OBJECTIVE: To explore the genetic basis for a child with multiple malformations. METHODS: A child who had presented at Shanxi Provincial Children's Hospital in February 2021 was selected as the study subject. Clinical data of the patient was collected, and whole exome sequencing (WES) was carried out to screen pathogenic variants associated with the phenotype. Candidate variant was validated by Sanger sequencing of her family members. RESULTS: The child had normal skin, but right ear defect, hemivertebral deformity, ventricular septal defect, arterial duct and patent foramen ovale, and separation of collecting system of the left kidney. Cranial MRI showed irregular enlargement of bilateral ventricles and widening of the distance between the cerebral cortex and temporal meninges. Genetic testing revealed that she has harbored a heterozygous variant of NM_178014.4: c.217A>G (p.Met73Val) in the TUBB gene, which was unreported previously and predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The child was diagnosed with Complex cortical dysplasia with other brain malformations 6 (CDCBM6). CONCLUSION CDCBM is a rare and serious disease with great genetic heterogeneity, and CDCBM6 caused by mutations of the TUBB gene is even rarer. Above finding has enriched the variant and phenotypic spectrum of the TUBB gene, and provided important reference for summarizing the genotype-phenotype correlation of the CDCBM6.
Humans ; Child ; Female ; Abnormalities, Multiple ; Blood Group Antigens ; Family ; Malformations of Cortical Development/genetics* ; Brain ; Mutation

BACKGROUND: Cardiovascular (CV) disease is the leading cause of morbidity and mortality in adults with type 2 diabetes (T2D). The aim of this study was to determine the CV risk in Chinese patients with T2D based on the 2019 European Society of Cardiology (ESC) and the European Association for the Study of Diabetes (EASD) guidelines on diabetes, pre-diabetes, and CV diseases. METHODS: A total of 25,411 patients with T2D, who participated in the study of China Cardiometabolic Registries 3B study, were included in our analysis. We assessed the proportions of patients in each CV risk category according to 2019 ESC/EASD guidelines. RESULTS: Based on the 2019 ESC/EASD guidelines, 16,663 (65.6%), 1895 (7.5%), and 152 (0.6%) of patients were included in "very high risk," "high risk," and "moderate risk" categories, respectively. The proportions of patients in each category varied based on age, sex, body mass index, and duration. While 58.7% (9786/16,663) of elderly patients were classified to "very high risk" group, 89.6% (3732/4165) of patients with obesity were divided into "very high risk" group. Almost all patients with a duration of diabetes >10 years had "very high risk" or "high risk." However, 6701 (26.4%) of Chinese T2D patients, who had shorter duration, and one or two risk factors, could not be included in any category (the "unclear risk" category). CONCLUSIONS In China, most patients with T2D have "very high" or "high" CV risk based on 2019 ESC/EASD guidelines. However, the risk of patients in "unclear risk" group needs to be further classified.
Adult ; Aged ; Cardiovascular Diseases/epidemiology* ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2 ; Heart Disease Risk Factors ; Humans ; Risk Factors

Objective:To identify the risk factors of catheter-related bloodstream infection in hemodialysis patients using Meta-analysis.Methods:We searched PubMed, Web of Science, Cochrane Library, Embase, CBM, CNKI and Wangfang Data to collect literature about risk factors of catheter-related bloodstream infection in hemodialysis patients. Data were analyzed by RevMan 5.3 after literature screening, data extraction, and quality appraisal according to criteria by two researchers independently.Results:Ten literatures were recruited,including 3 143 cases and 7 risk factors.According to Meta analysis, catheter indwelling time ( OR value was 2.59, 95% CI 1.18-5.68), times of intubation ( OR value was 10.02, 95% CI 5.93-16.92), femoral vein catheterization ( OR value was 1.73, 95% CI 1.32-2.25), age ( OR value was 1.94, 95% CI 1.50-2.51), diabetes mellitus ( OR value was 2.58, 95% CI 2.03-3.29) and hemoglobin level ( OR value was 1.61, 95% CI 1.18-2.18), were significantly different in each group (all P<0.05). Conclusions:The main of risk factors for catheter-related bloodstream infection in hemodialysis patients are catheter indwelling time, times of intubation, femoral vein catheterization, age, diabetes mellitus and hemoglobin level. However, the relationship between catheter-related bloodstream infection and albumin level needs to be confirmed by more studies.

Objective:To develop a questionnaire for compliance with the management standard of nosocomial infection control in hemodialysis rooms (centers), and to evaluate the reliability and validity.Methods:Based on the Knowledge, Attitude/Belief, Practice (KAP) survey model, the initial questionnaire was formed by using literature review, the brainstorming and expert consultation. And the final questionnaire was developed by preliminary investigation and the formal investigation, and the reliability and validity test was carried out.Results:The questionnaire consisted of 3 subscales of knowledge, attitude and practice, totaling 40 items. The S-CVI was 0.953, 0.979, 0.943 respectively and that of each item was above 0.867. In the exploratory factor analysis, 3, 1 and 3 common factors were extracted and the cumulative contribution rate was 47.178%, 68.313% and 62.271% respectively. The Cronbach α coefficient was 0.906 for the total questionnaire and 0.641, 0.958 and 0.864 for 3 subscales. The retest reliability was 0.954 for the total questionnaire and 0.694, 0.893 and 0.708 for 3 subscales.Conclusions:The questionnaire had high reliability and validity, which can be used as an effective evaluation tool for the standard to investigate the compliance of medical staffs in hemodialysis rooms.

