829 resultados para full-sib families
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BACKGROUND: Shared Decision Making (SDM) is increasingly advocated as a model for medical decision making. However, there is still low use of SDM in clinical practice. High impact factor journals might represent an efficient way for its dissemination. We aimed to identify and characterize publication trends of SDM in 15 high impact medical journals. METHODS: We selected the 15 general and internal medicine journals with the highest impact factor publishing original articles, letters and editorials. We retrieved publications from 1996 to 2011 through the full-text search function on each journal website and abstracted bibliometric data. We included publications of any type containing the phrase "shared decision making" or five other variants in their abstract or full text. These were referred to as SDM publications. A polynomial Poisson regression model with logarithmic link function was used to assess the evolution across the period of the number of SDM publications according to publication characteristics. RESULTS: We identified 1285 SDM publications out of 229,179 publications in 15 journals from 1996 to 2011. The absolute number of SDM publications by journal ranged from 2 to 273 over 16 years. SDM publications increased both in absolute and relative numbers per year, from 46 (0.32% relative to all publications from the 15 journals) in 1996 to 165 (1.17%) in 2011. This growth was exponential (P < 0.01). We found fewer research publications (465, 36.2% of all SDM publications) than non-research publications, which included non-systematic reviews, letters, and editorials. The increase of research publications across time was linear. Full-text search retrieved ten times more SDM publications than a similar PubMed search (1285 vs. 119 respectively). CONCLUSION: This review in full-text showed that SDM publications increased exponentially in major medical journals from 1996 to 2011. This growth might reflect an increased dissemination of the SDM concept to the medical community.
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A solution of (18)F was standardised with a 4pibeta-4pigamma coincidence counting system in which the beta detector is a one-inch diameter cylindrical UPS89 plastic scintillator, positioned at the bottom of a well-type 5''x5'' NaI(Tl) gamma-ray detector. Almost full detection efficiency-which was varied downwards electronically-was achieved in the beta-channel. Aliquots of this (18)F solution were also measured using 4pigamma NaI(Tl) integral counting and Monte Carlo calculated efficiencies as well as the CIEMAT-NIST method. Secondary measurements of the same solution were also performed with an IG11 ionisation chamber whose equivalent activity is traceable to the Système International de Référence through the contribution IRA-METAS made to it in 2001; IRA's degree of equivalence was found to be close to the key comparison reference value (KCRV). The (18)F activity predicted by this coincidence system agrees closely with the ionisation chamber measurement and is compatible within one standard deviation of the other primary measurements. This work demonstrates that our new coincidence system can standardise short-lived radionuclides used in nuclear medicine.
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Extended-spectrum β-lactamases (ESBLs) form a heterogeneous group that share the property of hydrolytic activity against the oxyimino-β-lactams while remaining susceptible to inhibition by β-lactamase inhibitors, such as clavulanic acid. From a clinical point of view, they are important because they confer resistance to penicillins, aztreonam, and cephalosporins, and ESBL-producing organisms are typically also resistant to aminoglycosides, trimethoprim-sulfamethoxazole, and quinolones [1]. Until recently, the main problem posed by ESBLs was related to nosocomial outbreaks caused by ESBL-producing Klebsiella species. These outbreaks are usually clonal, the strains are mainly spread through cross-transmission, and the risk factors are similar to those found for other multidrug-resistant nosocomial pathogens [2]. In Europe and the United States, most ESBL-producing Klebsiella isolates harbored enzymes belonging to the TEM and SHV families [3]. Detection of colonized patients by performing surveillance cultures within affected units, isolation precautions for colonized patients, and restriction of oxyimino-β-lactam use are frequently useful for the control of these outbreaks [1]. There is no evidence that hospital-acquired ESBL-producing klebsiellae are decreasing in importance—in fact, data from the Centers for Disease Control and Prevention show that 20.6% of Klebsiella pneumoniae isolates from United States intensive care units in 2003 were probable producers of ESBL [4]. This represented a 47% increase, compared with the preceding 5 years. However, during the last few years, an impressive increase in the number of ESBL-producing Escherichia coli (and, less frequently, other Enterobacteriaceae) is being described in several parts of the world [5–8]. This emergent phenomenon shows some differences from the problem posed by Klebsiella species; many of these ESBL-producing E. coli are isolated …
