Sensibilidade do linkage probabilístico na identificação de nascimentos informados: estudo Pró-Saúde

O objetivo do estudo foi avaliar a sensibilidade do método de linkage probabilístico de registros na identificação de nascimentos de coorte. Foram utilizados dados da população do Estudo Pró-Saúde, um estudo com funcionários técnico-administrativos do quadro efetivo de uma universidade no Rio de Janeiro, realizado em 1999. Os registros de 92 participantes foram relacionados com a base do Sistema de Informação sobre Nascidos Vivos utilizando o programa RecLink II. Empregaram-se estratégias de revisão manual reduzida e ampliada. A sensibilidade para a identificação dos nascimentos na estratégia reduzida foi de 60,9%, enquanto que na ampliada foi de 72,8%. Os poucos campos disponíveis e a elevada proporção de homônimas representaram os maiores obstáculos para a obtenção de resultados mais acurados.

Subnotificação da comorbidade tuberculose e aids: uma aplicação do método de linkage

OBJETIVO: Analisar a subnotificação da comorbidade tuberculose (TB) e aids. MÉTODOS: Estudo de vigilância utilizando os registros do Sistema de Informação de Agravos de Notificação de Tuberculose e de aids no Brasil de 2000 a 2005. Registros de TB sem informação da presença de aids foram considerados subnotificações da comorbidade quando pareados a registros de aids que apresentassem ano de diagnóstico de aids igual ou anterior ao ano de notificação da TB, assim como os registros de um mesmo paciente cujos registros anteriores apresentavam essa informação. Criou-se um indicador: comorbidade TB-aids reconhecida, a partir dos registros de TB com a informação de presença de aids. RESULTADOS: A subnotificação de TB-aids foi de 17,7%. Esse percentual variou entre estados. A incorporação dos registros subnotificados aos previamente reconhecidos elevou a proporção de TB-aids no Brasil de 6,9% para 8,4%. As maiores proporções de subnotificação foram observadas no Acre, Alagoas, Maranhão e Piauí (mais de 35% cada) e as menores em São Paulo e Goiás (cerca de 10% cada). CONCLUSÕES: A subnotificação da comorbidade TB-aids encontrada no Brasil deve deflagrar modificações no sistema de vigilância para prover informações aos programas nacionais.

Insertion dans les soins après une première hospitalisation dans un secteur pour psychose [Linkage to care after first hospitalisation for psychosis]

BACKGROUND: First hospitalisation for a psychotic episode causes intense distress to patients and families, but offers an opportunity to make a diagnosis and start treatment. However, linkage to outpatient psychiatric care remains a notoriously difficult step for young psychotic patients, who frequently interrupt treatment after hospitalisation. Persistence of symptoms, and untreated psychosis may therefore remain a problem despite hospitalisation and proper diagnosis. With persisting psychotic symptoms, numerous complications may arise: breakdown in relationships, loss of family and social support, loss of employment or study interruption, denial of disease, depression, suicide, substance abuse and violence. Understanding mechanisms that might promote linkage to outpatient psychiatric care is therefore a critical issue, especially in early intervention in psychotic disorders. OBJECTIVE: To study which factors hinder or promote linkage of young psychotic patients to outpatient psychiatric care after a first hospitalisation, in the absence of a vertically integrated program for early psychosis. Method. File audit study of all patients aged 18 to 30 who were admitted for the first time to the psychiatric University Hospital of Lausanne in the year 2000. For statistical analysis, chi2 tests were used for categorical variables and t-test for dimensional variables; p<0.05 was considered as statistically significant. RESULTS: 230 patients aged 18 to 30 were admitted to the Lausanne University psychiatric hospital for the first time during the year 2000, 52 of them with a diagnosis of psychosis (23%). Patients with psychosis were mostly male (83%) when compared with non-psychosis patients (49%). Furthermore, they had (1) 10 days longer mean duration of stay (24 vs 14 days), (2) a higher rate of compulsory admissions (53% vs 22%) and (3) were more often hospitalised by a psychiatrist rather than by a general practitioner (83% vs 53%). Other socio-demographic and clinical features at admission were similar in the two groups. Among the 52 psychotic patients, 10 did not stay in the catchment area for subsequent treatment. Among the 42 psychotic patients who remained in the catchment area after discharge, 20 (48%) did not attend the scheduled or rescheduled outpatient appointment. None of the socio demographic characteristics were associated with attendance to outpatient appointments. On the other hand, voluntary admission and suicidal ideation before admission were significantly related to attending the initial appointment. Moreover, some elements of treatment seemed to be associated with higher likelihood to attend outpatient treatment: (1) provision of information to the patient regarding diagnosis, (2) discussion about the treatment plan between in- and outpatient staff, (3) involvement of outpatient team during hospitalisation, and (4) elaboration of concrete strategies to face basic needs, organise daily activities or education and reach for help in case of need. CONCLUSION: As in other studies, half of the patients admitted for a first psychotic episode failed to link to outpatient psychiatric care. Our study suggests that treatment rather than patient's characteristics play a critical role in this phenomenon. Development of a partnership and involvement of patients in the decision process, provision of good information regarding the illness, clear definition of the treatment plan, development of concrete strategies to cope with the illness and its potential complications, and involvement of the outpatient treating team already during hospitalisation, all came out as critical strategies to facilitate adherence to outpatient care. While the current rate of disengagement after admission is highly concerning, our finding are encouraging since they constitute strategies that can easily be implemented. An open approach to psychosis, the development of partnership with patients and a better coordination between inpatient and outpatient teams should therefore be among the targets of early intervention programs. These observations might help setting up priorities when conceptualising new programs and facilitate the implementation of services that facilitate engagement of patients in treatment during the critical initial phase of psychotic disorders.

