Objective To evaluate the safety and effectiveness of laparoscopic colectomy in high-risk patients with colonic cancer.Methods A retrospective analysis was conducted to compare the laparoscopic colectomy with open management in high-risk patients with colonic cancer.Statistical analysis were conducted among the indicated surgery-related terms.Results A total of 172 cases were included (65 cases in laparoscopic group and 107 cases in open surgery group).There were no statistically significant difference between two groups in terms of age,gender,body mass index and surgical methods (P ＞ 0.05).But operation time in laparoscopic group,intraoperative blood loss,postoperative fasting time,and drainage tube indwelling time were better than those in open surgery group [(128.5 ± 43.9) min vs.(176.2 ± 39.8) min,t =-7.98,P＜0.01;(120.5 ±38.4) ml vs.(223.0±43.1) ml,t =-16.79,P＜0.01;(2.6±2.1) d vs.(3.2 ± 1.5) d,t =-2.44,P＜0.05; (4.6 ± 3.1) d vs.(7.9 ±3.8) d,t =-6.25,P＜0.01].Conclusion Laparoscopic is colectomy is a feasible and safe management in high-risk patients with colonic cancer.

Abstract: Objective　To explore the accurate diagnosis of children with suspected rare inherited metabolic diseases, and to compare the application value of mass spectrometry and genetic testing in the diagnosis of rare inherited metabolic diseases (IMD). Methods　The clinical information, mass spectrometry, and genetic results of children with suspected rare inherited metabolic diseases admitted to the Department of Pediatrics, the Affiliated Haikou Hospital of Xiangya Medical College, Central South University from March 2017 to December 2021 were analyzed retrospectively. Results　156 children with suspected rare inherited metabolic diseases were detected by mass spectrometry, 67 cases were positive and 89 cases were negative. Children with positive initial examination were retested, and 19 cases were positive. Among the retest positive cases, 13 cases were given genetic testing, and 9 cases were positive and 4 cases were negative. Among the initial negative cases, 54 children with poor therapeutic effect and high clinical suspicion of inherited metabolic diseases completed genetic testing, 15 cases were positive and 39 cases were negative. The results of the two detection methods were compared, the positive rate of mass spectrometry was 19.4%(13/67), and the positive rate of genetic testing was 35.8%(24/67). The continuity correction of Pearson's chi-square test of continuity correction suggested that the results of genetic testing and mass spectrometry were different, and the difference was statistically significant (P<0.05). Taking genetic testing as the gold standard, the sensitivity and specificity of mass spectrometry detection were 37.5% (95%CI:19.6%-59.2%) and 90.7% (95%CI:76.9%-97.0%), respectively. Among the 24 confirmed cases, 5 cases were diagnosed by gene panel and 19 cases were diagnosed by whole exome sequencing (WES). One case diagnosed by WES had no pathogenic mutation detected by gene panel before diagnosis. The detection of DNM1L gene c.1040C>G and AMN gene c.651+1G>C are novel pathogenic gene variants, which have clinical significance. Conclusions　The ability of mass spectrometry in the diagnosis of inherited metabolic diseases is limited. Genetic testing, especially whole exome sequencing, can be the first choice for individualized diagnosis of suspected rare inherited metabolic diseases. In addition, the new mutation sites found by WES in this study enriched the pathogenic gene mutation spectrum and provided direction for further functional biological experiments.

Abstract: Objective To investigate the clinical phenotype and genotype characteristics of mitochondrial encephalomyopathy (ME) families in children. Methods　The clinical data and genetic test results of eleven ME families who were admitted to the department of pediatrics of three tertiary hospitals in Hainan Province from January 2007 to December 2021 were retrospectively analyzed. Results　A total of 13 cases were diagnosed in eleven ME families, including 6 males (46.15%) and 7 females (53.85%). The age of onset ranged from 6 months to 12 years, the interval from onset to diagnosis was 9 months to 8 years and Morava score was 6-11. Clinical symptoms mainly included abnormal movement, developmental retardation or regression, seizures, stroke-like episodes; among the 13 children, 11 (84.62%) had elevated blood lactic acid and 4 (30.77%) had elevated blood creatine kinase. Cranial MRI mainly involved temporal parietal occipital lobe, cerebellum, brainstem and basal ganglia, some with brain atrophy. Gene detection showed that 8 families (72.72%) were caused by mtDNA mutation, of which 5 families and 6 patients were caused by MT-TL1, m.3243A>G, and 5 asymptomatic carriers of 4 families (80.00%) were detected; MT-ND5, m.13513 G>A was detected in 2 families and 3 patients, and an asymptomatic mutation carrier was detected in a family (50.00%); MT-ND3, m.10191T>C was detected in one family and one patient, and 2 asymptomatic mutation carriers were detected. Three families were caused by nDNA mutations (27.27%). A compound heterozygous mutation of c.751C>T and c.516-2A >G in SURF1 gene was found in one family and one patient, which followed autosomal recessive inheritance. The pathogenic loci were inherited from mother and father, respectively. Two new spontaneous mutations c.1040C>G and c.2060_2062delTAG in DNM1L gene were respectively detected in two families and two patients. All children were given mitochondrial cocktail therapy and symptomatic treatment after diagnosis by genetic testing. Follow-up to June 2022, two families were lost to follow-up and 9 families were followed up regularly; three of the 11 children were still survived. Conclusions　For children diagnosed with ME, genetic testing of family members can screen out early asymptomatic pathogenic mutation carriers, achieve early diagnosis of ME and guide clinical genetic counseling. Two new pathogenic sites of DNM1L gene were found in this study, which expanded the genotype spectrum.

