RESUMEN
OBJECTIVES: This study aimed to investigate the incidence rate, clinical phenotype, gene variation spectrum, and prognosis of neonatal hyperhomocysteinemia (HHcy) and explore its diagnosis, individualised treatment, and prevention strategies. METHODS: We screened 84722 neonates for HHcy using liquid chromatography-tandem mass spectrometry (LC-MS/MS) combined with biochemical detection, urine gas chromatography-mass spectrometry (GC-MS), and next-generation sequencing (NGS) for gene analysis to comprehensively differentiate and diagnose diseases. RESULTS: 18 children (P1-P18) were diagnosed with methylmalonic acidemia (MMA) and HHcy, and fourteen known and one new variant of the MMACHC gene were found. Five children showed poor mental reactions, brain dysplasia, lethargy, hyperbilirubinemia, and jaundice, whereas the other 13 children had no evident abnormalities. These children were all cobalamin- and folic acid-reactive types, and they were mainly supplemented with cobalamin, L-carnitine, betaine, and folic acid. The mother of P12 had a prenatal diagnosis at the next pregnancy; the results showed that MMACHC gene was not pathogenic and she gave birth to a healthy baby. One child (P19) was diagnosed with methylenetetrahydrofolate reductase (MTHFR) deficiency, and one new mutation was detected in the MTHFR gene. Patient P19 showed congenital brain dysplasia, neonatal anaemia, and hyperbilirubinemia, and treatment consisted mainly of betaine and cobalamin supplementation. One child (P20) was confirmed to have methionine adenosyltransferase I (MAT I) deficiency but had no clinical manifestations. After treatment, all the children had a good prognosis. CONCLUSION: The incidence of neonatal HHcy in the Zibo area was 1/4236, and the common pathogenic variants were c.609G>A, c.80A>G, and c.482G>A in the MMACHC gene. Patients with HHcy can achieve a good prognosis if pathogenic factors and targeted treatment are identified. Gene analysis and prenatal diagnosis contribute to the early prevention of HHcy.
RESUMEN
Undisturbed soil monolith lysimeter was used to investigate the effectiveness of DCD (dicyandiamide) in reducing N2O emissions in vegetable (Chinese cabbage and pepper) field. Results showed that DCD significantly reduced total N2O emission in vegetable field. Total N2O emissions from the urea treatment without DCD reached 0.215 kg x hm(-2) for Chinese cabbage, and it reduced to 0.109 kg x hm(-2), equivalent to a 49.3% reduction. The total N2O emissions for pepper were much higher compared with those for Chinese cabbage. The total N2O emitted from the urea treatment was 2.32 kg x hm(-2) (without DCD) and it was reduced to 1.14 kg x hm(-2) with DCD application, representing a 50.9% reduction. In the control treatments where no urea was applied, the daily N2O flux was very low and it never exceeded 9 microg x (m2 x h) (-1) for Chinese cabbage and 22 microg x (m2 x h) (-1) for pepper, respectively, but DCD also reduced N2O emissions (33.5% for Chinese cabbage and 33.4% for pepper). In addition, the urea-N emission factor (EF) was 0.15%, 0.99% for Chinese cabbage and pepper without DCD, respectively, and it was reduced to 0.07%, 0.52% when DCD was applied. These results demonstrated the potential of using nitrification inhibitors (DCD) to mitigate N2O emissions in vegetable system.