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Showing papers by "University of Palermo published in 2005"


Journal ArticleDOI
TL;DR: A causal link between deficient interferon-β, impaired apoptosis and increased virus replication is demonstrated, suggesting a novel use for type I interferons in the treatment or prevention of virus-induced asthma exacerbations.
Abstract: Rhinoviruses are the major trigger of acute asthma exacerbations and asthmatic subjects are more susceptible to these infections. To investigate the underlying mechanisms of this increased susceptibility, we examined virus replication and innate responses to rhinovirus (RV)-16 infection of primary bronchial epithelial cells from asthmatic and healthy control subjects. Viral RNA expression and late virus release into supernatant was increased 50- and 7-fold, respectively in asthmatic cells compared with healthy controls. Virus infection induced late cell lysis in asthmatic cells but not in normal cells. Examination of the early cellular response to infection revealed impairment of virus induced caspase 3/7 activity and of apoptotic responses in the asthmatic cultures. Inhibition of apoptosis in normal cultures resulted in enhanced viral yield, comparable to that seen in infected asthmatic cultures. Examination of early innate immune responses revealed profound impairment of virus-induced interferon-beta mRNA expression in asthmatic cultures and they produced >2.5 times less interferon-beta protein. In infected asthmatic cells, exogenous interferon-beta induced apoptosis and reduced virus replication, demonstrating a causal link between deficient interferon-beta, impaired apoptosis and increased virus replication. These data suggest a novel use for type I interferons in the treatment or prevention of virus-induced asthma exacerbations.

1,112 citations


Journal ArticleDOI
TL;DR: Asymmetric Incremental Sheet Forming has the potential to revolutionize sheet metal forming, making it accessible to all levels of manufacturing as discussed by the authors, and has been shown to be a state-of-the-art in sheet metal manufacturing.

973 citations


Journal ArticleDOI
TL;DR: A technique to filter out complex data sets by extracting a subgraph of representative links that is especially suitable for correlation-based graphs, giving filtered graphs that preserve the hierarchical organization of the minimum spanning tree but containing a larger amount of information in their internal structure.
Abstract: We introduce a technique to filter out complex data sets by extracting a subgraph of representative links. Such a filtering can be tuned up to any desired level by controlling the genus of the resulting graph. We show that this technique is especially suitable for correlation-based graphs, giving filtered graphs that preserve the hierarchical organization of the minimum spanning tree but containing a larger amount of information in their internal structure. In particular in the case of planar filtered graphs (genus equal to 0), triangular loops and four-element cliques are formed. The application of this filtering procedure to 100 stocks in the U.S. equity markets shows that such loops and cliques have important and significant relationships with the market structure and properties.

757 citations


Journal ArticleDOI
TL;DR: This review focuses on recent works analysing the relationship between the structure of olive oil polyphenolic compounds and their antioxidant activity, which is related to the development of atherosclerosis and cancer, and to anti-inflammatory and antimicrobial activity.
Abstract: The Mediterranean diet is rich in vegetables, cereals, fruit, fish, milk, wine and olive oil and has salutary biological functions. Epidemiological studies have shown a lower incidence of atherosclerosis, cardiovascular diseases and certain kinds of cancer in the Mediterranean area. Olive oil is the main source of fat, and the Mediterranean diet's healthy effects can in particular be attributed not only to the high relationship between unsaturated and saturated fatty acids in olive oil but also to the antioxidant property of its phenolic compounds. The main phenolic compounds, hydroxytyrosol and oleuropein, which give extra-virgin olive oil its bitter, pungent taste, have powerful antioxidant activity both in vivo and in vitro. The present review focuses on recent works analysing the relationship between the structure of olive oil polyphenolic compounds and their antioxidant activity. These compounds' possible beneficial effects are due to their antioxidant activity, which is related to the development of atherosclerosis and cancer, and to anti-inflammatory and antimicrobial activity.

