Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations ...identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild‐type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non‐affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice‐site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.
Tree-ring chronologies are often calibrated against instrumental climate records using correlation and response functions. DENDROCLIM2002 uses bootstrapped confidence intervals to estimate the ...significance of both correlation and response function coefficients. Input and output file selection, as well as analytical options, are chosen from a user-friendly GUI. Final results are saved in ASCII format, and are plotted on screen using color-coded symbols. DENDROCLIM2002 is an extension of existing task-specific software, which is mostly MS-DOS based, and of available user-supplied code for statistical packages, such as SAS. In addition, DENDROCLIM2002 incorporates the ability to test for temporal changes of dendroclimatic relationships by means of evolutionary and moving intervals. This simple approach allows for a complete, dynamical representation of statistical relationships between climate and tree growth. An example using published dendroclimatic data is used to illustrate the analytical and graphical capabilities of the software.
In order to establish suitability of forest ecosystems for long‐term storage of C, it is necessary to characterize the effects of predicted increased atmospheric CO2 levels on the pools and fluxes of ...C within these systems. Since most C held in terrestrial ecosystems is in the soil, we assessed the influence of Free Air Carbon Enrichment (FACE) treatment on the total soil C content (Ctotal) and incorporation of litter derived C (Cnew) into soil organic matter (SOM) in a fast growing poplar plantation. Cnew was estimated by the C3/C4 stable isotope method. Ctotal contents increased under control and FACE respectively by 12 and 3%, i.e., 484 and 107 gC/m2, while 704 and 926 gC/m2 of new carbon was sequestered under control and FACE during the experiment. We conclude that FACE suppressed the increase of Ctotal and simultaneously increased Cnew. We hypothesize that these opposite effects may be caused by a priming effect of the newly incorporated litter, where priming effect is defined as the stimulation of SOM decomposition caused by the addition of labile substrates.
Abstract
Background and Aim
Chronic thromboembolic pulmonary disease (CTED) is a progressive disease caused by a wall-adherent, fibrotic thrombus in the pulmonary circulation persisting despite oral ...anticoagulation and despite vascular remodeling of the small arteries. Despite normal pulmonary hemodynamics at rest, exercise intolerance and dyspnea have been reported. Drivers and risk factors, as well as the clinical impact of CTED, are not yet adequately characterized. We evaluated clinical factors predictive of the development of postthrombotic pulmonary disease in a cohort of patients with a history of acute pulmonary embolism on oral anticoagulant therapy. We also evaluated its impact on functional capacity, pulmonary haemodinamics at rest and after exercise and right ventricle morphology and function.
Methods
We compared 33 consecutive patients with a history of acute pulmonary embolism and normal pulmonary vascular imaging (group 1, n=16) or persistent defects on perfusion scan (positive P scan) despite therapeutic anticoagulation for 4 months (group 2, n=17), for the following parameters: 1. Thrombotic load (extension of pulmonary thromboembolism on CT angiography) and Pulmonary Embolism Severity Index (PESI) score at the time of admission to the Intensive Care Unit (ICU); 2. Presence of thrombophilia (factor V Leiden, prothrombin variant, lupus anticoagulant); 3. Cardiovascular risk factors; 4. Anthropometric and demographic parameters; 5. Anticoagulation treatment in ICU and at discharge. The two groups of patients were also compared for the World Health Organization functional class (WHO-FC), NT-proBNP, cardiopulmonary exercise test (CPET) and echocardiographic parameters at rest and after exercise (ESE), at 4 and after 24 months.
Results
Compared with group 1, patients with persisting perfusion defects (group 2) featured higher thrombotic load (p=0.004) and PESI score (p=0.02) at the time of ICU admission. At 4 months, group 2 developed exercise-induced pulmonary hypertension (Ex-PH) at CPET (p<0.001) and ESE (p<0.001). At the 24 months follow-up group 2 showed higher NT-proBNP (p<0.001) and WHO-FC (p<0.001), systolic (p<0.001) and diastolic (p=0.037) right ventricular (RV) dysfunction and worse echo indices of RV-Arterial Coupling (TAPSE/PAPs (p<0.001)), despite maintaining a low or intermediate echocardiographic probability of PH (Table 1).
Conclusions
Despite the low and intermediate echocardiographic probability of PH, patients with persistent positive P scan had reduced functional capacity, and developed ExPH and RV functional deterioration.
