Substance use disorder comorbidity with schizophrenia in families of Mexican and Central American Ancestry

artículo -- Universidad de Costa Rica. Centro Investigación en Biología Molecular y Celular, 2010. Este documento es privado debido a limitaciones de derechos de autor.

FAMILY CHARACTERISTICS, STATE PROGRAM EFFECTIVENESS, AND REPORT OF INADEQUATE CARE AMONG FAMILIES OF YOUNG CHILDREN WITH HEARING LOSS

Approximately 1.6 per 1,000 newborns in the U.S. are born with hearing loss. Congenital hearing loss poses a risk to their speech, language, cognitive, and social-emotional development. Early detection and intervention can improve outcomes. Every state has an Early Hearing Detection and Intervention program (EHDI) to promote and track screening, audiological assessments and linkage to early intervention. However, a large percentage of children are “lost to system (LTS),” meaning that they did not receive recommended care or that it was not reported. This study used data from the 2009-2010 National Survey of Children with Special Health Care Needs and data from the 2011 EHDI Hearing Screening and Follow-Up Survey to examine how 1) family characteristics; 2) EHDI program effectiveness, as determined by LTS percentages; and 3) the family conditions of education and poverty are related to parental report of inadequate care. The sample comprised 684 children between the ages of 0 and 5 years with hearing loss. The results indicated that living in states with less effective EHDI programs was associated with an increased likelihood of not receiving early intervention services (EIS) and of reporting poor family-centered communication. Sibling classification was associated with both receipt of EIS and report of unmet need. Single mothers were less likely to report increased difficulties accessing care. Poor and less educated families, assessed separately, who lived in states with less effective EHDI programs, were more likely to report non-receipt of EIS and less likely to report unmet need as compared to similar families living in states with more effective programs. Poor families living in states with less effective programs were more likely to report less coordinated care than were poor families living in states with more effective programs. This study supports the conclusion that both family characteristics and the effectiveness of state programs affect quality of care outcomes. It appears that less effective state programs affect disadvantaged families’ service receipt report more than that of advantaged families. These findings are important because they may provide insights into the development of targeted efforts to improve the system of care for children with hearing loss.

The families of plants, with their natural characters, according to the number, figure, situation, and proportion of all the parts of fructification.

"An alphabetical catalogue of English and Scotch names of plants ...": vol. II, p. [809]-840.

Almost Disjoint Families of Representing Sets

The thesis is concerned with a number of problems in Combinatorial Set Theory. The Generalized Continuum Hypothesis is assumed. Suppose X and K are non-zero cardinals. By successively identifying K with airwise disjoint sets of power K, a function/: X-*•K can be viewed as a transversal of a pairwise disjoint (X, K)family A . Questions about families of functions in K can thus bethought of as referring to families of transversals of A. We wish to consider generalizations of such questions to almost disjoint families; in particular we are interested in extensions of the following two problems: (i) What is the 'maximum' cardinality of an almost disjoint family of functions each mapping X into K? (ii) Describe the cardinalities of maximal almost disjoint families of functions each mapping X into K. Article in Bulletin of the Australian Mathematical Society 27(03):477 - 479 · June 1983  

On continuous families of geometric Seifert conemanifold structures

In this paper, dedicated to Prof. Lou Kauffman, we determine the Thurston’s geometry possesed by any Seifert fibered conemanifold structure in a Seifert manifold with orbit space (Formula presented.) and no more than three exceptional fibers, whose singular set, composed by fibers, has at most three components which can include exceptional or general fibers (the total number of exceptional and singular fibers is less than or equal to three). We also give the method to obtain the holonomy of that structure. We apply these results to three families of Seifert manifolds, namely, spherical, Nil manifolds and manifolds obtained by Dehn surgery on a torus knot (Formula presented.). As a consequence we generalize to all torus knots the results obtained in [Geometric conemanifolds structures on (Formula presented.), the result of (Formula presented.) surgery in the left-handed trefoil knot (Formula presented.), J. Knot Theory Ramifications 24(12) (2015), Article ID: 1550057, 38pp., doi: 10.1142/S0218216515500571] for the case of the left handle trefoil knot. We associate a plot to each torus knot for the different geometries, in the spirit of Thurston.

Barriers and facilitators to initial and continued attendance at community-based lifestyle programmes among families of overweight and obese children: a systematic review

The success of childhood weight management programmes relies on family engagement. While attendance offers many benefits including the support to make positive lifestyle changes, the majority of families referred to treatment decline. Moreover, for those who do attend, benefits are often compromised by high programme attrition. This systematic review investigated factors influencing attendance at community-based lifestyle programmes among families of over-weight or obese children. A narrative synthesis approach was used to allow for the inclusion of quantitative, qualitative and mixed-method study designs. Thirteen studies met the inclusion criteria. Results suggest that parents provided the impetus for programme initiation, and this was driven largely by a concern for their child's psychological health and wellbeing. More often than not, children went along without any real reason or interest in attending. Over the course of the programme, however, children's positive social experiences such as having fun and making friends fostered the desire to continue. The stigma surrounding excess weight and the denial of the issue amongst some parents presented barriers to enrolment and warrant further study. This study provides practical recommendations to guide future policy makers, programme delivery teams and researchers in developing strategies to boost recruitment and minimise attrition.

