Síndrome de Smith-Lemli-Opitz

El síndrome de Smith-Lemli-Opitz (Smith-Lemli-Opitz Syndrome –SLOS-) es un error congénito del metabolismo de herencia autosómica recesiva que asocia discapacidad intelectual y múltiples malformaciones. El objetivo de este trabajo es realizar una revisión de las principales características de este síndrome y estudiar a través de un caso el manejo inicial de estos pacientes así como el procedimiento necesario para llegar a un diagnóstico definitivo. Este síndrome se produce por un error congénito en la biosíntesis del colesterol, en concreto por una deficiencia del enzima 7-dehidrocolesterol reductasa. Se caracteriza por retraso de crecimiento tanto prenatal como postnatal, microcefalia, discapacidad intelectual de grado moderado-grave y múltiples malformaciones tanto mayores como menores. Pertenece al grupo de las ``Enfermedades Raras´´. Dada la baja prevalencia de este síndrome (1:20.000-1:40.000) así como unos mecanismos fisiopatológicos no completamente comprendidos por el momento, no es posible establecer protocolos estrictos para los métodos terapéuticos. Para llegar a un diagnóstico es necesario un elevado índice de sospecha, especialmente en las formas más leves. Tras este se llevan a cabo pruebas más específicas para confirmar el diagnóstico como son el estudio bioquímico y genético. Los pacientes afectados por este síndrome pueden presentar múltiples alteraciones, por lo que en su manejo inicial, es básica la colaboración de un equipo multidisciplinar, además de valorar la realización de diversas pruebas complementarias. El tratamiento más utilizado actualmente consiste en la suplementación con colesterol exógeno junto a un inhibidor de la hidroximetil-CoA reductasa. Además del tratamiento específico de cada una de las alteraciones que presente el individuo afectado (oftalmológicas, otorrinolaringológicas, cardíacas, neurológicas, digestivas, musculoesqueléticas, etc.), algunas de las cuales pueden requerir tratamiento quirúrgico. El pronóstico de estos pacientes es variable en función de la gravedad de la enfermedad. Encontramos desde formas leves que pueden llevar una vida prácticamente normal frente a formas muy severas con fallecimiento en el período neonatal por fallo multiorgánico. Sin embargo la mayoría de los pacientes presentan una supervivencia variable con unos niveles importantes de discapacidad-dependencia

Jardins per a la salut

Facultat de Farmàcia, Universitat de Barcelona. Ensenyament: Grau de Farmàcia. Assignatura: Botànica farmacèutica. Curs: 2014-2015. Coordinadors: Joan Simon, Cèsar Blanché i Maria Bosch.Els materials que aquí es presenten són el recull de les fitxes botàniques de 128 espècies presents en el Jardí Ferran Soldevila de l’Edifici Històric de la UB. Els treballs han estat realitzats manera individual per part dels estudiants dels grups M-3 i T-1 de l’assignatura Botànica Farmacèutica durant els mesos de febrer a maig del curs 2014-15 com a resultat final del Projecte d’Innovació Docent «Jardins per a la salut: aprenentatge servei a Botànica farmacèutica» (codi 2014PID-UB/054). Tots els treballs s’han dut a terme a través de la plataforma de GoogleDocs i han estat tutoritzats pels professors de l’assignatura. L’objectiu principal de l’activitat ha estat fomentar l’aprenentatge autònom i col·laboratiu en Botànica farmacèutica. També s’ha pretès motivar els estudiants a través del retorn de part del seu esforç a la societat a través d’una experiència d’Aprenentatge-Servei, deixant disponible finalment el treball dels estudiants per a poder ser consultable a través d’una Web pública amb la possibilitat de poder-ho fer in-situ en el propi jardí mitjançant codis QR amb un smartphone

Ética Profesional y Responsabilidad Social Universitaria

este libro compila reflexiones y experiencias en responsabilidad social y ética profesional desde instituciones de Educación Superior. La responsabilidad social universitaria, como ámbito de investigación y de desarrollo conceptual y metodológico es transversal a las universidades, tanto desde el punto de vista organizacional, como desde el misional e investigativo. Quienes impulsen la responsabilidad social, requieren de ética profesional, que debe ser la clave para la construcción de principios que guíen a empresarios, políticos, gestores sociales, investigadores, entre otros, para lograr consensuar el a veces difícil equilibrio entre el bien común y el desarrollo personal

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Evolution of the optimal catalytic systems for the oxidative dehydrogenation of ethane: The role of adsorption in the catalytic performance

Three samples that correspond to the evolution of optimal catalytic systems for the oxidative dehydrogenation of ethane have been synthesized and compared in terms of catalytic behavior and adsorption properties: (i) vanadium oxide supported on alumina, (ii) Sn-promoted NiO, and (iii) multicomponent MoVTeNbO with the M1 structure. The main difference in catalytic performance lies in the extent of the overoxidation of the ethylene formed, following the order VOx/Al2O3 > NiSnOx > MoVTeNb-M1. Accordingly, the selectivity to ethylene at medium and high ethane conversion follows the order MoVTeNb-M1 > NiSnOx > VOx/Al2O3. These results are confirmed by the relative reaction rates observed for the oxidation of ethane and the oxidation of ethylene. Microcalorimetry studies indicate that the heat of adsorption of both ethane and ethylene is the highest in the most selective MoVTeNb-M1 sample. Thus, the low olefin decomposition in the MoVTeNb-M1 catalyst is not due to weaker adsorption of ethylene but to the reduced ability of its active sites to activate ethylene. The same conclusion regarding the MoVTeNb-M1 catalyst can be drawn by FT-IR of adsorbed ethylene. On the other hand, NiSnOx active sites present a high overoxidation ability, as demonstrated by the notorious formation of oxygenated species, precursors of COx. However, the ethylene decomposition is rather mild because of the existence of many free Lewis sites not involved in the overoxidation reaction. In contrast, in the case of the VOx/Al2O3 catalyst, almost all active sites are involved in the oxidation path, so that the olefins decompose readily

