This article reported a typical case of paroxysmal kinesigenic dyskinesia(PKD).The patient was a 26-year-old female with a medical history of 10 years.The patient manifested as paroxysmal choreoathetosis of the limb and head triggered by sudden movement in a quiet state,without sensory aura.The symptoms resolved spontaneously after tens of seconds.She was conscious during and between attacks,had a clear family history and a normal neurological examination.No abnormalities were found in brain magnetic resonance image and electroencephalogram.Genetic test showed a frame-shift mutation of c.776del in PRRT2 gene of the proband and her father with similar phenotype.The patient was diagnosed with PKD according to the diagnostic criteria for PKD.The symptoms were significantly relieved after one month of oxcarbazepine treatment with good prognosis.PKD is a rare movement disorder.The patient has typical symptoms,and the mutation site has not been reported in the Human Gene Mutation Database.Therefore,this article enriched the pathogenic gene mutation spectrum of PKD,provided a basis for genetic counseling of PKD and increased the awareness of this rare disease among physicians.

Objective:To evaluate the clinical efficacy of non-invasive high-frequency oscillatory ventilation (nHFOV) and nasal continuous positive airway pressure ventilation (nCPAP) as transitional breathing modes after evacuation from invasive ventilation in neonatal respiratory distress syndrome (NRDS).Methods:A randomized controlled trial was conducted using PubMed, Cochrane Library, Embase, China National Knowledge Infrastructure (CNKI), Wanfang, and VIP databases to search for all published literature before July 2022 on the treatment of NRDS with nHFOV and/or nCPAP after invasive ventilation and weaning. We compared the success rates of the evacuation , as well as the incidence of pneumothorax, bronchopulmonary dysplasia, and intraventricular hemorrhage between the nHFOV group and the nCPAP group in newborns who underwent invasive ventilation with NRDS.Results:A total of 7 randomized controlled studies were included, including 598 newborns diagnosed with NRDS who underwent tracheal intubation mechanical ventilation. The success rates of evacuating invasive ventilators for children in the nHFOV and nCPAP groups included in the article were calculated. The success rates of evacuating invasive ventilators for children in the two groups were 88.5%(231/261) and 66.5%(171/257), respectively. Compared with the nCPAP group, the success rate of evacuating invasive ventilators for children with NRDS in the nHFOV group was higher ( OR=3.93, 95% CI: 2.47-6.23, P<0.001). However, there was no statistically significant difference in the incidence of bronchopulmonary dysplasia, intraventricular hemorrhage, and pneumothorax between the two groups after weaning (all P>0.05). Conclusions:After weaning NRDS patients with invasive ventilation, nHFOV has a higher success rate in weaning compared to nCPAP, which is worthy of clinical application.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

OBJECTIVE To evaluate the global cancer-associated thromboembolism risk assessment tools based on evidence- based methods， and to provide methodological reference and evidence-based basis for constructing a specific tool in China. METHODS A comprehensive search was conducted on 6 databases， including CNKI， Wanfang data， VIP， CBM， PubMed， and Embase， as well as on the websites of NCCN， ASCO， ESMO and so on with a deadline of June 30， 2022. Furthermore， a supplementary search was conducted in January 2023. The essential characteristics and methodological quality of included risk assessment tools were described and analyzed qualitatively， focusing on comparing each assessment stratification ability. RESULTS Totally 14 risk assessment tools were included in the study， with a sample size of 208-18 956 cases and an average age distribution of 53.1-74.0 years. The applicable population included outpatient cancer student@sina.com patients， lymphoma patients， and multiple myeloma patients，etc. The common predictive factors were body mass index， venous thromboembolism history， and tumor site. All tools had undergone methodological validation， with 9 presented in a weighted scoring format. Only seven tools were used simultaneously for specificity， sensitivity， negative predictive value （NPV）， positive predictive value （PPV） and area under the curve （AUC） or C statistical analysis. CONCLUSIONS The risk of bias in constructing existing tools is high， and the heterogeneity of tool validation results is significant. The overall methodological quality must be improved， and its risk stratification ability must also be investigated. There are still certain limitations in clinical practice in China.

