Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

BACKGROUND: Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. CASE PRESENTATION: We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH). We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. CONCLUSION: This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion

The effect of swimming on oral health status: competitive versus non-competitive athletes

ABSTRACT Young swimmers are particularly susceptible to the onset of oral diseases. Objective To evaluate the oral health status in young competitive and non-competitive swimmers, involving an assessment of salivary cariogenic bacteria and secretory IgA (S-IgA) concentration. Material and Methods Before training sessions (T1), 54 competitive and 69 non-competitive swimmers had the following parameters assessed: decayed, missing, and filled teeth (DMFT), Plaque Index (PlI), and Gingival Index (GI). At T1 and after training sessions (T2), stimulated saliva was collected and microbiological and immunological analyses were performed. Results Competitive swimmers trained 2.02±0.09 hours 5 times a week, while non-competitive swimmers trained 2.03±0.18 hours a week. A total of 14.7% of competitive swimmers suffered dental trauma related to sports. Only 11.76% of the competitive swimmers took a daily dose of fluoride, against 32.65% of non-competitive swimmers (p=0.029). Neither group followed an established diet or presented statistically significant differences in terms of nutritional supplement drink and chocolate intake. There were statistically significant differences in terms of oral hygiene. No significant difference in clinical indexes (DMFT, PlI, and GI) was present. S. mutans was harbored by 18.6% of competitive and the 32.2% of non-competitive swimmers. S. sobrinus was detected in 22.03% of competitive and 91.6% of non-competitive swimmers (p<0.05). S. sanguinis was found only in the saliva of competitive swimmers. The average S-IgA of competitive swimmers decreased significantly at T2 (p<0.05). The pool water had a daily average pH of 7.22. Conclusions Microbial markers, immune status and sporting characteristics are important for establishing guidelines for management of training load in order to minimize physical stress and the risk of oral infection

PISA. The effect of paracetamol (acetaminophen) and ibuprofen on body temperature in acute stroke: Protocol for a phase II double-blind randomised placebo-controlled trial [ISRCTN98608690]

BACKGROUND: During the first days after stroke, one to two fifths of the patients develop fever or subfebrile temperatures. Body temperature is a strong prognostic factor after stroke. Pharmacological reduction of temperature in patients with acute ischaemic stroke may improve their functional outcome. Previously, we studied the effect of high dose (6 g daily) and low dose (3 g daily) paracetamol (acetaminophen) in a randomised placebo-controlled trial of 75 patients with acute ischemic stroke. In the high-dose paracetamol group, mean body temperature at 12 and 24 hours after start of treatment was 0.4°C lower than in the placebo group. The effect of ibuprofen, another potent antipyretic drug, on body-core temperature in normothermic patients has not been studied. AIM: The aim of the present trial is to study the effects of high-dose paracetamol and ibuprofen on body temperature in patients with acute ischaemic stroke, and to study the safety of these treatments. DESIGN: Seventy-five (3 × 25) patients with acute ischaemic stroke confined to the anterior circulation will be randomised to treatment with either: 400 mg ibuprofen, 1000 mg acetaminophen, or with placebo 6 times daily during 5 days. Body-temperatures will be measured with a rectal electronic thermometer at the start of treatment and after 24 hours. An infrared tympanic thermometer will be used to monitor body temperature at 2-hour intervals during the first 24 hours and at 12-hour intervals thereafter. The primary outcome measure will be rectal temperature at 24 hours after the start of treatment. The study results will be analysed on an intent-to-treat basis, but an on-treatment analysis will also be performed. No formal interim analysis will be carried out

The Career Decisions of Gifted Students: An Asian-Pacific Perspective

Drawing on the literature in multiple related areas, an overview is presented in this chapter of the major issues that may surround career decisions for gifted students in the Asia-Pacific region. After a discussion on the pervasive role of family influence reflecting cultural values in the region, coverage is given to the importance placed on extrinsic values such as prestige, economic returns, and stability in a career (and the lack of emphasis on intrinsic values such as interest and a desire for intellectual stimulation), along with gender role expectations and the experience of career indecision. Thereafter, the similarities and differences in the career aspirations of gifted students in the region with the career aspirations of gifted students in Western societies are explained. Following this, two career theories that may be useful in understanding the career decisions of this group—the theory of circumscription and compromise and the theory of work adjustment—are discussed. The chapter concludes with some speculative, but research-informed, thoughts on the future of the career decisions of gifted students in the region

Three timescales in prism adaptation

It has been proposed that motor adaptation depends on at least two learning systems, one that learns fast but with poor retention and another that learns slowly but with better retention (Smith MA, Ghazizadeh A, Shadmehr R. PLoS Biol 4: e179, 2006). This two-state model has been shown to account for a range of behavior in the force field adaptation task. In the present study, we examined whether such a two-state model could also account for behavior arising from adaptation to a prismatic displacement of the visual field. We first confirmed that an “adaptation rebound,” a critical prediction of the two-state model, occurred when visual feedback was deprived after an adaptation-extinction episode. We then examined the speed of decay of the prism aftereffect (without any visual feedback) after repetitions of 30, 150, and 500 trials of prism exposure. The speed of decay decreased with the number of exposure trials, a phenomenon that was best explained by assuming an “ultraslow” system, in addition to the fast and slow systems. Finally, we compared retention of aftereffects 24 h after 150 or 500 trials of exposure: retention was significantly greater after 500 than 150 trials. This difference in retention could not be explained by the two-state model but was well explained by the three-state model as arising from the difference in the amount of adaptation of the “ultraslow process.” These results suggest that there are not only fast and slow systems but also an ultraslow learning system in prism adaptation that is activated by prolonged prism exposure of 150–500 trials. </p

Three timescales in prism adaptation.

It has been proposed that motor adaptation depends on at least two learning systems, one that learns fast but with poor retention and another that learns slowly but with better retention (Smith MA, Ghazizadeh A, Shadmehr R. PLoS Biol 4: e179, 2006). This two-state model has been shown to account for a range of behavior in the force field adaptation task. In the present study, we examined whether such a two-state model could also account for behavior arising from adaptation to a prismatic displacement of the visual field. We first confirmed that an "adaptation rebound," a critical prediction of the two-state model, occurred when visual feedback was deprived after an adaptation-extinction episode. We then examined the speed of decay of the prism aftereffect (without any visual feedback) after repetitions of 30, 150, and 500 trials of prism exposure. The speed of decay decreased with the number of exposure trials, a phenomenon that was best explained by assuming an "ultraslow" system, in addition to the fast and slow systems. Finally, we compared retention of aftereffects 24 h after 150 or 500 trials of exposure: retention was significantly greater after 500 than 150 trials. This difference in retention could not be explained by the two-state model but was well explained by the three-state model as arising from the difference in the amount of adaptation of the "ultraslow process." These results suggest that there are not only fast and slow systems but also an ultraslow learning system in prism adaptation that is activated by prolonged prism exposure of 150-500 trials