Objective:To obtain skin-derived induced pluripotent stem cells (iPSCs) from an Osteogenesis imperfecta (OI) patient carrying WNT1c.677C>T mutation in order to provide a new cell model for investigating the underlying molecular mechanism and stem cell therapy for OI. Methods:The pathogenic variant of the patient was identified by Sanger sequencing. With informed consent from the patient, skin tissue was biopsied, and primary skin fibroblasts were cultured. Skin fibroblasts were induced into iPSCs using Sendai virus-mediated non-genomic integration reprogramming method. The iPSC cell lines were characterized for pluripotency, differentiation capacity, and karyotyping assay.Results:The patient was found to carry homozygous missense c. 677C>T (p.Ser226Leu) mutation of the WNT1 gene. The established iPSC lines possessed self-renewal and capacity for in vitro differentiation. It also has a diploid karyotype (46, XX). Conclusion:A patient-specific WNT1 gene mutation ( WNT1c.677C>T) iPSC line was established, which can provide a cell model for the study of OI caused by the mutation.

Objective:To investigate the clinical value of Tyro3/Axl/Mertk (TAM) receptor tyrosine kinase and ligands in severity evaluation for acute pancreatitis (AP).Methods:The peripheral blood and clinical data of 27 patients with AP admitted in the Department of Gastroenterology of Shanghai General Hospital from February 2020 to July 2022 were prospectively selected. The patients were divided in to mild AP group (MAP, n=13), moderately severe AP (MSAP, n=10) and severe AP group (SAP, n=4) according to the 2012-revised Atlanta classification for AP. Another 10 healthy normal subjects were selected as the control group. The general information, biochemical indicators and blood cell analysis of the patients were recorded, and the levels of serum Gas6, protein S and soluble Axl (sAxl) were measured by ELISA. Linear regression equations were used to analyze the correlation of serum Gas6, protein S and sAxl levels with the white blood cell (WBC) counts, neutrophil percentages, lymphocyte percentages, and monocyte percentages of each group, and to assess the clinical value of Gas6, protein S and sAxl in predicting the severity of AP patients. Results:Compared with the control group, the serum Gas6 level [(31.3±13.0)ng/ml vs (21.2±2.6)ng/ml], protein S level [(24.4±11.3)μg/ml vs (17.7±3.4)μg/ml], and sAxl level [(9.0±4.4)ng/ml vs (6.6±1.3)ng/ml] were significantly higher in the AP group. The Gas6 level was significantly higher in the SAP group (54.1±13.7 ng/ml) than in the MAP group (31.0±9.4 ng/ml) and the MSAP group (25.2±8.9 ng/ml), and the differences were statistically significant (all P value <0.05). The Gas6 level was significantly positively correlated with the WBC count ( r=0.1733) and neutrophils percentage ( r=0.4424), and negatively correlated with lymphocyte percentage(r=-0.363), with statistically significant differences (all P value <0.05). The levels of protein S and sAXL were positively correlated WBC count and neutrophil percentage, and negatively correlated with monocyte percentage and lymphocyte percentage, but the differences were not statistically significant. Conclusions:The serum levels of Gas6 increase significantly with the severity grading of AP, which may serve as a relatively good predictor for the early severity assessment of AP.

In recent years,with the development of gene testing and new drug research,the diagnosis and treatment of inherited diseases have made rapid progress,corresponding to higher requirements for genetics education.As a teacher of medical genetics,the author joined the course remodeling during last 10 years from a web-based study of genetic disorders to a"case-based learning"supported by flipped classroom in order to optimize teaching effects and learning outcomes.The result of this remodeling project proposes a new strategy to guide perspectives course de-sign in future.

Evaluating the visual-related quality of life of patients undergoing refractive correction can help understand the treatment outcomes and reduce the adverse effects caused by refractive errors. This paper summarizes the assessment tools for visual-related quality of life in refractive correction patients, introduces the content and characteristics, analyzes and compares the application status and limitations, aiming to provide reference for medical and nursing staff in China to choose, develop, and apply suitable assessment tools.