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Objective: The purpose of this study was to find loci for major depression via linkage analysis of a large sibling pair sample. Method: The authors conducted a genome-wide linkage analysis of 839 families consisting of 971 affected sibling pairs with severe recurrent major depression, comprising waves I and II of the Depression Network Study cohort. In addition to examining affected status, linkage analyses in the full data set were performed using diagnoses restricted by impairment severity, and association mapping of hits in a large case-control data set was attempted. Results: The authors identified genome-wide significant linkage to chromosome 3p25-26 when the diagnoses were restricted by severity, which was a maximum LOD score of 4.0 centered at the linkage marker D3S1515. The linkage signal identified was genome-wide significant after correction for the multiple phenotypes tested, although subsequent association mapping of the region in a genome-wide association study of a U.K. depression sample did not provide significant results. Conclusions: The authors report a genome-wide significant locus for depression that implicates genes that are highly plausible for involvement in the etiology of recurrent depression. Despite the fact that association mapping in the region was negative, the linkage finding was replicated by another group who found genome-wide-significant linkage for depression in the same region. This suggests that 3p25-26 is a new locus for severe recurrent depression. This represents the first report of a genome-wide significant locus for depression that also has an independent genome-wide significant replication.
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Traffic Engineering objective is to optimize network resource utilization. Although several works have been published about minimizing network resource utilization in MPLS networks, few of them have been focused in LSR label space reduction. This letter studies Asymmetric Merged Tunneling (AMT) as a new method for reducing the label space in MPLS network. The proposed method may be regarded as a combination of label merging (proposed in the MPLS architecture) and asymmetric tunneling (proposed recently in our previous works). Finally, simulation results are performed by comparing AMT with both ancestors. They show a great improvement in the label space reduction factor
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PURPOSE: To report the clinical and genetic study of patients with autosomal dominant aniridia. METHODS: We studied ten patients with aniridia from three families of Egyptian origin. All patients underwent full ophthalmologic, general and neurological examination, and blood drawing. Cerebral magnetic resonance imaging was performed in the index case of each family. Genomic DNA was prepared from venous leukocytes, and direct sequencing of all the exons and intron-exon junctions of the Paired Box gene 6 (PAX6) was performed after PCR amplification. Phenotype description, including ophthalmic and cerebral anomalies, mutation detection in PAX6 and phenotype-genotype correlation was acquired. RESULTS: Common features observed in the three families included absence of iris tissue, corneal pannus with different degrees of severity, and foveal hypoplasia with severely reduced visual acuity. In Families 2 and 3, additional findings, such as lens dislocation, lens opacities or polar cataract, and glaucoma, were observed. We identified two novel (c.170-174delTGGGC [p.L57fs17] and c.475delC [p.R159fs47]) and one known (c.718C>T [p.R240X]) PAX6 mutations in the affected members of the three families. Systemic and neurological examination was normal in all ten affected patients. Cerebral magnetic resonance imaging showed absence of the pineal gland in all three index patients. Severe hypoplasia of the brain anterior commissure was associated with the p.L57fs17 mutation, absence of the posterior commissure with p.R159fs47, and optic chiasma atrophy and almost complete agenesis of the corpus callosum with p.R240X. CONCLUSIONS: We identified two novel PAX6 mutations in families with severe aniridia. In addition to common phenotype of aniridia and despite normal neurological examination, absence of the pineal gland and interhemispheric brain anomalies were observed in all three index patients. The heterogeneity of PAX6 mutations and brain anomalies are highlighted. This report emphasizes the association between aniridia and brain anomalies with or without functional impact, such as neurodevelopment delay or auditory dysfunction.
