to help intelligent health care.Method/Process The application of common recommendation technology and HRS in the field of health care is summarized by literature research,and the research status and development direction of HRS is discussed.Result/Conclusion HRS has been applied in health service recommendation,diet recommendation,health behavior promotion,disease prognosis characteristics and health risk prediction,chronic disease management,mental health promotion and medi-cation recommendation,and the related research is conducive to the development of intelligent health care.

Objective:To explore the genetic etiology of a child featuring multiple fractures and congenital insensitivity to pain (CIP).Methods:A child who had presented at the West China Hospital of Sichuan University on March 16, 2023 for recurrent fractures and CIP was selected as the study subject. Peripheral blood samples of the child and his parents was collected. Trio-whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (No. 2019-772).Results:Trio-whole exome sequencing revealed that the child has harbored compound heterozygous variants of the SCN9A gene, namely c. 560delC (p.P187Rfs*15) and c. 829C>T (p.R277*), which were respectively inherited from his father and mother. Homozygous c. 829C>T variant had been demonstrated as pathogenic among CIP patients, whilst the c. 560delC (p.P187Rfs*15) variant was unreported previously and predicted to be pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (ACMG). Conclusion:The child was diagnosed with CIP due to the compound heterozygous variants of the SCN9A gene. Above finding has enabled genetic counselling and reproductive guidance for this family.

【Objective】 To research the genetic polymorphism of HPA 1-6/10/15/21 in platelet donors in Zhongshan area, and establish a gene bank of platelet donors with HPA locus. 【Methods】 The HPA 1-6/10/15/21 system genotyping was performed by Real time fluorescent PCR combined with TaqMan probe technology on 192 platelet donors in Zhongshan area, and the genotype frequency and gene frequency were calculated. 【Results】 Only HPA-aa genotype was found within HPA-4/10, and no allele HPA-b had been detected. The majority of HPA-1, 2, 5, 6 and 21 genotypes were aa. HPA-3 and HPA-15 showed high heterozygosity, with genotype frequency of 0.307 3, 0.494 8 and 0.197 9 for HPA- 3aa, HPA-3ab and HPA-3bb, while 0.270 8, 0.505 2 and, 0.224 0 for HPA -15aa, HPA-15ab and HPA-15bb, respectively. 【Conclusion】 The distribution characteristics of HPA 1-6 /10/15/21 of platelet donors in Zhongshan shows regional differences compared with similar researches from other regions. The establishment of HPA gene bank is helpful to avoid alloimmunization caused by incompatible platelet transfusion.

Objective:To compare the role and efficacy of serum Helicobacter pylori ( HP) antibody combined with pepsinogen (PG) (ABC method), serum PG combined with gastrin-17 (G-17) (new ABC method) and a new gastric cancer screening scoring system for early gastric cancer screening in healthy people. Methods:Serological examinations were performed on healthy people who underwent physical examination and gastroscopy at the Physical Examination Center of Shanghai Songjiang District Central Hospital from January 2019 to December 2021. The population were divided into low-risk population, medium-risk population and high-risk population based on the above three primary screening methods for gastric cancer. Using gastroscopy and biopsy pathology as the gold standard, the ratio of each risk stratification and the detection rate of gastric cancer of the three screening methods were calculated. Advantages and disadvantages of the three methods were evaluated.Results:A total of 3 199 people who completed physical examination and gastroscopy were included in the study. Ten cases (0.31%) of esophageal cancer were detected by endoscopy, all of whom were early esophageal cancer. Thirty-seven cases (1.16%) of gastric cancer were detected,and the detection rate of early gastric cancer was 86.49%(32/37). The three gastric cancer screening methods were used to evaluate the risk of gastric cancer. According to ABC method, there were 1 853 cases (7.92%) in the low-risk group, 1 339 cases (41.86%) in the medium-risk group, and 7 cases (0.22%) in the high-risk group. The detection rates of gastric cancer were 0.97% (18/1 853), 1.42% (19/1 339), and 0.00%, respectively. According to the new ABC method, there were 2 362 cases (73.84%) in the low-risk group, 804 cases (25.13%) in the medium-risk group, and 33 cases (1.03%) in the high-risk group. The detection rates of gastric cancer were 1.14% (27/2 362), 1.24% (10/804), and 0.00%, respectively. According to the new gastric cancer screening scoring system, there were 1 448 cases (45.26%) in the low-risk group, 1 213 cases (37.92%) in the medium-risk group and 538 cases (16.82%) in the high-risk group. The detection rates of gastric cancer were 0.28% (4/1 448), 1.32% (16/1 213) and 3.16% (17/538), respectively. The detection rate of gastric cancer in the medium- and high-risk groups in total was significantly higher than that in the low-risk group with significant difference ( χ 2=17.935, P<0.001). The ROC curve showed that the AUC of the ABC method, the new ABC method and the new gastric cancer screening scoring system were 0.546, 0.503 and 0.760, respectively. The AUC of the new gastric cancer screening scoring system was significantly higher than those of the ABC method and the new ABC method, and the differences were statistically significant ( P<0.001). Conclusion:The detection rate of gastric cancer in the medium- and high-risk groups of the new gastric cancer screening scoring system is higher than that of the low-risk group, and the missed diagnosis rate of the new gastric cancer screening scoring system is lower than those of the ABC method and the new ABC method. The screening score is of high value for early gastric cancer screening in the healthy population.

