A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I

Aim: Unless specifically treated (glucocorticoids in low doses), Familial Hyperaldosteronism Type I(FH-I) may result in early death from stroke. We report the successful application of a rapid, polymerase chain reaction (PCR)-based method of detecting the 'hybrid' 11 beta-hydroxylase (11 beta-OHase)/aldosterone synthase (AS) gene as a screening test for FH-I. Methods: 'Long-PCR' was used to amplify, concurrently, a 4 kb fragment of AS gene (both primers AS-specific) and a 4 kb fragment of the hybrid gene (5' primer 11 beta-OHase-specific, 3'primer AS-specific) from DNA extracted from blood either collected locally or transported from elsewhere. Sample collection and transport were straightforward. This 4 kb fragment contains all the currently recognised hybrid gene 'crossover' points. Results: Within a single family, long-PCR identified all 21 individuals known to have FH-I. Hypertension was corrected in all 11 treated with glucocorticoids. Nine with normal blood pressure are being closely followed for development of hypertension. Long-PCR cord blood analysis excluded FH-I in three neonates born to affected individuals. Long-PCR newly identified two other affected families: (1) a female (60 years) with a personal and family history of stroke and her normotensive daughter (40 years), and (2) a female (51 years) previously treated for primary aldosteronism with amiloride, her two hypertensive sons (14 and 16 years) and her hypertensive mother (78 years). No false negative or false positive results have yet been encountered. At least seven other centres have successfully performed this test. Conclusion: Long-PCR is a reliable method of screening individuals of all ages for FH-I.

Severity of hypertension in familial hyperaldosteronism type I: Relationship to gender and degree of biochemical disturbance

In familial hyperaldosteronism type I (FH-I), inheritance of a hybrid 11 beta-hydroxylase/aldosterone synthase gene causes ACTH-regulated aldosterone overproduction. In an attempt to understand the marked variability in hypertension severity in FH-I, we compared clinical and biochemical characteristics of 9 affected individuals with mild hypertension (normotensive or onset of hypertension after 15 yr, blood pressure never >160/100 mm Hg, less than or equal to 1 medication required to control hypertension, no history of stroke, age >18 yr when studied) with those of 17 subjects with severe hypertension (onset before 15 yr, or systolic blood pressure >180 mm Hg or diastolic blood pressure >120 mm Hg at least once, or greater than or equal to 2 medications, or history of stroke). Severe hypertension was more frequent in males (11 of 13 males vs. 6 of 13 females; P

In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes

We compared the aldosterone-producing potency of the angiotensin II-sensitive wild-type aldosterone synthase genes and the ACTH-sensitive hybrid 11 beta-hydroxylase/aldosterone synthase gene by examining aldosterone, PRA, and cortisol day-curves (2-hourly levels over 24 h) in patients with familial hyperaldosteronism type I, before and during long-term (0.8-13.5 yr) glucocorticoid treatment. In 8 untreated patients, PRA levels were usually suppressed, and aldosterone correlated strongly with cortisol (r = 0.69-0.99). Fourteen studies were performed on 10 patients receiving glucocorticoid treatment that corrected hypertension, hypokalemia, and PRA suppression in all. ACTH was markedly and continuously suppressed in 6 studies, 3 of which demonstrated strong correlations between aldosterone and PRA (r = 0.77-0.92), ACTH was only partially suppressed in the remaining 8 studies; aldosterone correlated strongly: 1) with cortisol alone in 5 (r = 0.71-0.98); 2) with cortisol (r = 0.90) and PRA (r = 0.74) in one; 3) with PRA only in one (r = 0.80); and 4) with neither PRA nor cortisol in one. Unless ACTH is markedly and continuously suppressed, aldosterone is more responsive to ACTH than to renin/angiotensin II, despite the latter being unsuppressed. This is consistent with the hybrid gene being more powerfully expressed than the wild-type aldosterone synthase genes in familial hyperaldosteronism type I.

Evaluation of the insulin-like growth factors (IGF) IGF-I and IGF binding protein 3 in patients at high risk for breast cancer

Our data suggest that serum concentrations of insulin-like growth factor I and insulin-like growth factor binding protein 3 do not correlate with breast cancer development. (Fertil Steril (R) 2011;95:2753-5. (C)2011 by American Society for Reproductive Medicine.)

