Objective:To detect the genes of common genetic diseases in newborns with the high-throughput sequencing technology based on target gene capture, to study the incidence rate of such diseases, the carrying rate and variant types of pathogenic mutations related to such diseases, and to explore the application value of the high-throughput sequencing technology in screening genetic diseases of newborns.Methods:The heel blood of 1 793 newborns born in Guangdong province from June 2019 to April 2020 were collected, and the exon regions of 138 common genetic disease-related genes in neonates were detected using the high-throughput sequencing technology based on target gene capture.The pathogenicity of the mutations was interpreted according to the " Classification Criteria and Guidelines for Genetic Variation(2017)" , in which known disease and probable disease were considered as positive mutations.The positive mutations were verified by Sanger sequencing technology, and the test results were analyzed with statistical methods.Results:Among the 1 793 newborns, 978 were male and 815 were female.A total of 158 positive cases were screened(8.81%), and 11 positive diseases were detected.Among the positive diseases, there were 41 cases(2.29%)of autosomal recessive deafness type 1A, 40 cases(2.23%)of Gilbert syndrome or Crigler-Najjar syndrome, and 33 cases(1.84%)of glucose-6-phosphate dehydrogenase deficiency(1.84%), 19 cases(1.06%)of familial hypercho-lesterolemia, 18 cases(1.00%) of sodium taurocholate cotransporter peptide deficiency disease, 2 cases(0.11%)of mitochondrial non-syndromic deafness, 2 cases(0.11%)of Citrin deficiency, 1 case(0.06%)of holocarboxylase synthase deficiency, 1 case(0.06%)of β-thalassemia and 1 case(0.06%)of metachromatic leukodystrophies.Of all studied cases, 972 carried one or more positive mutations, involving 85 kinds of diseases in total.The diseases with a high carrying rate were Gilbert syndrome or Crigler-Najjar syndrome(359 cases, 20.02%), autosomal recessive deafness type 1A(302 cases, 16.84%), and sodium taurocholate cotransport peptide deficiency disease(291 cases, 16.22%). The high-frequency mutation sites were UGT1A1 gene c. 211G> A, GJB2 gene c .109G> A and SLC10A1 gene c. 800C> T. Conclusions:The common genetic diseases detected in neonates from Guangdong province are autosomal recessive deafness type 1A, Gilbert syndrome or Crigler-Najjar syndrome, glucose-6-phosphate dehydrogenase deficiency, familial hypercholesterolemia, and sodium taurocholate cotransport peptide deficiency.There are high-frequency carrying mutation sites in the population.Preliminary genetic screening of common neonatal genetic diseases can accumulate data and experience for the development of newborn genetic screening.

Objective:To investigate the clinical efficacy of multi-point acupuncture and lavage on removing facial filling material.Methods:From May 2015 to May 2020, the Department of Plastic Surgery of Tianjin Time Plastic Aesthetic Clinic removed the filling materials from 38 patients (4 males, 34 females; 19-55 years, with average 28 years). During the operation, multi-point acupuncture were performed with an 18G needle to perforate different cavities of the fillers to press them out; with injection syringe flushing fluid was injected with a needle into the filling material area with repeated lavage through puncture points.Results:On average, 90% of the filling materials were recovered by this method, 5 cases were removed twice; follow-up for 6-12 months after operation showed that postoperative appearance was natural, and no scar and hyperpigmentation occurred; there were no cases of postoperative infection with ideal effects.Conclusions:Multi-point acupuncture and lavage treatment can remove more facial filling material; although there is also small amount of filling material left, it is not affect clinical efficacy. This method basically does not damage the surrounding normal tissue, and therefore it is worthy of clinical application.

Objective: To explore the inhibitory effect of icotinib combined with cytokine induced killer (CIK) on various human lung adenocarcinoma cell lines in vitro. Methods: The inhibitory effect of icotinib alone or icotinib combined with CIK on HCC827 and A549 cells was detected by cell counting kit-8(CCK-8). The apoptosis was detected by flow cytometry via Annexin V/PI staining. The effect of icotinib on CIK phenotype was detected by flow cytometry. Results: The inhibitory rates of HCC827 cells treated with 1.5, 3, 6, 12 μmol/L icotinib were (5.64±0.05)%, (8.62±0.45)%, (14.57±0.65)% and (18.52±0.91)%, respectively. The inhibitory rates of A549 cells were (1.64±0.48)%, (2.09±0.28)%, (3.69±0.45)%, (4.41±0.58)%, respectively. At the same concentration, the inhibitory rate of HCC827 cells with icotinib treatment was significantly higher than that of A549 cells (P<0.05). When the effector/target ratio was 10∶1, 20∶1 or 40∶1, the inhibitory rates of HCC827 cells co-cultured with CIK were (15.17±2.33)%, (42.59±7.18)%, (62.59±8.95)%, respectively, and the inhibitory rates of A549 were(16.99±2.81)%, (46.31±1.89)%, (58.24±4.23)%, respectively. The inhibitory rate of HCC827 cells co-cultured with CIK was not significantly different from that of A549 cells at the same effector/target ratio (P_10∶1=0.299, P_20∶1=0.318, P_40∶1=0.366). When the effector/target ratio of CIK combined with 6 μmol/L icotinib was 10∶1, 20∶1 or 40∶1, the inhibitory rates of HCC827 cells were (37.07±3.50)%, (76.03±6.55)%, (80.34±10.69)%, respectively, and the inhibitory rates of A549 cells were(25.72±1.41)%, (52.76±3.82)%, (62.26±1.94)%, respectively. The inhibitory rates of 6 μmol/L icotinib combined with CIK were significantly higher than those of icotinib group and CIK group alone at the same effector/target ratio (P<0.05), except for the effector/target ratio at 40︰1 on A549 cells (P=0.089). Moreover, all of the combination index (CI) of combined group were <1 (P<0.05). The apoptotic rates of HCC827 and A549 cells induced by icotinib combined with CIK were significantly higher than those of icotinib group and blank control group (P<0.05), especially the proportion of late apoptotic or necrotic cells.Increasing effector/target ratio of CIK contributed to stronger inhibition(P<0.05). The expressional rate of CIK phenotype with or without icotinib treatment was not significantly different from each other(P>0.05). Conclusions EGFR mutant lung adenocarcinoma cells are more sensitive to icotinib, while the EGFR mutation status has no effect on the killing effect of CIK cells. icotinib combined with CIK has a synergistic effect on the inhibition of tumor growth, and icotinib has no any impact on the phenotype of CIK cells.