Objective To identify mutations site and clinical characteristics of a familial hypercholesterolemia(FH) proband diagnosed clinically through DNA sequencing and family analysis in the proband and his family members of 3 generations.Methods Blood samples and clinical data of the kindred of total 29 from 3 generations members were collected.Proband had a physical examination electrocar-diogrom and vascular ultrasound.The proband and his family members took routine clinical exams,and genomic DNA was isolated.The promoter region and the 18 exons of low density liporotein receptor(LDLR) gene were screened by Touch down polymerase chain reaction -single strand conformation polymorphism(PCR-SSCP) and DNA sequencing.The result of sequencing were matched gene sequence published in the BLAST database.Results 1.Increased intima-media thickness and plaque were detected in the common carotid artery,right subclavian artery of the proband.Aortic valve regurgitation was found by echocardiography.2.No mutation R3500Q of ApoB100 was observed.3.Two heterozygous mutations in exon 10 and 13 of LDLR gene (W462X and A606T) were identified.The proband and 5 members of paternal relatives showed W462X heterozygosis mutation in exon 10 of LDLR gene which introduced the change from tryptophone to a new stop codon.The proband's mother and grandmother harboured A606T heterozygous mutation in exon 13 of LDLR gene due to a single base pair substitution of G for A in the codon for residue 1 879.Conclusions Disease causing mutations of proband are W462X and A606T compound heterozygosis mutation in exon 10 and 13 of LDLR gene inherited from mother and father.Proband shows homozyous phenotype though the genotype analysis indicates heterozygous mutations.

Chronic Periodontitis ; complications ; diagnosis ; diagnostic imaging ; therapy ; Dental Pulp Diseases ; complications ; diagnosis ; diagnostic imaging ; therapy ; Dental Scaling ; Female ; Humans ; Periodontal Debridement ; Periodontal Diseases ; complications ; diagnosis ; diagnostic imaging ; therapy ; Radiography ; Root Canal Therapy ; Root Planing ; Young Adult

Candida shehatae xyl1 gene and Pichia stipitis xyl2 gene were amplified by PCR and the xyl1 and xyl2 were both placed under the promoter GAL of vector pYES2 to produce the recombinant expression vector pYES2-P12. Subsequently the pYES2-P12 vector was transformed into S. cerevisiae YS58 by LiAc to produce the recombinant yeast YSS8-12. It was indicate that the recombinant yeast YSS8-12 could converse xylose to ethanol with the xylose consumption rate of 81. 3%.

There are abundant of lignocelluloses in agricultural wastes. And it can provide a variety of sugars involve pentose and hexose through pretreatments or hydrolyzation of these lignocelluloses. This review summarized the current status of bioethanol production by bacteria, and compared the productivity of some kinds of ethanologenic bacteria such as recombinant Zymomonas mobilis and Escherichia coli.

Objective To study on the metal clip installation to avoid post-operative bleeding in pa- tients accepted papilla sphinctecotomy.Methods One hundred and eighty five patients who accepted ERCP +EST were divided into two groups:Group 1 was given routine regimen alone(N=95),group 2,given routine regimen and metal clip to prevent post-operative bleeding.Results The postoperative bleeding hap- pened in 3(3.2%)cases of Group 1 and none in Group 2,there is significant difference between these two groups(P＜0.05).The breeding cases in group 1 were controlled by metal clip under endoscopy successful- ly.Conclusion Preventive usage of metal clip was significantly decreased the incidence of post-operative bleeding in EST patients.

Animals ; Apoptosis ; Diabetic Nephropathies ; metabolism ; pathology ; Glucose ; metabolism ; Membrane Potential, Mitochondrial ; Mice ; Mice, Transgenic ; Mitochondria ; pathology ; Podocytes ; cytology

OBJECTIVETo investigate the distribution of rag genotypes of Porphyromonas gingivalis (P. gingivalis) in chronic periodontitis patients.

METHODSSubgingival plaque samples were collected from 50 chronic periodontitis patients. The occurrence of P. gingivalis was determined by polymerase chain reaction (PCR) using 16S rDNA-specific primers. Distribution of rag genotypes was assessed in P. gingivalis positive samples by PCR.

