957 resultados para Dermatoglyphic Signs
Resumo:
The early detection of developmental disorders is key to child outcome, allowing interventions to be initiated which promote development and improve prognosis. Research on autism spectrum disorder (ASD) suggests that behavioral signs can be observed late in the first year of life. Many of these studies involve extensive frame-by-frame video observation and analysis of a child's natural behavior. Although nonintrusive, these methods are extremely time-intensive and require a high level of observer training; thus, they are burdensome for clinical and large population research purposes. This work is a first milestone in a long-term project on non-invasive early observation of children in order to aid in risk detection and research of neurodevelopmental disorders. We focus on providing low-cost computer vision tools to measure and identify ASD behavioral signs based on components of the Autism Observation Scale for Infants (AOSI). In particular, we develop algorithms to measure responses to general ASD risk assessment tasks and activities outlined by the AOSI which assess visual attention by tracking facial features. We show results, including comparisons with expert and nonexpert clinicians, which demonstrate that the proposed computer vision tools can capture critical behavioral observations and potentially augment the clinician's behavioral observations obtained from real in-clinic assessments.
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BACKGROUND: Dislocation remains a difficult problem in total hip arthroplasty. Large-diameter femoral heads may lower the incidence of dislocation by enhancing the jump distance and decreasing impingement, but their performance against small-diameter heads has not been assessed. This study compared the mid-term radiographic and functional outcomes of two matched cohorts of patients undergoing total hip arthroplasty who had a high pre-operative risk for dislocation and who received either small-diameter (26- or 28-millimeters) or large-diameter (≥36-millimeters) femoral heads. METHODS: All patients who received large-diameter heads (≥36-millimeter) between 2002 and 2005, and who had pre-operative risk factors for dislocation, were identified in the institution's joint registry. Forty-one patients (52 hips) who received large-diameter heads were identified, and these patients were matched to 48 patients (52 hips) in the registry who received small-diameter femoral heads. RESULTS: At mean final follow-up of 62 months (range, 49 to 101 months), both groups achieved excellent functional outcomes as measured by Harris Hip scores, with slightly better final scores in the large-diameter group (90 vs. 83 points). No patient showed any radiographic signs of loosening. No patient dislocated in the large-diameter femoral head group; the smaller-diameter group had a greater rate of dislocation (3.8%, 2 out of 52). CONCLUSIONS: Large-diameter femoral head articulations may reduce dislocation rates in patients who have a high pre-operative risk for dislocation while providing the same functional improvements and safety as small-diameter bearings.
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BACKGROUND: Despite the high prevalence and global impact of knee osteoarthritis (KOA), current treatments are palliative. No disease modifying anti-osteoarthritic drug (DMOAD) has been approved. We recently demonstrated significant involvement of uric acid and activation of the innate immune response in osteoarthritis (OA) pathology and progression, suggesting that traditional gout therapy may be beneficial for OA. We therefore assess colchicine, an existing commercially available agent for gout, for a new therapeutic application in KOA. METHODS/DESIGN: COLKOA is a double-blind, placebo-controlled, randomized trial comparing a 16-week treatment with standard daily dose oral colchicine to placebo for KOA. A total of 120 participants with symptomatic KOA will be recruited from a single center in Singapore. The primary end point is 30% improvement in total Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score at week 16. Secondary end points include improvement in pain, physical function, and quality of life and change in serum, urine and synovial fluid biomarkers of cartilage metabolism and inflammation. A magnetic resonance imaging (MRI) substudy will be conducted in 20 participants to evaluate change in synovitis. Logistic regression will be used to compare changes between groups in an intention-to-treat analysis. DISCUSSION: The COLKOA trial is designed to evaluate whether commercially available colchicine is effective for improving signs and symptoms of KOA, and reducing synovial fluid, serum and urine inflammatory and biochemical joint degradation biomarkers. These biomarkers should provide insights into the underlying mechanism of therapeutic response. This trial will potentially provide data to support a new treatment option for KOA. TRIAL REGISTRATION: The trial has been registered at clinicaltrials.gov as NCT02176460 . Date of registration: 26 June 2014.
Gene loss, adaptive evolution and the co-evolution of plumage coloration genes with opsins in birds.
