Genetic studies of the Roma (Gypsies): a review

Background: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results: Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups.Conclusion: Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

Young infants' triangular communication with their parents in the context of maternal postpartum psychosis: Four case studies

With increasing data on the dynamics of normative couples as they transition to parenthood and become a triad, the need for greater understanding of the impact of parental psychopathology on this transition has become clear. The goal of the current article is to begin exploring this area that has received little attention to date, by describing case examples from a study of clinical families as they transitioned to parenthood. Four representative cases were selected from a pool of 13 mother-father-baby triads, for whom the mother had been hospitalized conjointly with her infant due to a psychotic episode during the postpartum period. The families were observed as part of a clinical consultation that included a semistructured play paradigm known as the Lausanne Trilogue Play (LTP; E. Fivaz-Depeursinge, & A. Corboz-Warnery, 1999). Interactions were scored using standardized measures as well as clinical impressions. All families from the clinical sample were noted to struggle and frequently failed to achieve the goals of play. The impact on the infants in terms of their developing sense of self as well as their defensive strategies in this context are discussed, with clinical implications explored.

Determining 241Pu in environmental samples: case studies in alpine soils.

A procedure was developed for determining 241Pu activity in environmental samples. This beta emitter isotope of plutonium was measured by ultra low level liquid scintillation, after several separation and purification steps that involved the use of a highly selective extraction chromatographic resin (Eichrom-TEVA). Due to the lack of reference material for 241Pu, the method was nevertheless validated using four IAEA reference sediments with information values for 241Pu. Next, the method was used to determine the 241Pu activity in alpine soils of Switzerland and France. The 241Pu/239,240Pu and 238Pu/239,240Pu activity ratios confirmed that Pu contamination in the tested alpine soils originated mainly from global fallout from nuclear weapon tests conducted in the fifties and sixties. Estimation of the date of the contamination, using the 241Pu/241Am age-dating method, further confirmed this origin. However, the 241Pu/241Am dating method was limited to samples where Pu-Am fractionation was insignificant. If any, the contribution of the Chernobyl accident is negligible.

The role of the Teaching Quality and Innovation Support Unit in the ICT Engineering Studies at Universitat Pompeu Fabra

One of the strategies of Universitat Pompeu Fabra to support Quality Learning has been the creation of Units for the Support of Teaching Quality and Innovation within each faculty. In the seminar we will present the role and activities of the Polytechnic School Unit in charge or coordinating the efforts towards quality learning in the Information and Communication Technologies (ICT) Engineering Studies. We will also discuss how these activities are informed to relevant academic stakeholders.

Tigecycline in combination with other antimicrobials: a review of in vitro, animal and case report studies.

Tigecycline has been investigated in combination with other antibacterials against a wide range of susceptible and multiresistant Gram-positive and Gram-negative bacteria. Combinations have been analysed in vitro, in animal models and in human case reports. In vitro, tigecycline combined with other antimicrobials produces primarily an indifferent response (neither synergy nor antagonism). Nevertheless, synergy occurred when tigecycline was combined with rifampicin against 64-100% of Enterococcus spp., Streptococcus pneumoniae, Enterobacter spp. and Brucella melitensis isolates. Combinations of tigecycline with amikacin also showed synergy for 40-100% of Enterobacter spp., Klebsiella pneumoniae, Proteus spp. and Stenotrophomonas maltophilia isolates. Moreover, bactericidal synergisms occurred with tigecycline plus amikacin against problematic Acinetobacter baumannii and Proteus vulgaris, and with colistin against K. pneumoniae. Data from animal experiments and case reports, although limited, displayed consistent beneficial activity of tigecycline in combination with other antibacterials against multiresistant organisms, including vancomycin against penicillin-resistant S. pneumoniae in experimental meningitis, gentamicin against Pseudomonas aeruginosa in experimental pneumonia, daptomycin against Enterococcus faecium endocarditis, and colistin against K. pneumoniae bacteraemia and P. aeruginosa osteomyelitis. Antagonism was extremely rare in vitro and was not reported in vivo. Thus, tigecycline may be combined with a second antimicrobial as part of a combination regimen.

Generalized linear and generalized additive models in studies of species distributions: setting the scene

An important statistical development of the last 30 years has been the advance in regression analysis provided by generalized linear models (GLMs) and generalized additive models (GAMs). Here we introduce a series of papers prepared within the framework of an international workshop entitled: Advances in GLMs/GAMs modeling: from species distribution to environmental management, held in Riederalp, Switzerland, 6-11 August 2001.We first discuss some general uses of statistical models in ecology, as well as provide a short review of several key examples of the use of GLMs and GAMs in ecological modeling efforts. We next present an overview of GLMs and GAMs, and discuss some of their related statistics used for predictor selection, model diagnostics, and evaluation. Included is a discussion of several new approaches applicable to GLMs and GAMs, such as ridge regression, an alternative to stepwise selection of predictors, and methods for the identification of interactions by a combined use of regression trees and several other approaches. We close with an overview of the papers and how we feel they advance our understanding of their application to ecological modeling.

Drug Utilization Studies and Data Registries in Primary Care.

This article reviews the methodology of the studies on drug utilization with particular emphasis on primary care. Population based studies of drug inappropriateness can be done with microdata from Health Electronic Records and e-prescriptions. Multilevel models estimate the influence of factors affecting the appropriateness of drug prescription at different hierarchical levels: patient, doctor, health care organization and regulatory environment. Work by the GIUMAP suggest that patient characteristics are the most important factor in the appropriateness of prescriptions with significant effects at the general practicioner level.

Genetic Studies in Cabo Verde Archipelago

Blood group of ABO and MN systems, hemoglobin and haptoglobin were studied among immigrants from Cabo Verde working in Portugal. The origin, admixture and differentiation of the of populations of the archipelago are discussed.