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 explore the common pathogenic bacteria and medication in urinary tract infection in the patients with spinal cord injury (SCI). Methods 240 SCI patients were analyzed retrospectively in China Rehabilitation Research Center from January 2009 to October 2010, who were diagnosed as urinary tract infection (UTIs) according to urine culture and bacterial identification. Results The first 3 positions of pathogenic bacteria were Gram-negative bacteria, such as Escherichia coli (53.8%), Enterococcus (8.9%), and Klebsiella pneumonia (8%), while some patients were followed Gram-positive bacteria and fungal infections. Conclusion The clinically selected antibacterial drugs should be based on the bacterial culture and drug susceptibility test to promote the antibacterial drugs use rationally, frequently changing the medicine and continuing the administration of antibacterial drugs for a long period of time should be avoided.

Rare diseases, also known as "orphan diseases", refer to diseases with very low incidence. Countries and regions define rare diseases according to epidemiological standards, economic standards of rare drugs and disease severity. The World Health Organization (WHO) has suggested the prevalence rate of less than 6.5 to 10 per 10 000 people to define rare diseases. In May 2018, "China's First List of Rare Diseases" was released, including 121 rare diseases. Most rare diseases are hereditary diseases with early onset, severe disease, and poor prognosis. About 75% of rare genetic diseases occur in the neonatal period or childhood, which are important part of human birth defects and brings a huge burden to society and families. The effective prevention and treatment of rare diseases is one of the important goals of building a "Healthy China". With the development of molecular biology technology and the continuous research and development of advanced medical products in the field of gene therapy, the level of clinical diagnosis and treatment of rare diseases has risen to a new level, which provides a possibility for the cure of some rare diseases. In China, most rare diseases rely on imported drugs, which cost a lot and bring heavy economic burden to patients. Improving the medical insurance system for rare diseases has become a difficult point in the current medical reform. This paper mainly discusses the definition of rare diseases, the research status, efforts and future development direction of rare diseases in China, in order to deepen the understanding and response of medical workers and the whole society to rare diseases.

Objective　To summarize the phenotypic and genotypic characteristics of mitochondrial combined oxidative phosphorylation deficiency type 1 (COXPD1), and to improve the clinicians' awareness of this mitochondrial encephalomyopathy. Methods　The clinical characteristics, physical examination, laboratory examination and other data of a child with COXPD1 were analyzed retrospectively. The diagnosis was confirmed by clinical whole exon sequencing and high-precision mitochondrial genome full-length PLUS gene detection, and the phenotype and genotype were analyzed by reviewing relevant literature. Results　A one-year and five-month-old boy mainly presented with hyperlactacidemia and abnormal liver function. Clinical whole exon sequencing showed that the child had homozygous variation of c. 688G>A(p.G230S) in the GFM1 gene. Sanger sequencing verified that the variation was respectively inherited from the parents of the child (both were heterozygous) with the autosomal recessive inheritance pattern. The high-precision mitochondrial genome full-length PLUS detection also did not find pathogenic mutations related to clinical phenotypes. The child was diagnosed with COXPD1. After "cocktail" therapy and liver protection therapy, the patient's condition improved. Conclusions　The phenotype of COXPD1 is complicated and variable, mainly liver type and brain type. The mutation of GFM1 gene affects mitochondrial translation system function, and early gene detection is helpful for definite diagnosis.

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.

Through tracing literatures of TCM theories,this article discussed the theoretical basis for treating chloasma from liver.60 female chloasma patients were selected and treated with traditional Chinese medicine of dispersing the depressed liver qi.By observing the score of SDS and SAS,we analyzed the influence of emotion on female chloasma,and the effectiveness of treating chloasma from liver.The article believed that paying attention to regulate the whole body condition will exert a treating at fundamental causeof the disease.