571 citations


Journal ArticleDOI
TL;DR: The Chandra Orion Ultradeep Project (COUP) provides the most comprehensive data set ever acquired on the X-rayemission of pre-main-sequencestars.
Abstract: The Chandra Orion Ultradeep Project (COUP) provides the most comprehensive data set ever acquired on the X-rayemissionofpre–main-sequencestars.Inthispaper,westudythenearly600X-raysourcesthatcanbereliably identified with optically well-characterized T Tauri stars (TTSs) in the Orion Nebula Cluster. With a detection limit of LX; min � 10 27:3 ergs s � 1 for lightly absorbed sources, we detect X-ray emission from more than 97% of the optically visible late-type (spectral types F–M) cluster stars. This proves that there is no ‘‘X-ray–quiet’’ population of late-type stars with suppressed magnetic activity. We use this exceptional optical, infrared, and X-ray data set tostudythe dependenciesoftheX-rayproperties onotherstellarparameters. AllTTSs withknownrotationperiods lie in the saturated or supersaturated regime of the relation between activity and Rossby numbers seen for mainsequence (MS) stars, but the TTSs show a much larger scatter in X-ray activity than that seen for the MS stars. Strong near-linear relations between X-ray luminosities, bolometric luminosities, and mass are present. We also

568 citations



Journal ArticleDOI
TL;DR: Low responder genotypes involved in regulation of innate defence mechanisms, might better control inflammatory responses and age-related disease development, resulting in an increased chance of long life survival in a "permissive" environment with reduced pathogen load, medical care and increased quality of life.
Abstract: The process of maintaining life for the individual is a constant struggle to preserve his/her integrity. This can come at a price when immunity is involved, namely systemic inflammation. Inflammation is not per se a negative phenomenon: it is the response of the immune system to the invasion of viruses or bacteria and other pathogens. During evolution the human organism was set to live 40 or 50 years; today, however, the immune system must remain active for much a longer time. This very long activity leads to a chronic inflammation that slowly but inexorably damages one or several organs: this is a typical phenomenon linked to ageing and it is considered the major risk factor for age-related chronic diseases. Alzheimer's disease, atherosclerosis, diabetes and even sarcopenia and cancer, just to mention a few – have an important inflammatory component, though disease progression seems also dependent on the genetic background of individuals. Emerging evidence suggests that pro-inflammatory genotypes are related to unsuccessful ageing, and, reciprocally, controlling inflammatory status may allow a better chance of successful ageing. In other words, age-related diseases are "the price we pay" for a life-long active immune system: this system has also the potential to harm us later, as its fine tuning becomes compromised. Our immune system has evolved to control pathogens, so pro-inflammatory responses are likely to be evolutionarily programmed to resist fatal infections with pathogens aggressively. Thus, inflammatory genotypes are an important and necessary part of the normal host responses to pathogens in early life, but the overproduction of inflammatory molecules might also cause immune-related inflammatory diseases and eventually death later. Therefore, low responder genotypes involved in regulation of innate defence mechanisms, might better control inflammatory responses and age-related disease development, resulting in an increased chance of long life survival in a "permissive" environment with reduced pathogen load, medical care and increased quality of life.

441 citations


MonographDOI
01 Nov 2005
TL;DR: Polynomial identities and PI-algebras $S_n$-representations Group gradings and group actions Codimension and colength growth Matrix invariants and central polynomials The PI-exponent of an algebra Polynomial growth and low PIexponent Classifying minimal varieties Computing the exponent of a polynomial.
Abstract: Polynomial identities and PI-algebras $S_n$-representations Group gradings and group actions Codimension and colength growth Matrix invariants and central polynomials The PI-exponent of an algebra Polynomial growth and low PI-exponent Classifying minimal varieties Computing the exponent of a polynomial $G$-identities and $G\wr S_n$-action Superalgebras, *-algebras and codimension growth Lie algebras and nonassociative algebras The generalized-six-square theorem Bibliography Index.

