Hereditary disease, especially monogenic disease is one of the major causes for malformation and disability of children. Most hereditary diseases have no effective therapy besides clinical symptomatic treatment. Biological techniques targeting casual genes or related signaling genes, such as transgenic, RNA interfere, genome editing, have been successfully applied in treating some hereditary diseases. However, most biological, treatments were carried out in animals, further confirmation of the effectiveness and safety of these therapies, and development of more therapeutic approaches based on mechanisms are needed before clinical trials.
Animals ; Biological Therapy ; Disease Models, Animal ; Genetic Diseases, Inborn ; therapy ; Genetic Therapy ; Humans

BACKGROUND: Recently, it is investigated that shell of plantain seed is a soluble dietary fiber which can be added into foods to regulate content of cholesterol.OBJECTIVE: To investigate the interventional effect of plantain seed on lipid and its lipid peroxidation in rats with hyperlipidemia.DESIGN: Completely randomized grouping design and controlled animal study.SETTING: Laboratory of Pharmacology and Toxicology for New Drug in Hebei Province.MATERIALS: ① A total of 24 healthy SD rats, of grade I, aged 60-70 days, weighting (210±22) g, of either gender, were selected in this study. ② Basic feed was provided by Experimental Animal Center in Hebei Province,and the fractional mass of each component was mentioned as following:flour 0.25, bran 0.1, corn dust 0.22, bean cake 0.22, fish dust 0.02, bone dust 0.02, grass dust 0.05, salt 0.01, yeast dust 0.02, and sunflower seed 0.03. High fat feed was provided by Experimental Animal Center in Hebei Province, and the fractional mass of each component was mentioned as following: basic 0.9, cholesterol 0.015, lard 0.08, and hyocholic salt 0.003.③ Lipid kit was provided by Baoding Changcheng Clinical Reagent Company, and kits of superoxide dismutase (SOD), catalase (CAT),glutathione peroxidase (GSH-Px) and malondialdehyde (MDA) were provided by Nanjing Jiancheng Bioengineering Institute.METHODS: The experiment was completed at the Laboratory of Pharmacology and Toxicology for New Drug in Hebei Province from June to December 2004. ① All 24 rats were randomly divided into 3 groups:normal control group, model group and plantain seed group with 8 in each group. Rats in the normal control group were fed with basic feed. Rats in plantain seed group were fed with high fat feed + 15 g/kg plantain seed and drank routinely. Experimental rats were fed in cages, respectively.Each one was fed with 25 g/d food and drunk freely. The experimental cycle was 12 weeks. ② At the end of experiment, rats were anesthetized to assayed levels of serum triacylglycerol (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), serum SOD and MDA, activities of CAT and SOD in myocardial tissue, content of MDA, and activities of CAT and GSH-Px in hepatic tissue with related kits. ③ Measurement data were compared between each two group with t test.MAIN OUTCOME MEASURES:Comparison of serum lipid level and anti-oxidation among groups at 12 weeks after modeling.RESULTS: All 24 rats were involved in the final analysis. ① At 12 weeks after modeling, activities of SOD in serum and myocardial tissue were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05), but levels of MDA in serum and myocardial tissue were higher in model group than those in normal control group and plantain seed group (P ＜ 0.05). ② At 12weeks after modeling, activities of CAT and GSH-Px in serum and myocardial tissue were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05). ③ At 12 weeks after modeling, levels of TC and TG in serum were higher in model group than those in normal control group and plantain seed group (P ＜ 0.05), but level of HDL-C and ratio between HDL-C and TC in serum were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05).CONCLUSION: Plantain seed at dosage of 15 g/kg can decrease content of lipid and strengthen anti-oxidation of economy in rats with hyperlipidemia.

Objective To analysis the role of adiponectin, insulin like growth factor -1 in elderly chronic heart failure.Methods 92 elderly patients with chronic heart failure were selected and divided into control group and experiment group.46 cases of the control group were treated with conventional treatment including strong heart, diuresis, vasodilator,lowering blood pressure, the experimental group was on the basis of routine treatment with catechin, 50 mg/kg orally, 1 times a day.2 weeks as a course, 1 course of treatment.Adiponectin, insulin like growth factor -1,BNP,LVEDD, LVESD and LVEF were compared before and after treatment.Results After treatment, the total effective rate of observation group was 93.48%, the control group total effective rate was 76.09%.The total effective rate of observation group was significantly higher than that of the control group (χ2 =5.39, P <0.05 ).After treatment, BNP, Adp in two groups decreased, IGF-1 increased, compared with control group, BNP, Adp level of the experiment group were lower, IGF-1 was higher(P<0.05),and LVEDD and LVESD of the experiment were lower, LVEF was higher, (P<0.05). Conclusion Catechins can decrease the serum levels of adiponectin, elevate insulin like growth factor-1, improve the degree of heart failure, is worthy of clinical application.

