该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等...该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等,其中4人已去世。基因检测提示先证者UBE2A基因存在2~3号外显子缺失,来自母亲。荧光定量聚合酶链反应显示,先证者和表舅UBE2A基因存在2~3号外显子缺失,先证者之母亲、外婆及表姨奶UBE2A基因存在2~3号外显子杂合缺失;先证者之父亲、姐姐、表姨UBE2A基因2~3号外显子拷贝数均正常。文献报道的34例患者临床表型多样,UBE2A基因突变(22/34,65%)和大片段缺失(12/34,35%)为主要突变类型。中重度智力障碍(34/34,100%)、言语障碍(33/34,97%)、特殊面容(32/34,94%)等是MRXSN患者主要的临床表现。该病具有明显的表型异质性,尽早明确诊断有利于优生优育。展开更多
UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),U...UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),UBE2O’s multifunctionality allows it to regulate substrate degradation,subcellular localization,and functional modulation.Emerging studies highlight its critical roles in protein quality control,erythroid differentiation,metabolic regulation,and maintenance of circadian rhythm.Dysregulation of UBE2O is implicated in various diseases,including cancers,neurodegenerative disorders,and metabolic diseases.This review extensively discusses the unique structural features,diverse biological functions,and pathological roles of UBE2O,as well as its therapeutic potential for associated diseases.展开更多
目的:通过Meta分析对比单通道内镜及单侧双通道内镜(UBE)在治疗腰椎管狭窄症的临床疗效。方法:检索PubMed、Cochrane Library、Embase和Web of Science等数据库(从建库到2023年10月)对单通道内镜和单侧双通道内镜治疗腰椎管狭窄症疗效...目的:通过Meta分析对比单通道内镜及单侧双通道内镜(UBE)在治疗腰椎管狭窄症的临床疗效。方法:检索PubMed、Cochrane Library、Embase和Web of Science等数据库(从建库到2023年10月)对单通道内镜和单侧双通道内镜治疗腰椎管狭窄症疗效的临床研究进行检索。提取纳入研究的结局指标,包括:腰部和腿部疼痛的VAS评分、术后ODI评分、手术时间、住院天数、并发症发生率、手术优良率。使用Revman 5.3软件对数据进行统计学分析,单个率采用优势比(odds ratios, OR),连续性变量采用加权平均差异(weighted mean difference, WMD),并给出可信区间(confidence interval, CI)为95%。结果:总共有6项研究,515名患者被纳入该Meta分析。UBE手术相对于单通道内镜有着更短的手术时间(WMD −12.37, 95%CI −22.15~−2.6, P = 0.01)。两组患者在腰痛VAS评分[术后第一天(WMD 0.27, 95%CI −0.29~0.82, P = 0.35)、末次随访(WMD −0.02, 95%CI −0.1~0.06, P = 0.63)]、腿痛VAS评分[术后第一天(WMD −0.17, 95%CI −0.43~0.09, P = 0.20)、末次随访(WMD 0.03, 95%CI −0.15~0.15, P = 0.51)、ODI评分(WMD −0.1, 95%CI −0.67~0.47, P = 0.73)、并发症(OR 0.72, 95%CI 0.37~1.41, P = 0.34)、住院天数(WMD −0.06, 95%CI −0.27~0.15, P = 0.56)、手术优良率(OR 1.32, 95%CI 0.69~2.53, P = 0.56)等方面均无明显差异。结论:UBE和单通道内镜治疗腰椎管狭窄症的临床疗效和并发症发生率无明显差异。而UBE与单通道内镜组相比有着更短的手术时间。Objective: To compare the clinical efficacy of uniportal endoscoppic and biportal endoscopic (UBE) decompression for the treatment of lumbar spinal stenosis through meta-analysis. Methods: PubMed, Cochrane Library, Embase and Web of Science databases were searched (from the establishment of the database to October 2023) to compare the clinical studies on the clinical efficacy of uniportal and biportal endoscopy in the treatment of lumbar spinal stenosis. The outcome indicators included in the study were extracted, including VAS score of lumbar and leg pain, postoperative ODI score, operation time, length of hospital stay, complication rate, and surgical excellence rate. Statistical analysis was performed using Revman 5.3 software. A fixed or random effects model was used with odds ratios (OR) for single rate and weighted mean difference (WMD) for continuous variables, and confidence intervals CI was 95%. Results: A total of 6 studies with 515 patients were included in this meta-analysis. Compared with uniportal endoscopy, UBE surgery had a shorter operation time (WMD −12.37, 95%CI −22.15~2.6, P = 0.01). There was no significant difference between groups in VAS scores for low back pain (first day after surgery (WMD 0.27, 95%CI 0.29~0.82, P = 0.35), final follow-up (WMD −0.02, 95%CI 0.1~0.06, P = 0.63), and leg pain first day after surgery (WMD −0.17, 95%CI −0.43~0.09, P = 0.20), final follow-up (WMD 0.03, 95%CI −0.15~0.15, P = 0.51), ODI score (WMD −0.1, 95%CI −0.67~0.47, P = 0.73), complications (OR 0.72, 95%CI 0.37~1.41, P = 0.34), length of hospital stay (WMD −0.06, 95%CI 0.27~0.15, P = 0.56), and rate of excellent operation (OR 1.32, 95%CI 0.69~2.53, P = 0.56). Conclusion: There is no significant difference in clinical efficacy and complication rate between UBE and single channel endoscopy in the treatment of lumbar stenosis. Compared with the single channel endoscopic group, UBE has a shorter operation time.展开更多
文摘该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等,其中4人已去世。基因检测提示先证者UBE2A基因存在2~3号外显子缺失,来自母亲。荧光定量聚合酶链反应显示,先证者和表舅UBE2A基因存在2~3号外显子缺失,先证者之母亲、外婆及表姨奶UBE2A基因存在2~3号外显子杂合缺失;先证者之父亲、姐姐、表姨UBE2A基因2~3号外显子拷贝数均正常。文献报道的34例患者临床表型多样,UBE2A基因突变(22/34,65%)和大片段缺失(12/34,35%)为主要突变类型。中重度智力障碍(34/34,100%)、言语障碍(33/34,97%)、特殊面容(32/34,94%)等是MRXSN患者主要的临床表现。该病具有明显的表型异质性,尽早明确诊断有利于优生优育。
基金Supported by Special Projects in Key Areas for Guangdong Provincial Colleges and Universities (No.2021ZDZX2009)Guangzhou Medical University Discipline Construction Funds (Basic Medicine)(No.JCXKJS2022A05)。
文摘UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),UBE2O’s multifunctionality allows it to regulate substrate degradation,subcellular localization,and functional modulation.Emerging studies highlight its critical roles in protein quality control,erythroid differentiation,metabolic regulation,and maintenance of circadian rhythm.Dysregulation of UBE2O is implicated in various diseases,including cancers,neurodegenerative disorders,and metabolic diseases.This review extensively discusses the unique structural features,diverse biological functions,and pathological roles of UBE2O,as well as its therapeutic potential for associated diseases.
