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Cornelia de Lange syndrome is a rare congenital disorder. Symptoms include a characteristic facial structure, pre- and post-natal growth deficiency, hypertrichosis, and visceral and cardiovascular anomalies. Behavioural problems and moderate to severe mental retardation are also present. In this paper, we report a mild case of Cornelia de Lange syndrome. The neuropsychological rehabilitation of this patient is also described. It was structured on the patient's specific areas of strength and weakness in order to facilitate the development of adaptive cognitive abilities. To maximise the learning potential of these children, we recommend specific interventions with a multidimensional neuropsychological approach, which considers developmental abilities and disabilities as related to the global reality of the child. [ABSTRACT FROM AUTHOR]

The wheat stem rust fungus, Puccinia graminis f. sp. tritici (Pgt), race TTKSK and related races pose a serious threat to world wheat production. Knowing the effectiveness of wheat stem rust resistance (Sr) genes against Pgt race TTKSK is fundamental in mitigating this threat through resistance breeding. Sr15 was previously identified as being ineffective against Pgt race TTKSK. Here, multirace disease phenotyping data, linkage analyses, allelism testing and haplotype analyses are presented to support the conclusion that Sr15 is effective against Pgt race TTKSK. Resistance to race TTKSK was mapped to Sr15 in a biparental population. Thirty‐two accessions with Sr15 displayed seedling resistance phenotypes against race TTKSK. However, these accessions were susceptible as seedlings at high temperatures (22–25 °C), consistent with previous reports that the interaction between avirulent Pgt isolates and Sr15 is temperature‐sensitive. Markers STS638, wri4 and KASP_IWB30995 were found to predict the presence of Sr15, suggesting the utility of these assays for marker‐assisted selection in breeding programmes. The effectiveness of Sr15 to specific Pgt races and temperatures makes it a less‐desirable TTKSK‐effective gene. Wheat lines assayed as resistant to race TTKSK at the seedling stage may possess Sr15 and breeders should be aware of the limitations of Sr15 for conferring stem rust resistance. [ABSTRACT FROM AUTHOR]

Abstract Background Iron overload has been reported in alcoholic liver cirrhosis but it remains to be established whether iron is involved in inducing oxidative damage to erythrocytes in alcoholic cirrhosis. The aim of this study was to assess oxidative damage and red cell indicators of antioxidant defences in alcoholics with mild-to-severe liver cirrhosis, taking into account the iron status. Materials and methods Twenty-nine patients with alcoholic liver cirrhosis (AC) and 27 with nonalcoholic cirrhosis (NAC) were studied. Serum lipid peroxides (LPO) were assayed by a colourimetric method. Serum-free malonyldialdehyde (MDA) was assayed by selected ion monitoring in positive chemical ionization; serum 4-hydroxy-2(E)-nonenal (4-HNE) was determined by a colorimetric method. Reduced (GSH) and oxidized glutathione (GSSG), adenine and pyridine cofactors were assayed in whole blood extracts by HPLC. Hexose-monophosphate shunt (HMPS), glycolytic pathway (EMP) and antioxidant enzyme activities were determined by standard methods. Iron status was evaluated by standard clinical chemistry and by histological grading of liver iron. Nontransferrin-bound iron (NTBI) was measured in serum by HPLC. Results GSH progressively decreased with increasing severity of liver involvement in AC and NAC. MDA, 4-HNE and NTBI were significantly higher in AC serum. Stimulation of red cell HMPS and reducing potential, in terms of NADPH production, were more pronounced in AC. Conclusions These results suggest that NTBI is more important than the decrease of antioxidant defences in inducing lipid peroxidation. NTBI may play a catalytic role in free radical reactions in the presence of cellular reductants such as NADPH. [ABSTRACT FROM AUTHOR]

Abstract Background In β-thalassaemia syndromes, decreased or impaired biosynthesis of β-globin leads to accumulation of unpaired α-globin chains. Moreover, the iron overload in β-thalassaemia patients generates oxygen-free radicals and peroxidative tissue injury. The aim of this study was to detect and correlate iron overload parameters with the oxidative stress and the antioxidant capability in β-thalassaemia patients. Design Serum iron, transferrin saturation, serum ferritin, nontransferrin-bound iron (NTBI), levels of serum free and total (free + bound) malondialdehyde (MDA) and total peroxyl radical-trapping antioxidant parameter (TRAP) were evaluated in 21 regularly transfused β-thalassaemia major (TM) patients, 13 untransfused β-thalassaemia intermedia (TI) patients and 17 healthy controls. Blood from the TM patients was drawn 48 h after the last desferoxamine (20–40 mg kg-1 ) infusion and just before transfusion. Results Free and total MDA and NTBI levels were higher in the TM patients than in the TI. In the TM patients the free MDA levels correlated positively with serum iron (r = +0·3, P = 0·0006), whereas the total MDA correlated positively with NTBI (r = +0·45, P = 0·037). However, a negative correlation was observed between TRAP and NTBI (r = -0·4, P = 0·0006). In the TI patients there was no significant correlation between free or total MDA and TRAP or NTBI. Conclusions Our results confirm the peroxidative status generated by iron overload in thalassaemia patients and highlight the rapid formation of marked amounts of free MDA despite the chelation therapy in TM patients. [ABSTRACT FROM AUTHOR]