•Multimodal and auditory warnings had faster reaction times to tactile only warnings.•Multimodal warning resulted in fewer missed and false responses in all task conditions.•Multimodal warning rated ...as more noticeable and motivating to respond over unimodal.•Three set paced attention capturing tasks of similar workload were developed and used.
In an automated car, users can fully engage in a distractor task, making it a primary task. Compared to manual driving, drivers can engage in tasks that are difficult to interrupt and of higher demand, the consequences can be a reduced perception of, and an impaired reaction to, warnings. In this study we compared three in-vehicle warnings (auditory, tactile, and auditory-tactile) which were presented during three highly attention capturing tasks (visual, auditory, and tactile) while the user was engaged in a self-driving car scenario, culminating in an emergency brake event where the warning was presented. The novel addition for this paper was that three set paced, attention capturing tasks, as well the three warnings were all designed in a pilot study to have comparable workload and noticeability. This enabled a direct comparison of human performance to be made between each of the attention capturing tasks, which are designed to occupy only one specific modality (auditory, visual or haptic), but remain similar in overall task demand. Results from the study showed reaction times to the tactile warning (for the emergency braking event) were significantly slower compared to the auditory and auditory-tactile (aka multimodal or multisensory) warning. Despite the similar reaction times between the in-vehicle auditory warning and the multimodal warning, the multimodal warning led to a reduced number of missed warnings and fewer false responses. However, the auditory and auditory-tactile warnings were rated significantly more startling than the tactile alone. Our results extend the literature regarding the performance benefits of multimodal warnings by comparing them with in-vehicle auditory warnings in an autonomous driving context. The set-pace attention capturing tasks in this study would be of interest to other researchers to evaluate the interaction in an automated driving context, particularly with hard to interrupt and attention capturing tasks.
The Gus Pearson Natural Area is one of the longest maintained individual-based forest-monitoring sites in the world. It is an 800 X 400 m plot established in 1908 within pristine ponderosa pine ...(Pinus ponderosa Dougl. ex Laws. var. scopulorum) forest near Flagstaff, Arizona. I quantified decadal-scale growth trends of individual trees and of the entire stand from timber inventories repeated at 10-year intervals between 1920 and 1990. A mixed linear model for longitudinal data was used to test significance of temporal trends. Stand density increased throughout the 20th century because of successful regeneration pulses, active fire control, and no tree cutting. Aboveground growth rates of the stand as a whole did not change significantly from 1920 to 1990, but individual growth rates declined. Mixed linear model results indicated that decadal basal area increment of large pines declined more than that of small pines. In 1920-1930 large pines were growing faster than small pines, but by 1980-1990 large pines were growing slower than small pines. Since the number of small pines multiplied and the number of large pines changed slightly, I inferred that competition for resources was more detrimental for large pines than for small pines.
Inequality in Paleorecords Biondi, F; Qeadan, F
Ecology (Durham),
April 2008, Letnik:
89, Številka:
4
Journal Article
Recenzirano
Paleorecords provide information on past environmental variability, and help define ecological reference conditions by means of changes in their characteristics (accumulation rate, geochemical ...composition, density, etc.). A measure of temporal dissimilarity, which has traditionally been used in dendrochronology and is called “mean sensitivity,” only focuses on first-order time-series lags. In this paper mean sensitivity was extended to all possible lags to derive a mean sensitivity function (MSF). The MSF is equivalent to a one-dimensional form of the paired relative madogram, a tool used in geostatistics to quantify spatial dependence. We then showed that the sum of madograms for all possible time-series lags is encapsulated by a single parameter, the Gini coefficient. This parameter has long been used by econometricians, social scientists, and ecologists as a synthetic, quantitative measure of inequality and diversity. Considering the connection between the MSF and the madogram, and the convenience of summarizing data heterogeneity with a single number, the Gini coefficient is therefore particularly appropriate for succinctly evaluating the diversity of paleorecords. An example of this application is provided by focusing on public domain dendrochronological data for the western conterminous United States.
