Rules of thumbs are sometimes valid: very low BioC genetic diversity in two ENEs from Majorca Island (W Mediterranean)

Póster presentado en la XV Optima Meeting celebrada en Montpellier del día 6 al 11 de junio de 2016 -- http://www.optima2016.org/en/welcome-to-montpellier/Peer reviewe

Kalanchoe (Crassulaceae) as invasive aliens in China – new records, and actual and potential distribution

6 p., mapas. Post-print del artículo publicado en Journal of Biogeography. Versión revisada y corregida.Kalanchoe daigremontiana and K. delagoensis are reported for the first time from Sichuan and Hainan, China. For K. daigremontiana, a new population located in Chengdu downtown has been found, being the first one in western China and thus representing a significant range extension of this species within the country. For K. delagoensis, a new population has been observed in the Old Quarter of Haikou, being the southernmost population of this species in China. The distribution areas of both species in China are summarized based on a review of the literature, as well as that of their putative hybrid, K. × houghtonii. In addition, the potential range of K. delagoensis is estimated through a niche-based modelling approach. Finally, a key to taxa of Kalanchoe in China is provided.Z.-Q. Wang has benefited from China Postdoctoral Science Foundation funded project (2015M582547) and a postdoctoral fund of Sichuan University.Peer reviewe

Posicionament de vehicles en mapes mitjançant GPS

El projecte consisteix en el desenvolupament d'un algorisme que millori el posicionament final d'un sistema que adquireix les dades d'una antena de GPS estàndard. Aquest sistema en certs moments té pèrdua total de senyal GPS o rep senyal amb pertorbacions, derivant en un mal posicionament. Nosaltres hem proposat una solució que utilitza les coordenades del GPS, el filtre Kalman per resoldre els problemes de pertorbacions de senyal, bases de dades digitals geogràfiques per garantir la circulació del vehicle per sobre la carretera, i finalment combina la informació temporal de posicions anteriors i la de les bases de dades per posicionar el vehicle quan hi ha pèrdua total de senyal. Els experiments realitzats ens indiquen que s'obté una millora del posicionement.El proyecto consiste en el desarrollo de un algorismo que mejore el posicionamiento final de un sistema que adquiere los datos de una antena de GPS estándard. Este sistema en ciertos momentos tiene perdida total de señal o recibe señal con perturbaciones, derivando en un mal posicionamiento. Nosotros hemos propuesto una solución que utiliza las coordenadas del GPS, el filtro Kalman para resolver los problemas de perturbaciones de señal, las bases de datos digitales geográficas para garantizar la circulación del vehículo por encima de la carretera, y finalmente convina la información temporal de posiciones anteriores y la de las bases de datos para posicionar el vehículo quando hay pérdida total de señal. Los experimentos realizados nos indican que hemos obtenido una mejora en el posicionamiento.The project involves the development of an algorism to improve the final positioning of a system that acquires data from a standard GPS antena. This system sometimes lose all signal or it receive interference signal, resulting in a bad position. We have proposed a solution that uses GPS coordinates, the Kalman filter to solve the problems of signal interference, the digital geographic database to ensure the vehicle above the road and finally agreed the temporal infomation of previous positions and the databases to position the vehicle if there are total loss signal. The experiments indicate that an improvement is obtained in the position

Detectable clonal mosaicism in blood as biomarker of cancer risk in Fanconi anemia

