Background Central neurocytoma accounts for 0.1% of primary brain tumor that often occurs in young adults. Surgery is the main treatment for central neurocytoma and the rate of 5-year survival reaches up to over 90%. ...Background Central neurocytoma accounts for 0.1% of primary brain tumor that often occurs in young adults. Surgery is the main treatment for central neurocytoma and the rate of 5-year survival reaches up to over 90%. This study aimed to assess the effect of transcortical frontal approach to surgical resection of central neurocytoma on emotion and cognitive function 5 years after surgery. Methods Telephone following-up visits were used in this study. By means of neuropsychological testing, assayed emotion, memory and abstract thinking ability of 18 patients undergoing central neurocytoma resection by transcortical frontal approach for 5 years or more, with another 21 normal cases as control group were enrolled. The data were analyzed statisticaJly by paired t test with SPSS11.5. Results Patients whose central neurocytoma was removed by transcortical frontal approach were not affected on calculating ability 5 years after operation while ability of memory declined sharply （P=-0.000）, the older, the more sharply （P=0.036）. Ability of abstract thinking was significantly reduced （P=0.000）, the older, the more significantly as well （P=-0.012）; additionally, anxiety and depression occurred in patients rather more than those of control group （P=0.000）, especially cognitive impairment. Conclusions Transcortical frontal approach for surgical resection of central neurocytoma has certain long-term influence on patients＇ life quality, vulnerable to anxiety, depression and cognitive impairment, the severity of which was correlated to age. Therefore, imDrovina suroical aoDroach will be of value for better Iona-term life aualitv of oatients.展开更多
Background Hypertrophic cardiomyopathy （HCM） is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the b...Background Hypertrophic cardiomyopathy （HCM） is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain （β-MHC） are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype. Methods The exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed. Results The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13 619 of the MYH7 gene, located at the essential light chain interacting region in S1, the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated. Conclusion The Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.展开更多
基金This work was supported by grants from the Project for Science and Technology Commission of Shanghai Municipality （No. 10JC1402200 and No. 08411953600）, the Project for the National Science Foundation for Distinguished Young Scholars of China （No. 81025013）, the Project for the National Natural Science Foundation of China （No. 30872655）, the Project for National ＂985＂ Engineering of China, the ＂Dawn Tracking＂ Program of Shanghai Education Commission, China （No. 10GG01）.
文摘Background Central neurocytoma accounts for 0.1% of primary brain tumor that often occurs in young adults. Surgery is the main treatment for central neurocytoma and the rate of 5-year survival reaches up to over 90%. This study aimed to assess the effect of transcortical frontal approach to surgical resection of central neurocytoma on emotion and cognitive function 5 years after surgery. Methods Telephone following-up visits were used in this study. By means of neuropsychological testing, assayed emotion, memory and abstract thinking ability of 18 patients undergoing central neurocytoma resection by transcortical frontal approach for 5 years or more, with another 21 normal cases as control group were enrolled. The data were analyzed statisticaJly by paired t test with SPSS11.5. Results Patients whose central neurocytoma was removed by transcortical frontal approach were not affected on calculating ability 5 years after operation while ability of memory declined sharply （P=-0.000）, the older, the more sharply （P=0.036）. Ability of abstract thinking was significantly reduced （P=0.000）, the older, the more significantly as well （P=-0.012）; additionally, anxiety and depression occurred in patients rather more than those of control group （P=0.000）, especially cognitive impairment. Conclusions Transcortical frontal approach for surgical resection of central neurocytoma has certain long-term influence on patients＇ life quality, vulnerable to anxiety, depression and cognitive impairment, the severity of which was correlated to age. Therefore, imDrovina suroical aoDroach will be of value for better Iona-term life aualitv of oatients.
文摘Background Hypertrophic cardiomyopathy （HCM） is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain （β-MHC） are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype. Methods The exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed. Results The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13 619 of the MYH7 gene, located at the essential light chain interacting region in S1, the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated. Conclusion The Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.