The CHEOPS space mission dedicated to exoplanet follow-up was launched in December 2019, equipped with the capacity to perform photometric measurements at the 20 ppm level. As CHEOPS carries out its ...observations in a broad optical passband, it can provide insights into the reflected light from exoplanets and constrain the short-wavelength thermal emission for the hottest of planets by observing occultations and phase curves. Here, we report the first CHEOPS observation of an occultation, namely, that of the hot Jupiter WASP-189 b, a
M
P
≈ 2
M
J
planet orbiting an A-type star. We detected the occultation of WASP-189 b at high significance in individual measurements and derived an occultation depth of dF = 87.9 ± 4.3 ppm based on four occultations. We compared these measurements to model predictions and we find that they are consistent with an unreflective atmosphere heated to a temperature of 3435 ± 27 K, when assuming inefficient heat redistribution. Furthermore, we present two transits of WASP-189 b observed by CHEOPS. These transits have an asymmetric shape that we attribute to gravity darkening of the host star caused by its high rotation rate. We used these measurements to refine the planetary parameters, finding a ~25% deeper transit compared to the discovery paper and updating the radius of WASP-189 b to 1.619 ± 0.021
R
J
. We further measured the projected orbital obliquity to be
λ
= 86.4
−4.4
+2.9°
, a value that is in good agreement with a previous measurement from spectroscopic observations, and derived a true obliquity of Ψ = 85.4 ± 4.3°. Finally, we provide reference values for the photometric precision attained by the CHEOPS satellite: for the
V
= 6.6 mag star, and using a 1-h binning, we obtain a residual RMS between 10 and 17 ppm on the individual light curves, and 5.7 ppm when combining the four visits.
•Three experiments tested precision teaching in driving.•Precision teaching was effective in reducing drivers’ lateral variability.•We suggest precision teaching be adopted for commercial truckers ...and drivers subjected to repeated training.
Introduction: This study investigates the effect of precision teaching signals on lane maintenance. Methods: In experiment 1, the control group drove a simulator with no signals. In experiment 2, drivers were presented with auditory signals depending on their position within or outside the lane. In experiment 3, visual signals were presented in addition to auditory signals to examine the effect of redundancy on drivers’ lane maintenance. Results: Results showed an improvement in lane maintenance in experiment 2. Cross-experiment analysis indicated this effect not to be the result of learning. Data from experiment 3 also showed that presenting redundant signals did not further reduce lane variability or help drivers maintain a more central position within the lane. Conclusions: Taken together, data suggest precision teaching be effective as an educational tool to improve lane maintenance. Practical Applications: Our study shows the potential for precision teaching to serve as a valuable tool in driver training.
The aim of the present study was to determine the most desirable ovarian tissue section thickness to isolate preantral follicles (Experiment I), determine follicular density (follicles/mm
2 of ...cortex) of ovaries of fetal buffalo of different ages (Experiment II), and cultivate preantral follicles of buffalo fetuses (Experiment III). In Experiment I, ovary sections with different thicknesses (25, 50, 75, and 100
μm) had 415.0
±
285.2, 457.5
±
341.9, 585.0
±
309.3, and 685.0
±
278.8 isolated preantral follicles, respectively. In Experiment II, the follicular density of 46 buffalo fetuses with ages between 3 and 8 months was estimated to be between 0 and 7220, with means of 0.0, 2070.7
±
2190.3, 2570.8
±
1796.6, 2298.1
±
2286.5, 1277.5
±
1074.9, and 643.6
±
543.9 throughout the age range studied. The follicular density of 5-month-old fetuses was greatest, coinciding with the largest number of follicles isolated at this age. In Experiment III, preantral follicles isolated from the ovaries of buffalo fetuses aged from 5 to 9 months old were cultivated individually for 7 days in four different media: basic medium (Minimal Essential Medium (MEM), 10% SFB, kanamycin, pyruvate, glutamine, hypoxanthine) with additional ITS and FSH 0.5
mg/ml (treatment 1); basic medium with FSH and EGF 100
ng/ml (treatment 2); basic medium with additional ITS, FSH, and EGF (treatment 3); basic medium supplemented with ITS and EGF (treatment 4). Integrity and morphological features, viability, and increase in diameter of follicles cultured in vitro were evaluated individually with an inverted microscope and an ocular micrometer. The results showed that follicle structure and form were maintained during culture. Growth and survival rates of treatments 1, 2, and 3 over 7 day culture were 23.25
±
17.06, 33.75
±
26.19, and 43.75
±
31.73
μm, and 31.3
±
22.7, 22.06
±
8.13, and 28.92
±
21.32%, respectively. However, neither growth nor survival was observed in treatment 4. In conclusion, this study showed that preantral follicles of buffalo fetuses can be cultured in vitro, and that FSH is essential for follicle survival.
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