The theory of social attachment states that individuals seek the proximity of attachment figures (e.g. family members, friends, colleagues, familiar places or objects) when faced with threat. During ...disasters, this means that family members may seek each other before evacuating, gather personal property before heading to familiar exits and places, or follow groups/crowds, etc. This hard-wired human tendency should be considered in the assessment of risk and the formulation of disaster management plans. Doing so may result in more realistic evacuation procedures and may minimise the number of casualties and injuries. In this context, a dynamic spatio-temporal analysis of seismic risk is presented here using SOLACE, a multi-agent model of pedestrian behaviour based on the theory of social attachment applied using the Belief–Desire–Intention approach. The model focuses on the influence of human, social, physical and temporal factors on successful evacuation. Human factors considered include perception and mobility defined by age. Social factors are defined by attachment bonds, social groups, population distribution, and cultural norms. Physical factors refer to the location of the epicentre of the earthquake, the spatial distribution/layout and attributes of environmental objects such as buildings, roads, barriers (cars), placement of safe areas, evacuation routes, and the resulting debris/damage from the earthquake. Experiments tested the influence of time of the day, the presence of disabled persons and earthquake intensity. Initial results show that factors that influence arrivals in safe areas include (a) human factors (age, disability, speed), (b) pre-evacuation behaviours, (c) perception distance (social attachment, time of day), (d) social interaction during evacuation, and (e) physical and spatial aspects, such as limitations imposed by debris (damage), and the distance to safe areas. To validate the results, scenarios have to be designed with stakeholders, who would also take part in the definition of a serious game. The recommendation of this research is that both social and physical aspects must be considered when defining vulnerability in risk analysis.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and ...dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage‐sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi‐faceted complications due to haploinsufficiency of BPTF.
Known tIgE and allergic disease loci are relevant in non-European ancestry populations. HLA-A*02:01 and HLA-DQB1*03:02 are associated with decreased levels of tIgE.
Background:
There is no acceptable method of testing oxygen transfer performance in membrane oxygenators quickly and easily during cardiopulmonary bypass. Pre-clinical testing of oxygenators is ...performed under controlled situations in the laboratory, correlating oxygen transfer to blood flow using 100% oxygen. This laboratory method cannot be used clinically as oxygen transfer values vary significantly at each blood flow and the FiO2 is not kept at 1. Therefore, a formula was developed which corrects the existing FiO2 to attain a PaO2 of 150 mmHg: the corrected FiO2 at 150 mmHg. In graph form, this corrected FiO2 (x-axis) is correlated to the patient’s oxygen consumption levels (y-axis), which determines the membrane oxygenator oxygen transfer performance.
Methods:
Blood gas and hemodynamic parameters taken during cardiopulmonary bypass using the Medtronic Fusion were used to calculate the oxygen consumption (inlet conditions to the oxygenator) and the corrected FiO2 for a PaO2 of 150 mmHg. Validation of the formula “FiO2-PaO2/(Pb−pH2O)+0.21” was carried out by plotting the calculated values on a graph using PaO2 values between 145 to 155 mmHg and then, using the corrected FiO2 for PaO2s outside of this range.
Results:
All trend-lines correlated significantly to confirm that the Medtronic Fusion had an extrapolated oxygen transfer of 419 milliliters O2/min at an FiO2 of 1 to achieve a PaO2 of 150 mmHg.
Conclusions:
Use of the corrected FiO2 correlated to the oxygen transfer conditions of the membrane oxygenator can easily be used on a routine basis, providing valuable information clinically. When used by the manufacturer under laboratory conditions, further clinically relevant data is provided in terms of FiO2 and resultant PaO2s instead of the present limitations using blood flow. In this way, a clinically justifiable method has been developed to finally establish a standard in testing membrane oxygenator performance.
