Many of the falls among people with Parkinson's disease (PD) occur during sudden, on-the-spot turning which requires systematic reorientation of axial segments towards the new direction. We examined whether a disturbance in the coordination of segmental reorientation is an important cause of turning difficulty in individuals with PD and is altered by dopaminergic medication.

The sequence and timing of segmental reorientation during 45° and 90° on-the-spot turns was examined in fourteen individuals with PD while “off” and “on” medication and nineteen healthy controls (HC).

Regardless of the magnitude of the turn, HC reoriented their head, shoulder, and pelvis simultaneously followed by mediolateral foot displacement. PD patients displayed temporal coordination patterns similar to the HC. PD however, reduced the velocity and early magnitude of reorientation of each body segment which were both slightly improved by dopaminergic medication.

Our finding that the HC and PD patients turn en bloc when the turn is predictable and there are no time constraints shows that the strategy of en bloc turning is not wrong if the movement parameters are unconstrained. However, in real life situations, which usually require quick and unpredictable turns, the en bloc strategy may be unsafe and more likely to result in falls. While in such situations HC are able to change the strategy from en bloc to sequential segmental turning, PD patients may not be able to do so and continue to turn en bloc.

We explored the early expression of NF-κB, MCP-1 and -MMP 9 in a rabbit carotid aneurysm model, and investigated the possible mechanism of aneurysm.

twenty four adult new Zealand rabbits were divided into four groups. normal control (group a); rabbits received elastase induction for 1, 2 3 weeks (group b, C and d respectively); hematoxylin-eosin stains were performed for observation. the mrna and protein expression of NF-κB, MCP-1 and MMP-9 were analyzed using RT-PCR and immunohistochemical methods.

the expression of NF-κB and MCp-1 reached their peaks after induction for one week, then decreased. their expression in week 1 and week 2 had no statistical difference. the expression of MMP-9 increased after induction. We observed the highest expression at week 3. as the induction time increased, the number of smooth muscles reduced. endothelial cells were damaged; the aneurysm wall elastic layer was damaged.

activation of NF-κB may be one of the initiating factors contributing to the occurrence and development of cerebral aneurysm. MCP-1 induced macrophage adhesion and infiltration in the artery wall of cerebral aneurysms, and contributed to the occurrence and development of brain aneurysm. damage to elastic fibers is one of the key factors for aneurysm formation. increased infiltration of inflammatory cells and the secretion of MMP-9 are the main reasons for elastic fiber damage.

Radiosurgery can be delivered through a variety of modalities including robotic and fixed gantry linacbased systems. They appear equally effective and safe. Thus, community need and costs remain the main determinants for choosing a given modality. We performed an economic evaluation to identify settings in which one modality could be preferred over the other.

Using local estimates of resource volumes and unit prices, we computed the incremental cost/patient of robotic radiosurgery compared to fixed-gantry radiosurgery from a payer's perspective. By varying parameters of resource volumes, we performed a probabilistic analysis stratified by number of brain lesions. in addition, we performed sensitivity analyses to examine the effect of patient volume on cost/patient.

The cost of robotic radiosurgery was $4,783/patient, and cost of fixed-gantry radiosurgery was $5,166/patient. The mean incremental cost was $-383 (95% interval: $-670, $110) for all lesions, $78 ($23, $123) for solitary lesions, and $-610 ($-679, $-534) for multiple lesions. The cost/patient of robotic radiosurgery varied from $5,656 (low volume setting) to $4,492 (high volume setting).

in settings of moderate to high volume (6-10 hours of daily operation), and in multiple lesions, robotic radiosurgery is more cost effective than fixed-gantry radiosurgery.

The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two known SACS mutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability.

Search for SACS mutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin.

A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98 SACS mutations did not uncover carriers of two mutations. Compounds heterozygotes for one missense SACS mutation were found to minimally express sacsin.

The large number of SACS mutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge of SACS mutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

To determine the representation of Tourette Syndrome (TS) in fictional movies and television programs by investigating recurrent themes and depictions.

Television and film can be a source of information and misinformation about medical disorders. Tourette Syndrome has received attention in the popular media, but no studies have been done on the accuracy of the depiction of the disorder.

