578 research outputs found
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
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