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.

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

Nearly 50% patients with head and neck cancer after radiotherapy will recurrence in the previous radiation fields.Salvage surgery is the first choice of treatment.Clinical studies have shown that a small number of patients with recurrent head and neck cancer can benefit from salvage surgery plus postoperative re-irradiation or re-irradiation with or without chemotherapy or targeted therapy,and these patients can achieved tumor control and long-term survival.However, the overall efficacy is not satisfactory, and often accompanied by severe acute and late, and even fatal treatment-related toxicity.Therefore, it is necessary to give full consideration to the condition of recurrent tumor, the first radiotherapy related factors and the patient′s related status before implementation of re-irradiation.The development of radiotherapy technology and comprehensive treatment, including the clinical application of proton and heavy ion and immune therapy, provides the possibility of improving the prognosis and reducing treatment-related toxicity for these patients.

Objective To study changes of serum enzymes among acute mesenteric vasculopathy (AMV) and several surgical acute abdomens for early diagnosis of acute mesenteric vasculopathy.Methods Rabbit models were established for acute mesenteric artery ischemia,acute mesenteric venous ischemia,acute mechanical ileus,acute strangulated intestinal obstruction,acute gastric perforation,acute pancreatitis,sham group,blank control group.Serum enzymes were tested after 0,1,3,6,9 h.Result Compared with blank control,acute mesenteric vasculopathy experienced significantly alterations of the serum enzymes.ALT (alanine aminotransferase),ALP (alkaline phosphatase),r-GT (glutamyl transferthe enzyme) were significantly higher after mesenteric veins blocked 3 hours,LDH (lactate dehydrogenase) was significantly higher after mesenteric venous blocked 6 hours (P ＜ 0.05).ALT was significantly higher after mesenteric artery blocked 6 hours (P ＜ 0.05).Elevated ALT were statistically different in acute mesenteric vasculopathy compared with blank control,sham group,gastric perforation,mechanical ileus,and strangulated intestinal obstruction (all P ＜ 0.05) ; r-GT level was statistically different between acute mesenteric artery ischemia and acute mesenteric venous ischemia.Conclusions Mesurements of serum enzymes level are helpful to make early diagnosis of acute mesenteric vasculopathy.

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.

This article outlines the arising, the research content, the related ethical issues and the future de-velopment of public health ethics. The related ethical issues contains the ethical issues of disease prevention and control, the ethical issues in group unit, the ethical issues in public health policy-making, the ethical issues un-der the influence of biological science, and ethics review issues related with the thinking methoods namely moderate diversity, avoiding the socialism and in a relationship. The last, the article points out the human subjects in bio-medical researches.

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.

Kidney remodeling is a response to intrinsic or extrinsic triggers of kidney injury.The response potentialy control life-threatening dangers and to regain homeostasis,including tissue repair,inflammation to control the risk of infection,epithelial repair,scar resolution or minimization.Mesangial cell involved in clotting,fibrinolysis,triggering glomerular inflammation and mesangioproliferative disorders.Mesangial cell may play an important role in the devoloping of glomerular diseases and in controlling the risks of these diseases.

Objective To investigate the change of the concentration of IL-2?IL-6?IL-10 in peripheral blood and cerebral spinal fluid (CSF) in monkey's experimental allergic encephalomyelitis (EAE),as to explaining it's function in mechanism and prognosis of the disease. Methods First set up animal models of monkey's EAE. Then separate the animals by their onset symptoms according to the level and the different stages of disease. At the same time survey the blood and CSF concentrations of IL-2?IL-6?IL-10, finally process the findings statistically. Results IL-2 in the first or the third week in the acute stage of EAE (5.0?0.8 and 5.3?1.2,respectively) was obviously higher than that (0.7?0.3) before the onset,P=0.045,0.041 respectively,both IL-6 and IL-10 in recuperation or chronic stage were higher significantly than before the onset,P=0.004 3,0.006 5 respectively. The findings were significant statistically. Conclusion IL-2 up-regulates immunologically,which accelerates the disease. IL-6 and IL-10 down-regulate immunologically,which reduce the disease. The findings may play an important role in studying immunological mechanism of EAE or MS in the future.