NCLs and ER: A stressful relationship.

The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments. The endoplasmic reticulum (ER) is a critical organelle for normal cell function. Alteration of ER homeostasis leads to accumulation of misfolded protein in the ER and to activation of the unfolded protein response. ER stress and the UPR have recently been linked to the NCLs. In this review, we will discuss the evidence for UPR activation in the NCLs, and address its connection to disease pathogenesis. Further understanding of ER-stress response involvement in the NCLs may encourage development of novel therapeutical agents targeting these pathogenic pathways

N=1 Matter from Fractional Branes

We study a bound state of fractional D3-branes localized inside the world-volume of fractional D7-branes on the orbifold C^3/Z_2 x Z_2. We determine the open string spectrum that leads to N=1 U(N1)xU(N2)xU(N3)xU(N4) gauge theory with matter having the number of D7-branes as a flavor index. We derive the linearized boundary action of the D7-brane on this orbifold using the boundary state formalism and we discuss the tadpole cancellation. After computing the asymptotic expression of the supergravity solution the anomalies of the gauge theory are reproduced.Comment: LaTeX 20 pages, 1 figure, small changes and references adde

A general interpolation scheme for thermal fluctuations in superconductors

We present a general interpolation theory for the phenomenological effects of thermal fluctuations in superconductors. Fluctuations are described by a simple gauge invariant extension of the gaussian effective potential for the Ginzburg-Landau static model. The approach is shown to be a genuine variational method, and to be stationary for infinitesimal gauge variations around the Landau gauge. Correlation and penetration lengths are shown to depart from the mean field behaviour in a more or less wide range of temperature below the critical regime, depending on the class of material considered. The method is quite general and yields a very good interpolation of the experimental data for very different materials.Comment: some misprints have been corrected in Eq.(15),(19); more references and comments have been adde

Motor skills in children with primary headache: A pilot case-control study

Background: Headache is the most common painful manifestation in the developmental age, often accompanied by severe disability such as scholastic absenteeism, low quality of academic performance and compromised emotional functioning. The aim of the study is to evaluate praxic abilities in a population of children without aural migraine. Materials and methods: The test population consists of 10 subjects without migraine without aura (MwA), (8 Males) (mean age 8.40, SD ± 1.17) and 11 healthy children (7 Males) (mean age 8.27; SD ± 1.10; p = 0.800). All subjects underwent evaluation of motor coordination skills through the Battery for Children Movement Assessment (M-ABC). Results: The two groups (10 MwA vs 11 Controls) were similar for age (8.40 ± 1.17 vs 8.27 ± 1.10; p = 0.800), sex (p = 0.730), and BMI (p = 0.204). The migraine subjects show an average worse performance than the Movement ABC; specifically, migraineurs show significantly higher total score values (31.00 ± 23.65 vs 4.72 ± 2.61; p = 0.001), manual dexterity (12.10 ± 11.20 vs 2.04 ± 2.65; p = 0.009) and balance (14.85 ± 10.08 vs. 1.04 ± 1.05; p <0.001). The mean percentile of migraine performance is significantly reduced compared to controls (9.00 ± 3.82 vs 51.00 ± 24.34, p <0.001) (Table 1). Conclusion: Migraine can alter many cognitive and executive functions such as motor skills in developmental age

Visuospatial skills in children affected by primary nocturnal enuresis: Rehabilitative proposals

The sphincterial control problems in childhood are very common, with relevant comorbidities (i.e.: difficulty in academic performance, sleep disturbances, minor neurological signs) involved in the complex process of maturation and learning, such as to cause a great deal of discomfort and related disorders in affected subjects. Enuresis is characterized by the involuntary urination in the absence of a physical disorder, socially unacceptable in places and at one stage of life where such control is acquired by the majority of subjects (about 5 years). The present study aims to evaluate the visuospatial skills in children affected by primary monosymptomatic nocturnal enuresis (PMNE). 31 PMNE children (16 males and 15 females) (mean age 10.87, SD ± 1.68) and 61 healthy children (32 males, 29 females) (mean age 11.03, SD ± 1.85, p = 0687) were evaluated for visuomotor skills with the Visual-Motor Integration Scale (VMI). PMNE subjects show a worse performance on average to VMI, especially in the total visual-motor integration test. This finding emphasizes the importance of a framework for global and more complex than is commonly implemented, across the border but framing the subject of enuretic symptoms in a more global perspective

Neuropsychomotricity in water: A new rehabilitative tool for neruodevelop-mental disorders

Neuropsychomotricity in water is a rehabilitative practice that avails itself just of the liquid element, as a mediator of relationships: in water yes they upset all dynamics, be they relational, of equilibrium, of movement and perception, due to the fact that proprioceptive sensations, created by bodily contact with water, they are different than those generated by contact with air

Animals-assisted therapy: A brief review

In rehabilitative setting, the presence of animals can be considered as an important stimulus for verbal and social communication, and for mood regulation. Interaction with an animal is beneficial for children's development and numerous psychological tests have revealed that growing up with pets has a beneficial effect on children's self-esteem and self-confidence, can improve empathy, a sense of responsibility and cognitive development, as well as social status within the peer group

Non-perturbative gauge superpotentials from supergravity

We study U(N) SQCD with N_f <= N flavors of quarks and antiquarks by engineering it with a configuration of fractional D3-branes on a C^3 / Z_2 x Z_2 orbifold. In particular we show how the moduli space of the gauge theory naturally emerges from the classical geometry produced by the D3-branes, and how the non-perturbatively generated superpotential is recovered from geometrical data.Comment: LaTeX, 18 pages, 4 figures; v2: published version with minor changes and an added referenc

Psychopathological and psychodynamic hypotheses for pediatric stuttering

Stuttering is a common language alteration in pediatric age consisting in repetitions and blocks, which entail a break in the rhythm and melody of the speech. According to the WHO it is a disorder of the rhythm of the word, the subject knows precisely what he would like to say, but at the same time he is not able to say it. It is a great inconvenience for those affected, also because the slowing down of speaking is not about thought or cognitive skills

Forensic considerations on violent parasomnias during lifespan

Nocturnal parasomnias are a group of sleep complex manifestation that don't alter the sleep macrostructure, but when persistent during adulthood may be assume violent aspects with relevant forensic implications about the guiltiness