Objective:To explore the clinical and genetic characteristics of asparagine synthase deficiency.Methods:Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed.Results:All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor.Conclusions:Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.

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 explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene. Methods:Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using " TANC2 gene", "Neurodevelopmental disorders", "Nervous system development disorders", " TANC2" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57). Results:Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c. 3398G>A (p.Gly1133Glu) and c.2829+ 1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+ PM2_Supporting+ PP3) and the latter was rated as pathogenic (PVS1+ PS2+ PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17), intellectual disability (94.1%, 16/17), language and motor retardation (88.2%, 15/17; 58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities. Conclusion:Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.

Objective:To seek any relationship between the single nucleotide polymorphisms (SNPs) of the apolipoprotein E (ApoE) gene and blood lipid sensitivity to high-intensity interval training (HIIT).Methods:Two hundred and thirty Han Chinese college students (104 males and 126 females) who were not majoring in sports were recruited to perform a 28-minute high-intensity interval workout three times per week for 12 weeks. Before and after the intervention, blood levels of triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), and total cholesterol (TC) were measured. The subjects′ DNA was genotyped to obtain SNP loci, and a linear regression model was constructed to quantify any association between ApoE genotypes and phenotypes.Results:(1) A total of 21 SNP loci were identified associated with ApoE genes, one of which (rs7412) was found to be correlated with the training effect on blood lipids. (2) The initial TT and LDL-C values of carriers of the T allele of gene rs7412 (individuals with the CT + TT genotypes) were, on average, significantly lower than those of CC genotype individuals. However, no significant differences in the initial TG and HDL-C values among different genotypes were observed. (3) After the training the average LDL-C levels among the ApoE rs7412 polymorphic groups had changed significantly, with a significantly greater decrease observed among the carriers of the T allele compared with those of CC genotype.Conclusions:ApoE polymorphism may be significantly associated with TT and LDL-C values in Han Chinese youth, with carriers of the T allele tending to display lower levels than those of CC genotype. The polymorphism of ApoE gene rs7412 may be related to LDL-C reduction through HIIT, with carriers of the T allele more sensitive to such training.

Objective:To investigate the current situation of nurses′ death attitudes, death competency and death education need in tertiary care hospitals, and analyze their relationship and to provide suggestions and guidance for clinical death education.Methods:This was a cross-sectional survey. From January to March 2022, a random sample of 1 902 nurses from five tertiary hospitals in Hunan Province Changsha City was selected as the study population. The general information questionnaire the Death Attitude Profile-Revised (DAP-R), Coping with Death Scale (CDS) and Death Education Needs Scale were used to investigate the current situation of nurses′ death attitudes, death competency and death education needs in tertiary hospitals, and the correlations among them were analyzed.Results:The 1 837 valid questionnaires were finally collected. The total score of death attitude was (91.37 ± 11.26) points, the total score of death competency was (109.25 ± 21.67) points and the total score of death education needs was (214.13 ± 28.64) points. Natural acceptance was positively correlated with death education needs ( r=0.458, P<0.05), escape acceptance was positively correlated with death education needs ( r=0.312, P<0.05), convergent acceptance was positively correlated with death education needs ( r=0.347, P<0.05), death avoidance was negatively correlated with death education needs ( r=-0.291, P<0.05), and death competency was positively correlated with death education needs ( r=0.356, P<0.05). Conclusions:Nurses had some degree of positive death attitudes, moderate level of death competency and higher need for death education. The death education need was positively correlated with positive death attitudes and death competency. The death education should be strengthened to cultivate positive death attitudes and improve death competency to improve the quality of end-of-life care and the quality of patient death.

