Objective:To explore the clinical manifestations and pathogenic variant in a family with epilepsy, developmental delay and brain deformity.Methods:Clinical data of the child and his family members who had visited the Department of Pediatrics, Linyi People's Hospital on July 2, 2022 were collected. The child, his sister and parents were subjected to high-throughput sequencing, and the result was verified by Sanger sequencing.Results:The child was a 6-year-old boy with developmentally delay and had epileptic seizures with fever sensitivity for four years. Cranial imaging showed brain dysplasia, while the video electroencephalogram showed abnormal discharge. High-throughput sequencing showed the child has harbored a heterozygous c. 5G>T (p.Arg2Leu) variant of TUBB2A gene, which was unreported previously. His sister also carried the variant and had similar clinical manifestations, whilst his parents were of the wild-type and had normal clinical phenotypes. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+ PM2_Supporting+ PM5+ PP1+ PP2+ PP3). Conclusion:The heterozygous c. 5G>T (p.Arg2Leu) variant of the TUBB2A gene, in the form of gonadal mosaicism, probably underlay the disorders in this family.

Objective:To retrieve, summarize, evaluate and integrate the best evidence for the prevention and management of center venous catheter dysfunction in hemodialysis patients.Methods:The relevant literature on prevention of center venous catheter dysfunction in hemodialysis patients was systematically searched in UpToDate, BMJ Best Practice, Cochrane Library, National Guideline Clearinghouse, Guidelines International Network, National Kidney Foundation, PubMed, CNKI and other databases, including guidelines, clinical decision-making, evidence summary, systematic evaluation and expert consensus. The search period was from January 1st, 2013 to March 1st, 2023. Two researchers independently evaluated the quality of the literature, evaluated the quality of the included literature and extracted evidence.Results:A total of 15 articles were included, including three guidelines, three clinical decision-making, five expert consensus, two systematic evaluations, one evidence summary and one government document. Ultimately, seven themes and 32 best evidence were formed, including personnel training and management, evaluation and monitoring, catheter insertion, catheter maintenance, drug prevention, catheter dysfunction management and health education.Conclusions:This study summarizes the best evidence for the prevention and management of center venous catheter dysfunction in hemodialysis patients. Medical staff can choose and apply this evidence-based basis based on clinical situations and patient preferences, thereby reducing the incidence of catheter dysfunction.

Objective To study the role of microRNA(miR)-483-3p in reducing myocardial fibrosis in rats,and explore the relationship between its mechanism and autophagy.Methods A total of 24 male SD rats were randomly divided into sham operation group,model group,blank transfec-tion group and high expression group,with 6 rats in each group.The blank transfection group and the high-expression group were pretreated with a single injection of adeno-associated virus(AAV)-blank transfection and AAV-miR-483-3p(5×1011 vg)in the tail vein,respectively.In 14 d later,the sham group was injected with 2.5 ml/(kg·d)normal saline for 14 d,and rat model of myocardial fibrosis was established by 2 mg/ml isoproterenol[2.5 ml/(kg·d)]injection through tail vein for 14 consecutive days.Myocardial pathological damage,severity of myocardial fibrosis,and expression levels of collagen-Ⅰ,microtubule-associated protein light chain 3(LC3),autoph-agy-related protein 5(Atg5)and autophagy degradation substrate(P62)in cardiomyocytes were evaluated and measured.Results Compared with the sham operation group,the model group had obviously larger myocardial fibrosis area,higher positive expression of Collagen-Ⅰ,and increased protein levels of Atg5 and LC3-Ⅱ/LC3-Ⅰ,and decreased expression level of P62 protein(P＜0.05).The myocardial fibrosis area,positive expression of Collagen-Ⅰ,the expression levels of Atg5 and LC3-Ⅱ/LC3-Ⅰ protein[(13.64±1.51)％vs(27.47±1.55)％,(13.48±3.07)％vs(30.91±2.45)％,0.98±0.17 vs 1.24±0.28,0.66±0.05 vs 1.26±0.09,P＜0.05]were significant-ly decreased,and the expression level of P62 was notably increased(0.91±0.11 vs 0.74±0.06,P＜0.05)in the high expression group than the model group.Conclusion MiR-483-3p attenuates myocardial fibrosis in rats,and the mechanism may be related to the inhibition of cardiomyocyte autophagy.