Abstract： Objective　To investigate the clinical characteristics and pathogenic genetic mutation of a case with encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1). Methods　The clinical data and genetic test results of a patient with EMPF1 admitted to the Department of Pediatrics, the Affiliated Hospital of Xiangya Medical College of Central South University in August 2020 were retrospectively analyzed. Results　An 8-year-old girl, her main clinical features were developmental regression, microcephaly, hypotonia, refractory epilepsy, cranial MRI suggesting brain atrophy and abnormal signals in the right temporal-occipital-parietal cortex, aEEG showing slow wave discharge in the right hemisphere; Whole-exome sequencing of families suggested that the child had a heterozygous missense variant at the c.1040C>G site in the DNM1L gene and the verification results by Sanger sequencing showed that her parents had no variant in this site, which was a novel mutation in accordance with autosomal dominant inheritance; bioinformatics analysis predicted that the mutation was pathogenic. After 2 years of outpatient follow-up, the patient's condition was stable after mitochondrial cocktail therapy and antiepileptic drugs, no epileptic seizure occurred in the past year, mental state and swallowing function improved, and she could be fed orally with occasional nausea and vomiting. Conclusions　The main clinical manifestations of EMPF1 are psychomotor developmental delay or regression, dystonia, limb paralysis, epilepsy and so on. According to the clinical phenotype and genetic test results, the rare disease can be diagnosed early.

OBJECTIVE To explore the risk factors in elderly patients with ventilator-associated pneumonia(VAP) and to provide the corresponding clinical prevention strategies.METHODS The ages,underlying diseases,mechanical ventilation method,use of antibiotics,and pathogenic bacteria of the VAP patients were investigated and analyzed.RESULTS Totally 105 elderly patients with VAP had serious underlying diseases,and were treated with broad-spectrum antibiotics,tracheal intubation or trachea incision.Most pathogenic bacteria were multiresistant.CONCLUSIONS Prevention of VAP is the priority of treatment for elderly patients.In order to control the occurrence and spread of VAP,clinicians should shorten the time of ventilator treatment,pay more attention to sterilization and isolation,and strengthen the attendance of the patients.

Objective To investigate the clinical characteristics of digestive system cancer during pregnancy and its influence on mother and fetus.Methods Clinical data of 12 pregnant women accompanied with digestive system cancer obtained from the follow-up record of cancer patients between July 2007 and January 2016 in Daqiao Community Health Service Center of Yangpu District,Shanghai,were retrospectively analyzed.Results Delayed treatment,missed diagnosis and misdiagnosis were found in ten of the 12 cases.Eleven cases underwent B-type ultrasound as an early imaging screening method.Eleven patients had advanced cancer,but only two of them were eligible for radical surgery.Five patients could be treated with anti-tumor therapy.Eleven of the 12 patients died within two years after diagnosis,and only one survived over five years.Eight of the twelve embryos or fetuses died and four neonates survived.Conclusions Digestive system cancer during pregnancy has an insidious onset,and the rates of missed diagnosis and misdiagnosis are high,with advanced disease stage at diagnosis and poor prognosis.Knowledge of the digestive system cancer during pregnancy and early diagnosis and treatment capacity should be enhanced so as to reduce the damage to both the pregnant woman and fetus.

Present basic researches on hepatic stem cells have obtained great progress. It is believed that hepatic stem cells can differentiate into hepatic cells and biliary duct cells. Hepatic stem cells are isolated and cultured by two-step collagenase digestion method, density gradient centrifugation, centrifugal elutriation, fluorescent activation screening method and immunomagnetic beads screening method. Directional differentiation of hepatic stem cells is a complicated process, which is affected by exterior and interior cell factors under liver microenvironment where are beneficial to growth, differentiation and function of stem cells. Hepatocyte growth factor can promote the proliferation of hepatic stem cells, and accelerate the differentiation into mature hepatic cells. Transcription factor of hepatic cells play a crucial effect in regulating the differentiation of hepatic stem cells. Incomplete or abnormal differentiation of hepatic stem cells can be responsible for liver cancer. Hepatic stem cells are the potential carrier cells as a target gene for liver cancer.

