Search

Copyright of Revista de Educación e Investigación en Emergencias is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Elliptical vibration-assisted cutting (EVC) technology is widely used to process hard and brittle materials such as optical glass. However, applying optical glass is severely inhibited by the subsurface damage caused during processing. To solve this problem, this paper studies the surface formation of BK7 optical glass processed by EVC. The removal mechanism of BK7 in EVC ductile processing was analyzed. A critical undeformed cut depth prediction model for EVC processing BK7 was established. The EVC marking experiment of BK7 is carried out. The optimization principle of BK7 processing parameters is summarized. The results show that when the maximum cutting depth is less than or equal to the critical undeformed cutting depth, or greater than the critical undeformed cutting depth, but the set critical parameter △ is less than 0, the processed surface of BK7 optical glass can achieve efficient ductility formation. The critical undeformed cutting depth decreases with the increase of cutting speed and increases with the increase of vibration frequency. By comparing the experimental results with the predicted results, the average error of the two is only 12%, which verifies the model's accuracy. To ensure the cutting efficiency and stability of the cutting system, selecting a small cutting speed and large vibration frequency is conducive to the ductile machining of BK7 using EVC. [ABSTRACT FROM AUTHOR]

Copyright of Psychological Science is the property of Psychological Science Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The need for efficient video coding technology is more important than ever in the current scenario where video applications are increasing worldwide, and Internet of Things (IoT) devices are becoming widespread. In this context, it is necessary to carefully review the recently completed MPEG-5 Essential Video Coding (EVC) standard because the EVC Baseline profile is customized to meet the specific requirements needed to process IoT video data in terms of low complexity. Nevertheless, the EVC Baseline profile has a notable disadvantage. Since it is a codec composed only of simple tools developed over 20 years, it tends to represent numerous coding artifacts. In particular, the presence of blocking artifacts at the block boundary is regarded as a critical issue that must be addressed. To address this, this paper proposes a post-filter using a block partitioning information-based Convolutional Neural Network (CNN). The proposed method in the experimental results objectively shows an approximately 0.57 dB for All-Intra (AI) and 0.37 dB for Low-Delay (LD) improvements in each configuration by the proposed method when compared to the pre-post-filter video, and the enhanced PSNR results in an overall bitrate reduction of 11.62% for AI and 10.91% for LD in the Luma and Chroma components, respectively. Due to the huge improvement in the PSNR, the proposed method significantly improved the visual quality subjectively, particularly in blocking artifacts at the coding block boundary. [ABSTRACT FROM AUTHOR]

Background: Ellis–van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases. Methods: A Chinese pedigree diagnosed with EvC syndrome was enrolled in this study. Whole‐exome sequencing (WES) was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members. Minigene experiments were applied. Results: WES identified a homozygous variant (NM_153717.3:c.153_174 + 42del) in EVC which was inherited from the heterozygous parents and confirmed by Sanger sequencing. Further experiments demonstrated that this variant disrupts the canonical splicing site and produces a new splicing site at NM_153717.3: c.‐164_174del, which ultimately leads to a 337 bp deletion at the 3′ end of exon 1 and loss of the start codon. Conclusion: This is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. Our study demonstrates the pathogenesis of this new variant, expands the spectrum of EVC mutations, and demonstrates that WES is a powerful tool in the clinical diagnosis of diseases with genetic heterogeneity. [ABSTRACT FROM AUTHOR]

Copyright of Long-Term Care Nursing / Pielegniarstwo w Opiece Dlugoterminowej is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far. Methods: We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed. Results: We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome. Conclusion: We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before.