Objective:To develop a curriculum integration attitude assessment scale for students in nursing school of China and to test its reliability and validity.Methods:The first draft of scale was developed with the methods of literature review and Delphi technique. From June to November 2018, we selected 575 interns from three nursing schools undergoing curriculum integration in Heilongjiang Province as respondents by convenience sampling. The reliability and validity of this scale were tested.Results:The curriculum integration attitude assessment scale for nursing students included three dimensions and 20 items. The content validity index of the total scale was 0.943 and that of items ranged from 0.8 to 1.0. Exploratory factor analysis extracted three factors including value tendency, participation tendency and emotional tendency with 77.602% for the cumulative variance contribution.The Cronbach's α coefficient of the total scale was 0.928 and that of dimensions ranged from 0.942 to 0.954; the Spearman-Brown coefficient of the total scale was 0.879 and that of dimensions ranged from 0.921 to 0.933; the test-retest reliability coefficient of the total scale was 0.789 and that of dimensions ranged from 0.549 to 0.779.Conclusions:The curriculum integration attitude assessment scale for nursing students has high reliability and validity which can be used to assess nursing students' attitude with curriculum integration so as to provide a scientific basis for further optimize curriculum system and a reference for similar teaching assessment.

Objective: To explore the mediating effects of self-focused attention between social anxiety and interpersonal needs. Methods: Totally 467 college students [159 males and 221 females, mean age (21 ±2)] were assessed with the Social Anxiety Scale (SAS), Self-Focused Attention Scale (SFAS) and Interpersonal Needs Questionnaire (INQ ). The bootstrap method was used to test the mediating effect Results: The SFAS and INQ scores were higher in female students than in males (Ps <0.01). The scores of SAS, SFAS, and INQ were positively correlated each other (r = 0.20 - 0.90, Ps < 0.01). Self-focused attention has a full mediating effect between social anxiety and interpersonal needs, and the 95％ confidence interval was (0.34, 0.59). Conclusion: It suggests that the effect of interpersonal needs on social anxiety may be achieved through self-focused attention in college students. Reducing the level of self-focused attention may be an important way to alleviate social anxiety among college students.

Objective:To evaluate the clinical efficacy and safety of the innovative topical ozone therapy for infantile atopic dermatitis.Methods:Sixty children with atopic dermatitis were divided into a treatment group and a control group.The treatment group was showered with ozonated water (3-5 times a week) and smeared with ozonated oil (twice a day),while the control group was washed with warm running water and smeared with base oil,adding moisturizer if necessary.The treatment course was 2 weeks.Efficacy and side effect were evaluated.Results:The skin exudation was reduced and erosion was healing after 3-5 days topical ozone therapy for infantile atopic dermatitis.The effective rates were 80.0％ and 20.0％ in the treatment group and control group for 1 week,and 89.6％ and 30.7％ for 2 weeks,respectively,with significant difference between the 2 groups (P＜0.001).Conclusion:Innovative treatment of infantile atopic dermatitis with topical ozone application is safe and effective,which is worth popularizing in clinic.

Objective: To design and make a mind map of enterostomy health education and provide a reference for health education of patients with enterostomy. Methods: The mental map group was set up, and the contents of health education for patients with enterostomy were initially established by referring to the literature and combining with the clinical practice. The first draft of mental health education mentality of enterostomy was made by drawing software. After consulting and verifying by experts finalized. Results: The formed intestinal orifice health education mind map consisted of 4 parts of admission education, preoperative education, postoperative education, discharge guidance and small modules contained in each part. Conclusions The mind map is comprehensive and can be used for health education of patients with enterostoma.

Objective:To explore the mediating effect of self-identity on the relationship between interpersonal adaptation and the tendency of mobile phone addiction in college students.Methods:Totally 498 college students (217 males and 281 females) were selected and assessed with the College Student Interpersonal Adaptability Inventory (CSIAI),Mobile Phone Addiction Tendency Scale (MPATS) and Personal Identity Scale(PIS).The bias-corrected percentile bootstrap method was used to analyze the mediating effect of self-identity between interpersonal adaptation and mobile phone addiction tendency in college students.Results:The MPATS scores of male students were significantly lower than female students [(2.6 ± 0.7) vs.(2.7 ± 0.6),P ＜ 0.05].The MPATS scores were negatively correlated with the scores of CSIAI and PIS (r =-0.31,-0.36,Ps ＜ 0.01),the CSIAI scores were positively correlated with the PIS scores (r =0.50,P ＜0.01).Self-identity played a partly mediating role between interpersonal adaptation and mobile phone addiction tendency,which accounted for 43.6％ of the total effect.Conclusion:It shows that the mobile phone addiction tendency may be related to interpersonal adaptation and self-identity,interpersonal adaptation could affect the mobile phone addiction tendency through the self-identity.

Objective To develop the scale to measure online intimate relationship and test its validity and reliability for college students.Methods A total of 1 105 subjects were recruited in this investigation for 6 times.Based on literatures,open-ended questionnaire investigations,semi-structured interview and experts' opinions,item analyses,exploratory factor analyses,validity and reliability analysis were conducted to develop the scale.Results The self-made scale showed a second-order structure,including intimacy,passion and commitment dimension.Confirmatory factor analysis showed that the model had good fit (χ2/df=3.47,GFI=0.92,NFI=0.90,CFI=0.92,TLI=0.90,IFI=0.92,RMSEA=0.08).The 3 dimensions had good internal reliability with Cronbach's α coefficients from 0.73 to 0.89 and retest reliability coefficients from 0.80 to 0.91.In addition,the scale had good external validity and convergent validity.ConclusionThe self-made scale has acceptable reliabilities and validities,which can be used to measure online intimate relationship for college students.