Filtered By:
Condition: Rare Diseases

This page shows you your search results in order of relevance. This is page number 13.

Order by Relevance | Date

Total 294 results found since Jan 2013.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s disease
Abstract: Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry’s disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis o...
Source: Neuromuscular Disorders - December 30, 2013 Category: Neurology Authors: A. Sagnelli, M. Savoiardo, C. Marchesi, L. Morandi, M. Mora, M. Morbin, L. Farina, A. Mazzeo, A. Toscano, S. Pagliarani, S. Lucchiari, G.P. Comi, E. Salsano, D. Pareyson Tags: Research papers Source Type: research

Percutaneous transluminal angioplasty for treatment of chronic cerebrospinal venous insufficiency in people with multiple sclerosis: a summary of a Cochrane systematic review
Conclusions There is currently no high level evidence to support or refute the efficacy or safety of percutaneous transluminal angioplasty for treatment of CCSVI in people with MS. Clinical practice should be guided by evidence supported by well-designed randomised controlled trials: closure of some of the gaps in the evidence may be feasible at completion of the six ongoing clinical trials.
Source: Journal of Neurology, Neurosurgery and Psychiatry - March 5, 2014 Category: Neurosurgery Authors: van Zuuren, E. J., Fedorowicz, Z., Pucci, E., Jagannath, V., Robak, E. W. Tags: Immunology (including allergy), Multiple sclerosis, Stroke Source Type: research

Extracranial-Intracranial Bypass for Takayasu’s Arteritis: A Case report
Conclusion STA-MCA bypass to enhance cerebral blood flow in the setting of stroke symptoms due to Takayasu’s arteritis can serve as a bridge before definitive cardiothoracic treatment of the great vessels.
Source: Interdisciplinary Neurosurgery - November 3, 2014 Category: Neurosurgery Source Type: research

Hashimoto's encephalopathy: Report of three cases
Publication date: November 2014 Source:Journal of the Formosan Medical Association, Volume 113, Issue 11 Author(s): Jan-Shun Chang , Tien-Chun Chang Both severe thyrotoxicosis and hypothyroidism may affect brain function and cause a change in consciousness, as seen with a thyroid storm or myxedema coma. However, encephalopathy may also develop in patients with autoimmune thyroid diseases independent of actual thyroid function level, and this is known as Hashimoto's encephalopathy. Although most patients are found to have Hashimoto's thyroiditis, less frequently they have Graves' disease. Clinical manifestations include e...
Source: Journal of the Formosan Medical Association - November 9, 2014 Category: Journals (General) Source Type: research

Extracranial–intracranial bypass for Takayasu’s arteritis: A case report
Conclusion STA–MCA bypass to enhance cerebral blood flow in the setting of stroke symptoms due to Takayasu’s arteritis can serve as a bridge before definitive cardiothoracic treatment of the great vessels.
Source: Interdisciplinary Neurosurgery - November 12, 2014 Category: Neurosurgery Source Type: research

Multiple Cerebral Myxomatous Aneurysms: What is the Optimal Treatment?
We present 2 cases of multiple cerebral myxomatous aneurysms and give an overview of the English literature pertaining to this disease.
Source: Journal of Stroke and Cerebrovascular Diseases - November 13, 2014 Category: Neurology Authors: Jian Zheng, Shu Li, Yong Cao, Shuo Wang, Rong Wang, Jizong Zhao Source Type: research

Hashimoto's encephalopathy: Report of three cases.
Abstract Both severe thyrotoxicosis and hypothyroidism may affect brain function and cause a change in consciousness, as seen with a thyroid storm or myxedema coma. However, encephalopathy may also develop in patients with autoimmune thyroid diseases independent of actual thyroid function level, and this is known as Hashimoto's encephalopathy. Although most patients are found to have Hashimoto's thyroiditis, less frequently they have Graves' disease. Clinical manifestations include epilepsy, disturbance of consciousness, cognitive impairment, memory loss, myoclonus, hallucinations, stroke-like episodes, tremor, in...
Source: J Formos Med Assoc - November 1, 2014 Category: Journals (General) Authors: Chang JS, Chang TC Tags: J Formos Med Assoc Source Type: research

Interest of local intra-arterial fibrinolysis in acute central retinal artery occlusion: Clinical experience in 16 patients
Conclusion In situ fibrinolysis was more effective than medical treatments or natural evolution of CRAO (VA improvement was respectively 40% and 20%). However, the benefit/risk ratio must be discussed, and an angio-CT of supra-aortic trunks could be systematically performed before thrombolysis, to assess the potential VA recovery compared with complications such as ischemic stroke.
Source: Journal of Neuroradiology - December 13, 2014 Category: Radiology Source Type: research