Resumo:
BACKGROUND: The wide range of complex photic systems observed in birds exemplifies one of their key evolutionary adaptions, a well-developed visual system. However, genomic approaches have yet to be used to disentangle the evolutionary mechanisms that govern evolution of avian visual systems. RESULTS: We performed comparative genomic analyses across 48 avian genomes that span extant bird phylogenetic diversity to assess evolutionary changes in the 17 representatives of the opsin gene family and five plumage coloration genes. Our analyses suggest modern birds have maintained a repertoire of up to 15 opsins. Synteny analyses indicate that PARA and PARIE pineal opsins were lost, probably in conjunction with the degeneration of the parietal organ. Eleven of the 15 avian opsins evolved in a non-neutral pattern, confirming the adaptive importance of vision in birds. Visual conopsins sw1, sw2 and lw evolved under negative selection, while the dim-light RH1 photopigment diversified. The evolutionary patterns of sw1 and of violet/ultraviolet sensitivity in birds suggest that avian ancestors had violet-sensitive vision. Additionally, we demonstrate an adaptive association between the RH2 opsin and the MC1R plumage color gene, suggesting that plumage coloration has been photic mediated. At the intra-avian level we observed some unique adaptive patterns. For example, barn owl showed early signs of pseudogenization in RH2, perhaps in response to nocturnal behavior, and penguins had amino acid deletions in RH2 sites responsible for the red shift and retinal binding. These patterns in the barn owl and penguins were convergent with adaptive strategies in nocturnal and aquatic mammals, respectively. CONCLUSIONS: We conclude that birds have evolved diverse opsin adaptations through gene loss, adaptive selection and coevolution with plumage coloration, and that differentiated selective patterns at the species level suggest novel photic pressures to influence evolutionary patterns of more-recent lineages.
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Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought. © 2010 Lippincott Williams & Wilkins.
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Signage systems are widely used in buildings to provide information for wayfinding, thereby assisting in navigation during normal circulation of pedestrians and, more importantly, exiting information during emergencies. An important consideration in determining the effectiveness of signs is establishing the region from which the sign is visible to occupants, the so-called Visibility Catchment Area (VCA). This paper attempts to factor into the determination of the VCA of signs, the observation angle of the observer using both experimental and theoretical analysis.
Resumo:
Signage systems are widely used in buildings to provide information for wayfinding, thereby assisting in navigation during normal circulation of pedestrians and, more importantly, exiting information during emergencies. An important consideration in determining the effectiveness of signs is establishing the region from which the sign is visible to occupants, the so-called visibility catchment area (VCA). This study attempts to factor into the determination of the VCA of signs, the observation angle of the observer. In building regulations, it is implicitly assumed that the VCA is independent of the observation angle. A theoretical model is developed to explain the relationship between the VCA and observation angle and experimental trials are performed in order to assess the validity of this model. The experimental findings demonstrate a consistency with the theoretical model. Given this result, the functionality of a comprehensive evacuation model is extended in accordance with the assumptions on which the theoretical model is based and is then demonstrated using several examples
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This paper describes the introduction of chained signage systems into evacuation simulation models. Signage systems are widely used in buildings to provide information for wayfinding, thereby providing exiting information during emergencies and assisting in navigation during normal circulation of pedestrians. Recently a system was developed to introduce simple signs into egress models. The system, known as Visibility Catchment Area or VCA, allowed similated agents to interact with signs which point directly to an exit and signs which are located directly above the exit. However, this approach was not able to represent the more general situation of a sign netwokr within an arbitrarily complex building. In this paper we extend the method to include chained signage systems which provides simulated agents that are unfamiliar with the structure a means by which to navigate to an emergency exit. The model includes the associated navigation behaviours exhibited by occupants that rely on a signage system for navigation including: Searching behaviours, Backtracking behaviours, Lost behaviours and Communication behaviours. The new features are demonstrated through a series of demonstration cases and are shown to produce plausible results.