Objective:To investigate the current situation of the use of transjugular intrahepatic portosystemic shunt (TIPS) for portal hypertension, which should aid the development of TIPS in China.Methods:The China Portal Hypertension Alliance (CHESS) initiated this study that comprehensively investigated the basic situation of TIPS for portal hypertension in China through network research. The survey included the following: the number of surgical cases, main indications, the development of Early-TIPS, TIPS for portal vein cavernous transformation, collateral circulation embolization, intraoperative portal pressure gradient measurement, commonly used stent types, conventional anticoagulation and time, postoperative follow-up, obstacles, and the application of domestic instruments.Results:According to the survey, a total of 13 527 TIPS operations were carried out in 545 hospitals participating in the survey in 2021, and 94.1% of the hospital had the habit of routine follow-up after TIPS. Most hospitals believed that the main indications of TIPS were the control of acute bleeding (42.6%) and the prevention of rebleeding (40.7%). 48.1% of the teams carried out early or priority TIPS, 53.0% of the teams carried out TIPS for the cavernous transformation of the portal vein, and 81.0% chose routine embolization of collateral circulation during operation. Most of them used coils and biological glue as embolic materials, and 78.5% of the team routinely performed intraoperative portal pressure gradient measurements. In selecting TIPS stents, 57.1% of the hospitals woulel choose Viator-specific stents, 57.2% woulel choose conventional anticoagulation after TIPS, and the duration of anticoagulation was between 3-6 months (55.4%). The limitation of TIPS surgery was mainly due to cost (72.3%) and insufficient understanding of doctors in related departments (77.4%). Most teams accepted the domestic instruments used in TIPS (92.7%).Conclusions:This survey shows that TIPS treatment is an essential part of treating portal hypertension in China. The total number of TIPS cases is far from that of patients with portal hypertension. In the future, it is still necessary to popularize TIPS technology and further standardize surgical indications, routine operations, and instrument application.

Objective:To explore the early neurodevelopmental features of young children with SYNGAP1 variants and their genotype-phenotype correlation. Methods:Young children with neurodevelopmental disorders (NDDs) (< 5 years old) who were referred to the Children′s Hospital Affiliated to the Capital Institute of Pediatrics between January 2019 and July 2022 were selected as the study subjects. All children had undergone whole-exome sequencing, comprehensive pediatric neuropsychological assessment, familial segregation analysis, and pathogenicity classification. Meanwhile, young Chinese NDD children (< 5 years old) with pathogenic/likely pathogenic SYNGAP1 variants were retrieved from the literature, with information including detailed clinical and genetic testing, neurodevelopmental quotient (DQ) of the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). Children who did not have a detailed DQ but had their developmental status assessed by a medical professional were also included. The correlation between neurodevelopmental severity, comorbidity and SYNGAP1 variants were summarized. Results:Four young NDD children carrying SYNGAP1 variants were recruited (1 male and 3 females, with a mean age of 34.0 ± 18.2 months), among whom one harboring a novel variant (c.437C>G, p. S146*). Combined with 19 similar cases retrieved from the literature, 23 Chinese NDD young children were included in our study (8 males and 10 females, 5 with unknown sex, with a mean age of 37.1 ± 14.2 months). A loss of function (LOF) variant was found in 19 (82.6%) children. All of the children had presented global developmental delay (GDD) before the age of two. In addition, 16 (69.6%) had seizure/epilepsy at the age of 27.0 ± 12.1 months, among whom 15 had occurred independent of the global developmental delay. Myoclonic and absence were common types of seizures. Compared with those with variants of exons 8 to 15, the severity of developmental delay was milder among children with variants in exons 1 to 5. Conclusion:The early neurodevelopment features of the SYNGAP1 variants for young children (< 5 years old) have included global developmental delay and seizure/epilepsy. All of the children may present GDD before the age of two. The severity of developmental delay may be related to the type and location of the SYNGAP1 variants.

Objective:To investigate the expression of microRNA-34a (miR-34a)and tumor necrosis factor-α (TNF-α) in lung injury induced by lipopolysaccharides (LPS) in neonatal rats with acute respiratory distress syndrome (ARDS). The expression of mirna-34a and tumor necrosis factor-α (TNF-α) in lung injury induced by lipopolysaccharides (LPS) was determined by tumor necrosis factor.Methods:A total of 80 7-day-old newborn SD rats were randomly(random number) divided into two groups, 40 in each group, NARDS animal models were established by intraperitoneal injection of 4 mg/kg LPS solution for 3,6,12 and 24 hours respectively. Normal control group was established by intraperitoneal injection of 4 mL/kg isotonic Nacl solution. The wet/dry weight ratio of lung was measured to observe the changes of lung histopathology. The expression of miR-34a in lung tissues and cells was detected by quantitative real-time PCR (qrt-PCR).Results:the wet/dry weight of lung in the experimental group was significantly higher than that in the control group. Hematoxylin-eosin (HE) staining showed diffuse changes in lung tissue, thickening of alveolar septum, partial alveolar fusion and decreased number of alveoli in experimental group. The expression levels of miR-34a and TNF-α in the experimental group were higher than those in the control group at each time point.Conclusions:It is speculated that miR-34a can promote the release of more inflammatory factors by positively regulating the expression of TNF-α, thus affecting the occurrence and development of lung injury. The expression of miR-34a positively correlated with TNF-α. miR-34a may affect the regulation mechanism of lung injury by mediating the expression of TNF-α through some signal pathway or inflammatory reaction, it provides a new therapeutic target for the treatment of neonatal acute respiratory distress syndrome (NARDS).

