Objective:To construct a representative index system for evaluating pediatric orthopedic nursing quality, providing a basis for hospital pediatric orthopedic nursing quality assessment and monitoring.Methods:From April to July 2023, using the "structure-process-outcome" three-dimensional quality structure model as the theoretical framework, a literature review was conducted, and an item pool was formulated. Through two rounds of Delphi method expert consultations, the hierarchical analysis method was finally employed to determine the indicators and their weights at each level.Results:The effective recovery rates of the questionnaire of the two rounds of expert consultations were 100% (20/20), the authority coefficients of experts were 0.87 and 0.88, the coefficients of variation were 0.00 to 0.27 and 0.00 to 0.24. The Kendell harmony coefficients of the second and third indicators in the two rounds of inquiry were 0.140, 0.166 and 0.192, 0.161(all P<0.05). The final pediatric orthopedic nursing quality evaluation index system included 3 primary indicators, 21 secondary indicators and 83 tertiary indicators. Among the primary indicators, the weight of process quality was the highest at 0.493 4, followed by outcome quality at 0.310 8, and the lowest was structural quality at 0.195 8. In the secondary indicators, "assessment criteria of limb blood circulation" had the highest weight at 0.099 8. Conclusions:The constructed pediatric orthopedic nursing quality evaluation index system covers key aspects and is more operationally feasible. It provides better guidance for nursing interventions and quality control.

【Objective】 To establish a paper-free system of the total whole blood donation flow in constructing intelligent blood stations, and build digitalized whole blood donation system for practice. 【Methods】 A paper-free whole blood collection system was constructed through information process reforming, system frame designing and data network transportation constructing, and was applied in various blood donation scenario. 【Results】 Fixed blood collection sites carried out 49 063 donations via paper-free information system from November 2022 to July 2023, and 24 822 donations( group blood donation) were conducted via paper-free system from April to July 2022. Compared with the traditional paper-based model, paper-free system is safer, more standardized and more convenient, effectively enhancing the experience of blood donors. 【Conclusion】 The construction of paper-free whole blood collection system effectively enhances the experience of blood donors, improves the safety, accuracy, traceability of the data, and has good social value and economic value, which is worth popularizing.

Solanum lycopersicum phenylalanine ammonia-lyase 5 (SlPAL5) gene regulates the metabolism of phenolic compounds. The study of transcription factors that regulate the expression of SlPAL5 gene is of great significance to elucidate the regulatory mechanism underlying the biosynthesis of phenolic compounds in tomato fruit induced by UV-C irradiation. Here, yeast one-hybrid library of tomato fruit was constructed, and the yeast one-hybrid technology was used to screen the transcription factors that regulate the expression of SlPAL5, the key gene related to the synthesis of phenolic compounds in tomato fruit. As a result, a transcription factor, SlERF7, was obtained and sequenced, followed by the blast homology analysis. Further experiments confirmed that SlERF7 interacted with the promoter of SlPAL5 gene. In addition, UV-C irradiation significantly increased the expression level of SlERF7. These results indicate that SlERF7, which is regulated by UV-C irradiation, might be involved in regulating the transcription of SlPAL5, which provided foundations for further studying the regulation mechanism of the biosynthesis of phenolic compounds in tomato fruit induced by UV-C irradiation.
Fruit ; Gene Expression Regulation, Plant ; Lycopersicon esculentum/metabolism* ; Phenols ; Plant Proteins/metabolism* ; Transcription Factors/metabolism*

Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals. Here, we present MosaicBase, a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals. Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications. MosaicBase supports the query of variants with Online Mendelian Inheritance in Man (OMIM) entries, genomic coordinates, gene symbols, or Entrez IDs. We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region. By analyzing the variants collected in MosaicBase, we find that mosaic variants that directlycontribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes, in terms of their genomic distribution, mutation signatures, and fraction of mutant cells. MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population. MosaicBase is publicly available at http://mosaicbase.com/ or http://49.4.21.8:8000.

