CTA辅助下烟雾病出血累及基底节区的显微外科治疗

烟雾病所致的基底节区出血临床上并不少见,Saeki[1]报道的一组烟雾病出血中,基底节区出血约占40%左右.由于烟雾病病例的基底节区存在扩张的豆纹动脉及丘脑穿动脉,更有新生的烟雾状血管参与侧枝循环,此处发生出血后,丰富的侧枝循环可能使得烟雾病所致基底节区出血的预后与高血压脑出血不同.但关于此种出血的临床特征及预后了解还不多.吉林大学第一医院神经外科自2003年6月～2008年6月期间,共在CTA辅助下急诊治疗烟雾病所致基底节区出血15例,并与高血压基底节区出血预后进行对比,现将治疗结果报告如下.     

出血型烟雾病的临床特征及治疗

目的 分析出血型烟雾病病例的临床特征,探讨烟雾病出血的病因及治疗方法.方法 回顾性分析61例出血型烟雾病发病特征、出血部位及类型、脑血管造影特点及治疗结果.结果 61例病例中成人57例,以脑出血破入脑室发病居多.52个出血半球存在脉络膜前动脉异常扩张合并后交通动脉扩张.61例患者共行硬脑膜颞浅动脉血管融通术116例次,行硬脑膜枕动脉血管融通术2例次,2例未行手术治疗,后因再发脑出血死亡,手术后无再发出血病例.结论 脉络膜前动脉合并后交通动脉扩张是造成烟雾病出血的重要原因之一;行脑硬膜动脉血管融通术可能有益于预防再出血的发生.     

单侧烟雾病的最新研究进展

单侧烟雾病是以一侧颈内动脉末端及其主要分支进行性狭窄、闭塞以致脑底出现烟雾状血管的慢性血管病。单侧烟雾病的发病率最高达17.8%,其家族发病率占6.7%。发病年龄的双峰分布、儿童及成人的两种首发症状均与典型烟雾病基本一致,但成人单侧烟雾病患者的脑出血发生率较高,且主要为脑室出血。单侧烟雾病进展为典型烟雾病的发生率最高可达58.8%。手术治疗可有效地降低缺血性卒中的发生,提高预后,但其适应证有待进一步研究。本文就单侧烟雾病的流行病学、病因学、临床特征、影像学特征、手术及预后等最新研究进展做一综述,增强认识,为诊断及治疗打下基础。     

单侧烟雾病的最新研究进展

单侧烟雾病是以一侧颈内动脉末端及其主要分支进行性狭窄、闭塞以致脑底出现烟雾状血管的慢性血管病。单侧烟雾病的发病率最高达17．8％,其家族发病率占6．7％。发病年龄的双峰分布、儿童及成人的两种首发症状均与典型烟雾病基本一致,但成人单侧烟雾病患者的脑出血发生率较高,且主要为脑室出血。单侧烟雾病进展勾典型烟雾病的发生率最高可达58．8％。手术治疗可有效地降低缺血性卒中的发生,提高预后,但其适应证有待进一步研究。本文就单侧烟雾病的流行病学、病因学、临床特征、影像学特征、手术及预后等最新研究进展做一综述,增强认识,为诊断及治疗打下基础。     

硬通道穿刺引流治疗烟雾病脑室出血

目的 探讨烟雾病脑室出血的临床特征及硬通道穿刺引流治疗烟雾病脑室出血的疗效。方法 回顾性分析13例烟雾病脑室出血患者的临床表现,应用硬通道穿刺引流治疗烟雾病脑室出血。结果 13例烟雾病脑室出血患者CTA检查显示Suzuki分级Ⅱ级3例,Ⅲ级4级,Ⅳ级6例; 13例患者均存在脉络膜前动脉异常扩张合并后交通动脉扩张; 5例患者合并动脉瘤。13例患者均予急诊硬通道侧脑室穿刺引流,全部病例脑室血肿清除效果好。结论 硬通道穿刺引流治疗烟雾病脑室出血的手术方法简单实用,可操作性强。     

烟雾病临床表现及DSA分析

目的探讨烟雾病的临床表现及DSA特征。方法对22例病例的临床、DSA表现进行综合分析。结果脑缺血型8例(36%),脑出血型14例(64%);DSA双侧病变16例,单侧病变6例,颅底异常血管网是本病的特征。结论DSA检查是确诊烟雾病的主要方法,临床上脑室出血、SAH以及病因不明的脑实质出血及TIA均应进行常规DSA检查。     

