Inborn errors of metabolism : experience of thirteen years of study in Cartagena de Indias, Colombia.

Revista Ciencias Biomédicas Vol.10, Núm.2 (2021) Pag. 98-108Introducción: los Errores Innatos del Metabolismo son trastornos causados por mutaciones, y aunque son enfermedades raras, su diagnóstico oportuno puede mejorar la calidad de vida de los pacientes. Objetivo: detectar y describir Errores Innatos del Metabolismo, en pacientes pediátricos con sintomatología sospechosa en un hospital de referencia de la ciudad de Cartagena de Indias, Colombia. Métodos: se estudió una población de pacientes pediátricos durante el período comprendido entre los años 2002 a 2015, con base en la impresión clínica. Se realizaron pruebas para aminoácidos, ácidos orgánicos, carbohidratos, lípidos, ácido úrico, mucopolisacáridos, enzimas y estudios de biología molecular. Resultados: se realizaron pruebas de tamización a 354 pacientes pediátricos con sintomatología sospechosa para Errores Innatos del Metabolismo. Se ncontraron 11 casos con alta sospecha de mucopolisacaridosis, 7 casos con alta sospecha de glucogenosis, 1 caso con diagnóstico confirmado de fenilcetonuria, 1 caso con diagnóstico confirmado de tirosinemia tipo 1, 1 caso con alta sospecha de homocistinuria, 1 caso con alta sospecha de albinismo y 1 caso con alta sospecha enfermedad de Niemann-Pick C. Conclusiones: en Cartagena de Indias, los Errores Innatos del Metabolismo siguen siendo enfermedades huérfanas con muchas dificultades, debido a que no están aprobadas las tamizciones de las mismas por los entes gubernamentales. Estos resultados alertan sobre la necesidad de implementar tamizaciones masivas con el objetivo de confirmar los diagnósticos de los Errores Innatos del Metabolismo más frecuentes por zonas de estudio y así poder detectarlos a tiempo y mejorar la calidad de vida de los pacientes con el tratamiento temprano y oportuno

Unimpaired formation of hormone-stimulated inositol triphosphate in human mesangial cells under hyperglycemic conditions

The relationship between bulk cellular myo-inositol content and phosphatidylinositol metabolism was evaluated in a human mesangial cell line under euglycemic and hyperglycemic conditions. Mesangial cells maintained in high glucose medium displayed a concentration-dependent fall in myo-inositol as measured by gas-liquid chromatography. Measurements of phosphatidylinositol, phosphatidylinositol 4-monophosphate and phosphatidylinositol 4,5-biphosphate mass revealed slight but statistically insignificant increases in cells exposed to high glucose containing medium. CDP-diacylglycerol: myo-inositol 3-phosphatidylinositol transferase activity, measured in plasma membranes from mesangial cells grwon under control and hyperglycemic conditions, was kinetically similar with Michaelis constants (Km values) for myo-inositol of 2.9 and 2.1 mM, respectively. Finally hormone-stimulated intracellular calcium mobilization and myo-inositol 1,4,5-triphosphate mass was measured from mesangial cells grown under normal and hyperglycemic conditions. Both intracellular calcium and inositol triphosphate formation were unchanged in cells previously exposed to high glucose conditions (400 mg/dl) compared to cells grown under normal glucose concentration (100 mg/dl). These data indicate that bulk changes in myo-inositol induced by hyperglycemia are neither associated with alterations in basal levels of inositol containing glycerolipids nor with changes in hormone-stimulated calcium mobilization and inositol trisphosphate formation under conditions of short term changes in extracellular glucose.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/30148/1/0000525.pd

Pla especial urbanístic d'establiments de concurrència pública i altres activitats al barri de Sant Antoni

Sol·licitant de l’informe: Gerència Adjunta d'UrbanismeDocument per a l'aprovació definitiv

MPGM per a la renovació de les àrees industrials del Poble Nou : Barcelona

Sol·licitant de l’informe: Gerència d'Urbanism

Study protocol for the groin wound infection after vascular exposure (GIVE) audit and multicentre cohort study

Introduction Surgical site infections (SSI) following groin incision for arterial exposure are commonplace and a significant cause of morbidity and mortality following major arterial surgery. Published incidence varies considerably. The primary aim of GIVE will be to compare individual units’ practice with established guidelines from The National Institute for Health and Care Excellence (NICE). Secondary aims will be to describe the contemporary rate of SSI in patients undergoing groin incision for arterial exposure, to identify risk factors for groin wound infection, to examine the value of published tools in the prediction of SSI, to identify areas of equipoise which could be examined in future efficacy/effectiveness trials and to compare UK SSI rates with international centres. Methods and analysis This international, multicentre, prospective observational study will be delivered via the Vascular and Endovascular Research Network (VERN). Participating centres will identify all patients undergoing clean emergency or elective groin incision(s) for arterial intervention during a consecutive 3-month period. Follow up data will be captured at 90 days after surgery. SSIs will be defined according as per the Centres for Disease Control and Prevention (CDC) criteria. Data will be gathered centrally using an anonymised electronic data collection tool or secure email transfer. Ethics and dissemination This study will be registered as a clinical audit at all participating UK centres; research ethics approval is not required. National leads will oversee the appropriate registration and approvals in countries outside the UK as required. Site specific reports of SSI rates will be provided to each participating centre. Study results will be disseminated locally at each site, publicised on social media and submitted for peer-reviewed publication

