Child ; Ectodermal Dysplasia ; diagnosis ; genetics ; Family Health ; Genes, Recessive ; genetics ; Humans ; Male ; Sex Factors

Objective To investigate the damage mechanism of fluetuant high glucose on the INS-1 cells (pancreatic β-cell lines).Methods The cells were divided into five groups:the control groups (A group:5.5 mmol/L of glucose),the continuing high glucose group (B group:16.7 mmoL/L of glucose),the fluctuant glucose group ( C group:16.7 mmol/L of glucose for cultivation for 2 h,then the concentration changed to 5.5 mmol/L for cultivation for 3 h,which was repeated 3 times per day;the ceils were kept in the medium containing 5.5 mmol/L of glucose during night time for 9 h),the continuing high glucose plus NAC ( 1.0 mmo/L) group ( D group),the fluctuant glucose plus NAC group ( E group).The intracellular reactive oxygen species (ROS) was observed by the flow cytometry.The activity of glucose-6-phosphate dehydrogenase (G6PD) was estimated by the tetrazolium linked cytochemical method.Results 72 h after intervention,the levels of ROSwere 37.77±2.31,86.97±7.97,124.27±10.04,60.92±2.61 and 51.47±3.36,respectively,in A～E group;the activities of G6PD were 1.25±0.03,1.09±0.02,1.03±0.01,1.12±0.02 and 1.21±0.01,respectively;the levels of NADPH were (0.123±0.003) mmol/mg prot,(0.112±0.004) mmoL/mg prot,(0.099±0.002 ) mmol/mg prot,( 0.116±0.005 ) mmol/mg prot and ( 0.120±0.002) mmol/mg prot,respectively.The level of ROS in the cells of the fluctuant glucose group were significantly higher than that in the continuing high glucose group ( P ＜ 0.01 ).The G6PD activity and NADPH was significantly lower in fluctuant high glucose group than those in the continuing high glucose group (P ＜0.01 ).NAC co-cultivation decreased the extent of cell's change.Conclusions Exposure of INS-1 to high glucose lead to increased oxidative stress, possible mechanism included decreased G6PD activity and subsequent imbalance between oxidation and reduction.

Objective　To approach the relationship betwe en glycosaminoglycan metabolism in cartilages and pathogenesis of KBD.Methods　Rhesus monkey was fed with grains and water from KBD endemic area for 18 months to produce the animal model with KBD . The glyc osaminoglycans in the monkey cartilage were extracted by the improved Dish method of Bitter. Purified glycosaminoglycans were digested with chondroitinaseABC, and the enzymatic digests were analyzed by HPLC. Results　Comparing with those of the control, the glycos aminoglycans in the head of femur, tibia plateau and costal cartilage from the Rhesus monkey fed with grains and water from KBD endemic area were undersulfated . Decreased unsaturated 4-sulphated disaccharide (△Di-4S) from the glycosa minoglycans in the head of femur and tibia plateau and decreased unsaturated 6- sulphated disaccharide (△Di-6S) from the glycosaminoglycans in the costal cart ilage were discovered.Conclusions　Detrimental factors in grains and water from KBD endemic area cause undersulfate of the cartilages glycosaminoglycans from Rhesus monkey. The glycosaminoglycans changes have a direct bearing on the patho logical alterations in morphology on the cartilages from the animal model with K BD.

Five compounds were isolated from marine sponge Aplysinopsis sp.collected from the South China Sea.Their structures were elucidated by ~1H-NMR,~(13)C-NMR and MS as (E)-3'-deimino-3'-oxoaplysinopsin(Ⅰ),(Z)-3'-deimino-3'-oxoaplysinopsin(Ⅱ),3-(2- oxopropyl )- 3-hydroxyind-olin-2-one(Ⅲ),1H-indole-3-carboxaldehyde(Ⅳ),5?,6?-epoxystigmasta -7-en-3?-ol(Ⅴ).CompoundsⅢ,Ⅴwere isolated from Aplysinopsis sp.for the first time.

Antibody-drug conjugate (ADC) has become an effective method for treating various diseases, especially cancer, due to its clear target and good selectivity in clinical practice. However, the monoclonal antibodies in traditional ADC have poor tissue permeability, high modification costs, pose risks such as immunogenicity and immunotoxicity. The nanobody (Nb) which is extracted from the blood of camel animals, is the smallest antibody fragment known to have complete antigen binding ability. It has advantages such as strong tissue permeability, strong specificity, low immunogenicity, and high stability, and can replace traditional monoclonal antibodies to participate in the construction of nanobody-drug conjugate (NDC). This article reviews and discusses the advantages of Nb structure, the construction and application of NDC in the hope of providing ideas for the research and development of NDC.

