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Objective To analyze the clinical phenotypes and mutation types of children with X-linked Alport syndrome(XLAS)with mutations in COL4A5 gene,and to explore the relationship between children with XLAS and nephrotic syndrome nephritic type.Methods Thirty-two children with COL4A5 gene mutations detected by second-generation sequencing and finally diagnosed with Alport syndrome at Guangzhou Red Cross Hospital affiliated with Jinan University and the First People's Hospital of Guangzhou between April 2016 and April 2023 were included,and their clinicopathological features and gene mutation characteristics were retrospectively analyzed.Results The mean age of onset of disease in children with XLAS was(3.68±2.07)years old,the mean age at diagnosis(6.56±2.95)years old,12 cases(37.5%)started with isolated hematuria,8 cases(25%)started with hematuria and proteinuria,12 cases(37.5%)started with nephrotic syndrome nephritic phenotype,and the positive family history of the children was found in 11 cases(34.4%),ocular lesions were found in 3 cases(9.37%),ear lesions in 6 cases(18.75%),and 7 cases(21.87%)were found to have developed chronic kidney disease(CKD)in the later follow-up.21 children underwent renal tissue puncture biopsy,and electron microscopy showed thinning of the basement membrane(diffuse or segmental)in 13 cases(61.9%),and uneven thickness of the basement membrane in 8 cases(38.09%);light microscopy showed thinning of the basement membrane in 13 cases(61.9%);light microscopy showed thinning of the basement membrane in 8 cases(38.09%);and light microscopy showed thinning of the basement membrane in 3 cases(11.5%).(38.09%);light microscopy:focal segmental glomerulosclerosis(FSGS)in 2 cases(9.52%),mesangial proliferative glomerulonephritis(Ms PGN)in 11 cases(52.38%),and minimal change disease(MCD)in 8 cases(38.09%).The type of mutation was categorized as missense mutation in 12 cases(37.5%),shear site mutation in 9 cases(28.12%),nonsense mutation in 6 cases(18.75%),deletion mutation in 3 cases(9.37%),and code shift mutation in 2 cases(6.25%).Genetic mutations were present in 22 cases(68.75%);spontaneous mutations were present in 10 cases(27.02%).Conclusions Children with XLAS have atypical clinical manifestations and pathologic features in the early stage of the disease,and the progress is slow,and some of them are easy to be misdiagnosed as nephrotic syndrome nephritis type in the early stage,so it is important to improve the genetic test for this disease as early as possible,and to make reason-able drug choices to predict the prognosis scientifically.
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Objective To evaluate potential protective effects of inhaled budesonide on bronchopulmonary dysplasia (BPD) in premature infants and its impact on the intelligence development at 1 year of age. Methods A total of 82 preterm infants admitted to the neonatal intensive care center from January 2017 to January 2018 were selected as research subjects. The enrolled subjects were divided into a study group (Budesonide) and a control group (saline) by random number table method, with 41 cases in each group. The incidence of BPD, mortality, hospitalization time, time of withdrawal and oxygenation, and complications were compared between the two groups. The patients were regularly followed up to 1 year old after discharge. The physical growth and Gesell intelligence development of the two groups were compared. Results The incidence of BPD in the study group was significantly lower than that in the control group, and the difference was statistically significant (P<0.05). There was no significant difference in mortality between the two groups. The hospitalization time, weaning and oxygenation time, and 1-week re-intubation rate in the study group were significantly lower than those in the control group (P<0.05). There was no significant difference between the two groups in the incidence of adverse reactions and physical growth at 1 year old and Gesell intelligence evaluation. Conclusion Budesonide aerosol inhalation reduced the incidence of BPD in premature infants, shortened hospitalization and weaning time, and there were no near-term and long-term adverse reactions.
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Objective:To analyze the reform of improving the teaching effects of nursing college students' practical training.Methods:Cluster sampling method was used to select 396 nursing college students in a higher nursing school as the research objects, with 197 in experimental group and 199 in control group. Self-directed learning was adopted in practical teaching of surgical nursing in the students in experimental group, and traditional surgery teaching was adopted in control group. Self-rating scale of self-directed learning (SRSSDL) was used every 3 months during the period. The students' self-directed learning ability was measured dynamically, and the scores of practical examination and course satisfaction were compared between the two groups. The data were statistically analyzed by repeated measures analysis of variance and independent sample t-test using SPSS 17.0.Results:The scores of repeated measurement of SRSSDL in the experimental group were higher than those in the control group ( F=16.237, P=0.016). Except for the common surgical instruments module ( P=0.056), the scores of practical training examination in the experimental group were higher than those in the control group, and the differences were statistically significant ( P<0.01 for the operating room nursing module, P=0.005 for the wound nursing module, P<0.01 for the enterostomy nursing module). The students' satisfaction with the overall curriculum in the experimental group was higher than that in the control group. Conclusion:Self-directed learning in the teaching of nursing practice can effectively enhance comprehensive ability and quality of students based on self-directed learning ability, and improve the teaching effect of practical training courses.
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Objective To evaluate comprehensively the effect of vibratory sputum ejectionmachine on patients by comparing the volume of vibratory sputum ejection machine and the traditional back percussion sputum expectoration.Methods Searching thoroughly Chinese Journal Full-text Database(CJFD),VIP CJFD,Wanfang Periodical Database,collecting the clinical randomized controlled trials of domestic vibratory sputum ejection machine and traditional back percussion sputum expectoration and employing RevMan5.0 processing software for statistical analysis.Results Vibration expectoration instrument is better than the traditional back percussion sputum expectoration.Conclusions Vibratory sputum ejection machine can increase the amount of expectoration drainage in patients and reduce pulmonary infection.
