Objective To investigate the potential and early effect of hypertonic saline resuscitation on Tlymphocyte subpopulations in patients with traumatically hemorrhagic shock.Method Eighty-two patients with acute traumatically hemorrhagic shock admitted from Department of Emergency，Beijing Tongren Hospital，from De cember 2006 to July 2008 were randomly divided into：hypotonic saline(HS)group(n=43)and Lactated Ringer's solution(LR)group(n=39).The criteria of eligible patients were systolic blood pressure＜90mm Hg at admission with definite evidence of blood loss.Patients with immune system diseases and those who died within 24 hours of admission were excluded.Patients in HS group received intravenous administration of 200 mL of 7.5% sodium chloride withhin 15～20 minutes，and LR group received routine therapy with Lactated Ringer's solution.Blood pressure and heart rate were recorded 10，20，and 60 minutes after the start of resuscitation and compared between two groups.Before and 24 hours after treatment，peripheral blood levels of T-lymphocyte subpopulations including CD3+，CD4+，and CD8+ were measured by using direct immunofluorescence test and compared between two groups.The inter-group comparison was carried out by using independent sample t-lest and intragroup comparison using paired t-test.The numabers of operation，complication cases and death cases were conducted by using X2 test.SPAS version 11.0 software was used for statistical analysis.Results The volume of solution infused in HS group was(3820±623)mL and in LR group was(5430±1254)mL(P＜0.05).At 10 and 20 minutes after the sdministration of solution.the mean blood pressures in HS group were both significantly higher than those in LR group(P＜0.01).The levels of CD3+and CD4+lymphocytes in peripheral blood in HS group 24 hours after treatment were sinificantly higher than those in LR group(P＜0.01).Totally，63(76.8%)patients were cured and 19(23.2%)patients died.ARDS occurred in 10 patients and MODS occurred in 14 patiellts.The mortality，and the rates of ARDS and MODS in HS group were sinificantly higher than those in LP group(P＜0.05).Conclusiom In patients with acute traumatically hemorrhagic shock.HS can increase the effective circulating vol. ume，ameliorate the perfusion of tissues and organs，improve the immune fuction of T-lymphocytes，decrease the rats of ABDS and MODS，mad decrease the morality.HS is more effective than routine solution used for resuscitation.

Objective To prepare and evaluate flutide-loaded PLGA nanoparticles modified with cell-penetrating peptide-TAT.Methods The sequence of TAT was synthesized with florenl methyoxycarbonyl amino acids .The purity and molecular weight of TAT were determined using RP-HPLC and MALDI-TOF-MS.PLGA was modified with the TAT peptide and then prepared into flutide-loaded nanoparticles ( TAT-PLGA NPs) with the double emulsion method .The physical and chemical properties were evaluated , including size distribution, Zeta potential, SEM of nanoparticles , loading ratio of drug content and release profiles of TAT-PLGA NPs in vitro.The cytotoxicity of TAT-PLGA NPs was evaluated by CCK-8 methods.Results The purity of synthesized TAT was 95.6%, and molecular weight was 1495.8.The mean diameter,Zeta potential, drug loading ratio of TAT-PLGA nanoparticals were (159.5 ±2.1) nm, -(1.87 ±0.6) mV, and (5.75 ±0.17)μg/mg, respectively.The nanoparticles observed by transmission electron microscopy (TEM) had a spherical shape and uniform size without aggregation .In vitro release test showed sustained release of flutide from TAT-PLGA nanoparticles .Cell proliferation assay revealed that the TAT-PLGA nanoparticles did not damage the cell growth in vitro and showed good compatibility.Conclusion TAT-PLGA nanoparticles are prepared successfully by double emulsion method,and have sustained-release effect and good compatibility in vitro.They have potential application prospect in prevention and treatment of influenza .

Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). METHODS: The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members. RESULTS: The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4). CONCLUSION The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
Branchio-Oto-Renal Syndrome ; China ; Humans ; Intracellular Signaling Peptides and Proteins/genetics* ; Mutation ; Nuclear Proteins/genetics* ; Pedigree ; Protein Tyrosine Phosphatases/genetics*

Objective To investigate the echocardiographic features of fetal Ebstein's anomaly (EA) and to analyze its clinical outcome and prognosis.Methods A retrospective case-control study was conducted to analyze the echocardiographic features in fetus with EA.Thirty-five EA fetuses (EA group) and 35 normal fetuses matched for gestational age (control group) were enrolled.The main echocardiographic parameters of the two groups were collected and compared.According to the direction of blood flow in the ductus arteriosus (DA),fetuses in EA group were divided into DA reverse perfusion subgroup (n=11) and normal DA blood flow subgroup (n=24).The echocardiographic parameters and GOSE scores were compared between the two subgroups.The echocardiographic features of EA and the difference of fetal hemodynamics were summarized,and the clinical outcome of EA fetus was evaluated by GOSE score.Chi-square test Rank sum test or t test were used for comparison between groups.Results Nineteen (54％) of the 35 patients terminated the pregnancy and 16 (46％) continued pregnancy until delivery during follow-up.Compared with the normal fetus group,the cardiothoracic ratio was significantly higher (0.47±0.11 vs.0.34±0.01,t=6.640,P＜ 0.01) and the transverse diameter ratio of right atrium to left atrium was significantly greater (1.42±0.38 vs.1.08±0.11,t=5.030,P＜0.01) in the EA group,and the ratio of pulmonary artery diameter to aortic diameter was significantly lower in the EA group (1.04±0.21 vs.1.20±0.15,t=-3.770,P ＜ 0.01).Compared with the normal DA blood flow subgroup,the GOSE scores ≥ 1.5 was more frequently seen (7/11 vs.3/24,P=O.004) and the ratio of pulmonary artery diameter to aortic diameter was significantly lower (0.91 ± 0.18 vs.1.24 ± 0.20,t=-4.696,P=-0.002) in the DA reverse perfusion subgroup.Six of the 16 delivery cases underwent EA corrective surgery after birth with 100％ successful rate of operation.Among the 6 cases,two had preoperative GOSE score of ≥1.5 who were considered as severe cases,and four had low GOSE score of＜1.5.The remaining ten cases who had not undergone the corrective surgery were followed up routinely.Conclusion Prenatal hemodynamics of EA combined with GOSE score can more accurately evaluate the severity and prognosis of fetal EA,reduce unnecessary labor induction,and improve postpartum cure rate and clinical outcomes.

Objective:To construct a core muscle strength training plan for patients with lumbar degenerative diseases based on the concept of pre-rehabilitation, and provide a theoretical basis for core muscle strength training for patients with lumbar degenerative diseases.Methods:From January 2022 to June 2023 based on literature search and group discussion, develop a primary item pool for core muscle strength training plan for patients with lumbar degenerative diseases under the concept of pre-rehabilitation. Through two rounds of Delphi expert consultation, revise and establish the core muscle strength training plan for patients with lumbar degenerative diseases under the concept of pre-rehabilitation.Results:A total of 15 experts were consulted by letter, including 3 males and 12 females, aged 35-58 (41.38 ± 5.44) years old. The positive coefficients of two rounds of correspondence with experts were 1.00 and 0.93, the expert judgment coefficients were 0.78 and 0.90, the familiarity coefficients were 0.84 and 0.92, and the authority coefficients were 0.81 and 0.91. The Kendall coordination coefficients of two rounds of inquiry had statistical significance in terms of indicator rationality (0.378, 0.384), indicator importance (0.283, 0.291), and indicator operability (0.263, 0.375) (all P<0.05). The constructed perioperative nursing quality sensitive indicator system for minimally invasive spinal surgery patients included 3 primary indicators, 9 secondary indicators, and 17 tertiary indicators. Conclusions:The core muscle strength training plan for patients with lumbar degenerative diseases based on the concept of pre- rehabilitation is scientific, reliable, practical, and feasible, and can provide a theoretical basis for core muscle strength training for patients with lumbar degenerative diseases.