Multi-site observations of Delta Scuti stars 7 Aql and 8 Aql (a new Delta Scuti variable): The twelfth STEPHI campaign in 2003

We present an analysis of the pulsation behaviour of the Delta Scuti stars 7 Aql (HD 174532) and 8 Aql (HD 174589) -- a new variable star -- observed in the framework of STEPHI XII campaign during 2003 June--July. 183 hours of high precision photometry were acquired by using four-channel photometers at three sites on three continents during 21 days. The light curves and amplitude spectra were obtained following a classical scheme of multi-channel photometry. Observations in different filters were also obtained and analyzed. Six and three frequencies have been unambiguously detected above a 99% confidence level in the range 0.090 mHz--0.300 mHz and 0.100 mHz-- 0.145 mHz in 7 Aql and 8 Aql respectively. A comparison of observed and theoretical frequencies shows that 7 Aql and 8 Aql may oscillate with p modes of low radial orders, typical among Delta Scuti stars. In terms of radial oscillations the range of 8 Aql goes from n=1 to n=3 while for 7 Aql the range spans from n=4 to n=7. Non-radial oscillations have to be present in both stars as well. The expected range of excited modes according to a non adiabatic analysis goes from n=1 to n=6 in both stars.Comment: 8 pages, 7 fugures, 5 tables, accepted for publication in Astronomical Journa

Finite-size scaling analysis of the distributions of pseudo-critical temperatures in spin glasses

Using the results of large scale numerical simulations we study the probability distribution of the pseudo critical temperature for the three-dimensional Edwards-Anderson Ising spin glass and for the fully connected Sherrington-Kirkpatrick model. We find that the behavior of our data is nicely described by straightforward finite-size scaling relations.Comment: 23 pages, 9 figures. Version accepted for publication in J. Stat. Mec

Sistemas de acceso venoso central (SAVC) en pacientes pediátricos. Experiencia de seis años

The need for an access to the venous system, in order to infuse chemotherapeutic treatments or parenteral nutrition, has increased the number of central venous access systems (CVAS) implanted in the past years. Between February 1985 and December 1990, 87 devices were implanted in 76 patients (from 11 months to 15 years of age), with a median function time of 349 days (range: 7 to 1887 days). The overall incidence of complications was 0.10 per 10 days of catheterization, with complication rates for infection and thrombosis of 0.02 and 0.03, respectively. Nineteen systems were removed because of complications and 11 because of completion of the treatment. Of the cases, 97.7% included a follow-up period. The present study confirms the advantages of these devices, with a long working life and a low complication rate, being a good alternative for chronically ill children requiring long-term and/or cyclic intravenous therapy

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy

PURPOSE: Proliferative vitreoretinopathy (PVR) is still the major cause of failure of retinal detachment (RD) surgery and although the risk for developing this complication is associated with some clinical characteristics, the correlation is far from absolute, raising the possibility of genetic susceptibility. The objective of this study was to analyze the genetic contribution to PVR in patients undergoing RD surgery, the Retina 4 Project. METHODS: A candidate gene association study was conducted in 2006 in a Spanish population of 450 patients suffering from primary rhegmatogenous RD. Replication was carried out in a larger population undergoing RD surgery at several European centers among 546 new patients. Single nucleotide polymorphism (SNP) of 30 genes known to be involved with inflammation were analyzed. For replication stage, those genes previously detected as significantly associated with PVR were genotyped. Distribution of allelic and haplotypic frequencies in case and control group were analyzed. Single and haplotypic analysis were assessed. The Rosenberg two-stage method was used to correct for single and multiple analyses. RESULTS: After correction for multiple comparisons, four genes were significantly associated with PVR: SMAD7 (P = 0.004), PIK3CG (P = 0.009), TNF locus (P = 0.0005), and TNFR2 (P = 0.019) In the European sample, replication was observed in SMAD7 (P = 0.047) and the TNF locus (P = 0.044). CONCLUSIONS: These results confirm the genetic contribution to PVR and the implication of SMAD7 and TNF locus in the development of PVR. This finding may have implications for understanding the mechanisms of PVR and could provide a potential new therapeutic target for PVR prophylaxis

