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ObjectiveTo investigate the epidemic characteristics and influencing factors of acute conjunctivitis caused by human adenovirus(HAdv)in Yantian District of Shenzhen City, Guangdong Province from 2014 to 2022, and to provide evidence for formulating effective prevention and control measures. MethodsDescriptive epidemiology was used to analyze the epidemiological characteristics of acute hemorrhagic conjunctivitis (AHC) cases reported from the Chinese disease prevention and control information system. Etiological characteristics of laboratory-confirmed cases were analyzed, and a case-control study method of test-negative design (TND) was conducted as well. According to the result of HAdv detection, analysis was used to identify the influencing factors of morbidity. ResultsA total of 1 005 AHC cases were reported in Yantian District, Shenzhen City from 2014 to 2022, with an average annual incidence rate of 49.49/105. The incidence rate ranged from 4.67/105 to 117.28/105. The peak incidence occurred from July to October each year, with a male-to-female ratio of 1.42∶1. The median (P25,P75) age of onset was 29(12,40) years. A total of 716 eye swabs were collected for etiological detection from 2014 to 2022. HAdv positive detection rate was 36.45% (263/716), Cox 24v positive detection rate was 0.28% (2/716), while EV70 was not detected. The longest viral shedding time in eye swabs was 10 days, with a median of 2 days. The highest HAdv positive detection rate (47.47%) was observed when the sampling-to-onset interval was 4‒5 days, and the difference was statistically significant (P<0.05), with a trend of first increasing and then decreasing. Multivariate logistic regressing analysis showed that aged 18‒ years, and average temperature higher than 24.90 ℃ 3 days before onset (P<0.05) were the risk factors for acute HAdv conjunctivitis. ConclusionAHC in Yantian District, Shenzhen City showed a low level of prevalence from 2014 to 2022, with HAdv being the predominant pathogen. The peak period of viral shedding occurred on the 4th to 5th day after symptom onset, suggesting the importance of adherence to strict home isolation for infected persons. Aged18‒ years and average temperature increased 3 days before onset are associated with an increased risk of adenoviral conjunctivitis. It is recommended to strengthen personal protection and keep doing a good job of AHC surveillance and early warning, so as to timely prevent the outbreaks of AHC.
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Compared to the general population, there is a higher prevalence of epilepsy in individuals with cerebral palsy (CP). Epilepsy serves as an indicator of CP severity and has a significant impact on the early survival and future quality of life of children with CP. Therefore, it is crucial to investigate the shared mechanisms underlying CP and epilepsy. This study aims to summarize the comorbidity of CP and epilepsy from genetic factors, risk factors, and pathophysiological mechanisms, in order to provide a reference for further research.
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Objective To construct a risk prediction model of pulmonary involvement based on chest CT and clinical feature in patients with primary Sjogren's syndrome(pSS),and to explore the risk prediction value of the model.Methods A total of 360 pSS patients who had been treated at Handan Hospital of Traditional Chinese Medicine from October 2020 to August 2023 were retrospectively selected as study objects,and were then divided into a modeling group(252 patients)and a verification group(108 patients)according to a ratio of 7∶3.The patients in the modeling group were divided into a control group(201 patients)and an involvement group(51 patients)based on presence or absence of lung involvement.The data on clinical characteristics and features of chest high-resolution CT(HRCT)in the modeling group was collected.Univariate analysis was performed among the groups to determine the relevant factors affecting lung involvement in pSS patients.Binary logistic regression analysis was performed on related factors to screen independent risk factors.A prediction model was established based on the independent risk factors.A verification and value analysis of the column-line prediction model were completed through data collection of the verification group.Results Age,disease course,cough,Raynaud's phenomenon,C-reactive protein(CRP),anti-SSA antibody,and HRCT were the relevant factors affecting lung involvement in pSS patients(all P<0.05).Further binary logistic regression analysis showed that old age,prolonged disease course,cough and abnormal HRCT imaging were independent risk factors for lung involvement in SS patients(all P<0.05).A nomogram risk prediction model was constructed based on independent factors.The model verification results indicated that the calibration chart showed better performance in the prediction model.The AUC of the area under the receiver operating characteristic(ROC)curve was 0.993 the modeling group and 0.995 in the validation group.Conclusions The clinical characteristics and the results of chest CT are closely related with lung involvement in patients with pSS.Old age,prolonged disease course,cough,and abnormal HRCT imaging are independent risk factors affecting lung involvement in patients with pSS.The prediction model established on this basis has a higher predictive value for the occurrence of lung involvement in patients receiving after-loading radiotherapy.
