目的分析自身免疫性胶质纤维酸性蛋白星形胶质细胞病(glial fibrillary acidic protein astrocytopathy,GFAP-A)患儿的临床特征。方法回顾性收集2020年1月—2022年2月于重庆医科大学附属儿童医院神经内科就诊的34例GFAP-A患儿的临床资料...目的分析自身免疫性胶质纤维酸性蛋白星形胶质细胞病(glial fibrillary acidic protein astrocytopathy,GFAP-A)患儿的临床特征。方法回顾性收集2020年1月—2022年2月于重庆医科大学附属儿童医院神经内科就诊的34例GFAP-A患儿的临床资料,对其临床表现、脑脊液特点、影像学检查、治疗及预后进行分析。结果34例GFAP-A患儿中位起病年龄为8.4(范围:1.9~14.9)岁。患儿主要表现为头痛(50%,17/34)、发热(47%,16/34)、视力障碍(47%,16/34)、意识障碍(44%,15/34)等。56%(19/34)患儿脑脊液检查结果异常,其中8例合并其他自身抗体阳性。重叠综合征患儿的复发率及免疫抑制剂使用率高于非重叠综合征患儿(P<0.05)。77%(24/31)患儿对免疫治疗反应好,仅1例预后不良。结论GFAP-A患儿临床症状无特异性,对免疫治疗反应好。其出现重叠综合征时易复发,早期应用免疫抑制剂可能预防复发和缓解疾病症状。展开更多
Calcium(Ca^(2+))plays an important role in determining plant growth and development because it maintains cell wall and membrane integrity.Therefore,understanding the role of Ca^(2+)in carbon and lipid metabolism could...Calcium(Ca^(2+))plays an important role in determining plant growth and development because it maintains cell wall and membrane integrity.Therefore,understanding the role of Ca^(2+)in carbon and lipid metabolism could provide insights into the dynamic changes in cell membranes and cell walls during the rapid elongation of cotton fibers.In the present study,we found that the lack of Ca^(2+)promoted fiber elongation and rapid ovule expansion,but it also caused tissue browning in the ovule culture system.RNA-sequencing revealed that Ca^(2+)deficiency induced cells to be highly oxidized,and the expression of genes related to carbon metabolism and lipid metabolism was activated significantly.All gene members of nine key enzymes involved in glycolysis were up-regulated,and glucose was significantly reduced in Ca^(2+)deficiency-treated tissues.Ca^(2+)deficiency adjusted the flowing of glycolysis metabolic.However,low K^(+)recovered the expression levels of glycolysis genes and glucose content caused by Ca^(2+)deficiency.Electrospray ionizationtandem mass spectrometry technology was applied to uncover the dynamic profile of lipidome under Ca^(2+)and K^(+)interacted conditions.Ca^(2+)deficiency led to the decrease of fatty acid(FA),diacylglycerol(DAG),glycolipid and the significant increase of triacylglycerol(TAG),phospholipid phosphatidylethanolamine(PE),phosphatidylglycerol(PG),and PC(phosphatidylcholine).Low K^(+)restored the contents of FA,phospholipids,and glycolipids,effectively relieved the symptoms caused by Ca^(2+)deficiency,and recovered the development of fiber cells.This study revealed dynamic changes in transcript and metabolic levels and uncovered the signaling interaction of Ca^(2+)deficiency and low K^(+)in glycolysis and lipid metabolism during fiber development.展开更多
Numbers of vertebrae is an important economic trait associated with body size and meat productivity in animals.However,the genetic basis of vertebrae number in donkey remains to be well understood.The aim of this stud...Numbers of vertebrae is an important economic trait associated with body size and meat productivity in animals.However,the genetic basis of vertebrae number in donkey remains to be well understood.The aim of this study was to identify candidate genes affecting the number of thoracic(TVn)and the number of lumbar vertebrae(LVn)in Dezhou donkey.A genome-wide association study was conducted using whole genome sequence data imputed from low-coverage genome sequencing.For TVn,we identified 38 genome-wide significant and 64 suggestive SNPs,which relate to 7 genes(NLGN1,DCC,SLC26A7,TOX,WNT7A,LOC123286078,and LOC123280142).For LVn,we identified 9 genome-wide significant and 38 suggestive SNPs,which relate to 8 genes(GABBR2,FBXO4,LOC123277146,LOC123277359,BMP7,B3GAT1,EML2,and LRP5).The genes involve in the Wnt and TGF-βsignaling pathways and may play an important role in embryonic development or bone formation and could be good candidate genes for TVn and LVn.展开更多