Cross-section data, disequilibrium situations and estimated coefficients: evidence from car ownership demand

The objective of this paper is to analyse to what extent the use of cross-section data will distort the estimated elasticities for car ownership demand when the observed variables do not correspond to a state equilibrium for some individuals in the sample. Our proposal consists of approximating the equilibrium values of the observed variables by constructing a pseudo-panel data set which entails averaging individuals observed at different points of time into cohorts. The results show that individual and aggregate data lead to almost the same value for income elasticity, whereas with respect to working adult elasticity the similarity is less pronounced.

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.

BACKGROUND: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients.¦METHODOLOGY/PRINCIPAL FINDINGS: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD(max) of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations.¦CONCLUSIONS/SIGNIFICANCE: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degeneration characterized by multiple glistening intraretinal dots scattered over the fundus, degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Although BCD has been associated with abnormalities in fatty-acid metabolism and absence of fatty-acid binding by two cytosolic proteins, the genetic basis of BCD is unknown. We report linkage of the BCD locus to D4S426 (maximum LOD score [Z(max)] 4.81; recombination fraction [straight theta] 0), D4S2688 (Zmax=3.97; straight theta=0), and D4S2299 (Zmax=5.31; straight theta=0), on chromosome 4q35-4qtel. Multipoint analysis confirmed linkage to the region telomeric of D4S1652 with a Z(max) of 5.3 located 4 cM telomeric of marker D4S2930.

Transmission disequilibrium of small CNVs in simplex autism.

We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded ∼2× more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands' CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.

A genome-wide significant linkage for severe depression on chromosome 3: the depression network study.

Objective: The purpose of this study was to find loci for major depression via linkage analysis of a large sibling pair sample. Method: The authors conducted a genome-wide linkage analysis of 839 families consisting of 971 affected sibling pairs with severe recurrent major depression, comprising waves I and II of the Depression Network Study cohort. In addition to examining affected status, linkage analyses in the full data set were performed using diagnoses restricted by impairment severity, and association mapping of hits in a large case-control data set was attempted. Results: The authors identified genome-wide significant linkage to chromosome 3p25-26 when the diagnoses were restricted by severity, which was a maximum LOD score of 4.0 centered at the linkage marker D3S1515. The linkage signal identified was genome-wide significant after correction for the multiple phenotypes tested, although subsequent association mapping of the region in a genome-wide association study of a U.K. depression sample did not provide significant results. Conclusions: The authors report a genome-wide significant locus for depression that implicates genes that are highly plausible for involvement in the etiology of recurrent depression. Despite the fact that association mapping in the region was negative, the linkage finding was replicated by another group who found genome-wide-significant linkage for depression in the same region. This suggests that 3p25-26 is a new locus for severe recurrent depression. This represents the first report of a genome-wide significant locus for depression that also has an independent genome-wide significant replication.

Resistance to thyroid hormone and down syndrome: coincidental association or genetic linkage?

We report the first case of RTH and DS. Although this congruence could be coincidental, we cannot exclude a possible linkage between both syndromes.

High-frequency linkage of co-expressing T-DNA in transgenic Arabidopsis thaliana transformed by vacuum-infiltration of Agrobacterium tumefaciens

The efficiency of co-expression and linkage of distinct T-DNAs present in separate Agrobacterium tumefaciens was analysed in Arabidopsis thaliana transformed by the vacuum infiltration method. Co-expression was monitored by the synthesis of three bacterial proteins involved in the production of polyhydroxybutyrate (PHB) in the plastids. Out of 80 kanamycin-resistant transgenic plants analysed, 13 plants were co-transformed with the two distinct T-DNAs and produced PHB. Of those, 7 lines had a kanamycin-resistance segregation ratio consistent with the presence of a single functional insert. Genetic linkage between the distinct T-DNAs was demonstrated for all 13 PHB-producing lines, while physical linkage between the distinct T-DNAs was shown for 12 out of 13 lines. T-DNAs were frequently linked in an inverted orientation about the left borders. Transformation of A. thaliana by the co-infiltration of two A. tumefaciens containing distinct T-DNAs is, thus, an efficient approach for the integration and expression of several transgenes at a single locus. This approach will facilitate the creation and study of novel metabolic pathways requiring the expression of numerous transgenes.

