Objective:To explore the characteristics of echocardiographic parameters among the many parameters of two-dimensional transthoracic echocardiography(2D-TTE) and three-dimensional speckle tracking imaging (3D-STI) that can be used for early identification of familial hypertrophic cardiomyopathy(FHCM) mutation gene carriers, and construct a Nomogram prediction model, in order to provide a diagnostic method for early identification of G+ P- patients for clinical practice.Methods:A total of 15 FHCM families admitted to the General Hospital of Ningxia Medical University from November 2017 to August 2022 were enrolled.Whole exome sequencing and Sanger sequencing technology were used for gene detection, among which 54 were G+ P- and 75 were G-P-. Stratified random sampling was used to divide the subjects into training set ( n=90) and test set ( n=39) according to the ratio of 7∶3. Philips iE33 ultrasonic diagnostic instrument and TomTec offline software were used to obtain relevant ultrasonic parameters. Lasso regression and Logistic regression were used to screen echocardiographic parameters and obtain independent risk factors for early prediction of G+ P-, based on which a Nomogram prediction model was established. Results:①Lasso-Logistic regression showed that global longitudinal strain(GLS) ( OR=1.739, 95% CI=1.305-2.316) and left ventricular outflow trac velocity time integral(LVOT-VTI) ( OR=1.358, 95% CI=1.072-1.722) could be used as independent risk factors for early prediction of G+ P-. ②The Nomogram prediction model was established based on the above indicators. After 1000 internal verifications of Bootstrap self-sampling, the C-indices of the training set and the test set were 0.885 (95% CI=0.816-0.954), 0.878 (95% CI=0.764-0.992), which had good internal consistency. ③The results of the calibration curve showed that the risk of G+ P- predicted by the Nomogram model was basically consistent with the actual risk (training set P=0.990, test set P=0.961); the clinical decision curve shows that under different threshold probabilities, using this prediction model to provide patients with clinical decision-making could bring benefits to patients. Conclusions:Echocardiographic parameters GLS and LVOT-VTI can be used as independent risk factors to predict FHCM mutation gene carriers. The Nomogram prediction model has good discrimination, goodness of fit and clinical benefit in identifying whether the family members of FHCM patients carry the mutation gene, and it can provide a new idea and evaluation method for the early identification of FHCM mutation gene carriers by echocardiography.

[摘 要] 目的：探讨表皮生长因子受体（epidermal growth factor receptor，EGFR）基因突变与非小细胞肺癌（non-small cell lung cancer，NSCLC）伴脑转移患者预后的相关性，为改善NSCLC合并脑转移患者预后、指导个体化治疗提供临床依据。方法：回顾性分析福建省立医院2013年1月1日至2018年9月30日期间收治的88例NSCLC合并脑转移患者的临床资料，随访取得患者的死亡时间，随访截止日期为2019年10月31日。收集和分析的临床资料包括性别、年龄、吸烟史、病理类型、基因检测、治疗情况、无进展生存期（progression free survival，PFS）、总生存期（overall survival，OS）等。运用生存分析（Kaplan-Meier生存时间曲线）评价EGFR突变型患者的预后，以单因素分析（log-rank检验）预测影响EGFR-TKI治疗效果的因素。结果：88例NSCLC脑转移患者有57例为EGFR突变型，其中位PFS（MPFS）为13.0个月（95%CI：11.951~14.049），明显高于EGFR野生型患者（P=0.003），患者中位生存期（median survival time，MST）为29.0个月（95%CI：20.531~37.468），明显高于EGFR野生型（P=0.001）。EGFR突变型中，Exon19-del突变组患者较Exon21 L858R突变组患者OS有延长趋势（P=0.05），Exon19-del+Exon20T790M突变组患者OS较Exon21 L858R突变组有延长趋势（P=0.077）。结论：EGFR突变组较野生型组NSCLC脑转移患者预后相对好些，且携带19外显子单一缺失突变的患者预后最好。

