ABSTRACT
OBJECTIVE@#To explore the genetic basis for a newborn infant suspected with Donohue syndrome.@*METHODS@#Whole exome sequencing (WES) was used to screen potential variants in the child. Suspected variants were validated through Sanger sequencing and real-time PCR.@*RESULTS@#The child was found to carry two heterozygous variants in the INSR gene, including c.3258+4(IVS17)A>G and deletion of exon 2, which were respectively inherited from her mother and father.@*CONCLUSION@#The compound heterozygous variants of the INSR gene probably underlie the disease in this patient.
ABSTRACT
Objective@#To investigate the neuroprotective effect of hyaluronidase(HAase) on rabbit brain tissue in germinal matrix-intraventricular hemorrhage(GM-IVH) premature rabbits.@*Methods@#Eighty premature rabbits of gestation age 29 days were randomly divided into normal group, GM-IVH control group and HAase treatment group.The rabbits in GM-IVH control group and HAase treatment group were given intraperitoneal injection of 50 g/L glycerol to establish GM-IVH animal model, while the premature rabbits in normal group were given the same dose of 9 g/L saline.The GM-IVH was screened by using cranial ultrasound.The premature rabbits in HAase treatment group were given HAase into the lateral forebrain while the rabbits in the GM-IVH control group were given the same dose of 9 g/L saline.In 3 days, 7 days and 14 days after birth, the premature rabbits were killed and brain tissue were separated.The expression of neuron-glial antigen 2(NG2) were detected by adopting immunohistochemical method.The expression of myelin basic protein(MBP) were detected by Western blot method.@*Results@#The expression of NG2 in 3 groups of premature rabbits decreased gradually with the increase of age[the values of NG2 in the normal group were(62.65±33.58)×104, (15.61±4.22)×104, and (13.54±4.51)×104 on the 3rd, 7th, and 14th day; those in the GM-IVH control group were (54.58±25.48)×104, (48.91±22.49)×104, (7.18±2.28)×104 on the 3rd, 7th, and 14th day; those in the HAase treatment group were (148.13±27.30)×104, (88.38±14.55)×104, (77.98±18.96)×104 on the 3rd, 7th, and 14th day]. At the same time, the expression of NG2 in the HAase treatment group was higher than that of the GM-IVH control group, and the differences were statistically significant among the 3 groups at any time(all P<0.05). The expression of MBP protein in the 3 groups increased with the increase of day age[MBP protein in the normal group were (0.30±0.22)×103, (1.91±0.43)×103, and (5.67±2.14) ×103 on the 3rd, 7th, and 14th day; those in the GM-IVH control group were (0.87±0.12)×103, (1.15±0.22)×103 and (2.54±0.69) ×103 on the 3rd, 7th, and 14th day; those in the HAase treatment group were (0.91±1.01)×103, (2.25±0.66)×103, (3.40±1.10)×103 on the 3rd, 7th, and 14th day]. The difference was statistically significant between the normal group and the HAase treatment group(P<0.05).@*Conclusions@#After HAase treatment, the expression of NG2 and MBP can be improved to a certain extent, promoting the development of oligodendrocytes and regeneration of myelin sheath.
ABSTRACT
Objective To investigate the neuroprotective effect of hyaluronidase( HAase)on rabbit brain tissue in germinal matrix-intraventricular hemorrhage( GM -IVH)premature rabbits. Methods Eighty premature rabbits of gestation age 29 days were randomly divided into normal group,GM-IVH control group and HAase treatment group. The rabbits in GM -IVH control group and HAase treatment group were given intraperitoneal injection of 50 g/L glycerol to establish GM-IVH animal model,while the premature rabbits in normal group were given the same dose of 9 g/L saline. The GM-IVH was screened by using cranial ultrasound. The premature rabbits in HAase treat-ment group were given HAase into the lateral forebrain while the rabbits in the GM-IVH control group were given the same dose of 9 g/L saline. In 3 days,7 days and 14 days after birth,the premature rabbits were killed and brain tissue were separated. The expression of neuron - glial antigen 2( NG2 )were detected by adopting immunohistochemical method. The expression of myelin basic protei(n MBP)were detected by Western blot method. Results The expression of NG2 in 3 groups of premature rabbits decreased gradually with the increase of ag[e the values of NG2 in the normal group were(62. 65 ± 33. 58)×104(,15. 61 ± 4. 22)×104 ,and(13. 54 ± 4. 51)×104 on the 3rd ,7th ,and 14th day;those in the GM-IVH control group were(54. 58 ± 25. 48)×104 ,(48. 91 ± 22. 49)×104 ,(7. 18 ± 2. 28)×104 on the 3rd ,7th , and 14th day;those in the HAase treatment group were(148. 13 ± 27. 30)×104 ,(88. 38 ± 14. 55)×104 ,(77. 98 ± 18. 96)×104 on the 3rd,7th,and 14th day]. At the same time,the expression of NG2 in the HAase treatment group was higher than that of the GM-IVH control group,and the differences were statistically significant among the 3 groups at any time(all P<0. 05). The expression of MBP protein in the 3 groups increased with the increase of day age[MBP protein in the normal group were(0. 30 ± 0. 22)×103 ,(1. 91 ± 0. 43)×103 ,and(5. 67 ± 2. 14)×103 on the 3rd , 7th,and 14th day;those in the GM-IVH control group were(0. 87 ± 0. 12)×103,(1. 15 ± 0. 22)×103 and(2. 54 ± 0. 69)×103 on the 3rd,7th,and 14th day;those in the HAase treatment group were(0. 91 ± 1. 01)×103 ,(2. 25 ± 0. 66)×103 ,(3. 40 ± 1. 10)×103 on the 3rd,7th ,and 14th day]. The difference was statistically significant between the normal group and the HAase treatment grou(p P<0. 05). Conclusions After HAase treatment,the expression of NG2 and MBP can be improved to a certain extent,promoting the development of oligodendrocytes and regeneration of myelin sheath.