Papel del farmacéutico en respuesta a las necesidades sociosanitarias de los pacientes con intolerancia hereditaria a la fructosa

La Intolerancia Hereditaria a la Fructosa (IHF) es una enfermedad metabólica autosómica recesiva de baja prevalencia debida a una deficiencia en la actividad de la Aldolasa B, enzima encargada del metabolismo de la fructosa. Objetivos: Describir las necesidades sanitarias de los afectados y familiares con IHF relacionadas con el papel del farmacéutico y realizar acciones sobre medicamentos para facilitar la información para pacientes y profesionales sanitarios. Analizar sus necesidades y compararlas con las del Estudio sobre situación de Necesidades Sociosanitarias de las Personas con Enfermedades Raras (ER) en España (ENSERio).Material y métodos: Encuesta de evaluación de necesidades en IHF (ENSIHFE): estudio observacional prospectivo donde se difundió una encuesta anónima de evaluación de necesidades sociosanitarias, basada en el cuestionario del estudio ENSERio, a pacientes con IHF residentes en España (2016-2017). Se añadieron preguntas sobre la mejora de la situación actual, uso de medicamentos, fuentes de información y encuestas de calidad de vida relacionadas con la salud. Se realizó un muestreo no probabilístico con difusión a través de la Asociación de Afectados por IHF (AAIHF), otras asociaciones y médicos especialistas en enfermedades metabólicas..

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.This work was supported by Exp. No. 2018111095, Basque Government, Health Department to J.D.H., and by FEDER; Federación Española de Enfermedades Raras (FI18053)

Vitamin C and folate status in hereditary fructose intolerance

Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. Methods Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. Results Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p < 0.001). Conclusions Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.This work was supported by Exp. No. 2018111095, Basque Government, Health Department; FEDER, the Spanish Federation for Rare Diseases (FI18053); and Danone-Nutricia-Metabolics, which was not involved in the study hypothesis/design, execution, analysis, or interpretation

Combined Immune Defect in B-Cell Lymphoproliferative Disorders Is Associated with Severe Infection and Cancer Progression

This research received no external funding. K.G.-H is supported by The European Social Fund (ESF) through a Río Ortega Grant for Health Research Projects by the Carlos III Health Institute (ISCIII) (CM20/00098).B cell chronic lymphoproliferative diseases (B-CLPD) are associated with secondary antibody deficiency and other innate and adaptive immune defects, whose impact on infectious risk has not been systematically addressed. We performed an immunological analysis of a cohort of 83 B-CLPD patients with recurrent and/or severe infections to ascertain the clinical relevance of the immune deficiency expression. B-cell defects were present in all patients. Patients with combined immune defect had a 3.69-fold higher risk for severe infection (p = 0.001) than those with predominantly antibody defect. Interestingly, by Kaplan–Meier analysis, combined immune defect showed an earlier progression of cancer with a hazard ratio of 3.21, than predominantly antibody defect (p = 0.005). When B-CLPD were classified in low-degree, high-degree, and plasma cell dyscrasias, risk of severe disease and cancer progression significantly diverged in combined immune defect, compared with predominantly antibody defect (p = 0.001). Remarkably, an underlying primary immunodeficiency (PID) was suspected in 12 patients (14%), due to prior history of infections, autoimmune and granulomatous conditions, atypical or variegated course and compatible biological data. This first proposed SID classification might have relevant clinical implications, in terms of predicting severe infections and cancer progression, and might be applied to different B-CLPD entities.Depto. de Inmunología, Oftalmología y ORLFac. de MedicinaTRUEpu

Actualización e internacionalización del catálogo "OSCAR" de experiencias de Física General

En convocatorias anteriores de la convocatorias de Proyectos de Innovación Docente de l UCM, la última de ellas correspondiente a 2014, desarrollamos un Catálogo de experiencias de cátedra para la docencia de Física General, OSCAR. En esta edición los hemos ampliado con nuevas experiencias. Asimismo se ha desarrollado un programa de visitas de colegios a la Facultad de Ciencias Físicas de la UCM