AIM:To establish a method of determining effective components in Qianjin Shenanning Pills(Flemingia Philippinensis Merr.et Rolfe,Radix et Rhizoma Ginseng rubra,Radix et Rhizowa Notoginseng,etc). METHODS: The contents of ginseng saponin Rg_1,Rb_1 and notoginseng saponin R_1 were determined by HPLC. RESULTS: The four effective components could be separated and purified by macroporous adsorptive resins of D_(101) and n-butanol,and their contents could be determined. CONCLUSION: The method is simple,feasible and reproducibility is good,it can be used as quality control in medicinal preparation.

Objective To investigate the effect of perioperative anesthesia management on postoperative complications of laparoscopic operation for elderly patients,and to provide reference for the clinical anesthesia man-agement.Methods 90 elderly patients who received laparoscopic surgery were randomly divided into observation group and control group,45 cases in each group.The control group was treated with the routine intervention of the perioperative anesthesia management,and the observation group was given to strengthen the perioperative anesthesia management.The intubation,skin incision,withdrawal of blood pressure,heart rate changes before surgery,and abnor-mal blood pressure,chills,hypoxemia,ischemic heart disease,incidence of complications after surgery were compared between the two groups.Results Before surgery,the withdrawal of the systolic blood pressure,diastolic blood pres-sure,heart rate between the two groups had no statistically significant differences (P >0.05 ).In the observation group,during tracheal intubation for systolic blood pressure (136.92 ±19.57 )mmHg,diastolic blood pressure (84.57 ±12.39)mmHg,after skin incision systolic blood pressure (126.93 ±16.68)mmHg,diastolic blood pressure (78.43 ±11.76)mmHg,which were significantly higher than those in the control group (P <0.05).In the observa-tion group,during tracheal intubation the heart rate was (74.46 ±11.28)/min,which was significantly lower than the control group (P <0.05),abnormal blood pressure of the patients in the observation group was 8 cases,2 cases of shivering,hypoxemia in 1 case,the incidence rate of postoperative complications was 24.44%,abnormal blood pres-sure after surgery in the control group had 15 cases,4 cases of shivering,hypoxemia in 5 cases,ischemic heart disease 2 cases,the incidence rate of postoperative complications was 57.78%.The incidence of postoperative complications in the observation group was significantly lower than that of the control group (χ2 =14.58,P <0.05).Conclusion To strengthen the perioperative anesthesia management helps to reduce the blood pressure and heart rate fluctuations during perioperative period,and can reduce the incidence of postoperative complications and improve the safety of anesthesia.

BACKGROUND: Autism is a kind of severe growth and development disorder that occurs in the infant period. It is basically characterized by social communication disorder, language development disorder, narrow area of interest, and stereotyped and repeated behavior to different extents, and is increasing in the worldwide. Education training is still taken as the major for the rehabilitation therapy of autism.OBJECTIVE: Case analysis is performed to provide elicitation for mainstreaming education training of children with autism and proper suggestions for education worker and children patients' parents.DESIGN: Case analysis.SETTING: Department of Rehabilitation, Nanjing Technical College of Special Education; Nanjing Shangxinhe Primary School.PARTICIPANTS: One male child patient, born in June 1998, was diagnosed as autism by Shenyang Children's Hospital. They met the diagnostic criteria of infantile autism of the 4th edition of diagnostic and statistical manual of mental disorders (1994, USA).METHODS: Comprehensive intervention was performed in the child with autism for 5 months. Education measures consist of: ① to well accept class learning. ② showing merits in class. ③ to well apply learning contents in life. ④ to establish friendship. ⑤ to establish good behaviors and eliminate abnormal behaviors. ⑥ to pay more attention in class.⑦ to train the perceptivity in class. ⑧ to choose proper examination methods. ⑨ to establish pleasant and confluent plate time. The procedures were as follows: we had one telephone interview to the teachers and parents of child patient every day, one face-to-face communication with the teachers, parents and classmates of child patient every week. Education strategy was regulated in time aiming to the concrete condition of child patient.Wechsler Intelligence scale was used to measure the intelligence quotient (IQ) at the beginning and end of the experiment. The changes in behavioral performance in class and playtime of patient were summed up.MAIN OUTCOME MEASURES: ① The measurement results of Wechsler IQ of patient at the end of the experiment. ② Changes in the behavioral performance of patient in class. ③ Changes in the behavioral performance of child patient in playtime.RESULTS: ① Measurement results of Wechsler IQ of patients at the end of the experiment were as follows: verbal IQ 80 points, performance IQ 110 points, full scale IQ 95 points. There was 30-point discrepancy between performance IQ and verbal IQ, and 9 points between the highest and lowest scores. The imbalance of intelligence development had turned better.② Changes in behavioral performance in class: The child patient was basically the same as other children. He could attend a class silently, followed the teacher to learn, did not disturb class, and show his brilliance with proper style. ③ Changes in the behaviors in playtime: made friends; was interested and participated in the games of the classmates, entered the classroom when he heard the ring without the help from the teacher.CONCLUSION: After 5-month rehabilitation training, the mainstreaming status of patient with autism is significantly improved as compared with before intervention. Application of various rehabilitation-training methods can improve the education effect of patient with autism.