Summarize the nursing experience of 9 children with X-linked agammaglobulinemia who were first treated with subcutaneous infusion of human immunoglobulin in mainland China. Nursing points: there is no precedent in mainland China for high-dose subcutaneous infusion of human immunoglobulin, therefore, it is necessary to make sufficient preparation and care before infusion, pay attention to the observation and care of drug infusion, provide guidance on home medication, pay attention to psychological care, and ensure that patients smoothly transition from hospital medication to home medication. All 9 patients successfully completed subcutaneous injection of human immunoglobulin treatment, ensure smooth transition of patients from hospital medication to home medication. and no serious adverse reactions occurred, resulting in good results.

国家自然科学基金项目(11932012、81400536),上海申康医院发展中心临床创新三年行动计划(SHDC2020CR3009A),上海交通大学医工(理)交叉基金(JYJC202130)

Objective:To evaluate the feasibility of Full-stack Smart Pelvic Floor Ultrasound (FSPFU) software in the acquisition and measurement of the minimal levator hiatus (LH).Methods:Transperineal pelvic floor ultrasonography was performed in 119 women of 6-month postpartum from Nov.2020 to Jan.2021 of Shenzhen Second People′s Hospital. Mid-sagittal plane of pelvic floor was set as the initial plane, and the three-dimensional volume data was acquired. The dataset was stored in the machine. The offline volume data was manually adjusted to obtain the minimal LH images and measured by four physicians (two junior physicians as the D1 group and two senior physicians as the D2 group). For comparison, the results were also obtained using the fully automated method—the FSPFU software by a junior physician (the D3 group). The obtained parameters of minimal LH included area, circumference, anterioposterior diameter, transverse diameter, left and right levator-urethral gap distance. Analysis time was recorded for each group. The contours of minimal LH were outlined by three groups and the overlapping rate was calculated. The quality of the resulted images was evaluated and scored by another two senior physicians(A and B) independently.Results:The D3 group had a significant shorter analysis time compared with the other two groups, and the D1 group took a longer time than the D2 group, regardless of the cystocele severity (D1: 82.97 s, D2: 62.51 s, D3: 2.71 s, all P<0.05). The intergroup agreements and correlations of the minimum LH area were good (all ICC>0.85, rs>0.70, P<0.001) and the outlined contours were largely overlapped (>92%). There was no significant difference in image quality among the three groups(all P>0.05). Conclusions:FSPFU software can automatically obtain and measure the minimum LH in an efficient and accurate way, which can improve the effectiveness of the present pelvic floor examination. FSPFU software can be an useful tool in the diagnosis of pelvic floor dysfunctional diseases.

【Objective】 To investigate the clinical features and gene analysis of one pedigree with multiple endocrine neoplasia type 2A （MEN2A） so as to clarify the diagnosis and classification of the disease， guide treatment and prevention， and improve prognosis. 【Methods】 The clinical data of a 36-member MEN2A family， including 6 probands， with medullary thyroid carcinoma， were investigated， and the peripheral blood genomic DNA of 28 family members （blood sample of one proband was not collected） was extracted. PCR amplification was performed on exons 8， 10， 11， 13， 14， 15 and 16 of the RET gene， and the products were directly sequenced. 【Results】 Review of the medical history showed that two probands with medullary thyroid carcinoma were accompanied with hyperparathyroidism， and one family member had pheochromocytoma. The RET gene mutation test confirmed that 13 family members， consisting of 5 probands and 8 family members， had the RET proto-oncogene exon 10 missense mutation. The heterozygous missense had mutation c.1852T>A， leading to the conversion of cysteine （TGC） at position 618 to serine （AGC） （Cys618Ser）. All subjects carrying RET gene Cys618Ser mutation had abnormal thyroid ultrasound change， accompanied with elevated calcitonin levels. Subjects carrying wild type of RET gene had normal calcitonin levels. The family was finally diagnosed with MEN2A by RET gene detection. 【Conclusion】 RET gene detection plays key role in the diagnosis and treatment of patients with MEN2A family and has guiding value in the follow-up and prognosis of asymptomatic carriers. There is a positive correlation between calcitonin level and the RET protooncogene mutation Cys618Ser. Patients suspected of MEN2A should be screened in time.

