246 research outputs found
An engineering analysis of a closed cycle plant growth module
The SOLGEM model is a numerical engineering model which solves the flow and energy balance equations for the air flowing through a growing environment, assuming quasi-steady state conditions within the system. SOLGEM provides a dynamic simulation of the controlled environment system in that the temperature and flow conditions of the growing environment are estimated on an hourly basis in response to the weather data and the plant growth parameters. The flow energy balance considers the incident solar flux; incoming air temperature, humidity, and flow rate; heat exchange with the roof and floor; and heat and moisture exchange with the plants. A plant transpiration subroutine was developed based plant growth research facility, intended for the study of bioregenerative life support theories. The results of a performance analysis of the plant growth module are given. The estimated energy requirements of the module components and the total energy are given
NiMoO4@Co3O4 Core–Shell Nanorods: In Situ Catalyst Reconstruction toward High Efficiency Oxygen Evolution Reaction
The sluggish kinetics of the oxygen evolution reaction (OER) is the bottleneck for the practical exploitation of water splitting. Here, the potential of a core–shell structure of hydrous NiMoO4 microrods conformally covered by Co3O4 nanoparticles via atomic layer depositions is demonstrated. In situ Raman and synchrotron-based photoemission spectroscopy analysis confirms the leaching out of Mo facilitates the catalyst reconstruction, and it is one of the centers of active sites responsible for higher catalytic activity. Post OER characterization indicates that the leaching of Mo from the crystal structure, induces the surface of the catalyst to become porous and rougher, hence facilitating the penetration of the electrolyte. The presence of Co3O4 improves the onset potential of the hydrated catalyst due to its higher conductivity, confirmed by the shift in the Fermi level of the heterostructure. In particular NiMoO4@Co3O4 shows a record low overpotential of 120 mV at a current density of 10 mA cm−2, sustaining a remarkable performance operating at a constant current density of 10, 50, and 100 mA cm−2 with negligible decay. Presented outcomes can significantly contribute to the practical use of the water-splitting process, by offering a clear and in-depth understanding of the preparation of a robust and efficient catalyst for water-splitting
Variant R94C in TNNT2‐encoded troponin T predisposes to pediatric restrictive dardiomyopathy and sudden death through impaired thin filament relaxation resulting in myocardial diastolic dysfunction
Background Pediatric-onset restrictive cardiomyopathy (RCM) is associated with high mortality, but underlying mechanisms of disease are under investigated. RCM-associated diastolic dysfunction secondary to variants i
The Impact of Registered Intermediary Presence on Adults’ Perceptions of Child Witnesses: Evidence from a Mock Cross Examination
What factors affect patients' recall of general practitioners' advice?
<p>Abstract</p> <p>Background</p> <p>In order for patients to adhere to advice, provided by family doctors, they must be able to recall it afterwards. However, several studies have shown that most patients do not fully understand or memorize it. The aim of this study was to determine the influence of demographic characteristics, education, amount of given advice and the time between consultations on recalled advice.</p> <p>Methods</p> <p>A prospective survey, lasting 30 months, was conducted in an urban family practice in Slovenia. Logistic regression analysis was used to identify the risk factors for poorer recall.</p> <p>Results</p> <p>250 patients (87.7% response rate) received at least one and up to four pieces of advice (2.4 ± 0.8). A follow-up consultation took place at 47.4 ± 35.2 days. The determinants of better recall were high school (OR 0.4, 95% CI 0.15-0.99, p = 0.049) and college education (OR 0.3, 95% CI 0.10-1.00, p = 0.050), while worse recall was determined by number of given instructions three or four (OR 26.1, 95% CI 3.15-215.24, p = 0.002; OR 56.8, 95% CI 5.91-546.12, p < 0.001, respectively) and re-test interval: 15-30 days (OR 3.3, 95% CI 1.06-10.13, p = 0.040), 31-60 days (OR 3.2, 95% CI 1.28-8.07, p = 0.013) and more than 60 days (OR 2.5, 95% CI 1.05-6.02, p = 0.038).</p> <p>Conclusions</p> <p>Education was an important determinant factor and warrants further study. Patients should be given no more than one or two instructions in a consultation. When more is needed, the follow-up should be within the next 14 days, and would be of a greater benefit to higher educated patients.</p
PRDM16 Deletion Is Associated With Sex-Dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor
METHODS: This retrospective cohort included subjects with 1p36 deletion syndrome from 4 hospitals. Prevalence of cardiomyopathy and freedom from death, cardiac transplantation, or ventricular assist device were analyzed. A systematic review cohort was derived for further analysis. A cardiac-specific
RESULTS: The retrospective cohort included 71 patients. Among individuals with
CONCLUSIONS
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Background:
As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
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Methods:
We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. We present this information for the first time in a structured dataset, CardiacG2P, and assess application in genomic variant filtering.