RESULTSThe occurrence of P. gingivalis was 70.7%, and the distribution of four rag genotypes among P. gingivalis positive samples was as follows: rag-1 60.4%; rag-2 23.6%; rag-3 44.3%; rag-4 15.1%, respectively.

CONCLUSIONP.gingivalis with various rag genotypes was present in subgingival plaque samples from chronic periodontitis patients, and P. gingivalis with rag-1 and rag-3 were more predominant in chronic periodontitis patients, which may be associated with the development of periodontitis.

Adult ; Chronic Periodontitis ; DNA-Binding Proteins ; Dental Plaque ; Female ; Genotype ; Humans ; Male ; Periodontitis ; Polymerase Chain Reaction ; Porphyromonas gingivalis

OBJECTIVETo evaluate the effect of non-surgical treatment with Florida probe.

METHODS100 patients with periodontitis were chosen in the study, who accepted periodontal non-surgical treatment. Pocket depth (PD) and attachment loss (AL) of all patients were recorded with Florida probe before and at the first month after periodontal non-surgical treatment. The detecting sites were mesialbuccal, buccal, distalbuccal and lingual. All teeth were divided into four groups: Anterior teeth group, premolar group, molar group and all teeth group. The therapeutic efficacy of PD and AL of groups, sites and different pocket depths was compared.

RESULTSIn all four groups, PD, AL before and after one month periodontal non-surgical treatment demonstrated significant differences (P < 0.05). It was found that the short-term effect of periodontal non-surgical treatment resulted in significant resolution of gingival inflammation and pronounced reduction in pocket depth and gain of attachment loss in all patients. Anterior teeth had better therapeutic efficacy than premolar and molar. The PD pronounced reduction and gained a significant difference between PD < 5 mm and PD > or = 5 mm (P < 0.05), but not with AL (P > 0.05). Sites had no significant difference (P > 0.05).

CONCLUSIONFlorida probe evaluates periodontal conditions accurately and objectively. Periodontal non-surgical treatment allowed for favourable treatment response on periodontitis, anterior teeth had a good therapeutic efficacy, different sites had the equal therapeutic efficacy.

Adult ; Female ; Humans ; Male ; Middle Aged ; Periodontal Index ; Periodontitis

Nogo is widely expressed in higher vertebrate animals. Nogo gene gives rise to multiple isoforms. All the subtypes of Nogo proteins are characterized by a 200-amino-acid C-terminal domain, including two long hydrophobic sequences. Biological functions of Nogo include inhibition of neurite growth from the cell surface via specific receptors, intracellular trafficking, cell division and apoptosis. Here, we briefly review the elementary structure, taxonomic distribution and tissue expression of Nogo, summarize recent discoveries about localization of Nogo and mechanism of action, and discuss the possible functions of Nogo.

OBJECTIVETo analyse the genetic polymorphism of Arg-gingipainB (rgpB), a virulent factors of Porphyromonas gingivalis (P.gingivalis) and discuss the role of the different genotypes in the genesis and progress of chronic periodontitis.

METHODSA total of 104 subgingival plaque samples were included in this study. The extracted DNA was amplified with the primers designed to obtain the gene encoding the catalytic domain of rgpB (rgpB-cd), P.gingivalis was typed into four genotypes by restriction fragment length polymorphism (RFLP).

RESULTSIn lesion site, the detection rate of type IV was the highest (52.78%), which was higher than those of type I and III (P < 0.05 or P < 0.01). While in non-lesion site, The detection rate of type II was the highest (75.86%), which was higher than those of other types (P < 0.01).

CONCLUSIONSThe polymorphism of rgpB-cd gene may influence the virulence of P.gingivalis. P.gingivalis type IV may be well related to periodontitis, while type II may be a indigenous flora.

Adhesins, Bacterial ; genetics ; Adult ; Aged ; Chronic Periodontitis ; microbiology ; Cysteine Endopeptidases ; genetics ; Dental Plaque ; microbiology ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Porphyromonas gingivalis ; genetics ; pathogenicity