Objective:To investigate the prognostic significance of D-dimer level in patients with diffuse large B-cell lymphoma (DLBCL).Methods:The clinical data of 70 newly diagnosed DLBCL patients who were admitted to Tianjin People's Hospital from January 2015 to June 2019 were retrospectively analyzed. The optimal cut-off value of D-dimer for survival was determined according to the receiver operating characteristic (ROC) curve, and the patients were grouped. The differences of coagulation related indexes and clinicopathological features between patients with different D-dimer levels were compared. Kaplan-Meier method was used for univariate analysis of overall survival (OS), and Cox regression model was used for multivariate analysis of OS.Results:According to ROC curve, the best cut-off value of D-dimer for survival was 0.75 mg/L. The proportion of patients with different clinical staging, international prognostic index score, lactate dehydrogenase level had statistically significant differences between the D-dimer ≥0.75 mg/L group (36 cases) and <0.75 mg/L group (34 cases) (all P < 0.05). The prothrombin time of D-dimer ≥ 0.75 mg/L group and < 0.75 mg/L group were (13.5±0.9) s and (13.0±0.8) s, respectively, and the activated partial thromboplastin time were (37±5) s and (34±6) s, respectively,and the differences were statistically significant (all P < 0.05). Univariate analysis showed that the 5-year OS rates of DLBCL patients with Ann Arbor stage Ⅲ-Ⅳ, international prognostic index score > 2, lactate dehydrogenase level > 240 U/L, B symptoms, D-dimer level ≥0.75 mg/L were decreased (all P < 0.05). Multivariate Cox regression analysis showed that D-dimer ≥0.75 mg/L was an independent risk factor for OS of DLBCL patients ( HR=0.368, 95% CI 0.144-0.944, P= 0.038). Conclusion:The level of D-dimer can be used as a clinical indicator to judge the prognosis of DLBCL patients, and the prognosis of patients with high D-dimer level is poor.

Objective:To explore the key genes and its biological functions of aldosterone producing adenoma (APA) using bioinformatics analysis.Methods:Differentially expressed genes of APA were identified from two training datasets GSE60042 and GSE64957 in GEO database. Function and pathway enrichment analyses for differentially expressed genes were performed and transcriptional regulation network among these genes were determined. Hub genes were extracted by node analysis from the protein-protein interaction (PPI) network. The expression of key genes was verified by a testing dataset GSE8514. Receiver operating characteristic(ROC) curve analysis was applied to assess the diagnostic efficiency of key genes in APA. The biofunction of each key gene were determined by gene set enrichment analysis (GSEA).Results:A total of 68 differentially expressed genes, including 33 up-regulated genes and 35 down-regulated genes, were detected from the training datasets. These genes were mainly enriched in aldosterone biosynthetic process, calcium signaling pathway, serotonin receptor signaling pathway, transcriptional activator activity, and regulation of transcription. JUN and VDR were at the center of the transcriptional factor-gene network. Furthermore, we identified nine Hub genes from the PPI network. In testing dataset, CYP11B2 and VDR showed the higher expression, while JUN, NFKBIZ, EGR3, and KLF6 showed lower expression in APA (all P<0.05), and the value of area under ROC curve analysis was 0.936, 0.833, 0.953, 0.854, 0.868, and 0.929, respectively. GSEA indicated the alter of key genes in APA led to up-regulation of the steroid biosynthesis, cell adhesion molecules, immune cells signaling pathway, and complement and coagulation cascades [all normalized enrichment score (NES)>1.5, P<0.05], but down-regulation of the DNA replication, ribosome, and autophagy (all NES<-1.5, P<0.05). Conclusion:Results of bioinformatics indicate that JUN and VDR are key transcriptional factors, and CYP11B2, NFKBIZ, EGR3, and KLF6 are the key genes for APA, which are involved in the steroid biosynthesis, cell adhesion molecules, immune cells signaling pathway in APA.

Objective:To construct an out-of-hospital health management content system for children with type 1 diabetes (T1DM) to provide a basis for clinical nursing staff to carry out targeted health education and evaluation.Methods:A research group was established in April 2019. Guided by mobile health, the first draft of out-of-hospital health management system for children with T1DM was constructed through literature review, semi-structured interviews and expert meetings. A total of 20 experts were selected from pediatric wards of 11 Class Ⅲ Grade A children's specialties or general hospitals in Beijing, Shanghai, Henan Province, Zhejiang Province and other provinces, and the Delphi method was applied for 2 rounds of consultation. The out-of-hospital health management content system for T1DM children based on mobile health was constructed and revised to form the final draft.Results:After 2 rounds of expert consultation, the opinions of 20 experts reached consensus. The recovery rates of the 2 rounds of expert consultation questionnaire were both 100.0%, the expert familiarity was 0.96, the expert judgment basis was 0.98 and the authority coefficient was 0.97. Finally, out-of-hospital health management content system for T1DM children consisted of 6 first-level indicators, 14 second-level indicators and 69 third-level indicators.Conclusions:The out-of-hospital health management content system for T1DM children in this study is scientific and comprehensive, which can provide theoretical references and unified standards for clinical nurses to conduct out-of-hospital health management and evaluation effect based on mobile health.

