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: Our aim was to investigate the relationship between tumor doubling time (TD) and the prognosis of patients with lung cancer.Methods:According to the diameter of tumor or its shadow,the TD of tumor was calculated and postoperative survival time (PST) were predicted based on the Geddes' nomogram.The statistic analysis was performed after comparison with the actual survival time (AST).Results:There was no significant difference of TD among tumors of different histological types (P>0.05).The accumulated survival in patients with TD>100 days was higher than those with TD<100 days, with a significant difference (P<0.05).The AST in patients underwent surgery was markedly higher than the PST,indicating that the operation was effective.Conclusion:Tumor TD may be a valuable parameter for evaluating the prognosis and surgical treatment in patients with lung cancer.

Early detection of HCC is critical for a good prognosis. Therefore, the development of tumor markers that can detect HCC at even earlier stages is urgent. Recent researches show that the human cervical cancer oncogene, gamma-glutamyl transferase mRNA, human telomerase reverse transcriptase mRNA, the proteins such as glypican-3, golgi protein 73, vascular endothelial growth factor and transforming growth factor-β1 could serve as markers for early detection of HCC.

Objective To observe spasmolytic effect of Qianlieantong tablets. Methods Twelve rabbits were randomly divided into 2 groups. One group was to prepare ring muscles, another was to prepare longitudinal muscles. Contraction of trigone muscle was induced by NE. Effects of 6 groups drug were observed, which were high, middle and low concentration Qianlieantong group, Hytrine group, blank group, Tween 80 group (TW-80). Results Qianlieantong tablets can significantly inhibit contraction of NE-inducted rabbit trigone muscle (including ring and longitudinal muscles) in vitro, and the inhibition was positively correlated with concentration, which was less than Hytrine. Conclusions Qianlieantong tablets had spasmolytic effect of alleviating BPH-induced badder outlet obstruction and reducing dynamic factors caused by BPH.

At present,nutrition therapy plays a very important role in critically ill children,which can impact on the development and outcome of the disease by the process of metabolism and immunity.Immune-modulating nutrients,such as glutamine,which is a current hot topic,but now there is a little research in it in critically ill children,and this paper summarizes the approach,the dose and the efficacy of glutamine in critically ill children,aiming to offer reference in clinics.

Objective To explore the expression of apoptosis regulating genes C jun and bcl X L after normothermic liver ischemic preconditioning and its clinical significance. Methods 16 cases of liver cancer were randomly divided into ischemic reperfusion(IR) group and ischemic preconditioning (IP) group (8 cases in each). The samples of venous blood were drawn before IR or IP procedure and 30 minute after reperfusion for testing ALT, AST and LDH. Meanwhile, samples of liver tissue were taken for study of hepatocellular apoptosis, expressions of C-jun mRNA、 Bcl-X L mRNA and PCNA and morphologic changes. Results The levels of ALT、 AST、 LDH and AI in IR group were significantly higher than those in IP group (P

Object In order to choose high hypericin content variety and its useful part, the study on the correlation between nodule density of different organs and hypericin content in Hypericum perforatum L was carried out Methods The nodule density of leaf, calyx and petal were observed under a Leica DMLB microscope; the hypericin contents of different organs were determined by HPLC Results Hypericin and its derivatives were not obtained from the root, fruit and leaf central part of H perforatum The hypericin contents of leaf margin, calyx, petal were 0 145 6%, 0 065 3%, 1 268 2%, respectively Conclusion The organs and parts with nodules contain hypericin and its derivatives There is positive correlation between the hypericin content and nodule density, but the other organs or parts without nodules don't contain such materials

AIM: To study the neuroprotective effect and possible mechanism of ganglioside GM1 on neonatal rats with hypoxic ischemic encephalopathy (HIE). METHODS: A rat model of neonatal HIE was established, then the pathological changes and expressions of glutamate and EAAC1 glutamate transporter in the brain tissues were investigated in different periods after hypoxia ischemia (HI) and the subsequent changes of the above results after GM1 administrated were studied too. RESULTS: The damages of the brain by exposed to HI were alleviated remarkably after GM1 administrated. The levels of glutamate neuron expressions in the brain tissue decreased after HI but EAAC1 increased. GM1 could partly prevent glutamate neuron reduction induced by HI and increase EAAC1 expression. CONCLUSION: GM1 may have some protective effects on glutamate neuron in neonatal HIE, and the possible mechanism is related to the partial increasing of EAAC1 expression.

Objective To discuss changes of anxiety and adverse reaction before and after chemotherapy for patients with breast cancer, giving selective nursing intervention for coping with chemotherapy in order to reduce patients pain and increase life quality. Methods The changes of anxiety level and adverse reaction degree of 50 patients with breast cancer after modified radical mastectomy were investigated with questionnaires before the first, second and third time of chemotherapy. Results The postoperative patients showed significant difference in total score of Rotterdam symptom checklist, score of physiological domain, psychological domain and state anxiety, among which the adverse reactions such as lack of appetite, fatigue, lack of energy, nausea, acid ingestion, sore mouth, hair lost, irritability, depressed mood and tension increased after beginning chemotherapy. Conclusions Nurses should help patients to understand correctly chemotherapy and its possible adverse reaction, teach them correct coping method in order to reduce uncomfortable symptom, promote whole rehabilitation and increase life quality.