Laboratorio clínico de citogenética

Objetivo. Detectar anomalías cromosómicas que afectantanto el número de cromosomas como su estructurapara definir la etiología de la enfermedad permitiéndoleal clínico establecer posteriores planes de manejo yasesoramiento genético.Materiales y métodos. Para reconocer y detectarvariaciones inusuales en la morfología cromosómica,se aplican distintas técnicas de cultivo celular y bandeocromosómico. Entre ellas el laboratorio de citogenéticade la Universidad Nacional presta el servicio de:Cariotipo convencional bandeo C y G, Cariotipo dealta resolución cromosómica con bandeo Q, G y R,Cariotipo para evaluación de fragilidad cromosómica delcromosoma X, Cariotipo para evaluación de fragilidadcromosómica en presencia de mitomicina C (MMC),Cariotipo para evaluación de estados leucémicos(cromosoma Philadelphia), Cariotipo de líquidoamniótico.Resultados. Entre 2005 y 2013 se han atendidoaproximadamente 3000 pacientes que gracias a losdiagnósticos citogenéticos realizados por medio detécnicas citogenéticas convencionales y molecularesy a la unión con estrategias de prevención primordialy primaria (asesoría preconcepcional, diagnostico ytamizaje prenatal y neonatal), secundaria (diagnósticooportuno) y terciaria (guías de manejo anticipatorio) seha comprobado la mejora en la mortalidad, morbilidad,discapacidad, reducción en costos de aseguramientoy promoción de una mejoría en la calidad de vida delos pacientes, sus familias y los perfiles en salud de lacomunidad.Conclusiones. El acceso a los servicios de análisiscitogenético ha permitido detectar anomalías ydesarrollar estrategias de manejo adecuadas paralos pacientes atendidos y ha servido de base para lainvestigación y la enseñanza en la institución

Firefly: Embracing Future Web Technologies

At IPAC/Caltech, we have developed the Firefly web archive and visualization system. Used in production for the last eight years in many missions, Firefly gives the scientist significant capabilities to study data. Firefly provided the first completely web based FITS viewer as well as a growing set of tabular and plotting visualizers. Further, it will be used for the science user interface of the LSST telescope which goes online in 2021. Firefly must meet the needs of archive access and visualization for the 2021 LSST telescope and must serve astronomers beyond the year 2030. Recently, our team has faced the fact that the technology behind Firefly software was becoming obsolete. We were searching for ways to utilize the current breakthroughs in maintaining stability, testability, speed, and reliability of large web applications, which Firefly exemplifies. In the last year, we have ported the Firefly to cutting edge web technologies. Embarking on this massive overhaul is no small feat to say the least. Choosing the technologies that will maintain a forward trajectory in a future development project is always hard and often overwhelming. When a team must port 150,000 lines of code for a production-level product there is little room to make poor choices. This paper will give an overview of the most modern web technologies and lessons learned in our conversion from GWT based system to React/Redux based system

Finite-size and correlation-induced effects in Mean-field Dynamics

The brain's activity is characterized by the interaction of a very large number of neurons that are strongly affected by noise. However, signals often arise at macroscopic scales integrating the effect of many neurons into a reliable pattern of activity. In order to study such large neuronal assemblies, one is often led to derive mean-field limits summarizing the effect of the interaction of a large number of neurons into an effective signal. Classical mean-field approaches consider the evolution of a deterministic variable, the mean activity, thus neglecting the stochastic nature of neural behavior. In this article, we build upon two recent approaches that include correlations and higher order moments in mean-field equations, and study how these stochastic effects influence the solutions of the mean-field equations, both in the limit of an infinite number of neurons and for large yet finite networks. We introduce a new model, the infinite model, which arises from both equations by a rescaling of the variables and, which is invertible for finite-size networks, and hence, provides equivalent equations to those previously derived models. The study of this model allows us to understand qualitative behavior of such large-scale networks. We show that, though the solutions of the deterministic mean-field equation constitute uncorrelated solutions of the new mean-field equations, the stability properties of limit cycles are modified by the presence of correlations, and additional non-trivial behaviors including periodic orbits appear when there were none in the mean field. The origin of all these behaviors is then explored in finite-size networks where interesting mesoscopic scale effects appear. This study leads us to show that the infinite-size system appears as a singular limit of the network equations, and for any finite network, the system will differ from the infinite system