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【Objective】 To establish a blood quality monitoring indicator system, in order to continuously improve blood quality and standardized management. 【Methods】 Based on the research of literature and standards, and guided by the key control points of blood collection and supply process, the blood quality monitoring indicator system was developed. Through two rounds of Delphi expert consultation, the indicator content was further revised and improved according to expert opinions after six months of trial implementation. The indicator weight was calculated by questionnaire and analytic hierarchy process. 【Results】 A blood quality monitoring indicator system covering the whole process of blood collection and supply was constructed, including five primary indicators, namely blood donation service, blood component preparation, blood testing, blood supply and quality control, as well as 72 secondary indicators, including definitions, calculation formulas, etc. Two rounds of expert consultation and two rounds of feasibility study meeting were held to revise 17 items and the weight of each indicator was obtained through the analytic hierarchy process. After partial adjustments, a blood quality monitoring indicator system was formed. 【Conclusion】 A blood quality monitoring indicator system covering the whole process of blood collection and supply has been established for the first time, which can effectively evaluate the quality management level of blood banks and coordinate blood quality control activities of blood banks in Shandong like pieces in a chess game, thus improving the standardized management level
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【Objective】 To objectively evaluate the quality control level of blood testing process in blood banks through quantitative monitoring and trend analysis, and to promote the homogenization level and standardized management of blood testing laboratories in blood banks. 【Methods】 A quality monitoring indicator system covering the whole process of blood collection and supply, including blood donation service, blood component preparation, blood testing, blood supply and quality control was established. The questionnaire Quality Monitoring Indicators for Blood Collection and Supply Process with clear definition of indicators and calculation formulas was distributed to 17 blood banks in Shandong province. Quality monitoring indicators of each blood bank from January to December 2022 were collected, and 31 indicators in terms of blood testing were analyzed using SPSS25.0 software. 【Results】 The proportion of unqualified serological tests in 17 blood bank laboratories was 55.84% for ALT, 13.63% for HBsAg, 5.08% for anti HCV, 5.62% for anti HIV, 18.18% for anti TP, and 1.65% for other factors (mainly sample quality). The detection unqualified rate and median were (1.23±0.57)% and 1.11%, respectively. The ALT unqualified rate and median were (0.74±0.53)% and 0.60%, respectively. The detection unqualified rate was positively correlated with ALT unqualified rate (r=0.974, P0.05), while the outrage rate was positively correlated with the usage rate (r=0.592, P<0.05). A total of 443 HBV DNA positive samples were detected in all blood banks, with an unqualified rate of 3.78/10 000; 15 HCV RNA positive samples were detected, with an unqualified rate of 0.13/10 000; 5 HIV RNA positive samples were detected, with an unqualified rate of 0.04/10 000. The unqualified rate of NAT was (0.72±0.04)‰, the single NAT reaction rate [(0.39±0.02)‰] was positively correlated with the single HBV DNA reaction rate [ (0.36±0.02) ‰] (r=0.886, P<0.05). There was a difference in the discriminated reactive rate by individual NAT among three blood bank laboratories (C, F, H) (P<0.05). The median resolution rate of 17 blood station laboratories by minipool test was 36.36%, the median rate of invalid batch of NAT was 0.67%, and the median rate of invalid result of NAT was 0.07‰. The consistency rate of ELISA dual reagent detection results was (99.63±0.24)%, and the median length of equipment failure was 14 days. The error rate of blood type testing in blood collection department was 0.14‰. 【Conclusion】 The quality monitoring indicator system for blood testing process in Shandong can monitor potential risks before, during and after the experiment, and has good applicability, feasibility, and effectiveness, and can facilitate the continuous improvement of laboratory quality control level. The application of blood testing quality monitoring indicators will promote the homogenization and standardization of blood quality management in Shandong, and lay the foundation for future comprehensive evaluations of blood banks.