A phylogeny for the genus Isoodon and a range extension for I-obesulus peninsulae based on mtDNA control region and morphology

Short-nosed bandicoots, Isoodon, have undergone marked range contractions since European colonisation of Australia and are currently divided into many subspecies, the validity of which is debated. Discriminant function analysis of morphology and a phylogeny of Isoodon based on mtDNA control region sequences indicate a clear split between two of the three recognised species, I. macrourus and I. obesulus/auratus. However, while all previously recognised taxa within the I. obesulus/auratus group are morphologically distinct, I. auratus and I. obesulus are not phylogenetically distinct for mtDNA. The genetic divergence between I. obesulus and I. auratus (2.6%) is similar to that found among geographic isolates of the former (I. o. obesulus and I. o. peninsulae: 2.7%). Further, the divergence between geographically close populations of two different species (I. o. obesulus from Western Australia and I. a. barrowensis: 1.2%) is smaller than that among subspecies within I. auratus (I. a. barrowensis and I. auratus from northern Western Australia: 1.7%). A newly discovered population of Isoodon in the Lamb Range, far north Queensland, sympatric with a population of I. m. torosus, is shown to represent a range extension of I. o. peninsulae (350 km). It seems plausible that what is currently considered as two species, I. obesulus and I. auratus, was once one continuous species now represented by isolated populations that have diverged morphologically as a consequence of adaptation to the diverse environments that occur throughout their range. The taxonomy of these populations is discussed in relation to their morphological distinctiveness and genetic similarity.

Informe sobre el I Encuentro Británico-Español de Profesores de Biblioteconomía y Documentación, 2000 (Barcelona, 30-31 de març i 1 d'abril de 2000)

Sota el títol de Biblioteconomía y Documentación en la era digital: docencia e investigación, l'Observatori de la Comunicació Científica, la Secció Científica de Biblioteconomia i Documentació del Departament de Ciències Polítiques i Socials i l'Institut de Lingüística Aplicada (IULA) de la Universitat Pompeu Fabra organitzaren en les dates ja esmentades el I Encuentro Británico-Español de Profesores de Biblioteconomia y Documentación a la seu de la Rambla d'aquesta Universitat. Han col·laborat en aquesta activitat, a més, el Ministerio de Educación y Cultura, el Departamento de Biblioteconomía y Documentación de la Universidad Carlos III de Madrid, la Llicenciatura en Documentació de la Universitat Autònoma de Barcelona, la Llicenciatura en Documentació de la Universitat de Barcelona, la Llicenciatura en Documentació de laUniversitat Oberta de Catalunya, el Col·legi Oficial de Bibliotecaris-Documentalistes de Catalunya (COBDC) i la School of Information and Media Robert Gordon University. Pel nombre d'institucions implicades i pelseu alt nivell, es constata fàcilment que la trobada naixia amb molt bons auguris.

Estudi del TDAH : Diagnòstic, avaluació i diferents tractaments d'intervenció

El present treball té com a objectiu principal realitzar un estudi teòric i científic sobre el Trastorn del Dèficit d'Atenció per Hiperactivitat (TDAH) des d'una perspectiva clínica. El propòsit és aprofundir en el coneixement del trastorn estudiant les variables diagnòstiques, el tipus d'avaluació a realitzar i els diferents tractaments d'intervenció existents; considerant la seva eficàcia i eficiència segons la validesa científica que presenten. A més, es qüestiona quin o quins enfocaments poden presentar més efectivitat per a pal·liar o eliminar la simptomatologia del trastorn, considerant els tipus de tractament presentats (farmacològic, teràpia psicològica cognitiu-conductual, psicopedagògic i educatiu o teràpies alternatives).

O lugar da experiência na fenomenologia de E. Husserl: de prolegômenos a ideias I

O artigo aborda o lugar da experiência nas origens da fenomenologia, em Prolegômenos à Lógica Pura (1900). Mostra-nos que Husserl assume uma posição específica quanto ao papel da experiência no debate sobre a relação entre a lógica e a psicologia. O artigo trata ainda dos reflexos da posição husserliana em Ideias I (1913), a propósito da temática da constituição dos objetos intencionais. Husserl indica o papel decisivo assumido pelos dados sensíveis, na medida em que servem de "suporte" para a intencionalidade. Destaca-se a concepção segundo a qual a doação de sentido que se dá através dos atos intencionais da consciência não deriva dos dados sensíveis, porém, não começa sem eles.

Estudio Costo-Efectividad de Lidocaína tópica como adyuvante a Pregabalina y Gabapentina en dolor neuropático periférico en una I.P.S de Bogotá 2011.