433 citations



Journal ArticleDOI
TL;DR: Analysis of TP53 mutations from a large cohort of CRC patients has identified tumor site, type of mutation, and adjuvant treatment as important factors in determining the prognostic significance of this genetic alteration.
Abstract: Purpose The aims of the TP53 Colorectal Cancer (CRC) International Collaborative Study were to evaluate the possible associations between specific TP53 mutations and tumor site, and to evaluate the prognostic and predictive significance of these mutations in different site, stage, and treatment subgroups. Patients and Methods A total of 3,583 CRC patients from 25 different research groups in 17 countries were recruited to the study. Patients were divided into three groups according to site of the primary tumor. TP53 mutational analyses spanned exons 4 to 8. Results TP53 mutations were found in 34% of the proximal colon tumors and in 45% of the distal colon and rectal tumors. They were associated with lymphatic invasion in proximal tumors. In distal colon tumors, deletions causing loss of amino acids were associated with worse survival. In proximal colon tumors, mutations in exon 5 showed a trend toward statistical significance (P < .05) when overall survival was considered. Dukes' C tumors with wild-type ...

388 citations


Journal ArticleDOI
TL;DR: The hypothesis that the manner in which CMV and the host immune system interact is critical in determining the IRP and hence is predictive of mortality is supported and it is suggested that immunosenescence is contagious.
Abstract: Morbidity and mortality due to infectious disease is greater in the elderly than in the young, at least partly because of age-associated decreased immune competence, which renders individuals more susceptible to pathogens. This susceptibility is particularly evident for novel infectious agents such as in severe acute respiratory syndrome but is also all too apparent for common pathogens such as influenza. Many years ago, it was noted that the elderly possessed oligoclonal expansions of T cells, especially of CD8(+) cells. At the same time, it was established that cytomegalovirus (CMV) seropositivity was associated with many of the same phenotypic and functional alterations to T-cell immunity that were being reported as biomarkers associated with aging. It was discovered that CMV was the prime driving force behind most of the oligoclonal expansions and altered phenotypes and functions of CD8 cells. Independently, longitudinal studies of a free-living population of the very old in Sweden over the past decade have led to the emerging concept of an 'immune risk phenotype' (IRP), predicting mortality, which was itself found to be associated with CMV seropositivity. These findings support our hypothesis that the manner in which CMV and the host immune system interact is critical in determining the IRP and hence is predictive of mortality. In this sense, then, we suggest that immunosenescence is contagious.

Journal ArticleDOI
TL;DR: The hepatic cancer HA22T/VGH cell line was chosen as a model to examine the antitumor activity of curcumin, also in relationship to its possible influences on the activation of the transcription factor and on the expression of the inhibitory of apoptosis proteins (IAPs) and of other NF-kB target genes.

Journal ArticleDOI
TL;DR: This letter presents a new approach to evaluate the throughput/delay performance of the 802.11 distributed coordination function (DCF) that relies on elementary conditional probability arguments rather than bidimensional Markov chains and can be easily extended to account for backoff operation more general than DCF's one.
Abstract: This letter presents a new approach to evaluate the throughput/delay performance of the 802.11 distributed coordination function (DCF). Our approach relies on elementary conditional probability arguments rather than bidimensional Markov chains (as proposed in previous models) and can be easily extended to account for backoff operation more general than DCF's one.

Journal ArticleDOI
24 Feb 2005-Nature
TL;DR: Although the strength of the U2 bond is comparable to that of other multiple bonds between transition metals, the bonding pattern is unique, and the molecule contains three electron-pair bonds and four one-electron bonds, and two ferromagnetically coupled electrons localized on one U atom each—so all known covalent bonding types are contributing.
Abstract: Covalent bonding is commonly described by Lewis's theory1, with an electron pair shared between two atoms constituting one full bond. Beginning with the valence bond description2 for the hydrogen molecule, quantum chemists have further explored the fundamental nature of the chemical bond for atoms throughout the periodic table, confirming that most molecules are indeed held together by one electron pair for each bond. But more complex binding may occur when large numbers of atomic orbitals can participate in bond formation. Such behaviour is common with transition metals. When involving heavy actinide elements, metal–metal bonds might prove particularly complicated. To date, evidence for actinide–actinide bonds is restricted to the matrix-isolation3 of uranium hydrides, including H2U–UH2, and the gas-phase detection4 and preliminary theoretical study5 of the uranium molecule, U2. Here we report quantum chemical calculations on U2, showing that, although the strength of the U2 bond is comparable to that of other multiple bonds between transition metals, the bonding pattern is unique. We find that the molecule contains three electron-pair bonds and four one-electron bonds (that is, 10 bonding electrons, corresponding to a quintuple bond), and two ferromagnetically coupled electrons localized on one U atom each—so all known covalent bonding types are contributing.