Objective To analyze the genetic model of attention deficit hyperactivity disorder(ADHD).Methods The segregation analysis and polygenic multiple threshold model were used to prove the polygenic model and to estimate the heritability and recurrence risk of ADHD in each degree relatives.Results 1. The average heritability of ADHD was (102.47?9.78)%;2.The first-degree relatives of probands were in high risk for ADHD(23.0%)compared with colony prevalence rate(2.6%). The ADHD prevalence of each degree relatives rapidly decreased with the increased magnitude of consanguineous relationship of each degree relatives and ADHD probands. Conclusions The genetic model of ADHD is the most likely polygenic inheritance with major genes, which suggested that the genetic factor might play an important role in the liability variance of ADHD.Apart from the involvement of multiple genes,each gene contributes a small additive effect,and the major genes may be involved as well.

· AIM: DLAD (DnaseII-like acid Dnase) is an acid DNase that is highly expressed in human and murine lens fibre cells. Recently, the DLAD-/- mice with a deficience in DLAD gene were reported to develop nuclear cataract.To elucidate whether a deficient DLAD gene can cause some human cataract, we studied autosomal dominant nuclear catarat in 6 families and analysed linkage between cataract and DLAD locus.·METHODS: Two-point Lod score values were obtained for markers D1S551 and GATA65B07.· RESULTS: The results show negative Lod scores (z=-∞ at θ =0), so linkage was excluded between the defect and DLAD locus in these families.·CONCLUSION: no evidence for cataracts in these families linkage to chromosome 1p22.3, the DLAD locus.

Objective: To study expression of the gene of n-6 fatty acid desaturase fat-1 in human breast cancer cell, composition change of fatty acids of cell membrane, and effect of the gene on apoptosis of breast cancer cell. Methods: Construct recombinant adenovirus vector (Ad.GFP.fat-1) containing fat-1 gene, the recombinant adenovirus was produced in 293 package cell, then it infected the breast cancer cells MCF-7; Total RNA of the cells was isolated and hybridized with antisense RNA probe of fat-1 mRNA by Northern to analyze the expression of fat-1 in MCF-7;The effect of fat-1on the proliferation of MCF-7 cell was analyzed by MTT method,apoptosis of the cells were detected by apoptosis kit;Content of n-6 PUFAs/n-3 PUFAs was analyzed by Gas Chromatography. Results: The proposed recombinant virus was got through DNA recombinant technique; fat-1 gene effectively expressed in human breast cancer cell MCF-7; The fat-1 mRNA band appeared 2 days after infection of virus Ad.GFP.fat-1;Compared with the control cell (Ad.GFP), proliferation of MCF-7 cell was markedly inhibited by the gene fat-1( 23%, p

Purpose To investigate the expression of XBP-1s and ADRP in kidney of diabetic rats. Methods Diabetic rat models were successfully established by intraperitoneal injection of STZ. After two months rats were sacrificed and XBP-1s and ADRP were de-tected by immunohistochemistry and Western blot. Results XBP-1s and ADRP were located in renal tubular cells and increased by a-bout 2. 017 times and 1. 544 times in comparison with normal control rats (P<0. 05). Moreover, it was shown that high expression of XBP-1s was commonly accompanied with increased ADRP by Pearson correlation analysis and the correlation coefficient was 0. 723 (P<0. 05). Conclusion The increased XBP-1s may cause the up-regulation of ADRP in the kidney of diabetic rats.

Theultraperformanceliquidchromatographycoupledwithmassspectrometry(UPLC-MS)was used to investigate the metabolic difference of the decoction of Radix Aconiti Preparata ( RAP ) and its co-decoctions with Radix Paeoniae Alba ( RAP-RPA ) or Radix Stephaniae Tetrandrae ( RAP-RST ) in rat intestinal bacteria. The principal component analysis ( PCA) of the relative contents of Aconitum alkaloids after metabolism was performed by SIMCA-P software. The score plots of PCA could successfully distinguish the three groups of RAP, RAP-RPA and RAP-RST. The result indicated that the differences of biotransformation among the groups of PAP, RAP-RPA and RAP-RST were significant. With the loading plot and independent-samples T test, seven relevant markers with the significant differences were found in the group of RAP-RPA, six relevant markers were obtained in the group of RAP-RST. The relative content of four markers in RAP-RPA was higher than that in RAP, and one marker in RAP-RST was higher than that in RAP. The relative contents of other markers were all lower than that in RAP. These markers may be the effective substance for explaining the different effects of Radix Aconiti Preparata before and after combination with Radix Paeoniae Alba and Radix Stephaniae Tetrandrae.