Introducción: el dolor neuropático es una patología de considerable prevalencia e impacto socio-económico en la población latinoamericana, la evidencia clínica sugiere que los ligandos de canales de calcio y el parche de Lidocaína pueden tratar exitosamente el dolor neuropático periférico y localizado. Metodología: se realizo una evaluación económica tipo costo-efectividad, observacional y retrospectiva con datos extraídos de las historias clínicas de pacientes atendidos en la clínica de dolor de la IPS. La variable primaria de efectividad fue la mejoría del dolor medida mediante escala visual análoga. Resultados: se estudiaron 94 pacientes tratados con: Gabapentina (G) 21, Pregabalina (P) 24, Gabapentina+ lidocaína (G/P) 24, Pregabalina + Lidocaína (P/L) 25, los costos asociados al tratamiento son los siguientes COP$114.070.835, COP$105.855.920, COP$88.717.481 COP$89.854.712 respectivamente, el número de pacientes con mejoría significativa de dolor fue: 8,10,9 y 21 pacientes respectivamente. El ICER de G/L con respecto a G fue: COP$ -25.353.354. El ICER de P/L con respecto a P fue: COP$ -1.454.655. Conclusiones: la adición del parche de lidocaína a la terapia regular con P/L represento una disminución de consumo de recursos en salud como uso de medicamentos co-analgésicos, analgésicos de rescate y fármacos para controlar reacciones adversas, de la misma forma que consultas a profesionales de la salud. Cada paciente manejado con P/L representa un ahorro de COP $1.454.655 al contrario si se manejase con el anticonvulsivante de manera exclusiva, en el caso de G/L este ahorro es de COP $ 25.353.354 frente a G sola.

Edmund Husserl, li vaig demanar auxili

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The role of myeloid receptors on murine plasmacytoid dendritic cells in induction of type I interferon

This study tested the hypothesis that a set of predominantly myeloid restricted receptors (F4/80, CD36, Dectin-1, CD200 receptor and mannan binding lectins) and the broadly expressed CD200 played a role in a key function of plasmacytoid DC (pDC), virally induced type I interferon (IFN) production. The Dectin-1 ligands zymosan, glucan phosphate and the anti-Dectin-1 monoclonal antibody (mAb) 2A11 had no effect on influenza virus induced IFNα/β production by murine splenic pDC. However, mannan, a broad blocking reagent against mannose specific receptors, inhibited IFNα/β production by pDC in response to inactivated influenza virus. Moreover, viral glycoproteins (influenza virus haemagglutinin and HIV-1 gp120) stimulated IFNα/β production by splenocytes in a mannan-inhibitable manner, implicating the function of a lectin in glycoprotein induced IFN production. Lastly, the effect of CD200 on IFN induction was investigated. CD200 knock-out macrophages produced more IFNα than wild-type macrophages in response to polyI:C, a MyD88-independent stimulus, consistent with CD200's known inhibitory effect on myeloid cells. In contrast, blocking CD200 with an anti-CD200 mAb resulted in reduced IFNα production by pDC-containing splenocytes in response to CpG and influenza virus (MyD88-dependent stimuli). This suggests there could be a differential effect of CD200 on MyD88 dependent and independent IFN induction pathways in pDC and macrophages. This study supports the hypothesis that a mannan-inhibitable lectin and CD200 are involved in virally induced type I IFN induction.

The Dirichlet-to-Neumann map for the elliptic sine Gordon

We analyse the Dirichlet problem for the elliptic sine Gordon equation in the upper half plane. We express the solution $q(x,y)$ in terms of a Riemann-Hilbert problem whose jump matrix is uniquely defined by a certain function $b(\la)$, $\la\in\R$, explicitly expressed in terms of the given Dirichlet data $g_0(x)=q(x,0)$ and the unknown Neumann boundary value $g_1(x)=q_y(x,0)$, where $g_0(x)$ and $g_1(x)$ are related via the global relation $\{b(\la)=0$, $\la\geq 0\}$. Furthermore, we show that the latter relation can be used to characterise the Dirichlet to Neumann map, i.e. to express $g_1(x)$ in terms of $g_0(x)$. It appears that this provides the first case that such a map is explicitly characterised for a nonlinear integrable {\em elliptic} PDE, as opposed to an {\em evolution} PDE.

Soliton solutions for the super mKdV and sinh-Gordon hierarchy

The dressing and vertex operator formalism is emploied to study the soliton solutions of the N = I super mKdV and sinh-Gordon models. Explicit two and four vertex solutions are constructed. The relation between the soliton solutions of both models is verified. (c) 2006 Elsevier B.V. All rights reserved.