OBJECTIVE To assess the relationship among the genes types ureA,cagA,vacA,gene vacA subtypes and Helicobacter pylori(Hp)-related upper gastrointestinal diseases in this study.METHODS Eighty-four Hp strains were identified from bacteria isolated and cultured from the gastric mucosa tissue.Genes ureA,cagA,vacA,and gene vacA subtypes were typed using PCR with specific primers.RESULTS In 84 identified Hp strains,the positive ratio of gene ureA was 100.00%,of gene cagA was 90.48%,and of gene vacA was 95.24%.The positive ratio of genes cagA and vacA was lower in gastric cancer than in gastritis and peptic ulcer(P0.05).CONCLUSIONS ure+,cagA+ and vacAm2 subtypes of Hp are predominant in patients with upper gastrointestinal diseases in Zhenhai District,Ningbo,Zhejiang Province.They are more common in patients with gastric ulcer and gastritis.

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported. CONCLUSION The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Female ; Heterozygote ; Humans ; Isovaleryl-CoA Dehydrogenase/genetics* ; Male ; Mutation