Objective:To investigate the effect of methoxyamine combined with target guided fluid in elderly patients undergoing pancreaticoduodenectomy.Methods:90 elderly patients undergoing pancreaticoduodenectomy were randomly divided into methoxyamine group and control group, with 45 cases in each group. The patients in both groups were treated with intravenous inhalation combined anesthesia. The stroke volume variation (SVV) was maintained at 7%-10% and the central venous pressure (CVP) was 4-8 cmH 2O. In methoxyamine group, 3 μg/(kg·min) methoxyamine was continuously pumped, while the control group was pumped with the same amount of normal saline at the same speed. The intraoperative infusion volume, urine volume, bleeding volume, blood transfusion cases, intraoperative mean arterial pressure, heart rate, blood gas analysis results, B-type natriuretic peptide (BNP), creatinine, urea nitrogen level and postoperative exhaust time were compared between the two groups. Results:Compared with the control group, the patients in methoxyamine group had less infusion volume, urine volume, lower postoperative BNP level and heart rate, shorter postoperative exhaust time (all P<0.05), and higher mean arterial pressure ( P<0.05). There was no significant difference in blood loss, blood transfusion cases, PaO 2, PaCO 2, pH, creatinine and urea nitrogen between the two groups (all P>0.05). In addition, the number of patients in the methoxyamine group who used pressor drugs was less than that in the control group ( P<0.05), and the frequency of bradycardia was more than that in the control group ( P<0.05). The proportion of tachycardia and urapidil was similar in the two groups (all P>0.05). Conclusions:Methoxyamine combined with target guided fluid therapy can reduce the intraoperative infusion volume of pancreaticoduodenectomy in elderly patients, stabilize circulation, shorten postoperative exhaust time, and contribute to the recovery of gastrointestinal function.

Objective:To determine the characteristics of cervical neuroblastoma and the effect of resection extent on survival and outcomes.Methods:We performed a retrospective review of 32 children with cervical neuroblastoma treated at Beijing Children′s Hospital between April 2013 and August 2020. Data were collected from the medical record. The individualized therapy was designed based on staging and risk group. Based on the extent of resection, patients were divided into incomplete and complete resection groups. Event free and overall survival rates were compared between two groups using the Kaplan-Meier method.Results:The ages of patients ranged from 1 month to 81 months, with a median age of 11 months, including 7 males and 15 females. Twenty-nine patients (90.6%) presented with cervical painless mass. The average diameter of the primary tumors was (5.12±1.43) cm. Tumors were located in the parapharyngeal space in 25 cases (78.1%) and in the root of the neck in 7 cases (21.9%). None had MYCN amplification. According to International Neuroblastoma Staging System (INSS), 15 patients (46.9%) were identified as stage 1, 11 patients (34.3%) as stage 2B, 3 patients (9.4%) as stage 3 and 3 patients (9.4%) as stage 4. There were 12 patients (37.5%) at low risk, 17 patients (53.1%) at intermediate risk and 3 patients at high risk according to Children′s Oncology Group (COG) risk classification system. All patients underwent tumor resection. Postoperatively Horner′s syndrome occurred in 13 patients (40.6%), pneumonia in 9 patients (28.1%), pharyngeal dysfunction in 8 patients (25.0%) and transient hoarseness in 4 patients (12.5%). At a median follow-up of 36.5 months, the overall survival rate was 96.4%, with no significant difference between incomplete and complete resection groups (100.0% vs. 96.3%, χ 2=0.19, P=0.667); the event free survival rate was 78.1%, with a significant difference between the two groups (40.0% vs. 85.2%, χ2=6.71, P=0.010). Conclusions:Primary cervical neuroblastoma has a young onset age, mostly in low and medium risk groups, and represents favorable lesions with good outcomes after multidisciplinary therapy. Less aggressive surgery with preservation of important structures is recommended. Complete resection should not be attempted if it would compromise vital structures.