The mammalian central nervous system (CNS) is considered an immune privileged system as it is separated from the periphery by the blood brain barrier (BBB). Yet, immune functions have been postulated to heavily influence the functional state of the CNS, especially after injury or during neurodegeneration. There is controversy regarding whether adaptive immune responses are beneficial or detrimental to CNS injury repair. In this study, we utilized immunocompromised SCID mice and subjected them to spinal cord injury (SCI). We analyzed motor function, electrophysiology, histochemistry, and performed unbiased RNA-sequencing. SCID mice displayed improved CNS functional recovery compared to WT mice after SCI. Weighted gene-coexpression network analysis (WGCNA) of spinal cord transcriptomes revealed that SCID mice had reduced expression of immune function-related genes and heightened expression of neural transmission-related genes after SCI, which was confirmed by immunohistochemical analysis and was consistent with better functional recovery. Transcriptomic analyses also indicated heightened expression of neurotransmission-related genes before injury in SCID mice, suggesting that a steady state of immune-deficiency potentially led to CNS hyper-connectivity. Consequently, SCID mice without injury demonstrated worse performance in Morris water maze test. Taken together, not only reduced inflammation after injury but also dampened steady-state immune function without injury heightened the neurotransmission program, resulting in better or worse behavioral outcomes respectively. This study revealed the intricate relationship between immune and nervous systems, raising the possibility for therapeutic manipulation of neural function via immune modulation.

Objective To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT)Methods The clinical data of 2 patients with congenital myasthenia syndrome were collected,and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital,Capital Medical University.The clinical features and gene mutation characteristics were analyzed,and the patients were followed-up for therapeutic efficacy.Results The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively.The two patients were admitted to the PICU due to dyspnea,cyanotic episodes that required intubation.The patients had repeated apnea and became ventilator dependent.Case 1 died due to refusal of any treatment.Case 2 had a tracheotomy,and gradually weaned from ventilator after using pyridostigmine.The hospitalization of case 2 lasted 162 days.Case 2 was followed up to the age of 3 years and 4 months,and was extubated and was maintained on oral neostigmine but still had fluctuating ptosis and minor physical and mental retardation.Both cases were negative for anti-AChR,anti-acetylcholinesterase,anti-MuSK antibodies.Neostigmine test was negative in case 1 and suspiciously positive in case 2.Low-frequency repetitive nerve stimulation testing of case 2 was negative.Cranial MRI scans of both cases showed brain atrophy-like change.Genetic testing showed compound heterozygous deletions (exon 4,5,6) and pathogenic variant c.914T＞C (p.I305T) in CHAT in case 1,compound heterozygous variants c.1007T＞C (p.I336T) and c.64C＞T (p.Q22X) in CHAT in case 2.To our knowledge,compound heterozygous deletions (exon 4,5,6) and p.Q22X were novel,previously unreported variants.Conclusion CMS-EA usually presents at birth or in the neonatal period with hypotonia,ptosis,dysphagia due to severe bulbar weakness,and respiratory insufficiency with cyanosis and apnea.Early treatment with pyridostigmine is helpful to the improvement of clinical symptoms and prognosis.

BACKGROUND: There are various kinds of design methods about preoperative osteotomy of ankylosing spondylitis with kyphosis, but each has their own errors and limitations. A convenient, precise and available method needs to bedeveloped.OBJECTIVE: To compare the clinical efficacy of two different preoperative osteotomy designs using paper-cut andphotoshop software for ankylosing spondylitis with kyphosis.METHODS: Thirty-nine patients suffering ankylosing spondylitis with kyphosis undergoing osteotomy in the Departmentof Spinal Surgery, Affiliated Hospital of Yan'an University between June 2009 and January 2015 were enrolled, andrandomly allotted to paper-cut (n=19) and photoshop (n=20) groups, followed by the preoperative osteotomy design,respectively. All patients were followed for 12-40 months to compare the postoperative osteotomy angle error andcorrection efficacy at the last follow-up between groups.RESULTS AND CONCLUSION: (1) The postoperative osteotomy angle error in the photoshop group was significantly smaller than that in the paper-cut group (P < 0.05). (2) At the last follow-up, the key parameters of sagittal spine and pelvis (sagittal vertical axis, Cobb angle and pelvic tilt) showed significant differences between groups (P < 0.05). (3) The Oswestry disability index and Scoliosis Research Society-22 questionnaire scores in the photoshop group weresignificantly superior to those in the paper-cut group at the last follow-up (P < 0.05), while the visual analog scale scoresdid not differ significantly between groups (P > 0.05). (4) To conclude, compared with the osteotomy design usingtraditional paper-cut splice, the photoshop software can achieve a smaller osteotomy angle error and better postoperative balance of spinal sagittal plane, thus providing precise osteotomy for surgeons to obtain proper correction.