Altres ajuts: Juan de la Cierva postdoctoral fellowship (JCI-2011-10660); Marató de TV3 (project 464/C/2012)Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA), could manifest a high rate of chromosomal mosaic events (CMEs) in peripheral blood, which could be used as early biomarkers of cancer risk. We studied the prevalence of CMEs by single-nucleotide polymorphism (SNP) array in 130 FA patients' blood DNA and their impact on cancer risk. We detected 51 CMEs (4.4-159 Mb in size) in 16 out of 130 patients (12.3%), of which 9 had multiple CMEs. The most frequent events were gains at 3q (n = 6) and 1q (n = 5), both previously associated with leukemia, as well as rearrangements with breakpoint clustering within the major histocompatibility complex locus (P = 7.3 × 10-9). Compared with 15?743 age-matched population controls, FA patients had a 126 to 140 times higher risk of detectable CMEs in blood (P < 2.2 × 10-16). Prevalent and incident hematologic and solid cancers were more common in CME carriers (odds ratio [OR] = 11.6, 95% confidence interval [CI] = 3.4-39.3, P = 2.8 × 10-5), leading to poorer prognosis. The age-adjusted hazard risk (HR) of having cancer was almost 5 times higher in FA individuals with CMEs than in those without CMEs. Regarding survival, the HR of dying was 4 times higher in FA individuals having CMEs (HR = 4.0, 95% CI = 2.0-7.9, P = 5.7 × 10-5). Therefore, our data suggest that molecular karyotyping with SNP arrays in easy-to-obtain blood samples could be used for better monitoring of bone marrow clonal events, cancer risk, and overall survival of FA patients

Clonal and genetic structure of Iris odaesanensis and Iris rossii (Iridaceae): insights of the Baekdudaegan Mountains as a glacial refugium for boreal and temperate plants

The main Korean mountain range that stretches from north to south (the Baekdudaegan) has been suggested to harbor an important glacial refugium for boreal and temperate plant species. Under this scenario, we expect high levels of within-population genetic variation and low or moderate degree of among-population differentiation within these species. To test this hypothesis, we examined clonal diversity and levels of allozyme diversity in the boreal Iris odaesanensis and in its temperate congener Iris rossii. In addition, we compiled data on boreal and temperate species whose distribution in the Korean Peninsula is mostly centered in the Baekdudaegan to determine if there is a common pattern. We found lower clonal diversity in I. odaesanensis compared to I. rossii. Both studied species maintained high levels of genetic variation as well as a moderate genetic differentiation (%P = 52.5 and 47.5, A = 1.70 and 1.58, H e = 0.158 and 0.150, and F ST = 0.196 and 0.189 for I. odaesanensis and I. rossii, respectively), in line with what occurs for the species distributed on the Baekdudaegan (n = 14, %P = 46.7, A = 1.73, H e = 0.161, and F ST = 0.190). This study strongly suggests that the Baekdudaegan may have acted as a refugium for boreal and temperate species, in a similar way to the southern Appalachians in the eastern United States

Improvement in detecting cytomegalovirus drug resistance mutations in solid organ transplant recipients with suspected resistance using next generation sequencing

Antiviral resistance; Solid organ transplant; Next-generation sequencingResistencia a los antivirales; Trasplante de órganos sólidos; Secuenciación de próxima generaciónResistència als antivirals; Trasplantament d'òrgans sòlids; Seqüenciació de pròxima generacióOBJETIVES: The aim of this study was to identify CMV drug resistance mutations (DRM) in solid organ transplant (SOT) recipients with suspected resistance comparing next-generation sequencing (NGS) with Sanger sequencing and assessing risk factors and the clinical impact of resistance. METHODS: Using Sanger sequencing as the reference method, we prospectively assessed the ability of NGS to detect CMV DRM in the UL97 and UL54 genes in a nationwide observational study from September 2013 to August 2016. RESULTS: Among 44 patients recruited, 14 DRM were detected by Sanger in 12 patients (27%) and 20 DRM were detected by NGS, in 16 (36%). NGS confirmed all the DRM detected by Sanger. The additional six mutations detected by NGS were present in <20% of the sequenced population, being located in the UL97 gene and conferring high-level resistance to ganciclovir. The presence of DRM by NGS was associated with lung transplantation (p = 0.050), the administration of prophylaxis (p = 0.039), a higher mean time between transplantation and suspicion of resistance (p = 0.038) and longer antiviral treatment duration before suspicion (p = 0.024). However, the latter was the only factor independently associated with the presence of DRM by NGS in the multivariate analysis (OR 2.24, 95% CI 1.03 to 4.87). CONCLUSIONS: NGS showed a higher yield than Sanger sequencing for detecting CMV resistance mutations in SOT recipients. The presence of DRM detected by NGS was independently associated with longer antiviral treatment.The present study was funded by Agency for Health Technology Assessment and Research and Ministerio de Economia y Competitividad, Instituto de Salud Carlos III (PS12/02131 and PI17/02150) and by the Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR, FI-DGR 2017, Grant No. 00794), which is supported by the Secretaria d'Universitats i Recerca (Economy and Knowledge Department, Generalitat de Catalunya), and co-funded by the European Social Fund and by Fundacio Marato TV3 project (201824). The study sponsor had no role in the collection, analysis, or interpretation of the data

