Objective To investigate the clinical, pathological and dynamic imaging characteristics of patients with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes (MELAS). Methods A retrospective analysis was performed on the clinical,pathological and dynamic imaging data of 10 patients with MELAS confirmed by muscle biopsy. Results The clinical manifestations included headache,seizures,nausea,vomiting,nystagrnus and visual disturbances.CT showed less lesions,and MRI could clearly show multiple lesions which mainly located in the temporal,parietal,occipital cortex and sub-cortex,having multifocal,asymmetric,migratory characterstics and not following the distribution of blood vessels.MRA showed no significant stenosis,and the lesion showed hyperperfusion and vasogenic edema,and Lae peak was visible.Muscle biopsy showed ragged red fiber optical microscope (RRF) and strongly SDH-reactive vessel (SSV),and electron microscope showed increased mitochondria number, and abnormal size and shape. Conclusion MELAS has certain clinical and imaging characteristics; by combining the muscle biopsy,we can diagnose the disease early and make differential diagnosis.

Objective To characterize genotypic resistance within HBV RT region in chronic hepatitis B (CHB) patients with nucleos(t) ide analogue (NA) treatment.Methods Serum samples of 229 CHB patients with NA treatment were obtained.Full-length HBV RT sequences were amplified,sequenced and analyzed,on the following NA resistant (NAr) mutations belonging to different NAr pathways.Results Among 229 HBV isolates,14.41％ (33/229) and 85.59％ (196/229) were genotype B and C,respectively;and the patients with HBV genotype C may be more susceptible to develope resistant mutations than patients with HBV genotype B (x2 =2.95,P ＜ 0.05).NAr mutations were detected in 63 CHB patients.Mutations were not found at rtI169,rtT184,rtA194 or rtS202.RtM204 mutations were detected at the highest frequency among 63 mutants (40/63,63.49％) and found to display 11 combination mutation patterns,in which rtM204I were associated with rtL80I/V and rtL180M,and rtM204V were associated with rtL180M,respectively.Conclusions There are complicated mutation patterns in the HBV RT region for chronic hepatitis B (CHB) patients with nucleos(t) ide analogue (NA) treatment.RtM204V/I mutation was the highest.

OBJECTIVE To observe the regulation of Xiaofeng Xuanqiao Decoction(XFTQ)on abnormal metabolites by an-alyzing the changes of endogenous metabolites in urine of anaphylactic rhinitis(AR)mice,and to explore the mechanism of Xi-aofeng Xuanqiao Decoction on treating AR from the perspective of metabonomics.METHODS 60 BALB/c mice were divided into normal group,model group,montelukas group and XFTQ group.Intraperitoneal injection of OVA and local nasal mucosa stimulation was used to establish AR model.Montelukast group and XFTQ group were given montelukast sodium tablets and Xiaofeng Xuanqiao decoction,respectively,for 7 d.Urine samples were collected from each group on the last day of adminis-tration.UPLC/LTQ-Orbitrap-MS was applied to analyze the metabolic profile changes of each group and the intervention mechanism of drugs.RESULTS AR disordered the metabolism of acid,amine and others in mice.Xiaofeng Decoction mainly regulated the levels of 14 kinds of abnormal metabolites,and it showed good intervention effect on AR mice.CONCLUSION Small molecule metabolites in AR mice are deviated from the normal group.Xiaofeng Xuanqiao Decoction improves the histi-dine metabolism and cysteine and methionine metabolism to achieve therapeutic effect,mainly through the up-regulation of asymmetric dimethyl-arginine(ADMA),N-methylnicotinic acid,S-adenosyl-L-methionine(SAMe),indole-2-carboxylic acid (I2CA),6-aminocaproic acid(EACA),imidazole-4-acetic acid,1-methyl-4-pyridone-5-carboxamide(M4PY),and the down-reg-ulation of 1-methylhistamine.

OBJECTIVETo identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.

METHODSGenomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.

RESULTSThe mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.

CONCLUSIONThe hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.

Activin Receptors, Type II ; genetics ; Aged ; Antigens, CD ; genetics ; Base Sequence ; Codon, Nonsense ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Pedigree ; Point Mutation ; Receptors, Cell Surface ; genetics ; Telangiectasia, Hereditary Hemorrhagic ; genetics ; pathology

Objective The leptin receptor,encoded by the LEPR gene,is involved in tumorigenesis.A potential functional variant of LEPR,rs1137101(Gln223Arg),has been extensively investigated for its contribution to the risk of digestive system(DS)cancers,but results remain conflicting rather than conclusive.Here,we performed a case-control study and subsequent meta-analysis to examine the association between rs1137101 and DS cancer risk. Methods A total of 1,727 patients with cancer(gastric/liver/colorectal:460/480/787)and 800 healthy controls were recruited.Genotyping of rs1137101 was conducted using a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)assay and confirmed using Sanger sequencing.Twenty-four eligible studies were included in the meta-analysis. Results After Bonferroni correction,the case-control study revealed that rs1137101 was significantly associated with the risk of liver cancer in the Hubei Chinese population.The meta-analysis suggested that rs1137101 is significantly associated with the risk of overall DS,gastric,and liver cancer in the Chinese population. Conclusion The LEPR rs1137101 variant may be a genetic biomarker for susceptibility to DS cancers(especially liver and gastric cancer)in the Chinese population.

OBJECTIVETo explore the prevalence of vision, mental, audibility, language, psychiatry, extremity, and influence factors in the 0 - 7 year olds.

METHODSA total number of 77,727 0 - 7 year old children living in Shenzhen city were tested with tree phase screening under the Chinese standard of evaluation in disabilities.