Objective To evaluate the impact of total parenteral nutrition(TPN)on nutrition status and inflammatory markers in hospitalized fasted patients with inflammatory bowel disease(IBD).Methods A retrospective study was performed and 82 hospitalized fasted IBD patients [male/female=58/24,(39.4±14.5)years] who received TPN entered the study.Among them,38 patients had ulcerative colitis(UC)and 44 patients suffered from Crohn`s disease(CD).Clinical data(gender,age,duration of disease,history of disease,prednisone,immuno-suppressor,and antibiotics)were obtained from medical records.Nutritional parameters,C-creative protein(CRP),and erythrocyte sedimentation rate(ESR)before and after TPN were also obtained.Average caloric supplementation by TPN was(4 437.3±1 199.1)kJ/d and the nitrogen amount was(9.9±1.7)g/d.Median PN length was 15 days(7-54 days).67 IBD patients received a TPN formula with glutamine(≥14 d,25 patients vs.0-14 d,42 patients)and 15 IBD subjects received TPN without glutamine.Malnutrition was diagnosed by body mass index(BMI)and serum albumin level.Results The prevalence of undernutrition was 90.2％(74/82)in the study population.CD patients had a significantly longer history of disease [84(3-288)months vs.24(1-324)months,P<0.001] and a significantly lower BMI [(15.6±1.8)kg/m2 vs.(19.1±3.5)kg/m2,P<0.001] compared with those in UC patients.TPN improved nutritional parameters [serum albumin:(28.7±6.6)g/L before TPN vs.(31.7±5.8)g/L after TPN,P<0.001;pre-albumin:(174.1±85.5)mg/L before TPN vs.(227.2±82.8)mg/L after TPN,P<0.001].Conclusions TPN improves nutritional status in hospitalized fasted IBD patients.However,prospective randomized controlled trials are required to estimate the role of low-to-middle dosage of glutamine in IBD patients.

Objective To compare the clinical effects of HC video laryngoscope and fiberoptic bronchoscope (FOB)in guidance of endotracheal intubation for patients undergoing cervical surgery.Meth-ods A total of 50 patients (ASA I or II)with cervical vertebra injury,nerve root cervical spondylopathy or cervical spondylotic myelopathy in the first affiliated hospital of Wenzhou medical university were selected, all of whom were undergone selective cervical operations between March 2014 and June 2015.The patients were randomly divided into two groups (n =25):HC video laryngoscope group (group H)and FOB group (group F).After induction of anesthesia,HC video laryngoscope and FOB were used for tracheal intuba-tion.⑴ Intubation time and success rates of intubation were recorded,and visual analogue scale (VAS) was used to evaluate the difficulty of intubation;⑵ Mean arterial pressure (MAP),heart rate (HR),and rate-pressure product (RPP)before incubation (Tb),immediate after intubation (T0),and 1min after in-cubation (T1)were recorded;(3)Intubation-related complications were recorded.Results ⑴ The dura-tion of intubation (19.7 ±7.1 )s in the group H was significantly shorter than that of group F (51.9 ± 19.2)s (P <0.05).The one-time success rate of intubation in group H (92%)was higher than that of group F (64%),with statistically significant differences (P <0.05).Intubation was easier in group H (P <0.05).⑵ MAP,HR and RPP of group H at T0 were higher than those of group F.And at T1,there were no statistical differences between groups in MAP,HR and RPP (P >0.05).⑶ The incidence of complications (sore throat)was lower in group H (P <0.05).Conclusions Compared to FOB,HC vid-eo laryngoscope-guided selective cervical operation has the characteristics of higher success rate of intubat-ion,shorter operation time,and easier operation,more stable hemodynamics and lower incidence of intuba-tion complications.Therefore,HC video laryngoscope is a safe and effective method in the intubation for pa-tients undergoing cervical surgery.