OBJECTIVE: To identify the pathogenic variants from a patient with suspected congenital contractural arachnodactyly, and to explore the possible molecular genetic pathogenesis, so as to provide evidence for clinical diagnosis. METHODS: Whole exome sequencing was performed for the patient. The splicing site variation of candidate pathogenic genes was verified by Sanger sequencing, and the new transcript sequence was determined by RT-PCR and TA-cloning sequencing. RESULTS: The patient carried a heterozygous c.533-1G>C variant of FBN2 gene, which was not reported. The sequencing of mRNA showed that the variant leaded to the disappearance of the canonical splice acceptor site of FBN2 gene and the activation of a cryptic splice acceptor site at c.533-71, resulting in the insertion of 70 bp sequence in the new transcript. It was speculated that the polypeptide encoded by the new transcript changed from valine (Val) to serine (Ser) at amino acid 179, and prematurely terminated after 26 aminoacids. According to the guidelines of American College of Medical Genetics and Genomics, the variant of FBN2 gene c. 533-1G>C was determined as pathogenic (PVS1+PM2+PP3 ). CONCLUSION A novel splicing variant of FBN2 gene (c.533-1G>C) was identified, which can lead to congenital contractural arachnodactyly.
Arachnodactyly/genetics* ; Contracture/genetics* ; Fibrillin-2/genetics* ; Humans ; Mutation ; RNA Splice Sites ; Whole Exome Sequencing

Objective:To analyze the prognostic factors and evaluate the accuracy of existing survival prediction models in patients with lung cancer-derived spinal metastases who have undergone open surgery.Methods:According to the inclusion criteria, the data of 76 patients with spinal metastasis of lung cancer who underwent open surgery in the department of Orthopedics in Guangdong Provincial People's Hospital were collected from January 2019 to November 2021. The relationship between the number of bone metastasis, pathological type, visceral metastasis, epidermal growth factor receptor mutation, serum alkaline phosphatase (ALP), hemoglobin (Hb), Frankel grade and postoperative survival time in 76 cases was analyzed by Cox logical regression analysis and Kaplan-Meier method to determine the potential prognostic factors. The accuracy of Tomita score, Tokuhashi revised score, Katagiri New score, New England Spinal Metastasis Score score (NESMS) and Skeletal Oncology Research Group (SORG) machine learning algorithm in predicting postoperative survival time was verified by drawing receiver operating characteristic (ROC) curve.Results:The median follow-up time of the patients was 18.0 months (2.3-36.0 months). The median survival time was 12.6 months [95% CI (10.8, 14.4)]. The survival rates at 6 and 12 months after operation were 71.6% and 52.0%, respectively. Multivariate regression analysis showed that ALP [ HR=0.23, 95% CI (0.11, 0.48), P<0.001], Hb [ HR=4.48, 95% CI (2.07, 9.70), P< 0.001] and EGFR mutation [ HR=2.22, 95% CI (1.04, 4.76), P=0.040] were independent predictors of prognosis. The accuracy of Tomita score, Tokuhashi revised score (2005), Katagiri New score and NESMS score in predicting 1-year mortality was 58.7%, 65.7%, 70.5% and 65% respectively, and the accuracy in predicting 6-month mortality was 63.7%, 62.2%, 61.2% and 56.8% respectively. The accuracy of SORG machine learning algorithm in predicting 1-year and 90 d mortality was 81.1%, 67.5%, respectively. Conclusion:No EGFR mutation, ALP>164 U/L and Hb≤125 g/L were risk factors affecting the survival of patients with spinal metastasis of lung cancer. SORG machine learning algorithm has good accuracy in predicting the postoperative survival rate of patients with lung cancer spinal metastasis.

