Objective To investigate the relationship between gene mutation characteristics and immunological markers in patients with small cell lung cancer.Methods From January 2019 to 2020,155 patients with small cell lung cancer were admitted.Gene mutations were detected in these patients using target gene capture and sequencing method.Moreover,the tumor mutational burden(TMB)and expression of PD-L1 in some patients were detected.Results A total of 326 gene mutations were detected in the patients,the most significant of which were TP53 and RB1.Among the 8 genes with mutation frequency higher than 15％,patients with KMT2D,KMT2C,FAT1 and NOTCH1 mutations had higher TMB than those without mutation,and the difference was statistically significant(P＜0.05).Conclusion The most common mutated genes in patients with small cell lung cancer are TP53 and RB1.KMT2D,KMT2C,FAT1 and NOTCH1 may be potential markers for the efficacy of immunotherapy in small cell lung cancer.

Objective     To investigate the safety and feasibility of day surgery for patients with palmar hyperhidrosis based on the principles of enhanced recovery after surgery (ERAS). Methods     We retrospectively reviewed the medical records of consecutive patients who underwent endoscopic thoracic sympathicotomy (ETS) in the First Affiliated Hospital of Xi'an Jiaotong University from March 2020 to December 2021. Patients were divided into a day surgery group and a conventional group according to their perioperative management methods. The patients in the day surgery group underwent an optimized perioperative procedure under the guidance of ERAS, and were ventilated with a laryngeal or face mask during the operation. The patients in the conventional group completed the preoperative examination, operation and postoperative observation according to the conventional procedures, and were intubated with a single-lumen endotracheal tube. The demographic characteristics, operation time, hospital stay, postoperative complications, and hospitalization cost were compared between the two groups. Results     Finally 172 patients were collected, including 90 males and 82 females, with an average age of 25.97±7.43 years. There were 86 patients in each group. All patients ceased suffering from palmar sweating after surgery. No patient experienced massive bleeding or conversion to thoracotomy. There was no statistical difference in operation time between the two groups (P=0.534). Patients in the day surgery group were discharged within 24 hours. The average hospital stay in the conventional group was 2.09±0.41 days. Incidence of postoperative respiratory complications, and the hospitalization cost of the day surgery group were significantly lower than those of the conventional group (P<0.001). The satisfaction rate in both groups was greater than 95%. Conclusion     Day surgery for patients with palmar hyperhidrosis based on the principles of ERAS is safe and feasible, which can reduce postoperative complications, shorten the length of hospital stay and save the cost of hospitalization.

Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) combined with neoadjuvant chemotherapy in patients with locally advanced pancreatic cancer. Methods We searched PubMed, Embase, Cochrane Library, Web of Science, China Biomedical Literature Database, CNKI, Wanfang, and VIP databases for articles dated from the establishment of each database to March 2022. Meta-analysis was performed using RevMan5.4 software. Results A total of 3970 patients with locally advanced pancreatic cancer were enrolled in eight studies, including one randomized controlled trial, four retrospective studies, and three prospective studies. The patients were divided into the combined therapy group with 344 patients and the chemotherapy-only group with 3626 patients. Meta-analysis showed that the overall survival of patients in the combined therapy group was significantly higher than that in the chemotherapy-only group (OR=4.52; 95%CI: 2.63-7.77; P < 0.00001). However, no significant difference existed in the disease control rate between the combined therapy group and the chemotherapy-only group (OR=0.58; 95%CI: 0.02-18.74; P=0.76). Moreover, no significant difference existed in the disease progression between the two groups (OR=0.49; 95%CI: 0.23-1.02; P=0.06). The combination of neoadjuvant chemotherapy and IRE had no significant effect on the incidence of adverse reactions of gastrointestinal reaction (OR=0.37; 95%CI: 0.10-1.34; P=0.13) and bone marrow suppression (OR=0.61; 95%CI: 0.26-1.40; P=0.24). Conclusion IRE combined with neoadjuvant chemotherapy can remarkably improve the prognosis of patients with locally advanced pancreatic cancer, and significantly prolong the overall survival.

