BACKGROUND AND PURPOSE Sjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to characterize the nature of the cerebral involvement in SLS. METHODS MR imaging was performed in 18 patients (aged 5 months to 45 years) and repeated in 14. Single-voxel proton MR spectra were acquired from cerebral white matter and gr...

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Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic structure of human FALDH, the first model of a membrane-associated aldehyde dehydrogenase. The dimeric FA...

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that reveal...

Sjögren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by a deficiency of fatty aldehyde dehydrogenase. The aim of this study was to examine all 34 Swedish patients with SLS, emphasizing skin symptoms, dermatological treatment, and neurological symptoms (evaluated in some cases for more than 25...

However, some of these patients develop SCARs related to sorafenib, such as Drug Reaction with Eosynophilia and Systemic Symptoms (DRESS), SJS or AGEP.5,6,8,9 To our knowledge, only 2 more cases of sorafenib-induced acute exanthematous pustulosis have been published, being one of them an acute localized exanthematous pustulosis (ALEP) and the other one a complete AGEP.5,6 The main features of t...

A polynomial structural errors in variables model with normal underlying distributions is investigated An asymptotic covariance matrix of the SLS estimator is computed includ ing the correcting terms which appear because in the score function the sample mean and the sample variance are plugged in The ALS estimator is also considered which does not need any asumption on the regressor distributio...

Polycystic ovary syndrome is a very common disease affecting 6.5% of women. It is frequently associated with obesity with the link between the two disorders being insulin resistance. From morbidly obese women submitted to surgical treatment of obesity, we obtain intra-abdominal adipose tissue samples in order to compare protein patterns between women with and without polycystic ovary syndrome b...

The internal and often iconic structure of the signs in a signed language (SL)—the rough equivalent of words in spoken languages—present interesting challenges for linguistic theory. Specifically, lexicalisation in SLs occurs when a signed unit acquires a clearly identifiable and replicable citation form which is regularly and strongly associated with a meaning. The meaning is unpredictable and...