Objective To investigate the changes of nitric oxide content and inducible nitric oxide synthase (iNOS) activity in rat brain tissues after explosive craniocerebral wound and observe the influence of emodin on these changes. Methods After rats were subjected to electric detonators, emodin (10 mg/kg) was injected intraperitoneally at 10 minutes. Water content of brain tissues was measured by using dry-wet methods. The content of nitric oxide and the activity of iNOS were measured at 2, 4, 12 and 24 hours respectively after wound by means of nitrade reductase and colorimctrie method. Results The content of nitric oxide and the activity of iNOS kept at a high level (P<0.01). The content of nitric oxide and the activity of iNOS in model group were increased significantly and reached peak at 2 hours after wound. While the content of nitric oxide and the activity of iNOS in emodin group were significantly lower than that in model group (P<0.01). Conclusion Emodin plays a role in decreasing water content of brain tissues and inhibiting activity of iNOS and may exert a protective effect on brain injury during pathological course after explosive craniocerebral wound.

To observe the influence of neuregulin-1 on the cardiac function of post-myocardial infarction rats. Methods Left ventricular MI was created in Sprague-Dawley rats by ligation of the left anterior descending coronary. Six months after the operation, rats were evaluated with echocardiology methods. 36 rats that had an infarct area and a EF around 60% were randomized into 3 groups: MI group(n=12) were injected a blank vehicle fluid intravenously for 5 days, after which they continued to be raised on standard food and water for 30 days. MI+NRG group(n=12), received NRG-110μg·kg-1 intravenously for 5 days, after which they continued to be raised on standard food and water for 30 days. MI+Capt group (n=12) received captopril orally (dissolved in their drinking water 2g/L) for 30days, after which tap water substituted the solution for 5 days. Final echocardiographic and hemodynamic measurements were made at the end of 1 month of therapy. Total RNA was extracted from frozen left ventricular tissues, and was reverse transcribed into firststrand PCR was performed with primers for BNP、 ANP. Results Rats treated with neuregulin had a smaller LVDs (P=0.014), a betterLVEF (P=0.004),and a tendency towards less lung perfusion than untreated rats. Neuregulin decreased the expression of ANP mRNA in the ventricle (P=0.025).Conclusion Neuregulin markedly improved the cardiac function of rats that survived myocardial infarction,and decreased the expression of ANP mRNA in the ventricle.

Objective To analyze the clinical data and TUBB4A mutation of hypomyelination with atrophy of the basal ganglia and cerebellum (HABC)in a family,thus to provide accurate genetic counseling and prenatal diagno-sis for this family with HABC,and also to provide clinical experience for the diagnosis of HABC in China.Methods The clinical data of the proband and her family members were collected at the Department of Pediatrics,Peking Univer-sity First Hospital,December 201 4,including medical history,physical signs,and brain MRI,biochemical tests and metabolic disease screening.The associated gene of hereditary leukoencephalopathy was screened for the proband and her family members were screened by targeting -high -throughput sequencing technology,and then the genetic varia-tions were verified by Sanger sequencing.With those detection methods,the gene mutation was confirmed,and then ge-netic features were analyzed.Results Clinical features were as follows:nystagmus as the first symptom,and motor and mental retardation,dystonia and ataxia followed.Brain MRI indicated hypomyelination of white matter and atrophy of the basal ganglia and cerebellum.The clinical diagnosis of HABC was established based on the clinical features and brain MRI features above.Genetics features showed that one novel TUBB4A c.974G >T heterozygous missense muta-tion was found from the proband,which caused an amino acid change from the Trp into Leu (p.Trp325Leu).Both of her parents with normal phenotype were of wild -type in this site.Conclusions The proband from this family was diagnosed clinically based on her clinical data.One novel TUBB4Ac.974G > T (p.Trp325Leu)was founded in this study.Therefore,the spectrum of TUBB4A mutation will be expanded.In addition,this study elucidated clinical and genetic characteristics in this family with HABC,which may lay a solid foundation for the accurate genetic counseling and prenatal diagnosis.This study reported the first case of HABC caused by TUBB4A mutation in China.

Objective To analyze the space-time characteristic of traumatic brain injury (TBI) caused by Chinese Wenchuan earthquake and discuss opportunity and mode of medical intervention. Methods A retrospective study was done on 92 patients with TBI admitted into our department during Chinese Wanchuan earthquake.Results All 92 patients came from champaign located at northwest of Chengdu. Of all, 76 patients were admitted within 12 hours after earthquake. Surgical operation Wag done on 10 patients, of whom 3 died.Conclusions In the early period after earthquake, TBI patients make a large proportion and have fast change of injury severity. All patients come from champaign with conven-ient transportation. For TBI patients, early emergent operation after admission can significantly elevate success rate of mcdical intervention.

Klebsiella pneumoniae(K.pneumoniae)is important zoonotic pathogen causing multiple local and systemic infections.At present,the drug resistance of K.pneumoniae is serious,and mul-tiple drug-resistant strains continue to emerge.Even the incidence of drug-resistant K.pneumoniae infection is increasing year by year.In this study,K.pneumoniae clinical isolate 71Y was used as the starting strain,and a phage with strong lytic activity was successfully obtained from sewage samples.The phage was named vB_KpnP_71Y(abbreviated as P71Y),the general biological char-acteristics and genome of P71Y were further studied and analyzed.P71Y can form clear plaque with a diameter of 2-5 mm and a translucent halo ring on the host bacterium 71Y lawn.Electron micros-copy observation shows that P71Y is a member of the order Autographiviridae and family Caudovi-rales.The incubation period for P71Y infected with K.pneumoniae is about 3 minutes,and one in-fection cycle lasts for about 50 minutes.Each infection of a bacterium can produce approximately 58 progeny phage virus particles.Cleavage spectra showed that the phage could lysate K20 and K57 serotypes of K.pneumoniae.The phage had good stability at 4-50 ℃ and pH values of 3-12.Genom-ic analysis revealed that P71Y contained a double-stranded DNA with a total length of 39 700 bp and a G+C content of 53％.There are a total of 53 coding genes,P71Y does not carry virulence factors and drug resistance genes,which has shown genetic safety.This study isolated a novel lytic phage that can cleave multiple serotypes of K.pneumoniae,which provided experimental materials for the study of the interaction between bacteriophages,different serotypes of K.pneumoniae,and the application of phage for the prevention and controlling of infections caused by multi-drug-re-sistant K.pneumoniae.