International internet movie databases were searched using the terms “Tourette’s”, “Tourette’s Syndrome”, and “tics” to generate all movies, shorts, and television programs featuring a character or scene with TS or a person imitating TS. Using a grounded theory approach, we identified the types of characters, tics, and co-morbidities depicted as well as the overall representation of TS.

Thirty-seven television programs and films were reviewed dating from 1976 to 2010. Fictional movies and television shows gave overall misrepresentations of TS. Coprolalia was overrepresented as a tic manifestation, characters were depicted having autism spectrum disorder symptoms rather than TS, and physicians were portrayed as unsympathetic and only focusing on medical therapies. School and family relationships were frequently depicted as being negatively impacted by TS, leading to poor quality of life.

Film and television are easily accessible resources for patients and the public that may influence their beliefs about TS. Physicians should be aware that TS is often inaccurately represented in television programs and film and acknowledge misrepresentations in order to counsel patients accordingly.

Stereotactic radiosurgery (SRS) is known to safely result in a high obliteration rate for small and medium sized arteriovenous malformations (AVM).

To evaluate the long-term outcome of patients treated with SRS, with special emphasis given to obliteration and toxicity rates.

We performed a review of 43 cerebral AVM patients, treated from 1998 to 2008 with a single SRS dose ranging from 21-25 Gy. Of these, 37 had a minimal follow-up of one year. Medical files were reviewed to assess patient and AVM characteristics, the SRS treatment, therapy prior to SRS, the obliteration rate and toxicities. Whenever necessary, outcome data was supplemented by telephone interviews with the patient or treating physician.

AVM size was ≥3cm in diameter in 21% of patients. Five patients (11.6%) underwent surgery prior to SRS and 31 patients (72.1%) received one or more embolizations prior to SRS. Of the patients followed with angiography ≥1 year post-SRS, 89% (33/37) had a complete obliteration of the nidus, after a median time of 24.7 months post-treatment. Embolization prior to SRS was not predictive of outcome. One patient suffered a non-fatal haemorrhage between treatment and obliteration. The rate of symptomatic radiation-induced radiological changes was 8.1%.

Our study shows both obliteration and complication rates in the upper limit of those reported in the literature. SRS seems an attractive treatment option for small AVMs. Unlike other reports, the prior use of embolization did not impact negatively on obliteration rates.

To identify predictors of good outcome in acute basilar artery occlusion (BAO).

Acute ischemic stroke (AIS) caused by BAO is often associated with a severe and persistent neurological deficit and a high mortality rate.

The set consisted of 70 consecutive AIS patients (51 males; mean age 64.5±14.5 years) with BAO. The role of the following factors was assessed: baseline characteristics, stroke risk factors, pre-event antithrombotic treatment, neurological deficit at time of treatment, estimated time to therapy procedure initiation, treatment method, recanalization rate, change in neurological deficit, post-treatment imaging findings. 30- and 90-day outcome was assessed using the modified Rankin scale with a good outcome defined as a score of 0–3.

The following statistically significant differences were found between patients with good versus poor outcomes: mean age (54.2 vs. 68.9 years; p=0.0001), presence of arterial hypertension (52.4% vs. 83.7%; p=0.015), diabetes mellitus (9.5% vs. 55.1%; p=0.0004) and severe stroke (14.3% vs. 65.3%; p=0.0002), neurological deficit at time of treatment (14.0 vs. 24.0 median of National Institutes of Health Stroke Scale [NIHSS] points; p=0.001), successful recanalization (90.0% vs. 54.2%; p=0.005), change in neurological deficit (12.0 vs. 1.0 median difference of NIHSS points; p=0.005). Stepwise binary logistic regression analysis identified age (OR=0.932, 95% CI=0.882–0.984; p=0.012), presence of diabetes mellitus (OR=0.105, 95% CI=0.018–0.618; p=0.013) and severe stroke (OR=0.071, 95% CI=0.013–0.383; p=0.002) as significant independent negative predictors of good outcome.

In the present study, higher age, presence of diabetes mellitus and severe stroke were identified as significant independent negative predictors of good outcome.

We aimed to examine changes in serum bilirubin and uric acid (UA) levels in subcortical ischemic vascular disease (SIVD). In addition, we investigated if altered serum bilirubin and UA levels correlate with the subtypes of SIVD as well as the severity of leukoaraiosis (LA).

