Conservation and co-option in developmental programmes: the importance of homology relationships

One of the surprising insights gained from research in evolutionary developmental biology (evo-devo) is that increasing diversity in body plans and morphology in organisms across animal phyla are not reflected in similarly dramatic changes at the level of gene composition of their genomes. For instance, simplicity at the tissue level of organization often contrasts with a high degree of genetic complexity. Also intriguing is the observation that the coding regions of several genes of invertebrates show high sequence similarity to those in humans. This lack of change (conservation) indicates that evolutionary novelties may arise more frequently through combinatorial processes, such as changes in gene regulation and the recruitment of novel genes into existing regulatory gene networks (co-option), and less often through adaptive evolutionary processes in the coding portions of a gene. As a consequence, it is of great interest to examine whether the widespread conservation of the genetic machinery implies the same developmental function in a last common ancestor, or whether homologous genes acquired new developmental roles in structures of independent phylogenetic origin. To distinguish between these two possibilities one must refer to current concepts of phylogeny reconstruction and carefully investigate homology relationships. Particularly problematic in terms of homology decisions is the use of gene expression patterns of a given structure. In the future, research on more organisms other than the typical model systems will be required since these can provide insights that are not easily obtained from comparisons among only a few distantly related model species

Информационные технологии в управлении интеллектуальным капиталом организации

The report examines how organization can use information technologies for management of intellectual capital

Behavioural and skill-based early interventions in children with autism spectrum disorders

Introduction: Autism spectrum disorders (ASD) comprise typical or infantile autism (Kanner syndrome), Asperger’s disorder and atypical autism or pervasive developmental disorder - not otherwise specified. The syndrome is characterized by deficits in (1) verbal and nonverbal communication, (2) reciprocal social interaction and (3) repetitive patterns of behaviour, interests and activities. Early behavioural interventions are based on learning theory and behaviour therapy. They take into account specific deficits in perception, emotional reactions, social interaction and communication. In Germany, these comprehensive models are not widely evaluated and implemented. Research questions: * What are the clinical effectiveness and safety of early behavioural or skills-based early interventions in autism compared to other interventions or to treatment as usual? * What are specific factors responsible for the effectiveness? * What are the cost-effectiveness and cost consequences of different early interventions in autism? * Which legal, social and ethical aspects are relevant with regard to the implementation of the respective interventions in persons with autism? Methods: Following a systematic review of the literature, controlled studies on early behavioural or skills-based interventions published since 2000 in English or German with children until the age of twelve are included and critically appraised. Studies must have at least ten participants per intervention group. Results: In total, 15 publications based on 14 studies, eight systematic reviews and one health economic study are included. Most studies evaluate early interventions based upon the Lovaas model (Early intensive behavioural treatment (EIBT), Applied behavioural analysis (ABA)). Other evaluate pragmatic interventions or interventions based on other theoretical models like specific parent interventions, responsive education and prelinguistic milieu teaching, joint attention, symbolic play, and picture exchange communication system. Behaviour analytic interventions referring to the Lovaas model remain the most empirically evaluated early interventions in autism. Preschool children with autism can achieve improvements in cognitive and functional domains when treated within behavioural interventions with a frequency of at least 20 hours per week. It is not clear which is the minimum duration of effective interventions, and which active components are necessary for the effectiveness. There was no high quality evidence for other comprehensive early interventions. The identified health economic study is not suitable to evaluate the cost-effectiveness or cost consequences of early interventions. No publications concerning legal, ethical or social aspects were identified. The financial situation of persons with autisms and their families will be improved through the implementation of the “Pflege-Weiterententwicklungsgesetz” (Pf-WG). Further questions concern the organisation of care and the legal representation of autistic patients. Ethical questions arise mainly in the context of the equal supply of care to each individual patient in all regions of the country and the situation of the caregivers. Discussion: There are only a few studies with high methodology evaluating early interventions in children with autism. Most studies have a short duration with a lack of blinded outcome assessment in many cases. The lack of high quality comparative studies does not allow answering questions of comparative effectiveness of early interventions in autism. It can be concluded that interventions referring to the Lovaas model seem to have the highest effectiveness. This seems to be especially true when they are run clinic-based. However, there was no solid evidence with regard to factors responsible for the effectiveness of programms according to the ABA model. With regard to communication improvement, a systematic parent training seems to be superior to treatment as usual where a mixture of therapeutic elements is used. As well for clinical and health economic studies there is a substantial problem of generalisability into the German context. The identified health economic study is not suitable to evaluate the cost-effectiveness or cost consequences of early interventions. Conclusion: Based on the available studies, there is no sufficient evidence for any of the evaluated behavioural early intervention programmes. Studies suggest that preschool children with autism in behavioural intervention programmes with a frequency of at least 20 hours per week can achieve improvements in cognitive and functional domains. There is no evidence that in a substantial portion of the children a normal development can be achieved by early interventions. Most research evidence is available for ABA. A minimal necessary intensity of interventions to achieve positive outcomes cannot be derived from literature. There are no valid statements possible as to cost-effectiveness or consequences of these interventions. Effective early interventions may reduce total autism costs in the long run. This may be achieved when the initial high treatment expenditures are more than compensated later if persons with this disorder have better social functioning

Next Generation Sequencing (NGS) von DNA: Mehr Informationen durch mehr Daten?