OBJECTIVETo conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.

METHODSPotential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.

RESULTSMLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.

CONCLUSIONThe causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.

Child, Preschool ; Dystrophin ; genetics ; Exons ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Mutation

A video image recorder to record video picture for wireless capsule endoscopes was designed. TMS320C6211 DSP of Texas Instruments Inc. is the core processor of this system. Images are periodically acquired from Composite Video Broadcast Signal (CVBS) source and scaled by video decoder (SAA7114H). Video data is transported from high speed buffer First-in First-out (FIFO) to Digital Signal Processor (DSP) under the control of Complex Programmable Logic Device (CPLD). This paper adopts JPEG algorithm for image coding, and the compressed data in DSP was stored to Compact Flash (CF) card. TMS320C6211 DSP is mainly used for image compression and data transporting. Fast Discrete Cosine Transform (DCT) algorithm and fast coefficient quantization algorithm are used to accelerate operation speed of DSP and decrease the executing code. At the same time, proper address is assigned for each memory, which has different speed;the memory structure is also optimized. In addition, this system uses plenty of Extended Direct Memory Access (EDMA) to transport and process image data, which results in stable and high performance.
Algorithms ; Capsule Endoscopy ; methods ; Data Compression ; methods ; Equipment Design ; Humans ; Image Processing, Computer-Assisted ; instrumentation ; methods ; Signal Processing, Computer-Assisted ; instrumentation ; Software

Baeyer-Villiger monooxygenases, a well-studied class of flavin-dependent enzymes, catalyze the conversion of ketones to lactones or esters and the oxygenation of heteroatoms, which possesses great practical prospect in synthetic chemistry and biocatalysis. In this review, we focus on Baeyer-Villiger oxidations involved in biosynthesis of microbial secondary metabolites and discuss the characteristics of these Baeyer-Villiger oxidations and Baeyer-Villiger monooxygenases, to provide reference for the protein engineering of Baeyer-Villiger monooxygenases.
Biocatalysis ; Catalysis ; Mixed Function Oxygenases ; Oxidation-Reduction ; Protein Engineering

OBJECTIVE To separate and identify the chemical constituents of the n-butanol fraction from the stems of Clerodendrum trichotomum ，and to investigate their antitumor activities in vitro . METHODS The ethanol extracts were obtained with 85% ethanol from dried stems of C. trichotomum. After dispersed with water ，ethanol extracts were distributed by petroleum ether，ethyl acetate and n-butanol in turn ，then concentrated under reduced pressure to obtain the fractions of each extraction part . The n-butanol fraction from the stems of C. trichotomum was isolated and purified by macroporous resin D 101 column chromatography and various chromatographic techniques including silica gel ，hydroxypropyl glucan gel and Toyopearl HW -40F macroporous resin and so on . The structures of them were identified by physical and chemical properties ，MS and NMR . All these compounds were evaluated for cytotoxic activities against 4 kinds of human tumor cells such as cultured K 562，MCF-7，A549 and HepG2，using the MTT assay . RESULTS Fourteen chemical constituents were isolated and identified as teuvincenone B （1）， uncinatone（2），villosin C （3），syringaresinol（4），syringaresinol-4ʹ-O-β-glucopyranoside（5），3，12-O-β-D-diglucopyranosyl-11，16- dihydroxyabieta-8，11，13-triene（6），glypentoside C （7），martynoside（8），isomartynoside（9），2-（4-hydroxyphenyl）ethanol-O-β-D- glucopyranosyl-（1→2）-O- β -D-glucopyranoside（10），3，4-dimethoxyphenyl-1-O- β -D-apiofuranosyl （1→2） - β -D- glucopyranoside（11）， 2，6-dimethoxy-4-hydroxy-1-O- β -D- glucopyranoside（12），adenosine（13）and cistanoside F （14）. In vitro anti-tumor activity studies showed that compounds 1-3 showed certa in inhibitory activities against tumor cellproliferation，among which compound 2 displayed the strongest inhibitory activity against MCF -7，A549 and HepG 2 cells，and their IC 50 values were 25.00，22.34 and 12.50 μmol/L respectively ；only compound 3 showed stronger inhibitory activity against K562 cell with IC 50 of 28.41 μmol/L. CONCLUSIONS Among them ，compounds 10 to 13 are isolated from genus Clerodendrum for the first time ，compounds 4，5，14 were isolated from C. trichotomum for the first time . The abietane diterpenoids （compounds 1-3）have better inhibitory activities against above four tumor cell lines .