ABSTRACT
Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.
ABSTRACT
Objective To observe the curative effect and prognosis of cough variance asthma(CVA) evoked by mycoplasma pneumonia(MP) treated by azithromycin combined with pumicort and bricasol.Methods 126 CVAs evoked by MP were divided randomly into two groups:the therapeutic group,were given azithromycin orally and inhaled pumicort and bricasol,the control group,were treated only by azithromycin orally.The remission rate and recurrence rate of cough between the two groups were compared.Results The remission rate and recurrence rate of cough of therapeutic group were 100% and 15.9% respectively while those of the control group were 28.6% and 60.3% respectively.The difference between two groups was significant.Conclusion Azithromycin combined with pumicort and bricasol can improve significantly the curative effect of CVA evoked by MP,decrease the recurrence and make for the prognosis.