Anton–Babinski syndrome in an old patient: a case report and literature review
Abstract Anton–Babinski syndrome is a rare disease featuring bilateral cortical blindness and anosognosia with visual confabulation, but without dementia or any memory impairment. It has a unique neuropsychiatric presentation and should be highly suspected in those with odd visual loss and imaging evidence of occipital lobe injury. In the case discussed herein, a 90‐year‐old man presented with bilateral blindness, obvious anosognosia, and vivid visual confabulation, which he had had for 3 days. Brain computed tomography demonstrated recent hypodense infarctions at the bilateral occipital lobes. Thus, the patient was ...
Source: Psychogeriatrics - December 16, 2014 Category: Geriatrics Authors: Jiann‐Jy Chen, Hsin‐Feng Chang, Yung‐Chu Hsu, Dem‐Lion Chen Tags: CASE REPORT Source Type: research

Sneddon¿s syndrome: a comprehensive review of the literature
Sneddon?s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR).The Orpha number for SS is ORPHA820.It has been estimated that the incidence of SS is 4 per 1 million per annum in general population and generally occurs in women between the ages of 20 and 42?years. LR may precede the onset of stroke by years and the trunk and/or buttocks are involved in nearly all patients. The cerebrovascular manifestations are mostly secondary to ischemia (transient ischemic attacks and cerebral infarct). Other neurological symptoms range from ...
Source: Orphanet Journal of Rare Diseases - December 31, 2014 Category: Internal Medicine Authors: Shengjun WuZiqi XuHui Liang Source Type: research

Secured web-based video repository for multicenter studies
We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection for all projects of the Dystonia Coalition includes a standardized video of each participant. We now describe our method for collecting, serving and securing these videos that is widely applicable to other studies.
Source: Parkinsonism and Related Disorders - January 19, 2015 Category: Neurology Authors: Ling Yan, Matt Hicks, Korey Winslow, Cynthia Comella, Christy Ludlow, H.A. Jinnah, Ami R. Rosen, Laura Wright, Wendy R. Galpern, Joel S. Perlmutter Source Type: research

Sneddon¿s syndrome: a comprehensive review of the literature
Sneddon’s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR). The Orpha number for SS is ORPHA820. It has been estimated that the incidence of SS is 4 per 1 million per annum in general population and generally occurs in women between the ages of 20 and 42 years. LR may precede the onset of stroke by years and the trunk and/or buttocks are involved in nearly all patients. The cerebrovascular manifestations are mostly secondary to ischemia (transient ischemic attacks and cerebral infarct). Other neurological symptoms range ...
Source: Orphanet Journal of Rare Diseases - December 31, 2014 Category: Internal Medicine Authors: Shengjun WuZiqi XuHui Liang Source Type: research

Ella’s story: Two rare diseases and the NICU roller coaster ride
“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU. Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuria), a second rare genetic disorder, ...
Source: Thrive, Children's Hospital Boston - March 5, 2015 Category: Pediatrics Authors: Lisa Fratt Tags: Our patients’ stories Source Type: news

Review of Primary Intraventricular Hemorrhage Reveals Dichotomous Outcomes (P3.089)
Conclusion: PIVH is rare, with high morbidity and mortality, though in our study, a substantial percentage had a good outcome. Decreased LOC was the most common presentation. Hypertension was the most common contributing factor, followed by coagulopathy. Vascular lesions were less common than expected. More research is needed to fully understand this rare disease entity.Disclosure: Dr. Sirdar has nothing to disclose. Dr. Song has nothing to disclose. Dr. Ess has nothing to disclose. Dr. Jhu has nothing to disclose. Dr. Cutting has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Sirdar, B., Song, S., Ess, K., Jhu, R., Cutting, S. Tags: Cerebrovascular Disease and Interventional Neurology: Intracerebral Hemorrhage Source Type: research

Research progress on vertebrobasilar dolichoectasia.
Authors: Yuan YJ, Xu K, Luo Q, Yu JL Abstract Vertebrobasilar dolichoectasia (VBD) is a rare disease characterized by significant expansion, elongation, and tortuosity of the vertebrobasilar arteries. Current data regarding VBD are very limited. Here we systematically review VBD incidence, etiology, characteristics, clinical manifestations, treatment strategies, and prognosis. The exact incidence rate of VBD remains unclear, but is estimated to be 1.3% of the population. The occurrence of VBD is thought to be due to the cooperation of multiple factors, including congenital factors, infections and immune status, and...
Source: International Journal of Medical Sciences - June 3, 2015 Category: Biomedical Science Tags: Int J Med Sci Source Type: research