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The hepatitis B virus (HBV) is among the leading causes of chronic hepatitis, cirrhosis and hepatocellular carcinoma. In Brazil, genotype A is the most frequent, followed by genotypes D and F. Genotypes B and C are found in Brazil exclusively among Asian patients and their descendants. The aim of this study was to sequence the entire HBV genome of a Caucasian patient infected with HBV/C2 and to infer the origin of the virus based on sequencing analysis. The sequence of this Brazilian isolate was grouped with four other sequences described in China. The sequence of this patient is the first complete genome of HBV/C2 reported in Brazil.
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Schistosoma mansoni is one of the three main causative agents of human schistosomiasis, a major health problem with a vast socio-economic impact. Recent advances in the proteomic analysis of schistosomes have revealed that peptidases are the main virulence factors involved in the pathogenesis of this disease. In this context, evolutionary studies can be applied to identify peptidase families that have been expanded in genomes over time in response to different selection pressures. Using a phylogenomic approach, we searched for expanded endopeptidase families in the S. mansoni predicted proteome with the aim of contributing to the knowledge of such enzymes as potential therapeutic targets. We found three endopeptidase families that comprise leishmanolysins (metallopeptidase M8 family), cercarial elastases (serine peptidase S1 family) and cathepsin D proteins (aspartic peptidase A1 family). Our results suggest that the Schistosoma members of these families originated from successive gene duplication events in the parasite lineage after its diversification from other metazoans. Overall, critical residues are conserved among the duplicated genes/proteins. Furthermore, each protein family displays a distinct evolutionary history. Altogether, this work provides an evolutionary view of three S. mansoni peptidase families, which allows for a deeper understanding of the genomic complexity and lineage-specific adaptations potentially related to the parasitic lifestyle.
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Introduction Music performance anxiety (MPA, often referred to as "stage fright") is one of the leading severe medical problems among musicians. For about 15-25% of musicians MPA is a serious problem. Particularly high levels of MPA are observed among music students. Musical performance can induce negative emotions, including anxiety, which in some individuals can approach extreme levels of terror and take the form of panic attack, impair the quality of the performance, lead to avoidance of performance situations, and consequently have debilitating effects on the career. Coping efforts used by musicians in their attempts to manage MPA, such as sedatives, alcohol, and β-blockers can have deleterious health side-effects. Music ranks high in the cultural and economic life of Switzerland. In ten university music schools, students from all around the world are educated to become professional musicians. Despite the importance of musical education in Switzerland, data concerning the phenomenon of MPA are largely lacking. Goal and Methods The main goal of this research was to survey the occurrence, experience, and management of MPA among full-time music students in French Swiss conservatories. A questionnaire was developed based on the literature and interviews with music students and teachers and distributed to all the students of the conservatories of Fribourg, Geneva, Lausanne, and Neuchâtel in the spring 2007. 194 students (61% women) returned the questionnaire. Results The size of the problem: MPA is a major problem for 1/3 of the students (ranks 3 and 4). The consequences of MPA: 22% and 35% of the students think that they have failed exams and auditions, respectively, because of MPA. Further, 25% of the students have already avoided performing and 11% have interrupted public performances because of MPA. Coping with MPA: 90% of the students have never used alcohol prior to performing, whereas 97% and 81%, respectively, have never used recreation drugs and medication. The majority of students use relaxation exercises, respiratory exercises, and meditation techniques to prepare themselves. About ¾ of the students think that the use of alcohol and recreational drugs to manage MPA is never justified. 53% of the students think that the use of medication is justified on some occasions. Need for information and support: 66% of the students would like to receive more support and help to cope with music performance situations. This support should mainly come from their teachers and specialists. 53% of the students know nothing or little about possible means for the management of MPA. About 50% consider themselves not at all or little informed about the possible risks associated with the consumption of alcohol, recreational drugs, and medication for the management of performance situations. 89% would like to know more about MPA and 94% think that this topic should be discussed much more in their musical education at the conservatory. Conclusions The results of this survey indicate that MPA is a major problem for 1/3 of the students with serious consequences on their career. There is a huge need for more information and support on how to manage the stress due to performance situations. The use of alcohol, recreational drugs, and medication is modest but the students are poorly informed about possible side-effects of these coping strategies. It seems clear that more should be done in the French Swiss conservatories about music performance anxiety to inform, educate, and prepare the students for their future professional career.
