Objective To investigate the agitation effect of dexmedetomidine in the operation of radical hysterectomy by general anesthesia in patients.Methods 68 cases in this study who were under the operation of radical hysterectomy by general anesthesia in our hospital were selected, and randomly divided into the group A and the group B, 34 cases in each group.Group A received dexmedetomidine after tracheal intubation, and group B received physiological saline as the measurement of group A, hemodynamic and inflammatory factors were measured at different time points in anesthesia, the corresponding indexes and the degree of emergence delirium were compared.Results Compared with T1 , levels of HR and MAP increased, levels of SpO2 decreased at T3 and T4 in group B, levels of CRP, TNF-αincreased at T2 , T3 , T4 , T5 in group B, levels of CRP, TNF-αincreased at T3 , T4 , T5 in group A(P<0.05), and compared with the group A, levels of HR and MAP were higher at T3 and T4, levels of SpO2 were lower,levels of CRP, TNF-αwere higher at T2, T3, T4, T5in group B(P<0.05).The cough response score and agitation score in group B were higher than group A, and sedation score was lower than group A ( P <0.05 ) , the grade of emergence delirium in group A was better than group B ( P <0.05 ) . Conclusion Dexmedetomidine in the operation of radical hysterectomy by general anesthesia could reduce the emergence of agitation occurred, inhibit extubation reaction, but would not extend the anesthesia recovery time.

OBJECTIVETo detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism.

METHODSAll exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing.

RESULTSFor the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation.

CONCLUSIONThe coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.

Adult ; Albinism, Oculocutaneous ; enzymology ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Exons ; Female ; Frameshift Mutation ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Molecular Sequence Data ; Mutation, Missense ; Oxidoreductases ; genetics ; Pedigree