Inadequate Weight Gain According to the Institute of Medicine 2009 Guidelines in Women with Gestational Diabetes: Frequency, Clinical Predictors, and the Association with Pregnancy Outcomes

Background: In the care of women with gestational diabetes mellitus (GDM), more attention is put on glycemic control than in factors such as gestational weight gain (GWG). We aimed to evaluate the rate of inadequate GWG in women with GDM, its clinical predictors and the association with pregnancy outcomes. Methods: Cohort retrospective analysis. Outcome variables: GWG according to Institute of Medicine 2009 and 18 pregnancy outcomes. Clinical characteristics were considered both as GWG predictors and as covariates in outcome prediction. Statistics: descriptive, multinomial and logistic regression. Results: We assessed 2842 women diagnosed with GDM in the 1985-2011 period. GWG was insufficient (iGWG) in 50.3%, adequate in 31.6% and excessive (eGWG) in 18.1%; length of follow-up for GDM was positively associated with iGWG. Overall pregnancy outcomes were satisfactory. GWG was associated with pregnancy-induced hypertension, preeclampsia, cesarean delivery and birthweight-related outcomes. Essentially, the direction of the association was towards a higher risk with eGWG and lower risk with iGWG (i.e., with Cesarean delivery and excessive growth). Conclusions: In this cohort of women with GDM, inadequate GWG was very common at the expense of iGWG. The associations with pregnancy outcomes were mainly towards a higher risk with eGWG and lower risk with iGWG

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

This is a pre-copyedited, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The version of record Human Molecular Genetics 22.16 (2013): 3296-3305 is available online at http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=23604518X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder of the nervous system characterized by axonopathy in spinal cords and/or cerebral demyelination, adrenal insufficiency and accumulation of very long-chain fatty acids (VLCFAs) in plasma and tissues. The disease is caused by malfunction of the ABCD1 gene, which encodes a peroxisomal transporter of VLCFAs or VLCFA-CoA. In the mouse, Abcd1 loss causes late onset axonal degeneration in the spinal cord, associated with locomotor disability resembling the most common phenotype in patients, adrenomyeloneuropathy. We have formerly shown that an excess of the VLCFA C26:0 induces oxidative damage, which underlies the axonal degeneration exhibited by the Abcd1(-) mice. In the present study, we sought to investigate the noxious effects of C26:0 on mitochondria function. Our data indicate that in X-ALD patients' fibroblasts, excess of C26:0 generates mtDNA oxidation and specifically impairs oxidative phosphorylation (OXPHOS) triggering mitochondrial ROS production from electron transport chain complexes. This correlates with impaired complex V phosphorylative activity, as visualized by high-resolution respirometry on spinal cord slices of Abcd1(-) mice. Further, we identified a marked oxidation of key OXPHOS system subunits in Abcd1(-) mouse spinal cords at presymptomatic stages. Altogether, our results illustrate some of the mechanistic intricacies by which the excess of a fatty acid targeted to peroxisomes activates a deleterious process of oxidative damage to mitochondria, leading to a multifaceted dysfunction of this organelle. These findings may be of relevance for patient management while unveiling novel therapeutic targets for X-ALDThis study was supported by grants from the European Commission (FP7-241622), the European Leukodystrophy Association (ELA2009-036C5; ELA2008-040C4), the Spanish Institute for Health Carlos III (FIS PI080991 and FIS PI11/01043), the Autonomous Government of Catalonia (2009SGR85) to A.P. and the Spanish Institute for Health Carlos III (Miguel Servet program CP11/00080) to S.F. The CIBER on Rare Diseases (CIBERER) is an initiative of the ISCIII. The study was developed under the COST action BM0604 (to A.P.). J.L.-E. was a fellow of the Department of Education, Universities and Research of the Basque Country Government (BFI07.126). S.F. was a fellow of the European Leukodystrophy Association (ELA 2010-020F1). The studies conducted at the Department of Experimental Medicine were supported in part by R&D grants from the Spanish Ministry of Science and Innovation (BFU2009-11879/BFI), the Spanish Ministry of Health (PI11/1532), the Autonomous Government of Catalonia (2009SGR735), the ‘La Caixa’ Foundation and COST B35 Action of the European Union. D.C. is a fellow from the Spanish Ministry of Health (FI08-00707). The studies conducted at the Department of Biochemistry and Molecular Biology, University of Barcelona, were supported by grants SAF2008-01896 and SAF2011-23636 from the Spanish Ministry of Science and Innovatio

