Objective:To explore the clinical and genetic characteristics of three children with Hyperekplexia.Methods:Three children who were diagnosed with Hyperekplexia at the Third Affiliated Hospital of Zhengzhou University between June 2018 and March 2020 were selected as the study subjects. Clinical data of the three children were collected. All children were subjected to whole exome sequencing. Pathogenicity of candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The three children were all males, and had presented exaggerated startle reflexes and generalized stiffness in response to unexpected auditory or tactile stimulation, or had frequent traumatic falls following exaggerated startle. All children had shown positive nose-tapping reflex, though EEG and cranial MRI exams were all negative. Whole exome sequencing revealed that two children had harbored homozygous variants of the GLRB gene, of which the c. 1017_c.1018insAG (p.G340Rfs*14) was unreported previously. The third child had harbored compound heterozygous variants of the GLRA1 gene, among which the c.1262T>A (p.IIe421Asn) variant showed an unreported autosomal recessive inheritance. All children had responded well to clonazepam treatment. Conclusion:Patients with Hyperekplexia have typical clinical manifestations. Early clinical identification and genetic analysis can facilitate their diagnosis.

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.

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.

OBJECTIVES: Intrauterine adhesions (IUA) is the damage of the basal layer of the endometrium caused by various reasons, resulting in adhesion of the uterine muscle walls to each other, which is manifested as clinical symptoms such as spanomenorrhea, amenorrhea, and infertility. Hysteroscopic adhesiolysis (HA) is the main treatment, for patients with moderate or severe adhesion or angular adhesion, the incidence of postoperative adhesion is high. Traditional Chinese medicine "Yangmo decoction" can promote endometrial growth. Three-dimensional transvaginal ultrasonography (3D-TVUS) can judge IUA and evaluate uterine receptivity through three-dimensional imaging. This study aims to investigate the value of 3D-TVUS in judging the efficacy of Yangmo decoction in the treatment of intrauterine adhesions. METHODS: The clinical data of patients who underwent HA at two different centers in department of Gynecology of Third Xiangya Hospital of Central South University and Changsha Jiangwan Hospital from January 2021 to August 2021 were retrospectively collected. A total of 275 eligible patients were included. According to the postoperative management measures, the selected patients were divided into two groups. Yangmo decoction group (n=138): the use of Yangmo decoction and uterine-shaped silicon stent post HA; Hormone group (n=137): the use of estrogen, progesterone and uterine-shaped silicon stent post HA. The preoperative general data, preoperative and postoperative 3D-TVUS parameters of the two groups were analyzed. RESULTS: The endometrial thickness of Yangmo decoction group was thicker than that of hormone group (P<0.001), the intercornual distance was wider (P=0.016), the endometrial echo was more homogeneous (P=0.018), the percentage of bilaterally visible tubal opening was higher (P<0.001), the endometrial morphology was better (P=0.012), and endometrial blood flow, endometrial motility and uterine motion were better in Yangmo decoction group than that in the hormone group (all P<0.001). CONCLUSIONS The endometrial thickness, echo, blood flow, and peristalsis, the number of visible tubal opening, uterine motion, and the intercornual distance obtained by 3D-TVUS examination are important factors to evaluate the prognosis of postoperative drug treatment for IUA. 3D-TVUS is of great significance in evaluating the efficacy of Yangmo decoction in the treatment of IUA.
Humans ; Retrospective Studies ; Hormones

Sea-air joint search and rescue（SAR）is an effective way for saving pilots in distress. This paper explores the characteristics and requirements of joint SAR for pilots in distress at sea，and in view of the existing problems of maritime SAR，it puts forward countermeasures to improve the sea-air joint SAR capabilities，including establishing a more efficient sea-air joint SAR mechanism，strengthening training in real combat conditions of sea-air joint SAR，and improving the capacity building of SAR special equipment.

Sea-air joint search and rescue（SAR）is an effective way for saving pilots in distress. This paper explores the characteristics and requirements of joint SAR for pilots in distress at sea，and in view of the existing problems of maritime SAR，it puts forward countermeasures to improve the sea-air joint SAR capabilities，including establishing a more efficient sea-air joint SAR mechanism，strengthening training in real combat conditions of sea-air joint SAR，and improving the capacity building of SAR special equipment.

OBJECTIVE: To explore the genetic basis for three children with Menkes disease. METHODS: The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals. RESULTS: Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2). CONCLUSION Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.
Case-Control Studies ; Child ; Copper-Transporting ATPases/genetics* ; Exons ; Family Health ; High-Throughput Nucleotide Sequencing ; Humans ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Pedigree

Objective To investigate the relation between TMB and the efficiency of PD-1/PD-L1 inhibitors treatment for non-small-cell lung cancer. Methods Studies were searched from PubMed, Embase, Cochrane Library database, Chinese Biomedical Literature Database and Wanfang Database up to March 25, 2020. RevMan 5.3 software and STATA15.0 were used for analysis. Results Twelve literatures were involved, including 1209 patients. TMB significantly improved PFS (HR=0.54, 95%CI: 0.42-0.70, P < 0.001) but reduced the ORR (OR=4.41, 95%CI: 2.54-7.63, P < 0.001) of NSCLC patients treated with PD-1/PD-L1 inhibitors. The subgroup analyses showed that the predictive value of TMB was significant in non-small cell lung cancer treated by PD-1/PD-L1 inhibitors combined with anti-CTLA-4 therapy or chemotherapy. No significant publication bias was observed by the Begg's test and Egger's test. Conclusion High tumor mutation burden may predict the improved PFS of non-small cell lung cancer by PD-1/PD-L1 inhibitors treatment, but its predictive value for OS, ORR and long-term survival need more exploration.