Innovaciones y mejoras en el proyecto tutoría entre compañeros. Curso 2015-2016

Memoria ID-0137. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2015-2016

Human astrovirus outbreak in a daycare center and propagation among household contacts

first_pagesettings Open AccessArticle Human Astrovirus Outbreak in a Daycare Center and Propagation among Household Contacts by Ignacio Parrón 1,2,*ORCID,Elsa Plasencia 1,Thais Cornejo-Sánchez 3,Mireia Jané 2,4,5ORCID,Cristina Pérez 1,Conchita Izquierdo 4,Susana Guix 6,7ORCID,Àngela Domínguez 2,5ORCID andon behalf of the Working Group for the Study of Acute Gastroenteritis Outbreaks in Catalonia 1 Sub-Direcció Regional a Barcelona del Departament de Salut, 08005 Barcelona, Spain 2 Departament de Medicina, Universitat de Barcelona, 08036 Barcelona, Spain 3 Departament de Microbiologia, Vall d'Hebrón Hospital, 08035 Barcelona, Spain 4 Sub-Direcció General de Vigilància i Resposta a Emergències de Salut Pública, 08005 Barcelona, Spain 5 CIBER Epidemiologia y Salud Pública, Instituto de Salud Carlos III, 28029 Madrid, Spain 6 Grup de Virus Entérics, Departament de Genètica Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain 7 Institut de Recerca en Nutrició i Seguretat Alimentària (INSA-UB), Universitat de Barcelona, 08921 Santa Coloma de Gramenet, Spain * Author to whom correspondence should be addressed. Membership of the Working Group for the Study of Acute Gastroenteritis Outbreaks in Catalonia is provided in the Acknowledgments. Academic Editor: Stacey Schultz-Cherry Viruses 2021, 13(6), 1100; https://doi.org/10.3390/v13061100 Received: 2 May 2021 / Revised: 28 May 2021 / Accepted: 3 June 2021 / Published: 9 June 2021 (This article belongs to the Special Issue Gastroenteritis Viruses 2021) Download PDF Browse Figure Review Reports Citation Export Abstract We investigated an outbreak of acute gastroenteritis due to human astrovirus in a daycare center, describing the transmission mechanism, the most affected age groups, conditioning factors and the extent of the outbreak among household contacts of the daycare center attenders. Data were collected from persons exposed at the daycare center and their home contacts. Fecal samples from affected and non-affected daycare center attenders were analyzed for viruses causing acute gastroenteritis by RT-PCR. The percentage of households affected and the attack rates (AR) were calculated. The attack rates were compared using the rate ratio (RR) with 95% confidence intervals. Information was obtained from 245 people (76 attenders and 169 contacts) of whom 49 were clinical cases. Five HAstV-4, two HAstV-8 and three non-typable HAstV cases were identified (six from clinical cases and four from asymptomatic infected people). The global AR was 20% (41.2% in children aged < 2 years). Data were obtained from 67 households: 20 households of affected attenders and 47 of non-affected attendees. Household contacts of affected attenders had a higher AR (74.3%) than that of non-affected attendees (2.4%). We found asymptomatic infections amongst daycare attendees. The transmission of HAstV during the outbreak was not limited to the daycare center but extended to household contacts of both affected and non-affected attenders

Physicochemical and Microbiological Stability of Two Oral Solutions of Methadone Hydrochloride 10 mg/mL

