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.

In order to provide insights into sampling in suspected cases of morphine poisoning,the present study was conducted to investigate the distribution patterns of morphine in organs in rats with acute morphine poisoning at different post mortem intervals.Localization and semi quantitation of morphine in the brain,kidney,heart and liver were determined in rats at 15min to 5h after intravenous administration of morphine and at different intervals from 0 to 48h after death using the immunohistochemical SP method and image analysis.The results showed that the morphine could be detected in cytoplasms of certain parenchymal cells in all organs examined short time after delivery of morphine.With the extension of post delivery intervals,the level of morphine inereased,peaked,followed by decrease thereafter.The amount and the distribution patterns of morphine varied greatly with different organs.In the brain,the morphine could be detected earlier than in the heart,kidney and liver.It could detected 15min after the drug administration,with a peak,and disppeared at 5h after drug delivery.It decayed slowly as compared with the heart and lung.The kidney was the second organ in which the morphine was detected early with a high level and decayed slowly.In conclusion,immunohistochemical SP method can be used as a specific technique to detect morphine in organs in suspected cases of morphine poisoning.Both brain and kidney were the candidates for sampling in such case.

Objective To compare the effects between Milrinone and Lrh-BNP for treating the peripartum cardiomyopathy heart failure.Methods After treated by routine measure,39 serious PPCM patients were randomized into two groups,with 20 to Milrinone group for the advanced therapy between 5 to 7 days,and 19 to Lrh-BNP group therapy 24 hours. Results The total efficient rate in Lrh-BNP group(95%) was more higher than that in Milrinone group(73.6%).The index of heart function such as LVEF,FS,E/A,SV,CO,CI,24 hours urine quantity,dyspnea could improve in both groups after the therapy(P

1.5,2.0,and 2.5 mm/day)was performed on 20 goats and 20 rabbits.It was found that a relatively slow lengthening rate of 1mm/day was better since it induced less tissue reactions and quicker bony regeneration and created more dense and more mature bony trabeculae in the lengthened zone than the other 3 rates.In addition,it was also found the new bone formation in the lengthened zone of the proximal metaphysis of the tibia proceeded quickly and both intramem-branous and endochondral ossifications contributed to the bone healing process with the former in predominance.

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.

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.

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.