Efficacy of a Brief Image-Based Multiple-Behavior Intervention for College Students

Background  Epidemiologic data indicate most adolescents and adults experience multiple, simultaneous risk behaviors. Purpose  The purpose of this study is to examine the efficacy of a brief image-based multiple-behavior intervention (MBI) for college students. Methods  A total of 303 college students were randomly assigned to: (1) a brief MBI or (2) a standard care control, with a 3-month postintervention follow-up. Results  Omnibus treatment by time multivariate analysis of variance interactions were significant for three of six behavior groupings, with improvements for college students receiving the brief MBI on alcohol consumption behaviors, F(6, 261) = 2.73, p = 0.01, marijuana-use behaviors, F(4, 278) = 3.18, p = 0.01, and health-related quality of life, F(5, 277) = 2.80, p = 0.02, but not cigarette use, exercise, and nutrition behaviors. Participants receiving the brief MBI also got more sleep, F(1, 281) = 9.49, p = 0.00, than those in the standard care control. Conclusions  A brief image-based multiple-behavior intervention may be useful in influencing a number of critical health habits and health-related quality-of-life indicators of college students.     

Comparing Psychosocial Predictors of Physical Activity Adoption and Maintenance

Background   Most health behavior models do not distinguish between determinants of behavior adoption and maintenance. Purpose   This study compared psychosocial predictors of physical activity (PA) adoption and predictors of PA maintenance among 205 initially sedentary adults enrolled in a home-based PA promotion trial. Methods   Psychosocial variables were measured at 6 months (at which point 107 participants remained inactive and 98 participants adopted regular PA) and used to predict 12-month PA status (an indicator of PA adoption among those inactive at 6 months and an indicator of PA maintenance among those active at 6 months). Results   Six-month PA status moderated the relationships between 6-month measures of home access to PA equipment (p = .049), self-efficacy (p = .086), and perceived satisfaction (p = .062) and 12-month PA status. Simple effects analyses revealed that home access to PA equipment was predictive of PA adoption (OR = 1.73; 95% CI: 1.05, 2.85), but not PA maintenance (OR = 0.88; 95% CI: 0.58, 1.35), whereas self-efficacy and perceived satisfaction were predictive of PA maintenance (OR = 2.65; 95% CI: 1.55, 4.52; OR = 1.95; 95% CI: 0.93, 4.06), but not PA adoption (OR = 1.50; 95% CI: 0.87, 2.57; OR = 0.82, CI: 0.44, 1.52). Conclusion   Results suggest that these psychosocial variables may operate differently in predicting PA adoption versus maintenance.     

Association of Toll-like Receptor 2 Polymorphisms with National Institute of Health Stroke Scale Scores of Ischemic Stroke Patients

Toll-like receptor 2 (TLR2) has been shown to have an important role in the postischemic inflammatory response and to contribute to ischemic brain damage. In this study, we investigated whether coding region single nucleotide polymorphisms (SNPs) of the TLR2 gene were associated with ischemic stroke (IS) and with clinical phenotypes in IS patients. We genotyped two SNPs (rs3804099 [Asn199Asn] and rs3804100 [Ser450Ser]) using direct sequencing in 202 IS patients and 291 control subjects. No SNPs of the TLR2 gene were found to be associated with IS. However, in analysis of clinical phenotypes, we found that rs3804099 was associated with the National Institute of Health Stroke Scale (NIHSS) scores of IS patients in codominant (TC vs. TT, p = 0.0005; CC vs. TT, p = 0.0007) and dominant models (TC/CC vs. TT, p = 0.0001). Also, rs3804100 revealed significant association in codominant (TC vs. TT, p = 0.0002; CC vs. TT, p = 0.008) and dominant models (TC/CC vs. TT, p < 0.0001). In allele frequency analysis, we also found that the C alleles of rs3804099 and rs3804100 were associated with higher NIHSS scores (p = 0.0003 in rs3804099; p = 0.0001 in rs3804100). Our results suggest that TLR2 may be related to severe IS.     

