Congenital malformation of external and middle ear is a common disease in ENT department, and the incidence of this disease is second only to cleft lip and palate in the whole congenital malformations of the head and face. The external and middle ear malformations may occur separately, or as an important ear symptom of the systemic syndrome. We systematically review and analysis the genetic research progress of congenital malformation of external and middle ear, which would be helpful to understand the mechanism of external and middle ear development, and to provide clues for the further discovery of new virulence genes.
Chromosome Aberrations ; Ear, External ; abnormalities ; Ear, Middle ; abnormalities ; Genes ; Humans

As originated from hematopoietic stem cell clonal diseases,bcr-abl-negative chronic myeloproliferative neoplasms (MPN) include polycythemia vera (PV),essential thrombocythemia (ET) and primary myelofibrosis (PMF).With the discovery of JAK2 mutations,many new mutations have been identified.With the in-depth study of gene mutation,the pathogenesis of MPN has been gradually uncovered.Novel drugs have been developed accordingly.

Castration-resistant prostate cancer (CRPC) is the lethal form of prostate cancer with developed resistance to androgen deprivation therapy. However, anti-androgen therapy remains an important treatment option because androgen receptor activation is a major driver of the advanced phase of CRPC. Drug resistance is frequently manifested despite the development of various novel anti-an-drogens with significant clinical efficacy. This review introduces several drugs prevalently used to treat CRPC. The mechanisms of ac-tion and pathways to resistance of these drugs are also discussed.

Objective To perform mutation screening on the OTOF gene of 76 Chinese patients with sporadic auditory neuropathy for investigating whether the patients contained mutational hotspots in the OTOF gene,identifying the distribution and frequencies of OTOF mutations,and detecting new mutation points in the OTOF gene.Methods Genemic DNA samples were extracted from peripheral venous blood samples of the patients.9 primer pairs were designed using the Primer 5.0 software package for 9 exons of the OTOF gene,in which mutations had been discovered in the past.The exons were amplified using polymerase chain reaction(PCR),and direct sequencing of the PCR products was performed to detect OTOF mutations.For analysing the sequence data,the DNAStar 5.0 software package was used.Results 8 types of OTOF polymorphic alleles were discovered in this study.Among them,the 82 769delAG deletion mutation was only found in a patient diagnosed with temperature sensitive auditory neuropathy.In exon 25 of this patient's OTOF gene,the AG deletion mutation caused the replacement of amino acid at positions 993~999 and resulted in a truncated protein at position 1 000 amino acid(exon 26),which caused an early stop codon.(This protein has 1997 amino acids in all).Nevertheless,no other mutations were found in this patient's OTOF gene.The heterozygous 76 378C/T and 82 913G/A polymorphisms were single nucleotide polymorphisms(SNP) discovered in this study.Other SNP found were 56 842A/C,82 885C/A,and 92 905G/A,which had been already published by NCBI.In addition,92 995C/T and 96 888C/T were heterozygous mutations found in the exons,but did not cause the replacement of acid amino.Conclusion Eight SNPs were found in the OTOF gene of the Chinese patients in this study.However,mutations,which were previously identified in other ethnic origins in the literature,were not found in these patients.Thus,the result implied that the Chinese patients with auditory neuropathy may contain new OTOF mutations or other relevant disease-causing genes.

BACKGROUND:Runx2 is considered to the main regulatory factor of osteogenic gene expression and be necessary for osteoblast differentiation, it plays an extremely important role in the osteoblast development, differentiation, regulation, bone calcification formation and bone repair.
OBJECTIVE:To observe the biological properties of mesenchymal stem cells from human exfoliated deciduous teeth, explore the osteogenic differentiation potential of deciduous teeth stem cells, and observe the dynamic expression of Runx2 gene at varying time points.
METHODS:The stem cells from human exfoliated deciduous teeth were isolated and cultured in vitro. The cellsurface antigen was detected with flow cytometry. The third passage cells were cultured in the adipogenic medium for 4 weeks, and oil red O staining was conducted to test lipid droplets formation. The third passage cells were cultured in the osteogenic medium for 21 days, and mineralized nodules were detected by alizarin red staining. Runx2 mRNA dynamic expression was detected with semi-quantitative RT-PCR at different time points.
RESULTS AND CONCLUSION:The stem cells from human exfoliated deciduous teeth were obtained by enzyme digestion and limited dilution methods. Flow cytometry results showed that, CD146 and STRO-1 were expressed to varying degrees. Oil red O staining revealed salmon pink positive particles. Alizarin red staining showed positive expression. RT-PCR results showed that, Runx2 expression was found at day 0, up-regulated from day 0 to day 6, and subsequently dropped with an expression bottom at day 12, after that a second expression peak occurred at day 18, fol owed by a stably regulation. The stem cells from human exfoliated deciduous teeth can be isolated and cultured in vitro, express surface antigen of mesenchymal stem cells, and have the potentials of differentiating into adipocytes and ostetoblasts. Runx2 gene profiles are dynamical y expressed during osteoblastic differentiation. Runx2 express throughout every stage of osteoblastic differentiation. The expression is up-regulated during early and later stages, and down-regulated in metaphase.

