Objective:To explore the effects of vitamin D (VD) on lysosome activity and calcium channel protein Mcoln-1 in hippocampus and cortex of rats after traumatic brain injury (TBI).Methods:Forty-five SD rats were randomly divided into control group (Sham group), TBI model group (TBI group) and calcitriol treatment group (Calcitriol group). TBI models were established by electronic cortical impactor in TBI group and Calcitriol group. The rats in Calcitriol group were given of calitriol (1 μg/kg) by intraperitoneal injection at 30 min, 24 h and 48 h after TBI.Western blot was used to detect the expression of Mcoln-1, LAMP-1 and cathepsin-B in hippocampus and cortex region of rats. Immunofluorescence was used to detect the co-localization of Mcoln-1 and neurons three days later. Morris water maze test was performed on the 8th, 9th and 10th day after surgery in all groups.Results:Morris water maze results showed that compared with sham group((19.54±3.54)s, (18.64±4.63)s, (17.64±5.88)s), the latency of seeking platform escape ((58.75±6.65)s, (50.64±5.56)s, (42.64±5.87)s) were significantly increased in TBI group ( t=18.042, 14.325, 10.117; all P<0.05). On the 8th, 9th and 10th day after modeling, the escape latency of Calcitriol group((44.54±3.75)s, (30.74±4.74)s, (24.43±4.75)s)were significantly lower than those of TBI group ( t=6.539, 8.909, 7.369, all P<0.05). Western blot results showed that the expression of Mcoln-1 in cortex and hippocampus of TBI group were not significantly different from those of Sham group (both P>0.05). Compared with TBI group, the expression of Mcoln-1 protein in cortex and hippocampus of rats in Calcitriol group were significantly increased ( t=18.862, 17.336, both P<0.05). Immunofluorescence showed that the expression of Mcoln-1 and NeuN (neuron marker) co-located in the cortex and hippocampus of rats in the Calcitriol group. Conclusion:VD can improve learning and memory dysfunction after TBI in rats, and its mechanism may be related to the activation of Mcoln-1 calcium channel.

Objective To investigate the perioperative nursing for patients undergoing extracranial-intracranial bypass for treatment of Moyamoya disease.Methods Twenty-eight patients with Moyamoya disease who were refractory to maximal medical therapy were recruited in our hospital from March, 2011 to December, 2012, for extracranial-intracranial bypass surgery.Results For the twenty-eight patients with Moyamoya disease, twenty-three had improved in clinical symptoms after EC-IC bypass, the incidence of TIA and cerebral hemorrhage were reduced;postoperative aphasia occurred in four cases;one patient was comatose after operation and complicated with pneumonia.Under appropriate treatment and nursing,twenty-seven patients recovered in two weeks without complications like pneumonia or Deep Venous Thrombosis ( DVT ) .The only patient with complications recovered and was discharged in three weeks under careful nursing.Conclusions For Moyamoya disease patients undergoing EC-IC bypass surgery, timely and intensively perioperative nursing care, prevention and early management of complications, are the key factors of improving clinical outcome and ensuring patient recovery.

Objective:To explore the clinical characteristics and variant of CREBBP gene in a fetus with Rubinstein-Taybi syndrome (RSTS). Methods:A fetus with RSTS diagnosed at the Third Affiliated Hospital of Zhengzhou University in August 2022 was selected as the study subject. Clinical data, amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:Foot malformation, cerebellar vermis agenesis, brain agenesis, polysyndactyly of the big toes and other phenotypes were found by prenatal ultrasound. WES revealed that the fetus has harbored a heterozygous c. 4684G>T (p.E1562*) variant in exon 28 of the CREBBP gene (NM_004380.3), which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+ PS2_Moderate+ PM2_Supporting). After genetic counseling, the couple had opted to terminate the pregnancy and refused autopsy for the fetus. Conclusion:The c. 4684G>T (p.E1562*) variant of the CREBBP gene probably underlay the RSTS in this fetus. The newly discovered variant has enriched the mutational spectrum of the CREBBP gene and illustrated that WES is an efficient tool for the prenatal diagnosis of RSTS.