Partial deletion 5p and partial duplication 5q due to paternal pericentric inversion

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCDuring the meiotic process, most of the structural balanced chromosome alterations will affect either the specific chromosome pairing, or the chromosome and cromatides segregation, due to the number and type of chiasmata of the chromosomes implicated in those balanced rearrangements. Thus, the major clinical significance for normal carriers is the risk of transmition to their offspring unbalanced derivative. Here we present a malformed newborn infant with an abnormal chromosome 5 consisting in a partial deletion 5p and a partial duplication 5q. This abnormal chromosome 5 was a recombinant chromosome derived from a large paternal pericentric inversion. The cytogenetic study of the family showed that there were some other members who were carriers of the same balanced inversion. The clinical features of this patient are a mixture of some anomalies clearly related to the 5p deletion or "Cri-du-Chat" syndrome, like the crying and facial appearance, together with other that are describe on patients with 5q duplication, like the cardiac malformation. Nevertheless, he also shows some congenital defects as preauricular tags and anal atresia that, as for as we know, have not been previously described in patients with a similar chromosomal alteration. A literature review was performed of the genes localize at the chromosome regions involve in the inversion, in an effort to establish a relation with the patient phenotype.N

A new patient with deletion of 10p and revision of the literature. Study of the genotype-phenotype correlation

Citogenética y Genética MolecularSince the first report by Elliott et al., in 1970, of a patient with partial deletion of the short arm of chromosome 10 (10p), at least 67 further cases have been reported, of which 44 were pure de novo deletions. Two syndromes have been associated with deletions of 10p: DiGeorge 2 syndrome (DGS2) and HDR (Hypothyroidism, sensorineural Deafness and Renal disease). DGS2 (so-named due to its similitude to DiGeorge syndrome) is characterised by congenital heart defects, dysmorphism, hypoplastic thymus with T-cell deficiency, and hypoparathyroidism with hypocalcemia. In 1984, Herve et al. published the first case that associated a deletion of 10p with a clinical picture of DiGeorge, and a critical region, of approximately 1 Mb, in 10p13-p14 was delineated in 1998 by Schuffenhauer et al. On the other hand, HDR syndrome was first described in 1977 by Barakat et al., and in 1997 the syndrome was associated with a deletion of 10p. The observation that such deletions in patients with HDR were outside the DGS2 critical region led to the discovery of a causal gene, GATA3 located in 10p14, which has an important role in embryonic development of the kidney, parathyroids and auditory system. Here we present a patient with a 10p deletion that includes both the DGS2 critical region and GATA3 gene. The propositus’ clinical picture includes facial dysmorphism, unilateral ptosis, unilateral renal agenesis and hypoacusia. We carried out a revision of the literature, as well as a comparative analysis of the clinical characteristics and the cytoband affected, with the aim of correlating the main manifestations with the region of 10p deleted. The results have shown an overlap of clinical features as well as a great variability of manifestations among patients with different 10p deletions. No correlation could be established between the deleted genes and clinical manifestations, thus suggesting the involvement of more complex molecular mechanisms.N

Assessment of prenatal exposure to tobacco smoke by cotinine in cord blood for the evaluation of smoking control policies in Spain

<p>Abstract</p> <p>Background</p> <p>Over the last few years a decreasing trend in smoking has occurred not only in the general population but also during pregnancy. Several countries have implemented laws requiring all enclosed workplace and public places to be free of second hand smoke (SHS). In Spain, legislation to reduce SHS was implemented in 2005. The present study examines the possible effect of this legislation on prenatal SHS exposure.</p> <p>Methods</p> <p>Mothers and newborns were recruited from 3 independent studies performed in Hospital del Mar (Barcelona) and approved by the local Ethics Committee: 415 participated in a study in 1996-1998, 283 in 2002-2004 and 207 in 2008. A standard questionnaire, including neonatal and sociodemographic variables,tobacco use and exposure during pregnancy, was completed at delivery for all the participants in the three study groups. Fetal exposure to tobacco was studied by measuring cotinine in cord blood by radioimmunoassay (RIA).</p> <p>Results</p> <p>32.8% of the pregnant women reported to smoke during pregnancy in 1996-1998, 25.9% in 2002-2004 and 34.1% in 2008. In the most recent group, the percentage of no prenatal SHS exposure (cord blood cotinine 0.2-1 ng/mL) showed an increase compared to the previous groups while the percentages of both: low (1.1-14 ng/mL) and very high (> 100 ng/mL) prenatal SHS exposure showed a decrease.</p> <p>Discussion</p> <p>The results of the three study periods (1996-2008) demonstrated a significant increase in the percentage of newborns free from SHS exposure and a decrease in the percentage of newborns exposed to SHS during pregnancy, especially at the very high levels of exposure. A significant maternal smoking habit was noted in this geographical area with particular emphasis on immigrant pregnant smoking women.</p> <p>Conclusions</p> <p>Our study indicates that there is a significant maternal smoking habit in this geographical area. Our recommendation is that campaigns against smoking should be directed more specifically towards pregnant women with particular emphasis on non-native pregnant smokers due to the highest prevalence of tobacco consumption in the immigrant women.</p

Description of atmospheric conditions at the Pierre auger observatory using the global data assimilation system (GDAS)

Atmospheric conditions at the site of a cosmic ray observatory must be known for reconstructing observed extensive air showers. The Global Data Assimilation System (GDAS) is a global atmospheric model predicated on meteorological measurements and numerical weather predictions. GDAS provides altitude-dependent profiles of the main state variables of the atmosphere like temperature, pressure, and humidity. The original data and their application to the air shower reconstruction of the Pierre Auger Observatory are described. By comparisons with radiosonde and weather station measurements obtained on-site in Malargüe and averaged monthly models, the utility of the GDAS data is shown. </p

Ultrahigh energy neutrinos at the Pierre Auger observatory

The observation of ultrahigh energy neutrinos (UHEνs) has become a priority in experimental astroparticle physics. UHEνs can be detected with a variety of techniques. In particular, neutrinos can interact in the atmosphere (downward-going ν) or in the Earth crust (Earth-skimming ν), producing air showers that can be observed with arrays of detectors at the ground. With the surface detector array of the Pierre Auger Observatory we can detect these types of cascades. The distinguishing signature for neutrino events is the presence of very inclined showers produced close to the ground (i.e., after having traversed a large amount of atmosphere). In this work we review the procedure and criteria established to search for UHEνs in the data collected with the ground array of the Pierre Auger Observatory. This includes Earth-skimming as well as downward-going neutrinos. No neutrino candidates have been found, which allows us to place competitive limits to the diffuse flux of UHEνs in the EeV range and above

Search for a correlation between the UHECRs measured by the Pierre Auger Observatory and the Telescope Array and the neutrino candidate events from IceCube

We have conducted three searches for correlations between ultra-high energy cosmic rays detected by the Telescope Array and the Pierre Auger Observatory, and high-energy neutrino candidate events from IceCube. Two cross-correlation analyses with UHECRs are done: one with 39 cascades from the IceCube `high-energy starting events' sample and the other with 16 high-energy `track events'. The angular separation between the arrival directions of neutrinos and UHECRs is scanned over. The same events are also used in a separate search using a maximum likelihood approach, after the neutrino arrival directions are stacked. To estimate the significance we assume UHECR magnetic deflections to be inversely proportional to their energy, with values 3◦, 6◦ and 9◦ at 100 EeV to allow for the uncertainties on the magnetic field strength and UHECR charge. A similar analysis is performed on stacked UHECR arrival directions and the IceCube sample of through-going muon track events which were optimized for neutrino point-source searches