01 Jan 2005
TL;DR: In this article, the authors investigate the role of water resources and water scarcity in the context of international trade and run five alternative scenarios, analyzing the effects of water scarcity due to reduced availability of groundwater.
Abstract: Water problems are typically studied at the level of the river catchment. About 70% of all water is used for agriculture, and agricultural products are traded internationally. A full understanding of water use is impossible without understanding the international market for food and related products, such as textiles. The water embedded in commodities is called virtual water. Based on a general equilibrium model, we offer a method for investigating the role of water resources and water scarcity in the context of international trade. We run five alternative scenarios, analyzing the effects of water scarcity due to reduced availability of groundwater. This can be a consequence of physical constraints, and of policies curbing water demand. Four scenarios are based on a “market solution”, where water owners can capitalize their water rent or taxes are recycled. In the fifth “non-market” scenario, this is not the case; supply restrictions imply productivity losses. Restrictions in water supply would shift trade patterns of agriculture and virtual water. These shifts are larger if the restriction is larger, and if the use of water in production is more rigid. Welfare losses are substantially larger in the non-market situation. Water-constrained agricultural producers lose, but unconstrained agricultural produces gain; industry gains as well. As a result, there are regional winners and losers from water supply constraints. Because of the current distortions of agricultural markets, water supply constraints could improve allocative efficiency; this welfare gain may more than offset the welfare losses due to the resource constraint.

Journal ArticleDOI
TL;DR: In three ex vivo specimens of left coronary arteries in oil, MSCT was performed after intracoronary injection of four solutions of contrast material, which modifies significantly the attenuation of plaques assessed with MSCT.
Abstract: Assessment of attenuation (measured in Hounsfield units, HU) of human coronary plaques was performed using multislice computed tomography (MSCT) in an ex vivo model. In three ex vivo specimens of left coronary arteries in oil, MSCT was performed after intracoronary injection of four solutions of contrast material (400 mgI/ml iomeprol). The four solutions were diluted as follows: 1/infinity, 1/200, 1/80, and 1/20. All scans were performed with the following parameters: slices/collimation 16/0.75 mm, rotation time 375 ms. Each specimen was scored for the presence of atherosclerotic plaques. In each plaque the attenuation was measured in four regions of interest for lumen, plaque (non-calcified thickening of the vessel wall), calcium, and surrounding (oil surrounding the vessel). The results were compared with a one-way analysis of variance test and were correlated with Pearson's test. There were no significant differences in the attenuation of calcium and oil in the four solutions. The mean attenuation in the four solutions for lumen (35+/-10, 91+/-7, 246+/-18, 511+/-89 HU) and plaque (22+/-22, 50+/-26, 107+/-36, 152+/-67 HU) was significantly different between each decreasing dilution (p<0.001). The mean attenuation of lumen and plaque of coronary plaques showed high correlation, while the values were significantly different (r=0.73; p<0.001). Intracoronary attenuation modifies significantly the attenuation of plaques assessed with MSCT.

Journal ArticleDOI
TL;DR: It is suggested that the presence of small gold particles, as obtained by the SMAD technique, is not the main requisite for the achievement of the highest CO conversion, and the strong interaction between ionic gold and ceria, by enhancing the ceria surface oxygen reducibility, may determine the particularly high activity.
Abstract: Gold catalysts supported on cerium oxide were prepared by solvated metal atom dispersion (SMAD), by deposition-precipitation (DP), and by coprecipitation (CP) methods and were characterized by X-ray diffraction (XRD), temperature programmed reduction (TPR), and X-ray photoelectron spectroscopy (XPS). The catalytic activity was tested in the CO oxidation reaction. The structural and surface analyses evidenced the presence of a modified ceria phase in the case of the DP sample and the presence of pure ceria and gold metal crystallites in the case of the SMAD and CP samples. The DP sample, after a mild treatment in air at 393 K, exhibited only ionic gold, and it was very active below 273 K. By comparing the activities of the different catalysts, it is suggested that the presence of small gold particles, as obtained by the SMAD technique, is not the main requisite for the achievement of the highest CO conversion. The strong interaction between ionic gold and ceria, by enhancing the ceria surface oxygen reducibility, may determine the particularly high activity.