Clinical significance of VEGF-A, -C and -D expression in esophageal malignancies

Vascular endothelial growth factors ( VEGF)- A, - C and - D are members of the proangiogenic VEGF family of glycoproteins. VEGF-A is known to be the most important angiogenic factor under physiological and pathological conditions, while VEGF-C and VEGF-D are implicated in the development and sprouting of lymphatic vessels, so called lymphangiogenesis. Local tumor progression, lymph node metastases and hematogenous tumor spread are important prognostic factors for esophageal carcinoma ( EC), one of the most lethal malignancies throughout the world. We found solid evidence in the literature that VEGF expression contributes to tumor angiogenesis, tumor progression and lymph node metastasis in esophageal squamous cell carcinoma ( SCC), and many authors could show a prognostic value for VEGF-assessment. In adenocarcinoma (AC) of the esophagus angiogenic properties are acquired in early stages, particularly in precancerous lesions like Barrett's dysplasia. However, VEGF expression fails to give prognostic information in AC of the esophagus. VEGF-C and VEGF-D were detected in SCC and dysplastic lesions, but not in normal mucosa of the esophagus. VEGF-C expression might be associated with lymphatic tumor invasion, lymph node metastases and advanced disease in esophageal SCC and AC. Therapeutic interference with VEGF signaling may prove to be a promising way of anti-angiogenic co-treatment in esophageal carcinoma. However, concrete clinical data are still pending

Cancer cells exploit an orphan RNA to drive metastatic progression.

Here we performed a systematic search to identify breast-cancer-specific small noncoding RNAs, which we have collectively termed orphan noncoding RNAs (oncRNAs). We subsequently discovered that one of these oncRNAs, which originates from the 3' end of TERC, acts as a regulator of gene expression and is a robust promoter of breast cancer metastasis. This oncRNA, which we have named T3p, exerts its prometastatic effects by acting as an inhibitor of RISC complex activity and increasing the expression of the prometastatic genes NUPR1 and PANX2. Furthermore, we have shown that oncRNAs are present in cancer-cell-derived extracellular vesicles, raising the possibility that these circulating oncRNAs may also have a role in non-cell autonomous disease pathogenesis. Additionally, these circulating oncRNAs present a novel avenue for cancer fingerprinting using liquid biopsies

Thixotropic gel electrolyte containing poly(ethylene glycol) with high zinc ion concentration for the secondary aqueous Zn/ LiMn2O4 battery

The final publication is available at Elsevier via https://doi.org/10.1016/j.jelechem.2019.01.014 © 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/We have designed an aqueous gel electrolyte containing fumed silica as the thixotropic gelling agent and poly(ethylene glycol) (MW = 300 g·mol−1) as the non-thixotropic gelling agent. Poly(ethylene glycol) is also the dendrite suppressor and the corrosion inhibitor. Both PEG300 and fumed silica can inhibit dendrite formation, shown by chronoamperometry results and ex-situ scanning electron microscopy images. Furthermore, the corrosion current density on the Zn anode in the 4 wt%FS-1 wt%PEG300 gel electrolyte is 27% less than that of the Zn in the reference aqueous electrolyte. Secondary Zn/LiMn2O4 batteries using the 4 wt%FS-1 wt%PEG300 gel electrolyte exhibit higher cyclability (12% and 39% higher capacity retention, after 300 and 1000 cycles, in Swagelok and large cells, respectively) than those using the reference aqueous electrolyte. The vast improvements in cycling performance, reliability, and higher resistance to premature failure makes the PEG-FS gel a much better alternative to liquid electrolytes for maintenance-free energy storage applications.Positec Canada Ltd, Mitac

Targeted prevention of common mental health disorders in university students: randomised controlled trial of a transdiagnostic trait-focused web-based intervention