Introduction: Stroke is one of the main causes of disability in elderly, and the main cause of neurological emergencies. Mean platelet volume (MPV) has a positive correlation with prothrombotic diseases, highlighting thrombotic events and venous thrombosis disease. Aim: We aim to determine the relation between neutrophil/lymphocyte (N/L) index and MPV/platelet count (PC) index with prognosis in cerebral vascular events in the Mexican population. Methods: We included 236 patients with 137 males (74-78 years) and 81 females (64-72 years); 58 hemorrhagic cases, 44 parenchymal, eight subarachnoid, and 6 subdural; 160 ischemic cases, including 149 ischemic, 2 lacunar, and 9 Transient Ischemic Attack (TIA). All patients had brain imaging, initial, and follow-up hematic cytometry to determine indexes and compare it between them. results: Neutrophils/lymphocytes index lower than 3 (p = 0.015) and MPV/PC index higher than 0.031 (p = 0.001) increase significantly in stroke during the first 48 h. MPV > 10 fl increase mortality (p = 0.014); considering all strokes; receiver operating characteristic curve showed AUC values of MPV/PC 0.822 (0.760-0.885) (p = 0.001) and N/L 0.661 (0.579-0.742) (p = 0.001) with a significant difference between AUC values (p = 0.001). Conclusions: In our study, mortality rises in patients over 70 years old, especially in hemorrhagic events, females; and patients with higher N/L and MPV/PC indexes. The MPV/ PC is better at predicting severity and long hospital stay in stroke compared to the N/L index. The high platelets levels are related to stroke as well as other studies before; however, this is related to the worst prognosis, increasing mortality and long hospital stay in our population. [ABSTRACT FROM AUTHOR]

Background: Health professionals' engagement in translational health and medical research (HMR) is fundamental to evidence-based practice leading to better patient health outcomes. However, there is a decline in the number of health professionals undertaking research which has implications for patient health and the economy. Informed by the motivation-based expectancy-value-cost (EVC) and self determination theories (SDT), this systematic literature review examined the barriers and facilitators of health professionals' (HPs) motivation to undertake research. Methods: The literature was searched between 2011 and 2021 for relevant peer-reviewed articles written in English, using CINAHL Complete, Informit, Medline Ovid, Medline (PubMed), Scopus, Web of Science and Google Scholar databases. This systematic review was performed and reported in accordance with the PRISMA guidelines. Results: Identified barriers to HPs' engagement with research included the lack of knowledge, skills, and competence to conduct research, lack of protected research time, lack of funding and lack of organisational support. Integration of the findings of this review based on the EVC and SDT theories indicate that research capacity, ie, expectancy and competence is highly influenced by attitude, ie, the type of value (attainment, intrinsic or utility) and connection attributed to research. HPs who had very positive attitude towards research demonstrated all three values and were keen to take up research despite the barriers. Those who had a positive attitude were only motivated to do research because of its utility value and did not necessarily see it as having personal relevance for themselves. HPs who were unmotivated did not see any personal connection or relatedness to the research experience and saw no value in research. Conclusion: The attitude HPs hold in their value of research is a catalyst for motivation or amotivation to engage in research as it directly influences the relevance of barriers. Facilitators that expedite the research journey have been attributed to research training, mentorship programs and supportive organisational research culture. Motivation of HPs explored through EVC and SDT is critical to the maintenance of a research culture and the clinician-researcher development pipeline. [ABSTRACT FROM AUTHOR]

Ellis‐van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial phenotypic variability in three new EvC syndrome cases. Affected males in this study showed only ectodermal abnormalities, whereas an affected female showed the classical presentation of EvC Syndrome, including bilateral postaxial polydactyly of hands and feet, and congenital heart defects. Whole exome sequencing was performed to identify the causative variant, followed by validation and segregation analysis using Sanger sequencing. A homozygous deletion variant (c.731_757del) was identified in exon 6 of the EVC gene (NM_153717.2). The identified variant is considered to be the most likely candidate variant for the EvC syndrome in the family based on previous reports validating the role of EVC variants in the EvC syndrome. The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous. Our family is remarkable in highlighting the variable expressivity of the EvC phenotype within the same family, due to a homozygous deletion mutation in the EVC gene. The variable expressivity might be due to the hypomorphic nature of mutation, or the presence of additional variants in modifier genes or in the regulatory regions of the EVC/EVC2 genes. [ABSTRACT FROM AUTHOR]

