This policy statement represents a consensus on the critical first steps that the medical profession needs to take to realize the vision of a family-centered, continuous, comprehensive, coordinated, ...compassionate, and culturally competent health care system that is as developmentally appropriate as it is technically sophisticated. The goal of transition in health care for young adults with special health care needs is to maximize lifelong functioning and potential through the provision of high-quality, developmentally appropriate health care services that continue uninterrupted as the individual moves from adolescence to adulthood. This consensus document has now been approved as policy by the boards of the American Academy of Pediatrics, the American Academy of Family Physicians, and the American College of Physicians-American Society of Internal Medicine.
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene. To date, the ...sensitivity of TBX5 genetic testing for HOS has been unclear. We now report mutational analyses of a nongenetically selected population of 54 unrelated individuals who were consecutively referred to our center with a clinical diagnosis of HOS. TBX5 mutational analyses were performed in all individuals, and clinical histories and findings were reviewed for each patient without reference to the genotypes. Twenty-six percent of the complete cohort was shown to have mutations of the TBX5 gene. However, among those subjects for whom clinical review demonstrated that their presentations met strict diagnostic criteria for HOS, TBX5 mutations were identified in 74%. No mutations were identified in those subjects who did not meet these criteria. Thus, these studies validate our clinical diagnostic criteria for HOS including an absolute requirement for preaxial radial ray upper limb malformation. Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis.
•Knowledge of causal relationships between health and fertility traits is necessary for predicting the result of interventions such as management decisions.•Results from the structural equation ...models analysis uncovered interesting potential causal relationships between health and fertility traits.•Such knowledge can be used to aid better decisions to manage the events that occur during the postpartum period in dairy cattle.
The association between health and pregnancy per artificial insemination, maintenance of pregnancy, and interval to pregnancy in dairy cattle is well documented. However, the understanding of the causal relationships among health and fertility traits is limited. Although information on heritabilities and genetic correlations between traits is key for the development of multiple-trait selection strategies, only knowledge about functional and causal relationships among them allow the prediction of the consequences of external interventions such as management decisions. Thus, this research was carried out to investigate potential causal relationships among multiple health events (retained fetal membranes RFM, metritis MET, clinical endometritis CE, lameness LS) and fertility indicators including resumption of ovarian cyclicity (CY) by 50 days in milk and pregnancy on day 60 (P60) after the first artificial insemination in Holstein cows. Mixed-effects structural equation models (SEM) were fitted conditionally on a causal structure among traits, represented by a directed acyclic graph, inferred from the data using the inductive causation (IC) algorithm. The posterior mean and standard deviation of heritability for RFM, MET, CE, LS, CY and P60 were 0.20 ± 0.07, 0.09 ± 0.02, 0.10 ± 0.04, 0.35 ± 0.04, 0.15 ± 0.03, and 0.10 ± 0.03, respectively. The moderate estimates of heritability found for CY and P60 suggest that selective breeding could be effective for the genetic improvement of these traits. The estimates of genetic correlation among traits ranged from -0.82 ± 0.07 (MET and CY) to 0.70 ± 0.13 (RFM and MET). Biological considerations and results from the inductive causation algorithm analysis retrieved six potential causal connections between traits: RFM→MET; RFM→CE; LS→CE; CE→P60; CY→P60; and CY→CE. In addition to the data-driven network recovered, some additional connections or variations on their directions were also considered on the SEM analyses based on biological and chronological knowledge. Overall, the SEM results were very similar to those obtained from the traditional multi-trait mixed model analysis. The advantage of the SEM analysis is that it sheds some light onto the potential causal relationships between traits, which can aid better decisions to manage events occurring during the postpartum of dairy cattle.
This article presents a set of measured benchmarks for the noise and gain performance of six different millimeter-wave (mm-wave) gallium nitride (GaN) high electron mobility transistor (HEMT) ...technologies fabricated at four different foundries in the United States. Measurements of the GaN transistors were collected on two independent noise parameter (NP) systems from 8-50 GHz and 75-110 GHz. The resulting raw NPs were stitched together to yield ultra broadband 8-110 GHz smoothed NPs. Several comparisons and summaries of the minimum noise figure and associated gain are reported for the six different GaN technologies. This work seeks to provide an initial database for noise and gain of GaN HEMTs at mm-wave frequencies to quantify progress on technology in the future.