Abnormal Asymmetry of the Face N170 Repetition Effect in Male Patients with Chronic Schizophrenia

The N170 face repetition effect has been proposed to reflect early identity processing that underlies the acquisition of familiarity for novel faces. It was reported that the N170 face repetition effect was lateralized to the right hemisphere. Since it has been postulated that reduced or reversed brain asymmetry may be importantly related to schizophrenia pathology, the present study examined whether or not male patients with chronic schizophrenia show reduced or reversed asymmetry in the N170 face repetition effect. Seventeen male schizophrenia patients and 13 male healthy controls participated. Event-related potentials were recorded to unrepeated and repeated faces. Patients with schizophrenia showed a bilateral N170 reduction to repeated and unrepeated faces compared to healthy subjects (F[1,28] = 8.01, p = 0.009). Schizophrenia patients showed a significant decrease in N170 amplitude to repeated faces at the left occipitotemporal electrode (t[16] = 2.91, p = 0.01), whereas healthy subjects showed a significant decrease at the right occipitotemporal electrode (t[12] = 2.36, p = 0.04). These results suggest abnormal asymmetry of the N170 face repetition effect in schizophrenia.     

A Modeling Intervention in Heart Failure

Background  Peak oxygen uptake (VO₂) testing is commonly used to assess chronic heart failure (CHF) patients’ exercise tolerance. The test requires maximal effort; however, many participants have low confidence (self-efficacy) to perform optimally. Purpose  This randomized controlled trial examined the effectiveness of a modeling intervention to increase Peak VO₂ (PVO₂) and self-efficacy in people diagnosed with CHF. Methods  Twenty participants with a diagnosis of CHF were randomized to either an intervention (modeling DVD) or a control group. Both groups completed a measure of self-efficacy prior to performing two PVO₂ tests, each separated by 7 days. After completing the first test (T1) the intervention group watched a 10-min coping model DVD. All participants returned 1 week later (T2) to complete identical study procedures. Results  Analysis of covariance results showed that compared with the participants in the control group, those assigned to the modeling intervention had higher PVO₂ at T2, F (1, 19) = 4.38, p = 0.05, ή ² = 0.21 and self-efficacy, F (1, 19) = 5.80, p < 0.05, ή ² = 0.25. Only partial support was found for change in self-efficacy mediating treatment outcome (PVO₂). Conclusions  Watching a modeling video is associated with increased PVO₂ and self-efficacy. These results have implications for testing patients in a clinical setting to maximize exercise tolerance test results. Dr. Maddison is a senior research fellow at the Clinical Trials Research Unit and is supported by a National Heart Foundation of New Zealand Research Fellowship.     

A fMRI Study of Verbal Working Memory, Cardiac Output, and Ejection Fraction in Elderly Patients with Cardiovascular Disease

Cardiovascular disease (CVD) is associated with cognitive deficits even in the absence of stroke. We examined the relationship between cardiac performance, as measured by cardiac output (CO) and ejection fraction (EF), and brain activity during a verbal working memory (VWM) task in elderly CVD patients who tend to be at increased risk for vascular cognitive impairments. Seventeen patients were recruited from a cohort participating in an ongoing prospective study examining the effects of CVD on cognitive function in the elderly. Participants were diagnosed with CVD (age 68 ± 8) and completed a 2-back VWM task in a 1.5T fMRI paradigm. CO and EF were calculated from echocardiogram measures. Task-related activation was averaged in a priori regions of interest. The relationship between CO, EF, and 2-back-related activity was modeled using partial correlations (two-tailed p < .05) controlling for age and 2-back accuracy. All participants were globally cognitively intact as indicated by Mini-Mental Status Exam and Dementia Rating Scale scores. Mean accuracy on the 2-back was 78 ± 9% while reaction time averaged 1,027 ± 192 ms. Mean CO and EF values showed a large range (CO: 3.55 to 6.31; EF: 0.36 to 0.76) but average values were within the normal range. After controlling for age and 2-back accuracy, lower EF was related to decrease in left insula activity (r = 0.61, p = 0.03). There were trends for EF to be related to accuracy (r = 0.47, p = 0.09) and reaction time (r = −0.48, p = 0.09). CO was also related to insula activity (r = 0.60, p = 0.04) and activity in the supplementary motor area activity (r = 0.66, p = 0.01). Cardiac performance was related to decreased efficiency in task related brain areas and tended to be related to performance on a VWM task in elderly patients with CVD. Results have implications for a line of investigation indicating that cardiac and systemic vascular indices could be used as proxy measures to examine mechanisms of cerebrovascular dysfunction in the elderly.     