Journal ArticleDOI
TL;DR: It is suggested that among hyperandrogenic women the prevalence of abnormal metabolic and cardiovascular risk parameters is greatest in C- PCOS, followed by OV-PCOS and then women with IHA, and the finding of polycystic ovaries may be a significant modifying factor.
Abstract: In hyperandrogenic women, several phenotypes may be observed. This includes women with classic polycystic ovary syndrome (C-PCOS), those with ovulatory (OV) PCOS, and women with idiopathic hyperandrogenism (IHA), which occurs in women with normal ovaries. Where other causes have been excluded, we categorized 290 hyperandrogenic women who were seen consecutively for this complaint between 1993 and 2004 into these three subgroups. The aim was to compare the prevalence of obesity, insulin resistance, and dyslipidemia as well as increases in C-reactive protein and homocysteine in these different phenotypes with age-matched ovulatory controls of normal weight (n = 85) and others matched for body mass index (BMI) with women with C-PCOS (n = 42). Although BMI affected fasting serum insulin and the Quantitative Insulin-Sensitivity Check Index, these markers of insulin resistance were greatest in C-PCOS (n = 204), followed by OV-PCOS (n = 50) and then IHA (n = 33). Androgen levels were similar in OV-PCOS and IHA but were higher in C-PCOS, whereas gonadotropins were similar in all groups. Lipid abnormalities were highest in C-PCOS and OV-PCOS and were normal in IHA. C-reactive protein was elevated in C-PCOS and OV-PCOS but not IHA. Homocysteine was elevated only in C-PCOS. Overall, the prevalence of obesity (BMI > 30) was 29% in C-PCOS, 8% in OV-PCOS, and 15% in IHA and insulin resistance (Quantitative Insulin-Sensitivity Check Index < 0.33) was 68% in C-PCOS, 36% in OV-PCOS, and 26% in IHA. The prevalence of having at least one elevated cardiovascular risk marker was 45% in C-PCOS 38% in OV-PCOS and was not increased on IHA (6%). These results suggest that among hyperandrogenic women the prevalence of abnormal metabolic and cardiovascular risk parameters is greatest in C-PCOS, followed by OV-PCOS and then women with IHA. Moreover, in that in OV-PCOS and IHA, ages and weights were similar yet the prevalence of metabolic and cardiovascular risk was greater in OV-PCOS, the finding of polycystic ovaries may be a significant modifying factor.

Journal ArticleDOI
TL;DR: Six-month metformin administration is significantly more effective than six-cycle CC treatment in improving fertility in anovulatory nonobese PCOS women.
Abstract: Context: Although metformin has been shown to be effective in the treatment of anovulation in women with polycystic ovary syndrome (PCOS), clomiphene citrate (CC) is still considered to be the first-line drug to induce ovulation in these patients. Objective: The goal of this study was to compare the effectiveness of metformin and CC administration as a first-line treatment in anovulatory women with PCOS. Design: We describe a prospective parallel randomized, double-blind, double-dummy controlled clinical trial. Setting: The study was conducted at the University “Magna Graecia” of Catanzaro, Catanzaro, Italy. Patients: One hundred nonobese primary infertile anovulatory women with PCOS participated. Interventions: We administered metformin cloridrate (850 mg twice daily) plus placebo (group A) or placebo plus CC (150 mg for 5 d from the third day of a progesterone withdrawal bleeding) (group B) for 6 months each. Mean outcome measures: The main outcome measures were ovulation, pregnancy, abortion, and live-...

