The cell killing effects and bystander effects of double suicide gene on pulmonary carcinoma cells were explored. Lung adenocarcinoma cells (A549) were transfected with different titers of adenovirus vector and followed with different concentrations of 5-FC after a recombinant adenovirus vector carrying CD/UPRT gene (Ad-CD/UPRT) was constructed. The cell viability was measured by MTT assay 4 days later. The cell viability was dropped to 30.57 %-8.62 % after 10 MOI of Ad-CD/UPRT transfected and 5-FC (10-1000 microg/mL) administration. Furthermore, Ad-CD/UPRT-infected A549 cells showed a profound neighbor cell killing effect in the same methods. These results suggested that Ad-CD/UPRT/5-FC system can effectively suppress growth of lung adenocarcinoma cells, which may provide a novel and powerful candidate for lung cancer gene therapy strategies.

The cell killing effects and bystander effects of double suicide gene on pulmonary carcinoma cells were explored. Lung adenocarcinoma cells (A549) were transfected with different titers of adenovirus vector and followed with different concentrations of 5-FC after a recombinant adenovirus vector carrying CD/UPRT gene (Ad-CD/UPRT) was constructed. The cell viability was measured by MTT assay 4 days later. The cell viability was dropped to 30.57 %-8.62 % after 10 MOI of Ad-CD/UPRT transfected and 5-FC (10-1000 μg/mL) administration. Furthermore, Ad-CD/UPRT-infected A549 cells showed a profound neighbor cell killing effect in the same methods. These results suggested that Ad-CD/UPRT/5-FC system can effectively suppress growth of lung adenocarcinoma cells, which may provide a novel and powerful candidate for lung cancer gene therapy strategies.

Objective: To determine the incidence and mutational types of fatty acid oxidation disorders (FAOD) in central-northern region of Guangxi. Methods: A total of 62 953 neonates were screened for FAOD during December 2012 and December 2017. Acyl-carnitine profiling of neonatal blood sample was performed by tandem mass spectrometry using dry blood spots on a filter paper. The diagnosis of FAOD was confirmed by organic acid profiling of urea and genetic testing. Results: Eighteen cases of FAOD were diagnosed among the 62 953 neonates. Among these, primary carnitine deficiency (PCD) was the most common type (n=13), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD) (n=2), medium- chain acyl-CoA dehydrogenase deficiency (MCADD) (n=1), multiple acyl-CoA dehydrogenase deficiency (MADD) (n=1), and carnitine palmitoyltransferaseⅡdeficiency (CPT ⅡD) (n=1). Genetic testing has revealed two previously unreported variants, i. e., c. 337G>A (p.Gly113Arg) of ACADS gene and c. 737G>T (p.Gly246Val) of ETFA gene. Conclusion PCD is the most common FAOD in central-northern Guangxi. Tandem mass spectrometry combined with genetic testing may facilitate early diagnosis of FAOD.

Objective: To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ. Methods: GCDH gene variants was detected by Sanger sequencing among the three children and their family members. Results: Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c. 532G>A (p.Gly178Arg) and c. 655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c. 532G>A(p.Gly178Arg) and c. 655G>A (p.Ala219Thr) variants. Patient 2 carried c. 532G>A (p.Gly178Arg) and a novel c. 1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c. 532G>A (p.Gly178Arg) and c. 1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c. 532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers. Conclusion The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.

OBJECTIVE: To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ. METHODS: GCDH gene variants was detected by Sanger sequencing among the three children and their family members. RESULTS: Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c.532G>A (p.Gly178Arg) and c.655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg) and c.655G>A (p.Ala219Thr) variants. Patient 2 carried c.532G>A (p.Gly178Arg) and a novel c.1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c.532G>A (p.Gly178Arg) and c.1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c.532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers. CONCLUSION The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.
Amino Acid Metabolism, Inborn Errors ; genetics ; Brain Diseases, Metabolic ; genetics ; Female ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Heterozygote ; Humans ; Male

Objective:To analyze the main effect of improving the image quality of digital radiography (DR) high kilovoltage chest radiography in Tianjin, and to provide reference for the implementation of quality control work.Methods:In November 2023, the image quality evaluation results of DR high kilovoltage chest radiographs submitted for approval by Tianjin Occupational Health Inspection Institutions from 2022 to 2023 were analyzed. According to the results of the image quality review in 2022, the outstanding problems, causes and improvement plans were summarized, and the contents of the image quality improvement projects in 2023 were determined. χ 2 test was used to compare the evaluation results of DR high kilovoltage chest radiograph image quality and the differences among various specific evaluation indicators before and after the improvement, and to compare the differences of image quality evaluation results among groups participating in different quality control improvement projects after the improvement. Results:Compared with 2022, after the implementation of the quality control improvement projects in 2023, the rate of level 1 film (excellent film) and level 2 film (good film) of DR high kilovoltage chest radiographs increased by 3.7% and 20.0%, respectively, and the rate of level 4 film (waste film) decreased by 30.0%. After the implementation of the improvement projects, the non-conformity rate and the serious non-conformity rate of 7 indicators were significantly reduced ( P<0.05). The medical institutions participating in the two quality control improvement projects of related training and on-site guidance increased the rate of level 2 film (good film) and decreased the rate of level 4 film (waste film) compared with the medical institutions participating in the one improvement project of related training (χ 2=14.78, P<0.05) . Conclusion:The quality control improvement projects can improve the image quality of Tianjin DR high kilovoltage chest radiography, and the combination of relevant training and on-site guidance may have better improvement effect.

