978 research outputs found

    The genetics of feto-placental development: A study of acid phosphatase locus 1 and adenosine deaminase polymorphisms in a consecutive series of newborn infants

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    <p>Abstract</p> <p>Background</p> <p>Acid phosphatase locus 1 and adenosine deaminase locus 1 polymorphisms show cooperative effects on glucose metabolism and immunological functions. The recent observation of cooperation between the two systems on susceptibility to repeated spontaneous miscarriage prompted us to search for possible interactional effects between these genes and the correlation between birth weight and placental weight. Deviation from a balanced development of the feto-placental unit has been found to be associated with perinatal morbidity and mortality and with cardiovascular diseases in adulthood.</p> <p>Methods</p> <p>We examined 400 consecutive newborns from the Caucasian population of Rome. Birth weight, placental weight, and gestational length were registered. Acid phosphatase locus 1 and adenosine deaminase locus 1 phenotypes were determined by starch gel electrophoresis and correlation analysis was performed by SPSS programs. Informed verbal consent to participate in the study was obtained from the mothers.</p> <p>Results</p> <p>Highly significant differences in birth weight-placental weight correlations were observed among acid phosphatase locus 1 phenotypes (p = 0.005). The correlation between birth weight and placental weight was markedly elevated in subjects carrying acid phosphatase locus 1 phenotypes with medium-low F isoform concentration (A, CA and CB phenotypes) compared to those carrying acid phosphatase locus 1 phenotypes with medium-high F isoform concentration (BA and B phenotypes) (p = 0.002). Environmental and developmental variables were found to exert a significant effect on birth weight-placental weight correlation in subjects with medium-high F isoform concentrations, but only a marginal effect was observed in those with medium-low F isoform concentrations. The correlation between birth weight and placental weight is higher among carriers of the adenosine deaminase locus 1 allele*2, which is associated with low activity, than in homozygous adenosine deaminase locus 1 phenotype 1 carriers (p = 0.04). The two systems show a cooperative effect on the correlation between birth weight and placental weight: the highest value is observed in newborns carrying adenosine deaminase locus 1 allele*2 and acid phosphatase locus 1 phenotypes with medium-low F isoform concentration (p = 0.005).</p> <p>Conclusion</p> <p>These data suggest that zygotes with low adenosine deaminase locus 1 activity and low F activity may experience the most favourable intrauterine conditions for a balanced development of the feto-placental unit.</p

    Smoking, haptoglobin and fertility in humans

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    A prospective study on two samples of consecutive puerperae (total n° 667) from two populations has been carried out in order to investigate the possible effect of smoking habit on relationship between fertility and haptoglobin phenotype

    Coronary Artery Disease: A Study on the Joint Role of Birth Weight, Adenosine Deaminase, and Gender

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    An inverse relationship between birth weight and coronary artery diseases is well documented but it remains unclear which exposure in early life might underlie such association. Recently it has been reported an association between adenosine deaminase genetic polymorphism and coronary artery diseases. Gender differences in the degree of this association have been also observed. These observations prompted us to study the possible joint effects of BW, ADA, and gender on the susceptibility to coronary artery diseases. 222 subjects admitted to hospital for nonfatal coronary artery diseases, and 762 healthy consecutive newborns were studied. ADA genotypes were determined by DNA analysis. A highly significant complex relationship has emerged among ADA, birth weight, and gender concerning their role on susceptibility to coronary artery diseases in adult life. Odds ratio analysis suggests that low birth weight is more important in females than in males. ADA∗2 allele appears protective in males, while in females such effect is obscured by birth weight

    Phosphotyrosine-protein-phosphatases and human reproduction: an association between low molecular weight acid phosphatase (ACP1) and spontaneous abortion.

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    ACP1 (low molecular weight acid phosphatase) genetic polymorphism has been studied in 173 women with a history of two or more consecutive spontaneous abortions and in 1508 control subjects, including 482 normal pregnant women. The proportion of carriers of ACP1 *C allele (* A/ *C, *B/*C) in women with a history of repeated spontaneous abortion is lower than in normal pregnant women and other control groups, Women with repeated spontaneous abortion show a specific decrease of ACPI S isoform concentration as compared to normal pregnant women, The other component of ACP I activity, the F isoform, does not show a significant difference between the two groups. The data suggest that women with ACP1 genotypes showing a high concentration of S isoform are relatively 'protected' against spontaneous abortion, Preliminary analysis of a sample of 352 normal puerperae along with their newborn babies supports this hypothesis

    Relationships in Patagonian species of Berberis (Berberidaceae) based on the characterization of rDNA internal transcribed spacer sequences

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    Sequence analysis of the internal transcribed spacer (ITS) of the 18S(ITS1)-5.8S 26S(ITS2) rDNA region was performed in order to analyse the phylogenetic relationships between 13 Patagonian species of the genus Berberis (Berberidaceae). The divergence values between the pairwise sequence in the studied Patagonian species were in the range 2.9–22.9%. The lengths of the ITS1 and ITS2 sequences were in the range 227–231 bp and 220–224 bp, respectively, and the 5.8S sequence was 159 bp throughout all species. B. microphylla sensu Landrum does not appear to be monophyletic based on current sampling. Indeed, we suggest that B. microphylla should be distinguished from B. buxifolia, B. parodii, and B. heterophylla . ITS sequences, together with data obtained from morphological, biochemical, amplified fragment length polymorphism, and cytological characterizations, support the existence of diploid and polyploid hybrid speciation in the genus.Fil: Bottini, Maria Cecilia Juana. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Austral de Chile; ChileFil: de Bustos, A.. Universidad de Alcalá; EspañaFil: Sanso, Andrea Mariel. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Veterinarias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Jouve, N.. Universidad de Alcalá; EspañaFil: Poggio, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional del Centro de la Provincia de Buenos Aires. Facultad de Ciencias Veterinarias; Argentin