The assessment and reliable prediction of the productivity of grassland communities are largely determined by the approaches and methods used. The use of information on the species composition of the plant community and its functional structure in determining the primary production expands the possibilities of using modern information databases of geobotanical data. Selecting practically significant functional groups of species (graminoids, motley grasses, and legumes) in the composition of grassland communities of hayfields and pastures and determining dominant species allows one to include indicators of biodiversity in estimating the productivity of agricultural lands. Experience in predicting the amount of aboveground phytomass of grassland ecosystems using the data on the functional composition and projective cover of species is discussed. Cluster analysis has confirmed the assumption of the relationship between community biodiversity and its productivity. Based on the main provisions of the dominance hypothesis, by building a statistical linear model, the possibility of predicting the value of aboveground biomass from data on the species composition of communities and the abundance of the dominant functional groups of plants, which act as universal evaluation criteria, has been tested. The predictive statistical model is constructed on the basis of processing experimental data received from 32 sample geobotanical areas. The model shows the relationship between the value of the predicted biomass for the community and the abundance of the main functional groups of plants, the way they are used, and the result of assigning community to the classification categories of the EVC and EUNIS systems. The applied classifications, based on species lists and indicators of the projective cover of species, bring a component of biodiversity in the further evaluation of community productivity. The use of the developed linear regression model makes it possible to estimate the productivity of grassland communities similar in species composition and belonging to the same classification categories with a sufficiently high degree of reliability without the direct collection of data on the produced biomass. The model makes it possible to take into account the contribution of plant species composition to the provision of productive ecosystem services, providing the development of an accessible technique for their evaluation. [ABSTRACT FROM AUTHOR]

Ellis van Creveld syndrome (EVC) is a rare autosomal recessive disorder also called chondroectodermal dysplasia. This study reports on a 40‐year‐old woman from Iran with a syndromic appearance consisting of a coarse face, conical anterior teeth, dental agenesis and permanent teeth at birth, several small extralabial, nonmidline frenula with a high‐arched palate, and a large maxillary labial frenulum. The patient had cyanosis on her lips since childhood and a history of adenoid tonsillectomy surgery. She also had androgenic alopecia, an elongated trunk with excessive lordosis and pectus excavatum, polycystic ovarian syndrome, and a history of two periods in a month. She also had multiple fibrocystic cysts in her breasts, lower extremity deformity, dysplastic genu valgum, and short limb dwarfism; she had undergone left knee surgery four times and had severe osteoporosis in some of her bones and some hyperpigmented patches on the dorsal of the left hand. Her hands and feet were also wide and markedly deformed with hypoplastic fingernails and toenails, and she had bimanual hexadactyly on the ulnar side of the hands. She also had a history of severe hypotension and cyanosis during surgery and suffered from congenital heart failure and had undergone open heart surgery for correcting her atrial heart defect. In this study pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts was reported for first time in this case of EVC syndrome. This case was reported and all articles regarding common, uncommon, rare, and extremely rare presentations of this syndrome were reviewed. [ABSTRACT FROM AUTHOR]

Clinical expression of Ellis‐van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice‐site in‐frame change (c.1316–7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient‐derived fibroblasts and Evc–/– mouse embryonic fibroblasts showed that p.Arg622Ter is a loss‐of‐function mutation, whereas p.Arg663Pro and the splice‐site change c.1316–7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as "common atrium/AVCD with postaxial polydactyly" is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype‐phenotype correlations in this syndrome. [ABSTRACT FROM AUTHOR]

The diagnosis and treatment of acute ischemic stroke (AIS) have undergone great changes in the past few decades. The keys to a correct selection of the best therapeutic modality are an early identification of patients with AIS symptoms, the correct interpretation of the different neuroimaging techniques, and, if possible, to provide a reperfusion therapy as soon as possible. This review will analyze the principles of each of the new neuroimaging techniques for AIS, how these new techniques can help in clinical practice, the different treatment options, as well as the inclusion and exclusion criteria for each of them. A systematic research was conducted on MEDLINE (PubMed), using the following Medical Subject Headings terms: (AIS) + (neuroimaging/techniques) + (thrombolytic therapy) + (mechanical thrombectomy). We selected original articles, as well as clinical trials and review articles. Each article was read to completion, to check for other useful references. We also reviewed the different therapeutic options for AIS, including endovascular approaches through a selection of the most recent neuroimaging techniques. In conclusion, intravenous thrombolysis continues to be the cornerstone for the treatment of AIS. The attending physician has a fundamental role in suspecting and confirming large vessel occlusions, and in deciding which is the most appropriate therapeutic option for each case, with important prognostic implications for the patient. [ABSTRACT FROM AUTHOR]