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【Objective】 To establish an effective quality monitoring indicator system for blood quality control in blood banks, in order to analyze the quality control indicators for blood collection and supply, and evaluate blood quality control process, thus promoting continuous improvement and standardizing management of blood quality control in blood banks. 【Methods】 A quality monitoring indicator system covering the whole process of blood collection and supply, including blood donation services, component preparation, blood testing, blood supply and quality control was established. The Questionnaire of Quality Monitoring Indicators for Blood Collection and Supply Process was distributed to 17 blood banks in Shandong, which clarified the definition and calculation formula of indicators. The quality monitoring indicator data from January to December 2022 in each blood bank were collected, and 20 quality control indicators data were analyzed by SPSS25.0 software. 【Results】 The average pass rate of key equipment monitoring, environment monitoring, key material monitoring, and blood testing item monitoring of 17 blood banks were 99.47%, 99.51%, 99.95% and 98.99%, respectively. Significant difference was noticed in the pass rate of environment monitoring among blood banks of varied scales(P<0.05), and the Pearson correlation coefficient (r) between the total number of blood quality testing items and the total amount of blood component preparation was 0.645 (P<0.05). The average discarding rates of blood testing or non-blood testing were 1.14% and 3.36% respectively, showing significant difference among blood banks of varied scales (P<0.05). The average discarding rate of lipemic blood was 3.07%, which had a positive correlation with the discarding rate of non testing (r=0.981 3, P<0.05). There was a statistically significant difference in the discarding rate of lipemic blood between blood banks with lipemic blood control measures and those without (P<0.05). The average discarding rate of abnormal color, non-standard volume, blood bag damage, hemolysis, blood protein precipitation and blood clotting were 0.20%, 0.14%, 0.06%, 0.06%, 0.02% and 0.02% respectively, showing statistically significant differences among large, medium and small blood banks(P<0.05).The average discarding rates of expired blood, other factors, confidential unit exclusion and unqualified samples were 0.02%, 0.05%, 0.003% and 0.004%, respectively. The discarding rate of blood with air bubbles was 0.015%, while that of blood with foreign body and unqualified label were 0. 【Conclusion】 The quality control indicator system of blood banks in Shandong can monitor weak points in process management, with good applicability, feasibility, and effectiveness. It is conducive to evaluate different blood banks, continuously improve the quality control level of blood collection and supply, promote the homogenization and standardization of blood quality management, and lay the foundation for comprehensive evaluation of blood banks in Shandong.
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【Objective】 To establish an effective quality indicator monitoring system, scientifically and objectively evaluate the quality management level of blood banks, and achieve continuous improvement of quality management in blood bank. 【Methods】 A quality monitoring indicator system that covers the whole process of blood collection and supply was established, the questionnaire of Quality Monitoring Indicators for Blood Collection and Supply Process with clear definition of indicators and calculation formulas was distributed to 17 blood banks in Shandong. Statistical analysis of 21 quality monitoring indicators in terms of blood donation service (10 indicators), blood component preparation (7 indicators ), and blood supply (4 indicators) from each blood bank from January to December 2022 were conducted using SPSS25.0 software The differences in quality monitoring indicators of blood banks of different scales were analyzed. 【Results】 The average values of quality monitoring indicators for blood donation service process of 17 blood banks were as follows: 44.66% (2 233/5 000) of regular donors proportion, 0.22% (11/50) of adverse reactions incidence, 0.46% (23/5 000) of non-standard whole blood collection rate, 0.052% (13/25 000) of missed HBsAg screening rate, 99.42% (4 971/5 000) of first, puncture successful rate, 86.49% (173/200) of double platelet collection rate, 66.50% (133/200) of 400 mL whole blood collection rate, 99.25% (397/400) of donor satisfaction rate, 82.68% (2 067/2 500) of use rate of whole blood collection bags with bypass system with sample tube, and 1 case of occupational exposure in blood collection.There was a strong positive correlation between the proportion of regular blood donors and the collection rate of 400 mL whole blood (P<0.05). The platelet collection rate, incidence of adverse reactions to blood donation, and non-standard whole blood collection rate in large blood banks were significantly lower than those in medium and small blood banks (P<0.05). The average quality monitoring indicators for blood component preparation process of 17 blood banks were as follows: the leakage rate of blood component preparation bags was 0.03% (3/10 000), the discarding rate of lipemic blood was 3.05% (61/2 000), the discarding rate of hemolysis blood was 0.13%(13/10 000). 