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Research has established that individuals who tend to vary their personality depending on who they are with, show a variety of signs of psychological maladjustment in comparison to those who do not; they show more negative affect (Baird, Le and Lucas, 2006), lower life satisfaction (Suh, 2002), lower self-esteem (Sheldon et al., 1997), lower role-satisfaction (Donahue et al., 1993), higher rates of depression (Lutz and Ross, 2003), more anxiety (Diehl, Hastings and Stanton, 2001) and poorer physical health (Cross, Gore and Morris, 2003). It has also been shown that personality variability is positively related to the experience of inauthenticity and falsity (Sheldon et al., 1997). Donahue, Roberts, Robins and John (1993) found that personality inconsistency of this type is related to tension within the family. Psychoanalytic theory has also linked the operation of an adult false self to experiences with parents, particularly in early life (Winnicott, 1960). It was hypothesized that personality variability and the adult experience of falsity in social situations would be related to an emotionally unstable relationship with parents. The method to test this comprised a questionnaire-based survey given to a non-clinical population. The final sample comprised 305, with 193 women and 112 men, aged from 19 to 55. The first questionnaire asked participants to rate personality traits, including emotional stability, in three social contexts - with parents, with friends and with work colleagues. The second part involved 3 questions; participants were asked to select in which of the aforementioned three social contexts they felt “most themselves”; in which they were “most authentic” and in which they “put on a front”. It was found, consistent with predictions, that an index of overall personality variability calculated from the personality questionnaire correlated strongly with emotional instability around parents (r = 0.46, p<0.001), while not correlating with emotional instability in either of the other two contexts measured. This suggests a specific link between a person’s relationship with their parents and their overall personality integration. Furthermore, it was found that participants who cited one of the three social contexts (parents, friends, work colleagues) as being one in which they were “more themselves” or “more authentic” had significantly higher ratings of emotional instability with parents than those participants who found that they were equally authentic across settings (F = 9.8, p<0.005). The results suggest a clear link between a person’s relationships with their parents and their adult personality integration. An explanation is that individuals who experience an anxious or ambiguous attachment with their parents in childhood may fear rejection or abandonment in later life, and so habitually adapt their personality to fit in to social contexts as adults, in order to be accepted by others and to minimize the possibility of social rejection. These individuals meanwhile retain an emotionally unstable relationship with their parents in adulthood. This interpretation is speculative but is open to empirical testing. Clinicians should be aware that attachment problems with parents may underlie poor personality integration in adulthood.
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Results from plankton sampling in the northern North Sea with the Continuous Plankton Recorder (CPR) and the Undulating Oceanographic Recorder (UOR) during the Fladen Ground Experiment in 1976 (FLEX 76) are summarised. The first evidence of the spring outbreak of phytoplankton was on 19 April, the day after the first signs of vertical stability of the water column were observed. This was followed by spawning of the euphausiid Thysanoessa inermis and rapid increase in the numbers of Calanus finmarchicus. C. finmarchicus was the most abundant species over the FLEX period (19 March to 3 June) and, together with T. inermis, accounted for over 80% of the dry weight of the zooplankton standing stock. By early June the standing crop of phytoplankton had been depleted and nutrients levels were reduced to very low concentrations in the upper 50 m.
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The Black Sea ecosystem experienced severe eutrophication-related degradation during the 1970s and 1980s. However, in recent years the Black Sea has shown some signs of recovery which are often attributed to a reduction in nutrient loading. Here, SeaWiFS chlorophyll a (chl a), a proxy for phytoplankton biomass, is used to investigate spatio-temporal patterns in Black Sea phytoplankton dynamics and to explore the potential role of climate in the Black Sea's recovery. Maps of chl a anomalies, calculated relative to the 8 year mean, emphasize spatial and temporal variability of phytoplankton biomass in the Black Sea, particularly between the riverine-influenced Northwest Shelf and the open Black Sea. Evolution of phytoplankton biomass has shown significant spatial variability of persistence of optimal bloom conditions between three major regions of the Black Sea. With the exception of 2001, chl a has generally decreased during our 8 year time-series. However, the winter of 2000–2001 was anomalously warm with low wind stress, resulting in reduced vertical mixing of the water column and retention of nutrients in the photic zone. These conditions were associated with anomalously high levels of chl a throughout much of the open Black Sea during the following spring and summer. The unusual climatic conditions occurring in 2001 may have triggered a shift in the Black Sea's chl a regime. The long-term significance of this recent shift is still uncertain but illustrates a non-linear response to climate forcing that makes future ecosystem changes in the pelagic Black Sea ecosystem difficult to predict.