Comparison of shunt infection incidence in high-risk subgroups receiving antibiotic-impregnated versus standard shunts

Background  Shunt infection is a morbid complication of CSF shunting. Though antibiotic-impregnated shunt (AIS) systems decrease shunt infections by preventing bacterial colonization following device implantation, their effectiveness in populations at high risk for infection has recently been disputed. We set out to determine whether the categorical switch to AIS systems at our institution has resulted in a decreased incidence of shunt infection in high-risk pediatric patients. Methods  We retrospectively reviewed the records from all pediatric patients undergoing CSF shunt procedures at The Johns Hopkins Hospital over a 10-year period between January 1997 and December 2007. During the 5.75 years prior to October 2002, all CSF shunts included standard, non-AIS catheters. During the 4.25 years after October 2002, all CSF shunts included AIS catheters. High-risk subgroups were defined a priori as prematurity (<35 weeks gestational age), shunts placed immediately post-meningitis, conversion of external ventricular drains (EVD) to shunt, and replacement of nosocomial shunt infection in patients requiring prolonged hospital stay (>1 month). Results  A total of 544 pediatric patients underwent 1,072 shunt placement procedures (502 AIS, 570 non-AIS). Of patients with non-AIS catheters, 64 (11.2%) experienced shunt infection, whereas only 16 (3.2%) patients with AIS catheters experienced shunt infection (p < 0.001). AIS versus non-AIS was associated with decreased shunt infection in premature neonates [three (5.5%) vs. seven (20.0%), p = 0.030], acutely following bacterial meningitis [two (5.7%) vs. nine (25.0%), p = 0.043], when converting EVD to shunts [zero (0%) vs. four (13.3%), p = 0.030], and in patients with prolonged hospital stay >1 month [three (5.3%) vs. 12 (18.5%), p = 0.022]. Staphylococcus aureus was the most common infectious agent for both non-AIS (81.3%) and AIS (75.0%) systems. Conclusion  The introduction of AIS catheters into our institutional practice has reduced the incidence of shunt infection in pediatric populations at highest risk for infection. AIS catheters are effective instruments to prevent peri-operative colonization of CSF shunt components. Comments on this article can be found at .     

Can Psychological Factors Account for a Lack of Nocturnal Blood Pressure Dipping?

Background  In healthy individuals, blood pressure (BP) decreases, or “dips”, during sleep. Ethnicity and high daytime blood pressure level are known markers of nondipping status. The literature on psychological markers of nondipping is scant but suggests that anger/hostility and chronic stress may be contributors to nondipping. Purpose  We have investigated this phenomenon in drug-free hypertensives who participated in a clinical trial and supplied extensive demographic, psychological, and biological risk factor data after medication washout prior to any treatment. Method  Sixty-two patients were available for analysis (n = 30 nondippers). While most studies focus only on systolic BP nondipping, we explicitly studied both systolic and diastolic BP dipping as outcomes given that both have prognostic value. Results  Hierarchical multiple regression revealed that predictor variables in total accounted for 38% of variance in systolic blood pressure dipping and 44% of variance in diastolic blood pressure dipping. A significant positive predictor was alcohol consumption (β = 0.37, t = 2.8, p = 0.007) for systolic BP and β = 0.43, t = 3.7, p = 0.001 for diastolic BP), and an anger diffusion preference was also a positive predictor (β = 0.42, t = 2.7, p = 0.01) for systolic BP dipping. No measure of trait negative affect reached significance as a predictor for systolic or diastolic BP dipping. Conclusion  These findings suggest that for a better understanding of the nondipping phenomenon, behavioral risk factors are important, and anger response styles may also be worthy of further study. Furthermore, anger coping preferences may be as important, or even more so, than levels of negative affect.     

Pathways from Physical Activity to Quality of Life in Older Women

Background  In spite of consistent evidence to suggest that being more physically active is associated with enhanced quality of life (QOL), there have been remarkably few attempts to determine the possible underlying mechanisms in this relationship. Purpose  To prospectively examine the roles played by self-efficacy and physical and mental health status in the physical activity and QOL relationship in older women. Method  Older women (M age = 68.12 years) completed measures of physical activity, self-efficacy relative to balance, mental and physical health status, and global QOL at baseline (N = 249) and 24-month follow-up (N = 217). Demographics and general health information were assessed at baseline. A panel analysis within a covariance modeling framework was used to analyze the data. Results  Analyses indicated that changes in physical activity over time were associated with residual changes in self-efficacy. Changes in self-efficacy were significantly associated with residual changes in physical and mental health status. Only changes in mental health status were significantly related to residual changes in global QOL. Conclusion  Results from this study support the role of self-efficacy in the relationship between physical activity and QOL. Future physical activity promotion programs should include strategies to enhance self-efficacy for physical activity to be most effective for this population.     