0.06 case had labeling errors, 8 bags had blood catheter leaks, 2.76 bags had blood puncture/connection leaks, and 0.59 cases had non-conforming consumables. The discarding rate of hemolysis blood of large blood banks was significantly lower than that of medium and small blood banks (P<0.05), and the discarding rate of lipemic blood of large and medium blood banks was significantly lower than that of small blood banks (P<0.05). The average values of quality monitoring indicators for blood supply process of 17 blood banks were as follows: the discarding rate of expired blood was 0.023% (23/100 000), the leakage rate during storage and distribution was of 0.009%(9/100 000), the discarding rate of returned blood was 0.106% (53/50 000), the service satisfaction of hospitals was 99.16% (2 479/2 500). The leakage rate of blood components during storage and distribution was statistically different with that of blood component preparation bags between different blood banks (P<0.05). There were statistically significant differences in the proportion of regular blood donors, incidence of adverse reactions, non-standard whole blood collection rate, 400 mL whole blood collection rate, double platelet collection rate, the blood bag leakage rate during preparation process, the blood components leakage rate during storage and distribution as well as the discarding rate of lipemic blood, hemolysis blood, expired blood and returned blood among large, medium and small blood banks (all P<0.05). 【Conclusion】 The establishment of a quality monitoring indicator system for blood donation services, blood component preparation and blood supply processes in Shandong has good applicability, feasibility and effectiveness. It can objectively evaluate the quality management level, facilitate the continuous improvement of the quality management system, promote the homogenization of blood management in the province and lay the foundation for future comprehensive evaluation of blood banks.
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IgA nephropathy (IgAN) is currently the most common primary glomerulonephritis worldwide, with 20%-40% of patients progressing to end-stage renal disease within 20 years of diagnosis. At present, the pathogenesis of IgAN is not clear, and clinical treatment is mainly to control the progression, without specific treatment plan. A series of studies on galactose-deficient IgA1 (Gd-IgA1) suggest that the pathogenesis of IgAN involves multiple links. This review summarizes the research progress on the pathogenesis of IgAN, covering the structure characteristics of IgA1, Gd-IgA1 antibodies and Gd-IgA1 immune complexes in IgAN patients, the deposition of Gd-IgA1 immune complexes in the kidneys, kidney damage following the deposition of Gd-IgA1 immune complexes, the role of complement in IgAN, the genomics of IgAN, and mucosal immunity in IgAN, providing clues and insights for further research and clinical treatment.
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Objective:To analyze the clinical and genetic features of the children with 5p15.1-5p15.33 duplication at the end of the short arm of chromosome 5 (5p).Methods:Clinical data of a 5p15.1-5p15.33 duplicative patient diagnosed in the Department of Pediatric Intensive Care Unit of West China Second University Hospital of Sichuan University in July 2021 were collected, and the characteristics of the patients of 5p duplication syndrome reported in the literatures were summarized and analyzed.Results:The boy was 1 year and 5 months old at the time of admission. The main clinical manifestations included growth restriction and developmental delay after birth, accompanied by craniofacial deformities. At 7 months old, he was diagnosed as epilepsy due to convulsive limbs. At present, he is 2 years old, still has recurrent convulsions, can not raise his head, sit alone, crawl and talk, with hypotonia. Repeated cranial magnetic resonance imaging showed agenesis of the corpus callosum. The child′s parents had normal phenotypes. His copy number variation sequencing results showed partial overlap of chromosome 5p15.1-5p15.33 (chr5:1934522-18905656), which was determined as pathogenic copy number variation according to copy number variations evaluation criteria, and no abnormality was detected in his parents. According to the retrieval strategy set in this study, 10 literatures (all in English, reporting 17 cases) were retrieved, and a total of 22 5p duplication syndrome patients (including this case and 4 cases included in databases) were included. Seventeen of the 22 patients were younger than 14 years old with a onset age of 7 (0, 18) years, and the male to female ratio was about 1.1∶1. Among the 22 patients, craniofacial malformation was found in 19 patients, developmental disorder in 18, bone/muscle dysplasia in 15, autism in 11, attention deficit hyperactivity disorder in 9, mental retardation in 8, obesity in 5, epilepsy in 5, congenital heart dysplasia in 2, hypotonia in 4, strabismus/hyperopia in 2, and corpus callosum dysplasia, endocrine dysfunction, inguinal hernia as well as umbilical hernia in 1, respectively. There were 19 cases of multiple malformation and 3 cases of single malformation.Conclusions:5p15.1-5p15.33 duplication may be the genetic cause of this child. Facial malformation, developmental delay, skeletal/muscular dysplasia, intellectual disability, autism spectrum disorder and attention deficit hyperactivity disorder are the main clinical phenotypes of 5p copy number duplication. Corpus callosum dysplasia may be an extended phenotype of chromosome duplication at this location.