¿Adelantan el diagnóstico de la diabetes tipo 2 los nuevos criterios de la Asociación Americana de Diabetes?

ObjetivoAnalizar el intervalo temporal entre la primera hiperglucemia basal ocasional (HBO) y el diagnóstico de diabetes mellitus tipo 2 (DM2) al aplicar los criterios de la OMS y de la Asociación Americana de Diabetes (ADA).DiseñoEstudio observacional, retrospectivo. Ámbito del estudio. Centro de atención primaria urbano.SujetosUn total de 104 pacientes con DM2, diagnosticados entre 1991 y 1995, con antecedentes de HBO.Mediciones o intervencionesEdad, género y otros factores de riesgo, fechas de la primera HBO (glucemia basal 3 110 mg/dl), del diagnóstico según criterios OMS (2 glucemias basales 3 140 mg/dl o 3 200 mg/dl a las 2 horas de la sobrecarga oral de glucosa [SOG]) y aplicando criterios ADA (2 glucemias basales 3 126 mg/dl) y los intervalos en meses entre ellas.ResultadosDe los 222 pacientes diagnosticados, 104 (47%) presentaban antecedentes de HBO. La edad en el momento del diagnóstico fue 60,8 años (DE, 10,1), siendo un 53% mujeres. En 51 casos (49%) se realizó SOG. La mediana (rango) del intervalo entre la primera HBO y el diagnóstico fue de 16 meses (0–101) en los que se realizó la SOG y de 45 (1–104) en los que no se practicó (p = 0,003). En estos últimos, los criterios ADA lo redujeron a 31 meses (0–97) (p < 0,001) y en 27 de ellos que no cumplían ambos criterios a la vez el intervalo fue de sólo 10 meses (0–93) (p < 0,001). Conclusiones. La no realización de la SOG comporta un retraso en el diagnóstico que puede ser contrarrestado con la aplicación de los criterios de la ADA.ObjectiveTo analyze the period of time between the first occasional fasting hyperglycaemia (OFH) and the diagnosis of type 2 diabetes mellitus (DM2), using the World Health Organization (WHO) criteria or the American Diabetes Association (ADA) criteria.DesignRetrospective, observational study.SettingUrban primary care centre.Subjects104 patients with DM2 diagnosed between 1991 and 1995 who had a previous OFH.MeasurementsAge, gender and other risk factors, dates of the first OFH (fasting plasma glucose 3 110 mg/dl), the diagnosis according to WHO criteria (2 fasting plasma glucose 3 140 mg/dl or 3 200 mg/dl two hours after the oral glucose test tolerance (OGTT)) or with the ADA criteria (2 fasting plasma glucose 3 126 mg/dl), and the intervals in months between them.ResultsOf the 222 diagnosed patients, 104 (47%) had previous OFH. Age at diagnosis was 60.8 (SD 10.1) and 53% were women. OGTT was performed in 51 cases (49%). The median (range) of the interval between the first OFH and diagnosis was 16 months (0–101) for those who were undertaken an OGTT, and 45 months (1–104) for those who were not (p = 0.003). In these last ones, ADA criteria reduced the interval to 31 months (0–97) (p < 0.001). In 27 of these patients who did not satisfy both criteria at the same time, ADA criteria reduced the interval to 10 months (0–93) (p < 0.001).ConclusionsNot performing the OGTT means a delay in diagnosis which can be countered by applying the ADA criteria