文摘目的:通过Meta分析对比单通道内镜及单侧双通道内镜(UBE)在治疗腰椎管狭窄症的临床疗效。方法:检索PubMed、Cochrane Library、Embase和Web of Science等数据库(从建库到2023年10月)对单通道内镜和单侧双通道内镜治疗腰椎管狭窄症疗效的临床研究进行检索。提取纳入研究的结局指标,包括:腰部和腿部疼痛的VAS评分、术后ODI评分、手术时间、住院天数、并发症发生率、手术优良率。使用Revman 5.3软件对数据进行统计学分析,单个率采用优势比(odds ratios, OR),连续性变量采用加权平均差异(weighted mean difference, WMD),并给出可信区间(confidence interval, CI)为95%。结果:总共有6项研究,515名患者被纳入该Meta分析。UBE手术相对于单通道内镜有着更短的手术时间(WMD −12.37, 95%CI −22.15~−2.6, P = 0.01)。两组患者在腰痛VAS评分[术后第一天(WMD 0.27, 95%CI −0.29~0.82, P = 0.35)、末次随访(WMD −0.02, 95%CI −0.1~0.06, P = 0.63)]、腿痛VAS评分[术后第一天(WMD −0.17, 95%CI −0.43~0.09, P = 0.20)、末次随访(WMD 0.03, 95%CI −0.15~0.15, P = 0.51)、ODI评分(WMD −0.1, 95%CI −0.67~0.47, P = 0.73)、并发症(OR 0.72, 95%CI 0.37~1.41, P = 0.34)、住院天数(WMD −0.06, 95%CI −0.27~0.15, P = 0.56)、手术优良率(OR 1.32, 95%CI 0.69~2.53, P = 0.56)等方面均无明显差异。结论:UBE和单通道内镜治疗腰椎管狭窄症的临床疗效和并发症发生率无明显差异。而UBE与单通道内镜组相比有着更短的手术时间。Objective: To compare the clinical efficacy of uniportal endoscoppic and biportal endoscopic (UBE) decompression for the treatment of lumbar spinal stenosis through meta-analysis. Methods: PubMed, Cochrane Library, Embase and Web of Science databases were searched (from the establishment of the database to October 2023) to compare the clinical studies on the clinical efficacy of uniportal and biportal endoscopy in the treatment of lumbar spinal stenosis. The outcome indicators included in the study were extracted, including VAS score of lumbar and leg pain, postoperative ODI score, operation time, length of hospital stay, complication rate, and surgical excellence rate. Statistical analysis was performed using Revman 5.3 software. A fixed or random effects model was used with odds ratios (OR) for single rate and weighted mean difference (WMD) for continuous variables, and confidence intervals CI was 95%. Results: A total of 6 studies with 515 patients were included in this meta-analysis. Compared with uniportal endoscopy, UBE surgery had a shorter operation time (WMD −12.37, 95%CI −22.15~2.6, P = 0.01). There was no significant difference between groups in VAS scores for low back pain (first day after surgery (WMD 0.27, 95%CI 0.29~0.82, P = 0.35), final follow-up (WMD −0.02, 95%CI 0.1~0.06, P = 0.63), and leg pain first day after surgery (WMD −0.17, 95%CI −0.43~0.09, P = 0.20), final follow-up (WMD 0.03, 95%CI −0.15~0.15, P = 0.51), ODI score (WMD −0.1, 95%CI −0.67~0.47, P = 0.73), complications (OR 0.72, 95%CI 0.37~1.41, P = 0.34), length of hospital stay (WMD −0.06, 95%CI 0.27~0.15, P = 0.56), and rate of excellent operation (OR 1.32, 95%CI 0.69~2.53, P = 0.56). Conclusion: There is no significant difference in clinical efficacy and complication rate between UBE and single channel endoscopy in the treatment of lumbar stenosis. Compared with the single channel endoscopic group, UBE has a shorter operation time.