This cross-sectional study included 1098 consecutive patients with slight symptoms, such as dizziness, vertigo etc. According to magnetic resonance imaging (MRI) appearances, they were divided into either SIVD group or controls (CN), and the SIVD group was further grouped in lacunar infarction (LI) and LA subtypes, as well as different grades. Serum bilirubin and UA levels were determined by the vanadate oxidase method and enzymatic method respectively, after at least an eight hour overnight fasting, in all subjects.

The bilirubin level was obviously lower while the UA level was significantly higher in the SIVD group when compared with the controls. Moreover, the LA subgroup presented more significant changes in bilirubin and UA when compared to the LI subgroup in both males and females. The correlation was positive between the UA levels and the LA severity (r=0.134, p=0.006). Multivariate regression analysis revealed that the odds ratio (95% CI) for SIVD in the lowest tertile of total bilirubin (Tbil<9.58μmol/L) and highest tertile of UA (UA>339μmol/L) were 2.702(1.936–3.770) and 2.135(1.521–2.996) respectively after adjusting for confounding variables.

Serum bilirubin levels were lower, whereas UA levels were higher in SIVD patients when compared with controls in both males and females, especially in LA patients. Moreover, serum UA levels positively correlated to LA severity.

Gamma Knife (GK) radiosurgery for pituitary adenomas can offer a means of tumor and biologic control with acceptable risk and low complication rates.

Retrospective review of all the patients treated at our center with GK for pituitary adenomas from Nov 2003 to June 2011.

We treated a total of 86 patients. Ten were lost to follow-up. Mean follow was 32.8 months. There were 21 (24.4%) growth hormone secreting adenomas (GH), 8 (9.3%) prolactinomas (PRL), 8 (9.3%) adrenocorticotropic hormone secreting (ACTH) adenomas, 2 (2.3%) follicle stimulating hormone/luteinizing hormone secreting (FSH/LH) adenomas, and 47 (54.7%) null cell pituitary adenomas that were treated. Average maximum tumor diameter and volume was 2.21cm and 5.41cm3, respectively. The average dose to the 50% isodose line was 14.2 Gy and 23.6 Gy for secreting and non-secreting adenomas respectively. Mean maximal optic nerve dose was 8.87 Gy. Local control rate was 75 of 76 (98.7%), for those with followup. Thirty-three (43.4%) patients experienced arrest of tumor growth, while 42 (55.2%) patients experienced tumor regression. Of the 39 patients with secreting pituitary tumors, 6 were lost to follow-up. Improved endocrine status occurred in 16 (50.0%), while 14 (43.8%) demonstrated stability of hormone status on continued pre-operative medical management. Permanent complications included: panhypopituitarism (4), hypothyroidism (4), hypocortisolemia (1), diabetes insipidus (1), apoplexy (1), visual field defect (2), and diplopia (1).

Gamma Knife radiosurgery is a safe and effective means of achieving tumor growth control and endocrine remission/stability in pituitary adenomas.

The overall prognosis of brainstem gliomas is very poor, and the current treatment cannot significantly prolong the overall survival of these patients; therefore, studying the molecular biological mechanisms of the occurrence and development of brainstem gliomas has important significance for their treatment. The Wnt/β-catenin signaling pathway is closely associated with the occurrence and development of tumors, but its relationship with brainstem gliomas remains unclear.

This study used Western blot and immunohistochemistry methods to detect the expressions of Wnt/β-catenin signaling pathway-related components such as Wnt-1, Wnt-2, β-catenin and C-myc in six cases of normal brain tissues and 24 cases of brainstem gliomas and analyzed the relationship between their expressions and clinicopathological characteristics.

Wnt-1 had no obvious expression in normal brain tissues and did not show any significant difference between high- and low-grade brainstem gliomas; the expressions of Wnt-2, β-catenin and C-myc in high-grade brainstem gliomas were significantly higher than that in low-grade brainstem gliomas and normal brain tissues and were positively correlated with the expression of Ki-67. Moreover, the expressions of Wnt-2 and C-myc were significantly associated with the prognosis of brainstem glioma patients; additionally, there was a trend toward increased β-catenin expression with shorter survival, but there was no statistical difference.

Wnt/β-catenin signaling pathway might be abnormally activated and plays an important role in the occurrence and development of brainstem gliomas. Wnt-2, β-catenin and C-myc may be potential targets for brainstem glioma treatment.