Archive for June, 2010

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Open Journal Article: Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

2010 June 26

Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Ioriol and Teresa Esposito.

BMC Medical Genetics 2010, 11:103doi:10.1186/1471-2350-11-103
Published:     25 June 2010
Abstract (provisional):

Background

Glutamate is the principal excitatory neurotransmitter in the central nervous system which acts by the activation of either ionotropic (AMPA, NMDA and kainate receptors) or G-protein coupled metabotropic receptors. Glutamate is widely accepted to play a major role in the path physiology of migraine as implicated by data from animal and human studies. Genes involved in synthesis, metabolism and regulation of both glutamate and its receptors could be, therefore, considered as potential candidates for causing/predisposing to migraine when mutated.

Methods

The association of polymorphic variants of GRIA1-GRIA4 genes which encode for the four subunits (GluR1-GluR4) of the alpha-amino-3- hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor for glutamate was tested in migraineurs with and without aura (MA and MO) and healthy controls.

Results

Two variants in the regulative regions of GRIA1 (rs2195450) and GRIA3 (rs3761555) genes resulted strongly associated with MA (P=0.00002 and P=0.0001, respectively), after correction for multiple comparisons, but not associated with MO, suggesting their role in cortical spreading depression. Whereas the rs548294 variant in GRIA1 gene showed association primarily with MO phenotype, supporting the hypothesis that ma and MO phenotypes could be genetically related. These variants modify binding sites for transcription factors altering the expression of GRIA1 and GRIA3 genes in different conditions.

Conclusions

This study represents the first genetic evidence of a link between glutamate receptors and migraine.

You can read the full article here: http://www.biomedcentral.com/content/pdf/1471-2350-11-103.pdf

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News: UK Equalities and Human Rights Commission (EHRC) Begins Anti-Disability Harrassment Campaign

2010 June 16

This from the UK Benefits and Work organization, which helps people with incapacity or disability in seeking the benefits to which they are entitled. If you claim any incapacity or disability related benefit, then this information may be of interest to you:

“The Equalities and Human Rights Commission (EHRC) has begun an investigation into whether public bodies are fulfilling their legal obligations to prevent disabled people from being harassed.  If you think the DWP are failing in this duty – and actually making things much worse – email EHRC and tell them so, your details will not be made public.  Email:

“disabilityharassmentfi@equalityhumanrights.com”

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Open Journal Article: New uses of the Migraine Screen Questionnaire (MS-Q): validation in the Primary Care setting and ability to detect hidden migraine.

2010 June 9

Miguel J Lainez, Jesus Castillo, Manuel Dominguez, Gemma Palacios, Silvia Diaz and Javier Rejas.

BMC Neurology 2010, 10:39 doi:10.1186/1471-2377-10-39
Published:     8 June 2010

Abstract (provisional):

Background

PC plays an important role in early diagnosis of health disorders, particularly migraine, due to the financial impact of this disease for the society and its impact on patients’ quality of life. The aim of the study was to validate the self-administered MS-Q questionnaire for detection of hidden migraine in the field of primary care (PC), and to explore its use in this setting.

Methods

Cross-sectional, observational, and multicentre study in subjects above 18 years of age patients attending PC centers (regardless of the reason for consultation). A MS-Q score >4 was considered possible migraine. Level of agreement with IHS criteria clinical diagnosis (kappa coefficient), and instrument’s validity properties: sensitivity, specificity, positive (PPV) and negative (NPV) predictive values were determined. The ability of the instrument to identify possible new cases of migraine was calculated, as well as the ratio of hidden disease compared to the ratio obtained by IHS criteria.

Results

A total of 9,670 patients were included [48.9+17.2 years (mean +SD); 61.9% women], from 410 PC centers representative of the whole national territory. The clinical prevalence of migraine according to the IHS criteria was 24.7%, and 20.4% according to MS-Q: Kappa index of agreement 0.82 (p<0.05). MS-Q sensitivity was 0.82 (95% CI, 0.81 – 0.84), specificity 0.97 (95% CI, 0.98 – 0.99), PPV 0.95 (95% CI, 0.94 – 0.96), and NPV 0.94 (95% CI, 0.93 – 0.95). No statistically significant differences were found in the percentages of patients with de novo and hidden migraine identified by MS-Q and by IHS criteria: 5.7% vs. 6.1% and 26.6% vs. 24.1%, respectively.

Conclusions

The results of the present study confirm the usefulness of the MS-Q questionnaire for the early detection and assessment of migraine in PC settings, and its ability to detect hidden migraine.

You can read the full article here: http://www.biomedcentral.com/content/pdf/1471-2377-10-39.pdf

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Back Online

2010 June 7

I am now back online. But because of home pressures at the moment, I am unable to do little more than approve and reply to comments.