We assessed spatial and temporal patterns of elk (Cervus elaphus nelsoni) collisions with vehicles from 1994-2004 (n = 456) along a 30-km stretch of highway in central Arizona, currently being reconstructed in five sections with 11 wildlife underpasses, 6 bridges, and associated ungulate-proof fencing. We used Global Positioning System (GPS) telemetry to assess spatial and temporal patterns of elk highway crossings and compare to elk-vehicle collision (EVC) patterns. Annual EVC were related to traffic volume and elk population levels (r2 = 0.750). EVC occurred in a non-random pattern. Mean before-construction EVC (4.5/year) were lower than EVC on sections under construction (12.4 EVC/year). On the only completed section, EVC did not differ among before-, during-, and after-construction classes, even though mean traffic volume increased 67 percent from before- to after-construction levels, pointing to the benefit of three passage structures and fencing. On one section under construction, EVC increased 2.5x when fencing associated with seven passage structures was incomplete; EVC dropped dramatically once fencing was completed. We accrued 101,506 fixes from 33 elk (25 females, 8 males) fitted with GPS collars May 2002-April 2004. Elk crossed the highway 3,057 times (mean = 92.6/elk) in a non-random pattern. We compared EVC and crossings at five scales; the strongest relationship was at the highway section scale (r2 = 0.942). Strength of the relationship and management utility were optimized at the 1.0-km scale (r2 = 0.701). EVC frequency was associated with proximity to riparian-meadow habitats adjacent to the highway at the section (r2 = 0.962) and 1.0 km (r2 = 0.596) scales. Though both fall EVC and crossings exceeded expected levels, the proportion of EVC in September-November (49%) exceeded the proportion of crossings and coincided with the breeding season, migration of elk from summer, and high use of riparian-meadow habitats adjacent to the highway. The proportion of EVC and crossings by day did not differ; both reflected avoidance of crossing the highway during periods of highest traffic volume. Though traffic volume was highest from Thursday-Saturday, the proportion of EVC was below expected. A higher proportion of EVC (59%) occurred relative to crossings (33%) in the evening hours (17:00-23:00); 34 percent of EVC occurred within a one-hour departure of sunset, and 55.5 percent within a two-hour departure. EVC data are valuable in developing strategies to maintain permeability and increase highway safety including selecting locations of passage structures.

Abstract Background Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generation consanguineous Han‐Chinese pedigree. Methods A five‐generation, 12‐member Han‐Chinese pedigree was enrolled in this study. Exome sequencing was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members and 200 unrelated ethnicity‐matched controls. Results A novel homozygous variant, c.2014C>T, p.(Q672*), in the EvC ciliary complex subunit 1 gene (EVC), was detected in the patient, which was cosegregated with the disease in the family and absent in the controls. Conclusion The identified novel homozygous EVC variant, c.2014C>T, p.(Q672*), was responsible for EVC in this Han‐Chinese pedigree. The findings in this study extend the EVC mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management.

In search of sustainable business models, product innovation must fulfil a double objective: the new product must have a higher (market) value, and at the same time a lower eco-burden. To achieve this objective, it is an imperative that the value, the total costs of ownership, and the eco-burden of a product are analysed at the beginning of the design process (idea generation and concept development). The design approach that supports such a design objective, is called Eco-efficient Value Creation (EVC). This approach is characterised by a two-dimensional representation: the eco-burden at the y-axis and the costs or the value at the x-axis. The value is either the Willingness to Pay or the market price. The eco-burden is expressed in eco-costs, a monetised single indicator in LCA (Life Cycle Assessment): an app for IOS and Android, and excel look-up tables at the internet, enable quick assessment of eco-costs. A practical example is given: the design of a new concept of domestic street lighting system for the city of Rotterdam. This new concept results in a considerable reduction of carbon footprint and eco-costs, and shows the benefits for the municipality and for the residents, resulting in a viable business case.

