Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report / 中国当代儿科杂志

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.

Oil yield, components and antimicrobial activity of volatile oils of Cinnamomi Cortex from different growth environments and growth years / 中草药

Objective: To investigate the oil yield, components and antimicrobial activity of the essential oil of Cinnamomi Cortex from different growth environments and growth years. Methods: Cinnamon oil was extracted by steam distillation, the chemical components were separated and identified by GC-MS, and the relative content of each component was determined by area normalization. The diameter of the inhibition zone and the minimum inhibitory concentration (MIC) were measured using filter paper method and micro dilution method. The antimicrobial effect of seven copies of cinnamon oil on three common pathogens of respiratory tract were evaluated. Results: The highest oil yield was 10-year-old cinnamon (6.41%), the lowest was 20-year-old (1.75%), and sparse planting (4.48%) was the best among 15-year-old cinnamon. A total of 44 compounds were identified in the seven samples. The major common components with a relative content of more than 1% were trans-cinnamaldehyde (16.23%-73.08%), α-copaene (7.39%-41.70%), β-cadinene (2.22%-12.30%), and α-muurolene (1.00%-9.16%). The antibacterial experiments showed that essential oil of cinnamon from different growth environments and growth years had obvious inhibitory effect on the tested strains of Staphylococcus aureus and Escherichia coli, but weaker inhibitory effect on Pseudomonas aeruginosa. Among them, volatile oil of 15-year-old sparse planting and close planting cinnamon had better antimicrobial activity. Conclusion: Oil yield, essential oils components and antimicrobial activity of cinnamon were affected by growth environments and growth years. Cinnamon oil contains other effective antimicrobial components besides cinnamaldehyde and α-copaene.