RESULTSThe prevalence of all disabilities was 5.59 per thousand (adjusted rate was 8.49 per thousand with a false negative of 3.1 per thousand ). The prevalence of mental disease was the highest (1.88 per thousand, with adjusted rate 3.43 per thousand ), the prevalence of language disability was 1.88 per thousand (including retarded language development, with adjusted rate 3.43 per thousand ). The prevalence rates of psychiatry, extremity and audibility disability were 1.59 per thousand, 1.56 per thousand, 1.11 per thousand respectively with of vision the lowest (0.37 per thousand ). The prevalence of all disabilities, audibility, language and mental was on the increase with age. The difference was statistically significant. Among all different age groups regarding psychiatric disease, the highest fell in the 2 - 4 year olds. The prevalence of extremity was not statistically different among age groups. The suspected agents of disease which occurred before or during pregnancy took up 45.7%.

CONCLUSIONThe prevalence of six kinds disabilities in Shenzhen was about 10 per thousand lower than that of the samples of the nation in 1989, but two times higher than that of similar studies in Japan. The prevalence rates of language and psychiatric disease were higher than that of the nation in 1989. The causation should be further studied.

Age Factors ; Child ; Child, Preschool ; China ; epidemiology ; Cross-Sectional Studies ; Disabled Children ; Female ; Humans ; Infant ; Infant, Newborn ; Language Disorders ; epidemiology ; Male ; Mental Disorders ; epidemiology ; Prevalence ; Vision Disorders ; epidemiology

The changes of endogenous metabolites in urine samples that come from pneumonia patients of 6 months to 6 years old children were analyzed by metabolomics methods based on gas chromatography and mass spectrometry (GC-MS).The aim of this study was to analyze and study the pathogenesis of endogenous metabolites in children with pneumonia and the pathogenesis of pneumonia susceptibility.The urine samples were collected and divided into normal children group (NC group,n=29),first infection with pneumonia group (FIP group,n=35),and repeated infection with pneumonia group (RIP group,n=31).The urine metabolic profile of pneumonia was obtained by GC-MS.Principal component analysis(PCA) and partial least squares-discriminant analysis (PLS-DA) were used to analyze the data.The results were analyzed by one-way analysis of variance and Fold change.Finally,there was significant difference between the normal group and the pneumonia group,the significant metabolites were serine,histidine,proline,norleucine,glutamine,stearic acid,valine,isoleucine with p value<0.05 and Fold change>5,and indole-3-acetic acid,creatine,ethanolamine,mannosylglycerol and fructose were significant between the two pneumonia groups with p value<0.05.The urinary metabolites demonstrated that amino acid metabolism and glucose metabolism were the main metabolic pathways and responsible for the susceptibility to pneumonia.

OBJECTIVE: To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou. METHODS: Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray. RESULTS: In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time. CONCLUSION The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.

Objective To investigate the attributable risk(AR)of Acinetobacter baumannii(AB)infection in criti-cally ill patients.Methods A multicenter retrospective cohort study was conducted among adult patients in inten-sive care unit(ICU).Patients with AB isolated from sterile body fluid and confirmed with AB infection in each cen-ter were selected as the infected group.According to the matching criteria that patients should be from the same pe-riod,in the same ICU,as well as with similar APACHE Ⅱ score(±5 points)and primary diagnosis,patients who did not infect with AB were selected as the non-infected group in a 1:2 ratio.The AR was calculated.Results The in-hospital mortality of patients with AB infection in sterile body fluid was 33.3％,and that of non-infected group was 23.1％,with no statistically significant difference between the two groups(P=0.069).The AR was 10.2％(95％CI:-2.3％-22.8％).There is no statistically significant difference in mortality between non-infected pa-tients and infected patients from whose blood,cerebrospinal fluid and other specimen sources AB were isolated(P＞0.05).After infected with AB,critically ill patients with the major diagnosis of pulmonary infection had the high-est AR.There was no statistically significant difference in mortality between patients in the infected and non-infec-ted groups(P＞0.05),or between other diagnostic classifications.Conclusion The prognosis of AB infection in critically ill patients is highly overestimated,but active healthcare-associated infection control for AB in the ICU should still be carried out.

Objective: To investigate the effects of the active ingredients combined therapy on inflammatory factors interleukin 1 beta (IL-1β) and neuropeptide Y (NPY) based on pharmacodynamics in rats. Methods: The animal model was built by transient middle cerebral artery occlusion (MCAO). The method for evaluating the concentrations of the FA-Pr-Al components in rat plasma was established by using HPLC and the expression levels of IL-1β and NPY were determined by ELISA. A new mathematics method of the trend of percentage rate of change (PRC) was used to assess the correlation between pharmacokinetics (PK) and pharmacodynamics (PD). Results: FA-Pr-Al in combination reduced neurological deficits, decreased infarct volume and inhibited the expression levels of IL-1β and NPY (all P<0.05) compared with the model group. FA, Pr and Al all displayed two compartment open models in rats. Clockwise hysteresis loops were obtained by time-concentration-effect curves. IL-1β and NPY level changes in the plasma followed an opposite trend to the plasma concentration tendency after Cmax was reached. Astragaloside's PRC value was significantly higher than those of FA and puerarin between 120 to 180 min. Conclusions: The pharmacokinetics of FA-Pr-Al in combination were closely related its pharmacodynamics in treating ischemia/reperfusion injury, and the components of FA-Pr-Al may have a synergistic pharmacological effect. Astragaloside may play a more pronounced role in regulating IL-1βand NPY levels compared with puerarin or FA.