Purpose To eva1uate the effects of Annexin A3 on pro1iferation and apoptosis of gastric cancer ce11s. Methods The re-combinant p1asmid pYr-ads-4-Annexin A3 was constructed and ana1yzed by restriction ana1ysis and sequencing and was transfected into MGC803 ce11s. The stab1e transfectants were obtained after screening with G418. Western b1ot ana1ysis was used to examine the expres-sion of Annexin A3 before and after transfection. CCK8 assay,c1one assay and f1ow cytometry were used to study the effects of Annexin A3 on pro1iferation and apoptosis of MGC803 ce11s. Results The recombinant p1asmid pYr-ads-4-Annexin A3 was successfu11y con-structed. Western b1otting resu1ts indicated that the Annexin A3 expression was significant1y higher in ce11s transfected with pYr-ads-4-Annexin A3 compared with ce11s transfected with empty vectors and un-transfected ce11s( P<0. 05 ). CCK8 assay resu1ts showed the number of ce11s transfected with pYr-ads-4-Annexin A3 was significant1y higher than those transfected with empty vectors and un-trans-fected ce11s(P<0. 05). Moreover,the number of c1one in ce11s transfected with pYr-ads-4-Annexin A3 was significant1y higher than the other two groups(P<0. 05). Important1y,high Annexin A3 expression inhibited to apoptosis of MGC803 ce11s(P<0. 05). Con-clusion Annexin A3 expression p1ay important ro1es in tumorigenesis of gastric cancer. Annexin A3 cou1d promote the pro1iferation and inhibited apoptosis of gastric cancer ce11s and it might be a potentia1 target for gastric cancer treatment.

Previous teaching of"Four Classic Subject" of TCM was a passive process for students to learn. Problem based learning (PBL), being an original teaching mode, could provoke activeness and conduce to group spirit of students.However, at present, there were problems such as inadequate teaching ability of teachers, not enough supply of teachers, short of corresponding teaching materials, and lack of independence and group spirit of students, which needed to be solved badly.

Objective To investigate the effects of ubiquitin isopeptidase inhibitor Ⅰ on proliferation and apoptosis of human leukemic K562 cells.Methods Human leukemic K562 cells were treated with different concentration of ubiquitin isopeptidase inhibitor Ⅰ.Cell proliferation was monitored by MTT assay.Cell apoptosis was analyzed by flow cytometry after Annexin V/PI staining,and mRNA expression levels of bcl-2,bax and Caspase-3 were quantified by reverse transcription-polymerase chain reaction (RT-PCR).Results MTT assay showed that the proliferation of K562 cells was markedly inhibited by ubiquitin isopeptidase inhibitor Ⅰ in a time-and-dose dependent manner.The Annexin V positive rate of K562 cells after treatment with ubiquitin isopeptidase inhibitor Ⅰ was significantly increased by FCM analysis (P ＜ 0.05).The early apoptosis rate of K562 cells treated with 100 nmol/L ubiquitin isopeptidas inhibitor Ⅰ by 72 h,was obviously increased compared to control cells [(15.4±1.3) ％ vs (4.1±0.9) ％,P ＜ 0.01].The mRNA levels of Caspase-3 and bax were up-regulated and bcl-2 was down-regulated after treated with ubiquitin isopeptidase inhibitor Ⅰ,and the differences were statistically significant from control cells (P ＜ 0.05).Conclusion Ubiquitin isopeptidase inhibitor Ⅰ has inhibitory effect on proliferation and inductive effect on apoptosis of K562 leukemia cells,implying its possible application in treating leukemia.

Objective To observe the effects of comprehensive psychological interventions in the treatment of abnormal blinking in children.Methods One hundred and sixty-three children diagnosed with abnormal blinking were randomly assigned into a basic treatment group or a comprehensive psychological intervention (CPI) group.Both groups received etiology-based therapy,while the CPI group received CPI in addition.After follow-up for six months,the therapeutic effectiveness and recurrence were evaluated.Results Abnormal blinking was significantly reduced in both groups after treatment,but the CPI group showed significantly better effectiveness than the group which received only basic treatment.Furthermore,the CPI group showed significantly less recurrence at 3-and 6-month follow-up.Conclusion CPI is more effective than basic treatment in treating abnormal blinking among children and results in less recurrence.

Abdominal fullness in Taiyin disease,marked by being aggravated after vomiting,is mainly caused by internal exuberance of cold dampness,which indicates that the pathogenic cold dampness is accumulated in not only the interior of intestines,but also the exterior of intestine in the abdominal cavity.According to the description about hardness beneath chest in outline syndrome of Taiyin disease,Taiyin disease may be considered as such diseases as cirrhosis,congestive splenomegaly due to portal hypertension.Sini decoction should be used to treat abdominal fullness in taiyin disease with the function of warming and eliminating cold dampness,which shows the decoction has the function of recovery of cirrhosis of the liver decompensation.