Objective To investigate the relationship between serum ferritin and nonalcoholic fatty liver diseases in obese children.Methods Obese children aged 6 to 14 years old were enrolled.Duration of obesity, anthropometric parameters (height, body weight, waist circumference, hip circumference), bioelectrical impedance analysis (body fat), serological parameters (liver transaminases, lipid metabolism, fasting blood glucose, fasting insulin, serum ferritin) and liver ultrasonography were recorded.Insulin resistance (IR) index was calculated by homeostasis model assessment (HOMA).All subjects were divided into 3 groups according to liver ultrasound and liver transaminases : simple obese children (SOC) group, obese children with nonalcoholic simple fatty liver (NAFL) group and obese children with nonalcoholic steatohepatitis (NASH) group.Results 86 obese children entered the study, with a mean age of (10.4 ± 1.9) years, including 26 in the SOC group, 28 in the NAFL group and 32 in the NASH group.Waist circumference standard deviation score (SDS or Z-score), waist-to-hip ratio, HOMA-IR index and serum ferritin in the NASH group were obviously higher than those in the NAFL group [2.3 ± 0.3 vs.2.1 ± 0.3, P =0.020;1.0 ± 0.0 vs.0.9 ± 0.1,P=0.014;4.0±1.7 vs.2.9±1.8, P=0.006;(104.1 ±49.6) μg/Lvs.(68.4 ±22.7) μg/L, P=0.004] and the SOC group [2.3 ±0.3 vs.1.9 ±0.3, P=0.000;1.0±0.0vs.0.9 ±0.1, P=0.012;4.0 ±1.7 vs.2.5 ±1.6, P=0.001;(104.1 ±49.6) μg/Lvs.(59.2 ±28.9) μg/L, P=0.001], while there was no significant difference in body mass index Z-score [2.8 ± 0.5 vs.2.7 ± 0.6, P =0.524;2.8 ± 0.5 vs.2.7 ± 0.6, P =0.662].There were no significant differences between the NAFL group and the SOC group in the above indicators [2.1 ±0.3 vs.1.9 ±0.3, P =0.260;0.9 ±0.1 vs.0.9 ±0.1, P =0.952;2.9 ± 1.8vs.2.5±1.6, P=0.283;(68.4±22.7) μg/Lvs.(59.2±28.9) μg/L, P=0.161].Mter controlling age, body mass index, waist circumference, waist-to-hip ratio, triglyceride, and HOMA-IR index, serum ferritin was still positively correlated with the magnitude of nonalcoholic fatty liver diseases in obese children (r =0.335, P =0.002).Conclusion Serum ferritin is probably an independent risk factor for NASH in obese children.

Objective To evaluate the relationship between birth weight and nonalcoholic fatty liver diseases (NAFLD) in Chinese primary school students. Methods A cross-section study was conducted in ifve elementary schools in Gao Hang Town, Shanghai and 2163 students were enrolled in the study (1120 boys/1043 girls). Height, body weight, waist circumference and per-cent of body fat (bioelectrical impedance analysis) were measured by professional nutritionist after training. Birth weight, feeding pattern, height and body weight of parents were obtained by a self-completed questionnaire. NAFLD was diagnosed by ultra-sound. The risk factors of NAFLD were analyzed. Results The prevalence of NAFLD in the study population was 8.9%. The prevalence of NAFLD was signiifcantly higher in boys than that in girls (12.5%vs 5.0%, P<0.01). Logistic regression showed that sex (OR=1.97, 95%CI:1.21-3.21) and percent of body fat (OR=1.12, 95%CI:1.07-1.17) were the risk factors of NAFLD, and normal BMI was the protective factor of NAFLD (OR=0.09, 95%CI:0.04-0.19) in the study population. Conclusions The pre-valence of NAFLD is higher in boys than that in girls. Also overweight, and high percent of body fat are risk factors of NAFLD in children.

Objective To investigate the risk factors of central venous catheters (CVC) colonization.Methods A retrospective study was performed on adult patients with CVCs placement in Renji Hospital,Shanghai Jiaotong University from January 2006 to March 2010.Clinical data,catheter-related information (including duration of catheter placement,position and purpose of catheterization,and whether or not out-of-ward catheterization),catheter culture results,and prevalence of catheter-related blood stream infection (CRBSI)was collected.Results A total of 651 patients aged 18 to 97 years (median:63 years) were enrolled in the study,in whom 762 CVC were placed.The median duration of catheter placement was 1 1 days (2 to 122 days)and the total duration of CVC placement was 10 725 days.The prevalence of catheter colonization was 16％(122/762),and 134 germs were cultured.Gram-positive cocci was the most common colonized bactera (52.2％,70/122),followed by gram-negative bacilli (33.6％,45/122) and fungi (14.2％,19/122).Overall 13 CRBSI were confirmed and the rate of CRBSI was 1.21/1000 catheter-days.Logistic regression analysis demonstrated that the risk factors for CVC colonization included mechanical ventilation [odds ratio (OR) =1.783,95％ confidence interval (Cl) =1.108 ～2.870],serum albumin concentration less than 25 g/L before catheterization (OR =1.783,95％ Cl =1.357 ～ 6.757),prolonged duration of catheter placement (OR =1.105,95％ Cl =1.009 ～ 1.111),and out-of-ward catheterization (OR =2.837,95％ Cl =1.010 ～7.969).Conclusion Patients with prolonged duration of catheter placement and out-of-ward catheterization are inclined to CVC colonization.

