3,172 research outputs found

    A Mutant Ahr Allele Protects the Embryonic Kidney from Hydrocarbon-Induced Deficits in Fetal Programming

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    Background: The use of experimental model systems has expedited the elucidation of pathogenetic mechanisms of renal developmental disease in humans and the identification of genes that orchestrate developmental programming during nephrogenesis

    Congenital contractural arachnodactyly (Beals syndrome)

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    Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended

    Evidence-based practice educational intervention studies: A systematic review of what is taught and how it is measured

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    Abstract Background Despite the established interest in evidence-based practice (EBP) as a core competence for clinicians, evidence for how best to teach and evaluate EBP remains weak. We sought to systematically assess coverage of the five EBP steps, review the outcome domains measured, and assess the properties of the instruments used in studies evaluating EBP educational interventions. Methods We conducted a systematic review of controlled studies (i.e. studies with a separate control group) which had investigated the effect of EBP educational interventions. We used citation analysis technique and tracked the forward and backward citations of the index articles (i.e. the systematic reviews and primary studies included in an overview of the effect of EBP teaching) using Web of Science until May 2017. We extracted information on intervention content (grouped into the five EBP steps), and the outcome domains assessed. We also searched the literature for published reliability and validity data of the EBP instruments used. Results Of 1831 records identified, 302 full-text articles were screened, and 85 included. Of these, 46 (54%) studies were randomised trials, 51 (60%) included postgraduate level participants, and 63 (75%) taught medical professionals. EBP Step 3 (critical appraisal) was the most frequently taught step (63 studies; 74%). Only 10 (12%) of the studies taught content which addressed all five EBP steps. Of the 85 studies, 52 (61%) evaluated EBP skills, 39 (46%) knowledge, 35 (41%) attitudes, 19 (22%) behaviours, 15 (18%) self-efficacy, and 7 (8%) measured reactions to EBP teaching delivery. Of the 24 instruments used in the included studies, 6 were high-quality (achieved ≥3 types of established validity evidence) and these were used in 14 (29%) of the 52 studies that measured EBP skills; 14 (41%) of the 39 studies that measured EBP knowledge; and 8 (26%) of the 35 studies that measured EBP attitude. Conclusions Most EBP educational interventions which have been evaluated in controlled studies focus on teaching only some of the EBP steps (predominantly critically appraisal of evidence) and did not use high-quality instruments to measure outcomes. Educational packages and instruments which address all EBP steps are needed to improve EBP teaching

    Green Production of Anionic Surfactant Obtained from Pea Protein

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    A pea protein isolate was hydrolyzed by a double enzyme treatment method in order to obtain short peptide sequences used as raw materials to produce lipopeptides-based surfactants. Pea protein hydrolysates were prepared using the combination of Alcalase and Flavourzyme. The influence of the process variables was studied to optimize the proteolytic degradation to high degrees of hydrolysis. The average peptide chain lengths were obtained at 3–5 amino acid units after a hydrolysis of 30 min with the mixture of enzymes. Then, N-acylation in water, in presence of acid chloride (C12 and C16), carried out with a conversion rate of amine functions of 90%, allowed to obtain anionic surfactant mixtures (lipopeptides and sodium fatty acids). These two steps were performed in water, in continuous and did not generate any waste. This process was therefore in line with green chemistry principles. The surface activities (CMC, foaming and emulsifying properties) of these mixtures were also studied. These formulations obtained from natural renewable resources and the reactions done under environmental respect, could replace petrochemical based surfactants for some applications

    Indapamide-induced transient myopia with supraciliary effusion: case report.