    Using Virtual Reality to Rehabilitate Neglect

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    Purpose: Virtual Reality (VR) platforms gained a lot of attention in the rehabilitation field due to their ability to engage patients and the opportunity they offer to use real world scenarios. As neglect is characterized by an impairment in exploring space that greatly affects daily living, VR could be a powerful tool compared to classical paper and pencil tasks and computer training. Nevertheless, available platforms are costly and obstructive. Here we describe a low cost platform for neglect rehabilitation, that using consumer equipments allows the patient to train at home in an intensive fashion. Method: We tested the platform on IB, a chronic neglect patient, who did not benefit from classical rehabilitation. Results: Our results show that IB improved both in terms of neglect and attention. Importantly, these ameliorations lasted at a follow up evaluation 5 months after the last treatment session and generalized to everyday life activities. Conclusions: VR platforms built using equipment technology and following theoretical principles on brain functioning may induce greater ameliorations in visuo-spatial deficits than classical paradigms possibly thanks to the real world scenarios in association with the "visual feedback" of the patient's own body operating in the virtual environmen

    A redshift survey towards the CMB Cold Spot

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    We have carried out a redshift survey using the VIMOS spectrograph on the VLT towards the Cosmic Microwave Background cold spot. A possible cause of the cold spot is the Integrated Sachs-Wolfe effect imprinted by an extremely large void (hundreds of Mpc in linear dimension) at intermediate or low redshifts. The redshift distribution of over seven hundred z<1 emission-line galaxies drawn from an I-band flux limited sample of galaxies in the direction of the cold spot shows no evidence of a gap on scales of Delta-z> 0.05 as would be expected if such a void existed at 0.35<z<1. There are troughs in the redshift distribution on smaller scales (Delta-z ~0.01) indicating that smaller scale voids may connect regions separated by several degrees towards the cold spot. A comparison of this distribution with that generated from similarly-sized subsamples drawn from widely-spaced pointings of the VVDS survey does not indicate that the redshift distribution towards the cold spot is anomalous or that these small gaps can be uniquely attributed to real voids.Comment: MNRAS in press, 6 page

    Transcriptome changes in grapevine (Vitis vinifera L.) cv. Malbec leaves induced by ultraviolet-B radiation

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    <p>Abstract</p> <p>Background</p> <p>Ultraviolet-B radiation (UV-B, 280-315 nm) is a natural component of sunlight, which has numerous regulatory effects on plant physiology. The nature of the response to UV-B is dependent on fluence rate, dose, duration and wavelength of the UV-B treatment. Some reports have analyzed the changes in gene expression caused by UV-B light on several plant species using microarray technology. However, there is no information on the transcriptome response triggered by UV-B in grapevine. In this paper we investigate the gene expression responses of leaves from <it>in vitro </it>cultured <it>Vitis vinifera </it>cv. Malbec plants subjected to the same dose of biologically effective UV-B radiation (4.75 kJ m<sup>-2 </sup>d<sup>-1</sup>) administered at two different fluence rates (16 h at ≅ 8.25 μW cm<sup>-2</sup>, 4 h at ≅ 33 μW cm<sup>-2</sup>) using a new custom made GrapeGen Affymetrix GeneChip<sup>®</sup>.</p> <p>Results</p> <p>The number of genes modulated by high fluence rate UV-B doubled the number of genes modulated by low fluence UV-B. Their functional analyses revealed several functional categories commonly regulated by both UV-B treatments as well as categories more specifically modulated depending on UV-B fluence rate. General protective responses, namely the induction of pathways regulating synthesis of UV-B absorbing compounds such as the Phenylpropanoid pathway, the induction of different antioxidant defense systems and the activation of pathways commonly associated with pathogen defense and abiotic stress responses seem to play critical roles in grapevine responses against UV-B radiation. Furthermore, high fluence rate UV-B seemed to specifically modulate additional pathways and processes in order to protect grapevine plantlets against UV-B-induced oxidative stress, stop the cell cycle progression, and control protein degradation. On the other hand, low fluence rate UV-B regulated the expression of specific responses in the metabolism of auxin and abscisic acid as well as in the modification of cell walls that could be involved in UV-B acclimation-like processes.</p> <p>Conclusion</p> <p>Our results show the UV-B radiation effects on the leaf transcriptome of grapevine (<it>Vitis vinifera </it>cv. Malbec) plantlets. Functional categories commonly modulated under both UV-B treatments as well as transcripts specifically regulated in an UV-B-intensity dependent way were identified. While high fluence rate UV-B had regulatory effects mainly on defense or general multiple-stress responses pathways, low fluence rate UV-B promoted the expression of genes that could be involved in UV-B protection or the amelioration of the UV-B-induced damage. This study also provides an extensive list of genes regulating multiple metabolic pathways involved in the response of grapevine to UV-B that can be used for future researches.</p
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