To study the genotype-phenotype and genetic characteristics of Kallmann syndrome. Five patients with Kallmann syndrome were enrolled. Clinical data collection, chromosome karyotyping, whole exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA) were used. All the five patients were males, aging from 2 months to 45 years old. Three of the five patients complained cryptorchidism, one complained gonadal dysgenesis, and one complained fasting hyperglycemia. The clinical feature was hypogonadotropic hypogonadism with anosmia, and all karyotype was 46 XY. Magnetic resonance imaging (MRI) showed undeveloped olfactory bulbs and tracts. Kallmann syndrome related gene novel variants were found in all the 5 patients. The hypoplasia of right kidney was found in a patient with c. 1795_1799del (p.Asn599Profs*66) of anosmin 1 (ANOS1) variant. Clinical heterogeneity and incomplete penetrance were seen in a patient with c. 2824A>G (p.Thr942Ala) of chromodomain helicase DNA binding protein 7 (CHD7). Besides, WES indicated a 109 bp-deletion on Xp22.31 (chrX: 8507699-8507804), which was the deletion of exon 10 on ANOS1 gene verified by MLPA. The deletion variant was inherited form his mother, and conformed to X-linked recessive inheritance. Kallmann syndrome is genetic and clinical heterogeneous. WES is helpful for early diagnosis. MLPA and genome copy number variation analysis (CNV) are also recommend if necessary.

OBJECTIVE: To explore the genetic basis for a child with multiple malformation and growth retardation. METHODS: The child was subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technique. RESULTS: G-banding karyotyping analysis has found no abnormality in the boy and his parents. CNV-seq analysis discovered that the child has carried a heterozygous 4.36 Mb deletion (24 020 000-28 380 000) at 7p15.3p15.1. The same deletion was not found in either parent. The deletion has encompassed 28 OMIM genes including HOXA13, CYCS, DFNA5, HOXA11 and HOXA2. Among these, HOXA13 has been associated with distal limb deformity, hypospadias and cryptorchidism. HOXA1, HOXA3 and HOXA4 are involved in the formation of cardiac primordia and primordial tube, and HOXA2 is involved in the development of auditory system. The clinical phenotype of the child was consistent with that of 7p15 deletion syndrome. CONCLUSION Haploinsufficiency of HOXA1, HOXA2, HOXA3, HOXA4 and HOXA13 genes may underlie the clinical phenotype of the child, which is comparable to 7p15 deletion syndrome.

Objective    To analyze the effect of different drainage modes on the postoperative thoracic drainage after video-assisted thoracoscopic surgery for radical resection of lower lung carcinoma. Methods    A total of 183 patients with non-small cell lung cancer who received biportal thoracoscopic anatomical lower lobectomy combined with mediastinal lymph node dissection in the First Affiliated Hospital of Xi'an Jiaotong University from August 2017 to August 2019 were enrolled, including 113 males and 70 females, aged 31-77 (56.5±6.4) years. The patients were randomly divided into three groups, including an anterior axillary line group, a mid-axillary line group and a modified anterior axillary line group. Clinical efficacy of the three groups was compared. Results    No significant difference among these three groups in terms of gender, age, surgical site, pathological type, pathological staging, postoperative chest wall subcutaneous emphysema, postoperative pain score, and postoperative hospital stay was found (P>0.05). There were significant differences among the patients in terms of postoperative pleural effusion, re-insertion of chest tube or aspiration, total liquid quantity of thoracic drainage, drainage time and chest wall incision stitches time (P<0.05). The anterior axillary line group had higher risk of postoperative pleural effusion than the other groups (P<0.05). The occurrence of postoperative pleural effusion and rate of reposition of chest tube or aspiration were significantly reduced in the modified anterior axillary line group (P<0.05). Conclusion    Chest drainage tube with large diameter (24F) in the 5th intercostal space of the anterior axillary line combined with another micro-tube (8.5F) in the 7th or 8th intercostal space of the inferior scapular angle line can shorten drainage time to reduce postoperative pain, reduce the occurrence of postoperative pleural effusion, and shorten the time of surgical incision stitches.

