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.     

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.     

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.     

Learning and retention of movement sequences in Parkinson's disease.

The purpose of this study was to examine motor learning and retention given extensive practice in two fundamentally different movement sequences. One sequence was a memory-driven task (performing a series of whole body positions from memory) and the other a context-driven task (buttoning). Practice took place over 3 weeks, with performance measured weekly; retention was measured weekly for 3 weeks after practice. There were 7 people with Parkinson's disease (PD) and 7 age-matched neurologically healthy people who participated in this study. Both groups improved performance on both tasks with practice, with the majority of the change for the PD group occurring between 1 and 2 weeks of practice. Although those with PD did not necessarily perform as well as age-matched controls, they learned both sequences in a manner similar to age-matched controls, and exhibited retention across the 3-week retention interval. If people with PD are given sufficient practice they can learn and retain both memory-based and context-driven movement sequences as well as age-matched controls. The results provide support for maintaining physical activity and for intervention through movement therapy.     

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。     

MRI relaxation fluctuations in acute reperfused hemorrhagic infarction.

MRI evaluations of intramyocardial hemorrhage in acute infarction have relied on T(2) and T(2)(*) shortening only. We propose a more comprehensive evaluation of hemorrhagic infarction based on the concept that fluctuations in T(2) and T(1) relaxation in acute reperfused infarction will reflect transient edema and hemoglobin oxidative denaturation to uncompartmentalized methemoglobin. Anteroapical infarction was created via percutaneous balloon in young swine (22-25 kg, N = 12). T(2), T(1), diastolic wall thickness (DWT), and the Gd-DTPA partition coefficient (lambda) were measured on days 0, 2, and 7. DWT was elevated at 1 hr postreperfusion (128% +/- 53%, P = 0.0001), and alleviated on days 2 and 7 (48% +/- 10%, P = 0.008; 53% +/- 24%, P = 0.003). T(2) and T(1) elevations were coincident with early edema (DeltaT(2) = 55% +/- 24%, P < 0.0001; DeltaT(1) = 27% +/- 18%, P < 0.04). T(2) and T(1) were nearly normal on day 2 (DeltaT(2) = 8% +/- 8%, P = 0.27; DeltaT(1) = 0% +/- 1%, P = 0.65). On day 7, T(2) increased while T(1) decreased (DeltaT(2) = 27% +/- 16%, P = 0.005; DeltaT(1) = -14% +/- 10%, P = 0.02). Lambda was elevated by >150% at all time points (P < or = 0.002). Histology verified hemorrhagic injury. T(1) and T(2) fluctuations are consistent with transient edema, as well as hemoglobin oxidative denaturation to decompartmentalized methemoglobin. This methodological development may broaden our understanding of hemorrhagic microvascular injury and improve its detection in clinical populations.     

Misoprostol in preventing postpartum hemorrhage: a meta-analysis.

OBJECTIVE: To assess misoprostol's ability to prevent postpartum hemorrhage (PPH) where no alternatives exist. Comparison to oxytocics demonstrates how similarly misoprostol achieves a level of effectiveness-obtainable only in hospitals-in remote locations around the world. METHOD: Using the Mantel-Haenszel fixed-effects model and the DerSirmonian and Laird random-effects model, summary statistics indicated that misoprostol's excess risk of PPH was only 4% when compared to oxytocics. RESULT: This risk difference was well within the range of expected results for all uterotonic agents and does not warrant branding misoprostol as an inferior drug. CONCLUSION: Conventional uterotonic drugs should not be used to set the lowest-accepted level of effectiveness in settings where they are entirely unsuitable. Continuing to weigh the benefits of one effective drug against another only delays the distribution of misoprostol in countries where it is the only feasible choice and must be measured against no treatment at all.     

脑梗死后再发缺血性卒中与脑出血患者微血管病变及预后的比较

【目的】探讨脑梗死后再发缺血性卒中与脑出血患者的临床特点、影像学上微血管病变及预后的异同。【方法】连续收集急性复发性卒中的住院病例（初发事件为脑梗死，复发事件包括脑梗死或脑出血），详细记录临床资料。观察脑内微出血及自质病变的严重程度，随访有无严重血管事件及死亡的发生。【结果】175例再发脑梗死患者。19例复发事件为脑出血的患者进入本研究。155例（88．6％）再发脑梗死患者，以及18例（94．7％）脑出血患者存在自质病变。77例（44％）再发脑梗死患者和16例（84．2％）脑出血患者存在脑内微出血。脑出血组自质病变的严重程度及微出血的数目均明显高于再发脑梗死组（P=0．033，0．016），脑出血组的死亡率及再发脑出血的危险性明显增高（P=0．034，0．036）。【结论】严重的脑自质病变及微出血的出现与脑梗死后再发脑出血有关。多发微出血提示出血风险增高。如复发事件为脑出血，则其死亡率及再次复发脑出血的风险均明显增加。     

Nimodipine treatment of subarachnoid hemorrhage

In a pilot study of 6 patients with subarachnoid hemorrhage caused by a ruptured intracranial (grade IV (Hunt and Hess) aneurysm the hemodynamics and plasma-nimodipine concentrations have been observed during a 3-week period of treatment. We found that 3 patients developed reversible hypotension during the nimodipine treatment and that the hypotension tendency could be related to the plasmanimodipine level and not to a more or less severe sensitivity to nimodipine.

Repeated measurements of blood pressure, plasma-nimodipine and regional cerebral blood flow (rCBF) are necessary for the purpose of obtaining the optimum treatment and for evaluating the effect of treatment.