Objective:To explore the effects of video teaching combined with scenario simulation teaching on the maintenance skills of peripherally inserted central venous catheter (PICC) in nursing interns.Methods:A total of 70 nursing interns from June 2019 to March 2020 in our hospital were selected and randomly divided into study group and control group, with 35 cases in each group. The control group was given scenario simulation teaching, and the research group was given scenario simulation combined with video teaching. The evaluation of interns in the two groups on the teaching mode (expanding learning ideas, and improving learning initiative, communication ability, learning efficiency and operation ability), PICC catheter maintenance assessment results (theoretical scores, operational scores and comprehensive scores) and teaching satisfaction were compared between the two groups. SPSS 19.0 was used for t test and chi-square test. Results:The evaluation of the teaching mode in the research group was significantly better than that in the control group in terms of expanding learning ideas and improving learning initiative, communication ability, learning efficiency and operation ability ( P<0.05); the theoretical scores, operational scores and comprehensive scores were significantly higher than those in the control group ( P<0.05); teaching satisfaction of the research group (91.43%) was significantly higher than that (68.57%) of the control group ( P<0.05). Conclusion:Video teaching combined with scenario simulation teaching in PICC maintenance skills training of nursing interns can effectively expand learning ideas and improve learning initiative, communication ability, learning efficiency, operation ability, examination results and teaching satisfaction.

Objective:To investigate the pathogenesis of Cushing′s syndrome induced by medullary thyroid carcinoma.Methods:Started from April 2011 to present, three medullary thyroid carcinoma patients with Cushing′s syndrome were enrolled in this study. All patients were 40 to 50 years old, one female and two males. The blood pressure, blood glucose, thyroid function and antibodies, calcitonin, and carcinoembryonic antigen(CEA)were detected. The qualitative and localized diagnosis of Cushing′s syndrome was performed by high- and low-dose dexamethasone suppression tests as well as imaging examinations. The biopsies of all patients were taken to test the immunostaining of calcitonin, adrenocorticotropin(ACTH), and corticotropin-releasing hormone(CRH).Results:According to the clinical manifestation and function tests, three patients were diagnosed as medullary thyroid carcinoma accompanied by ACTH-dependent Cushing′s syndrome. All patients showed positive immunohistochemical staining of calcitonin and CRH, with negative immunostaining of ACTH in one and positive immunostaining of ACTH in two patients. Therefore, the diagnosis of ectopic CRH syndrome caused by medullary thyroid carcinoma was definite.Conclusions:Medullary thyroid carcinoma is a rare cause of Cushing′s syndrome. Tumor cells secrete ACTH and CRH, which in turn cause hypercorticoremia. Ectopic CRH syndrome is very rare. Early diagnosis can be made by immunohistochemical staining of biopsy tissues to guide early targeted treatment and improve the prognosis.

Objective:To explore the efficiency of a new scoring system of gastric cancer screening for early gastric cancer in health examination population.Methods:The risk score of gastric cancer was assessed based on the new scoring system in health examination population. A notice for further gastroscopy was sent to the medium-risk and high-risk people. Gastroscopy was performed on those who agreed to undergo the examination.Results:From January to April 2019, a total of 5 357 people in health system visited the Physical Examination Center of Shanghai Songjiang Clinical Medical College of Nanjing Medical University for health examination. Seven hundred and forty people were classified as medium- and high-risk groups by the new screening system, 576 in medium-risk group, and 164 in high-risk group. Among them, 131 cases (17.70%) came for further gastroscopy, of whom 91 (69.47%) were in the medium-risk group and 40 (30.53%) in the high-risk group. After gastroscopy, 4 cases of gastric cancer and 1 case of esophageal cancer were detected, and both were early cancer. In the medium-risk group, 2 cases (2/91, 2.20%) of early gastric cancer and 1 case (1/91, 1.10%) of early esophageal cancer were found. In the high-risk group, 2 cases (2/40, 5.00%)of early gastric cancer were found. The tumor detection rate of high-risk group (5.00%) was higher than that of medium-risk group (3.30%), but there was no significant difference ( P>0.05). Conclusion:Risk stratification with the new scoring system of gastric cancer screening can improve the detection rate of early gastric cancer.

MicroRNA-125b (miR-125b) has been proved to be closely related to a variety of cancers in recent years, such as lung cancer, digestive system cancers, blood cancers, etc. miR-125b plays a key role in the occurrence and development of cancers, which can evaluate the therapeutic effects of various treatment methods of cancers by detecting the expression of miR-125b, and can assist in the diagnosis of cancers. It is of great significance to explore the mechanism of miR-125b in cancers for the treatment.