Cardiac hemangioma of the right atrium in a neonate : fetal management and expedited surgical resection

Cardiac hemangioma is a rare tumor with a reported incidence of 1-2%. We describe the case of a neonate with a right atrial mass that was diagnosed prenatally. The fetus developed a supraventricular tachycardia and was delivered by cesarean section in the 35th week of gestation. The infant underwent surgery after 24 hours to remove the mass which was diagnosed as a cardiac capillary-cavernous hemangioma.peer-reviewe

New HST WFC3/UVIS observations augment the stellar-population complexity of omega Centauri

We used archival multi-band Hubble Space Telescope observations obtained with the Wide-Field Camera 3 in the UV-optical channel to present new important observational findings on the color-magnitude diagram (CMD) of the Galactic globular cluster omega Centauri. The ultraviolet WFC3 data have been coupled with available WFC/ACS optical-band data. The new CMDs, obtained from the combination of colors coming from eight different bands, disclose an even more complex stellar population than previously identified. This paper discusses the detailed morphology of the CMDs.Comment: 17 pages, 14 figures (11 in low res), 3 tables. Accepted for publication in AJ on June 19, 201

Health utilities and parental quality of life effects for three rare conditions tested in newborns

Abstract Background Measurement of health utilities is required for economic evaluations. Few studies have evaluated health utilities for rare conditions; even fewer have incorporated disutility that may be experienced by caregivers. This study aimed to (1) estimate health utilities for three rare conditions currently recommended for newborn screening at the state or federal level, and (2) estimate the disutility, or spillover, experienced by parents of patients diagnosed with a rare, heritable disorder. Methods A stated-preference survey using a time trade-off approach elicited health utilities for Krabbe disease, phenylketonuria, and Pompe disease at varying stages (mild, moderate, severe) and onset of disease symptoms (infancy, childhood, and adulthood). We recruited respondents from a nationally representative community sample (n = 862). Respondents valued disease specific health states in three consecutive question frames: (1) adult health state (> = 18 years of age), (2) child health state (< 18 years of age), and (3) as a parent of a child with a condition (parent spillover state). Corresponding mean utilities were calculated for plausible disease states in adulthood and childhood. Mean disutility was estimated for parental spillover. Predictors of utilities were evaluated using a negative binomial regression model. Results More severe conditions and infant health states received lower estimated utility and greater estimated disutility among parents. Conditions with the lowest estimated health utilities were severe infantile Pompe disease (0.40, CI: 0.34–0.46) and infantile Krabbe disease (0.37, CI: 0.32–0.43). Disutility was evident for all conditions evaluated (range: 0.07–0.19). Conclusions Rare childhood conditions are associated with substantial estimated losses in quality of life. Evidence of disutility among parents further warrants the inclusion of spillover effects in cost-effectiveness analyses. Continued research is needed to assess and measure the effects of childhood disease from a family perspective.https://deepblue.lib.umich.edu/bitstream/2027.42/147444/1/41687_2019_Article_93.pd

Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus

Lichen sclerosus is a common, acquired chronic inflammatory skin disease of unknown etiology, although circulating autoantibodies to the glycoprotein extracellular matrix protein 1 (ECM1) have been detected in most patients’ sera. We have examined the nature of ECM1 epitopes in lichen sclerosus sera, developed an ELISA system for serologic diagnosis, and assessed clinicopathological correlation between ELISA titer and disease. Epitope-mapping studies revealed that lichen sclerosus sera most frequently recognized the distal second tandem repeat domain and carboxyl-terminus of ECM1. We analyzed serum autoantibody reactivity against this immunodominant epitope in 413 individuals (95 subjects with lichen sclerosus, 161 normal control subjects, and 157 subjects with other autoimmune basement membrane or sclerosing diseases). The ELISA assay was highly sensitive; 76 of 95 lichen sclerosus patients (80.0%) exhibited IgG reactivity. It was also highly specific (93.7%) in discriminating between lichen sclerosus and other disease/control sera. Higher anti-ECM1 titers also correlated with more longstanding and refractory disease and cases complicated by squamous cell carcinoma. Furthermore, passive transfer of affinity-purified patient IgG reproduced some histologic and immunopathologic features of lichen sclerosus skin. This new ELISA is valuable for the accurate detection and quantification of anti-ECM1 autoantibodies. Moreover, the values may have clinical significance in patients with lichen sclerosus

The connection between missing AGB stars and extended horizontal branches

Recent surveys confirm early results about a deficiency or even absence of CN-strong stars on the asymptotic giant branch (AGB) of globular clusters (GCs), although with quite large cluster-to-cluster variations. In general, this is at odds with the distribution of CN band strengths among first ascent red giant branch (RGB) stars. Norris et al. proposed that the lack of CN-strong stars in some clusters is a consequence of a smaller mass of these stars that cannot evolve through the full AGB phase. In this short paper we found that the relative frequency of AGB stars can change by a factor of two between different clusters. We also find a very good correlation between the minimum mass of stars along the horizontal branch (Gratton et al. 2010) and the relative frequency of AGB stars, with a further dependence on metallicity. We conclude that indeed the stars with the smallest mass on the HB cannot evolve through the full AGB phase, being AGB-manque'. These stars likely had large He and N content, and large O-depletion. We then argue that there should not be AGB stars with extreme O depletion, and few of them with a moderate one.Comment: 5 Pages, 2 figures, A&A Accepte

NGC 2419: a large and extreme second generation in a currently undisturbed cluster

We analyse complementary HST and SUBARU data for the globular cluster NGC 2419. We make a detailed analysis of the horizontal branch (HB), that appears composed by two main groups of stars: the luminous blue HB stars ---that extend by evolution into the RR Lyrae and red HB region--- and a fainter, extremely blue population. We examine the possible models for this latter group and conclude that a plausible explanation is that they correspond to a significant (~30 %) extreme second generation with a strong helium enhancement (Y~0.4). We also show that the color dispersion of the red giant branch is consistent with this hypothesis, while the main sequence data are compatible with it, although the large observational error blurs the possible underlying splitting. While it is common to find an even larger (50 -- 80) percentage of second generation in a globular cluster, the presence of a substantial and extreme fraction of these stars in NGC 2419 might be surprising, as the cluster is at present well inside the radius beyond which the galactic tidal field would be dominant. If a similar situation had been present in the first stages of the cluster life, the cluster would have retained its initial mass, and the percentage of second generation stars should have been quite small (up to ~10 %). Such a large fraction of extreme second generation stars implies that the system must have been initially much more massive and in different dynamical conditions than today. We discuss this issue in the light of existing models of the formation of multiple populations in globular clusters.Comment: 14 pages, 14 figures (5 in low resolution format), 3 tables, accepted for publication in MNRA