Plasma aldosterone is independently associated with the metabolic syndrome.

The aim of this study was to analyze the associations of plasma aldosterone and plasma renin activity with the metabolic syndrome and each of its components. We analyzed data from a family based study in the Seychelles made up of 356 participants (160 men and 196 women) from 69 families of African descent. In multivariable models, plasma aldosterone was associated positively (P < 0.05) with blood pressure in older individuals (interaction with age, P < 0.05) and with waist circumference in men (interaction with sex, P < 0.05) and negatively with high-density lipoprotein cholesterol, in particular in individuals with elevated urinary potassium excretion (interaction with urinary potassium, P < 0.05); plasma renin activity was significantly associated with triglycerides and fasting blood glucose. Plasma aldosterone, but not plasma renin activity, was associated with the metabolic syndrome per se, independently of the association with its separate components. The observation that plasma renin activity was associated with some components of the metabolic syndrome, whereas plasma aldosterone was associated with other components of the metabolic syndrome, suggests different underlying mechanisms. These findings reinforce previous observations suggesting that aldosterone is associated with several cardiovascular risk factors and also suggest that aldosterone might contribute to the increased cardiovascular disease risk in individuals of African descent with the metabolic syndrome.

Identification du gène Anoctamine 5 responsable d'une nouvelle forme récessive de dystrophie musculaire des ceintures

Les dystrophies musculaires des ceintures (ou limb-girdle muscular dystrophy, LGMD) sont un groupe hétérogène de dystrophies musculaires chez l’adulte et sont définies par une atrophie et une faiblesse progressive qui surviennent dans les muscles proximaux. Chez une cohorte canadienne-française, nous avons précédemment décrit une nouvelle forme récessive, désignée LGMD2L et marquée par une atrophie asymétrique du quadriceps, que nous avions cartographiée au chromosome 11p12-p13 grâce à des analyses de liaison. L’objectif de ce projet de thèse était de raffiner l’intervalle candidat, puis d’identifier et de caractériser le gène muté responsable de la LGMD2L. Grâce à une cartographie par homozygotie de polymorphismes de nucléotide simple (SNPs) réalisée sur une grande famille consanguine, nous avons redéfini l’intervalle candidat à une région du chromosome 11p14.3-p15.1. Par séquençage de l’ADN génomique et complémentaire au gène Anoctamine 5 (ANO5) inclus dans cet intervalle, nous avons identifié trois mutations, chez autant de familles: une substitution créant un site d’épissage aberrant, une insertion d’un nucléotide et une mutation faux-sens. Les deux premières mutations étaient associées à une hausse de la dégradation de l’ARN messager médiée par une troncation prématurée. Nous avons également identifié des mutations ANO5 chez une seconde dystrophie musculaire de type distal cartographiant au même locus que la LGMD2L, nommée MMD3, et dont la manifestation initiale était une faiblesse des mollets, mais qui pouvait progresser vers une atrophie des quadriceps. Une réparation membranaire défective avait été observée chez les fibroblastes de deux patients MMD3, suggérant un rôle pour ANO5 dans ce mécanisme. La localisation et la fonction d’ANO5 dans le muscle sont inconnues, mais cette protéine fait partie d’une famille conservée de protéines à huit domaines transmembranaires, les Anoctamines, dont certains membres sont des transporteurs chloriques activés par le calcium. Les résultats de nos études d’immunofluorescence suggèrent qu’ANO5 se localise peu au sarcolemme, mais plutôt à une structure intracellulaire qui suit la ligne Z des myofibrilles. De façon étonnante, cette localisation était préservée chez un patient LGMD2L porteur homozygote de la mutation d’épissage, en dépit du fait que cette dernière était considérée comme une mutation nulle. Néanmoins, nous avons identifié un épissage alternatif de l’exon 15 qui se produisait sur une proportion des transcrits porteurs de la mutation d’épissage, ce qui rétablirait le cadre de lecture, soulignant la complexité de la régulation de l’épissage d’ANO5 et laissant croire que la LGMD2L pourrait être causée par une perte de fonction partielle, et non complète, d’ANO5. Des études subséquentes par des groupes européens ont montré que les anoctaminopathies 5 sont une cause fréquente de dystrophies musculaires des ceintures chez l’adulte. Notre découverte de mutations au gène Anoctamine 5 a mis en évidence une nouvelle classe de protéines importantes pour la biologie du muscle et a ouvert la voie à de nouvelles pistes pour étudier les mécanismes par lesquels un défaut de réparation membranaire progresse en une dystrophie musculaire.