Supplementary Data 3 - Study sites: location, population wing length, monitoring method, tide

------------------------------------------------------------------------------------------------------ Description of the dataset "Supplementary Data 3 - Study sites.csv" -------------------------------------------------------------------------------------------------------- The dataset - is used in the paper "Unexpected diversity in socially synchronized rhythms of shorebirds" Nature 2016 by M. Bulla et al - contains estimates of mean female and male wing length for each population of biparental shorebirds from a specific study site, plus the locations of the study site, whether the locations had tide, and whether the tide was used by the population for foraging, and how the incubation was monitored. -------------------------------------------------------------------------------------------------------- Questions can be directed to: Martin Bulla ([email protected]) -------------------------------------------------------------------------------------------------------- Values are separated by comma. -------------------------------------------------------------------------------------------------------- 1. scinam : scientific name of the species 2. sp : four letter abbreviation of the species's English name 3. study_site : name of the study site 4. site_abbreviation : four letter abbreviation of the study site 5. type : was the study site at the breeding ground (breeding) or not (wintering) 6. lat : latitude of the study site (decimal) 7. lon : longitude of the study site (decimal) 8. tidal_habitat : is the study site at primarily tidal habitat (y=yes, n=no) 9. tidal_used : if the study site is at primarily tidal habitat, do the birds use it for foraging (y=yes, n=no) 10. incubation_monitoring : method used to monitor incubation (for details see the paper's Extended Data Table 4) 11. sexing_method : identifies the method used to sex individuals to estimate the mean female and male wing length 12. pop_wing_f : mean female wing length for the population 13. f_wing_N : sample size used for the female mean estimate 14. pop_wing_m : mean male wing length for the population 15. m_wing_N : sample size used for the male mean estimate 16. data_source : is the mean wing estimate based on the primary data ("our primary data") or literature (citation)) -------------------------------------------------------------------------------------------------------- WHEN USING THIS DATA, PLEASE CITE: Bulla et al (2016). Supplementary Data 3 - Study sites: location, population wing length, monitoring method, tide. figshare. https://doi.org/10.6084/m9.figshare.1536260. Retrieved ADD DATETIME. -------------------------------------------------------------------------------------------------------

Guía Clínica Española del Acceso Vascular para Hemodiálisis

El acceso vascular para hemodiálisis es esencial para el enfermo renal tanto por su morbimortalidad asociada como por su repercusión en la calidad de vida. El proceso que va desde la creación y mantenimiento del acceso vascular hasta el tratamiento de sus complicaciones constituye un reto para la toma de decisiones debido a la complejidad de la patología existente y a la diversidad de especialidades involucradas. Con el fin de conseguir un abordaje consensuado, el Grupo Español Multidisciplinar del Acceso Vascular (GEMAV), que incluye expertos de las cinco sociedades científicas implicadas (nefrología [S.E.N.], cirugía vascular [SEACV], radiología vascular e intervencionista [SERAM-SERVEI], enfermedades infecciosas [SEIMC] y enfermería nefrológica [SEDEN]), con el soporte metodológico del Centro Cochrane Iberoamericano, ha realizado una actualización de la Guía del Acceso Vascular para Hemodiálisis publicada en 2005. Esta guía mantiene una estructura similar, revisando la evidencia sin renunciar a la vertiente docente, pero se aportan como novedades, por un lado, la metodología en su elaboración, siguiendo las directrices del sistema GRADE con el objetivo de traducir esta revisión sistemática de la evidencia en recomendaciones que faciliten la toma de decisiones en la práctica clínica habitual y, por otro, el establecimiento de indicadores de calidad que permitan monitorizar la calidad asistencial.Vascular access for haemodialysis is key in renal patients both due to its associated morbidity and mortality and due to its impact on quality of life. The process, from the creation and maintenance of vascular access to the treatment of its complications, represents a challenge when it comes to decision-making, due to the complexity of the existing disease and the diversity of the specialities involved. With a view to finding a common approach, the Spanish Multidisciplinary Group on Vascular Access (GEMAV), which includes experts from the five scientific societies involved (nephrology [S.E.N.], vascular surgery [SEACV], vascular and interventional radiology [SERAM-SERVEI], infectious diseases [SEIMC] and nephrology nursing [SEDEN]), along with the methodological support of the Cochrane Center, has updated the Guidelines on Vascular Access for Haemodialysis, published in 2005. These guidelines maintain a similar structure, in that they review the evidence without compromising the educational aspects. However, on one hand, they provide an update to methodology development following the guidelines of the GRADE system in order to translate this systematic review of evidence into recommendations that facilitate decision-making in routine clinical practice, and, on the other hand, the guidelines establish quality indicators which make it possible to monitor the quality of healthcare