文摘目的探究容量管理联合间歇性导尿对脊髓损伤(spinal cord injury,SCI)合并神经源性膀胱(Neurogenic Bladder,NB)患者的影响。方法纳入2020年12月—2023年6月首都医科大学附属北京康复医院收治的80例SCI合并NB患者作为研究对象,利用随机数表法将其分为对照组和观察组,每组40例。对照组给予常规护理干预,观察组则给予容量管理联合间歇性导尿护理干预,均干预8周。分析两组患者干预前后膀胱安全容量、残余尿量,尿路感染发生率,自主排尿功能等级和生活质量综合评定问卷(generic quality of life inventoy-74,GQOLI-74)以观察干预效果。结果干预前,两组膀胱安全容量、膀胱残余尿量,自主排尿功能等级和GQOLI-74评分比较,差异无统计学意义(P>0.05)。干预后,两组膀胱安全容量、自主排尿功能等级和GQOLI-74各维度评分均有改善,且观察组优于对照组,差异有统计学意义(P<0.05);干预后,两组患者膀胱残余尿量较干预前均有减少,且观察组低于对照组,差异有统计学意义(P<0.05)。此外,干预期间观察组尿路感染发生率明显低于对照组,差异有统计学意义(P<0.05)。结论容量管理联合间歇性导尿不仅可有效改善SCI合并NB患者的膀胱功能、自主排尿功能,且有助于提高患者的生活质量,减少泌尿系感染发生率,值得临床应用。
文摘目的分析自身免疫性胶质纤维酸性蛋白星形胶质细胞病(glial fibrillary acidic protein astrocytopathy,GFAP-A)患儿的临床特征。方法回顾性收集2020年1月—2022年2月于重庆医科大学附属儿童医院神经内科就诊的34例GFAP-A患儿的临床资料,对其临床表现、脑脊液特点、影像学检查、治疗及预后进行分析。结果34例GFAP-A患儿中位起病年龄为8.4(范围:1.9~14.9)岁。患儿主要表现为头痛(50%,17/34)、发热(47%,16/34)、视力障碍(47%,16/34)、意识障碍(44%,15/34)等。56%(19/34)患儿脑脊液检查结果异常,其中8例合并其他自身抗体阳性。重叠综合征患儿的复发率及免疫抑制剂使用率高于非重叠综合征患儿(P<0.05)。77%(24/31)患儿对免疫治疗反应好,仅1例预后不良。结论GFAP-A患儿临床症状无特异性,对免疫治疗反应好。其出现重叠综合征时易复发,早期应用免疫抑制剂可能预防复发和缓解疾病症状。
基金supported by the National Natural Science Foundation of China(31901577)the Fundamental Research Funds for the Central Universities,China(SWU-KT22035)the State Key Laboratory of Cotton Biology Open Fund,China(CB2021A32)。
文摘Calcium(Ca^(2+))plays an important role in determining plant growth and development because it maintains cell wall and membrane integrity.Therefore,understanding the role of Ca^(2+)in carbon and lipid metabolism could provide insights into the dynamic changes in cell membranes and cell walls during the rapid elongation of cotton fibers.In the present study,we found that the lack of Ca^(2+)promoted fiber elongation and rapid ovule expansion,but it also caused tissue browning in the ovule culture system.RNA-sequencing revealed that Ca^(2+)deficiency induced cells to be highly oxidized,and the expression of genes related to carbon metabolism and lipid metabolism was activated significantly.All gene members of nine key enzymes involved in glycolysis were up-regulated,and glucose was significantly reduced in Ca^(2+)deficiency-treated tissues.Ca^(2+)deficiency adjusted the flowing of glycolysis metabolic.However,low K^(+)recovered the expression levels of glycolysis genes and glucose content caused by Ca^(2+)deficiency.Electrospray ionizationtandem mass spectrometry technology was applied to uncover the dynamic profile of lipidome under Ca^(2+)and K^(+)interacted conditions.Ca^(2+)deficiency led to the decrease of fatty acid(FA),diacylglycerol(DAG),glycolipid and the significant increase of triacylglycerol(TAG),phospholipid phosphatidylethanolamine(PE),phosphatidylglycerol(PG),and PC(phosphatidylcholine).Low K^(+)restored the contents of FA,phospholipids,and glycolipids,effectively relieved the symptoms caused by Ca^(2+)deficiency,and recovered the development of fiber cells.This study revealed dynamic changes in transcript and metabolic levels and uncovered the signaling interaction of Ca^(2+)deficiency and low K^(+)in glycolysis and lipid metabolism during fiber development.
基金the Natural Science Foundation of Shandong Province,China(ZR2020MC168)。
文摘Numbers of vertebrae is an important economic trait associated with body size and meat productivity in animals.However,the genetic basis of vertebrae number in donkey remains to be well understood.The aim of this study was to identify candidate genes affecting the number of thoracic(TVn)and the number of lumbar vertebrae(LVn)in Dezhou donkey.A genome-wide association study was conducted using whole genome sequence data imputed from low-coverage genome sequencing.For TVn,we identified 38 genome-wide significant and 64 suggestive SNPs,which relate to 7 genes(NLGN1,DCC,SLC26A7,TOX,WNT7A,LOC123286078,and LOC123280142).For LVn,we identified 9 genome-wide significant and 38 suggestive SNPs,which relate to 8 genes(GABBR2,FBXO4,LOC123277146,LOC123277359,BMP7,B3GAT1,EML2,and LRP5).The genes involve in the Wnt and TGF-βsignaling pathways and may play an important role in embryonic development or bone formation and could be good candidate genes for TVn and LVn.
