1.A novel variation in ATP1A3 gene in a child with CAPOS syndrome
Fan ZHANG ; Jing WANG ; Liping ZOU ; Mengna ZHANG ; Shuo DUN ; Guang YANG
Chinese Journal of Pediatrics 2020;58(3):233-235
2.Laser Doppler flowmeter study on regional cerebral blood flow in early stage after standard superficial temporal artery-middle cerebral artery bypass surgery for moyamoya disease.
Dun-zhu GESANG ; Dong ZHANG ; Ji-zong ZHAO ; Shuo WANG ; Yuan-li ZHAO ; Rong WANG ; Jian-jun SUN ; Ze MENG
Chinese Medical Journal 2009;122(20):2412-2418
BACKGROUNDStandard superficial temporal artery-middle cerebral artery (STA-MCA) bypass surgery is an effective treatment for moyamoya disease, but recent evidence suggests that postoperative cerebral hyperperfusion can occur. In this study, the trendline of changes in regional cerebral blood flow (rCBF) after surgery were continually monitored near the site of anastomosis in order to investigate both the efficacy of the procedure for improving rCBF and the possible risk of hyperperfusion.
METHODSStandard STA-MCA bypass surgery was performed on 13 patients. rCBF was measured continually using laser Doppler flowmetry (LDF) until the 5th day after the operation with the LDF probe implanted adjacent to the area of the anastomosis. The trendline of rCBF changes postoperatively was recorded for the analysis performed using SPSS 13.0.
RESULTSThe baseline LDF value of cortical rCBF was (84.68 + or - 14.39) perfusion unit (PU), which was linear relative to absolute perfusion volume before anastomosis and (88.90 + or - 11.26) PU immediately after anastomosis (P > 0.05). The value changed significantly from before to after anastomosis (P < 0.05); it was (417.72 + or - 21.35) PU on the 1st day after surgery, and (358.99 + or - 18.01) PU, (323.46 + or - 17.38) PU, (261.60 + or - 16.38) PU and (375.72 + or - 18.45) PU on the following 4 days, respectively. The rCBF decreased gradually from the 2nd day until the 4th postoperative day, but still was at a high level (P < 0.05). However, on the 5th postoperative day the rCBF increased again to the second highest level, which was significantly different compared with the baseline value (P < 0.05), but not significantly different compared with the values on the other 4 days (P > 0.05).
CONCLUSIONSSTA-MCA anastomosis improves the cerebral blood supply significantly in the early stage after surgery, however, the risk of symptomatic hyperperfusion may exist, which may possibly occur on the 1st day and 5th day after surgery. A LDF is useful for postoperative monitoring for both the efficacy of bypass and possible risk of neurologic deterioration or bleeding from hyperperfusion.
Adolescent ; Adult ; Cerebral Revascularization ; methods ; Child ; Female ; Humans ; Laser-Doppler Flowmetry ; Male ; Middle Aged ; Middle Cerebral Artery ; surgery ; Moyamoya Disease ; surgery ; Regional Blood Flow ; physiology ; Young Adult
3. Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex
Shuo DUN ; Liping ZOU ; Mengna ZHANG ; Yangyang WANG ; Wen HE ; Huimin CHEN ; Linyan HU ; Xiaoqiao CHEN ; Qian LU ; Lingyu PANG ; Liying LIU ; Lina TANG ; Bin WANG
Chinese Journal of Pediatrics 2019;57(11):852-856
Objective:
To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease.
Methods:
A prospective self-control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People′s Liberation Army General Hospital from January 2011 to January 2019 were collected. The long-term rapamycin treatment for all patients initiated at 1 mg/(m2·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test.
Results:
Ninety-two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow-up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0,7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (
4.Prevalence and major risk factors of peripartum thromboembolic disease in different regions of Guangdong province
Qi-Tao HUANG ; Mei ZHONG ; Chen-Hong WANG ; Dun-Jin CHEN ; Zheng-Ping LIU ; Jing LI ; Shuo-Shi WANG ; Li-Ping WANG ; Tian-Rong SONG ; Xue-Jing GUO ; Ling-Zhi LENG ; Xiao-Hua LUO ; Jian LIU ; Jing-Xia QIN ; Hai-Ying LIANG ; Li-Na LIU
Chinese Journal of Epidemiology 2012;33(4):413-417
Objective To investigate the prevalence and major risk factors of peripartum thromboembolic disease in different regions of Guangdong province.Methods Data from 169 218pregnant women in different regions of Guangdong province from January 2005 to June 2010 were analyzed retrospectively.The prevalence and epidemiological characteristics of thromboembolic disease during pregnancy or puerperium were investigated.Results Of the studied population,( 1 )20 l cases ( 1.3‰ ) suffered from thromboembolic disease during pregnancy or puerperium including 128 cases of deep vein thrombosis (DVT),68 cases of cerebral venous thrombosis (CVT) and 5pulmonary embolism,the prevalence rates were 0.8‰,0.4‰,and 0.02‰ respectively.(2) Risk factors in different regions showed that,in the Pearl River Delta area,the major risk factors for DVT would include previous or family history of thrombosis,pregnancy complications,with medically involved diseases,prolonged bed rest and pregnancy weight gain > 15 kg etc.While in castern,western,northern parts of Guangdong,the major risk factors for DVT would include pregnancy weight gain > 15 kg,prolonged bed rest,preeclampsia,cesarean section and complications during pregnancy.In Pearl River Delta region,the major risk factors for CVT would include eclampsia,preeclampsia,pregnancy complications,prolonged bed rest >3 days,past history or family history of thrombosis.While eclampsia,preeclampsia,advanced age or younger age,pregnancy weight gain >15 kg,complications during pregnancy were the major risk factors for CVT in the eastern,western or northem parts of Guangdong.Conclusion Prevalence and major risk factors of peripartum thromboembolic disease in different regions of Guangdong were different.It was crucial to take effective measures in pregnant women with different epidemiological characteristics and risk factors to prevent and reduce the incidence of peripartum thromboembolic disease.
5.Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex
Shuo DUN ; Liping ZOU ; Mengna ZHANG ; Yangyang WANG ; Wen HE ; Huimin CHEN ; Linyan HU ; Xiaoqiao CHEN ; Qian LU ; Lingyu PANG ; Liying LIU ; Lina TANG ; Bin WANG
Chinese Journal of Pediatrics 2019;57(11):852-856
To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods A prospective self?control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People's Liberation Army General Hospital from January 2011 to January 2019 were collected. The long?term rapamycin treatment for all patients initiated at 1 mg/(m2·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results Ninety?two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow?up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0, 7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750, P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102, P=0.393, 0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0, 18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm) (Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214, P=0.345, 0.225, 0.301, 0.058, 0.109, 0.225, respectively). Twenty?nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions Rapamycin could decrease the diameter of TSC?related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.