Peptidoglycan recognition protein genes and risk of Parkinson's disease

Increased gut permeability, inflammation, and colonic α‐synuclein pathology are present in early Parkinson's disease (PD) and have been proposed to contribute to PD pathogenesis. Peptidoglycan is a structural component of the bacterial cell wall. Peptidoglycan recognition proteins (PGRPs) maintain healthy gut microbial flora by regulating the immune response to both commensal and harmful bacteria. We tested the hypothesis that variants in genes that encode PGRPs are associated with PD risk. Participants in two independent case‐control studies were genotyped for 30 single‐nucleotide polymorphisms (SNPs) in the four PGLYRP genes. Using logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) adjusted for potential confounding variables, we conducted analyses in each study, separately and pooled. One SNP failed the assay, and three had little to no variation. The ORs were similar in both study populations. In pooled analyses, three of seven PGLYRP2 SNPs (rs3813135, rs733731, rs892145), one of five PGLYRP3 SNPs (rs2987763), and six of nine PGLYRP4 SNPs (rs10888557, rs12063091, rs3006440, rs3006448, rs3006458, and rs3014864) were significantly associated with PD risk. Association was strongest for PGLYRP4 5'untranslated region (UTR) SNP rs10888557 (GG reference, CG OR 0.6 [95%CI 0.4‐0.9], CC OR 0.15 [95%CI 0.04‐0.6]; log‐additive P‐trend, 0.0004). Common variants in PGLYRP genes are associated with PD risk in two independent studies. These results require replication, but they are consistent with hypotheses of a causative role for the gut microbiota and gastrointestinal immune response in PD. © 2014 International Parkinson and Movement Disorder Society     

Living with dementia: A systematic review of the influence of relationship factors

Introduction: Many people with dementia are enabled to live at home by the support of a close family member, who takes on the role of a carer. Considerable research has investigated the impact of caring for a person who has dementia. In early research, there was a tendency to overlook the experiences of the person with dementia and, in particular, the relationship between the two persons. This has now been corrected by a growing body of research on the relationships between people with dementia and the family members who care for them.

Method: Peer-reviewed publications on the influence of relationship factors in dementia caregiving were reviewed.

Results: The impact of dementia on the quality of relationships is examined, together with the impact of relationship quality on the experience of living with dementia. The different forms that relationships can take in the context of dementia are considered, and an integrative theoretical framework is proposed.

Discussion: A neglect of direct evidence from the person with dementia is identified, and possible ways of combating this are considered. Clinical implications are drawn with regard to supporting the carer, the person with dementia, and their relationship.     

Preoperative appearance of facial muscles on magnetic resonance predicts final facial function after acoustic neuroma surgery.

OBJECTIVE: Several previous studies have shown that muscle appearance on magnetic resonance is a sensitive indicator of muscle denervation. Previous attempts at determining preoperative indicators of final facial function after acoustic neuroma removal has been mostly unsuccessful. The goal of this study was to determine if the appearance of the facial muscles on preoperative imaging is predictive of final facial function after surgical removal of vestibular schwannomas. STUDY DESIGN: We conducted a retrospective chart and magnetic resonance review. SETTING: This study was conducted at a tertiary referral center. PATIENTS: We included all patients who underwent vestibular schwannoma removal between January 1, 1997, and December 31, 2001, with available preoperative magnetic resonance images and a minimum of 12 months follow up. INTERVENTIONS: We used translabyrinthine, middle fossa, and suboccipital approaches for tumor removal. A neuroradiologist, blinded to preoperative or final facial function after tumor removal, retrospectively reviewed preoperative magnetic resonance images. MAIN OUTCOMES MEASURES: Facial muscles were evaluated on magnetic resonance and classified as symmetric or asymmetric. Facial function was graded using the House-Brackmann scale. Preoperative facial function was noted on the preoperative physical examination. Final function was determined at least 12 months postoperatively. RESULTS: A total of 247 patients underwent tumor removal during the study period. One hundred thirty-two patients had adequate preoperative magnetic resonance images. Patients with preoperative facial muscle asymmetry seen on preoperative magnetic resonance indicating muscle atrophy had significantly worse final facial function, regardless of tumor size. CONCLUSION: The preoperative appearance of facial muscles provides valuable insight into the physiology of the facial nerve in the presence of vestibular schwannomas. Patients with pre-operative facial muscle symmetry have significantly better facial function than those with atrophy.     

Kawasaki Disease update

Kawasaki Disease is rapidly becoming the most common cause of acquired heart disease in children in both the developed and developing world. Its etiology remains a mystery but important progress has been made in characterizing the features of the arterial wall and myocardial pathology and long-term clinical consequences. New treatments aimed at modifying the host immune response are currently under study. The genetic influence on susceptibility and disease outcome is an area of active research.     

Accuracy of the MMPI-2 Computerized Minnesota Report in Identifying Fake-Good and Fake-Bad Response Sets

The present simulation study was designed to evaluate the accuracy of the computerized Minnesota Report in identifying faked response sets on the Minnesota Multiphasic Personality Inventory (MMPI-2). The Minnesota Report is being increasingly relied upon in forensic neuropsychological assessments to assist in identifying malingering. Three groups of 18 students were given different sets of instructions: fake-good, fake-bad, and the standard instructions. Of those participants instructed to fake-good, the classification rate was 94% with only one participant misclassified as providing a “normal” profile. Of those participants instructed to fake-bad, 100% were correctly classified by the Minnesota Report. Of those who completed the MMPI-2 under standard instructions 78% were classified as having “normal” profiles, whereas 22% were classified as faking-good. The value of the Minnesota Report in identifying fake-bad response sets was amply demonstrated, and it is such performances that may be helpful in detecting malingering in forensic evaluations.     

Experiencing vaginismus–sufferers beliefs about causes and effects

The present study examined the experience of vaginismus in 89 sufferers and ex-sufferers using quantitative and qualitative methodologies. The results provide insights into the effects of vaginismus on the sufferers' self perception and on their relationships with important others. It is suggested that vaginismus should not be regarded as a psychosexual problem but as a psychosocial experience in which defences have been created to protect the self, and that the vaginal spasm is only one of the many effects of this defence.