Soil microbiomes play crucial roles in pathogen suppression, nutrient mobilization, and maintenance of plant health. Their complexity and variability across spatial and temporal scales provide ...challenges for identifying common targets—microbial taxa or assemblages—for management in agricultural systems. To understand how microbiomes in potato production soils vary across growing regions and identify commonly distributed taxa among them, we compiled a continental-scale bacterial and eukaryotic amplicon dataset of over 1,300 communities with corresponding edaphic measurements from nine U.S. field sites. Field site explained most of the variance across bacterial and eukaryotic (predominantly fungal) communities, while pH and organic matter as well as nitrate, phosphate, and potassium concentrations also varied with community structure. Bacterial and eukaryotic potato soil microbiomes showed consistent phylum-level composition across locations at the continental scale, with regional-scale differences evident among genera and amplicon sequence variants (ASVs). Core community analysis identified 606 bacterial and 74 eukaryotic ASVs, which were present, but unequally distributed, across all nine field sites. Many of these core ASVs belonged to common soil genera, such as Bacillus and Mortierella, which may reveal the functional potential involved in maintaining soil health across regionally variable soil systems.
We have investigated the susceptibility of degraded human hair shaft samples to contamination by exogenous sources of DNA, including blood, saliva, skin cells, and purified DNA. The results indicate ...that on the whole hair shafts are either largely resistant to penetration by contaminant DNA, or extremely easy to successfully decontaminate. This pertains to samples that are both morphologically and biochemically degraded. We suggest that this resistance to the incorporation of contaminant DNA relates to the hydrophobic and impermeable nature of the keratin structures forming the hair shaft. Therefore, hair samples represent an important and underestimated source of DNA in both forensic and ancient DNA studies.
The prognostic significance of lymphovascular invasion (LVI) in melanoma remains controversial. Clinicopathologic data from a prospective trial of patients with melanoma were analyzed with respect to ...LVI. Disease-free survival and overall survival (OS) were evaluated by Kaplan-Meier (KM) analysis. Univariate and multivariate analyses were performed to evaluate factors predictive of tumor-positive sentinel nodes (SLN) and survival. A total of 2183 patients were included in this analysis; 171 (7.8%) had LVI. Median follow-up was 68 months. Factors associated with LVI included tumor thickness, ulceration, and histologic subtype (P < 0.05). LVI was associated with a greater risk of SLN metastasis (P < 0.05). By KM analysis, LVI was associated with worse OS (P = 0.0009). On multivariate analysis, age, gender, thickness, ulceration, anatomic location, and SLN status were predictors of OS; however, LVI was not an independent predictor of OS. Among patients with regression, the 5-year OS rate was 49.4 per cent for patients with LVI versus 81.1 per cent for those with no LVI (P < 0.0001). LVI is associated with a greater risk of SLN metastasis. Although LVI is not an independent predictor of OS in general, it is a powerful predictor of worse OS among patients who have evidence of regression of the primary tumor.
We present the discovery of KELT-24 b, a massive hot Jupiter orbiting a bright (V=8.3 mag, K=7.2 mag) young F-star with a period of 5.6 days. The host star, KELT-24 (HD 93148), has a ...Teff=-+65094950K, a mass of M*=+1.4600.0590.055Me, a radius of R*=1.506±0.022Re, and an age of +0.780.420.61Gyr. Its planetary companion (KELT-24 b) has a radius of RP=1.272±0.021RJ and a mass of MP=-+5.180.220.21MJ, and from Doppler tomographic observations, we find that the planet’s orbit is well aligned to its host star’s projected spin axis (l=-+2.63.65.1). The young age estimated for KELT-24 suggests that it only recently started to evolve from the zero-age main sequence. KELT-24 is the brightest star known to host a transiting giant planet with a period between 5 and 10 days. Although the circularization timescale is much longer than the age of the system, we do not detect a large eccentricity or significant misalignment that is expected from dynamical migration. The brightness of its host star and its moderate surface gravity make KELT-24b an intriguing target for detailed atmospheric characterization through spectroscopic emission measurements since it would bridge the current literature results that have primarily focused on lower mass hot Jupiters and a few brown dwarfs.
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