Heat shock proteins (HSPs) widely exist in all organisms, the structures of which are usually extraordinarily conservative. They are also well-known stress proteins that are involved in response to physical, chemical and biological stresses. HSP70 is an important member of the HSPs family. In order to study the roles of amphibians HSP70 during infection, the cDNA sequence of Rana amurensis hsp70 family genes were cloned by homologous cloning method. The sequence characteristics, three-dimensional structure and genetic relationship of Ra-hsp70s were analyzed by bioinformatics methods. The expression profiles under bacterial infection were also analyzed by real-time quantitative PCR (qRT-PCR). Expression and localization of HSP70 protein were tested by immunohistochemical techniques. The results showed that three conservative tag sequences of HSP70 family, HSPA5, HSPA8 and HSPA13, were found in HSP70. Phylogenetic tree analysis indicated four members are distributed in four different branches, and members with the same subcellular localization motif are distributed in the same branch. The relative expression levels of the mRNA of four members were all significantly upregulated (P < 0.01) upon infection, but the time for up-regulating the expression levels were diverse in different tissues. The immunohistochemical analysis showed that HSP70 was expressed to different degrees in the cytoplasm of liver, kidney, skin and stomach tissue. The four members of Ra-hsp70 family have ability to respond bacterial infection to varying degrees. Therefore, it was proposed that they are involved in biological processes against pathogen and play different biological functions. The study provides a theoretical basis for functional studies of HSP70 gene in amphibians.
Heat-Shock Proteins/genetics* ; Phylogeny ; Amino Acid Sequence ; HSP70 Heat-Shock Proteins/metabolism* ; Stress, Physiological

Adiponectin receptor 1 (AdipoR1) and Adiponectin receptor 2 (AdipoR2) can bind to adiponectin (AdipoQ) secreted by adipose tissue to participate in various physiological functions of the body. In order to explore the role of AdipoR1 and AdipoR2 in amphibians infected by Aeromonas hydrophila (Ah), the genes adipor1 and adipor2 of Rana dybowskii were cloned by reverse transcription-polymerase chain reaction (RT-PCR) and analyzed by bioinformatics. The tissue expression difference of adipor1 and adipor2 was analyzed by real-time fluorescence quantitative polymerase chain reaction (qRT-PCR), and an inflammatory model of R. dybowskii infected by Ah was constructed. The histopathological changes were observed by hematoxylin-eosin staining (HE staining); the expression profiles of adipor1 and adipor2 after infection were dynamically detected by qRT-PCR and Western blotting. The results show that AdipoR1 and AdipoR2 are cell membrane proteins with seven transmembrane domains. Phylogenetic tree also shows that AdipoR1 and AdipoR2 cluster with the amphibians in the same branch. qRT-PCR and Western blotting results show that adipor1 and adipor2 were up-regulated at different levels of transcription and translation upon Ah infection, but the response time and level were different. It is speculated that AdipoR1 and AdipoR2 participate in the process of bacterial immune response, providing a basis for further exploring the biological functions of AdipoR1 and AdipoR2 in amphibians.
Animals ; Receptors, Adiponectin/metabolism* ; Phylogeny ; Adiponectin/metabolism* ; Cloning, Molecular ; Ranidae/genetics*

Objective:To formulate the Nursing standards of clinical practice of critical care ultrasonography (referred to as the Standards), so as to provide recommendations for the application of ultrasound in intensive care nursing practice. Methods:Based on the experience of intensive care ultrasound nursing practice and literature research, combined with the consensus recommendations of intensive care ultrasound, the critical care ultrasound study group formed the first draft of the Standards. After expert interview, consensus discussion, two rounds of Delphi expert letter consultation and other methods, the content of the Standards was revised and improved, and the final draft of the Standards was formed. Results:The Standards included four parts, such as basic application of intensive care ultrasound, nursing evaluation standard of intensive care ultrasound guidance, nursing operation process guided by ultrasound and intensive care ultrasound training. Conclusions:The establishment of Standards is scientific and practical, which can provide guidance for nursing practice of clinical operation technology of critical care ultrasonography.

Leptin receptor overlapping transcript (LepROT) plays multiple roles in the regulation of immune systems. However, very little information is available about the anti-infectious mechanisms of amphibians LepROT. In this study, the cDNA sequence of the Rana dybowskii LepROT gene was determined by using RT-PCR and bioinformatics analysis. Then, the Aeromonas hydrophila (Ah) and lipopolysaccharides (LPS) infected models of R. dybowskii was constructed to obtain histopathological characteristics. Constitutive expression of LepROT mRNA and NF-κB signaling pathway were detected by real-time quantitative PCR. The full-length cDNA of LepROT gene was 396 bp and encoded 131 amino acids. Amino acid sequence analysis revealed LepROT shares 93.74% and 86.39% identity with homologues from other amphibians and mammals respectively, and the LepROT gene was quite conserved among different species. After infection, the relative expression levels of LepROT, NF-κB, IKKα and IKKβ mRNA were all significantly upregulated (P < 0.01), but showed a diverse temporal pattern of up-regulation in different tissues. Therefore, it was proposed that the LepROT gene of R. dybowskii might activate the NF-κB signaling pathway to exert anti-infectious effects, thus providing evidence for further extending the biological function of LepROT.
Animals ; Cloning, Molecular ; DNA, Complementary ; Gene Expression Profiling ; Gene Expression Regulation ; Mammals/metabolism* ; NF-kappa B/genetics* ; Phylogeny ; RNA, Messenger/genetics* ; Ranidae/genetics*

