Primary hyperlipidemias in children: effect of plant sterol supplementation on plasma lipids and markers of cholesterol synthesis and absorption.

Plant sterols lower serum cholesterol concentration. Available data have confirmed the lipid-lowering efficacy in adults, while there is a relative dearth of data in children and almost exclusively restricted to subjects with familial hypercholesterolemia (FH). Aim of the present study was to evaluate the efficacy, tolerability and safety of plant sterol supplementation in children with different forms of primary hyperlipidemias. The effect of plant sterol consumption on plasma lipids was evaluated in 32 children with heterozygous FH, 13 children with Familial Combined Hyperlipidemia (FCH) and 13 children with Undefined Hypercholesterolemia (UH) in a 12-week open-label intervention study using plant sterol-enriched yoghurt. Plasma lipids and apolipoproteins were measured by routine methods. Markers of cholesterol synthesis (lathosterol) and absorption (campesterol and sitosterol) were measured by GC-MS. Tolerability and adherence to recommended regimen was very high. A significant reduction was observed in LDL-cholesterol in the three groups (10.7, 14.2 and 16.0% in FH, FCH and UH, respectively). Lathosterol concentrations were unchanged, reflecting a lack of increased synthesis of cholesterol. Of the two absorption markers, only sitosterol showed a slight but significant increase. Daily consumption of plant sterol dairy products favorably changes lipid profile by reducing LDL-cholesterol. To our knowledge, this is the first report of the use of plant sterols-enriched foods in treating children with primary hyperlipidemia such as FCH and UH, likely to be the most frequent form also in the young age in the western populations.

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

BACKGROUND: Sitosterolaemia is a rare autosomal recessive disorder characterised by elevated plasma levels of plant sterols and cholesterol. Sitosterolaemia is caused by gene mutations in either of two ATP-binding cassette (ABC) half transporters, ABCG5 and ABCG8. The plasma sterol profile and genetic analysis of a 10-year-old girl who had tuberous xanthomas is the subject of this report. MATERIALS AND METHODS: Genomic DNA was isolated from white blood cells from the proband, her family and a control group of healthy people. All exons of ABCG5 and ABCG8 were sequenced. Plasma cholesterol and triglycerides were measured by routine methods. All other plasma sterols were measured by Gas Chromatography coupled to Mass Spectrometry. RESULTS: The proband was found to be homozygous for a single nucleotide mutation in exon 10 of the ABCG5 gene, consisting of a C to T transition at nucleotide 1336 of the coding sequence, which results in the premature termination of the ABCG5 protein at amino acid 446 (Arg446X). Her mother and brother were also homozygous for the same mutation and all had elevated plasma beta-sitosterol levels. The father was heterozygous and showed normal beta-sitosterol levels. This mutation was not found in healthy normolipidaemic subjects. CONCLUSIONS: We describe a novel nonsense mutation in exon 10 of the ABCG5 gene in a 10-year-old girl showing clinical and biochemical features of sitosterolaemia. This family study broadens the spectrum of the ABCG5/ABCG8 mutations causing sitosterolaemia and helps highlight the correlations between such gene mutations, biochemical phenotype and the development of cardiovascular disease.

Does attention modulate the perception of luminance changes?

In a previous study assessing the modulation of visual processing by attention, Bonnel, Possamî, and Schmitt showed that, when discriminating line-length, subjects precisely shared processing resources between two pairs of lines presented to the left and right of fixation. In a close replication requiring the detection of luminance increments instead of line-length differences, subjects were unable to follow the instructions and to allocate attention differentially, thus supporting the claim that light detection is fundamentally different from shape discrimination. In a subsequent experiment, we tested and rejected the possibility that luminance perception was not open to modulation by attention due to its physical nature. Replacing brightness detection by brightness identification allowed voluntary control on the quality of processing to be evidenced. The similarity between the latter results and the data from line-length discrimination suggests that task requirements may be crucial in determining the distribution of attention.

Maturational influences on perseveration of avoidance and reversal learning after selected brain damage in rats.

In Experiment I, 18 weanling and 18 adult male rats received bilateral electrolytic lesions of the dorsomedial or ventrolateral prefrontal cortex, or the hippocampus, while 12 additional pups and adults served as nonoperated controls (n = 6/group). Subjects were observed for perseverative responding in acquisition of a stepup avoidance task, followed by reversal training and extinction. Thirty days later, subjects were retrained and tested in the same manner. During initial training, the numbers of trials to criteria, errors, and latencies on the last 5 trials all indicated significant effects from age, primarily, and surgery, secondarily. After 30 days, surgical effects assumed a more dominant role, with hippocampal and ventrolateral damage producing the greatest extent of response perseveration. Experiment II replicated the essential procedural sequence as Experiment I, but included damage from combined lesions. 24 weanlings and 24 adults received bilateral lesions to the dorsomedial prefrontal cortex, the dorsomedial prefrontal cortex plus caudate nucleus, or sham lesions. Subjects from this experiment were trained after 7 days or 60 days recovery (n = 6/group). The acquisition results indicated that all independent variables were significant, but only the age effect attained significance in the extinction data. Both experiments point to the profound influence of age at the time of damage in accounting for recovery of avoidance behavior.

[Hematological and hematochemical signs in the diagnosis of chronic alcoholism in its early stages]. / Segni ematochimici ed ematologici per la diagnosi di alcolismo cronico in fase precoce.

Lab tests designed to reveal the presence of pathological liver and haemopoietic organ alterations were run in 72 alcohol addicts. It was found that chronic alcoholism is more often accompanied by hypoazotaemia (90.28% of cases), increased globular volume (90.28%), increased IgA (85%), decreased blood transferrin (95.45%), and increase Ig A: blood transferrin ratio (90%) than by other signs. Liver biopsy and sternal puncture, together with gastroendoscopy, showed that these signs are constant and early evidence of initial anatomical and functional damage to the liver and blood production organs due to alcohol.