Objective: When 2 vehicles of different sizes collide, the occupants of the smaller vehicle are more likely to be injured than the occupants of the larger vehicle. The larger vehicle is both more protective of its own occupants and more aggressive toward occupants of the other vehicle. However, larger, heavier vehicles tend to be designed in ways that amplify their incompatibility with smaller, lighter vehicles (by having a higher ride height, for example). A 2012 study by the Insurance Institute for Highway Safety (IIHS) concluded that fatalities caused by design incompatibility have decreased in recent years. The current study was conducted to update the 2012 IIHS analysis and to explore trends in vehicle incompatibility over time. Methods: Analyses examined deaths in crashes involving 1- to 4-year-old passenger vehicles from 1989 to 2016 collected from the Fatality Analysis Reporting System (FARS). Trends in driver risk were examined by comparing driver death rates per million registered vehicle years across vehicle type and size. Trends in aggressivity were examined by comparing partner driver death rates across vehicle type and size. Results: Cars and SUVs have continued their trend toward reduced incompatibility. In 1989-1992, SUVs were 132% more likely to kill the driver in a partner car compared with when a car crashed with another car. By 2013-2016, this value had dropped to 28%. Pickups and cars remain just as incompatible in 2013-2016 as they were in 1989-1992, however (159% vs. 158%). Remaining pickup incompatibility may be largely due to excess curb weight rather than to shape or design features, because light pickups were just 23% more likely to kill the driver in a partner car compared with when a car crashed with another car. Conclusions: The trend toward reduced fleet incompatibility has continued in the latest crash data, particularly for cars and SUVs. Although pickup-car incompatibility has also decreased over time, pickups remain disproportionately aggressive toward other vehicles, possibly due to their greater average curb weight. Reducing the weight of some of the heaviest vehicles and making crash avoidance technology fitment more widespread may be promising means to reduce remaining fleet incompatibility. Identifying the source of remaining incompatibility will be important for safety improvements going forward. [ABSTRACT FROM AUTHOR]

This paper investigates the performance of elliptical vibration cutting (EVC) in machining of AISI 1045 steel using AdvantEdge finite element simulation. The effectiveness of two key parameters frequency and amplitude is discussed. The purpose is to explore the effect of EVC on machining performance and to compare it with conventional cutting process, to prove that the EVC technique could generate better surface finishing. To be specific, the following aspects are compared: cutting force, shear stress, normal stress, Mise stress contour, and temperature variation; the residual stress is also examined. It is found that EVC has lower cutting force, stress, and temperature, and the residual stress acts out small change compared with conventional cutting. The frequency and amplitude all have influence in their own way on machining process. [ABSTRACT FROM AUTHOR]

Here, the optimal placement and sizing of electric vehicle charging stations (EVCSs) are presented. High penetration of electric vehicles (EVs) and resulted losses in network would consequently impose more complexity to solution of application problem of EVCSs. To overcome this problem, the model would consider the incentive‐based demand response programmes (DRPs), which is handled by particle swarm optimisation algorithm. Minimising investment cost, connection cost, total cost of losses, and demand response (DR) cost are the objective functions of this problem here. Finally, the proposed model is applied to a test system and results are discussed. By comparing the results obtained through different scenarios, it is concluded that the application of DRP results in a distinct reduction in grid losses and total costs. [ABSTRACT FROM AUTHOR]