20例出血型烟雾病的临床及影像学分析

目的分析出血型烟雾病（MMD）的临床及影像学特征。方法回顾性分析20例出血型烟雾病的临床资料,观察其临床及影像学特点。结果本组患者主要集中在35～45岁年龄组,其中80为女性。头颅CT扫描示脑室系统出血、脑实质出血及蛛网膜下腔出血;DSA表现为颈内动脉末端狭窄或闭塞,脑底烟雾状血管网、侧枝循环血管网以及动脉瘤形成。结论DSA检查是确诊烟雾病的主要方法,临床上对于无血管病变危险因素的脑出血患者均应常规行DSA检查。     

缺血型烟雾病间接搭桥与联合搭桥造影及疗效对比分析

正烟雾病是一种病因不明的慢性闭塞性脑血管病,其主要特征是双侧颈内动脉末端闭塞或狭窄和颅底的异常血管网~([1])。烟雾病分为缺血型和出血型两种。目前尚无有效药物治疗烟雾病,而外科血管重建术可以有效的改善血流动力学,改善患者症状,是治疗烟雾病的有效方法。目前烟雾病的血管重建术分为直接搭桥(颞浅动脉-大脑前动脉吻合术STA-ACA、颞浅动脉-大脑中动脉吻合术STA-MCA、枕动脉-     

出血型烟雾病的临床特征

烟雾病是一种慢性进展性脑血管病,临床上可以脑缺血或脑出血发病。出血型烟雾病合并 动脉瘤是影响预后的重要因素,脉络膜前动脉的破裂出血是引起烟雾病脑出血的主要原因,采取积极 有效的措施避免再出血的发生是治疗的关键。     

烟雾病的研究进展

烟雾病(moyamoya disease)是一种罕见的脑血管疾病,其特征是颈内动脉末端及其主要分支逐渐狭窄、闭塞,并导致在颅底部形成代偿微血管网络。该血管网在血管造影上的外观看起来就像一股烟雾在空中飘过,因此,在1969年,铃木和TAKAKU将这种新型疾病称为"烟雾病"。现在已知烟雾病病理学的主要特征是颈内动脉终末的进行性狭窄,且烟雾血管是扩张的穿支动脉,起到侧支通路的作用。本文就烟雾病的发病机制、流行病学、临床特征及诊断等作一综述。     

Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia

Moyamoya disease is a rare cerebrovascular condition characterized by steno-occlusive disease of the major intracranial arteries at the base of the brain, and the appearance of innumerable, tiny, arterial collaterals that resemble a "puff of smoke." Although it has been associated with hematologic diseases such as sickle-cell disease, the association with other hemoglobinopathies is less frequently observed. We describe the association of a unique hemoglobinopathy (hemoglobin Fairfax) with beta-thalassemia and moyamoya disease in a 9-year-old girl with a history of stroke. To our knowledge, this is the first report of this unstable hemoglobin with moyamoya disease, and it emphasizes the potential for cerebral infarction due to the severe anemia of hemolytic disease.     

Medullary Compression Due to Ectatic Vertebral Artery—Case Report and Review of Literature

Medullary compression syndrome due to anomalous course of blood vessels is a rare disease most commonly seen in the adult population. The offending vessels causing this syndrome are mostly posterior inferior cerebellar artery or the vertebral artery. The symptoms of this syndrome vary from most common hypertension to various other neurologic deficits like hemiplegia, dysesthesia, and dysarthria. Intractable dizziness is a rare symptom of this disease. The definite management plan for this disease is microvascular decompression. We present our case of medullary compression syndrome which manifested as intractable dizziness. We describe our experience in the management of this patient as well as present a review of literature of this rare disease.     

Parkinson's disease with late Pick's dementia.

We report a case in which typical clinical features of idiopathic Parkinson's disease existed for seven years prior to the development of significant behavioral and cognitive changes and severe dementia. The patient presented with right-sided resting tremor, bradykinesia, and rigidity, which were highly responsive to levodopa. Serial neuropsychological evaluation revealed no evidence of dementia until late in the disease. The patient deteriorated rapidly eight years into the disease, requiring full care. She died 16 years after symptom onset and post-mortem neuropathological analysis revealed Lewy body Parkinson's disease and Pick's disease. To our knowledge, this is the first non-familial case with this combination of clinical history and pathologically confirmed disease to be reported in the literature. The absence of a family history of any neurological disease sets this case apart from the recently described genetic cases of frontotemporal dementia with Parkinsonism linked to chromosome 17. In addition, the relatively late onset of dementia in frontotemporal dementia is atypical. While there is considerable debate regarding the cause of dementia in idiopathic Parkinson's disease, our case illustrates that Pick's disease is one such cause.     

The genetics of dementia with lewy bodies: what are we missing?

