CHQ Child Health Questionnaire FPS-R Faces Pain Scale-Revised AIM The aim of this study was to explore the prevalence, predictors, severity, and impact of recurrent musculoskeletal pain in children and adolescents with cerebral palsy (CP).METHOD One hundred and fifty-three participants (81 males, 72 females) aged 8 to 18 years were assessed by clinical examination, interview, and questionnaires. CP type distribution was 38% unilateral spastic, 55% bilateral spastic, 6% dyskinetic, and 1% ataxic. Gross Motor Function Classification System (GMFCS) levels were as follows: level I, 54; level II, 56; level III,20; level IV,8; and level V,15. Sixty-four children and 89 parents recorded pain on the Child Health Questionnaire, 56 children and 85 parents indicated impact of pain on 0 to 10 numeric rating scales, and 72 children indicated pain intensity on the Faces Pain Scale-Revised.RESULTS Ninety-five (62%) children across all GMFCS levels experienced recurrent musculoskeletal pain. Age above 14 years was the only significant predictor (OR 2.90, 95% CI 1.22-7.80, p=0.02, adjusted for sex, CP type, gross motor function and mother's education). Children reported recurrent musculoskeletal pain to be moderate. Parents reported pain to be more severe and with higher impact on sleep than their children did. Children and parents reported similar impact of pain on general activity and walking.INTERPRETATION Recurrent musculoskeletal pain is the dominating pain problem in children and adolescents with CP. Monitoring of musculoskeletal pain should be part of the medical follow-up across the whole range of motor impairment.Musculoskeletal pain is common in children with cerebral palsy (CP) and is also associated with lower quality of life in all domains.1 The problem increases with age. 2 Common body regions involved are the limbs, back, and neck. 3,4 Recognition is important because untreated or undertreated nociceptive pain in childhood may predispose to persisting pain in adulthood through conditioning 2 or through the generation of neuropathic pain, as stimulation of nociceptors may result in changes in the nervous system leading to chronic pain states. 4 The International Association for the Study of Pain defines chronic pain as 'an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage'. 5 The term musculoskeletal pain reflects actual or potential damage of musculoskeletal tissue, but it is an ambiguous concept beyond the anatomical specification, and a diagnosis of musculoskeletal pain has to rely on clinical parameters. In CP, muscle overuse, strain caused by involuntary movements, immobilization, and atypical joint compression from the imbalance of muscle activation across joints are all recognized as potential aetiological factors of nociceptive pain.6 Pain may also be related to health care procedures such as assisted stretching, needle injections, or range of motion manipulation. 7The subjective perception of the individual is the other key ...

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res 62:359-362 Zink D, Mayr C, Janz C, Wiesmü ller L (2002) Association of p53 and MSH2 with recombinative repair complexes during S phase. Oncogene 21:4788-4800

Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit accumulation of an unusual branched-chain fatty acid, phytanic acid (3,7,11,15-tetramethylhexadecanoic acid), in blood and tissues. Biochemically, the disease is caused by the deficiency of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal protein catalyzing the first step in the alpha-oxidation of phytanic acid. We have purified PhyH from rat-liver peroxisomes and determined the N-terminal amino-acid sequence, as well as an additional internal amino-acid sequence obtained after Lys-C digestion of the purified protein. A search of the EST database with these partial amino-acid sequences led to the identification of the full-length human cDNA sequence encoding PhyH: the open reading frame encodes a 41.2-kD protein of 338 amino acids, which contains a cleavable peroxisomal targeting signal type 2 (PTS2). Sequence analysis of PHYH fibroblast cDNA from five patients with Refsum disease revealed distinct mutations, including a one-nucleotide deletion, a 111-nucleotide deletion and a point mutation. This analysis confirms our finding that Refsum disease is caused by a deficiency of PhyH.

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