Clinical impact of CCM mutation detection in familial cavernous angioma

Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.     

晚期产后出血问题的探讨(附52例临床分析)

本文对52例晚期产后出血病例进行了分析,结果认为晚期产后出血与感染密切有关;在处理上诊断性刮宫仍是重要措施之一,并提出对存在感染因素的产妇,术前、产前应用抗菌素预防感染.在剖宫产过程中,可用含抗生素的溶液冲洗宫腔,以达到预防感染的目的。     

门静脉高压症的历史回顾

门静脉高压症名称的由来至今巳有100多年的历史.它的治疗则经历了一个逐步发展和完善的过程.回顾这一历史,有利于进一步完善门静脉高压症的治疗.     

介入栓塞术在头颈部肿瘤放射治疗后大出血中的应用

目的:探讨介入栓塞术治疗头颈部肿瘤放射治疗后大出血的临床应用价值。方法 :对 6例头颈部肿瘤放射治疗后大出血患者采用数字减影血管造影技术 (DSA)对颈外动脉分支进行介入栓塞治疗。结果:6例病例在DSA下均显示出血血管 ,栓塞后出血停止 ,临床效果满意。 结论:DSA下介入栓塞止血对头颈部肿瘤放射治疗后大出血是一种较为理想的治疗手段 ,操作简便、安全。     

两种剂量奥曲肽治疗食管及胃曲张静脉出血效果比较

①目的　比较两种剂量奥曲肽治疗食管、胃曲张静脉出血的临床效果。②方法　将 88例食管、胃曲张静脉出血病人随机分为奥曲肽 5 0 μg/h和 2 5 μg/h剂量组 ,观察平均止血时间、止血率、再出血率和不良反应。 ③结果　 5 0 μg/h组平均止血时间明显短于 2 5 μg/h组 (t=2 .2 4 ,P <0 .0 5 ) ,总止血率明显高于 2 5 μg/h组 (χ2 =5 .36 0 ,P <0 .0 5 ) ,再出血率较 2 5 μg/h组低 (χ2 =7.990 ,P <0 .0 5 )。两组均有 1例病人出现恶心。④结论　奥曲肽 5 0 μg/h剂量治疗食管、胃曲张静脉出血的效果优于 2 5 μg/h剂量     

Anterior Communicating Artery Aneurysm Following Radiation Therapy for Optic Glioma: Report of a Case and Review of the Literature

A 42-year-old female presented with subarachnoid hemorrhage (SAH), presumably from a radiation-induced anterior communicating artery aneurysm. Six years earlier, she had undergone radiation treatment for an optic glioma that was diagnosed based on imaging criteria. The aneurysm was successfully clipped, and the optic glioma was biopsied to verify the diagnosis histologically. Radiation-induced cerebral aneurysms often manifest with a fatal SAH. These aneurysms typically develop in the field of radiation and are diagnosed a mean of 8.52 years after radiation. Rarely, the aneurysm sac thromboses spontaneously. Clipping or coiling of the aneurysm can be an effective treatment.     

经颅多普勒超声检测对脑出血患者预后的预测价值

目的探讨经颅多普勒超声(TCD)检测对脑出血患者病情程度及预后的预测价值。方法选择首次发病且发病24h内入院的54例脑出血患者,分别于入院第1、7、21d进行床旁TCD检测,并分别对TCD的主要指标平均血流速度(Vm)及脉动指数(PI)与脑出血体积、神经功能缺损评分(MESSS)、日常生活能力评分(BI)进行相关分析。结果TCD异常主要表现为高阻力、低流速的血流频谱。连续监测发现,降低的血流速度逐渐增高,同时增高的脉动指数则逐渐降低。出血量、MESSS评分与大脑中动脉的Vm呈负相关,与PI呈正相关;而BI与大脑中动脉的Vm呈正相关,与PI呈负相关。结论TCD指标异常程度有助于判断脑出血患者的病情及评估预后。     

剖宫产术中大出血填塞纱条止血53例临床分析

目的观察宫腔填塞纱条对剖宫产术中大出血的止血效果。方法剖宫产术中大出血患者53例,常规处理方法无效后,采用宫腔填塞纱条止血,术中宫体注射缩宫素。以同期剖宫产50例为对照组,采用宫体注射缩宫素20U。结果53例经宫腔填塞纱条后,52例能迅速控制出血,有效率98.1%。与对照组比较,两组术后24h出血量、术后5d、42d子宫径线和无显著差异(P>0.05)。结论宫腔填塞纱条治疗剖宫产术中大出血有积极作用。     

1,6-二磷酸果糖改善兔脑血肿周围组织能量代谢的研究

目的:观察1,6二磷酸果糖(FDP)对血肿周围组织能量代谢的影响。方法:健康大耳白兔随机分成正常组,假手术组,脑出血组和治疗组,其中后3组又按各时间点分成1、6、12、24、48和72h组。两次注血法制作脑出血模型,测定各时点血肿周围组织乳酸含量、三磷酸腺苷(ATP)含量和磷酸果糖激酶(PFK)活性。结果:脑出血组24h后ATP含量有明显下降,治疗组ATP含量明显增高。1、6、12h治疗组乳酸含量降低,且治疗组乳酸峰值延迟至24h。治疗组PFK活性均高于脑出血组。结论:FDP可改善血肿周围组织的能量代谢。     

急性脑出血患者血清谷氨酸动态变化分析

目的通过观察脑出血（intracerebral hemorrhage，ICH）患者血清中谷氨酸的动态变化来进一步评价谷氨酸对脑出血的作用。方法选择符合条件的30例急性高血压脑实质出血患者，给予神经内科脑出血常规治疗，采用高效液相色谱法检测起病后2d内、5．6d、8-9d和15．16d的血清谷氨酸浓度，同步进行神经功能评定，同时于发病后1．3d、d5-6d及d15．16行头部CT检查了解血肿体积大小。结果脑出血患者血中谷氨酸浓度与血肿体积及神经功能缺损评分之间呈正的直线相关。经治疗后，所有病例谷氨酸水平迅速下降，在5-6d和8—9d下降速度更加明显。结论谷氨酸可能参与了自发性脑出血患者的急性期脑损伤作用。