Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective@#To estimate the levels of free carnitine and acylcarnitine in neonates, and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou.@*Methods@#Between November 2015 and December 2017, 216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou.They were divided into different groups according to gestational age, birth body weight, blood collecting time and season, in which the group with gestational age <37 weeks was selected as the premature delivery group, and the group with gestational age 37-41+ 6 weeks as the normal gestational age group for gestational age analysis, while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis.SPSS 16.0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry.DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic genotypes in children with positive screening, and these confirmed individuals were followed up.@*Results@#There was no statistical difference in the levels of C3, C8 and C102 between preterm infants and normal body mass infants in the gestational age group(all P>0.05), but other carnitine levels had statistically significant differences(all P<0.05). The difference of C102 level between the different birth weight groups was not statistically significant(P>0.05), but that of other carnitine levels were statistically significant(all P<0.05). There was no significant difference in the level of C182 between different blood collection time(P>0.05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0.05). Primary carnitine deficiency was diagnosed in 10 cases, including 7 cases of maternal carnitine absorption deficiency.The incidence in Xuzhou was approximately 121 690.The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou, in which pathogenic mutation type c. 1400C >G was the most common one.@*Conclusions@#Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age, birth body weight, blood collecting time and season.Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate, the clinical attention should be paid to screening for maternal carnitine absorption deficiency.

Immunological mechanisms and clinical application of photohardening in the treatment of polymorphic light eruption / 中华皮肤科杂志

Ultraviolet light hardening therapy is an effective method for the treatment of polymorphic light eruption (PLE) . Recent studies have shown that narrow-band ultraviolet B (NB-UVB) is effective and safe for the prevention of recurrence of PLE. However, its treatment mechanisms still need further elucidation, and clinical studies with large sample size are needed for long-term tracking and assessment of initial dose of photohardening, dose-addition principle, treatment frequency and maintenance treatment protocols, in order to confirm the clinical application value of ultraviolet light photohardening therapy.

Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective To estimate the levels of free carnitine and acylcarnitine in neonates,and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou. Methods Between November 2015 and December 2017,216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou. They were divided into different groups according to gestational age,birth body weight, blood collecting time and season,in which the group with gestational age <37 weeks was selected as the premature de-livery group,and the group with gestational age 37-41+6 weeks as the normal gestational age group for gestational age analysis,while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis. SPSS 16. 0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry. DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic geno-types in children with positive screening,and these confirmed individuals were followed up. Results There was no sta-tistical difference in the levels of C3,C8 and C10: 2 between preterm infants and normal body mass infants in the ges-tational age grou(p all P>0. 05),but other carnitine levels had statistically significant differences(all P<0. 05). The difference of C10: 2 level between the different birth weight groups was not statistically significant(P>0. 05),but that of other carnitine levels were statistically significant(all P<0. 05). There was no significant difference in the level of C18: 2 between different blood collection time(P>0. 05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0. 05). Primary carnitine deficiency was diag-nosed in 10 cases,including 7 cases of maternal carnitine absorption deficiency. The incidence in Xuzhou was approxi-mately 1: 21 690. The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou,in which pathogenic mutation type c. 1400C >G was the most common one. Conclusions Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age,birth body weight, blood collecting time and season. Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate,the clinical attention should be paid to screening for maternal carnitine absorp-tion deficiency.

Construction of human naive phage antibody library and primary screening of the gab antibodies against gp96 / 中国综合临床

Objective To construct a naive human Fab fragment phage display library,from which the anti-gp96 antibodies may be panned by the gp96 purified from the tissue of urothelial carcinoma in the urinary bladder and provide a basis to new therapy for the malignant tumors.Methods Peripheral blood lymphocytes were isolated from 800 ml of blood,which was obtained from four healthy blood donors.The heavy chain Fd and light chain cDNA synthesized from the total RNA of lympbocytes were amplified by PCR with variable regions 5' and 3' primers of heavy and light chain, and the amplification products were ligated into the phagemid vector pComb3, then the ligated sample was transformed into competent E.coli XL1-Blue by electroperation.The transformed cells were infected with VCSM13 helper phage to yield recombinant phage antibody Fabs.The phagemids abstracted from amplified E.coli were cut with endonucleases such as Sac Ⅰ,Xba Ⅰ,Xho Ⅰ and Spe Ⅰ, and both the phage antibody Fabs and phage-raids abstracted from amplified E.coil were amplified by PCR to monitor the insertion of the genes of light chain or heavy chain Fd fragment.The gp96 purified from the urothelial carcinoma tissue of the bladder by affinity chromatog-raphy on eoncanavalin-A sephnrose and DEAE-sephnrose ion exchange chromatography were utilized as antigens to process three rounds of panning to the original Fab antibody library.Results The quantity of total RNA and cDNA were qualified.By combination of light chain and heavy chain genes, an antibody library containing 6.6×106 clones was obtained, and both the cutting of enzymes and PCR showed that there were the genes of light chain or heavy chain Fd fragment in the phagemids.The gp96 protein was obtained from urothelial carcinoma tissue in the urinary bladder.After having been panned by gp96, the original antibody library gained enrichment by 68 times.Conclusion Utilizing the technology of phage surface display, specific antibody can be gained from the human naive Fab phage display library,which can be used for immunological therapy for tumors.