Levodopa: back to the future

The cognitive status of patients with Parkinson’s disease (PD) who developed pathological gambling (PG) during dopamine replacement therapy has been poorly explored. We compared clinical and cognitive features of 21 consecutive PD patients with active PG (PD–PG) versus 42 PD controls of similar disease duration without any impulse control disorder. All patients underwent full neuropsychological testing to evaluate executive and other frontal lobe-related functions, attention, learning and memory, language, visuospatial abilities and neuropsychiatric status [using Geriatric Depression Scale (GDS) and Neuropsychiatric Inventory (NPI)] as well as the South Oaks Gambling Screen Scale (SOGS). PD–PG were younger (60.4 vs. 64.9, p = 0.01) and more frequently of male gender (85 vs. 57%, p = 0.02). The two groups did not differ in medication dosages and kind of dopamine agonist. PD–PG had higher MMSE (29.1 vs. 27.4, p = 0.02) and performed better at Rey Auditory Verbal learning Test (45.9 vs. 40.4, p = 0.04), verbal phonemic fluencies (38.7 vs. 31.8, p = 0.02), verbal semantic fluencies (44.9 vs. 37.4, p = 0.01) and attentive matrices (47.6 vs. 43.5, p = 0.05) while the remaining cognitive performances were comparable to controls. Moreover, based on the NPI, PD–PG had higher aggressiveness, irritability, disinhibition and eating disorders than controls. In conclusion the occurrence of PG in our cohort of patients with PD was associated with preserved executive functions.     

Stigma in the Mental Health Workplace: Perceptions of Peer Employees and Clinicians

Informed by a structural theory of workplace discrimination, mental health system employees’ perceptions of mental health workplace stigma and discrimination against service recipients and peer employees were investigated. Fifty-one peer employees and 52 licensed behavioral health clinicians participated in an online survey. Independent variables were employee status (peer or clinician), gender, ethnicity, years of mental health employment, age, and workplace social inclusion of peer employees. Analysis of covariance on workplace discrimination against service recipients revealed that peer employees perceived more discrimination than clinicians and whites perceived more discrimination than employees of color (corrected model F = 9.743 [16, 87], P = .000, partial ŋ ² = .644). Analysis of covariance on workplace discrimination against peer employees revealed that peer employees perceived more discrimination than clinicians (F = 4.593, [6, 97], P = .000, partial ŋ ² = .223).     

Effects of Mindfulness-Based Stress Reduction Intervention on Psychological Well-being and Quality of Life: Is Increased Mindfulness Indeed the Mechanism?

Background  Although several studies have reported positive effects of mindfulness-based stress reduction (MBSR) intervention on psychological well-being, it is not known whether these effects are attributable to a change in mindfulness. Purpose  The aim of this study is to compare the effects of MBSR to a waiting-list control condition in a randomized controlled trial while examining potentially mediating effects of mindfulness. Methods  Forty women and 20 men from the community with symptoms of distress (mean age 43.6 years, SD = 10.1) were randomized into a group receiving MBSR or a waiting-list control group. Before and after the intervention period, questionnaires were completed on psychological well-being, quality of life, and mindfulness. Results  Repeated measures multiple analysis of variance (MANCOVAs) showed that, compared with the control group, the intervention resulted in significantly stronger reductions of perceived stress (p = 0.016) and vital exhaustion (p = 0.001) and stronger elevations of positive affect (p = 0.006), quality of life (p = .009), as well as mindfulness (p = 0.001). When mindfulness was included as a covariate in the MANCOVA, the group effects on perceived stress and quality of life were reduced to nonsignificance. Conclusion  Increased mindfulness may, at least partially, mediate the positive effects of mindfulness-based stress reduction intervention.     

