We present the discovery and mass measurement of the cold, low-mass planet MOA-2009-BLG-266Lb, performed with the gravitational microlensing method. This planet has a mass of mp = 10.4 ? 1.7 ...M{circled plus} and orbits a star of mass M = 0.56 ? 0.09 M at a semimajor axis of AU and an orbital period of yrs. The planet and host star mass measurements are enabled by the measurement of the microlensing parallax effect, which is seen primarily in the light curve distortion due to the orbital motion of the Earth. But the analysis also demonstrates the capability to measure the microlensing parallax with the Deep Impact (or EPOXI) spacecraft in a heliocentric orbit. The planet mass and orbital distance are similar to predictions for the critical core mass needed to accrete a substantial gaseous envelope, and thus may indicate that this planet is a 'failed' gas giant. This and future microlensing detections will test planet formation theory predictions regarding the prevalence and masses of such planets.
We present the analysis of four candidate short-duration binary microlensing events from the 2006-2007 MOA Project short-event analysis. Three of these events are determined to be microlensing ...events, while the fourth is most likely caused by stellar variability. One of these events, MOA-bin-1, is due to a planet, and it is the first example of a planetary event in which the stellar host is only detected through binary microlensing effects. This is one of the most massive and widest separation planets found by microlensing. The scarcity of such wide-separation planets also has implications for interpretation of the isolated planetary mass objects found by this analysis. In particular, if the entire isolated planet sample found by Sumi et al. consists of planets bound in wide orbits around stars, we find that it is likely that the median orbital semimajor axis is <30 AU.
Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human ...diseases including epilepsy. Whole‐exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants in known epilepsy‐associated genes to further validate CNVs using 2 different CNV detection tools using WES data. We confirmed 18 pathogenic CNVs, and 2 deletions and 2 duplications at chr15q11.2 of clinically unknown significance. Of note, we were able to identify small CNVs less than 10 kb in size, which might be difficult to detect by conventional microarray. We revealed 2 cases with pathogenic CNVs that one of the 2 CNV detection tools failed to find, suggesting that using different CNV tools is recommended to increase diagnostic yield. Considering a relatively high discovery rate of CNVs (18 out of 168 families, 10.7%) and successful detection of CNV with <10 kb in size, CNV detection by WES may be able to surrogate, or at least complement, conventional microarray analysis.
Whole‐exome sequencing (WES) was performed in a total of 294 families with epilepsy. Then, WES‐based copy number variation (CNV) detection in 168 families were conducted after excluding 126 families with causative single nucleotide variants, and 18 families with pathogenic CNVs were identified. CNVs were detected in 2 ways: (1) 2‐step detection: eXome Hidden Markov Model (XHMM) and subsequent Nord's method (left in a dotted box) and (2) Nord's method targeting 303 epilepsy genes (right in a dotted box). Seventeen and one pathogenic CNVs were detected by methods (1) and (2), respectively.
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep ...interpeduncular fossa which is defined by neuroimaging and is termed the ‘molar tooth sign’. JS is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of JS, we performed whole‐exome sequencing in 24 newly recruited JS families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24 + 6) families (83.3%). We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012‐12T>A (75.0%), an allele that has not been reported in non‐Japanese populations. Therefore c.6012‐12T>A is a common allele in the Japanese population. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). BBS1 is the causative gene in Bardet–Biedl syndrome. These concomitant mutations led to severe and/or complex clinical features in the patients, suggesting combined effects of different mutant genes.
This study reports the development of a loop‐mediated isothermal amplification (LAMP) reaction for the detection of Pythium myriotylum. The primer set targeting the ITS sequence of P. myriotylum ...worked most efficiently at 60°C and allowed the detection of P. myriotylum DNA within 30 min by fluorescence monitoring using a real‐time PCR instrument. The peak denaturing temperature of amplified DNA was about 87·0°C. In specificity tests using eight Pythium myriotylum strains, 59 strains from 39 species of Pythium, 11 Phytophthora strains and eight other soil‐borne pathogens, LAMP gave no cross‐reactions. The detection limit was 100 fg of genomic DNA, which was as sensitive as PCR. LAMP could detect P. myriotylum in hydroponic solution samples, and the results coincided with those of the conventional plating method in almost all cases. The LAMP method established in this study is a simple and sensitive tool for the detection of P. myriotylum. SIGNIFICANCE AND IMPACT OF THE STUDY: This study shows the first LAMP assay for the detection of Pythium myriotylum. The primer set designed from ITS region of P. myriotylum can detect the pathogen in field sample with a fast and convenient method. Analysis of the annealing curve of the LAMP reaction products increases the reliability of the LAMP diagnosis. This study shows that the diagnostic method using the LAMP assay is useful for monitoring P. myriotylum in the field.
We report the detection of an extrasolar planet of mass ratio image in microlensing event MOA-2007-BLG-192. The best-fit microlensing model shows both the microlensing parallax and finite source ...effects, and these can be combined to obtain the lens masses of image for the primary and image for the planet. However, the observational coverage of the planetary deviation is sparse and incomplete, and the radius of the source was estimated without the benefit of a source star color measurement. As a result, the 2 capital sigma limits on the mass ratio and finite source measurements are weak. Nevertheless, the microlensing parallax signal clearly favors a substellar mass planetary host, and the measurement of finite source effects in the light curve supports this conclusion. Adaptive optics images taken with the Very Large Telescope (VLT) NACO instrument are consistent with a lens star that is either a brown dwarf or a star at the bottom of the main sequence. Follow-up VLT and/or Hubble Space Telescope (HST) observations will either confirm that the primary is a brown dwarf or detect the low-mass lens star and enable a precise determination of its mass. In either case, the lens star, MOA-2007-BLG-192L, is the lowest mass primary known to have a companion with a planetary mass ratio, and the planet, MOA-2007-BLG-192Lb, is probably the lowest mass exoplanet found to date, aside from the lowest mass pulsar planet.
Context. The Bulge is the least understood major stellar population of the Milky Way. Most of what we know about the formation and evolution of the Bulge comes from bright giant stars. The underlying ...assumption that giants represent all the stars, and accurately trace the chemical evolution of a stellar population, is under debate. In particular, recent observations of a few microlensed dwarf stars give a very different picture of the evolution of the Bulge from that given by the giant stars. Aims. We aim to resolve the apparent discrepancy between Bulge metallicity distributions derived from microlensed dwarf stars and giant stars. Additionally, we aim to put observational constraints on the elemental abundance trends and chemical evolution of the Bulge. Methods. We perform a detailed elemental abundance analysis of dwarf stars in the Galactic bulge, based on high-resolution spectra that were obtained while the stars were optically magnified during gravitational microlensing events. The analysis method is the same as for a large sample of F and G dwarf stars in the Solar neighbourhood, enabling a fully differential comparison between the Bulge and the local stellar populations in the Galactic disc. Results. We present detailed elemental abundances and stellar ages for six new dwarf stars in the Galactic bulge. Combining these with previous events, here re-analysed with the same methods, we study a homogeneous sample of 15 stars, which constitute the largest sample to date of microlensed dwarf stars in the Galactic bulge. We find that the stars span the full range of metallicities from Fe/H = -0.72 to +0.54, and an average metallicity of $\langle$ Fe/H$\rangle$ = -0.08 ± 0.47, close to the average metallicity based on giant stars in the Bulge. Furthermore, the stars follow well-defined abundance trends, that for Fe/H<0 are very similar to those of the local Galactic thick disc. This suggests that the Bulge and the thick disc have had, at least partially, comparable chemical histories. At sub-solar metallicities we find the Bulge dwarf stars to have consistently old ages, while at super-solar metallicities we find a wide range of ages. Using the new age and abundance results from the microlensed dwarf stars we investigate possible formation scenarios for the Bulge.
Platypnea-orthodeoxia syndrome (POS) is a rare disorder associated with coronavirus disease 2019 (COVID-19) pneumonia. However, POS may be underdiagnosed. We report the case of a 59-year-old female ...patient with POS complicated by pulmonary embolism in COVID-19. Imaging revealed ground-glass opacities predominantly in the lower lobes and a pulmonary embolus in the right upper lobe. She was diagnosed with POS due to marked postural discrepancies between supine and upright oxygen saturations and blood oxygenation. Intracardiac shunt, one of the etiologies of POS, was not detected by bubble contrast echocardiography, and postural de-saturation gradually improved with methylprednisolone and edoxaban administration. In our literature review, only 3 of the 16 patients with POS associated with COVID-19 had cardiac shunting, suggesting that moderate to severe COVID-19 causes POS without cardiac shunts. COVID-19-associated vasculopathy and lower lung lesion predominance in COVID-19 pneumonia may cause ventilation-perfusion mismatch due to gravitational shunting of blood into the poorly ventilated lower lungs in the upright position, which may ultimately cause POS. Hypoxemia impedes rehabilitation, whereas early initiation of supine positioning in bed, with knowledge of the pathophysiology of POS, may have a positive effect.
We report the detection of the cool, Jovian-mass planet MOA-2007-BLG-400Lb. The planet was detected in a high-magnification microlensing event (with peak magnification A max = 628) in which the ...primary lens transited the source, resulting in a dramatic smoothing of the peak of the event. The angular extent of the region of perturbation due to the planet is significantly smaller than the angular size of the source, and as a result the planetary signature is also smoothed out by the finite source size. Thus, the deviation from a single-lens fit is broad and relatively weak (approximately few percent). Nevertheless, we demonstrate that the planetary nature of the deviation can be unambiguously ascertained from the gross features of the residuals, and detailed analysis yields a fairly precise planet/star mass ratio of , in accord with the large significance () of the detection. The planet/star projected separation is subject to a strong close/wide degeneracy, leading to two indistinguishable solutions that differ in separation by a factor of ~8.5. Upper limits on flux from the lens constrain its mass to be M < 0.75 M (assuming that it is a main-sequence star). A Bayesian analysis that includes all available observational constraints indicates a primary in the Galactic bulge with a mass of ~0.2-0.5 M and thus a planet mass of ~0.5-1.3 M Jup. The separation and equilibrium temperature are ~5.3-9.7 AU (~0.6-1.1 AU) and ~34 K (~103 K) for the wide (close) solution. If the primary is a main-sequence star, follow-up observations would enable the detection of its light and so a measurement of its mass and distance.
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