Objective:To explore the current situation of nursing human caring in hospital wards and analyze its influencing factors, so as to facilitate the development of nursing human caring practice.Methods:From July to November 2022, a total of 107 hospitals were surveyed through stratified convenience sampling method, and 4 072 ward nursing managers were recruited to finish the general information questionnaire and the ward nursing human caring status questionnaire. The general information included the region, class and type of the hospital, etc. The ward nursing human caring status questionnaire included 38 items in 5 dimensions of nursing human caring system and process, humanistic quality and training of nursing staff, humanistic environment and facilities, human caring procedures and measures, and human caring quality evaluation and improvement, with a full score of 190 points. Descriptive statistics were used to analyze the general data, independent samples t-test, ANOVA and correlation analysis were used to analyze the factors influencing the current status of nursing human caring in the ward, while multiple linear regression analysis was used to conduct a multivariate analysis. Results:The score of nursing human caring in hospital wards was 156.91±27.78. Whether the hospital had carried out nursing human caring pilot(demonstration) wards, whether the ward had previously been a hospital nursing human caring pilot(demonstration) nursing unit, the type of ward, and whether nursing managers had participated in human caring training were the influencing factors of the implication of nursing humanistic caring in wards( P<0.05). Conclusions:The practice of nursing human caring in hospital wards is at a good level, but needs to be further strengthened. Nursing managers should take systematically strategies to promote the development of nursing human caring practice.

Objective:To summarize the diagnosis and treatment process of abdominal involvement in 229 children with IgA vasculitis and to provide reference for clinic treatment.Methods:A total of 229 pediatric patients, diagnosed as IgA vasculitis with abdominal involvement admitted to the Department of Pediatric Nephrology of Shengjing Hospital, China Medical University from January 1st 2018 to December 31st 2019, were retrospectively analyzed in the study and were divided into three groups according to Numerical Rating Scale to compare indexes in different degrees of abdominal pain.Results:The duration of hospitalization was related with degree of abdominal pain, as the more severe the abdominal pain was, the longer the hospitalization time was( P<0.001). The incidence of bloody stool were also proportionate to the degree of abdominal pain( P<0.001). With the aggravation of abdominal pain, the proportion of intestinal wall edema increased, as the highest proportion was severe group( P<0.001). The proportion of renal involvement in severe group was significantly higher than that in non-severe group( P<0.001). Twenty cases of intestinal wall edema with decreasing of albumin were treated by intravenous hormone therapy after albumin infusion as the results of no intestinal complications occurred.Compared with the mild and moderate groups, the white blood cells of the severe group were higher( P<0.001)and the albumin was lower( P<0.05). It was no significant difference in hemoglobin, serum amylase and serum lipase among three groups.The mean value of CRP had no difference among three groups and was higher than that of normal.Interleukin(IL)-6 in severe group was higher than that in other two groups( P<0.05), but there was no significant difference in IL-2, IL-4, IL-10, IL-17 and tumor necrosis factor.In terms of treatment, 40 cases were treated with immunoglobulin and four cases with hemoperfusion.The average duration of intravenous glucocorticoid application was related to the degree of abdominal pain among three groups.The longest duration was severe group(16.00±6.91)d and the shortest one was mild group(6.71±3.75)d. Conclusion:Pediatric patients diagnosed as IgA vasculitis with severe abdominal pain whose part of inflammatory indexes increased and albumin decreased obviously should complete imaging examinations to evaluate the extent of intestinal wall edema.If diagnosed as hypoalbuminemia and intestinal wall edema distinctly, hormone therapy should be given after albumin infusion to prevent severe complications such as intestinal perforation.For pediatric patients of IgA vasculitis with severe abdominal symptoms, on the basis of hormone therapy, immunoglobulin and hemoperfusion could be used to quickly remove abnormal immune substances to slow down the disease.