Abstract only
A better understanding of blood pooling to the lower limbs and muscle pumping (increasing venous return) is essential to prevent orthostatic intolerance. The goal of this study is to ...assess the dynamics of these physiological responses under orthostatic stress. Repeated 70 degrees Head Up Tilt (HUT) of 3 minutes were performed on a group of 15 healthy volunteers. After 1st and 2nd minute of HUT, the subjects performed a 3 s calf Muscle Contraction (MC) at 30% of maximal electromyographic activity. Calf muscles EMG, ECG and finger blood pressure were recorded continuously. Blood volume flow (BVF) of the femoral artery was assessed with ultrasound from 1 min before to 1 min after HUT. A peak BVF of 620 mL/min was measured after HUT, whereas peak BVF after MC reached 950 mL/min. Plateau BVF in the femoral artery during HUT increased slightly after the MC possibly due to a metabolic response of the leg muscle. Finally, mean arterial pressure immediately after tilting and after MC decreased. We therefore conclude that the muscle pump through its effect on venous pressure of the lower limbs is a fundamental aspect in blood pressure regulation during orthostatic stress.
At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. ...As a typical tumor suppressor gene, the inactivation of the second wild-type (WT) BRCA1 allele is expected to trigger cancer initiation. Loss of heterozygosity (LOH) of the WT allele is the most frequent mechanism for the BRCA1 biallelic inactivation. To evaluate if LOH can be an effective predictor of BRCA1 variant pathogenicity, we carried out LOH analysis on DNA extracted from 90 breast and seven ovary tumors diagnosed in 27 benign and 55 pathogenic variant carriers. Further analyses were conducted in tumors with PVs yet without loss of the WT allele: BRCA1 promoter hypermethylation, next-generation sequencing (NGS) of BRCA1/2, and BRCAness score. Ninety-seven tumor samples were analyzed from 26 different BRCA1 variants. A relatively stable pattern of LOH (65.4%) of WT allele for PV tumors was observed, while the allelic balance (63%) or loss of variant allele (15%) was generally seen for carriers of BV. LOH data is a useful complementary argument for BRCA1 variant classification.
The gold-standard test used to diagnose childhood obstructive sleep apnea is polysomnography. However, this test requires an overnight stay at a sleep laboratory and the attachment of multiple ...sensors to the patient. The long-term impact of this testing on the child and family are not known. We hypothesized that polysomnography does not precipitate acute or chronic psychological effects in children.
A consecutive cohort of children who had undergone sleep studies 2 to 4 months prior to the interview were administered a standardized questionnaire via telephone.
Of the 118 families that were eligible to participate, 67% could be contacted and agreed to participate; 87% of respondents reported the experience to have been satisfactory (mean Likert score of 8.6 ± 2.0 SD on a scale of 1-10). Similar levels of satisfaction were reported by parents of children with developmental delay or those who were younger than 3 years. The night's sleep was considered typical in 68% of cases. Sleep was less likely to be typical in children younger than 3 years (47%, p = 0.043). Eight percent of children experienced pain during the study. By caregiver report, of those children who remembered the sleep study, memories were positive in 84%. No child had evidence of serious long-term psychological issues.
The vast majority of children and families found the polysomnography experience to be satisfactory, with no psychological sequelae. However, many children, especially those younger than 3 years, demonstrated sleep patterns different from their usual sleep. The clinical relevance of this finding merits further study. Further research evaluating the generalizability of this study is also needed.
Antigen-based (as opposed to whole organism) vaccines are actively being pursued for numerous indications. Even though different formulations may produce similar levels of total antigen-specific ...antibody, the composition of the antibody response can be quite distinct resulting in different levels of therapeutic activity.
Using plasmid-based immunization against the proto-oncogene HER-2 as a model, we have demonstrated that affinity-selected epitope mimetics (mimotopes) can provide a defined signature of a polyclonal antibody response. Further, using novel computer algorithms that we have developed, these mimotopes can be used to predict epitope targets.
By combining our novel strategy with existing methods of epitope prediction based on physical properties of an individual protein, we believe that this method offers a robust method for characterizing the breadth of epitope-specificity within a specific polyserum. This strategy is useful as a tool for monitoring immunity following vaccination and can also be used to define relevant epitopes for the creation of novel vaccines.
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Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK