CoRoT-TESS eclipsing binaries with light-travel-time effect

Identifying long-period eclipsing binaries with space-based photometry is still a challenge even in the century of space telescopes due to the relatively short observation sequences and short lifetime of these missions. The Transiting Exoplanet Survey Satellite (TESS) space telescope is an appropriate tool to supplement previous space-based observations. In this paper we report the first results of the eclipse timing variation (ETV) analyses of eclipsing binaries (EBs) measured by CoRoT and TESS space telescopes. Among the 1428 EB candidates we found 4 new potential triple candidates, for which ETV was analysed and fitted by the well-known light-travel-time effect (LTTE). One of them shows significant phase shift in its folded light curve which required extra care. In this paper we also present some other systems showing significant ETV signals that could be explained by mass transfer or apsidal motion.Comment: 6 pages, 5 figures, accepted for publication in MNRAS. Table 3 is available as online supplementary materia

Web-based Integrated Development Environment for Event-Driven Applications

Event-driven programming is a popular methodology for the development of resource-constrained embedded systems. While it is a natural abstraction for applications that interface with the physical world, the disadvantage is that the control flow of a program is hidden in the maze of event handlers and call-back functions. TinyOS is a representative event-driven operating system, designed for wireless sensor networks, featuring a component-based architecture that promotes code reuse. In this paper, we present a web-based model-driven graphical design environment for TinyOS that visualizes the component hierarchy of an application, and captures its eventbased scheduling mechanism. In contrast with existing visual environments, our representation explicitly captures the control flow of the application through events and commands, which makes it easier to understand the program logic than studying the source code. The design environment supports two-way code generation: mapping the visual representation to TinyOS source code, as well as building visual models from existing sources

A SHOX géndeletio előfordulása idiopathiás alacsonynövésben

INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. AIM: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. METHOD: A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. RESULTS: 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. CONCLUSIONS: The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351-1356

A family presenting with multiple endocrine neoplasia type 2B: A case report

<p>Abstract</p> <p>Introduction</p> <p>Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. Gangliomatosis of the gastrointestinal tract and its complications may also occur in patients with this disease.</p> <p>Case presentation</p> <p>We present the case of a 16-year-old Persian man diagnosed as having a non-invasive form of multiple endocrine neoplasia 2B (medullary thyroid cancer, mucosal neuroma of the tongue, lips and inner eyelids). Our patient, who had a positive family history of medullary thyroid cancer, was of normal height with no signs of marfanoid habitus.</p> <p>Conclusions</p> <p>Ophthalmological and oral manifestations of multiple endocrine neoplasia 2B, as in the case of our patient, are rare presentations of the disease; unfortunately in the case of our patient his condition had not been noted and acted upon until he presented to our department. The diagnosis in our patient's case was made only after his mother presented with the same condition. As a result, we emphasize that physicians should pay more attention to the oral and ocular signs of multiple endocrine neoplasia 2B in order to diagnose this fatal syndrome at an earlier phase.</p

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

PURPOSE: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. METHODS: We performed exome and/or Sanger sequencing in 145 individuals with 46,XY DSD of unknown etiology including gonadal dysgenesis and TRS. RESULTS: Thirteen children carried heterozygous missense pathogenic variants involving the RNA helicase DHX37, which is essential for ribosome biogenesis. Enrichment of rare/novel DHX37 missense variants in 46,XY DSD is highly significant compared with controls (P value = 5.8 × 10-10). Five variants are de novo (P value = 1.5 × 10-5). Twelve variants are clustered in two highly conserved functional domains and were specifically associated with gonadal dysgenesis and TRS. Consistent with a role in early testis development, DHX37 is expressed specifically in somatic cells of the developing human and mouse testis. CONCLUSION: DHX37 pathogenic variants are a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and TRS, showing that these conditions are part of a clinical spectrum. This raises the possibility that some forms of DSD may be a ribosomopathy

The First Post-Kepler Brightness Dips of KIC 8462852

We present a photometric detection of the first brightness dips of the unique variable star KIC 8462852 since the end of the Kepler space mission in 2013 May. Our regular photometric surveillance started in October 2015, and a sequence of dipping began in 2017 May continuing on through the end of 2017, when the star was no longer visible from Earth. We distinguish four main 1-2.5% dips, named "Elsie," "Celeste," "Skara Brae," and "Angkor", which persist on timescales from several days to weeks. Our main results so far are: (i) there are no apparent changes of the stellar spectrum or polarization during the dips; (ii) the multiband photometry of the dips shows differential reddening favoring non-grey extinction. Therefore, our data are inconsistent with dip models that invoke optically thick material, but rather they are in-line with predictions for an occulter consisting primarily of ordinary dust, where much of the material must be optically thin with a size scale <<1um, and may also be consistent with models invoking variations intrinsic to the stellar photosphere. Notably, our data do not place constraints on the color of the longer-term "secular" dimming, which may be caused by independent processes, or probe different regimes of a single process

Update in Molecular Biology for Teachers from Public Schools: a Knowledge Exchange Experience.

One  of the goals of the graduate Program in Molecular Biology from UNIFESP (PrMB -UNIFESP) is to contribute for continuing education of biology teachers from public high schools. A close relation between university and public schools is an important channel for dissemination of scientific knowledge. Thus, a 40h Molecular Biology updating course was offered to 20 high school teachers. The objective was to discuss genomic and proteomic advances and their application. The course was organized by graduate students  from PrMB -UNIFESP. Three groups ofstudents were formed, two being responsible for theorical and practical classes and one for global logistic including searching for financial support. The themes presented to the teachers were flow of genetic information,  recombinant DNA, gene cloning, transgenic plants and animals, mutation, super bacteria and stem cell. The teachers also had hands-on classes including DNA extraction, PCR, gene cloning and SDS-PAGE. The teachers received an assignment to go back to their s chools and do some activity with their students that would be related to the themes discussed. The students produced videos, discussions, posters, theater, experimental models and pratical classes related to the course themes. After 3 months the teachers r eturned to show their students’ work.  We conclude that information was transmitted to the teachers, updating them, and to high school students, that learned science in a entertaining way. Also, the graduate students had an experience on how to organize a c ourse including all its responsibilities