Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited disease associated with germ-line mutations in mismatch repair genes and microsatellite instability. This article reviews the molecular biology and clinical pathology of HNPCC.
Colorectal Neoplasms, Hereditary Nonpolyposis ; diagnosis ; genetics ; pathology ; DNA Mismatch Repair ; Humans ; Microsatellite Instability

We analyzed the pathogenic characteristics of Salmonella strains isolated from diarrhea patients in Wuxi City,Jiangsu Province,China and compared the differences among pulse field gel electrophoresis (PFGE) patterns of main serotype strains,so as to provid scientific basis for disease control.After biochemical identification of the Salmonella strains isolated from infectious diarrhea patients in Wuxi in 2015,drug susceptibility test,serotyping and PFGE were applied to analyze these strains.Results showed that a total of 32 Salmonella strains were detected from 756 diarrhea specimens with a positive rate of 4.23 ％.The infection occurred more frequently between May and October and adults aged more than 60 years old affected mostly.There was no significant difference between genders in infected population.The drug susceptibility test indicated that the antibiotic resistance rate of these Salmonella strains to ampicillin (56.25 ％) was the highest,and to ciprofloxacin(6.25 ％)and Ceftazidime (6.25％) were the lowest.The 32 Salmonella strains belonged to 11 serotypes,and S.enteritidis(31.25％)and S.typhimurium(21.88％) were the predominant serotypes.PFGE showed that the pattern similarity of all S.enteritidis was more than 85 ％;PFGE patterns of S.typhimurium were different.In conclusion,the infection of Salmonella from diarrhea patients in Wuxi City had obvious season and age specific distribution,and the most prevalent serotype of Salmonella was the S.enteritidis.It is necessary to strengthen the surveillance of Salmonella concurrently in food and environment.

Objective To explore the treatment effect of potato homogenate on the treatment of drug extravasation during intravenous injection.Methods 320 cases of drug extravasation patients during the intravenous infusion were randomly divided into the potato homogenategroup,named group A; patato slice group named group B and magnesium sulfate group as group C.The group A,B and C were separately treated with the external application of potato homogenate,thin slice of fresh potato and 33％ magnesium sulfate.The therapeutic effects of the 3 groups were compared.Results The therapeutic effect of group A was superior to that of group B and C,and the healing time in group A was much shorter than that in group B and C,and group B was batter than group C,there was significant difference between the above comparison groups.Conclusions The therapeutic effect of external application of fresh potato in the treatment of extravasation injury caused by the drugs is remarkable.Potato homogenate can improve the treatment effect and shorten healing time when compared with potato slice.

OBJECTIVE: To construct a kind of recombinant plasmid PGCsi-AQP1 delivery with DOPC and explore the inhibit effect of laryngeal carcinoma by RNAi targeting AQP1 in vivo. METHOD: Male BALB/c mice, 6 weeks of age transplanted with laryngeal carcinoma cell line Hep-2, four groups were divided randomly: Tail vein injection group (TVIG), Carcinoma around injection group (CAIG), negative control group (NCG) and blank control group (BCG). The recombinant plasmid PGCsi-AQP1 delivery with DOPC were inject into tail vein or surrounding tumor. HE pathological slides and tumor size were observed and inhibitory rate was figured up. The level of AQP1 protein expression and high microvessel density were detected by Immunohistochemical staining (IHC). RESULT: We constructed BALB/c mice models of laryngeal carcinoma successfully (1) HE staining: cell putrescence, nuclear pyknosis and apoptotic bodies were more in the tumor tissues of experimental groups than two control groups. (2) The total volumes of tumor in experimental group were both smaller than in two control groups (P < 0.01). The inhibition rate of TVIG and CAIG were 52.4% and 53.5% respectively and there was no significant difference (P > 0.05). (3) IHC: the AQP1 positive cells and microvessel density in TVIG and CAIG were both less than in two control groups (P < 0.01). CONCLUSION Neutral lipsomes DOPC could help carriaging the recombinant plasmid PGCsi-AQP1 to tumor and then play an inhibit role in laryngeal carcinoma tissue by RNAi targeting AQP1 in vivo.
Animals ; Aquaporin 1 ; therapeutic use ; Cell Line, Tumor ; Laryngeal Neoplasms ; therapy ; Liposomes ; Male ; Mice ; Mice, Inbred BALB C ; Neoplasm Transplantation ; Plasmids ; RNA Interference ; RNA, Small Interfering ; Random Allocation ; Transfection