Methods for SNP-based phenotype prediction have recently been developed, but prediction accuracy data for several populations and regions are missing. We analysed the accuracy of hair and eye colour predictions for 111 individuals residing in Sweden, using the ForenSeq system and the MiSeq FGx instrument (Verogen). Observed colours were compared to predicted colours, using the colour with the highest probability value for each prediction. Overall, 80% of eye colour predictions were correct, but the system failed to predict intermediate/green eye colour in our cohort. For hair colour, 58% of predictions were correct, and the majority of incorrect predictions were related to brown hair. To assess if prediction accuracy could be improved by the exclusion of predictions with low probabilities, we applied a threshold of ≥0.7. The threshold improved eye colour prediction, from 80% to 85% correct predictions, whereas hair colour prediction accuracy was virtually unaffected (58% versus 57% correct predictions). In summary, the phenotype prediction accuracy was acceptable in our cohort and the use of a threshold was only useful for eye colour predictions. [ABSTRACT FROM AUTHOR]

Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. Materials, Methods and Results: A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal dysplasia. Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, thoracic narrowness, endocardial cushion defects, transposition of the great arteries, shortening of the long bones, malposition of the toes, and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, thoracic narrowness, and endocardial cushion defects. The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, thoracic dysplasia, endocardial cushion defects, shortening of the long bones, and malposition of the toes and hypoplastic nails. The phenotype of each of the two siblings was consistent with EVC syndrome. Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene. A heterozygous deletion mutation of a 26-bp deletion of c.871-2_894del26 encompassing the junction between intron 7 and exon 8 of the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of c.1195C >T, p.R399X in exon 10 of the EVC2 gene was found in the father and two siblings. Conclusion: Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.

Ellis-van Creveld syndrome (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, polydactyly, dystrophic nails and oral defects. To obtain further insight into the genetics of EvC, we screened EVC/ EVC2 mutations in eight Vietnamese EvC patients. All the patients had a congenital heart defect with atypical oral and/or skeletal abnormalities. One had compound heterozygous EVC2 mutations: a novel mutation c.769G > T-p.E177X in exon 6 inherited from father and another previously reported c.2476C > T-p.R826X mutation in exon 14 inherited from mother. The EVC2 mRNA expression level was significantly lower in the patient and her parents compared to controls. Another case had a novel heterozygous EVC mutation (c.1717C > G-p.S572X) in exon 12, inherited from his father. Of note, the mother without any EVC mutation on Sanger sequencing showed a lower expression level of EVC mRNA compared with controls. SNP array analysis revealed that the patient and mother had a heterozygous 16.4 kb deletion in EVC. This patient also had a heterozygous novel variant in exon 9 of EFCAB7 (c.1171 T > C-p.Y391H), inherited from his father. The atypical cardiac phenotype of this patient and the father suggested that EFCAB7 may modify the phenotype by interacting with EVC. In conclusion, we detected two novel nonsense mutations and a partial deletion of EVC/ EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. [ABSTRACT FROM AUTHOR]

Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polydactyly, nail dystrophy, dental abnormalities and in a proportion of patients, congenital cardiac malformations. Weyers acrofacial dysostosis (Weyers) is another dominantly inherited disorder allelic to EvC syndrome but with milder phenotypes. Both disorders can result from loss-of-function mutations in either EVC or EVC2 gene, and phenotypes associated with the two gene mutations are clinically indistinguishable. We present here a clinical and molecular analysis of a Chinese family manifested specific features of EvC syndrome. Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. In vitro minigene expression assay, RT-PCR and sequencing analysis demonstrated that c.384+5G>C mutation abolished normal splice site and created a new cryptic acceptor site within exon 4, whereas c.1465-1G>A mutation affected consensus splice junction site and resulted in full exon 11 skipping. These two aberrant pre-mRNA splicing processes both produced in-frame abnormal transcripts that possibly led to abolishment of important functional domains. To our knowledge, this is the first report of EVC mutations that cause EvC syndrome in Chinese population. Our data revealed that EVC splice site mutations altered splicing pattern and helped elucidate the pathogenesis of EvC syndrome. [ABSTRACT FROM AUTHOR]

This paper describes an efficient method using simulation for developing and analyzing train brake curve calculation methods for the on-board computer of the ETCS system. An application example with actual measurements is also presented.

DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with 'intelligence' in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60 % for brown and blue eye color, respectively, and 77 % for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93 %. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation. [ABSTRACT FROM AUTHOR]

One of the hallmarks of cancer, global gene expression alteration, is closely associated with the development and malignant characteristics associated with adult T-cell leukemia ( ATL) as well as other cancers. Here, we show that aberrant overexpression of the Ellis Van Creveld ( EVC) family is responsible for cellular Hedgehog ( HH) activation, which provides the pro-survival ability of ATL cells. Using microarray, quantitative RT- PCR and immunohistochemistry we have demonstrated that EVC is significantly upregulated in ATL and human T-cell leukemia virus type I ( HTLV-1)-infected cells. Epigenetic marks, including histone H3 acetylation and Lys4 trimethylation, are specifically accumulated at the EVC locus in ATL samples. The HTLV-1 Tax participates in the coordination of EVC expression in an epigenetic fashion. The treatment of sh RNA targeting EVC, as well as the transcription factors for HH signaling, diminishes the HH activation and leads to apoptotic death in ATL cell lines. We also showed that a HH signaling inhibitor, GANT61, induces strong apoptosis in the established ATL cell lines and patient-derived primary ATL cells. Therefore, our data indicate that HH activation is involved in the regulation of leukemic cell survival. The epigenetically deregulated EVC appears to play an important role for HH activation. The possible use of EVC as a specific cell marker and a novel drug target for HTLV-1-infected T-cells is implicated by these findings. The HH inhibitors are suggested as drug candidates for ATL therapy. Our findings also suggest chromatin rearrangement associated with active histone markers in ATL. [ABSTRACT FROM AUTHOR]

The great majority of phenotypic characteristics are complex traits, complicating the identification of the genes underlying their expression. However, both methodological and theoretical progress in genome-wide association studies have resulted in a much better understanding of the underlying genetics of many phenotypic traits, including externally visible characteristics (EVCs) such as eye and hair color. Consequently, it has become possible to predict EVCs from human samples lacking phenotypic information. Predicting EVCs from genetic evidence is clearly appealing for forensic applications involving the personal identification of human remains. Now, a recent paper has reported the genetic determination of eye and hair color in samples up to 800 years old. The ability to predict EVCs from ancient human remains opens up promising perspectives for ancient DNA research, as this could allow studies to directly address archaeological and evolutionary questions related to the temporal and geographical origins of the genetic variants underlying phenotypes. [ABSTRACT FROM AUTHOR]

Abstract: Ellis van Creveld syndrome and Weyers acrofacial dysostosis are allelic disorders caused by mutations in EVC or EVC2 genes. We illustrate the results of direct analysis of whole EVC and EVC2 genes'' coding regions in 32 unrelated families with clinical diagnosis of Ellis van Creveld syndrome and in 2 families with Weyers acrofacial dysostosis. We identified mutations in 27/32 (84%) cases with Ellis van Creveld syndrome and 2/2 cases with Weyers acrofacial dysostosis. Of the Ellis van Creveld syndrome cases, 20/27 (74%) had a mutation in EVC and 7/27 (26%) in EVC2 genes. The two subjects with Weyers acrofacial dysostosis had a heterozygous mutation in the last exon of EVC2. In total, we detected 25 independent EVC and 11 independent EVC2 mutations. Nineteen EVC mutations (19/25, 76%) and 4 EVC2 mutations (4/11, 36%) were novel. Also one EVC2 gene mutation found in Weyers acrofacial dysostosis was novel. In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes. Current findings expand the Ellis van Creveld syndrome and Weyers acrofacial dysostosis mutation spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for Weyers acrofacial dysostosis mutations. Accordingly, EVC2 exon 22 should be analyzed with priority by mutation screening in individuals with a suspected diagnosis of Weyers acrofacial dysostosis. [Copyright &y& Elsevier]

