The microsurgical treatment for primary hypertensive brainstem hemorrhage: Experience with 52 patients.

OBJECTIVE: This study aims to investigate the effect of minimal invasive microsurgery in treating primary hypertensive brainstem hemorrhage (PHBH). METHODS: 52 patients of PHBH (≥3.5 ml) who have taken the minimal invasive microsurgery with neuronavigation guidance were included between Jan. 2011 and Dec. 2018. The volume/location/type of hematoma, preoperative Glasgow Coma Scale (GCS), postoperative Glasgow Outcome Scale (GOS) and hemorrhagic dilatation of the fourth ventricle were analyzed during the follow-up period ranged from 3 to 57 months. RESULTS: Among all the patients, 18 achieved complete hematoma evacuation (≥95%), 31 achieved subtotal evacuation (≥90%), 3 achieved premodinantly evacuation (>75%). No rebleeding during or after surgery within 24 h were found. 45 patients survived after 3 months, the mean preoperative hematoma volume decreased from 7.1 ± 2.6 ml-0.9 ml (p < 0.05), 19 patients got GOS Grade V/Ⅳ. It is shown the volume less than 10 ml always led to better outcome while massive and bilateral hematoma were related with poor prognosis. CONCLUSION: The microsurgical hematoma evacuation under neuronavigation assistance is a rapid, effective, and safe technique for the removal of PHBH, especially for the volume less than 10 ml.

Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.</p><p><b>METHODS</b>Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation.</p><p><b>RESULTS</b>Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation.</p><p><b>CONCLUSION</b>In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.</p>