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Primary biliary cirrhosis/cholangitis is an autoimmune disease. Renal tubular acidosis is a common form in PBC cases, but Fanconi syndrome is rarely reported. The paper reported a 66-year-old female patient with fatigue, renal insufficiency and elevated bile duct enzymes. The patient presented with type 2 proximal renal tubular acidosis and complete Fanconi syndrome. Laboratory examinations showed high-titer-positive anti-mitochondrial antibodies, elevated serum IgM, and type 3 cryoglobulinemia. Renal biopsy revealed interstitial nephritis, and electron micrographs showed abnormal mitochondria in proximal tubular epithelial cells. The patient's renal function ameliorated, and acid-base imbalance and electrolyte disturbances were corrected after high-dose glucocorticoid treatment.
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Post-stroke cognitive impairment (PSCI) refers to a clinical syndrome that occurs after a stroke and meets the diagnostic criteria for cognitive impairment, lasting for more than 6 months, and seriously affecting the daily life of patients. The complement system has been confirmed to be associated with PSCI. This article reviews the correlation between complement system and PSCI, as well as the possibility of complement system as an intervention target for PSCI.
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Cerebrovascular diseases and cardiovascular diseases are among the top causes of death worldwide. In recent years, the concept of "brain-heart co-treatment" has gradually gained popularity. Cerebrovascular and cardiovascular diseases have similar pathological foundations, pathogenesis, comorbidities, and treatment methods. However, there is currently limited research on whether the two have a chronological order of the first onset and which is the index event of the other. However, elucidating the above issues is of great significance for the secondary prevention of cardiocerebrovascular diseases. This article reviews the correlation of onset time and influencing factors for ischemic stroke and myocardial infarction.
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Objective:To explore the mediating effect of hardness on growth mindest and transition shock among nursing undergraduate interns, and to provide theoretical basis for promoting clinical adaptability of nurses.Methods:Totally 223 nursing undergraduates who practiced in five grade A hospitals in Shanghai city, Henan province and Jiangsu province were selected as the participants by convenient sampling from September to October 2022. General information questionnaire, Growth Mindset Scale (GMS), Hardness scale, and the Transition Shock of Newly Graduated Nurses (TSNGNS) were used in the questionnaire cross section survey.Results:Totally 210 valid questionnaires were retrieved. The scores of growth mindset, hardness and transition shock were (32.67 ± 4.52), (63.80 ± 13.51) and (86.97 ± 18.70), respectively. Growth mindset was positively correlated with hardness ( r=0.369, P<0.01), growth mindset was negatively correlated with transition shock ( r=-0.334, P<0.01), and resilience was negatively correlated with transition shock ( r=-0.346, P<0.01). Hardness had a partial mediating effect on the association between growth mindset and transition shock in nursing undergraduate interns, with 27.35% mediating effect. Conclusions:Growth mindset can affect the transition shock in nursing undergraduate interns through hardness. Nursing educators should pay attention to the development of growth mindset and the cultivation of hardness of nursing interns, and take targeted measures to reduce the transition shock and promote clinical adaptability.
