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Objective To analyze the mutation distribution of phenylalanine hydroxylase(PAH)gene in pa-tients with phenylketonuria(PKU)in Ningxia,and understand the hot spots and regions of PAH gene. Methods First-ly,6 hot mutation exons including 3,5,6,7,11,12 and their surrounding introns of the PAH gene in 30 patients with PKU in Ningxia were directly sequenced. And then the last 7 exons of 1,2,4,8,9,10,13 were sequenced for the patients in which 2 mutant alleles were not characterized. Multiplex ligation - dependent probe amplification (MLPA)was performed for the identification of uncharacterized mutant alleles after PAH sequence analysis of patients with PKU. Results Among 60 alleles,there were 58 mutant alleles(96. 7% ). Forty - six(81. 6% )mutant alleles were found in the exons 3,5,6,7,11,12. A total of 23 various mutations were detected,including missense(n = 9), splicing(n = 9),nonsense(n = 2),small deletion(n = 2)and large deletion(n = 1). The most common mutations were R243Q(18. 3% ),IVS4 - 1G ﹥ A(11. 7% )and R111X(11. 7% ). Among them,a novel mutation N393del was detec-ted in exon 11. MLPA identified a large deletion(c. - 1932 + 3402del)in 3 patients,1 of them was homoallelic muta-tion,and the others were heteroallelic mutation. Conclusions There are obvious hotspots and hot spot areas of PAH gene in PKU patients in Ningxia. There is a large deletion mutation in PKU patients in Ningxia. The MLPA is an effec-tive assay to detect large deletion in PAH gene.
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ObjectiveTo summarize the experience of nursing patients with heat illness combined with respiratory failure. Method The nursing records of 13 patients with heat illness combined with respiratory failure were reviewed for summarizing the nursing measures.Result After treatment and nursing care,12 of them were discharged and 1 died from multiple organ dysfunction. Conclusions Rapid cooling is key to the success of rescue.The nursing measures include keeping respiratory tracts unobstructed and preventing complications from artificial airway and mild hypothermia therapy.
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Objective To evaluate the effect of two polymorphisms(rs761737 and rs2269058) of RNF8 and the interactions with cigarette smoking and alcohol consumption on sperm DNA fragment index (DFI)and primary male infertility .Methods Based on case-control design ,polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology was used to de-tect the genotype of rs761737 and rs2269058 in RNF8 between 332 primary male infertile patients (composed by 87 patients of azoospermia ,166 patients of oligoasthenozoospermia and 79 patients of normozoospermia ) and 329 controls ,and Sperm Chromatin Dispersion(SCD) assay was used to assess sperm DNA fragment index (DFI) .Results Genotype and allele frequencies distribution of rs761737 and rs2269058 between cases and controls had no statistically significant difference (P>0 .05) .Sperm DFI in infertile group (46 .2 ± 22 .3)% was significantly higher than that of control group (21 .4 ± 9 .2)% (P0 .05) .There was an inter-action between RNF8 rs2269058 and Cigarettes smoking(P<0 .05 ,OR=2 .37 ,95% CI 1 .06-5 .27) .Conclusion Although RNF8 rs761737 and rs2269058 have no effects on primary male infertility and sperm DFI ,cigarettes smoking increase the risk of primary male infertility in individuals who carry RNF8 rs2269058 AC+AA genotype .Sperm DFI is an important test to assess sperm quali-ty ,it is vital to reveal the etiology of primary male infertility and provide therapy guidance to clinicians .
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Objective:To improve teaching quality of laboratory teaching in medical cell biology on foreign students.Methods:To improve teaching language,teaching material,teaching methods and so on.Results:We got significant improvement on laboratory teaching of foreign students in medical cell biology.Conclusion:In order to improve teaching quality of laboratory teaching in medical cell biology on foreign students,we should improve on many different ways and accumulate experiences for future teaching.