Genetic Polymorphism of Glutathione <Emphasis Type="Italic">S</Emphasis>-transferase T1 (<Emphasis Type="Italic">GSTT1</Emphasis>) and QT-Interval in Schizophrenia Patients

Several antipsychotic agents are known to prolong the QT interval in a dose-dependent manner. The antipsychotic drugs are substrates of the phase I of biotransformation enzymes of cytochrome P450. In order to find the possible influence of polymorphism of GSTT1 (a member of class theta glutathione S-transferase) on rate-corrected QT interval (QTc) of schizophrenia patients, the present study was done. Forty-three schizophrenia in-patients participated in the study. The patients were diagnosed as chronic schizophrenia according to structured clinical interview using SCID-I (clinician version) to confirm and document DSM-IV diagnosis. Measurements of QT and RR intervals were recorded using a magnifying grid on lead II. The QTc was calculated according to Bazett’s formula. Polymerase chain reaction-based method was used in order to determine the GSTT1 genotypes. Based on the fitted model of multiple linear regression analysis, QTc decreased in persons with positive GSTT1 genotype in comparison with the null genotype (β = −0.328, t = −2.346, p = 0.024). Active genotype of GSTT1 decreased the QTc. Also, QTc was significantly associated with smoking status; it was decreased in smokers compared with nonsmokers (β = −0.372, t = −2.372, p = 0.014).     

Outcome of teenagers and young adults with ependymoma: The Royal Marsden experience

Background  The outcome and clinical characteristics of teenagers and young adults (TYA) with ependymoma have not been well documented. We report the Royal Marsden Hospital experience treating TYA with ependymoma. Materials and methods  Sixteen TYA were treated for ependymoma from 1971 to 2004 and are compared to 24 children (not infants) treated in the same period. Results  Twelve TYA (75%) received treatment in a neuro-oncology unit. Average time from symptoms to diagnosis was 183 days for TYA vs. 61.2 for children (p = 0.005). Two TYA (12.5% vs. 41.6% for children, p = 0.08) were enrolled in a clinical trial. Only 25% of TYA achieved gross total resection, all of them received radiotherapy and five of them received chemotherapy. There were five relapses; all of them were local. Five-year overall survival was 84.6% ± 10 for TYA vs. 78.1% ± 8.7 for children (p = 0.15), and 5-year progression-free survival was 66.6% ± 12.3 for TYA vs. 44.4% ± 10.3 for children (p = 0.08). Up to 56% of patients treated in the paediatric unit received psychosocial support vs. 42.9% of patients treated in the adult unit. Discussion  Ependymoma in adolescents and young adults is an infrequent entity, with perhaps better outcome compared to children. The extent of surgical resection as seen in children is an important prognostic factor. Providing adolescents with ependymoma the appropriate neuro-oncologic care, including access to multidisciplinary teams, full access to clinical trials and age-appropriate neuro-oncologic ancillary support services, remains a challenge.     

Circulating B7-H3(CD276) Elevations in Cerebrospinal Fluid and Plasma of Children with Bacterial Meningitis

The objective of this study was to analyze the clinical significance of cerebrospinal fluid (CSF) and plasma concentrations of B7-H3, tumor necrosis factor-alpha (TNF-α), gamma interferon (IFN-γ), and interleukin-17 (IL-17) in bacterial and aseptic meningitis in children. The participants were six children with bacterial meningitis, 16 with aseptic meningitis, and 12 control subjects. All participants were between 2 months and 12 years of age on admission. Cytokines determination was performed by enzyme-linked immunosorbent assay technique. CSF and plasma-circulating B7-H3 were significantly higher in the bacterial meningitis group as compared with the aseptic group (p = 0.001) and the control group (p = 0.000 and p = 0.001 respectively). However, CSF and plasma-circulating B7-H3 in aseptic meningitis were not significantly higher than control group (p = 0.071 and p = 0.72 respectively).CSF and plasma-circulating TNF-α were significantly higher in the bacterial meningitis group as compared with the aseptic group (p = 0.004 and p < 0.0001 respectively) and control group (p = 0.004 and p < 0.0001 respectively). Similarly, we did not observe significant elevated TNF-α levels in CSF and plasma in aseptic group compared with control group (p = 0.03 and p = 0.12 respectively). IFN-γ levels in CSF and plasma were undetectable in control group, and we did not find statistical significances in both of CSF and plasma between the elevated IFN-γ level in bacterial meningitis group and aseptic meningitis group(p = 0.055 and p = 0.095 respectively) CSF and plasma levels of IL-17 were undetectable in all subjects. There were correlations between B7-H3 and TNF-α, IFN-γ (r = 0.875, p = 0.000; r = −0.693, p = 0.000, respectively) in CSF in meningitis subjects. In plasma, levels of B7-H3 in bacterial meningitis on admission correlated positively with TNF-α (r = 0.968, p = 0.002), and white blood cell counts (r = 0.973, p = 0.001). Detectable CSF levels of B7-H3, TNF-α, and IFN-γ on admission were not associated significantly with any of CSF characteristics. Additionally, CSF and plasma levels of B7-H3 decreased remarkably after treatment. Altogether, our data indicated that circulating B7-H3 and TNF-α levels in the CSF and plasma were useful markers for distinguishing bacterial from aseptic meningitis, and Circulating B7-H3 was demonstrated to be useful in evaluating the intensity of the infectious inflammatory process in the central nervous system in children. An erratum to this article can be found at     