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Objective:To explore the relation among self-esteem, psychological flexibility and mental health in medical students, and to provide scientific reference for mental health education for medical students.Methods:A total of 788 medical students selected from a medical university in Chongqing City were investigated with the symptom checklist 90 (SCL-90), self-esteem scale (SES), acceptance and action questionnaire-Ⅱ (AAQ-Ⅱ), and cognitive fusion questionnaire-fusion (CFQ-F). SPSS 22.0 software was used for statistical analysis. T test, ANOVA, correlation analysis and tests for mediation effects were conducted. Results:There were significant differences in self-esteem and mental health level among medical students in gender and different grades ( t=-2.55, P<0.05; F=6.53, P<0.05). Mental health, self-esteem and psychological flexibility of medical students were correlated in pairs ( r=-0.528-0.694, P<0.01). Psychological flexibility played a partial mediation role between self-esteem and mental health of medical students, and the mediating effect accounted for 60.03% of the total effect. Conclusion:Self-esteem can directly predict the mental health of medical students, and can also indirectly affect mental health through psychological flexibility. Medical universities should carry out psychological education and promotion work with pertinence.
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Food enzymology and enzyme engineering is an important professional course of food science. The course includes the basic theory of enzymology, enzyme engineering technology and the application of enzymes in food industry. Considering the knowledge gap between the teaching contents and the cutting-edge researches, the team constantly adjusted and optimized the course contents to enable students to keep up with state-of-the-art progress by carefully mining the cutting-edge researches. Taking cutting-edge researches as the breakthrough point, we explored the problem-based learning (PBL) teaching model under the guidance of outcome-based education (OBE) concept, and highlighted the importance of the teacher-student and student-student interactions to improve students' enthusiasm and participation. A diversified assessment system was established to evaluate the performance of students in the learning process. The teaching reform consolidated the basic knowledge and expanded the academic frontiers, and fostered students' ability in analyzing problems, designing solutions and achieving team communication. The course may give new insights into the teaching reform of food enzymology and enzyme engineering and other related courses.
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Humanos , Estudantes , AprendizagemRESUMO
【Objective】 To identify the main unqualified items in the external audit of blood station quality management system (referred to as external audit), in order to take necessary measures to continuously improve the quality system. 【Methods】 Unqualified items(data) in the national and Shandong provincial blood safety technical audits (referred to as national and provincial audits) and four blood station blood safety technical joint audits (referred to as inter station mutual audits) from 2017 to 2019 were collected and analyzed by Excel and Pareto curves (graphs). Corresponding corrective and preventive measures were developed and implemented, and then tracked and evaluated by the quality management department three months after the external audit to verify their effectiveness. 【Results】 In a total of 7 external audits of blood station quality management system that our blood station has participated in over the past 3 years (including 2 national audits, 2 provincial audits, and 3 inter station mutual audits), the main unqualified terms were "12 monitoring and continuous improvement" 11.90% (15/126), "13 blood donation services" 11.90% (15/126), "06 equipment" 10.32% (13/126), "11 records" 10.32% (13/126), "03 organization and personnel" 8.73% (11/126), "15 blood preparation" 7.94% (10/126), "08 safety and health" 7.14% (9/126), and "14 blood testing" 7.14% (9/126). Among them, "monitoring and continuous improvement" ranked first in two national audits and two provincial audits, with 16.67% (5/30) and 14.71% (5/34), respectively, and was 8.06% (5/62) in inter station mutual audit, and the difference between the three kinds of audits was not statistically significant (P>0.05). "Records" accounted the highest proportion in inter station mutual review of 19.35% (12/62), while was respectively 0 and 2.94% (1/34) in national and provincial audits, with statistically significant difference between the three kinds of audits (P<0.05). 【Conclusion】 External audit against unqualified items is important for quality improvement. By analyzing the unqualified terms, taking corresponding measures to improve weak links, and evaluating the effectiveness of those measures, it can effectively ensure the effective operation of blood station quality management system.
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OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with rare type heart disease.@*METHODS@#A pedigree identified at Shenzhen Maternity and Child Health Care Hospital Affiliated to Southern Medical University on July 9, 2021 was selected as the study subject. Clinical data were collected. Trio-whole exome sequencing (WES) was carried out for the proband and his parents. Candidate variants were validated by Sanger sequencing of his family members and bioinformatic analysis.@*RESULTS@#The proband, a 5-month-old male, was found to have Barth syndrome (dilated myocardiopathy and left ventricular non-compaction). Trio-WES revealed that he has harbored a hemizygous c.542G>A (p.G181A) variant of the TAZ gene, which was inherited from his mother. In addition, his mother, aunt and maternal grandmother were also found to harbor a c.557G>A (p.R186Q) variant of the TNNI3 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.542G>A (p.G181A) variant of the TAZ gene was classified as likely pathogenic (PS2_Strong+PM2_Supporting+PP3), whilst the c.557G>A (p.R186Q) variant of the TNNI3 gene was classified as pathogenic (PP1_Strong+PS4_Strong+PP3+PP4+PM2_Supporting).@*CONCLUSION@#The c.542G>A (p.G181A) variant of the TAZ gene probably underlay the Barth syndrome in the proband, and the c.557G>A (p.R186Q) variant of the TNNI3 gene may be responsible for the hypertrophic cardiomyopathy in his mother, aunt and maternal grandmother. Above finding has expanded the mutational spectrum of the TAZ gene and facilitated the diagnosis of this pedigree.