Background: A large proportion of university students show symptoms of common mental disorders, such as depression, anxiety, substance use disorders and eating disorders. Novel interventions are required that target underlying factors of multiple disorders.<p></p> Aims: To evaluate the efficacy of a transdiagnostic trait-focused web-based intervention aimed at reducing symptoms of common mental disorders in university students.<p></p> Method: Students were recruited online (n = 1047, age: M = 21.8, SD = 4.2) and categorised into being at high or low risk for mental disorders based on their personality traits. Participants were allocated to a cognitive-behavioural trait-focused (n = 519) or a control intervention (n = 528) using computerised simple randomisation. Both interventions were fully automated and delivered online (trial registration: ISRCTN14342225). Participants were blinded and outcomes were self-assessed at baseline, at 6 weeks and at 12 weeks after registration. Primary outcomes were current depression and anxiety, assessed on the Patient Health Questionnaire (PHQ9) and Generalised Anxiety Disorder Scale (GAD7). Secondary outcome measures focused on alcohol use, disordered eating, and other outcomes.<p></p> Results: Students at high risk were successfully identified using personality indicators and reported poorer mental health. A total of 520 students completed the 6-week follow-up and 401 students completed the 12-week follow-up. Attrition was high across intervention groups, but comparable to other web-based interventions. Mixed effects analyses revealed that at 12-week follow up the trait-focused intervention reduced depression scores by 3.58 (p<.001, 95%CI [5.19, 1.98]) and anxiety scores by 2.87 (p = .018, 95%CI [1.31, 4.43]) in students at high risk. In high-risk students, between group effect sizes were 0.58 (depression) and 0.42 (anxiety). In addition, self-esteem was improved. No changes were observed regarding the use of alcohol or disordered eating.<p></p> Conclusions This study suggests that a transdiagnostic web-based intervention for university students targeting underlying personality risk factors may be a promising way of preventing common mental disorders with a low-intensity intervention

IRSA's New Look: Design Considerations

The NASA/IPAC Infrared Science Archive (IRSA) undertook a major upgrade to its website and user experience this year. The work was motivated by the need to facilitate access to a growing number of astronomical data sets and exploration tools. The guiding principle of the redesign was to focus on the most important items, while providing easy access to the full set of IRSA's holdings and services. We discuss the redesign process and the key features of the new website

Asymptotic Regge Trajectories of Non-strange Mesons

We analyze the asymptotic behavior of Regge trajectories of non-strange mesons. In contrast to an existing belief, it is demonstrated that for the asymptotically linear Regge trajectories the width of heavy hadrons cannot linearly depend on their mass. Using the data on masses and widths of rho_J, omega_J, a_J and f_J mesons for the spin values J \leq 6, we extract the parameters of the asymptotically linear Regge trajectory predicted by the finite width model of quark gluon bags. As it is shown the obtained parameters for the data set B correspond to the cross-over temperature lying in the interval 170.9-175.3 MeV which is consistent with the kinetic freeze-out temperature of early hadronizing particles found in relativistic heavy ion collisions at and above the highest SPS energy.Comment: 14 pages, 3 figure

Accuracy of Malaria Rapid Diagnostic Tests in Community Studies and their Impact on Treatment of Malaria in an Area with Declining Malaria Burden in North-Eastern Tanzania.

Despite some problems related to accuracy and applicability of malaria rapid diagnostic tests (RDTs), they are currently the best option in areas with limited laboratory services for improving case management through parasitological diagnosis and reducing over-treatment. This study was conducted in areas with declining malaria burden to assess; 1) the accuracy of RDTs when used at different community settings, 2) the impact of using RDTs on anti-malarial dispensing by community-owned resource persons (CORPs) and 3) adherence of CORPs to treatment guidelines by providing treatment based on RDT results. Data were obtained from: 1) a longitudinal study of passive case detection of fevers using CORPs in six villages in Korogwe; and 2) cross-sectional surveys (CSS) in six villages of Korogwe and Muheza districts, north-eastern, Tanzania. Performance of RDTs was compared with microscopy as a gold standard, and factors affecting their accuracy were explored using a multivariate logistic regression model. Overall sensitivity and specificity of RDTs in the longitudinal study (of 23,793 febrile cases; 18,154 with microscopy and RDTs results) were 88.6% and 88.2%, respectively. In the CSS, the sensitivity was significantly lower (63.4%; χ2=367.7, p<0.001), while the specificity was significantly higher (94.3%; χ2=143.1, p<0.001) when compared to the longitudinal study. As determinants of sensitivity of RDTs in both studies, parasite density of<200 asexual parasites/μl was significantly associated with high risk of false negative RDTs (OR≥16.60, p<0.001), while the risk of false negative test was significantly lower among cases with fever (axillary temperature ≥37.5 °C) (OR≤0.63, p≤0.027). The risk of false positive RDT (as a determinant of specificity) was significantly higher in cases with fever compared to afebrile cases (OR≥2.40, p<0.001). Using RDTs reduced anti-malarials dispensing from 98.9% to 32.1% in cases aged ≥5 years. Although RDTs had low sensitivity and specificity, which varied widely depending on fever and parasite density, using RDTs reduced over-treatment with anti-malarials significantly. Thus, with declining malaria prevalence, RDTs will potentially identify majority of febrile cases with parasites and lead to improved management of malaria and non-malaria fevers