Movement disorders in women: A review

The field of women's health developed based on the recognition that there are important sex‐based differences regarding several aspects of medical illnesses. We performed a literature review to obtain information about differences between women and men for neurological movement disorders. We identified important differences in prevalence, genetics, clinical expression, course, and treatment responses. In addition, we found that female life events, including menstruation, pregnancy, breast feeding, menopause, and medications prescribed to women (such as oral contraceptives and hormone‐replacement therapy), have significant implications for women with movement disorders. Understanding this biological sex‐specific information can help improve the quality and individualization of care for women with movement disorders and may provide insights into neurobiological mechanisms. © 2013 International Parkinson and Movement Disorder Society     

The screening of Alzheimer’s patients with CSF biomarkers,modulates the distribution of APOE genotype: impact on clinical trials

Polymorphism of the apolipoprotein E gene (APOE) plays a role in the level of neuropathological lesions and in drug response in Alzheimer’s disease (AD). The aim of this study was to investigate whether the selection of AD patients based on cerebrospinal fluid (CSF) biomarkers assessment may be biased by their APOE distribution. We studied the relationships between APOE genotype and CSF biomarkers levels in a total of 432 patients (AD, n = 244; non-AD, n = 188) explored for cognitive disorders. We studied the distribution of APOE genotypes among AD patient subgroups selected by various cut-offs of CSF biomarkers. Strategies of screening based on CSF Aβ1–42 lead to overselection of ε4/ε4 patients in the AD group. Screening based on tau levels did not change Apoe4 distribution in the AD group. CSF Aβ1–42 discriminated better AD patients with at least one ε4 than AD patients with no ε4. A strong allele-effect relationship was detected between APOE genotype and CSF amyloid-β (Aβ1–42) in AD patients. Selecting AD patients on CSF amyloid levels only may create an overselection of ε4/ε4 carriers, and might potentially bias the population of patients included in clinical trial studies.     

Collapsin response‐mediator protein 5 (CRMP5) phosphorylation at threonine 516 regulates neurite outgrowth inhibition

The collapsin response‐mediator proteins (CRMPs) are multifunctional proteins highly expressed during brain development but down‐regulated in the adult brain. They are involved in axon guidance and neurite outgrowth signalling. Among these, the intensively studied CRMP2 has been identified as an important actor in axon outgrowth, this activity being correlated with the reorganisation of cytoskeletal proteins via the phosphorylation state of CRMP2. Another member, CRMP5, restricts the growth‐promotional effects of CRMP2 by inhibiting dendrite outgrowth at early developmental stages. This inhibition occurs when CRMP5 binds to tubulin and the microtubule‐associated protein MAP2, but the role of CRMP5 phosphorylation is still unknown. Here, we have studied the role of CRMP5 phosphorylation by mutational analysis. Using non‐phosphorylatable truncated constructs of CRMP5 we have demonstrated that, among the four previously identified CRMP5 phosphorylation sites (T509, T514, T516 and S534), only the phosphorylation at T516 residue was needed for neurite outgrowth inhibition in PC12 cells and in cultured C57BL/6J mouse hippocampal neurons. Indeed, the expression of the CRMP5 non‐phosphorylated form induced a loss of function of CRMP5 and the mutant mimicking the phosphorylated form induced the growth inhibition function seen in wildtype CRMP5. The T516 phosphorylation was achieved by the glycogen synthase kinase‐3β (GSK‐3β), which can phosphorylate the wildtype protein but not the non‐phosphorylatable mutant. Furthermore, we have shown that T516 phosphorylation is essential for the tubulin‐binding property of CRMP5. Therefore, CRMP5‐induced growth inhibition is dependent on T516 phosphorylation through the GSK‐3β pathway. The findings provide new insights into the mechanisms underlying neurite outgrowth.     

The role of emotion identification skill in the formation of male and female friendships: A longitudinal study

The present study explored the relationship between emotion identification skill (EIS) and friendships in adolescence. Students from five Australian high schools completed questionnaires annually from Grade 8 to Grade 12 including subjective measures of EIS and a peer-based objective measure of social functioning (e.g., friendship nominations). The total sample of participants was 795 (406 males; 389 females) with 468 (225 males; 243 females) completing questionnaires in Grade 12. EIS in early adolescence was predictive of friendships for females in late adolescence. Specifically, girls starting out with low EIS in Grade 8 tended to have fewer female friendships and more male friendships in Grade 12. There were no effects for males. Lower initial EIS was associated with significant improvements in awareness over time, but these improvements had no effect on friendships in Grade 12. The EIS that girls enter high school with may influence their friendship composition into late adolescence.     

Does anxiety predict the use of urgent care by people with long term conditions? A systematic review with meta-analysis

Objective

The role of anxiety in the use of urgent care in people with long term conditions is not fully understood. A systematic review was conducted with meta-analysis to examine the relationship between anxiety and future use of urgent healthcare among individuals with one of four long term conditions: diabetes; coronary heart disease, chronic obstructive pulmonary disease and asthma.