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Feminino , Humanos , Lactente , Masculino , Gravidez , Síndrome de Barth , Cardiomiopatia Hipertrófica , População do Leste Asiático , Cardiopatias , LinhagemRESUMO
Objective:To improve the understanding of cervical papillary squamous cell carcinoma (PSCC), and to provide evidence for the diagnosis and treatment of PSCC.Methods:The clinicopathological and follow-up data of 18 patients diagnosed PSCC by preoperative cervical biopsy in Tangshan Gongren hospital were collected, the correlation of preoperative biopsy, liquid-based cells, and human papilloma virus (HPV) with postoperative pathology and prognosis was analyzed.Results:The concordance rate between preoperative biopsy and postoperative pathology was 50% (9/18). 4 patients showed the characteristic features of PSCC in their liquid-based cells of the 9 patients who were diagnosed as PSCC postoperatively (4/9), the HPV infection rate was 44.4% (4/9), the International Federation of Gynecology and Obstetrics stage were IA1-IB1, no lymph node metastasis, recurrence or death occurred in all patients.Conclusions:Cervical biopsy before operation has certain limitations in the diagnosis of PSCC, which requires a clear diagnosis by postoperative pathology. The HPV infection rate is lower, the stage is earlier and the prognosis is better in PSCC. Some patients can choose a less invasive surgical method than radical surgery.
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Objective:To summarize the best evidence of post-stroke insomnia nursing and provide basis for clinical practice.Methods:According to the "6S" pyramid model, the system searched UpToDate, Scottish Interhospital Guidelines Network, US National Guidelines Network, JBI Evidence Based Health Care Center Database, BMJ Best Clinical Practice, NICE Guidelines Network, China Medical Pulse Communication Guidelines Network, Ontario Registered Nurses Network, The Cochrane Library, PubMed, Web of Science, Medline, Embase, CINAHL, CNKI, Wanfang, VIP and Chinese Biomedical Literature Database and related association websites. Evidence on the post-stroke insomnia nursing, including guidelines, systematic evaluations, expert consensus, etc. The retrieval period was from the database construction to February 19, 2022. The quality of the literature was evaluated by the corresponding articles evaluation criteria.Results:A total of 24 articles were selected, including 6 guidelines, 16 systematic reviews and 2 expert consensus. Totally 26 pieces of the best evidence on 5 aspects including the evaluation of sleep quality, the diagnosis of post-stroke insomnia, the development of individual plan, non-pharmaceutical intervention, and traditional Chinese medicine nursing intervention were finally summarized.Conclusions:The summarized evidence of post-stroke insomnia nursing, for can be used to provides scientific and effective evidence-based basis for nursing staff to carry out clinical practice. It is suggested that the specific evidence should be selected according to the specific situation of patients in clinical application.
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Erythroferrone is a newly discovered and important factor regulating iron homeostasis and mainly produced by erythroblasts. Erythroferrone responds to the increase of erythropoietin and regulates plasma iron level, along with the absorption and utilization of iron via hepcidin, which plays an important role in the pathophysiology of iron metabolism-related diseases. Erythropoietin deficiency and iron metabolism disturbance are prominent features of renal anemia complicated with chronic kidney disease. Accordingly, erythroferrone is corresponding to the pathogenesis, treatment and prognosis of renal anemia. The in-depth study contributes to the further understanding of the mechanism related to iron metabolism disorder, and erythroferrone is also expected to be used as a valuable biomarker in the detection of renal anemia and the evaluation of therapeutic response. The article systematically reviews the physiological function of erythroferrone and its research progress in iron metabolism and renal anemia.