Greig cephalopolysyndactyly (GCPS) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, macrocephaly and hypertelorism. GCPS is known to be caused by mutations in the transcription factor GLI3 gene (7p13) which results in functional haploinsufficiency of this gene. The present study reports a large multiplex family hav...

We have recently generated a novel medulloblastoma (MB) mouse model with activation of the Shh pathway and lacking the MB suppressor Tis21 (Patched1+/-/Tis21KO ). Its main phenotype is a defect of migration of the cerebellar granule precursor cells (GCPs). By genomic analysis of GCPs in vivo, we identified as drug target and major responsible of this defect the down-regulation of the promigrato...

There have been several reports of patients with chronic pain (CP) and dissociative or multiple personality disorder (MPD). This report describes a patient with MPD in whom 4 different personalities reported different perceptions of pain. Psychological testing was used to confirm the diagnosis of MPD. Visual analogue scales (VAS) and the McGill Pain Questionnaire (MPQ) were used on each of the ...

Objective To evaluate the feasibility of an individualized interdisciplinary chronic pain care plan as an intervention to reduce emergency department (ED) visits and improve clinical outcomes among patients who frequented the ED with concerns related to chronic pain. Methods A prospective cohort design was used in an urban tertiary care hospital. As a pilot program, fourteen patients with chr...

BACKGROUND There is no standard method of measuring change in chronic pain severity. Clinical trials commonly use serial assessment scales, completed at two points in time, to estimate change in pain severity, while clinicians usually ask patients to make a retrospective assessment of change. How the two methods compare is not known. AIM To assess different methods of measuring change in chro...

OBJECTIVES The objectives of this study were the following: to determine if fatigue is present in chronic low back pain (LBP) and chronic neck pain patients to a greater extent than in controls (nonpatients); to determine which variables are associated with the presence of fatigue; and to determine which of the above chronic pain patient (CPP) groups is more fatigued. To the authors' knowledge,...

CONTEXT Although many previous studies have examined the preference of patients for different pain measurement scales, preference for anchor descriptors has not been thoroughly discussed. OBJECTIVES To examine (1) the preferred end-phrases used in the VAS as anchor labels for Japanese patients with chronic pain, and (2) whether the preference differs according to factors such as age, sex, edu...

Abstract Background Pain is often measured by asking people to rate their pain intensity at its worst, on average, and least, for the last 7 days using numeric rating scales. The three ratings are summed produce a composite measure. validity reliability of this measure has not been examined modern psychometric methods in any population. We use with professional musicians, university music scien...

BACKGROUND Chronic low-back pain is a widespread condition whose significance is overlooked. Previous studies have analyzed and evaluated the medical costs and physical symptoms of chronic low-back pain; however, few have looked beyond these factors. The purpose of this study was to analyze and evaluate the personal and psychosocial costs of chronic low-back pain. METHODS To measure the vario...