1,296 research outputs found
VACTERL/VATER Association
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment
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Decadal predictability of regional scale wind speed and wind energy potentials over Central Europe
Decadal predictions on timescales from one year to one decade are gaining importance since this time frame falls within the planning horizon of politics, economy and society. The present study examines the decadal predictability of regional wind speed and wind energy potentials in three generations of the MiKlip (âMittelfristige Klimaprognosenâ) decadal prediction system. The system is based on the global Max-Planck-Institute Earth System Model (MPI-ESM), and the three generations differ primarily in the ocean initialisation. Ensembles of uninitialised historical and yearly initialised hindcast experiments are used to assess the forecast skill for 10 m wind speeds and wind energy output (Eout) over Central Europe with lead times from one year to one decade. With this aim, a statistical-dynamical downscaling (SDD) approach is used for the regionalisation. Its added value is evaluated by comparison of skill scores for MPI-ESM large-scale wind speeds and SDD-simulated regional wind speeds. All three MPI-ESM ensemble generations show some forecast skill for annual mean wind speed and Eout over Central Europe on yearly and multi-yearly time scales. This forecast skill is mostly limited to the first years after initialisation. Differences between the three ensemble generations are generally small. The regionalisation preserves and sometimes increases the forecast skills of the global runs but results depend on lead time and ensemble generation. Moreover, regionalisation often improves the ensemble spread. Seasonal Eout skills are generally lower than for annual means. Skill scores are lowest during summer and persist longest in autumn. A large-scale westerly weather type with strong pressure gradients over Central Europe is identified as potential source of the skill for wind energy potentials, showing a similar forecast skill and a high correlation with Eout anomalies. These results are promising towards the establishment of a decadal prediction system for wind energy applications over Central Europe
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Mother-child histocompatibility and risk of rheumatoid arthritis and systemic lupus erythematosus among mothers.
The study objective was to test the hypothesis that having histocompatible children increases the risk of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), possibly by contributing to the persistence of fetal cells acquired during pregnancy. We conducted a case control study using data from the UC San Francisco Mother Child Immunogenetic Study and studies at the Inova Translational Medicine Institute. We imputed human leukocyte antigen (HLA) alleles and minor histocompatibility antigens (mHags). We created a variable of exposure to histocompatible children. We estimated an average sequence similarity matching (SSM) score for each mother based on discordant mother-child alleles as a measure of histocompatibility. We used logistic regression models to estimate odds ratios (ORs) and 95% confidence intervals. A total of 138 RA, 117 SLE, and 913 control mothers were analyzed. Increased risk of RA was associated with having any child compatible at HLA-B (OR 1.9; 1.2-3.1), DPB1 (OR 1.8; 1.2-2.6) or DQB1 (OR 1.8; 1.2-2.7). Compatibility at mHag ZAPHIR was associated with reduced risk of SLE among mothers carrying the HLA-restriction allele B*07:02 (nâ=â262; OR 0.4; 0.2-0.8). Our findings support the hypothesis that mother-child histocompatibility is associated with risk of RA and SLE
The two electron artificial molecule
Exact results for the classical and quantum system of two vertically coupled
two-dimensional single electron quantum dots are obtained as a function of the
interatomic distance (d) and with perpendicular magnetic field. The classical
system exhibits a second order structural transition as a function of d which
is smeared out and shifted to lower d values in the quantum case. The
spin-singlet - spin-triplet oscillations are shifted to larger magnetic fields
with increasing d and are quenched for a sufficiently large interatomic
distance.Comment: 4 pages, 4 ps figure
Observed multivariable signals of late 20th and early 21st century volcanic activity
The relatively muted warming of the surface and lower troposphere since 1998 has attracted considerable attention. One contributory factor to this âwarming hiatusâ is an increase in volcanically induced cooling over the early 21st century. Here we identify the signals of late 20th and early 21st century volcanic activity in multiple observed climate variables. Volcanic signals are statistically discernible in spatial averages of tropical and near-global SST, tropospheric temperature, net clear-sky short-wave radiation, and atmospheric water vapor. Signals of late 20th and early 21st century volcanic eruptions are also detectable in near-global averages of rainfall. In tropical average rainfall, however, only a Pinatubo-caused drying signal is identifiable. Successful volcanic signal detection is critically dependent on removal of variability induced by the El NinoâSouthern Oscillation.National Science Foundation (U.S.) (Grant AGS-1342810
Selective vulnerability of the intermediate retinal capillary plexus precedes retinal ganglion cell loss in ocular hypertension
Introduction: Glaucoma, a disease of retinal ganglion cell (RGC) injury and potentially devastating vision loss, is associated with both ocular hypertension (OHT) and reduced ocular blood flow. However, the relationship between OHT and retinal capillary architecture is not well understood. In this project, we studied microvasculature damage in mice exposed to mild levels of induced OHT.Methods: Mild OHT was induced with the microbead model for 2 weeks. At this time point, some retinas were immunostained with CD31 (endothelium), Collagen IV (basement membrane), and RBPMS (RGCs) for z-stack confocal microscopy. We processed these confocal images to distinguish the three retinal capillary plexi (superficial, intermediate, and deep). We manually counted RGC density, analyzed vascular complexity, and identified topographical and spatial vascular features of the retinal capillaries using a combination of novel manual and automated workflows. Other retinas were dissociated and immunopanned to isolate RGCs and amacrine cells (ACs) for hypoxia gene array analysis.Results: RGC counts were normal but there was decreased overall retinal capillary complexity. This reduced complexity could be explained by abnormalities in the intermediate retinal capillary plexus (IRCP) that spared the other plexi. Capillary junction density, vessel length, and vascular area were all significantly reduced, and the number of acellular capillaries was dramatically increased. ACs, which share a neurovascular unit (NVU) with the IRCP, displayed a marked increase in the relative expression of many hypoxia-related genes compared to RGCs from the same preparations.Discussion: We have discovered a rapidly occurring, IRCP-specific, OHT-induced vascular phenotype that precedes RGC loss. AC/IRCP NVU dysfunction may be a mechanistic link for early vascular remodeling in glaucoma
Holoprosencephalyâpolydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature
Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephalyâpolydactyly syndrome (HPS), also termed pseudotrisomy 13. However, the criteria for HPS have been controversial since the advent of the diagnostic term, and a clear understanding of the condition lacks definitive delineation. We review the historical and current perspectives on the condition and analyze findings in 40 patients with apparent HPS, including cases from the literature and two previously unreported patients. Overall, our analysis suggests previously unrecognized trends in patients diagnosed with HPS. Specifically, there appears to be a higher prevalence of visceral anomalies, most significantly cardiac and genitourinary, but also with increased gastrointestinal, pulmonary, adrenal, skeletal, and renal abnormalities, in patients with HPS. Although these visceral anomalies may not be essential for the identification of HPS, clinicians should be aware of the presence of such characteristics in these patients to optimize management and help establish etiologies
Publisher Correction:Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence (Nature Genetics, (2018), 50, 4, (487-492), 10.1038/s41588-018-0071-6)
In the HTML version of the article originally published, the figures for Supplementary Figures 1â15 were incorrect and did not match the correct figures in the PDF of Supplementary Text and Figures. The error has been corrected in the HTML version of the article
The RMS Survey: Distribution and properties of a sample of massive young stars
The Red MSX Source (RMS) survey has identified a large sample of massive
young stellar objects (MYSOs) and ultra compact (UC) HII regions from a sample
of ~2000 MSX and 2MASS colour selected sources. Using a recent catalogue of
molecular clouds derived from the Boston University-Five College Radio
Astronomy Observatory Galactic Ring Survey (GRS), and by applying a Galactic
scaleheight cut off of 120 pc, we solve the distance ambiguity for RMS sources
located within 18\degr 54\degr. These two steps yield kinematic
distances to 291 sources out of a possible 326 located within the GRS longitude
range. Combining distances and integrated fluxes derived from spectral energy
distributions, we estimate luminosities to these sources and find that > 90%
are indicative of the presence of a massive star. We find the completeness
limit of our sample is ~10^4 Lsun, which corresponds to a zero age main
sequence (ZAMS) star with a mass of ~12 Msun. Selecting only these sources, we
construct a complete sample of 196 sources. Comparing the properties of the
sample of young massive stars with the general population, we find the
RMS-clouds are generally larger, more massive, and more turbulent. We examine
the distribution of this sub-sample with respect to the location of the spiral
arms and the Galactic bar and find them to be spatially correlated. We identify
three significant peaks in the source surface density at Galactocentric radii
of approximately 4, 6 and 8 kpc, which correspond to the proposed positions of
the Scutum, Sagittarius and Perseus spiral arms, respectively. Fitting a scale
height to the data we obtain an average value of ~29+-0.5 pc, which agrees well
with other reported values in the literature, however, we note a dependence of
the scale height on galactocentric radius with it increases from 30 pc to 45 pc
between 2.5 and 8.5 kpc.Comment: Accepted for publication by MNRAS. Paper consists of 15 pages
including 12 figures and four tables. Full versions of Tables 2 and 3 will
only be available online. The resolution of Figure 9 has been reduced - a
full resolution version of the paper can be download from here:
http://www.ast.leeds.ac.uk/cgi-bin/RMS/RMS_PUBLICATIONS.cg
Patterns of use of perioperative angiotensin-converting enzyme inhibitors in coronary artery bypass graft surgery with cardiopulmonary bypass: Effects on in-hospital morbidity and mortality
Background-Despite proven benefit in ambulatory patients with ischemic heart disease, the pattern of use of angiotensin-converting enzyme inhibitors (ACEIs) in coronary artery bypass graft surgery has been erratic and controversial. Methods and Results-This is a prospective observational study of 4224 patients undergoing coronary artery bypass graft surgery. The cohort included 1838 patients receiving ACEI therapy before surgery and 2386 (56.5%) without ACEI exposure. Postoperatively, the pattern of ACEI use yielded 4 groups: continuation, 915 (21.7%); withdrawal, 923 (21.8%); addition, 343 (8.1%); and no ACEI, 2043 (48.4%). Continuous treatment with ACEI versus no ACEI was associated with substantive reductions of risk of nonfatal events (adjusted odds ratio for the composite outcome, 0.69; 95% confidence interval, 0.52-0.91; P=0.009) and a cardiovascular event (odds ratio, 0.64; 95% confidence interval, 0.46-0.88; P=0.006). Addition of ACEI de novo postoperatively compared with no ACEI therapy was also associated with a significant reduction of risk of composite outcome (odds ratio, 0.56; 95% confidence interval, 0.38-0.84; P=0.004) and a cardiovascular event (odds ratio, 0.63; 95% confidence interval, 0.40-0.97; P=0.04). On the other hand, continuous treatment of ACEI versus withdrawal of ACEI was associated with decreased risk of the composite outcome (odds ratio, 0.50; 95% confidence interval, 0.38-0.66; P<0.001), as well as a decrease in cardiac and renal events (P<0.001 and P=0.005, respectively). No differences in in-hospital mortality and cerebral events were noted. Conclusions-Our study suggests that withdrawal of ACEI treatment after coronary artery bypass graft surgery is associated with nonfatal in-hospital ischemic events. Furthermore, continuation of ACEI or de novo ACEI therapy early after cardiac surgery is associated with improved in-hospital outcomes
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