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Sadanandavalli Retnaswami Chandra Pawan Raj Thomas Gregor Issac 《Indian journal of dermatology》2015,60(3):290-292
Neurodegeneration with brain iron accumulation (NBIA) is the term applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia. Well-known phenotypic features are progressive regression with extra pyramidal involvement and a variable course. A 10-year-old child born to consanguineous parents presented with progressive generalized opisthotonic dystonia, retrocollis, oromandibular dyskinesias, apraxia for swallowing, optic atrophy and severe self-mutilation of lips. MR imaging showed brain iron accumulation. Other causes of self-mutilation were excluded. Early infantile onset, ophisthotonic dystonia with oromandibular dyskinesias and characteristic MR images are suggestive of NBIA. There is only one case reported in the literature of self-mutilation in this condition. 相似文献
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We report clinical, neuroradiologic features, and neuropathologic findings of a 76‐year‐old man with coexistent Pick’s disease and progressive supranuclear palsy. The patient presented with loss of recent memory, abnormal behavior and change in personality at the age of 60. The symptoms were progressive. Three years later, repetitive or compulsive behavior became prominent. About 9 years after onset, he had difficulty moving and became bed‐ridden because of a fracture of his left leg. His condition gradually deteriorated and he developed mutism and became vegetative. The patient died from pneumonia 16 years after the onset of symptoms. Serial MRI scans showed progressive cortex atrophy, especially in the bilateral frontal and temporal lobes. Macroscopic inspection showed severe atrophy of the whole brain, including cerebrum, brainstem and cerebellum. Microscopic observations showed extensive superficial spongiosis and severe neuronal loss with gliosis in the second and third cortical layers in the frontal, temporal and parietal cortex. There were Pick cells and argyrophilic Pick bodies, which were tau‐ and ubiquitin‐positive in neurons of layers II–III of the above‐mentioned cortex. Numerous argyrophilic Pick bodies were observed in the hippocampus, especially in the dentate fascia. In addition, moderate to severe loss of neurons was found with gliosis and a lot of Gallyas/tau‐positive globus neurofibrillary tangles in the caudate nucleus, globus pallidus, thalamus, substantia nigra, locus coeruleus and dentate nucleus. Numerous thorned‐astrocytes and coiled bodies but no‐tuft shaped astrocytes were noted in the basal ganglion, brainstem and cerebellar white matter. In conclusion, these histopathological features were compatible with classical Pick’s disease and coexistence with progressive supranuclear palsy without tuft‐shaped astrocytes. 相似文献
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腰椎终板、椎间盘退变及椎间盘造影疼痛激发试验的相关性研究 总被引:13,自引:1,他引:12
目的探讨下腰痛患者腰椎终板Modic退变、椎间盘退变及CT引导下腰椎间盘造影疼痛激发试验的相关性.方法对45例下腰痛患者常规行腰椎X线和MR检查,分别按Modic终板退变标准(0~3级)与Pearce椎间盘退变标准(Ⅰ~Ⅴ级)对终板和椎间盘进行评估.在CT引导下对45例患者中的40例(120个椎间盘)进行造影和疼痛激发试验,并按Dallas椎间盘造影分级系统(DDD)测评椎间盘退变程度.采用SPSS 11.5统计学软件分析腰椎终板Modic退变、椎间盘退变与腰椎间盘造影疼痛激发试验之间的相关性.结果40例下腰痛患者的腰椎终板Modic分级与椎间盘退变Pearce分级存在较强的相关性(Pearson x^2=43.326,P=0.000),与椎间盘造影疼痛激发试验有显著相关性(Pearson x^2=27.858,P=0.000);椎间盘退变Pearce分级与CT椎间盘造影椎间盘退变Dallas分级也呈较强的相关性.结论腰椎终板Modic退变分级与椎间盘退变Pearce分级密切相关,而与椎间盘疼痛激发试验有显著相关性,提示终板Modic退变可能是下腰痛的原因之一. 相似文献
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项韧带骨化相关因素及其组织学变化 总被引:1,自引:0,他引:1
目的:探讨脊髓型颈椎病患者项韧带骨化的相关因素及其组织学改变特点.方法:将45例脊髓型颈椎病患者根据项韧带有无骨化分为两组,观察并统计两组患者的年龄、性别组成、颈椎椎间退变和颈椎稳定性情况,对各指标与项韧带骨化的关系进行相关性分析,同时观察项韧带骨化的组织学改变.结果:统计分析表明,项韧带骨化和颈椎椎间退行性改变及颈椎不稳定之间具有相关性(P<0.05);同时还与患者年龄、性别组成有相关性(P<0.05).项韧带骨化的组织学改变以软骨内化骨为主.结论:项韧带骨化与颈椎退行性改变及颈椎椎间关节不稳定具有相关性,组织学改变以软骨内化骨为主. 相似文献
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过量氟化物导致大鼠腰椎黄韧带退变与骨化 总被引:2,自引:0,他引:2