Objective:To propose a strategy for detecting early gastric cancer (EGC) under high-definition gastroscopy.Methods:Data of 469 lesions of EGC or high grade intraepithelial neoplasia (HGIN) confirmed by pathology detected at The Seventh Medical Center of Chinese People′s Liberation Army General Hospital from January 2013 to January 2020 were collected and gastroscopic images were re-interpreted. The Helicobacter pylori ( HP) infection status, lesion location in the area of atrophy or at the cardia, morphological type of lesions, lesions with/without clear or regular boundary, and lesion color were analyzed for morphological characteristics of EGC and HGIN under high-definition gastroscopy. Results:Among the 469 lesions of EGC or HGIN, HP-negative lesions accounted for 2.1% (10/469) and ulcerative lesions for 7.7% (36/469). Among non-ulcerative lesions of suspected HP infection ( n=423), there were 28 lesions in the cardia outside the atrophic area and 82.1% (23/28) were reddish under white light imaging. There were 29 non-cardiac lesions outside the atrophic area and 82.8% (24/29) were white or showed clear border under white light imaging. Inside the atrophic area, there were 73 elevated lesions, 95.9% (70/73) of which had clear border or irregular depression on the top. There were 293 flat/depressed lesions in the atrophic area, and 90.8% (266/293) had irregular border or were brown under narrow band imaging. Conclusion:According to the status of HP infection, the location and morphological category of lesions, above endoscopic features can be used as clues to detect EGC and HGIN.

Objective:To evaluate the effect of hierarchical diagnosis and treatment model of childhood bronchial asthma in Shanghai Pudong New Area.Methods:According to the principle of proximity, children aged 6 months-17 years who were diagnosed with bronchial asthma at Shanghai Children′s Medical Center from July 2016 to May 2017 were divided into two cohorts: the specialized hospital group and the community hospital group.Twelve months of treatment and follow-up were conducted.The asthma control level, Childhood Asthma Control Test (C-ACT) score, medication adherence and health economic indicators were collected.Results:A total of 524 children were included for data analysis and divided into the specialized hospital group (300 cases) and the community hospital group (224 cases). According to the Global Initiative for Asthma(GINA) criteria, there was no statistical difference in monthly asthma control level between the two groups (all P>0.05). In the 12 th month, the well-controlled rate of the specialized hospital group increased by 12.4% ( P<0.01), and that of the community hospital group increased by 22.9% ( P= 0.015). According to the C-ACT criteria, there was no statistical difference in the monthly well-controlled rate between the two groups (all P>0.05), and the rate maintained an upward trend.The rates of patients with good compliance in the specialized hospital group and the community hospital group at the 12 th month of hierarchical diagnosis and treatment were 78.3%(235/300 cases) and 75.0%(168/224 cases), respectively, and the difference was not statistically significant ( P=0.370). After 12 months of hierarchical diagnosis and treatment, the number of asthma attacks were 1.0 and 2.0 ( P=0.269), and the hospitalization rates for asthma were 3.0%(9/300 cases) and 4.9%(11/224 cases), respectively in the specialized hospital group and the community hospital group, and the diffe-rence was not statistically significant ( P=0.259); the number of respiratory infections in the specialized hospital group (2.0 times) was lower than that in the community hospital group (3.0 times), and the total cost of treatment in the community hospital group (2 471.5 Yuan) was lower than that in the specialized hospital group (3 445.5 Yuan), and the difference was statistically significant ( Z=-3.308, -3.336, all P<0.01). Twelve months after hierarchical diagnosis and treatment, the number of asthma attacks, the number of respiratory infections and the hospitalization rate for asthma in the two groups were all lower than those in the first 12 months of hierarchical diagnosis and treatment, and the difference was statistically significant (all P<0.01). Conclusions:Hierarchical diagnosis and treatment model of childhood asthma in Shanghai Pudong New Area can improve asthma control level, C-ACT score and asthma medication adherence, and enhance health economic benefits, thus it′s an effective way to manage childhood asthma.