In this article, we studied physicochemical and microbiological stability and determined the beyond-use date of two oral solutions of methadone in three storage conditions. For this, two oral solutions of methadone (10 mg/mL) were prepared, with and without parabens, as preservatives. They were packed in amber glass vials kept unopened until the day of the test, and in a multi-dose umber glass bottle opened daily. They were stored at 5 &plusmn; 3 &deg;C, 25 &plusmn; 2 &deg;C and 40 &plusmn; 2 &deg;C. pH, clarity, and organoleptic characteristics were obtained. A stability-indicating high-performance liquid chromatography method was used to determine methadone. Microbiological quality was studied and antimicrobial effectiveness testing was also determined following European Pharmacopoeia guidelines. Samples were analyzed at days 0, 7, 14, 21, 28, 42, 56, 70, and 91 in triplicate. After 91 days of storage, pH remained stable at about 6.5&ndash;7 in the two solutions, ensuring no risk of methadone precipitation. The organoleptic characteristics remained stable (colorless, odorless, and bitter taste). The absence of particles was confirmed. No differences were found with the use of preservatives. Methadone concentration remained within 95&ndash;105% in all samples. No microbial growth was observed. Hence, the two oral methadone solutions were physically and microbiologically stable at 5 &plusmn; 3 &deg;C, 25 &plusmn; 2 &deg;C, and 40 &plusmn; 2 &deg;C for 91 days in closed and opened amber glass bottles

Desarrollo del catálogo OSCAR y su difusión en diferentes ámbitos docentes

En convocatorias anteriores de los PIMCD se ha desarrollado un Catálogo de experiencias de cátedra para la docencia de Física General que cuenta actualmente con más de 40 experiencias en funcionamiento disponibles en el Laboratorio de Física General de la Facultad de Ciencias Físicas. Muchas de las experiencias son trasladables para su utilización en el aula. Cada una de las experiencias se acompaña de una ficha explicativa (con una foto, descripción,fundamento teórico, materiales y montaje…). Además, prácticamente todas (34) las experiencias disponen de material audiovisual (uno o dos vídeos que muestran la experiencia en funcionamiento y una explicación) en su mayor parte subtitulado en inglés. También muchas de ellas están acompañadas de un cuestionario destinado a los alumnos para el mejor aprovechamiento de la explicación de la experiencia o el vídeo en el aula o en procesos de autoaprendizaje online. El catálogo se completa con una página web institucional (http://www.ucm.es/theoscarlab) y un canal de YouTube (https://www.youtube.com/user/TheOscarlab) donde se muestran los vídeos y en la que se interactúa con los usuarios a través de comentarios y correos electrónicos. Las visitas al canal superan ya el número de 200.000 desde su creación en abril de 2012. Además, tradicionalmente las experiencias del catálogo se han utilizado en numerosas ediciones de la Semana de la Ciencia en la actividad “Jugando con la Física” y en visitas guiadas de alumnos de colegios, institutos y otros centros educativos a la Facultad de Ciencias Físicas. El catálogo resultante de este proyecto constituye la v versión más amplia y actualizada y refleja más fielmente las experiencias disponibles en el Laboratorio de Física General

The PANDEMYC Score. An Easily Applicable and Interpretable Model for Predicting Mortality Associated With COVID-19.

This study aimed to build an easily applicable prognostic model based on routine clinical, radiological, and laboratory data available at admission, to predict mortality in coronavirus 19 disease (COVID-19) hospitalized patients. We retrospectively collected clinical information from 1968 patients admitted to a hospital. We built a predictive score based on a logistic regression model in which explicative variables were discretized using classification trees that facilitated the identification of the optimal sections in order to predict inpatient mortality in patients admitted with COVID-19. These sections were translated into a score indicating the probability of a patient's death, thus making the results easy to interpret. Median age was 67 years, 1104 patients (56.4%) were male, and 325 (16.5%) died during hospitalization. Our final model identified nine key features: age, oxygen saturation, smoking, serum creatinine, lymphocytes, hemoglobin, platelets, C-reactive protein, and sodium at admission. The discrimination of the model was excellent in the training, validation, and test samples (AUC: 0.865, 0.808, and 0.883, respectively). We constructed a prognostic scale to determine the probability of death associated with each score. We designed an easily applicable predictive model for early identification of patients at high risk of death due to COVID-19 during hospitalization.S