Objective: To investigate students' satisfaction degree on "organ-centered" integrated teaching model for Circulatory Disease, and reveal potential problems and propose improvement methods. Methods: All grade 2016 students from the second department of clinical medicine and pediatrics major were selected as study objects and students' satisfaction degree on "organ-centered" integrated curriculum for circulatory system were investigated. Self-designed questionnaires were adopted; eighteen questions related to the satisfaction degree were designed; questionnaires were distributed and collected by WJX software. Multivariate Logistic regression analysis and word frequency analysis of the results were performed using R software. Result: The results of the questionnaire showed that students were not satisfied with the integrated teaching model. Word frequency analysis showed that students' problems mainly were limited class hours but too many learning content, fast teaching speed and insufficient curriculum integration. Multivariate Logistic regression analysis further showed that students' satisfaction degree was related to their mastery of knowledge and post-class review (P<0.05). Conclusion Our teaching and research section should fully summarize the teaching experience and shortcomings in the "organ-centered" integrated curriculum for Circulatory System Disease, and try our best to make the in-class teaching clearer, integrate the basic and clinical knowledge, encourage students to review lessons in time and cultivate their ability of independent learning, so as to ultimately improve students' satisfaction for teaching and teachers' teaching quality.

Objective To observe the expression of nucleotide-binding oligomerization domain-like recep-tor protein 3(NLRP3)inflammasome in epilepsy model,and to explore the neuroprotective effect of melatonin. Methods SD rats aged 21-30 d were randomly divided into the control group(48 rats),the epilepsy group(48 rats)and the melatonin group(48 rats),and each group was subdivided into 4 subgroups according to the time points of 24 h,48 h, 72 h,and 7 d,with 12 SD rats in each subgroup. Fluorescence quantitative polymerase chain reaction and immunohisto-chemical technique were used to analyze the expressions of NLRP3,Caspase-1 and interleukin(IL)-1β in hippocam-pus areas of rats at different points of time after seizures were induced,and their behavior changes were observed. Results The number of NLRP3-positive cells in the epileptic group increased,and reached the peak at 72 h. At 24 h,48 h,72 h,7 d,the number of NLRP3-positive cells in the epilepsy group(14. 20 ± 1. 64,23. 60 ± 1. 14,31. 20 ± 1. 30,25. 40 ± 2. 07)was significantly increased compared with those of the melatonin group(10. 60 ± 0. 89,17. 80 ± 1. 48,24. 00 ± 0. 71,20. 20 ± 1. 92)and the control group(2. 60 ± 0. 89,2. 40 ± 1. 14,2. 40 ± 1. 14,2. 40 ± 0. 55),and the differences were significant(F＝122. 977,375. 125,962. 743,262. 916,all P＜0. 05). The NLRP3 mRNA relative expressions in the epilepsy group (2. 57 ± 0. 12,3. 34 ± 0. 10,4. 84 ± 0. 19,3. 55 ± 0. 13)were significantly increased compared with those of the melatonin group (2. 03 ± 0. 08,2. 71 ± 0. 08,4. 03 ± 0. 14,2. 48 ± 0. 18)and the control group(1. 07 ± 0. 13,1. 08 ± 0. 15,1. 08 ± 0. 23,1. 07 ± 0. 18),and the differences were significant (F ＝422. 386, 1 154. 957,1 132. 112,512. 149,all P ＜0. 05);the Caspase -1 mRNA relative expressions in the epilepsy group (2. 47 ± 0. 07,3. 05 ± 0. 15,4. 39 ± 0. 18,3. 14 ± 0. 11)were significantly increased compared with those of melatonin group(1. 85 ± 0. 07,2. 49 ± 0. 08,3. 60 ± 0. 12,2. 15 ± 0. 12)and the control group (0. 98 ± 0. 25,0. 99 ± 0. 15,0. 98 ± 0. 23,0. 99 ± 0. 18),and the differences were significant(F ＝620. 099,580. 796,1 125. 225,645. 082,all P ＜0. 05);the IL-1β mRNA relative expressions in epilepsy group (2. 32 ± 0. 15,2. 90 ± 0. 18,4. 18 ± 0. 16,2. 74 ± 0. 07)were significantly increased compared with those of the melatonin group (1. 78 ± 0. 09,2. 35 ± 0. 11,3. 24 ± 0. 13,1. 78 ± 0. 16)and the control group(0. 97 ± 0. 13,0. 99 ± 0. 15,0. 97 ± 0. 23,0. 97 ± 0. 18),and the differences were significant(F＝267. 952,398. 767,1 140. 384,438. 962,all P ＜0. 05). Conclusions The NLRP3 inflamma-somes are activated in rat hippocampus with epilepsy induced by lithium-pilocarpine. NLRP3 inflammasome mediated inflammatory response probably involved in the pathogenesis of epilepsy. The melatonin may play a neuroprotective role by inhibiting expression of NLRP3 inflammasome.