The basic information and clinical data of 4 Phelan-McDermid syndrome (PMS) patients in the Pediatric Outpatient Department of the Peking University First Hospital from January 2014 to October 2019 were retrospectively analyzed.Genetic diagnoses were performed using the whole exon sequencing assay.The genotype-phenotype correlation analysis was then performed.All patients presented with intellectual disability/developmental delay, especially the most-common manifestation in language disability.Patient 2 had an autism behavior.Four novel variations of the SHANK3 gene were found in this study, including the c. 2861delC p. (S955Pfs*109), c.3166delC p. (A1039Afs*39), c.3711_3723delGCCCAGCCCCCGG p. (L1241Lfs*29) and c. 2223+ 1G>A.All of them were analyzed as new pathogenic variations according to the American College of Medical Genetics and Genomics criteria.The present study expan-ded the mutant spectrum of the SHANK3 gene, which provided a basis for further accurate genetic counseling and prenatal diagnosis of PMS.

Objective:A dose verification system of two-dimensional semiconductor matrix(SRS MapCHECK)was used to verify the dose of the clinical treatment plan of patients who underwent CyberKnife(CK),which realized rapid verification for individualization of radiotherapy plans of patients through analyzed the γ-passing rates of them.Methods:A total of 253 patients with tumor who received CK clinical treatment in the First Medical Center of Chinese PLA General Hospital from March 2021 to May 2023 were selected.Among of them,121 cases received CK treatment on head,and 30 cases received that on lung,and 102 cases received CK treatment on abdomen and other metastatic tumor.In the MultiPlan treatment plan system,the plan of patient was mapped to the integrated model composed of StereoPHAN model and SRS MapCHECK matrix dose verification system by the means of the plan image center overlap.The dose verification was conducted on the plan of each patient on the basis of ensuring the consistency of the number of beam,direction of beam and the monitor unit.The different γ analysis standards(1%/1 mm,2%/1 mm,3%/1 mm,1%/2 mm,2%/2 mm,3%/2 mm,1%/3 mm,2%/3 mm and 3%/3 mm)were adopted to conduct global analysis of absolute dose for each verification plan,and the threshold(TH)of low dose was set as 10%.Results:The γ passing rates of phantom verification plans of 253 patients were respectively(88.64±5.91)%,(95.43±3.40)%,(97.90±2.06)%,(96.51±2.35)%,(98.15±1.68)%,(99.06±1.12)%,(98.30±1.39)%,(99.09±0.97)%and(99.52±0.63)%under different analysis standards.The γ passing rates of other standards of patients with tumor on different parts were larger than 95%except the analysis result of 1%1 mm standard.The overall analysis result of the deviation of central point dose was(-1.30±2.17)%,among of which the tumor of head,abdominal tumors and other metastatic tumor were about approximately-2%,while that of lung tumors were approximately-3%.The deviation of abdominal and other metastatic tumor was the minimum.The correlation analysis showed that the target volume and the size of the minimum collimator were respectively correlated to the dose deviation of the center.Conclusion:SRS MapCHECK dose verification system can conveniently and quickly realize the individualized verification for the plan of patients who receive CK treatment.

Objective: To evaluate the disinfection efficacy of peracetic acid disinfectant (type Ⅲ ) on gastrointestinal endoscopy. Methods: Endoscopes were disinfected respectively by 2% glutaraldehyde (GA group) and peracetic acid disinfectant (type Ⅲ ) (PAA group) according to the process by the 2016 version of "Regulation for cleaning and disinfection technique of flexible endoscope" , and then samples were collected through biopsy channel at the specified steps. The bacterial count and pathogenic bacteria of these samples were detected. Hepatitis B virus surface antigen (HBsAg), hepatitis C virus (HCV) antibody and Treponemia pallidum antibody (TP-Ab) were detected by chemiluminesent microparticle immunoassay (CMIA) in the PAA group. The PAA group were continuously sampled for 5 days. Results: A total of 56 gastroscopes and 16 colonoscopes were disinfected in the GA group, and 46 gastroscopes and 15 colonoscopes were disinfected in the PAA group. Compared with pre-disinfection, the bacterial count was both significantly reduced in the two groups after disinfection (P<0.05). The qualified rate of gastroscopes disinfection and total qualified rate of the PAA group were higher than those of the GA group [the qualified rate of gastroscopes: 97.83% (45/46) VS 92.86% (52/56), P>0.05; total qualified rate: 98.36% (60/61) VS 94.44% (68/72), P>0.05]. The qualified rate of colonoscopes in the two groups were both 100.00% (15/15, 16/16). After disinfecting by peracetic acid disinfectant (Type Ⅲ), HBsAg, anti-HCV and TP-Ab were negative. There were no significant differences on colonies number at different steps in a 5-day continuous sampling (P>0.05). Conclusion Peracetic acid disinfectant (type Ⅲ) can provide a satisfied disinfectant effect, and be applied in clinic to meet the requests of high-level disinfection for gastrointestinal endoscopy.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.