BACKGROUND:The enamel matrix derivative has been used in the clinical treatment of severe periodontitis; however, the mechanism(s) by which enamel matrix derivative promotes periodontal regeneration is stil obscure. OBJECTIVE:To explore the effects of enamel matrix derivatives on the differentiation and proliferation of periodontal ligament stem cels. METHODS:Periodontal ligament stem cels were isolated and identified from human teeth. Cloning forming efficiency, surface antigen expression and pluripotency were detected and identified. Enamel matrix derivatives with different concentrations (20, 50, 100 mg/L) were used to culture periodontal ligament stem cels for 2 and 4 weeks. Colagen synthesis and mineralized nodule formation were detected using Trichrom staining and Von Kosa’s staining, respectively; real-time RT-PCR was employed to detect expressions of colagen type I, osteocalcin, and RUX2; MTT and cel growth rate assay were used to detect the proliferation of periodontal ligament stem cels. RESULTS AND CONCLUSION:Periodontal ligament stem cels were spindle-shaped and showed a higher colony forming efficiency than periodontal ligament cels. The expressions of surface antigens of periodontal ligament stem cels-CD105, CD29, CD45, CD44 were respectively 99.8%, 99.7%, 1.26%, 98.8%, indicating periodontal ligament stem cels have the multilineage differentiation potential. Enamel matrix derivatives improve the colagen synthesis and mineralization nodule formation of periodontal ligament stem cels in a time-dose dependent manner. They also can improve the expression of osteogensis-related genes colagen type I, osteocalcin, RUX2 and proliferation of periodontal ligament stem cels.

Objective To compare the impact of the sirolimus and tacrolimus on the tumor recurrence after liver transplantation due to HCC beyond Milan criteria.Method Sixty-one liver transplantation recipients due to HCC beyond Milan criteria,between Jan.2008 and Apri.2012,were randomized,with the informed consent,into two different immunosuppression groups: sirolimus group (n=30) and tacrolimus group (n=31).In tacrolimus group,tacrolimus was used as the basic immunosuppressant,methylprednisolone was discontinued within one month postoperatively,and mycophenolate mofetil was used within the dosage of 1.5 g/d accordingly.In sirolimus group,the immunosuppresive scheme was the same as that of the tacrolimus group within postoperative one month,and from that,tacrolimus was transferred to sirolimus.No antineoplastic agents were given before tumor recurrence.The tumor recurrence rate and the survival rate of the recipients were compared between the two groups.Result The median follow-up duration was 35.2 months (10.3～ 60.2).The tumor recurrence rate at postoperative year 1,2,3 and 4 in the sirolimus group (13.3％,36.7％,43.3％ and 53.3％) was significantly lower than that in the tacrolimus group (38.7％,67.7％,74.2％ and 77.4％),P ＜ 0.05 for all.The one-year survival rate in the recipients postoperation had no significant difference between sirolimus group and tacrolimus group (90.0％ vs.87.1％,P=0.438).The 2-,3-and 4-year survival rate in the recipients was significantly higher in the sirolimus group (53.3％,33.3％ and 20.0％) than that in the tacrolimus group (41.9％,22.6％ and 9.7％),P ＜ 0.05 for all.The liver function and renal function of the recipients at the postoperative year 1,2,3 and 4 showed no significant difference between the two groups,P＞0.05.Conclusion In comparison with tacrolimus,sirolimus could significantly reduce the tumor recurrence rate and increase the survival rate for the liver transplant recipients due to HCC beyond Milan criteria.

By applying the methods of inter—element meter andmean line,decoction solution of 110 recipes were anal-ysed for the characteristics of distribution of inorganicelements.In those recipes containing more warm-heat drugs,the contents of most elements were higherthan the line of average value,while those with morecool—cold drugs,lower than the mean line,suggest-ing that the distribution value of inorganic elementsmay be a determining factor responsible for the cold-heat quality of a recipe.