Objective:To compare the efficacy of HES 130/0.4 and acetate Ringer′s solution (A-HES) and HES 130/0.4 and normal saline (NS-HES) for volume therapy in the patients undergoing non-cardiac surgery with general anesthesia.Methods:Two hundred and fifty American Society of Anesthesiologist physical status Ⅰ or Ⅱ patients of both sexes, aged 18-64 yr, with body mass index of 18-32 kg/m 2, undergoing noncardiac surgery with general anesthesia, were divided into group A-HES and group NS-HES using the stratified block randomization technique.A-HES and NS-HES 15 ml/kg were intravenously infused over 1 h immediately after induction of anesthesia in A-HES and NS-HES groups, respectively.Mean arterial pressure (MAP), heart rate (HR) and central venous pressure (CVP) were recorded before and after infusion, and the maximum changing rate of MAP and HR and the maximum change in CVP were calculated.The pH value, BE and HCO 3- were recorded before infusion and at 15 min after the end of infusion, and Hb, Hct, electrolytes, blood glucose, blood biochemical parameters and parameters of coagulation function were measured.The occurrence of abnormal blood biochemical parameters, blood glucose, and parameters of coagulation function, intraoperative requirement for vasoactive drugs, occurrence of HES-related adverse events, and intraoperative fluid intake and output were recorded. Results:A total of 251 cases were actually enrolled in this study, with 125 cases in group A-HES, and 126 cases in group NS-HES.Compared with group NS-HES, no significant change was found in the maximum changing rate of MAP and HR and the maximum change in CVP ( P>0.05) in group A-HES, and non-inferiority analysis showed that group A-HES was not inferior to group NS-HES.Compared with group NS-HES, the concentrations of BE and HCO 3-, K + , Ca 2+ and Mg 2+ were significantly increased, the concentrations of Na + and Cl - were decreased, the PT was shortened, the incidence of abnormal PT was decreased at 15 min after the end of infusion ( P< 0.05), and no significant change was found in the other parameters mentioned above in group A-HES ( P>0.05). Conclusion:The volume expanding effect of A-HES and its effect on liver and kidney function are not significantly different from those of NS-HES, however, A-HES has certain advantages in maintaining acid-base balance, electrolyte stability and coagulation function.

Objective:The extensive development of anatomical pulnonary segmentectomy requires thoracic surgeons to be familiar with the anatomical variations of the lung segment. The purpose of this study is to analyze the anatomical patterns of the right upper lobe lung segment using three-dimensional reconstruction, and to count rare variant types.Methods:From October 2017 to March 2020, 101 patients with small pulmonary nodules who were undergo segmental resection in our center were subjected to preoperative three-dimensional reconstruction of the lung structure, and the reconstruction data was retained for the statistics and analysis of the anatomical structure in the right upper lung lobe.Results:The right upper lobe bronchus is the most common with three branches(77/101), followed by two branches(16/101) and four branches(7/101). The two branches(70/101) of the right upper lobe pulmonary artery are the most common, followed by single branch(19/101) and three branches(11/101). In rare cases, four branches(1/101 cases) can be seen. The two branches(63/101) of the right upper pulmonary vein were the most common, followed by three branches(32/101) and single branch(6/101). In addition, a total of 12 rare mutations were counted. There were 2 variants in the bronchus, totaling 2 cases; 4 rare variants in the pulmonary artery, 13 cases total; 6 rare variants in the pulmonary vein, 10 cases total.Conclusion:The lung anatomy is complex and has many variations. The surgeon should fully grasp the anatomical structure of the lung segment of the patient's operating area before surgery, the data in this article will be a valuable reference for thoracic surgeons to carry out the upper right lobe segmentectomy.

Objective: To evaluate the application of panning axial turnover in placement of surgical positions before thoracic surgery. Methods: From June 2017 to September 2017, altogether 140 patients who underwent thoracic surgery were enrolled in and randomly divided into two groups: the observation group and the control group. The control group was treated with traditional turnover method, while the observation group were treated with axial turnover. Results: No significant changes were found in blood pressure, heart rate and respiratory rate (P>0.05) after turning over. There was no significant difference between the observation group and the control group about turn over time, (7.06±0.78)s vs. (7.01±0.81)s (P>0.05). The subjective evaluation results of the medical staff in the observation group were significantly better than those of the control group (Z=-7.111, P<0.01) and the shift rate of double-lumen endotracheal tube in the observation group was 3.7% (2/54), which was significantly lower than 21.6% (11/51) of the control group (χ²=6.158, P<0.05). Conclusions The panning axial turnover properly guided the turn-over work with the principle of human body mechanics, which was more labor-saving and requires less operators. Besides, the panning axial turnover effectively reduced the double-lumen tracheal intubation shift rate. It′s worthy of clinical promotion.