Objective: To investigate the prognostic value of prognostic nutritional index (PNI) in patients with diffuse large B-cell lym-phoma (DLBCL). Methods: We retrospectively reviewed the medical records of 82 patients with DLBCL treated at Tianjin Union Medi-cal Center between June 2010 and June 2016. The optimal cutoff value of PNI was determined using a receiver operating characteristic (ROC) curve and the Youden index. The relationship of high and low PNI with the clinical characteristics of the patients, therapeutic ef-ficacy, and prognosis were analyzed. Results: Overall, mean PNI of the patients was 46.17±8.8. When the PNI was 44.15, the Youden in-dex was found to be maximal, with a sensitivity of 74.6% and specificity of 67.2%. There were 38 patients (46.3%) in the low PNI group (<44.15) and 44 patients (53.7%) in the high PNI group (≥44.15). Data analysis showed that PNI was correlated with Eastern Coopera-tive Oncology Group performance status (ECOG PS), Ann Arbor stage, international prognostic index (IPI) score, and lactic acid dehydro-genase (LDH) level (P<0.05). The total effective rate of the low PNI group was significantly lower than that of the high PNI group (65.8% vs. 86.4%; χ2=4.848; P=0.028). The 3-year overall survival (OS) rate of the entire group of patients was 69.1%. The 1-, 2-, and 3-year OS rates of the low PNI group (86.8%, 67.8%, and 56.9%, respectively) were significantly lower than that of the high PNI group (96.7%, 89.5%, and 80.2%, respectively; χ2=9.421, P=0.002). Univariate analysis showed that PNI<44.15, ECOG PS≥2, IPI>2, stageⅢ/Ⅳ, and lymphocyte count<1.0×109/L had a significant impact on predicting OS (P<0.05). Multivariate analysis showed that PNI<44.15 (P=0.006) and stageⅢ/Ⅳ(P=0.011) were independent factors for predicting OS. Conclusions: PNI might be used as a simple and feasible clinical prognostic indicator in patients with DLBCL.

Objective To investigate in children with type 1 diabetes mellitus and provide evidence for nursing education. Methods From January to December 2016, 450 patients with T1DM were enrolled in this research,all of them were outpatients of diabetes clinic of Beijing Children′s Hospital Affiliated to Capital Medical University. The clinical data of the patients were collected through questionnaires and physical examinations to assess the insulin treatment and related factors. Results Among 450 patients, 221 were males and 229 were females, aged 9.40 (0.83-17.97) years old; body mass index was 17.43 (12.81-28.22) kg/m2; course of disease was 2.32 (0.05-12.89) years; daily insulin dosage was 0.66 (0.11-1.78) IU·kg-1·d-1; glycosylated hemoglobin (HbA1c) was 7.54 (4.4-14.9)%, of which HbA1c<7.5% accounted for 55.8%(251/450). 7.5%-9.0% accounted for 30.0(135/450)% , and >9.0% accounted for 14.2% (64/450). 44.9% ,47.1% ,8.0% (202, 212,36 cases) patients were treated respectively with routine treatment, multiple daily injection or continuous subcutaneous insulin infusion. There was no significant difference in HbA1c between patients with different insulin regimens (P>0.05), but there were significant differences in age, course of disease, body mass index and insulin dosage (P< 0.05). Conclusion Because children with type 1 diabetes have different physiological and psychological characteristics in different stages, the content of health education should be adjusted according to the patient's condition.

Objective: To understand the mechanism of chemotherapy resistance in nasopharyngeal carcinoma under hypoxic conditions through the perspective of protein SUMOylation modification. Methods: Cobalt chloride (CoCl₂) was used to establish the hypoxic model of human nasopharyngeal carcinoma CNE1 cells. Then, the cell cycle was detected by flow cytometry, and the expression level of small ubiquitin-related modifier(SUMO) and cyclin-dependent kinase 6 (CDK6) proteins were detected by western blotting. MTT assay was used to determine the median lethal dose (IC₅₀) of cancer cells against cisplatin, and enzyme-linked immunosorbent assay (ELISA) was used to determine lactate dehydrogenase (LDH) level. Results: The cell cycle of CNE1 induced by hypoxia was arrested in G0/G1 phase.The results of Western blot showed that the protein expression level of CDK6 in CNE1 cells was lower than that in the control group (0.83±0.25 vs. 0.43±0.21, t=14.67, P=0.003). The protein level of conjugated SUMO1 was significantly lower than that in the control group (2.69±0.48 vs. 1.38±0.31, t=17.22, P=0.001), while the level of free SUMO1 protein was significantly higher than that in the control group (2.01±0.43 vs. 2.60±0.59, t=15.45, P=0.002).The LC50 of CNE1 cells in the control group was significantly lower than that in the hypoxic group (29.44 μg/ml vs. 97.72 μg/ml, t=12.79, P=0.001). After CNE1 cells received 50 μg/ml cisplatin for 48 h, the LDH content in the supernatant of the control group was significantly higher than that in the hypoxic group ((541.49±64.59) ng/ml vs. (234.67±41.03) ng/ml, t=11.94, P=0.007)). The apoptosis rate of CNE1 cells in the control group was significantly higher than that in the hypoxic group ((76.64±5.37)% vs. (32.84±4.77) ng/ml, t=8.49, P=0.003)). Conclusion Hypoxia can dissociate the covalent modification of CDK6 and SUMO1, inhibit cell cycle and increase the chemotherapy resistance of nasopharyngeal carcinoma.