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Recent changes in the seasonal timing (phenology) of familiar biological events have been one of the most conspicuous signs of climate change. However, the lack of a standardized approach to analysing change has hampered assessment of consistency in such changes among different taxa and trophic levels and across freshwater, terrestrial and marine environments. We present a standardized assessment of 25 532 rates of phenological change for 726 UK terrestrial, freshwater and marine taxa. The majority of spring and summer events have advanced, and more rapidly than previously documented. Such consistency is indicative of shared large scale drivers. Furthermore, average rates of change have accelerated in a way that is consistent with observed warming trends. Less coherent patterns in some groups of organisms point to the agency of more local scale processes and multiple drivers. For the first time we show a broad scale signal of differential phenological change among trophic levels; across environments advances in timing were slowest for secondary consumers, thus heightening the potential risk of temporal mismatch in key trophic interactions. If current patterns and rates of phenological change are indicative of future trends, future climate warming may exacerbate trophic mismatching, further disrupting the functioning, persistence and resilience of many ecosystems and having a major impact on ecosystem services.
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Hyperadrenocorticism is a rare endocrine disease in the cat; it is characterized by elevated blood cortisol level that generates numerous clinical signs including hyperglycemia, polyuria, polydipsia, polyphagia and skin diseases. The average age of onset is around 10 years. This disease usually occurs link with other endocrine disorders such as diabetes mellitus.The disease can be produced by functional alteration of the pituitary gland or the adrenal. A case report, with differential diagnosis and review of the literature, is presented.
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La Cadena Datos-Información-Conocimiento (DIC), denominada “Jerarquía de la Información” o “Pirámide del Conocimiento”, es uno de los modelos más importantes en la Gestión de la Información y la Gestión del Conocimiento. Por lo general, la estructuración de la cadena se ha ido definiendo como una arquitectura en la que cada elemento se levanta sobre el elemento inmediatamente inferior; sin embargo no existe un consenso en la definición de los elementos, ni acerca de los procesos que transforman un elemento de un nivel a uno del siguiente nivel. En este artículo se realiza una revisión de la Cadena Datos-Información-Conocimiento examinando las definiciones más relevantes sobre sus elementos y sobre su articulación en la literatura, para sintetizar las acepciones más comunes. Se analizan los elementos de la Cadena DIC desde la semiótica de Peirce; enfoque que nos permite aclarar los significados e identificar las diferencias, las relaciones y los roles que desempeñan en la cadena desde el punto de vista del pragmatismo. Finalmente se propone una definición de la Cadena DIC apoyada en las categorías triádicas de signos y la semiosis ilimitada de Peirce, los niveles de sistemas de signos de Stamper y las metáforas de Zeleny.
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Recently, a chronic idiopathic disease of the esophagus has emerged, which is now known as eosinophilic esophagitis (EoE). Incomplete knowledge regarding the pathogenesis of EoE has limited treatment options. EoE is known to be a Th2-type immune-mediated disorder. Based on previous studies in both patients and experimental models, it is possible that an abnormal reaction to antigen mediates the pathophysiology of EoE. In this thesis, symptoms and signs unique to EoE were identified by an age-matched, case-controlled study of 326 patients with EoE and gastroesophageal reflux disease. The molecular mechanisms involved in antigen detection in the esophagus, in relation to EoE were then investigated. Esophageal epithelial cells were found, for the first time, to be capable of acting as non-professional antigen presenting cells, with the ability to engulf, process and present antigen on MHC class II to T helper lymphocytes. Antigen presentation by esophageal epithelial cells was induced by interferon-γ, which is increased in biopsies from patients with EoE. Next, it was discovered that esophageal epithelial cell lines expressed functional toll-like receptor (TLR) 2 and TLR3, but in esophageal mucosal biopsies only infiltrating immune cells (including eosinophils) expressed TLR2 and TLR3. Finally, the potential involvement of IgE in the pathogenesis of esophageal inflammation was investigated. IgE in the esophagus was found to be present on mast cells, which are increased in density in the esophageal mucosae of patients with EoE and especially those with a history of atopy. Mechanisms of antigen detection may mediate the pathophysiology of EoE in the esophagus through antigen presentation by epithelial cells, detection by TLRs on immune cells and detection through IgE on mucosal mast cells. Together, these findings demonstrate that mechanisms of antigen detection may actually contribute to the pathophysiology of EoE. Through increased understanding of the mechanisms of EoE, the results of this thesis may contribute to future therapy.