We investigated the pathogen of an outbreak of lung infection with unknown causes.By epidemiological analysis,we used real-time PCR,ELISA,gold dipstick,VITEK2 and MALDI-TOF-MS to identify suspicious bacteria.We made use of serum plate agglutination test to confirm the suspicious bacteria and the patient serum.We isolated 2 strains of Cryptococcus albidus from environmental samples.There has been specific agglutination between suspicious bacteria and patient serum.This pneumonia may be related to the infection of Ccryptococcus albidus.

Some new types of microemulsion using phospholipids as the main surfactant were prepared for electrokinetic chromatography and the quantitative structure-retention relationship of neutral solutes in these microemulsion electrokinetic chromatography (MEEKC) systems was studied by solvation parameters model.By using dynamic coating capillary, and with dimethyl sulfoxide (DMSO) and dodecyl benzene as the marker of electroosmotic flow and microemulsion droplets, a total of 17 kinds of stable microemulsions containing soybean phospholipids or other surfactants were prepared and the linear salvation energy relationship equations were developed for these MEEKC systems with 26 small neutral compounds.The coefficients of linear solvation energy relationship (LSER) equations were used to evaluate the similarity of two MEEKC systems.Results indicated that LSER characteristics of phospholipids-MEEKC systems were similar to those of other microemulsion systems.The volume and hydrogen bond basicity of solutes were mostly contributed to the retention in MEEKC.The different types and concentration of oil phase had no evident influence on the retention.

Objective To investigate the inhibition mechanism of tetramethylpyrazine combined with cisplatin on angiogenesis in Lewis lung cancer mice and to observe the mechanism of Arresten on angiogenesis in lung cancer. Methods The model of Lewis lung adenocarcinoma mouse xenograft was established in this work, and 40 mice were randomly divided into 4 groups: 0.9% sodium chloride solution group(NS group), tetramethylpyrazine group(TMP group), cisplatin group(DDP group), tetramethylpyrazine plus cisplatin group(TMP + DDP group), 10 mice in each group.Mice in NS group were given 0.2 mL of 0.9% sodium chloride solution, mice in DDP group were given 0.2 mL of 2 mg.kg-1 of cisplatin, mice in TMP group were given 0.2 mL of 100 mg.kg-1 of tetramethylpyrazine, mice in TMP+DDP group were given 2 mg.kg-1 of cisplatin and 100 mg.kg-1 of tetramethylpyrazine, each 0.1 mL .Tumor size was measured every day to calculate the tumor volume.The mice were sacrificed to stripp the subcutaneous tumor after continuous medication. The expressions of Arresten, integrin α1β1 and VEGF were determinated by immunhistochemistry and Western blotting. Results The tumor growth of NS group was the fastest and TMP+DDP group was the slowest. Compared with NS group, the expression of Arresten in the other three groups was increased( P<0.01) , and the TMP+DDP group exhibited the highest expression;at the same time, integrin α1β1 , VEGF in the other three groups was decreased(P<0.01), and the TMP+DDP group exhibited the lowest expression.The expression of integrinα1β1 and VEGF was negatively related to Arresten, and the expression of integrin α1β1 was positively correlated with VEGF. Conclusion TMP can inhibited the growth of Lewis lung carcinoma and angiogenesis. Moreover, in combination with cisplatin, TMP can also improved the effect of chemotherapy and then the survival state of mice. The mechanism of action, which TMP suppress tumor angiogenesis may be through improving Arresten and inhibiting integrin α1β1 and VEGF. And the action mechanism of Arresten may be implemented by inhibiting the expression of VEGF by incorporation with integrinα1β1 or by itself to inhibit the expression of VEGF.