This paper aims to study the accuracy of cardiopulmonary physiological parameters measurement under different exercise intensity in the accompanying (wearable) physiological parameter monitoring system. SensEcho, an accompanying physiological parameter monitoring system, and CORTEX METALYZER 3B, a cardiopulmonary function testing system, were used to simultaneously collect the cardiopulmonary physiological parameters of 28 healthy volunteers (17 males and 11 females) in various exercise states, such as standing, lying down and Bruce treadmill exercise. Bland-Altman analysis, correlation analysis and other methods, from the perspective of group and individual, were used to contrast and analyze the two types of equipment to measure parameters of heart rate and breathing rate. The results of group analysis showed that the heart rate and respiratory rate data box charts collected by the two devices were highly consistent. The heart rate difference was (-0.407 ± 3.380) times/min, and the respiratory rate difference was (-0.560 ± 7.047) times/min. The difference was very small. The Bland-Altman plot of the heart rate and respiratory rate in each experimental stage showed that the proportion of mean ± 2SD was 96.86% and 95.29%, respectively. The results of individual analysis showed that the correlation coefficients of the whole-process heart rate and respiratory rate data were all greater than 0.9. In conclusion, SensEcho, as an accompanying physiological parameter monitoring system, can accurately measure the human heart rate, respiration rate and other key cardiopulmonary physiological parameters under various sports conditions. It can maintain good stability under various sports conditions and meet the requirements of continuous physiological signal collection and analysis application under sports conditions.

Objective: To explore the effects of intervention programs during primipara, using the Information-motivation-behavioral skills model (IMB) intervention model on initial exclusive breastfeeding. Method: 206 women of primiparas who were registered to the top three hospitals were selected in Shandong province, 2018. These women were hospitalized in the obstetrics/gynaecology wards during the later periods. IMB model was used to support the intervention programs at the following stages: antenatal period, 1 day postpartum, 3-4 days postpartum and 42 days postpartum. Questionnaire regarding self-efficacy energy meter, knowledge and behavior related to breastfeeding, were used before and after the intervention programs. Results: Through intervention programs, statistically significant differences in breastfeeding self-efficacy scores between the four stages (F=150.680, P=0.000) were recorded. Significant differences were also noticed in scores on knowledge of breastfeeding (F=176.556, P=0.000). Conclusion The application of IMB intervention model in women at childbearing age seemed to be helpful in improving the effect of primary breastfeeding in women at childbearing age.

Objective To observe the effect of excretory/secretory products from Trichinella spiralis adult worms(AES)on cecal ligation and puncture(CLP)?induced sepsis in mice. Methods Forty?eight BALB/c mice were randomly divided into 3 groups:a sham operation group(PBS+sham group,Group A),a CLP?induced sepsis group(PBS+CLP group,Group B)and an AES treatment group(AES+ CLP group,Group C). The mice of each group were intraperitoneally injected with 25 μg of AES or PBS only as a control in a total volume of 200μl. Eight mice from each group were selected randomly for survival analy?sis of 96 hours. The other 8 mice in each group were observed for pathological changes in the lung,liver and kidney tissues by HE staining 12 h after CLP,and then determined for the detection of cytokines including TNF?α,IL?1β,IL?6,IL?10 and TGF? βin the sera by ELISA. Results The difference among the survival rates of mice in the 3 groups was statistically significant (χ2=21.16,P<0.05). Compared to Group A(100%),the survival rate of mice in Group B(0)decreased significantly(P<0.05),and also the pathological damage degrees in the lung,liver and kidney tissues of the mice in Group B increased signifi?cantly after CLP. Compared with the mice in group B,the survival rate of those in Group C(70%)increased significantly(P<0.05),and the pathological damage degrees in the lung,liver and kidney tissues of the mice in Group C decreased significantly after the treatment with AES. The differences among the levels of pro?inflammatory cytokines TNF?α(F=27.11,P<0.05),IL?1β(F=18.75,P<0.05)and IL?6(F=100.93,P<0.05)in the sera of the mice in the three groups were statistically signifi?cant. Compared with the mice in Group A,the levels of the 3 cytokines of those in Group B increased significantly(all P <0.05). However,after the treatment with AES,the levels of the pro?inflammatory cytokines of those in Group C decreased signifi?cantly(all P<0.05). The differences among the levels of immunoregulatory cytokines IL?10(F=10.88,P<0.05)and TGF?β(F=11.37,P<0.05)in the sera of the mice in the three groups were also statistically significant. Compared with the mice in Group B,the levels of IL?10 and TGF?β of those in Group C were higher after treatment with AES(both P<0.05). Conclu?sion T. spiralis AES has a therapeutic potential for alleviating sepsis induced by CLP in mice.