ABSTRACT
Objective@#To explore the genetic basis of a neonate with argininosuccinic aciduria (ASA).@*Methods@#A neonate with lethargy and food refusal was admitted. The patient had myoclonus, myasthenia, uroschesis, irregular breathing and paroxysmal ventricular tachycardia, and died at 75 hours after birth. Laboratory test showed marked increase in blood ammonia (1249.8 μmol/L). Peripheral blood samples of the patient, her parents and sister were collected and subjected to trio whole-exome sequencing.@*Results@#Whole-exome sequencing revealed that the patient has carried compound heterozygous mutations of the argininosuccinate lyase (ASL) gene, namely c. 425(exon5)_c.426(exon5) insAGCTCCCAGCT (p.Thr142Thrfs*37) and c. 626(exon8)delT (p.Leu209Argfs*42). The patient was diagnosed as ASA caused by ASL gene mutations. Her parents and her elder sister were heterozygous carriers of the above mutations and had a normal phenotype.@*Conclusion@#ASA is a severe congenital genetic metabolic disease and can manifest as onset of hyperammonemia in neonates. The clinical diagnosis is difficult and ASL gene testing may be helpful.
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a neonate with argininosuccinic aciduria (ASA).@*METHODS@#A neonate with lethargy and food refusal was admitted. The patient had myoclonus, myasthenia, uroschesis, irregular breathing and paroxysmal ventricular tachycardia, and died at 75 hours after birth. Laboratory test showed marked increase in blood ammonia (1249.8 μmol/L). Peripheral blood samples of the patient, her parents and sister were collected and subjected to trio whole-exome sequencing.@*RESULTS@#Whole-exome sequencing revealed that the patient has carried compound heterozygous mutations of the argininosuccinate lyase (ASL) gene, namely c.425(exon5)_c.426(exon5) insAGCTCCCAGCT (p.Thr142Thrfs*37) and c.626(exon8)delT (p.Leu209Argfs*42). The patient was diagnosed as ASA caused by ASL gene mutations. Her parents and her elder sister were heterozygous carriers of the above mutations and had a normal phenotype.@*CONCLUSION@#ASA is a severe congenital genetic metabolic disease and can manifest as onset of hyperammonemia in neonates. The clinical diagnosis is difficult and ASL gene testing may be helpful.
Subject(s)
Female , Humans , Infant, Newborn , Argininosuccinate Lyase , Genetics , Argininosuccinic Aciduria , Diagnosis , Genetics , Genetic Testing , Hyperammonemia , PedigreeABSTRACT
Objective:To observe the effect of curcumin(Cu) on collagen deposition and the expression of transforming growth factor-?1(TGF-?1) in neonatal rats with hyperoxia-induced pulmonary fibrosis.Methods: A total of 160 term neonatal rats within 12 hours after birth were equally randomized into Group 1(air-exposed),2(air-exposed + Cu-treated),3(hyperoxia-exposed) and 4(hyperoxia-exposed + Cu-treated).The neonatal rats in Groups 3 and 4 were kept in the chambers containing 90% concentration oxygen and intraperitoneally injected with curcumin(200mg/) in the oleum lini solution,while those in Groups 1 and 2 were exposed to room air and intraperitoneally given the same dose of oleum lini only.Five rats were randomly taken from each group and sacrificed at 3,7,14 and 21 days,respectively,after the treatment,their lungs incised for HE and Masson staining and the protein expressions of TGF-?1 detected by immunohistochemistry.Results: A great deal of collagen deposition was observed in the bronchus submucosa,the vessel wall and its surroundings,the alveollar wall and the lung interstitium in Group 3,less obvious in Group 4,and the least obvious in Groups 1 and 2.The expression of TGF-?1 was significantly higher in Group 3 than in Group 4(P
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AIM: To investigate the effect of glomerular intercellular interaction under high glucose concentration on the production of reactive oxygen species (ROS) and transforming growth factor ?_1 (TGF-?_1) in co-cultured human ECV304 cells, and to study the intervention with tea polyphenols (TPs). METHODS: The endothelial cells were cultured alone or co-cultured with mesangial cells in high glucose media with or without TPs for 0 h, 12 h and 36 h, respectively. The activity of SOD and the content of MDA in the media of the system were detected by spectrophotometry. The expression of TGF-?_1 mRNA in the endothelial cells was measured by using semi-quantitative reverse transcription PCR (RT-PCR). RESULTS: High glucose decreased the activity of SOD, increased the content of MDA and up-regulated the expression of TGF-?_1 mRNA in co-cultured ECV304 cells and the effect became more prominent than the single-cultured cells. TPs interrupted it more effectively. CONCLUSION: These data suggest that there is interaction between mesangial cells and ECV304 cells under high glucose concentration. The interaction may markedly up-regulate the production of ROS and the expression of TGF-?_1 in co-cultured ECV304 cells. TPs may protect ECV304 cells by intervening intercellular interaction.
ABSTRACT
The precocious puberty in female rats were induced by subcutaneous injection of N-methyl-DL-aspartate (NMA). The female rats with induced precocious puberty showed the same sexual feature as the rats that had normal puberty. NMA plays its role at the level of hypothalamus. Subcutaneous injection of NMA is an effective means to induce true precocious puberty in female rats.