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The Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and spasticity. Patients also suffer from severe pruritus. The degradation of leukotriene (LT) B4 is one of the defective metabolic routes in SLS. Zileuton inhibits the synthesis of LTB4 and the cysteinyl leukotrienes. Five SLS patients were treated with zileuton for 3 months. Favourable effects were found on pruritus score (P=0.006), general well-being, and background activity of electroencephalographic studies. Neuropsychological test results did not change significantly. There was, however, a clinically important trend towards improvement in the speed of information processing. Results of cerebral MRI and proton magnetic resonance spectroscopy did not change during therapy. Urinary concentrations of LTB4 and ω-OH-LTB4 decreased significantly (P=0.02 and P=0.003 respectively), while their concentrations in CSF were normal at baseline and remained so after therapy. Conclusion: patients with Sjogren-Larsson syndrome might benefit from treatment with zileuton, especially with respect to the agonising pruritus. The findings reported here, point to a crucial role for leukotriene B4 in the pathogenesis of pruritus.

Proton MR spectra of a healthy human prostatic gland show a major signal for citrate appearing as an AB-type multiplet. After application of multipulse localization sequences, the outer lines of this multiplet often appear with dispersion line shapes disturbing the baseline and interfering with proper quantification of citrate itself and other nearby resonances. Based upon analytical descriptions of the time evaluation of an AB spin system during a point resolved spectroscopy (PRESS) pulse sequence (90x-tau 1-180y-tau 2-180y-t), equations were derived representing the intensity of the absorption and dispersion line shape of the outer lines of the citrate multiplet at the top of echo t = tau 2-tau 1. From these equations, it was calculated that the outer lines of citrate can be removed almost completely using a PRESS pulse sequence with tau 1 = 11 ms and tau 2 = 60 ms. The theoretical description was confirmed by the almost complete disappearance of the two outer citrate resonances in in vitro and in vivo proton MR spectra acquired with this pulse sequence timing.

Correction to: European Journal of Human Genetics advance online publication, 12 December 2012; doi: 10.1038/ejhg.2012.256 Since the publication of this article the authors have noticed that Judith Fischer’s affiliation was incorrect. The HTML and PDF have been rectified and now carry the correct affiliation.

Contains fulltext : 23768___.PDF (Publisher’s version ) (Open Access)

Since glucose is the main source of energy for the brain, understanding the kinetics of brain glucose uptake under hypoglycemic conditions is highly important. Under normo- and hyperglycemic conditions the relationship between plasma and brain glucose levels is linear and behaves according to reversible Michaelis-Menten (MM) kinetics. In the present study brain glucose levels during hypoglycemia were measured by 13C magnetic resonance spectroscopy (MRS).