Objective To compare the degree of pain in patients after radical gastrectomy under different anesthetic regimens.Methods One hundred and two ASA Ⅰ or Ⅱ patients of both sexes,aged 50-75 yr,weighing 45-70 kg,undergoing elective radical gastrectomy,were randomly divided into 3 groups ( n =34 each):general anesthesia (GA) group,combined general-subcostal transversus abdominis plane block (CGTA) group and combined general-epidural anesthesia (CGEA) group.The patients were sent to the postanesthesia care unit (PACU) after tracheal extubation,and the VAS score on arrival in the PACU was recorded.The degree of pain was evaluated by VAS score,and when VAS scores ＞ 3,the patients received intravenous morphine titration.When VAS scores ≤ 3,morphine titration was stopped and all the patients were connected to patient-controlled intravenous analgesia and/or epidural analgesia pump.The total amount of morphine consumed was recorded at the end of titration,and the occurrence of adverse reactions was also observed.Results Compared with groups GA and CGTA,the incidence of moderate to severe postoperative pain was significantly decreased in group CGEA (P ＜0.01).The incidence of severe postoperative pain,the VAS score on arrival in the PACU and the total amount of morphine consumed were decreased gradually in groups GA,CGTA and CGEA ( P ＜ 0.01 ).The incidence of sedation was significantly lower in group CGEA than in group GA (P ＜ 0.01 ).There were no significant differences in the other adverse reactions among the three groups ( P ＞ 0.05 ).Conclusion The degree of pain is reduced gradually in patients after radical gastrectomy under GA,CGTA and CGEA.

Objective To study prognosis and grading of somatosensory evoked potential(SEP)in long-term unconscious patients after severe traumatic brain injury(TBI).Methods Five prognostic factors including age,sex,injury mechanism,history of temporal craniotomy and SEP grading were selected and analyzed in 47 patients after severe TBI with a duration of unconsciousness longer than two weeks.The prognosis was judged by Glasgow Outcome Scale.Results Prognosis was closely associated with SEP grading(P=0.024).The accuracy of SEP in assessing the prognosis was 91.5%.About 95%-100% of patients with SEP at grade Ⅲ-Ⅲ ended up with severe disability,persistent vegetative state or death.However,43.75% of patients with SEP at grade Ⅰ had good prognoses.Conclusions The SEP grading can objectively and accurately evaluate patients' prognosis and demonstrate the brain function.

Objective To investigate the distribution of high pathogenicity island(HPI)in multiple-drug-resistance gram-negative bacilli and analyze the protein sequence.Methods To amplify thefyuA-irp2 gene cluster of the 84 isolates by multiple polymerase chain reaction(PCR),the product was subsequently sequenced.Results The positive rate ofirpl,irp2,irp3,irp4 and fyuA was 40.48％,41,67％,5.95％,O％and 16.67％,respectively.Theamino sequence offyuA comefromEC06748,Kp7151 and PAE7 was usedto compare with AL590842,there are 100％identities.Amino sequence ofirp2 come from Kp49 and Kp51 have 99％identities with AAA27636.1,but amino sequence of irp2 come from EC04 and EC07 only have 90％identities with 1176840.The GenBank accession number is FJ211852 and FJ211851.Amino sequence ofirpl come fromKp 10,Kp49 and Kp51 have 99％identities with AL590842。and amino sequence ofirp3 come from EC03,Kp51,Kp10 and Kp49 have 97％identities with CAA73128.There are the same mutation among the same species,and different mutation among different species.Conclusion There was different extant mutant lost in thefy～t-i,v2 gene cluster in multiple-drug-resistanee gram-negative bacilli.