Next Generation Sequencing (NGS) ermöglicht als Hochdurchsatzverfahren die umfassende Analyse des menschlichen Genoms. Entwicklung und diagnostischer Einsatz des NGS sind aber mit bioinformatischen und ethischen Herausforderungen verbunden. Der Beitrag beschreibt die Methodik, erläutert Chancen und Herausforderungen und zeigt anhand der nicht-invasiven pränatalen Testung (NIPT) und eines klinischen Fallbeispiels aktuelle spezifische Anwendungen und Probleme des NGS auf

Clínqueres Pórtland Belíticos. Síntesis y Análisis Mineralógico

[EN] The quaternary system CaO-SiO2-Al2O3-Fe2O3 has been taken into account to design five compositions of belite Portland clinkers with belite (Ca2SiO4) contents ranging from 60 to 65 wt%, located in its primary phase field of crystallization. The synthesis of these belite clinkers has been studied by high temperature microscopy, dilatometry, differential thermal analysis and thermogravimetric analysis. As a result, the optimum clinkerization temperature has been established at 1360 ± 5ºC. The quantitative phase analyses of the clinkers were carried out by X-ray powder diffraction with the Rietveld methodology. The mineralogical composition depends on the initial dosages, on the highest temperature achieved and on the time of residence at this temperature. The reaction was completed at 1365ºC during 15 min (free CaO <0.5 wt%), in those conditions the β-belite form is stabilized and the harmful transformation β→γ is avoided.[ES] Teniendo en cuenta el sistema cuaternario CaO-SiO2-Al2O3-Fe2O3, se han diseñado cinco composiciones de clínqueres Pórtland belíticos, con contenidos del 60 y del 65% en peso de belita (Ca2SiO4), situadas en su campo primario de cristalización. La síntesis de estos clínqueres belíticos se ha estudiado “in situ” por microscopía de alta temperatura, dilatometría y análisis térmico diferencial y termogravimétrico. La temperatura óptima de clinquerización, determinada con estas técnicas, ha sido de 1360 ± 5ºC. Los análisis cuantitativos de los clínqueres se llevaron a cabo por difracción de rayos-X con la metodología Rietveld. Los porcentajes de las diferentes fases dependen de las dosificaciones iniciales, de la temperatura alcanzada y del tiempo de residencia a dicha temperatura. Se ha conseguido una reacción total (%CaO libre < 0.5% en peso) tratando a 1365ºC durante 15 min, en cuyas condiciones se estabiliza la forma β de la belita y se evita la transformación perjudicial β→γ.Peer reviewe

SNP array typing provides new insights in chromosomal nondisjunction

Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying trisomy 7 formation mechanisms. Results A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation

Not Fit for Hire: The United States and France on Weight Discrimination in Employment

Part I will examine past and present attitudes regarding obesity in US society and will discuss the employment challenges obese individuals face because of weight discrimination. Further, Part I will survey US statutory laws at the federal, state, and local levels that currently protect against particular instances of weight discrimination. In sum, this Part aims to provide the current legal and social landscape in the United States for protecting individuals against employment discrimination based on their weight. Part II will look at France’s cultural bias against obesity and its laws against physical appearance discrimination. Part II then will analyze French statutory law and legislative history. This Part will ground the discussion in cases that have arisen in French media involving physical appearance discrimination based on weight, including an investigation by France’s human rights watch institution, Le Défenseur des droits. Overall, this perspective on French law will form the foundation for analyzing the extent of protection that the United States may feasibly adopt to protect individuals against weight discrimination. Part III juxtaposes France’s laws prohibiting physical appearance discrimination with current US federal law to highlight the ways in which the United States falls short of its promise of equal protection for all by permitting employment discrimination based on an individual’s weight. This Part posits that US law may serve as a tool to catalyze important social change in the public’s perception of obesity, based on a similar shift in public perception that occurred in France following the adoption of its laws prohibiting physical appearance discrimination. Ultimately, this Note argues that the United States must act to eliminate the pervasive discrimination against obese individuals by passing national legislation making employment decisions based on weight unlawful

Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia.

peer reviewe