Identification of the underlying cause of intellectual disability (ID) is important as it improves genetic counselling, management, adaptation; yet its etiologic heterogeneity is challenging and often leads to an expensive work-up.

To improve this diagnostic trajectory, the multidisciplinary Complex Diagnostic Clinic (CDC) was established for ID patients with unexplained complex systemic and/or neurologic features that were referred to the CDC and evaluated by three medical specialists followed by multi-disciplinary rounds. Analyses included surveys and interviews, (retrospective) chart review, costs calculations and comparison.

24 children (9 male) were evaluated during seven clinics held over 16 months. The average patient age was 7 years 11 months (range 9 months-18 years). All the children had previously been seen by 2–10 specialist services. The diagnostic yield of the CDC was higher than expected with confirmed and working diagnoses in 11 (46%) and 9 (38%) children respectively. Cost-savings included fewer trips to hospital and fewer tests via more streamlined evaluations. Positive feedback was received from both families and medical professionals.

The CDC represents an innovative model of personalized care. Specialist collaboration in the interpretation of relevant clinical, biochemical and genomic data resulted in diagnoses, where none had previously been possible.

The aim of the present study was to determine the optimum method to detect brainstem lesions in patients with Multiple Sclerosis (MS).

72 patients with the diagnosis of relapsing-remitting MS were prospectively included. Brainstem functional system score (BSFS) (part of the expanded disability status scale (EDSS) evaluating brainstem symptomatology) was calculated. Magnetic resonance imaging (MRI) was performed on 1.5T and T1, T2, PD and fluid-attenuated inversion recovery (FLAIR) sequences were analyzed for presence of brainstem lesions. Auditory evoked potentials (AEP) and ocular and cervical vestibular evoked myogenic potentials (oVEMP and cVEMP) were performed according to the standardized protocol.

From 72 patients, 18 (25%) had clinical involvement of the brainstem. MRI showed brainstem involvement in 29 (40%) patients. Of the neurophysiological tests, AEP showed pathological result in 16 (22%) patients, oVEMP in 36 (50%) patients, cVEMP in 18 (25%) patients, and VEMP (combination of oVEMP and cVEMP) in 45 (63%) patients. VEMP detected brainstem lesions in higher percentage than clinical examination, MRI and AEP, which was statistically significant (< 0.0001, 0.012 and < 0.0001, respectively).

Results of the present study have shown that VEMPs are the optimal method to detect brainstem lesions in multiple sclerosis and that they detect them significantly better than clinical examination, AEP or MRI.

To define the incidence of new contralateral intracranial lesions following decompressive hemicraniectomy for blunt traumatic brain injury, and explore the potential association with metabolic factors that contribute to coagulopathy.

We retrospectively reviewed the records and imaging of all patients treated with hemicraniectomy for blunt traumatic brain injury at our institution from May 2007 up to and including January 2012.

Twenty patients were identified during the time period to have undergone decompressive craniectomy for blunt head injury. The average age and Glasgow Coma Scale on presentation was 44.1 years (range: 19 – 72 years) and 6.5 (range: 3 – 14) respectively. All but one patient presented with an extra-axial hematoma as their surgical indication for craniectomy. Seven patients (35.0%) developed new contralateral lesions post-craniectomy. The average peri-operative pH, bicarbonate (HCO3) and hematocrit (HCT) levels for those with new contralateral lesions were lower than those without new lesions. Five of the seven patients (71.4%) with new lesions had abnormalities on their laboratory results that have been know to be attributable to coagulopathy, with four (57.1%) having two or more abnormal results. Eight of 13 (61.5%) patients without new lesion had laboratory abnormalites, with five (38.5%) having two or more abnormalities identified.

The incidence of new contralateral lesions post-craniectomy for blunt head injury is 35.0% in our experience. There is an association between the metabolic derangements linked to trauma related coagulopathy and the formation of new lesions.

Optimal treatment of glioblastoma (GBM) in the elderly remains unclear. The impact of age on treatment planning, toxicity, and efficacy at a Canadian Cancer Centre was retrospectively reviewed.

Glioblastoma patients treated consecutively between 2004 and 2008 were reviewed. Utilizing 70 years as the threshold for definition of an elderly patient, treatments and outcome were compared in younger and elderly populations.

Four hundred and twenty one patients were included in this analysis and median overall survival (OS) for the entire cohort was 9.8 months. 290 patients were aged <70 (median age 57, range 17–69) and 131 were aged ≥70 (median age 76, range 70–93). Patients ≥70 were more likely to receive best supportive care (BSC) and all patients >70 who were treated with radiotherapy received <60 Gy (P<0.001), except one. Patients aged >70 demonstrated inferior survival (one year OS 16% versus 54% for those <70, HR 3.46, P<0.001). In patients treated with BSC only, age had no impact on survival (median survival two months in both groups, HR 0.89, P=0.75). For those treated with higher doses of radiotherapy (>30 Gy to <60 Gy), one year survival was 19% versus 24% in patients aged >70 versus <70 (HR 1.47, P=0.02) respectively.

In this retrospective single institution series, elderly patients were more likely to be treated with BSC or palliative doses of radiotherapy. Randomized phase III study results are required for guidance in treatment of this population of patients.

To prospectively investigate the incidence and prevalence of Wilson disease (WD) in Chinese Han population in Anhui Province, to analyze the genetic mutations in individuals with WD, and to provide basic epidemiological data regarding WD in this Chinese Han population.

Between November 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-F ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. The participants were from Anhui Province's Hanshan County, Jinzhai County, and Lixin County. The clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. Individuals with positive K-F rings and clinical manifestations indicative of WD underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of WD.

Of 153,370 individuals investigated in this study, nine were diagnosed with WD. In these WD individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. Of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. The other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for WD. The incidence and prevalence of WD in this population were approximately 1.96/100,000 and 5.87/100,000 respectively.

The Chinese Han population had a higher average prevalence of WD than the populations of the United States or Europe.

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.

The protective effects of a novel stilbene derivative, (E)-2-(3,4,5-trimethoxystyryl)-3,5,6-trimethylpyrazine (MSTMP), on hydrogen peroxide (H2O2)-induced human derived neuroblastoma cell (SH-SY5Y) damage and its molecular mechanisms were investigated.

SH-SY5Y cells were exposed to 200 μmol·L−1 H2O2 for 12 h. The effect of MSTMP on cell viability and apoptosis was assessed by 3-(4,5-dimethyl- thiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay and flow cytometry method. The activities of lactate dehydrogenase (LDH), superoxide dismutase (SOD) and nitric oxide synthetase (NOS) and the content of malondialdehyde (MDA), reduced glutathione (GSH) and nitric oxide (NO) in cells were determined by commercial kits. The expressions of pro-apoptotic factor caspase-3, caspase-9 and inducible NOS (iNOS) were detected by Western blotting. Intracellular formation of reactive oxygen species (ROS) was assessed using 6-carboxy-2',7'-dichlorofluorescin diacetate (DCFH-DA) fluorescent probe.

MSTMP increased the SH-SY5Y cell viability by inhibition of cell apoptosis induced by H2O2. These effects were accompanied by an increase of SOD activity, GSH level, and a decrease of MDA content. Moreover, MSTMP showed stronger effects on inhibition of LDH leakage, apoptotic cells, intracellular ROS level and the expression of caspase-3 and caspase-9 than TMP. Furthermore, MSTMP induced a decrease of NO level and the activity of iNOS, tNOS in a time-dependent manner.

MSTMP prevents H2O2-induced cell injury through anti-oxidation and anti-apoptosis via ROS-NO pathway.