Association of NAD(P)H:Quinone Oxidoreductase 1 Polymorphism and Alzheimer’s Disease in Chinese

Several lines of evidence support a role of oxidative stress in the pathology of Alzheimer’s disease (AD). NAD(P)H:quinone oxidoreductase 1 (NQO1) catalyzes the two-electron reduction of quinones, preventing their participation in redox cycling and subsequent generation of reactive oxygen species. We examined association between the NQO1 C609T gene polymorphism and sporadic AD in a Chinese population comprising 311 AD patients and 330 controls. Our results showed a higher T-allele frequency in the AD cases compared with the controls. The difference was close to but did not reach statistically significant level [p = 0.059; odds ratio (OR) T versus C = 1.236; 95% confidence interval (95% CI), 0.992–1.540]. A significantly low C/C genotype frequency in the AD cases compared with the controls was detected (p = 0.025; OR C/C versus C/T + T/T = 0.674; 95% CI, 1.049–2.098) and APOE ε4 status analysis revealed significant difference in the APOE ε4 non-carriers (p = 0.036; OR = 0.633; 95% CI, 1.027–2.427). In the ≥65 years samples, significantly low C/C frequency in the AD cases in comparison with the controls was observed in the APOE ε4 non-carriers (p = 0.045; OR = 0.595; 95% CI, 1.010–2.794). These results indicated that the C/C genotype had a possible protective effect against AD development, and the T allele might be a weak risk factor for late onset AD. J-T Bian and H-L Zhao contributed equally to the work.     

Evaluation of Cerebellar and Cerebral Volume in Migraine with Aura: A Stereological Study

Migraine is associated with an increased risk of deep white matter lesions and subclinical posterior circulation infarcts. A significant association between deep white matter hyperintensities and cerebral atrophy is true for various neurological diseases; it was not specifically proven in migraine. The aim of this study was to evaluate the cerebellar and cerebral volume and volume ratios for cerebellum using the Cavalieri principle. We also aimed to examine whether migraine with aura causes cerebellar and cerebral atrophy. Twenty three right-handed patients with migraine with aura diagnosed by means of the International Headache Society criteria and 24 age-matched subjects whose only health problem was headache due to rhinosinusitis and tension type headache were included in the study. Measurements of the cerebellar and cerebral volumes as well as cerebellar/cerebral volume ratios were made using Cavalieri’s principle by utilizing the point-counting methods. There were no significant differences between the volumes of cerebrum, cerebellum, and the ratio of cerebellum to cerebrum for males (p = 0.05, p = 0.10, and p = 0.64, respectively) and for females (p = 0.18, p = 0.89, and p = 0.24, respectively). Our results suggest that patients with migraine with aura do not have a significant difference in cerebellar and cerebral volumes and cerebellar/cerebral volume ratios compared to the non-migraine group.     

<Emphasis Type="Italic">PEMT</Emphasis> G523A (V175M) Is Associated with Sporadic Alzheimer's Disease in a Chinese Population

There is evidence that increased concentrations of circulating homocysteine are associated with Alzheimer's disease (AD). Phosphatidylethanolamine N-methyltransferase (PEMT) is an important catalyst involved in the production of homocysteine. We investigated the association of a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic AD risk in a Han Chinese population that included 386 AD patients and 366 controls. PEMT G523A was genotyped by either sequencing or PCR-restriction fragment length polymorphism analysis. The plasma homocysteine concentrations of 210 subjects were determined by high-performance liquid chromatography. Significant higher frequency of the A allele was detected in AD cases than in controls (A vs. G, p = 0.007, OR = 1.482, 95% CI 1.114–1.972). After adjusting for gender, age/age at onset, and APOE ε4 status, logistic analysis showed rs7946 was associated with AD in a dominant model (AA + GA vs. GG, p = 0.007, OR = 1.596, 95% CI 1.138–2.240). When stratified by APOE ε4 status or gender, the significant difference was only observed in the APOE ε4 non-carriers and in the female subjects, respectively. We did not find a relationship of this polymorphism with plasma homocysteine levels. These results suggested that PEMT G523A is associated with AD and that the A allele is an APOE ε4-independent risk factor for AD among Han Chinese women.     

