Similarly, when randomly analysing fibres from sections containing revertant fibres, either an increased average intensity, or higher standard errors of the mean was seen, implying that revertant fibre(s) had been included in the analysis (e.g. sample 5 in Figure 3). As with any semiquantitative technique, reliable internal controls and standards are vital. We chose β-spectrin as our internal control to account for differences in the integrity of the fibres. We have previously shown that spectrin is an ideal marker of sarcolemmal integrity as it is not a protein of the dystrophin complex [25] and is not affected by dystrophin deficiency,

except on necrotic and regenerating fibres [26]. All measurements were normalized with their corresponding serial section labelled for β-spectrin. All measurements were expressed relative to the normal dystrophin in standard controls in each particular Decitabine manufacturer experiment and should not be considered absolute values, as we confirmed that there is a certain degree of variability even between controls (Figure 4). We believe that this technique

will be an additional useful tool to the techniques currently in place in diagnosis of neuromuscular diseases in which the study of localization and amount of protein is paramount. We also propose this technique as Rapamycin chemical structure an objective method to quantify protein expression when assessing efficacy of experimental therapies aimed at restoring protein expression, such as in the recent trials of antisense oligonucleotides in DMD [27,28]. The Authors wish to thank the Department 3-mercaptopyruvate sulfurtransferase of Health (UK) for the funding of this study and the Muscular Dystrophy Campaign Centre grant. The Biobank of the MRC Neuromuscular Translational Research Centre is also gratefully

acknowledged. J. E. M. was funded by an MRC Collaborative Career Development fellowship in stem cell research and is currently funded by a Wellcome Trust University award. S. C. B. is funded by the AFM and MDA. The authors also wish to thank Mr David Hunt, Mr Jan Lehowsky, Dr Geraldine Edge, Jihee Kim and Darren Chambers for their technical expertise. No competing financial interests exist. “
“Papillary tumor of the pineal region (PTPR) is a recently recognized and rare pineal tumor, presenting as a solitary mass with or without hydrocephalus. Here, we report a case of c-Kit expressing PTPR with leptomeningeal seeding. A 39-year-old woman presented with a 1-month history of headache and decreased visual acuity. MRI showed a large, 4 cm-diameter solid and cystic enhancing mass at the pineal region with associated ventriculomegaly. Smaller nodular lesions were also found at the pituitary stalk and bilateral internal acoustic canal (IAC). The leptomeninges were noted to be enhanced with gadolinium.