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 evaluate the clinical value of magnetic resonance diffusion weighted imaging (DWI)in T staging of rectal cancer.Methods Rectal cancer patients were accepted in our hospital from January 2015 to December 2015.Rectal cancer patients were examined with T2 weighted imaging (T2 WI)and magnetic resonance DWI and given preoperative T staging.The sensitivity,specificity and accuracy of T2 WI and T2 WI combined with DWI in the diagnosis of DWI staging of rectal cancer were compared,and the relationship between the apparent diffusion coefficient (ADC value)and T staging of rectal cancer was analyzed.Results The accurate rate of T2 WI in diagnosis was 65.22%(60 /92),T2 WI and DWI diagnosis accurate rate was 76.09% (70 /92).The two diagnostic methods of colorectal cancer T staging diagnosis accurate rate had no significant difference (χ2 =1.18,P >0.05). Patients with good prognosis (T2 and T3 a)ADC value were significantly higher than the patients with poor prognosis in patients with ADC (T3 b,T3 c and T4 ),and the differences were statistically significant (all P <0.05).Conclusion DWI can be used as a complementary sequence for the diagnosis of T staging of rectal cancer by T2 WI.It had better consistency with pathologic stage.The ADC value of the tumor showed a decreasing trend along with the progression of T staging of rectal cancer,and provided reliable reference information for the preoperative treatment plan.

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.

Objective To study the cryptosporidiosis infection among young children in 29 kindergartens in the province, and to explore the best way to diagnose the infection. Methods Stool specimens of 1 204 children were collected, oocysts of Cryptosporidium were identified with auarmine O-modified staining, acid-fast staining, safranine T and methylene blue staining, and auarmine O-modeified acid-fast staining. Results The detection rate of Cryptosporidium in four stainings were 2.46%,1.50%,1.98% and 3.46% respectively, and the rate was significantly higher by auarmine O-modified acid-fast staining than other stainings (P

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.