Objective:To analyze the main effect of improving the image quality of digital radiography (DR) high kilovoltage chest radiography in Tianjin, and to provide reference for the implementation of quality control work.Methods:In November 2023, the image quality evaluation results of DR high kilovoltage chest radiographs submitted for approval by Tianjin Occupational Health Inspection Institutions from 2022 to 2023 were analyzed. According to the results of the image quality review in 2022, the outstanding problems, causes and improvement plans were summarized, and the contents of the image quality improvement projects in 2023 were determined. χ 2 test was used to compare the evaluation results of DR high kilovoltage chest radiograph image quality and the differences among various specific evaluation indicators before and after the improvement, and to compare the differences of image quality evaluation results among groups participating in different quality control improvement projects after the improvement. Results:Compared with 2022, after the implementation of the quality control improvement projects in 2023, the rate of level 1 film (excellent film) and level 2 film (good film) of DR high kilovoltage chest radiographs increased by 3.7% and 20.0%, respectively, and the rate of level 4 film (waste film) decreased by 30.0%. After the implementation of the improvement projects, the non-conformity rate and the serious non-conformity rate of 7 indicators were significantly reduced ( P<0.05). The medical institutions participating in the two quality control improvement projects of related training and on-site guidance increased the rate of level 2 film (good film) and decreased the rate of level 4 film (waste film) compared with the medical institutions participating in the one improvement project of related training (χ 2=14.78, P<0.05) . Conclusion:The quality control improvement projects can improve the image quality of Tianjin DR high kilovoltage chest radiography, and the combination of relevant training and on-site guidance may have better improvement effect.

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics

OBJECTIVE: To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment. METHODS: 111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene. RESULTS: Four cases of isovalerate acidemia were detected, which included 2 asymptomatic newborns (0.018‰, 2/111 986) and 2 children suspected for metabolic genetic diseases (0.268‰, 2/7461). The formers had no obvious clinical symptoms. Analysis of acyl carnitine has suggested a significant increase in C5, and urinary organic acid analysis has shown an increase in isovaleryl glycine and 3-hydroxyisovalerate. Laboratory tests of the two hospitalized children revealed high blood ammonia, hyperglycemia, decreased red blood cells, white blood cells, platelets and metabolic acidosis. The main clinical manifestations have included sweaty foot-like odor, feeding difficulty, confusion, drowsiness, and coma. Eight variants (5 types) were detected, which included c.158G>A (p.Arg53His), c.214G>A (p.Asp72Asn), c.548C>T (p.Ala183Val), c.757A>G (p.Thr253Ala) and 1208A>G (p.Tyr403Cys). Among these, c.548C>T and c.757A>G were unreported previously. None of the variants was detected by next generation sequencing of 2095 healthy newborns, and all variants were predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
Infant, Newborn ; Child ; Humans ; Acidosis ; Carnitine ; Erythrocytes ; High-Throughput Nucleotide Sequencing

Objective:To compare the effects of thoracoscopic anatomical segmentectomy and thoracoscopic lobectomy on patients' respiratory function.Methods:Retrospective analysis of 326 patients who underwent thoracoscopic surgery from July 2016 to July 2019(209 patients underwent anatomical segmentectomy, 117 patients underwent lobectomy). According to variables including gender, age, tumor location, smoking history and BMI, two propensity score-matched cohorts including 89 patients respectively were constructed. The patients’ baseline data and respiratory function date of the patients pre-operation and post-operation were analyzed. The measurement data that obey the normal distribution were described by mean±standard deviation, and the t-test was used for comparison between groups; the measurement data of non-normal distribution was described by the median value( P25, P75), and the Wilcoxon rank sum test was used for the comparison between groups; The data was described by frequency, and the chi-square test or Fisher's exact probability method was used for comparison between groups. Results:At the first-month follow-up after surgery, there was no significant difference in the variation of FVC[(0.48±0.40)L vs.(0.34±0.37)L, P=0.215)and FEV1[(0.52±0.46)L vs.(0.43±0.77)L, P=0.364), and in the change rate of FVC(%)[15.23(8.74, 21.25) vs. 14.58(7.75, 19.40), P=0.122], FEV1(%)[17.25(9.56, 22.78) vs. 16.42(9.15, 20.28), P=0.154]and DLCO(%)[18.54(10.88, 25.68)vs. 17.45(9.58, 23.75) P=0.245]. Between the segmentectomy group and lobectomy group, there was a significant difference in the alteration of FVC[(0.50±0.47)L vs. (0.29±0.31)L, P=0.031] and FEV1[(0.44±0.34)L vs.(0.24±0.23)L, P<0.001], the change rate of FVC(%)[14.27(7.87, 22.32) vs. 9.95(5.56, 17.24), P=0.008]、FEV1(%)[15.23(8.36, 22.17)vs. 10.05(5.15, 18.54), P<0.001]and DLCO(%)[13.74(6.24, 19.78) vs. 4.45(-2.32, 13.75), P=0.023]in the 6th month after surgery. The lobectomy group had a higher variation of FEV1[(0.34±0.49)L vs.(0.18±0.26)L, P=0.006] and change rate of FVC(%)[9.28(2.15, 18.94) vs. 5.24(0.52, 11.45), P=0.0032] and FEV1(%)[10.45(3.15, 21.32) vs. 6.50(1.55, 14.24), P<0.001] in the first year after surgery. However, the variation of FVC[(0.29±0.36)L vs.(0.21±0.24)L, P=0.176) and the change rate of DLCO(%)[8.35(2.15, 16.45) vs. 6.23(2.12, 14.54), P=0.143] didn't show a significant difference between the two groups. Conclusion:Whether in the short or the middle postoperative period, segmentectomy can preserve postoperative respiratory function than lobectomy.