A phylogenetic study of hepatitis B virus in chronically infected Brazilian patients of Western and Asian descent

Hepatitis B virus (HBV) causes one of the most important chronic viral infections worldwide. HBV is classified into eight genotypes whose epidemiology varies geographically. In Brazil, genotypes A, D, and F are more frequent, while in East Asia, genotypes B and C predominate. Several studies showed that immigrants retain the HBV infection pattern of their ancestral country. To identify HBV genotypes infecting chronic carriers in Brazilian families of Western and Asian descent by Hepatitis B surface antigen gene sequencing and analyze the route of viral transmission by phylogenetic analysis of viral sequences. Eighty-seven people chronically infected with HBV were separated into two groups: Western descent (27) and Asian descent (60). Surface and pre-core/core genes were amplified from serum HBV-DNA and sequences were subjected to phylogenetic analysis. HBV genotype A was found in 74% of Western subjects, while genotype C was found in 94% of Asian patients. Thirty-eight percent of Western families were infected with HBV with similar pre-core/core sequences, while only 25% of Asian families showed similarity in these sequences. Phylogenetical analysis of pre-core/core HBV gene suggested intra-familial transmission of HBV in 38% of Western families and 25% of Asian families. Analysis of HBsAg gene sequences helped to define the HBV genotype but did not allow inferring route of transmission as its sequences showed a smaller phylogenetic signal than pre-core/core sequences. Chronic HBV carriers of Asian descent born in or living in Brazil were infected with the same HBV genotype predominant in their ancestral country.

Proportional cancer incidence according to selected sites: comparison between residents in the City of S. Paulo, Brazil: Japanese and Brazilian/Portuguese descent

The percentual distributions of selected sites of cancer cases according to origin, sex and age are compared. Data were obtained from the Registry of Cancer of S. Paulo (School of Public Health of the University of S. Paulo, Brazil). The reference period for inhabitants of Japanese descent was 1969/78 and for those of Brazilian descent, the period was 1969/75. Standardized Proportionate Incidence Ratios (SPIR) with approximate 95% Confidence Intervals (CI) were evaluated using age specific Incidence Ratios of S. Paulo, 1973, as standards. The results agree with findings of previous works on mortality, but show different patterns according to origin. The well known fact that some sub-groups of a population may be different from the overall group is once again brought to the fore. Attention should be drawn to the differences detected for stomach, skin and prostate, in males, and for stomach, skin, cervix and uterus in females.

Elaboração e aplicação de um Programa de Treino aos alunos do 2º ano de Dança, da Academia de Dança do Vale do Sousa, com vista à realização do exame de Grau 5 da Royal Academy of Dance

Relatório Final de Estágio apresentado à Escola Superior de Dança, com vista à obtenção do grau de Mestre em Ensino de Dança.

In search of mathematical primitives for deriving universal projective hash families

We provide some guidelines for deriving new projective hash families of cryptographic interest. Our main building blocks are so called group action systems; we explore what properties of this mathematical primitives may lead to the construction of cryptographically useful projective hash families. We point out different directions towards new constructions, deviating from known proposals arising from Cramer and Shoup's seminal work.

Observations on the dipteran fauna in a focus of dermal leishmaniasis in the State of Minas Gerais: II. The distribution of families in relation to their medical, veterinary and economic importance

Miniature light traps used to collect Phlebotominae in a focus of dermal leishmaniasis in the eastern part of the State of Minas Gerais, Brazil. Over a period of seven months, the other Diptera captured in 179 light trap samples were identified to family level. The traps were placed in eight localities which constituted three different biotopes: three woodland aresas, cultivated land, and a peridomestic site. A comparison is made between the totals of Dipeterans collected in each biotope, the total numbers of families collected in each biotope and the estimated indices of diversity. Dendograms representing the degrees of association between families of Diptera in different biotopes are presented. Some families of Diptera are uniformly distributed throughout the study area; a few families seem to have become adapted to areas where human activity has induced the greatest ecological changes. The impact between Dipterans and human well-being is discussed. The availabel evidence indicates that transmission of dermal leishmaniasis does not occur in areas where sand flies can be captured in greatest densities.

Rate of gene sequence evolution and species diversification in flowering plants: a re-evaluation

Barraclough and co-workers (in a paper published in 1996) observed that there was a significant positive correlation between the rate of evolution of the rbcL chloroplast gene within families of flowering plants and the number of species in those families. We tested three additional data sets of our own (based on both plastid and nuclear genes) and used methods designed specifically for the comparison of sister families (based on random speciation and extinction). We show that, over all sister groups, the correlation between the rate of gene evolution and an increased diversity is not always present. Despite tending towards a positive association, the observation of individual probabilities presents a U-shaped distribution of association (i.e. it can be either significantly positive or negative). We discuss the influence of both phylogenetic sampling and applied taxonomies on the results.