Examination of association of genes in the serotonin system to autism

Autism is characterized as one of the pervasive developmental disorders, a spectrum of often severe behavioral and cognitive disturbances of early development. The high heritability of autism has driven multiple efforts to identify genetic variation that increases autism susceptibility. Numerous studies have suggested that variation in peripheral and central metabolism of serotonin (5-hydroxytryptamine) may play a role in the pathophysiology of autism. We screened 403 autism families for 45 single nucleotide polymorphisms in ten serotonin pathway candidate genes. Although genome-wide linkage scans in autism have provided support for linkage to various loci located within the serotonin pathway, our study does not provide strong evidence for linkage to any specific gene within the pathway. The most significant association (p = 0.0002; p = 0.02 after correcting for multiple comparisons) was found at rs1150220 (HTR3A) located on chromosome 11 (∼113 Mb). To test specifically for multilocus effects, multifactor dimensionality reduction was employed, and a significant two-way interaction (p value = 0.01) was found between rs10830962, near MTNR1B (chromosome11; 92,338,075 bp), and rs1007631, near SLC7A5 (chromosome16; 86,413,596 bp). These data suggest that variation within genes on the serotonin pathway, particularly HTR3A, may have modest effects on autism risk. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Incidence of symptomatic retethering after surgical management of pediatric tethered cord syndrome with or without duraplasty

Background  Cord retethering and other postoperative complications can occur after the surgical untethering of a first-time symptomatic tethered cord. It is unclear if using duraplasty vs. primary dural closure in the initial operation is associated with decreased incidence of either immediate postoperative complications or subsequent symptomatic retethering. It is also unclear if different etiologies are associated with different outcomes after each method of closure. We reviewed our pediatric experience in first-time surgical untethering of symptomatic tethered cord syndrome (TCS) to identify the incidence of postoperative complications and symptomatic retethering after duraplasty vs. primary closure. Materials and methods  We retrospectively reviewed 110 consecutive pediatric (<18 years old) cases of first-time symptomatic spinal cord untethering at our institution over a 10-year period. Incidence of postoperative complications and symptomatic retethering were compared in cases with duraplasty vs. primary dural closure use. Results  Mean age was 5.7 ± 4.8 years old. “Complex” etiologies included lipomyelomeningocele or prior lipomyelomeningocele repair in 22 (20%) patients, prior myelomeningocele repair in 35 (32%), and concurrent lumbosacral lipoma in 18 (16%). “Noncomplex etiologies” included fatty filum in 26 (24%) and split cord malformation in five (4%). Seventy-five (68%) cases underwent primary dural closure vs. 35 (32%) with duraplasty. Twenty-nine (26%) patients experienced symptomatic retethering at a median [interquartile range (IQR)] of 30.5 [20.75–41.75] months postoperatively. There was no difference in incidence of postoperative cerebrospinal fluid leak, surgical site infection, or median [IQR] length of stay in patients receiving primary dural closure [4 (5%), 7 (9%), and 5 (4–6) days, respectively] vs. duraplasty [3 (9%), 3 (9%), and 6 [5–8] days, respectively], p > 0.05. Complex etiologies were more likely to retether than noncomplex etiologies after primary closure (33.6% vs. 6.6%, p = 0.05) but not after duraplasty (13.7% vs. 5.4%, p = 0.33). Duraplasty graft type (polytetrafluoroethylene vs. bovine pericardium) was not associated with pseudomeningocele or retethering. Conclusion  In our experience, the increased rate of symptomatic retethering observed with complex pediatric TCS (pTCS) etiologies after primary dural closures was not observed when duraplasty was instituted. Expansile duraplasty may be valuable specifically in the management of patient subgroups with complex pTCS etiologies.