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy

PURPOSE: Proliferative vitreoretinopathy (PVR) is still the major cause of failure of retinal detachment (RD) surgery and although the risk for developing this complication is associated with some clinical characteristics, the correlation is far from absolute, raising the possibility of genetic susceptibility. The objective of this study was to analyze the genetic contribution to PVR in patients undergoing RD surgery, the Retina 4 Project. METHODS: A candidate gene association study was conducted in 2006 in a Spanish population of 450 patients suffering from primary rhegmatogenous RD. Replication was carried out in a larger population undergoing RD surgery at several European centers among 546 new patients. Single nucleotide polymorphism (SNP) of 30 genes known to be involved with inflammation were analyzed. For replication stage, those genes previously detected as significantly associated with PVR were genotyped. Distribution of allelic and haplotypic frequencies in case and control group were analyzed. Single and haplotypic analysis were assessed. The Rosenberg two-stage method was used to correct for single and multiple analyses. RESULTS: After correction for multiple comparisons, four genes were significantly associated with PVR: SMAD7 (P = 0.004), PIK3CG (P = 0.009), TNF locus (P = 0.0005), and TNFR2 (P = 0.019) In the European sample, replication was observed in SMAD7 (P = 0.047) and the TNF locus (P = 0.044). CONCLUSIONS: These results confirm the genetic contribution to PVR and the implication of SMAD7 and TNF locus in the development of PVR. This finding may have implications for understanding the mechanisms of PVR and could provide a potential new therapeutic target for PVR prophylaxis

Microwave L-band (1730 MHz) accurately estimates the relative water content in poplar leaves. A comparison with a near infrared water index (R-1300/R-1450)

In this study the estimation of reflectivity at 1730 MHz (L-band), measured with a microwave digital cordless telephony (DCT) patch antenna, is presented as an easy-to-handle and non-destructive new method to assess the relative water content (RWC) of poplar leaves and filter discs at different levels of dehydration. The accuracy of this new method has been contrasted with the R-1300/R-1450 index, determined by a portable near infrared (NIR) spectrometer. The close correlations found between RWC and the reflectivity at a frequency of 1730 MHz, both for filters and leaves, indicate that microwave determinations are rather independent of the physical properties of the material analysed. On the contrary, the differences found between poplar leaves and leaf filters in the relationships established between RWC and the R-1300/R-1450 index demonstrate a strong influence of the properties of the material in NIR reflectance measurements, specifically as they relate to changes in leaf thickness during dehydration. It should be noted that the amount of energy received by the leaf for the microwave technique (0.1 mW) was much lower than that received for the measuring of the R-1300/R-1450 index (2.5 W). Moreover, R-square coefficients were higher for microwaves than for the R-1300/R-1450 index. The use of a technologically simple, low cost and portable device, based on a microwave DCT patch antenna, could yield a solid support for the development of a commercial apparatus enabling the determination of plant water status under field conditions.Este estudio ha sido parcialmente financiado por el proyecto INIA SUM2008–00004-C03–03 (Ministerio de Ciencia e Innovación). También se agradece el apoyo financiero del Gobierno de Aragón (grupo de investigación A54).Publishe

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Introduction: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. Methods: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303). In the NGS cohort we analyzed 20 additional minor or candidate genes, and applied a proprietary bioinformatics algorithm for detecting CNVs. Additionally, the rate and classification of TTN variants in HCM were compared with 427 patients without structural heart disease. Results: The percentage of patients with pathogenic/likely pathogenic (P/LP) variants in the main genes was 33.3%, without significant differences between the Sanger sequencing and NGS cohorts. The screening for 20 additional genes revealed LP variants in ACTC1, MYL2, MYL3, TNNC1, GLA and PRKAG2 in 12 patients. This approach resulted in more inconclusive tests (36.0% vs. 9.6%, p<0.001), mostly due to variants of unknown significance (VUS) in TTN. The detection rate of rare variants in TTN was not significantly different to that found in the group of patients without structural heart disease. In the NGS cohort, 4 patients (1.3%) had pathogenic CNVs: 2 deletions in MYBPC3 and 2 deletions involving the complete coding region of PLN. Conclusions: A small percentage of HCM cases without point mutations in the 5 main genes are explained by P/LP variants in minor or candidate genes and CNVs. Screening for variants in TTN in HCM patients drastically increases the number of inconclusive tests, and shows a rate of VUS that is similar to patients without structural heart disease, suggesting that this gene should not be analyzed for clinical purposes in HCM