Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient's parents or guardians with subsequent review of patient's medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS IIIA: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of signs/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS VI: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. Several health professionals were involved in patient's care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and the establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests.     

Patterns of substance use among Argentinean adolescents and analysis of the effect of age at first alcohol use on substance use behaviors

Objective

The present study used an empirically based method to characterize substance use in a sample of Argentinean adolescents and analyzed the association between age at drinking onset and substance use behaviors. Differences in alcohol expectancies and personality traits as a function of different patterns of substance use were also explored.

Method

Data were obtained from 583 adolescents aged 13–18 years (M = 15.01 years; SD = 1.5 years; 59.5% female) from the city of Cordoba, Argentina. Alcohol, tobacco, and drug use and age at first alcohol use were measured. Personality traits, including extroversion, conscientiousness, impulsivity, and aggression, and positive and negative alcohol expectancies were assessed. Latent Class Analysis was applied to examine the structure of five co-occurring substance use behaviors: frequency of alcohol use, quantity of alcohol use, prevalence of drunkenness episodes, tobacco use, and drug use.

Results

Latent Class Analysis revealed five distinct patterns of substance use. The classes differed in substance use behaviors, personality traits, and alcohol expectancies. Adolescents with early drinking onset were more likely to show heavier alcohol use, more drunkenness episodes, and more drug use than adolescents with late drinking onset.

Conclusions

Latent Class Analysis allowed the detection of groups of adolescents with distinct patterns of substance use. These groups exhibited significantly different personality and alcohol expectancy profiles, likely representing subgroups who are at greater risk for developing alcohol-related problems.     

Personality traits and illicit substances: The moderating role of poverty

Background

Illicit substances increase risk of morbidity and mortality and have significant consequences for society. Personality traits are associated with drug use; we test whether these associations vary by socioeconomic status.

Method

Participants (N = 412) from the Healthy Aging in Neighborhoods of Diversity across the Life Span (HANDLS) study completed the Revised NEO Personality Inventory and self-reported use of opiates and cocaine. 50% of participants were living below 125% of the federal poverty line. Mean-level personality differences across never, former, and current opiate/cocaine users were compared. Logistic regressions compared never versus current users and interactions between personality traits and poverty status tested whether these associations varied by socioeconomic status.

Results

High Neuroticism and low Agreeableness increased risk of drug use. The association between low Conscientiousness and drug use was moderated by poverty, such that low Conscientiousness was a stronger risk factor for illicit substance use among those with relatively higher SES. For every standard deviation decrease in Conscientiousness, there was a greater than 2-fold increase in risk of illicit substance use (OR = 2.15, 95% CI = 1.45–3.17). Conscientiousness was unrelated to drug use among participants living below 125% of the federal poverty line.

Conclusions

Under favorable economic conditions, the tendency to be organized, disciplined, and deliberate is protective against drug use. These tendencies, however, matter less when financial resources are scarce. In contrast, those prone to emotional distress and antagonism are at greater risk for current drug use, regardless of their economic situation.     

Comparative Study Of Anthraquinones From Embryogenic Callus Tissue And Zygotic Embryos Of Frangula Alnus And Rhamnus Catharticus

Organogenesis and somatic embryogenesis were achieved in cotyledon cultures of Frangula alnus Mill. (alder buckthorn) and Rhamnus catharticus L. (common buckthorn), and in zygotic embryo cultures of F. alnus. Histological examination of cotyledonary segment cultures revealed that adventitious buds and somatic embryos arose indirectly through an intervening callus phase. In comparison to zygotic embryos, embriogenic callus of Frangula alnus contained significantly more anthraquinones in the form of free aglycones and different participation of chrysophanol and physcion within synthesized complex of metabolites. Also, in comparison to shoots, root cultures and in particular undifferentiated callus of Frangula alnus, embryogenic callus contained more chysophanol and aloe emodin and less physcion derivatives. Production of physcion derivatives was significantly increased in embryogenic calluses of R. catharticus compared to zygotic embryos. On the other hand, the emodin content was lower than in zygotic embryos. In comparison to shoot, root cultures and in particular undifferentiated callus of common buckthorn, embryogenic callus contained significantly more derivatives of physcion and emodin. The content of chrysophanol and its derivatives was decreased proportionally.     

Immunoprotective activities of a Streptococcus suis pilus subunit in murine models of infection

Pili of gram-positive bacteria are key virulence factors and their subunits are considered excellent vaccine candidates. Streptococcus suis is an emerging zoonotic agent that can cause epidemics of life-threatening infections in humans, but the functional role or immunoprotective potential of its pilus components have not been studied yet. Using a selective proteomics approach, we have identified a surface protein of serotype 2 S. suis showing features of an ancillary pilus subunit, as evidenced by bioinformatics analysis, immunoblot and immunoelectron microscopy. Immunization with recombinant fragments of this protein, designated herein as PAPI-2b, markedly protected mice from systemic S. suis infection.     

Personality Changes With Dementia From the Informant Perspective: New Data and Meta-Analysis

Objective

To examine changes in personality in individuals with mild cognitive impairment (MCI) or dementia as observed by family members using both new data and a meta-analysis with the published literature.

Neurotrophin delivery using nanotechnology

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Theoretical arguments for the discounting of health consequences: where do we go from here?

Despite the theoretical arguments presented in the literature regarding discounting over the last 25 years, no satisfactory reply has yet been offered to the question of whether health consequences have to be discounted at the same rate as monetary consequences in the economic evaluation of health programmes or interventions designed to improve health. Against this background, the main objective of this paper was to review and systemise these theoretical arguments, with the aim of determining whether any of the positions identified can be accepted without reservation. Having determined that this is not possible, we investigated the rationality of discounting in the literature and, on this basis, propose a potential way to resolve the problem. Thus, we argue that the relationship between the discount of monetary and health consequences has to be determined in an indirect manner, by reference to the relationship maintained by the individual time preference rates for health and money in the context of private and social choice. Although this proposal moves the debate into the empirical field, its advantages must be weighed against the difficulties associated with the estimation of the time preferences.