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.

OBJECTIVETo evaluate the morphological characteristics of alveolar bone defects of the patients with chronic periodontitis using cone-beam CT (CBCT).

METHODSSixty patients with chronic periodontitis were included in this study. CBCT was used to scan the alveolar bone and NNT software to measure the alveolar bone defects and bone loss types in different regions.

RESULTSSeventy-five percent (45/60) of the alveolar bone defect was the generalized type, 25% (15/60) was the localized type. In incisor and canine area, the defect of the mandibular alveolar bone was more severe than in the same sites of maxilla. There was less bone loss in the premolar area of mandible than in the same site of maxilla. In the mesial and buccal sites of mandibular molars and in the lingual site of maxillary molars, the most severe alveolar bone loss was found.

CONCLUSIONSThe obvious alveolar bone defect areas in chronic periodontitis were the palatal side of maxillary molars and the lingual side of mandibular incisors. CBCT can clearly demonstrate the degree of alveolar bone defects in different regions of chronic periodontitis.

Adult ; Alveolar Bone Loss ; diagnostic imaging ; Chronic Periodontitis ; diagnostic imaging ; Cone-Beam Computed Tomography ; Female ; Humans ; Male ; Middle Aged

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

OBJECTIVETo detect the susceptible alleles in generalized aggressive periodontitis patients and healthy controls and to analyze the effect of multi-alleles on the occurrence and development of generalized aggressive periodontitis.

METHODSPolymerase chain reaction and cleavage were used for detecting the frequencies of five susceptible genetic polymorphisms in generalized aggressive periodontitis patients and healthy controls. The results were analyzed by Z-score test and mean square analysis.

RESULTSThe frequencies of homozygous for HLA-DRB1* 1501 allele, TNF-A-308 allele II, IL-1B(+3953) allele II, vitamin D receptor allele A, T, estrogen receptor allele X in generalized aggressive periodontitis patients were higher than those in healthy controls. The persons who took more than three susceptible alleles (including three susceptible alleles) had more severe periodontal conditions than the ones who took less than three susceptible alleles (not including three susceptible alleles).

CONCLUSIONSHLA-DRB1 * 1501 allele, TNFA-308 allele II, IL-1B(+3953) allele II, vitamin D receptor allele A, T, estrogen receptor allele X are susceptible alleles in generalized aggressive periodontitis. Carrying more than three susceptible alleles has a great effect on the occurrence and development of generalized aggressive periodontitis.

Adolescent ; Adult ; Aggressive Periodontitis ; genetics ; Alleles ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Interleukin-1beta ; genetics ; Male ; Receptors, Calcitriol ; genetics ; Receptors, Estrogen ; genetics ; Tumor Necrosis Factor-alpha ; genetics ; Young Adult

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.

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.

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 study the prevalence of Tannerella forsythensis (T. forsythensis) in the subgingival plaque of type 2 diabetes, analyze the relationship between Tforsythensis and related factors, discuss the role of T. forsythensis in the chronic periodontitis and type 2 diabetes.

METHODS160 subgingival plaque samples were collected from type 2 diabetic patients and pathogens genomic DNA were extracted by phenol and chloroform from plaque. T. forsythensis was detected by polymerase chain reaction, and Pearson correlation and Logistic regression analysis were used to analyze the relationship between T. forsythensis and systemic factors and periodontal status.

RESULTSThe prevalence of T. forsythensis in mild, moderate, severe periodontitis group was 47.82%, 48.71%, 67.39% respectively, and the prevalence was higher in the severe periodontitis group than in mild, moderate group (P < 0.05). There was no T. forsythensis in 6 diabetic patients with healthy periodontium. Logistic regression analysis illustrated that the prevalence of T. forsythensis was associated with simplified oral hygiene index (OHI-S) and diabetic duration (OR = 1.947, OR = 0.873).

CONCLUSIONThe prevalence of T. forsythensis in type 2 diabetes with chronic periodontitis was related with oral hygiene, periodontal status and diabetic duration.

Aged ; Bacteroides ; Chronic Periodontitis ; Dental Plaque ; Diabetes Mellitus, Type 2 ; Humans ; Periodontitis ; Polymerase Chain Reaction ; Porphyromonas gingivalis ; Prevalence

OBJECTIVETo assess the prevalence of specific kgp genotypes in puberty gingivitis and investigate their possible association with disease severity.

METHODSSubgingival plaque samples were collected from 72 pubertal children aged from 14 to 17 years, which were divided into two groups, gingivitis group and healthy (control) group. Clinical parameters were recorded beforehand. PCR technique was used to amplify the region encoding the catalytic domain of gingipain K (KGP). The PCR products were digested with restriction enzymes Mse I.

RESULTSThe kgp-A genotype was digested in fragments of 102 bp, 288 bp and 402 bp, and kgp-B genotype was unrestricted with 792 bp. Virulent strain P. gingivalis W83 was manifested by kgp-A genotype while a virulent strain P. gingivalis ATCC 33277 was manifested by kgp-B genotype. All P. gingivalis positive subjects were subgingivally colonized by only one kgp genotype. The prevalence of kgp-A genotype in puberty gingivitis group and gingival healthy group was 79.0% and 22.2% respectively. The distribution differences of genotypes between the two groups were statistically different (P = 0.028). There was no statistically significant difference in the clinical parameters between pubertal subjects harboring P. gingivalis of kgp-A genotype and kgp-B genotype (P > 0.05).

CONCLUSIONSMost subjects with puberty gingivitis were harbored by the same kgp genotype as that of virulent strain P. gingivalis W83. It may be necessary to continue to monitor individuals who are positive for P. gingivalis of kgp-A genotype since their risk of developing periodontal diseases may be increased in the future.

Adolescent ; Case-Control Studies ; Dental Plaque ; microbiology ; Female ; Genotype ; Gingivitis ; microbiology ; Humans ; Male ; Polymerase Chain Reaction ; Porphyromonas gingivalis ; genetics