Methods

Electronic searches of MEDLINE, EMBASE, PSYCINFO, CINAHL, the British Nursing Library and the Cochrane Library were conducted These searches were supplemented by hand-searching bibliographies, citation tracing eligible studies and asking experts within the field about relevant studies. Studies were eligible for inclusion if they: a) used a standardised measure of anxiety, b) used prospective cohort design, c) included adult patients diagnosed with coronary heart disease (CHD), asthma, diabetes or chronic obstructive pulmonary disease (COPD), d) assessed urgent healthcare use prospectively. Data regarding participants, methodology, and association between anxiety and urgent care use was extracted from studies eligible for inclusion. Odds ratios were calculated for each study and pooled using random effects models.

Results

8 independent studies were identified for inclusion in the meta-analysis, with a total of 28,823 individual patients. Pooled effects indicate that anxiety is not associated with an increase in the use of urgent care (OR = 1.078, p = 0.476), regardless of the type of service, or type of medical condition.

Conclusions

Anxiety is not associated with increased use of urgent care. This finding is in contrast to similar studies which have investigated the role of depression as a risk factor for use of urgent care.     

Measuring insight through patient self-report: An in-depth analysis of the factor structure of the Birchwood Insight Scale

Little research has focused on item analysis and factor structure of the most commonly used measures of insight. We examined the factorial structure of the Birchwood Insight Scale (BIS), a brief, easy-to-administer, self-report measure. We studied the BIS in 327 first-episode psychosis patients, including a test sample (n=163) and a validation sample (n=164). We then used data from 100 patients with chronic serious mental illnesses as a second, external validation sample. Exploratory factor analysis was conducted with the test subsample, and confirmatory factor analyses with the two validation samples. Confirmatory factor analyses (in both the first-episode psychosis validation sample and the chronic serious mental illness sample) indicated that a single-factor solution, with seven items loading on a single factor—with item 1 (“Some of your symptoms are made by your mind”) eliminated—was the best-fitting model. Seven of the eight original BIS items loading on a single factor fit the data well in these samples. Researchers using this efficient measure of patient-reported insight should assess the item distributions and factor structure of the BIS in their samples, and potentially consider eliminating item 1.     

Isolated Tumor Cells in Sentinel Lymph Nodes of Invasive Breast Cancer: Cell Displacement or Metastasis?

The goal of this study was to determine whether the presence of isolated tumoral cells (ITCs) in sentinel lymph nodes (SLNs) after core needle biopsy (CNB) is related to the time interval between CNB and surgery and to histopathologic features of invasive breast cancer. Data from 633 consecutive patients with no micrometastasis or metastasis on both frozen sections and definitive pathologic examination of SLNs were retrieved from a prospective data base. No association was found between ITCs and the time interval between CNB and SLNB. The association was significant with tumor size, the tumor lymphovascular invasion (LVI) and the histologic type of the tumor. This study adds supplementary data to the association between tumoral LVI and ITCs in SLNs, The time interval between CNB procedure and SLNB was not related to affect presence of ITCs, which might not suggest the iatrogenic origin of these cells.     

A neurosurgical phantom-based training system with ultrasound simulation

Background

Brain tumor surgeries are associated with a high technical and personal effort. The required interactions between the surgeon and the technical components, such as neuronavigation, surgical instruments and intraoperative imaging, are complex and demand innovative training solutions and standardized evaluation methods. Phantom-based training systems could be useful in complementing the existing surgical education and training.

Methods

A prototype of a phantom-based training system was developed, intended for standardized training of important aspects of brain tumor surgery based on real patient data. The head phantom consists of a three-part construction that includes a reusable base and adapter, as well as a changeable module for single use. Training covers surgical planning of the optimal access path, the setup of the navigation system including the registration of the head phantom, as well as the navigated craniotomy with real instruments. Tracked instruments during the simulation and predefined access paths constitute the basis for the essential objective training feedback.

Results

The prototype was evaluated in a pilot study by assistant physicians at different education levels. They performed a complete simulation and a final assessment using an evaluation questionnaire. The analysis of the questionnaire showed the evaluation result as “good” for the phantom construction and the used materials. The learning effect concerning the navigated planning was evaluated as “very good”, as well as having the effect of increasing safety for the surgeon before planning and conducting craniotomies independently on patients.

Conclusions

The training system represents a promising approach for the future training of neurosurgeons. It aims to improve surgical skill training by creating a more realistic simulation in a non-risk environment. Hence, it could help to bridge the gap between theoretical and practical training with the potential to benefit both physicians and patients.     

Development of anonymous nuclear markers from Illumina paired-end data for Seychelles caecilian amphibians (Gymnophiona: Indotyphlidae)

Anonymous nuclear markers were developed for Seychelles caecilian amphibians. Using a previously published bioinformatics pipeline (developed for Roche 454 data), 36 candidate anonymous nuclear loci (ANL) of at least 180 bp length were identified from Illumina MiSeq next generation sequencing data for five Seychelles species. We designed primer pairs for the 36 candidate ANL and tested these by PCR and Sanger sequencing. Seven ANL amplified and sequenced well for at least five of the six nominal Seychelles caecilian species (in three genera), and represent potentially useful markers for systematics and conservation.