Dementia with Lewy bodies is a complex brain disorder and a key member of the Lewy body disease spectrum. Its genetic etiology is unclear, and information is scattered. However, the results of molecular genetic studies imply a genetic and mechanistic overlap with Alzheimer disease, Parkinson disease with dementia, and Parkinson disease. In this review, we provide a comprehensive overview of the current studies on dementia with Lewy bodies heritability, genetic etiology, and genetic heterogeneity. We conclude with a critical discussion of the missing heritability in dementia with Lewy bodies and encourage scientists to further explore the underlying mechanisms of this disease.     

Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis)

Protein is the major component of the intra-lysosomal storage material which characteristically accumulates in Batten's disease. In the late-infantile, juvenile and adult forms of the disease, and in a form affecting sheep, this protein is principally composed of a single polypeptide, subunit c of mitochondrial ATP synthase. Subunit c is not stored in the infantile form of Batten's disease, supporting recent genetic data which suggest this is a distinct disease. Nor is subunit c found in storage material within other lysosomal storage diseases or in lipofuscin of old age. Subunit c storage, therefore, is specific for the later-onset forms of Batten's disease and indeed may be central to their aetiology.     

The significance of motor (A)symmetry in Parkinson's disease

This study was undertaken to evaluate whether the predominant motor distribution pattern (ie, symmetric or asymmetric) observed in patients with Parkinson's disease (PD) contributes independently to disease severity and progression. We further examine whether this pattern is stable over time, and whether a potential change in pattern affects the course of the disease. We used data from the longitudinal PROPARK study (N > 400) to examine the association of the predominant motor distribution pattern with motor, cognitive, depressive, psychotic, and autonomic symptoms, and with excessive daytime sleepiness. We found that a symmetrical distribution of motor features was associated with poorer performance on nearly all domains, but that this was entirely explained by confounding, in particular by higher age and longer disease duration. We also found that greater asymmetry was associated with younger age, younger age at onset, and shorter disease duration. We further observed a clear tendency to develop a more symmetric distribution pattern as the disease advanced. Conversion to a symmetric pattern was associated with more severe disease, but this conversion did not contribute independently to the less favorable disease course. With increasing age and disease duration comes a clear tendency to develop a more symmetric distribution of motor features in PD. Although this change in distribution pattern is associated with more severe disease as compared with nonconvertors, this pattern change did not contribute independently to the less favorable course. We discuss these findings in light of the evidence from the literature. © 2014 International Parkinson and Movement Disorder Society     

The genetic basis of Parkinson's disease

Although the mechanisms underlying neurodegeneration in Parkinson's disease are not fully understood, considerable evidence suggests that genetic factors can influence susceptibility to the disease. In this article, we critically review this evidence and examine studies estimating patterns of inheritance. In a few families, Parkinson's disease is clearly inherited in a Mendelian fashion, and in some of these the disease causing genes have already been identified. Possible pathogenic mechanisms by which these genes cause Parkinson's disease are discussed. Further candidate genes and systematic efforts to identify genes influencing susceptibility to the disease in general are also summarised. The identification of such susceptibility genes will eventually enable us to more accurately classify this complex disease.     

Addicted to Food, Hungry for Drugs

There is a growing consensus among neuroscientists that people can become addicted to food, and that at least some cases of obesity have addiction as their cause. By contrast, the rest of the world continues to see obesity as either a disease of the metabolism, or as a reckless case of self-harm. Among obesity researchers, there has been a lively debate on the issue of whether obesity ought to be considered a disease. Few researchers, however, have suggested that obesity is a disease in the same sense as addiction is usually claimed to be a disease—that is, a disease of behaviour with a neurological cause. In this piece, I review what is now a compelling body of evidence for food addiction, to establish that many or most cases of obesity have addiction at their foundation. I then argue that in spite of this, obesity ought not to be considered a neurobehavioural disease in the sense usually attributed to drug addiction. Given the link between addiction and obesity, this implies that the disease conception of addiction must be abandoned. I conclude by assessing some of the implications this move has for policy and ethics, with regard to both obesity and drug addiction.     

Clinical guidelines for late-onset Pompe disease

Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness. With regard to diagnosis, the dried blood spots method is essential as the first step for the diagnosis of Pompe disease. The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the alpha-glucosidase gene. With regard to treatment with enzymatic replacement therapy, the experts say that is effective improving or stabilizating the motor function and the respiratory function and it must be introduced when the first symptoms attributable to Pompe disease appear.     

Moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma

Moyamoya disease has been associated with renal artery stenosis, cerebral hemorrhage, and multiple cranial traumas. We report a unique case of moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma. Although the etiology of moyamoya disease is unknown, a familial pattern of occurrence has been documented. Of particular importance is its presentation with polycystic kidney disease, an autosomal dominant disease, suggesting a hereditary component to the etiology of this unusual vasculitic disease.