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    BACKGROUND: Ingestion of sulphonamide-derived drugs has been reported to possibly have ocular side-effects. Authors aimed to present a rare case of indapamide-induced transient myopia with ciliary body edema and supraciliary effusion. CASE PRESENTATION: A 39 years old caucasian female patient presented at the Department of Neurology with headache and sudden bilateral loss of distant vision. Neurological assessment and cranial CT scans were unremarkable. For her hypertension, twice a day bisoprolol 2.5 mg and once a day indapamide 1.5 mg tablets were prescribed several days before. At her presenting, ophthalmic findings were as follows: visual acuity 0.08-7.25Dsph = 1.0 and 0.06-7.25Dsph = 1.0; IOP 25 mmHg and 24 mmHg, anterior chamber depth (ACD) 2.32 mm and 2.49 mm, lens thickness (L) 4.02 mm and 4.09 mm in the right and the left eye, respectively. By means of ultrasound biomicroscopy (UBM), thickened (720 / 700 micron) and detached ciliary body, its forward movement (ciliary body-cornea angle 108[prime] / 114[prime]) and forward rotated ciliary processes were seen. Angle opening distance (AOD500) were 300 / 314 microns. By the following days, the myopia gradually diminished, and a week after her first symptoms, her uncorrected visual acuity was 1.0 in both eyes, IOP 13 mmHg and 17 mmHg, ACD 3.68 mm and 3.66 mm, L 3.78 mm and 3.81 mm in the right and the left eye, respectively. Ciliary body edema and detachment disappeared (ciliary body thickness 225 / 230 micron), both of the ciliary body-cornea angle 134[prime] / 140[prime] and the AOD500 (650 / 640 microns) increased. At this point, the patient admitted that she had stopped taking indapamide two days before. CONCLUSIONS: Our case report is the third one in the literature to present indapamide-induced transient myopia, and the first to employ UBM for describing the characteristics of this rare condition. According to the findings, authors suggest that both ciliary muscle contraction and ciliary body edema may play role in the pathomechanism. UBM seems to be a useful tool in the differential diagnosis of acute myopia. Further, authors wish to draw attention to one of the potential adverse effects of this drug which was not listed by its package insert

    A combinatorial TIR1/AFB–Aux/IAA co-receptor system for differential sensing of auxin

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    The plant hormone auxin regulates virtually every aspect of plant growth and development. Auxin acts by binding the F-box protein transport inhibitor response 1 (TIR1) and promotes the degradation of the AUXIN/INDOLE-3-ACETIC ACID (Aux/IAA) transcriptional repressors. Here we show that efficient auxin binding requires assembly of an auxin co-receptor complex consisting of TIR1 and an Aux/IAA protein. Heterologous experiments in yeast and quantitative IAA binding assays using purified proteins showed that different combinations of TIR1 and Aux/IAA proteins form co-receptor complexes with a wide range of auxin-binding affinities. Auxin affinity seems to be largely determined by the Aux/IAA. As there are 6 TIR1/AUXIN SIGNALING F-BOX proteins (AFBs) and 29 Aux/IAA proteins in Arabidopsis thaliana, combinatorial interactions may result in many co-receptors with distinct auxin-sensing properties. We also demonstrate that the AFB5–Aux/IAA co-receptor selectively binds the auxinic herbicide picloram. This co-receptor system broadens the effective concentration range of the hormone and may contribute to the complexity of auxin response