Objective: Passenger cars often are at a disadvantage when colliding with light trucks (sport utility vehicles [SUVs] and pickups) due to differences in mass, vehicle structural alignment, and stiffness. In 2003, vehicle manufacturers agreed to voluntary measures to improve compatibility, especially in front-to-front and front-to-side crashes, with full adherence to be achieved by September 2009. This study examined whether fatality rates are consistent with the expected benefit of this agreement. Methods: Analyses examined 2 death rates for 1- to 4-year-old passenger vehicles during 2000–2001 and 2008–2009 in the United States: occupant deaths per million registered vehicle years in these vehicles and deaths in other cars that collided with these vehicles in 2-vehicle crashes per million registered vehicle years. These rates were computed for each study period and for cars/minivans (referred to as cars), SUVs, and pickups by curb weight (in 500-pound increments). The latter death rate, referred to as the car crash partner death rate, also was computed for front-to-front crashes and front-to-side crashes where the front of the 1- to 4-year-old vehicle struck the side of the partner car. Results: In both study periods, occupant death rates generally decreased for each vehicle type both with increasing curb weight and over time. SUVs experienced the greatest declines compared with cars and pickups. This is due in part to the early fitment of electronic stability control in SUVs, which drastically reduced the incidence of single-vehicle rollover crashes. Pickups had the highest death rates in both study periods. Car crash partner death rates generally declined over time for all vehicle categories but more steeply for SUVs and pickups colliding with cars than for cars colliding with cars. In fact, the car crash partner death rates for SUVs and cars were nearly identical during 2008–2009, suggesting that the voluntary design changes for compatibility have been effective. Car crash partner death rates also declined for pickups, but their rates were consistently the highest in both study periods. Conclusion: It is impossible to disentangle the individual contributions of the compatibility agreement, improved crashworthiness of cars, and other factors in reducing car crash partner fatality rates. However, the generally larger reductions in car crash partner death rates for SUVs and pickups indicate the likely benefits of the agreement. Overall, this study finds that the system of regulatory testing, voluntary industry initiatives, and consumer information testing has led to a passenger vehicle fleet that is much more compatible in crashes. [ABSTRACT FROM PUBLISHER]

The cerebrovascular disease (CVD) is the third leading cause of death in industrialized countries. In Mexico there are about 200,000 people who suffer stroke each year. The aftermath dominant impact on the quality of life of patients and family because their independence is limited. Here we present the approach of EVC with virtual reality in which stimulation is used by various devices to interact with the virtual environment and give the patient the feeling that is manipulating real objects, this therapy feel that is a interactive exercise and fun compared to the conventional. 6 patients were studied 2 women and 4 men he aims to generate effective synaptic potentiation thus increase practtico-induced neuroplasticity. [ABSTRACT FROM AUTHOR]

Abstract: The ability to predict Externally Visible Characteristics (EVCs) from DNA, also referred to as Forensic DNA Phenotyping (FDP), is an exciting new chapter in forensic genetics holding great promise for tracing unknown individuals who are unidentifiable via standard forensic short tandem repeat (STR) profiling. For the purpose of DNA-based eye colour prediction, we previously developed the IrisPlex system consisting of a multiplex genotyping assay and a prediction model based on genotype and phenotype data from 3804 Dutch Europeans. Recently, we performed a forensic developmental validation study of the highly sensitive IrisPlex assay, which currently represents the only validated tool available for DNA-based prediction of eye colour in forensic applications. In the present study, we validate the IrisPlex prediction model by extending our initially described model towards genotype and phenotype data from multiple European populations. We performed IrisPlex analysis on 3840 individuals from seven sites across Europe as part of the European Eye (EUREYE) study for which DNA and high-resolution eye images were available. The accuracy rate of correctly predicting an individual''s eye colour as being blue or brown, above the empirically established probability threshold of 0.7, was on average 94% across all seven European populations, ranging from 91% to 98%, despite the large variation in eye colour frequencies between the populations. The overall prediction accuracies expressed by the area under the receiver characteristic operating curves (AUC) were 0.96 for blue and 0.96 for brown eyes, which is considerably higher than those established before. The IrisPlex prediction model parameters generated from this multi-population European dataset, and thus its prediction capabilities, were highly comparable to those previously established. Therefore, the increased information regarding eye colour phenotype and genotype distributions across Europe, and the system''s ability to provide eye colour predictions across Europe accurately, both highlight additional evidence for the utility of the IrisPlex system in forensic casework. [Copyright &y& Elsevier]