Objective: To analyze the epidemiological history, clinical manifestations, treatment and the short-term prognosis of 31 cases of 2019 novel coronavirus(2019-nCoV) infection in children from six provinces (autonomous region) in northern China. Methods: A retrospective analysis of the epidemiological history, clinical symptoms, signs, laboratory examinations, chest imaging, treatment and the short-term prognosis of 31 cases of 2019-nCoV was conducted. The patients were diagnosed between January 25th, 2020 and February 21st, 2020 in 21 hospitals in 17 cities of six provinces(autonomous region) of Shaanxi, Gansu, Ningxia, Hebei, Henan and Shandong. Results: The age of the 31 children with 2019-nCoV infection was 7 years and 1 month (6 months -17 years). Nine cases (29%) were imported cases. Other 21 cases (68%) had contact with confirmed infected adults. One case (3%) had contact with asymptomatic returnees from Wuhan. Among the 31 children, 28 patients (90%) were family cluster cases. The clinical types were asymptomatic type in 4 cases (13%), mild type in 13 cases (42%), and common type in 14 cases (45%). No severe or critical type existed. The most common symptom was fever (n=20, 65%), including 1 case of high fever, 9 cases of moderate fever, 10 cases of low fever. Fever lasted from 1 day to 9 days. The fever of fifteen cases lasted for ≤3 d, while in other 5 cases lasted > 3 d. Other symptoms included cough (n=14, 45%), fatigue (n=3, 10%) and diarrhea (n=3, 9%). Pharyngalgia, runny nose, dizziness, headache and vomiting were rare. In the early stage, the total leukocytes count in peripheral blood decreased in 2 cases (6%), the lymphocytes count decreased in 2 cases (6%), and the platelet count increased in 2 cases (6%).Elevation of C-reactive protein (10%, 3/30), erythrocyte sedimentation rate(19%,4/21), procalcitonin(4%,1/28), liver enzyme(22%, 6/27) and muscle enzyme (15%, 4/27) occurred in different proportions. Renal function and blood glucose were normal. There were abnormal chest CT changes in 14 cases, including 9 cases with patchy ground glass opacities and nodules, mostly located in the lower lobe of both lungs near the pleural area. After receiving supportive treatment, the viral nucleic acid turned negative in 25 cases within 7-23 days. Among them, 24 children (77%) recovered and were discharged from hospital. No death occurred. Conclusions In this case series, 2019-nCoV infections in children from six provinces (autonomous region) in northern China are mainly caused by close family contact. Clinical types are asymptomatic, mild and common types. Clinical manifestations and laboratory examination results are nonspecific. Close contact history of epidemiology, nucleic acid detection and chest imaging are important bases for diagnosis. After general treatment, the short-term prognosis is good.

Nephrotic syndrome is a common glomerular disease in childhood and easy to recur.It has been found that children with nephrotic syndrome are often accompanied by atopic manifestations and there is high co-morbidity between nephrotic syndrome and atopic diseases.This article reviewed the pathogenesis, cytokines and treatment of nephrotic syndrome and atopic diseases in children to explore the similarity between them to provide new clues and methods for the treatment of nephrotic syndrome in children.

Objective To investigate the dynamic changes of neutrophil gelatinase-associated lipoca-lin(NGAL) and kidney injury molecule 1(KIM-1) in children after contrast media administration and evalu-ate the effect of hydration therapy. Methods A total of 58 patients with urinary system diseases who were admitted to Shengjing Hospital of China Medical University from March 2012 to March 2014 for intravenous pyelography(IVP) in pediatric department were enrolled. The 58 patients were randomly divided into hydra-tion group of 28 patients and non-hydration group of 30 patients. Contemporaneous 24 patients received respiratory system enhanced CT examination without urinary tract diseases and hydration were enrolled as control group. Urine NGAL and KIM-1 of the three groups at 0 h,24 h,48 h,72 h,96 h after using intravenous contrast media were detected by ELISA. Serum creatinine of the three groups at 0 h,48 h,96 h after using intravenous contrast media were detected. Results All of the 82 subjects in this study didn′t occur contrast- induced acute kidney injury. The urinary NGAL of non-hydrated group significantly increased at 24 h and 48 h after contrast media administration ( P < 0. 05 ) and the urinary NGAL of hydrated group significantly increased at 48 h and 72 h(P<0. 05). But the urinary NGAL at 24 h and 48 h of the hydration group were lower than these of the non-hydrated group,there were statistically significant differences(P<0. 05). At 24 h,48 h and 72 h after contrast media administration,the level of urine KIM-1 in the non-hydration group sig-nificantly increased(P<0. 05). Urine KIM-1 at 48 h and 72 h in the hydration group significantly increased (P<0. 05). But the urine KIM-1 at 24 h,48 h and 72 h of the hydration group were lower than these of the non-hydration group,the differences were statistically significant(P<0. 05). Comparison of urine NGAL and KIM-1 at different times before and after contrast media administration in children receiving enhanced CT examination who without urinary tract disease showed no statistically significant differences ( P >0. 05 ). Conclusion The urine NGAL and KIM-1 of children with urinary system diseases increase after contrast media administration and there is a trend of spontaneous recovery. Hydration intervention can alleviate the up-ward trend of urine NGAL and KIM-1. For children receiving enhanced CT examination but without urinary system diseases,the change of urine NGAL and KIM-1 are not significant.

This paper summarized the studies of survey of traditional Chinese medicine syndrome among the patients with H.pylori positive gastritis and the progress of pharmacological studies and clinical trials of traditional chinese medicine against HP. The paper could help to clarify the advantages of traditional Chinese medicine in treating H.pylori positive gastritis,and lay the foundation for further studies.