    Mineralization of sheep manure and its influence on lettuce production

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    Diversos resíduos orgânicos são utilizados na agricultura sem o adequado conhecimento da sua dinâmica de mineralização. Avaliou-se a mineralização de esterco de ovinos e sua influência na produção de alface. Utilizou-se o delineamento experimental de blocos ao acaso com três repetições. Foram utilizadas 25 t ha-1 como dose de esterco para cada um dos seguintes tratamentos: 1) esterco de ovinos que se alimentaram de feno de mandioca (PAM); 2) esterco de ovinos que se alimentaram de subproduto de ervilha (ERV); 3) esterco de ovinos que se alimentaram de feno de capim coast-cross (FCC); 4) esterco de ovinos que se alimentaram de subproduto de saccharina (SAC) e 5) solo sem aplicação de esterco (testemunha). Foi determinada semanalmente a respiração basal do solo, utilizada como indicador de mineralização da matéria orgânica. A massa fresca de alface foi avaliada como medida de produção. Os tratamentos ERV, FCC e SAC apresentaram ganhos de massa fresca na ordem de 68, 65 e 62% em relação à testemunha e de 43, 39 e 33% em relação ao PAM, respectivamente. A produção menor promovida pelo PAM, em relação às demais, pode ser explicada pela forma de mineralização da matéria orgânica que apresentou elevada respiração microbiana cinco dias após o transplantio, com acentuado declínio, nas medições subseqüentes, ao longo do ciclo da cultura. Os demais tratamentos apresentaram mineralização sincronizada com conseqüente aumento na produção de massa fresca. ____________________________________________________________________________________________________________ ABSTRACTSeveral organic wastes are used in agriculture with no precise knowledge about the mineralization dynamics of these materials. In this study the sheep manure mineralization and its influence on the lettuce production was evaluated. A randomized block design with three replications was used. Five treatments were studied using 25 t ha-1 as dose of manure: 1) sheep manure obtained from animals fed with cassava straw (PAM); 2) sheep manure obtained from animals fed with residue of pea crop (ERV); 3) sheep manure obtained from animals fed with Coast-Cross hay (FCC), 4) sheep manure obtained from animals fed with saccharin residue (SAC) and 5) soil without application of manure (control). Weekly the basal respiration was determined and used as an indicator of organic matter mineralization. Lettuce fresh mass was evaluated as a measure of production. Treatments ERV, FCC and SAC showed superior weight gains of 68, 65 and 62% compared to the control and 43, 39 and 33% compared to MAP, respectively. Lower production promoted by the MAP in relation to the other treatments can be explained by organic matter mineralization that showed a high microbial respiration five days after transplanting, with marked decline in subsequent measurements during the crop cycle. The other systems showed mineralization synchronized with the production increase of lettuce fresh mass

    A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

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    Many mammals are well adapted to surviving in extremely cold environments. These species have likely accumulated genetic changes that help them efficiently cope with low temperatures. It is not known whether the same genes related to cold adaptation in one species would be under selection in another species. The aims of this study therefore were: to create a compendium of mammalian genes related to adaptations to a low temperature environment; to identify genes related to cold tolerance that have been subjected to independent positive selection in several species; to determine promising candidate genes/pathways/organs for further empirical research on cold adaptation in mammals

    Routes for breaching and protecting genetic privacy

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    We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we technically map threats to genetic privacy and discuss potential mitigation strategies for privacy-preserving dissemination of genetic data.Comment: Draft for comment

    Dealing with the health state ‘dead’ when using discrete choice experiments to obtain values for EQ-5D-5L heath states - Springer

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    __Abstract__ __Objective__ : To evaluate two different methods to obtain a dead (0)—full health (1) scale for EQ-5D-5L valuation studies when using discrete choice (DC) modeling. __Method__ : The study was carried out among 400 respondents from Barcelona who were representative of the Spanish population in terms of age, sex, and level of education. The DC design included 50 pairs of health states in five blocks. Participants were forced to choose between two EQ-5D-5L states (A and B). Two extra questions concerned whether A and B were considered worse than dead. Each participant performed ten choice exercises. In addition, values were collected using lead-time trade-off (lead-time TTO), for which 100 states in ten blocks were selected. Each participant performed five lead-time TTO exercises. These consisted of DC models offering the health state ‘dead’ as one of the choices—for which all participants’ responses were used (DCdead)—and a model that included only the responses of participants who chose at least one state as worse than dead (WTD) (DCWTD). The study also estimated DC models rescaled with lead-time TTO data and a lead-time TTO linear model. __Results__ : The DCdead and DCWTD models produced relatively similar results, although the coefficients in the DCdead model were slightly lower. The DC model rescaled with lead-time TTO data produced higher utility decrements. Lead-time TTO produced the highest utility decrements. __Conclusions__: The incorporation of the state ‘dead’ in the DC models produces results in concordance with DC models that do not include ‘dead’
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