Cerebral venous sinus thrombosis (CVST) is a rare clinicopathological entity. The incidence of CVST in children and neonates has been reported to be as high as 7 cases per million people, whereas in adults the incidence is 3–4 cases per million. The predisposing factors to this condition are mainly genetic and acquired prothrombotic states and infection. The clinical picture of CVST is nonspecific, highly variable, and can mimic several other clinical conditions. Diagnosis of CVST is established with the implementation of neuroimaging studies, especially MR imaging and venography. Identification and elimination of the underlying cause, anticoagulation, proper management of intracranial hypertension, and anticonvulsant prophylaxis constitute cornerstones of CVST treatment. Newer treatment strategies such as endovascular thrombolysis and decompressive craniectomy have been recently used in the treatment of patients with CVST with variable success rates. Further clinical research must be performed to delineate the exact role of these newer treatments in the management of severe cases of CVST. The recent advances in the diagnosis and treatment of patients with CVST have significantly lowered the associated mortality and morbidity and have improved the outcome of these patients.
BackgroundVisual dysfunction is common in Parkinson’s disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD.MethodsPD patients and controls were recruited and underwent VF testing with static automated perimetry and RNFL examination with optical coherence tomography (OCT). Cognitive performance using Mini Mental State Examination (MMSE), PD staging using modified Hoehn and Yahr (H-Y) scale and duration of the disease was recorded in PD patients.ResultsOne randomly selected eye from each of 24 patients and 24 age-matched controls was included. OCT RNFL thickness analysis revealed no difference in the inferior, superior, nasal or temporal sectors between the groups. The average peripapillary RNFL was also similar in the two groups. However, perimetric indices of generalized sensitivity loss (mean deviation) and localized scotomas (pattern standard deviation) were worse in patients with PD compared to controls (p < 0.01). 73% of eyes of PD patients had glaucomatous-like asymmetrical hemifield defects with abnormal Glaucoma Hemifield Test and various combinations of arcuate defects (n = 12), nasal steps (n = 11) and paracentral scotomas (n = 16). Bilateral defects were found in 14 patients (58%). No correlation was found between VF indices and MMSE or H-Y scores.ConclusionPD patients may demonstrate glaucomatous-like perimetric defects even in the absence of decreased RNFL thickness.
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphate-independent receptor for glucocerebrosidase (β-GCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the β-GCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy body-related pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidate-gene study of 347 Greek patients with sporadic PD and 329 healthy controls was conducted to investigate the association between 5 polymorphisms in the SCARB2 gene (rs6824953, rs6825004, rs4241591, rs9991821, and rs17234715) and the development of PD. The single-locus analysis for the 5 polymorphisms revealed an association only for the rs6825004 polymorphism: the generalized odds ratio (OR(G) ) was 0.68 (95% confidence interval [CI], 0.51-0.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.56-0.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding.
Restless legs syndrome (RLS) is very common in hemodialysis patients. RLS induces motor excitability and discomfort during rest periods, and those symptoms have also been observed during hemodialysis sessions. The aim of the study was to assess whether a single bout of exercise could reduce periodic limb movements (PLM) occurring during hemodialysis. Eighteen hemodialysis patients were eligible and participated in the study. Using the RLS criteria and further verified by the presence of PLM during sleep, patients were divided to non-RLS and RLS groups. Three scenarios were studied during three different sessions: 1) light exercise, including cycling for 45 minutes with no added resistance, 2) heavy exercise, including cycling for 45 minutes with a resistance set at 60% of their exercise capacity, and 3) no exercise, including rest for the same period of time. In all sessions, PLM per hour of hemodialysis (PLM/hHD) was recorded. A single bout of either light or heavy exercise was equally effective in significantly reducing PLM/hHD in patients with RLS compared with the no-exercise scenario, whereas in non-RLS patients, no effect was observed. Independent of intensity, a single bout of intradialytic exercise reduces PLM/hHD in hemodialysis patients with RLS. Further research is needed to establish the acute role of exercise in ameliorating the RLS symptoms.
A 73-year-old man with a history of non-Hodgkin lymphoma (NHL) presented 6 months after systemic remission was achieved with a painless mandible drop (figure 1), weakness of masseters and pterygoids, loss of corneal reflex, and impaired facial sensation. Brain MRI (figure 2) demonstrated gadolinium enhancement of both trigeminal nerves, and CSF analysis was compatible with NHL recurrence.1 No other evidence of systemic disease progression was found. The patient experienced partial resolution of his symptoms and signs after administration of intrathecal methotrexate and systemic chemotherapy.CSF invasion of malignant cells is the most likely mechanism of isolated NHL recurrence in the CNS. However, the biologic mechanism underlying the confined cranial nerve infiltration is still poorly understood, although a neurotropic nature of malignant cells has been hypothesized.
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