Journal ArticleDOI
TL;DR: A new loss minimization control algorithm for inverter-fed permanent-magnet synchronous motors (PMSMs), which allows for the reduction of the power losses of the electric drive without penalty on its dynamic performance, is analyzed, experimentally realized, and validated.
Abstract: In this paper, a new loss minimization control algorithm for inverter-fed permanent-magnet synchronous motors (PMSMs), which allows for the reduction of the power losses of the electric drive without penalty on its dynamic performance, is analyzed, experimentally realized, and validated. In particular, after a brief recounting of two loss minimization control strategies, namely, the "search control" and the "loss-model control," both a new modified dynamic model of the PMSM (which takes into account the iron losses) and an innovative "loss-model" control strategy are presented. Experimental tests on a specific PMSM drive employing the proposed loss minimization algorithm have been performed, aiming to validate the actual implementation. The main results of these tests confirm that the dynamic performance of the drive is maintained, and in small motors enhancement up to 3.5% of the efficiency can be reached in comparison with the PMSM drive equipped with a more traditional control strategy.

Journal ArticleDOI
TL;DR: In this paper, the authors used the crocin bleaching inhibition assay to identify the antioxidant or pro-oxidant behaviors of common flavanones and to determine their activity-structure relationships as antioxidant using the Crocin bleach inhibition assay.

Journal ArticleDOI
TL;DR: In this article, a stochastic SIR model with or without distributed time delay is proposed and the stability of disease-free equilibrium is studied. But, the model is not suitable for the case where the introduction of noise modifies the threshold for an epidemic to occur.
Abstract: We propose a stochastic SIR model with or without distributed time delay and we study the stability of disease-free equilibrium. The numerical simulation of the stochastic SIR model shows that the introduction of noise modifies the threshold of system for an epidemic to occur and the threshold stochastic value is found.

Journal ArticleDOI
TL;DR: The combination of sympathetic predominance, vagal withdrawal, and blunted baroreflex sensitivity might represent a treatable mechanistic link between psychosocial factors and future incidence of hypertension.
Abstract: Elevated psychosocial stress might favor the occurrence of cardiovascular disease; however, mechanisms are incompletely understood. We hypothesized that patients (n126; 441 years of age) referred to an internal medicine clinic because of symptoms related to chronic psychosocial stress would demonstrate signs of autonomic dysregulation compared with controls (n132; 421 years of age). We used autoregressive spectral analysis of RR interval variability to obtain indirect markers of sympathetic and of vagal (respectively, low-frequency and high-frequency components, both expressed in normalized units) oscillatory modulation of sinoatrial node, as well as of sympathetic vasomotor regulation (low-frequency component of systolic arterial pressure variability) and of cardiac baroreflex sensitivity (-index). Higher values of systolic and diastolic arterial pressure (respectively, 1241 versus 117 1m m Hg and 801 versus 751 mm Hg; both P0.001), altered markers of autonomic regulation (increased normalized low-frequency and reduced high-frequency component of RR variability, P0.005; increased-low frequency component of systolic arterial pressure variability, P0.002), and reduced baroreflex sensitivity (19.31.4 versus 23.02.0 ms/mm Hg; P0.05) were observed in patients compared with controls. Autonomic responses to active standing were also blunted in stressed patients. Autonomic markers were significantly correlated to stress perception score and were capable of discriminating between controls and patients with a high degree of accuracy. Chronic real-life stress in humans appears associated to increased arterial pressure and to impaired autonomic regulation of cardiovascular functions. The combination of sympathetic predominance, vagal withdrawal, and blunted baroreflex sensitivity might represent a treatable mechanistic link between psychosocial factors and future incidence of hypertension. (Hypertension. 2005;46:1201-1206.)

Journal ArticleDOI
01 Oct 2005-Allergy
TL;DR: There would be advantages in harmonizing the standard panels of allergens used in different European countries, both for clinical purposes and for research, especially with increasing mobility within Europe and current trends in botany and agriculture, as well as improving diagnostic accuracy.
Abstract: Skin prick testing (SPT) is the standard method for diagnosing allergic sensitization but is to some extent performed differently in clinical centres across Europe. There would be advantages in harmonizing the standard panels of allergens used in different European countries, both for clinical purposes and for research, especially with increasing mobility within Europe and current trends in botany and agriculture. As well as improving diagnostic accuracy, this would allow better comparison of research findings in European allergy centres. We have compared the different SPT procedures operating in 29 allergy centres within the Global Allergy and Asthma European Network (GA(2)LEN). Standard SPT is performed similarly in all centres, e.g. using commercial extracts, evaluation after 15-20 min exposure with positive results defined as a wheal >3 mm diameter. The perennial allergens included in the standard SPT panel of inhalant allergens are largely similar (e.g. cat: pricked in all centres; dog: 26 of 29 centres and Dermatophagoides pteronyssinus: 28 of 29 centres) but the choice of pollen allergens vary considerably, reflecting different exposure and sensitization rates for regional inhalant allergens. This overview may serve as reference for the practising doctor and suggests a GA(2)LEN Pan-European core SPT panel.