Agroecology and sustainability in the Didactic Garden of the Faculty of Education -CFP of the Complutense University of Madrid

Con este proyecto se pretende potenciar el uso de los espacios verdes de la UCM, en especial el Huerto Didáctico de la Facultad de Educación, para trabajar con el alumnado de Magisterio la alimentación saludable y sostenibleDepto. de Didáctica de las Ciencias Experimentales , Sociales y MatemáticasDepto. de Didáctica de las Lenguas, Artes y Educación FísicaFac. de EducaciónFALSEsubmitte

La estructura sísmica de la corteza de la Zona de Ossa Morena y su interpretación geológica

The IBERSEIS deep reflection seismic experiment has provided a crustal image of the Variscan orogen of southwest Iberia. A brief presentation of the entire seismic profile is given, and then the Ossa-Morena Zone (OMZ) and its boundaries are considered. The crust of the OMZ is shown to be divided into an upper crust, characterized by dominantly NE-dipping reflectivity, and a poorly reflective lower crust. The reflectivity of the upper crust has good correlation with the geological cross-section constructed from surface mapping. In the seismic image, the upper crustal geological structures are seen to merge in the middle crust. Nevertheless, the OMZ middle crust is not a mere detachment level, as it shows very unusual features: it appears as a band of strong reflectivity and irregular thickness (the Iberian Reflective Body, IRB) that we interpret as a great sill-like intrusion of basic rocks. The boundaries of the OMZ are considered sutures of the orogen, and their geometrical features, as deduced from geological mapping and the seismic image, are in accordance with the transpressional character of the Variscan collision recorded in SW Iberia. The present Moho is flat, obliterating the root of the orogen.El experimento de sísmica de reflexión profunda IBERSEIS ha proporcionado una imagen de la corteza del Orógeno Varisco en el sudoeste de Iberia. Este artículo se centra en la descripción de la corteza de la Zona de Ossa Morena (OMZ), que está claramente dividida en una corteza superior, con reflectividad de buzamiento al NE, y una corteza inferior de pobre reflectividad. Las estructuras geológicas cartografiadas en superficie se correlacionan bien con la reflectividad de la corteza superior, y en la imagen sísmica se ven enraizar en la corteza media. Ésta está constituida por un cuerpo muy reflectivo, interpretado como una gran intrusión de rocas básicas. La imagen de las suturas que limitan la OMZ muestra el carácter fuertemente transpresivo de la colisión orogénica varisca registrada en el sudoeste de Iberia. La Moho actual es plana y, en consecuencia, no se observa la raíz del orógeno

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C : A prospective observational study

Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with ≥2 clinical signs/symptoms of NP-C were considered 'suspected NP-C' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI ≥70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 [4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores ≥70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis

Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trialResearch in context

Summary: Background: Anti-COVID-19 hyperimmune immunoglobulin (hIG) can provide standardized and controlled antibody content. Data from controlled clinical trials using hIG for the prevention or treatment of COVID-19 outpatients have not been reported. We assessed the safety and efficacy of subcutaneous anti-COVID-19 hyperimmune immunoglobulin 20% (C19-IG20%) compared to placebo in preventing development of symptomatic COVID-19 in asymptomatic individuals with SARS-CoV-2 infection. Methods: We did a multicentre, randomized, double-blind, placebo-controlled trial, in asymptomatic unvaccinated adults (≥18 years of age) with confirmed SARS-CoV-2 infection within 5 days between April 28 and December 27, 2021. Participants were randomly assigned (1:1:1) to receive a blinded subcutaneous infusion of 10 mL with 1 g or 2 g of C19-IG20%, or an equivalent volume of saline as placebo. The primary endpoint was the proportion of participants who remained asymptomatic through day 14 after infusion. Secondary endpoints included the proportion of individuals who required oxygen supplementation, any medically attended visit, hospitalisation, or ICU, and viral load reduction and viral clearance in nasopharyngeal swabs. Safety was assessed as the proportion of patients with adverse events. The trial was terminated early due to a lack of potential benefit in the target population in a planned interim analysis conducted in December 2021. ClinicalTrials.gov registry: NCT04847141. Findings: 461 individuals (mean age 39.6 years [SD 12.8]) were randomized and received the intervention within a mean of 3.1 (SD 1.27) days from a positive SARS-CoV-2 test. In the prespecified modified intention-to-treat analysis that included only participants who received a subcutaneous infusion, the primary outcome occurred in 59.9% (91/152) of participants receiving 1 g C19-IG20%, 64.7% (99/153) receiving 2 g, and 63.5% (99/156) receiving placebo (difference in proportions 1 g C19-IG20% vs. placebo, −3.6%; 95% CI -14.6% to 7.3%, p = 0.53; 2 g C19-IG20% vs placebo, 1.1%; −9.6% to 11.9%, p = 0.85). None of the secondary clinical efficacy endpoints or virological endpoints were significantly different between study groups. Adverse event rate was similar between groups, and no severe or life-threatening adverse events related to investigational product infusion were reported. Interpretation: Our findings suggested that administration of subcutaneous human hyperimmune immunoglobulin C19-IG20% to asymptomatic individuals with SARS-CoV-2 infection was safe but did not prevent development of symptomatic COVID-19. Funding: Grifols