Dialogic learning and interactive groups: an IMS LD template integrated in runtime systems

Dialogic learning and interactive groups have proved to be a useful methodological approach appliedin educational situations for lifelong adult learners. The principles of this approach stress theimportance of dialogue and equal participation also when designing the training activities. This paperadopts these principles as the basis for a configurable template that can be integrated in runtimesystems. The template is formulated as a meta-UoL which can be interpreted by IMS Learning Designplayers. This template serves as a guide to flexibly select and edit the activities at runtime (on the fly).The meta-UoL has been used successfully by a practitioner so as to create a real-life example, withpositive and encouraging results

Towards reusability and tailorability in collaborative learning systems using IMS-LD and grid services

CSCL applications are complex distributed systems that posespecial requirements towards achieving success in educationalsettings. Flexible and efficient design of collaborative activitiesby educators is a key precondition in order to provide CSCL tailorable systems, capable of adapting to the needs of eachparticular learning environment. Furthermore, some parts ofthose CSCL systems should be reused as often as possible inorder to reduce development costs. In addition, it may be necessary to employ special hardware devices, computational resources that reside in other organizations, or even exceed thepossibilities of one specific organization. Therefore, theproposal of this paper is twofold: collecting collaborativelearning designs (scripting) provided by educators, based onwell-known best practices (collaborative learning flow patterns) in a standard way (IMS-LD) in order to guide the tailoring of CSCL systems by selecting and integrating reusable CSCL software units; and, implementing those units in the form of grid services offered by third party providers. More specifically, this paper outlines a grid-based CSCL system having these features and illustrates its potential scope and applicability by means of a sample collaborative learning scenario.

Reusing IMS-LD formalized best practices in collaborative learning structuring

Designs of CSCL (Computer Supported Collaborative Learning)activities should be flexible, effective and customizable toparticular learning situations. On the other hand, structureddesigns aim to create favourable conditions for learning. Thus,this paper proposes the collection of representative and broadlyaccepted (best practices) structuring techniques in collaborative learning. With the aim of establishing a conceptual common ground among collaborative learning practitioners and softwaredevelopers, and reusing the expertise that best practicesrepresent, the paper also proposes the formulation of these techniques as patterns: the so-called CLFPs (CollaborativeLearning Flow Patterns). To formalize these patterns, we havechosen the educational modelling language IMS Learning Design (IMS-LD). IMS-LD has the capability to specify many of the collaborative characteristics of the CLFPs. Nevertheless, the language bears limited capability for describing the services that mediate interactions within a learning activity and the specification of temporal or rotated roles. This analysis isdiscussed in the paper, as well as our approaches towards thedevelopment of a system capable of integrating tools using IMSLDscripts and a CLFP-based Learning Design authoring tool.

Integración de plantillas para la creación de soluciones de aprendizaje siguiendo los estándares IMS LD e IMS CP en LdShake

Des de fa alguns anys les tecnologies educatives han anat evolucionant y revolucionant el món pedagògic. En aquest sentit, son molts els grups de treball que participen en la investigació i producció de nous estàndards educatius. Alguns d’aquests estàndards son IMS Learning Designi IMS Content Packaging. L’adopció d’aquests estàndards per part de la comunitat educativa depèn en gran mesura de l’accessibilitat a les eines de producció per part dels membres d’aquesta comunitat. En aquest projecte es fa patent la necessitat d’una aplicació que permeti la generació d’unitats d’aprenentatge de forma assistida mitjançant plantilles.D’altre banda, ELGG és un sistema gestor de continguts open-source que permet crear xarxes socials de forma senzilla i amb la possibilitat d’afegir nous mòduls per augmentar així la seva funcionalitat. Per aquest motiu, aquest projecte es basa en la plataforma col·laborativa de recolzament als professors LdShake, utilitzada per la Universitat Pompeu Fabra (UPF), quetreballa sobre el Framework de ELGG.Sobre aquests dos conceptes descansa la idea general del projecte – a saber, el disseny iposterior desenvolupament d’un sistema de generació d’unitats d’aprenentatge basat enplantilles seguint els estàndards IMS LD i IMS CP sobre LdShake.Per tant, en aquest projecte ens hem centrat en el desenvolupament i avaluació preliminar d’un mòdul integrat en LdShake, centrat en el subconjunt necessari de característiques bàsiques dels estàndards de la IMS Global Consortium, que ens permet la generació d’unitats d’aprenentatge, així com la seva distribució i reproducció en sistemes de gestió d’aprenentatge o LMS, gràcies al’ús de plantilles que son en si mateixes una solució coneguda, provada i exitosa.