Journal ArticleDOI
TL;DR: In this paper, a life cycle assessment of a solar thermal collector for sanitary warm water demand has been performed following the international standards of series ISO 14040, where the following phases have been investigated: production and deliver of energy and raw materials, production process, installation, maintenance, disposal and transports occurring during each step.

Journal ArticleDOI
TL;DR: CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent, and mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achrom atopsia.
Abstract: Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.

Journal ArticleDOI
TL;DR: Data indicate that polymorphisms of these genes likely contribute to human longevity, in accord with observations emerging from a variety of animal models, and suggest that a common core of master genes and metabolic pathways are responsible for aging and longevity across animal species.

Posted Content
TL;DR: It is shown that the use of clustering algorithms can improve the reliability of the portfolio in terms of the ratio between predicted and realized risk.
Abstract: We consider the problem of the statistical uncertainty of the correlation matrix in the optimization of a financial portfolio. We show that the use of clustering algorithms can improve the reliability of the portfolio in terms of the ratio between predicted and realized risk. Bootstrap analysis indicates that this improvement is obtained in a wide range of the parameters N (number of assets) and T (investment horizon). The predicted and realized risk level and the relative portfolio composition of the selected portfolio for a given value of the portfolio return are also investigated for each considered filtering method.

Journal ArticleDOI
TL;DR: The data show that the HSS group reached dry weight more rapidly, a significantly faster reduction in BNP levels, shorter hospitalization stay, and lower incidence in readmissions in the 30-day study period.

Journal ArticleDOI
TL;DR: In this article, the X-ray properties of 20 O, B, and A stars of the Orion Trapezium were examined with data from the Chandra Orion Ultradeep Project (COUP).
Abstract: The X-ray properties of twenty ~1 Myr old O, B, and A stars of the Orion Trapezium are examined with data from the Chandra Orion Ultradeep Project (COUP). On the basis of simple theories for X-ray emission, we define two classes separated at spectral type B4: hotter stars have strong winds that may give rise to X-ray emission in small- or large-scale wind shocks, and cooler stars that should be X-ray dark due to their weaker winds and absence of outer convection zones where dynamos can generate magnetic fields. Emission by late-type magnetically active companions may be present in either class. Sixteen of the 20 stars are detected with a wide range of X-ray luminosities, log LX ~ 29-33, and X-ray efficiencies, log(LX/Lbol) ~ -4 to -8. Only two stars, ?1 Ori D (B0.5) and NU Ori (B1), show exclusively the constant soft-spectrum emission at log(LX/Lbol) ~ -7 expected from the standard model involving many small shocks in an unmagnetized radiatively accelerated wind. Most of the other massive O7-B3 stars exhibit some combination of soft-spectrum wind emission, hard-spectrum flaring, and/or rotational modulation indicating large-scale inhomogeneity. Magnetic confinement of winds with large-scale shocks can be invoked to explain these phenomena. This is supported in some cases by nonthermal radio emission and/or chemical peculiarities, or direct detection of the magnetic field (?1 Ori C). Most of the stars in the weak-wind class exhibit X-ray flares and log LX < 31 ergs s-1, consistent with magnetic activity from known or unseen low-mass companions. In most cases, the X-ray spectra can be interpreted in terms of a two-temperature plasma model with a soft component of 3-10 MK and a hard component up to 40 MK. All nondetections belong to the weak-wind class. A group of stars exhibit hybrid properties?flarelike behavior superimposed on a constant component with log LX ~ 32 ergs s-1?which suggest both magnetic activity and wind emission.