OBJECTIVETo evaluate the effect of mitochondrial DNA(mtDNA) secondary mutations, haplotypes, GJB2 gene mutations on phenotype of 1494C>T mutation, and to study the molecular pathogenic mechanism of maternally transmitted aminoglycoside-induced and nonsyndromic hearing loss.

METHODSTwo Chinese Han pedigrees of maternally transmitted aminoglycoside induced and nonsyndromic hearing loss were collected. The two probands and their family members underwent clinical, genetic and molecular evaluations including audiological examinations and mutational analysis of mitochondrial genome and GJB2 gene.

RESULTSClinical evaluation revealed wide range of severity, age-at-onset and audiometric configuration of hearing impairment in matrilineal relatives in both families, for which the penetrance of hearing loss was respectively 42.9% and 28.6% when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss were 14.3% and 14.3%. Sequence analysis of mitochondrial genomes identified a known 12S rRNA 1494C>T mutation, in addition with distinct sets of mtDNA polymorphisms belonging to Eastern Asian haplogroups C4a1a and B4b1c, respectively.

CONCLUSIONMitochondrial 12S rRNA 1494C>T mutation probably underlie the deafness in both families. Lack of significant mutation in the GJB2 gene ruled out involvement of GJB2 in the phenotypic expression. However, aminoglycosides and other nuclear modifier genes may still modify the phenotype of the 1494C>T mutation in these families. The B4b1c is a newly identified haplogroup in aminoglycoside-induced and nonsyndromic hearing loss family carrying the 1494C>T mutation. The 1494C>T mutation seems to have occurred sporadically through evolution.

Adult ; Aminoglycosides ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Connexin 26 ; Connexins ; genetics ; DNA, Mitochondrial ; genetics ; Genetic Predisposition to Disease ; Haplotypes ; Hearing Loss ; chemically induced ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; RNA, Ribosomal ; genetics ; Young Adult

OBJECTIVETo study the effect of the mitochondrial 12S rRNA mutations on aminoglycoside-induced and nonsyndromic hearing loss, to carry out the clinical and molecular characterization of five Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic hearing loss.

METHODSFive pedigrees of maternally transmitted aminoglycoside-induced and nonsyndromic hearing loss were collected, genomic DNA was extracted, and complete mitochondrial genomes and the gap junction protein beta 2 (GJB2) gene were amplified and sequenced.

RESULTSClinical evaluation revealed a wide range of severity, age-at-onset and audiometric configuration of hearing impairment in the matrilineal relatives in these families. The penetrance rates of hearing loss in these pedigrees were 17.6%, 50.0%, 66.7%, 31.3% and 23.1%, with an average of 37.7%, when aminoglycoside-induced deafness was included. Sequence analysis of the complete mitochondrial genomes in these pedigrees identified the known 1555A>G mutation and distinct sets of mitochondrial DNA(mtDNA) polymorphisms belonging to Eastern Asian haplogroups D4b2b, B4c1b1, F3, C1 and D5a, respectively. Of these variants, ND1 L89T and CO3 A200T mutations resided at the highly conservative regions. However, there were no functionally significant mutations in tRNAs and rRNAs or secondary known mutations. No hearing loss related GJB2 gene mutation was observed.

CONCLUSIONThe lack of significant mutation in the ruled out the possible involvement of GJB2 in the phenotypic expression of the 1555A>G mutation in those affected subjects. However, aminoglycosides, mtDNA variations and other nuclear modifier genes may play an important role in the phenotypic manifestation of the 1555A>G mutation in these Chinese families.

Adult ; Amino Acid Sequence ; Aminoglycosides ; adverse effects ; Animals ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; ethnology ; Connexin 26 ; Connexins ; chemistry ; genetics ; DNA Mutational Analysis ; Ethnic Groups ; genetics ; Female ; Hearing Loss, Sensorineural ; chemically induced ; genetics ; Humans ; Inheritance Patterns ; genetics ; Male ; Molecular Sequence Data ; Mothers ; Pedigree ; Young Adult

Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.
Cerebellar Ataxia ; classification ; genetics ; metabolism ; Genes, Recessive ; Humans