[目的]研究氟化物在黄韧带骨化中可能的作用机理。[方法]36只雄性SD大鼠,实验组饮用含NaF(质量分数为1014)蒸馏水,分别于3个月及6个月时,检测骨密度,血清、骨组织标本中Ca、P^3+、Mg、Zn、Cu、Fe、F^-含量和血清碱性磷酸酶(ALP)活性;行大鼠腰段标本X线检查后组织病理观察。[结果]3个月实验组10只大鼠中6只出现氟斑牙:6个月实验组均出现氟斑牙,且大鼠中轴骨骨密度显著增加(P〈0.05)。X线检查,6个月实验组中有4只可见黄韧带嵴状骨化影。病理观察,3个月实验组大鼠黄韧带呈退行性改变;6个月实验组部分黄韧带骨化,骨化类型以膜内骨化为主。[结论]过量氟化物可造成SD大鼠腰椎黄韧带的退变、骨化,在黄韧带的骨化中可能起重要作用。 相似文献
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J?rg Müller Klaus Seppi Nadia Stefanova Werner Poewe Irene Litvan Gregor K Wenning 《Movement disorders》2002,17(5):1041-1045
The frequency and pathophysiology of freezing of gait (FoG) in atypical parkinsonism is unknown. We analysed the frequency of FoG in postmortem-confirmed atypical parkinsonian disorders (APD) comprising corticobasal degeneration (CBD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Sixty-six patients with pathologically confirmed APD (CBD, n = 13; DLB, n = 14; MSA, n = 15; PSP, n = 24) formed the basis for a multicenter clinicopathological study. Clinical features at first and last clinical visit were abstracted from patient records on standardized forms following strict instructions. At the first visit (median 36 months after symptom onset), 24% of APD had FoG (CBD, 8%; DLB, 21%; PSP, 25%; MSA, 40%). Logistic regression analysis showed a significant association of FoG and urinary incontinence (P = 0.04) at first visit. At last visit, 47% of APD had FoG (CBD, 25%; PSP, 53%; DLB, 54%; MSA, 54%). Clinicopathological correlation based on routine postmortem examination failed to identify a consistent neuropathological substrate of FoG. This study demonstrates that (1) FoG is common in APD, and (2) urinary incontinence is significantly associated with FoG in these disorders. Whether FoG and urinary incontinence share similar neuropathological substrates remains to be determined by future studies. 相似文献
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Changes in glial fibrillary acidic protein mRNA expression after corticospinal axotomy in the adult hamster 总被引:1,自引:0,他引:1
We examined changes in the expression of glial fibrillary acidic protein (GFAP) mRNA during Wallerian degeneration in the corticospinal system of the adult Golden hamster following axotomy. GFAP is the product of a type III intermediate filament (IF) gene that is expressed specifically in mature astrocytes. A well-studied component of a complex response termed reactive astrogliosis that occurs after various types of CNS injury is the increased production of astrocytic processes filled with GFAP-containing IFs. While increased expression of GFAP during reactive astrogliosis has been well established at the protein level, little is known about whether or not changes in GFAP mRNA levels occur after CNS injury. In the present study we used in situ hybridization methods to examine this issue. A 35S-labeled mouse GFAP cDNA probe was used for in situ hybridizations of sections of the brain stem obtained 2, 7, and 14 days after unilateral transections of the corticospinal tract in the caudal medulla. Film as well as emulsion autoradiography showed a dramatic increase in GFAP mRNA labeling associated with the degenerating corticospinal tract. GFAP mRNA levels were already dramatically increased in the injured corticospinal tract by 2 days post axotomy and remained elevated at 14 days. Interestingly, in addition to the robust increase in GFAP mRNA levels specifically associated with the degenerating tract, a diffuse increase in GFAP mRNA labeling was observed throughout the grey matter of the brain stem at 2 days post-axotomy, but not after this time. Immunoblotting and immunocytochemical experiments verified that the increased GFAP mRNA levels in the degenerating corticospinal system were accompanied by an increased expression of the protein. These results demonstrate that an increase in GFAP mRNA levels occurs during Wallerian degeneration in the CNS and suggest that increased expression of the GFAP gene is a major contributor to CNS scarring that results after direct traumatic injury. 相似文献