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Results:
For 36/65 gene-disease pairs, loss of function is not an established disease mechanism, and protein truncating variants are not known to be pathogenic. Using the CardiacG2P dataset as an initial variant filter allows for efficient variant prioritisation whilst maintaining a high sensitivity for retaining pathogenic variants compared with two other variant filtering approaches.
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Conclusions:
Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is a pre-requisite for scalable genomic testing
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias
IMPORTANCE: Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. OBJECTIVE: To determine the impact of ATP1A3 variants on cardiac electrophysiology and whether lethal ventricular arrhythmias are associated with SUD in patients with AHC. DESIGN, SETTING, AND PARTICIPANTS: In this international, multicenter case-control study from 12 centers across 10 countries, patients with AHC were grouped by ATP1A3 variant status (positive vs negative) and into subgroups with the most common AHC variants (D801N, E815K, G947R, and other). A healthy control cohort was established for comparison. Blinded, manual measurements of QT intervals and corrected QT interval (QTc) were performed independently by 2 pediatric cardiac electrophysiologists. Induced pluripotent stem cell cardiomyocytes were derived from patients with AHC who were positive for the D801N variant of ATP1A3 (iPSC-CMD801N cells). Data analysis was performed from April to June 2022. EXPOSURE: Presence of ATP1A3 variant. MAIN OUTCOMES AND MEASURES: The primary outcome was QTc. Outcomes, including survival, were abstracted and variants were mapped on cryogenic electron microscopy structure maps. iPSC-CMD801N cells were used to validate ventricular repolarization and arrhythmic susceptibility in vitro. RESULTS: Among the 222 individuals included (148 with AHC and 74 control), the mean (SD) age at diagnostic electrocardiography was 11.0 (9.4) years and 119 (54%) were female. The cohort with AHC consisted of 148 largely unrelated probands (mean [SD] age at diagnostic electrocardiography, 11.5 [10.5] years). Of these, 123 individuals were ATP1A3 genotype positive, including 35 (28%) with the D801N variant, 21 (17%) with the E815K variant, 8 (7%) with the G947R variant, and 8 (7%) with a loss-of-function variant. Probands with the D801N variant had shorter mean (SD) QTcs (381.8 [36.6] milliseconds; 24 [69%] with QTc <370 milliseconds) compared with those who had the E815K variant (393.6 [43.1] milliseconds; P = .001; 4 [19%] with QTC <370 milliseconds), the G947R variant (388.4 [26.5] milliseconds; P = .02; 1 [13%] with QTc <370 milliseconds), a loss-of-function variant (403.0 [33.5] milliseconds; P < .001; 1 [13%] with QTc <370 milliseconds), all other variants (387.8 [37.1] milliseconds; P < .001; 44 [86%] with QTc <370 milliseconds), and healthy controls (415.4 [21.0] milliseconds; P < .001; 0 with QTc <370 milliseconds). Three D801N-positive individuals had a major cardiac event, compared with 0 major cardiac events in all other individuals (P = .02). The D801N variant and 4 rare variants (D805N, P323S, S772R, and C333F) found in individuals with the shortest QTcs localized to the potassium-binding domain of ATP1A3. IPSC-CMD801N lines demonstrated shortened action potential duration, higher mean diastolic potential, and delayed afterdepolarizations compared with controls. CONCLUSIONS AND RELEVANCE: Nearly 70% of individuals with D801N variants of ATP1A3 had short QTcs (<370 milliseconds), with an association between ventricular arrhythmias and cardiac arrest. This may underlie the SUD etiology in AHC
Environmental, Dietary, Maternal, and Fetal Predictors of Bulky DNA Adducts in Cord Blood: A European Mother-Child Study (NewGeneris)
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