Objective To evaluate the ability of average nucleotide identity(ANI)and 16S rDNA technology on the identification of Salmonella.Methods The genomes and corresponding serovars of global Salmonella were downloaded in batch from the GenBank database.The classical strains of Salmonella were used as typing strains.The ANI analysis was conducted by the fastANI software according to the silent parameters.The species and serovars of Salmonella were identified by their 16S rDNA using the online software SpeciesFinder.Results Among the downloaded 2 306 genomes,1 767 strains of Salmonella had 178 serovars,with 323 strains(18.3%)of Salmonella Typhimurium and 300 strains(17.0%)of Salmonella Enteritidis being the most common.The ANI analysis showed that with a 95%threshold,only 30 strains(1.3%)of Salmonella were assigned to a specific subspecies,while the remaining 2 276 strains(98.7%)of Salmonella could be assigned to 2-5 subspecies.When the threshold was 97%,all 2 306 strains(100%)of Salmonella could be assigned to a specific subspecies.Based on the analysis of 16S rDNA,only 1 072 strains(46.5%)of Salmonella were identified,of which 95.2%(1 021/1 072)of Salmonella subspecies were completely consistent with the results of ANI(≥97%)analysis.Only 2.4%(19/784)of Salmonella strains showed consistent results with known serovars.Conclusion ANI is more suitable for the identification of Salmonella species and subspecies,and ANI≥97%can be used as the identification standard for Salmonella subspecies.The sensitivity of 16S rDNA for the identification of Salmonella still needs to be improved.

Objective To analyze the prevalence and molecular characteristics of global Salmonella Typhimurium.Method The ge-nome and the corresponding serovars as well as meta-information of global Salmonella were downloaded in batch from the National Cen-ter for Biotechnology Information(NCBI)database using the online softwares,ResFinder,PlasmidFinder,Mobile Element Finder and MLST,to analyze the distribution of antibiotic resistant genes(ARGs),plasmids,mobile genetic elements(MGEs)and the sequence types(STs)among S.Typhimurium strains.Results A total of 101 ARGs were detected in 323 strains of S.Typhimurium,among which the most common was aac(6')-Iaa(322/323,99.69％),followed by sul2(155/323,47.99％),aph(3")-Ib(128/323,39.63％),aph(6)-Id(127/323,39.32％),tet(B)(109/323,33.75％),and blaTEM-1B(106/323,32.82％).Totally,36 plasmids were identified,among which IncFⅡ(S)(110/323,34.06％)and IncFⅠB(S)(108/323,33.44％)were the most common.Moreo-ver,376 MGEs were found,including 367 insertion sequences and nine transposons,among which MITEEc1(322/323,99.69％)and ISSen1(308/323,95.36％)were the most popular.Furthermore,323 strains of S.Typhimurium were assigned into 32 different STs,a-mong which,ST19(157/323,48.61％)and ST34(105/323,32.51％)were the most common accounting for over 82％.Among 115 strains of S.Typhimurium from human,18 STs were identified including ST19(52/115,45.22％)and ST34(39/115,33.91％)which were the most common.Conclusion S.Typhimurium carried multiple types of ARGs,in addition to the wide distribution of a large number of insertion sequences and plasmids,whch provide favorable conditions for the spread of drug resistance.Therefore,the meas-ures of prevention and control against the infection from this bacterium should be strengthened.

Abstract Allergic diseases can occur in all systems of the body, covering the whole life cycle, from children to adults and to old age, can be lifelong onset and even fatal in severe cases. Children account for the largest proportion of the victims of allergic disease, Children s allergies start from scratch, ranging from mild to severe, from less to more, from single to multiple systems and systemic performance, so the prevention and treatment of allergic diseases in children is of great importance, which can not only prevent high risk allergic conditions from developing into allergic diseases, but also further block the process of allergy. At present, there is no consensus on the management system of allergic children in kindergartens and primary schools. The "Consensus on Allergy Management and Prevention in Kindergartens and Primary Schools", which includes the organizational structure, system construction and management of allergic children, provides evidence informed recommendations for the long term comprehensive management of allergic children in kindergartens and primary schools, and provides a basis for the establishment of the prevention system for allergic children.