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Conflicts among siblings are widespread and their resolution involves complex physical and communication tools. Observations in the barn owl Tyto alba showed that siblings vocally communicate in the absence of parents to negotiate priority of access to the impending food resources that parents will bring. In the present paper, we hypothesize and provide correlative evidence that after a parent brought a food item to their progeny, sibling competition involves vocal sib-sib communication. A food item takes a long time to be entirely consumed, and hence siblings continue to compete over prey monopolization even after parents gave a food item to a single offspring. When physical competition is pronounced and thereby the risk of prey theft is high, the individual that received a prey item consumes it in a concealed place. Concomitantly, nestlings vocalize intensely probably to indicate their motivation to siblings to not share their food item, since this vocal behaviour was particularly frequent in younger individuals for which the risk of being robbed is higher than in their older siblings. Furthermore, nestlings consumed more rapidly a food item when their siblings vocalized intensely presumably because the intensity of siblings' vocalizations is associated with a risk of prey theft. Our correlative study suggests that sibling competition favoured the evolution of sib-sib communication under a wide range of situations.
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Oral levofloxacin is as efficient as sequential antibiotic treatment in community-acquired pneumonia (CAP). The current authors assessed whether oral levofloxacin treatment of patients with severe CAP, followed-up for 30 days, would save money. Over a 12-month period, 129 hospitalised patients with severe non-intensive care unit CAP were randomly assigned to receive either oral levofloxacin or sequential antibiotic treatment. Direct and indirect costs were compared over a 30-day period from several perspectives. CAP resolved in 71 out of 77 oral levofloxacin (92%) and in 34 out of 37 sequential antibiotic treatment patients (92%). Patients' characteristics, treatment duration, hospital length of stay and mortality were similar in both groups. Drug acquisition costs were 1.7-times smaller in oral levofloxacin patients, who were less often transferred to rehabilitation centres, but they used more physicians' visits during follow-up and their total costs were lower. As only a minority of patients was still active, inability to work and, hence, indirect costs were similar in both groups. In this study, oral levofloxacin for severe non-intensive care unit community-acquired pneumonia was equally effective as sequential antibiotic treatment, but did not lead to major costs savings except for drug acquisition costs. External factors linked with patients' characteristics and/or medical practice are likely to play a role and should be addressed.
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The Brazilian Amazon Region is a highly endemic area for hepatitis B virus (HBV). However, little is known regarding the genetic variability of the strains circulating in this geographical region. Here, we describe the first full-length genomes of HBV isolated in the Brazilian Amazon Region; these genomes are also the first complete HBV subgenotype D3 genomes reported for Brazil. The genomes of the five Brazilian isolates were all 3,182 base pairs in length and the isolates were classified as belonging to subgenotype D3, subtypes ayw2 (n = 3) and ayw3 (n = 2). Phylogenetic analysis suggested that the Brazilian sequences are not likely to be closely related to European D3 sequences. Such results will contribute to further epidemiological and evolutionary studies of HBV.
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Stable gene silencing by RNA interference (RNAi) can be achieved by expression of small hairpin RNAs (shRNAs) from RNA polymerase III promoters. We have tested lentiviral vectors expressing shRNAs targetting CCR5 in primary CD4 T cells from donors representing various CCR5 and CCR2 genetic backgrounds covering the full spectrum of CCR5 expression levels and permissiveness for HIV-1 infection. A linear decrease in CCR5 expression resulted in a logarithmic decrease in cellular infection, giving up to three logs protection from HIV-1 infection in vitro. Protection was maintained at very high multiplicity of infection. This and other recent reports on RNAi should open a debate about the use of RNAi gene therapy for HIV infection.