Clinical and biochemical changes in Egyptian patients with Sjogren Larsson syndrome

The Sjogren-Larsson syndrome [SLS] is an inborn error of lipid metabolism, characterized clinically by congenital ichthyosis, mental retardation and spasticity. It is a rare autosomal recessive condition resulting from fatty aldehyde dehydrogenase deficiency, which is involved in lipid synthesis and catabolism. This study included nine patients with SJL, their ages ranged from 2.6 to 12 years [6.4 +/- 2.2]. All the patients were subjected to full clinical examination and biochemical investigations including the estimation of the level of fatty aldehyde dehydrogenase in leucocytes and total cholesterol, triglycerides, low-density lipoproteins [LDL], high-density lipoproteins [HDL], low-density lipoprotein oxidizability and 5-lipooxygenase in plasma. Neurophysiologic examinations including magnetic resonance image [MRI], electro encephalogram [EEG], and visual evoked potential [VEP] were done. The study aims to outline the clinical signs and symptoms together with the biochemical characteristics of SLS. Our findings provide evidence for defective 5-lipoxygenase degradation, fatty aldehyde dehydrogenase deficiency, while lipid profile and low density lipoproteins oxidizability were significantly increased in SLS patients. These findings suggest that fatty aldehyde dehydrogenase plays a major role in detoxification and in the turn over of fatty aldehydes and lipids and offer non-invasive diagnostic tools. Moreover, they provide a powerful rationale for therapeutic trials aimed at inhibiting 5-lipoxygenase synthesis

Some markers of oxidative stress and antioxidant status in patients with psoriasis

Psoriasis is a common, chronic inflammatory skin disease with unknown etiology. It has been suggested that increased reactive oxygen species [ROS] production and deficient function of antioxidant systems activities may be involved in the pathogenesis of the disease. The goal of this study was to determine the role of lipid peroxidation, assess the antioxidant activity in psoriasis patients and to correlate it with severity of the disease. In this study malondialdehyde [MDA], super oxide dismutase [SOD] enzyme activity, and total antioxidant oxidative capacity [AOC%], Vit E and beta carotene levels in 24 patients with psoriasis were investigated and compared with those of 12 control subjects. Clinical severity of the disease was determined according to the Psoriasis Area Severity Index [PASI] scores in patients. Our results showed that MDA as a marker of oxidative stress was significantly higher in psoriatic patients, while AOC%, SOD, Vit E and beta carotene as markers of antioxidant status were significantly lower in psoriatic patients compared to control. However, there was no correlation between PASI score and plasma AOC% and erythrocyte SOD levels. In conclusion our results may provide some evidence for the role of ROS production associated with decrease antioxidant potential in psoriasis