Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: Correlation with Zimran and GAUSS-I index and the severity of bone disease

Background: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited.Subjects and Methods: We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A¿>¿C (T134P), 1%; c.721G¿>¿A (G202R), 17%; c.1090G¿>¿T (G325W), 13.9%; c.1208G¿>¿A (S364N), 4.1%; c.1226A¿>¿G (N370S), 17.8%; c.1246G¿>¿A (G377S), 17.6%; c.1289C¿>¿T (P391L), 8.5%; c.1448T¿>¿C (L444P), 3%; and c.1504C¿>¿T (R463C), 24.5%. Recombinant alleles, deletion of 55¿bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity.Results: The ERA showed a statistically significant correlation with chitotriosidase (P¿<¿0.001), age (P¿<¿0.001), spleen size (P¿<¿0.001), ‘Zimran’s Severity Score Index’ (P¿<¿0.01) and the ‘Gaucher Disease Severity Score Index—Type I’ (P¿<¿ 0.0001) at diagnosis of the disorder. Previous to any medical intervention, a comparison between the ERA and bone involvement, demonstrated a statistically significant relationship (P¿<¿0.01) between the two variables.Conclusions: This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the corresponding ERA

Continuation of Unintended Pregnancy.

Background: Forty-four percent of all pregnancies worldwide are unintended. Induced abortion has drawn a lot of attention from clinicians and policy makers, and the care for women requesting it has been covered in many publications. However, abortion challenges the values of many women, is associated with negative emotions, and has its own medical complications. Women have the right to discuss their unintended pregnancy with a clinician and receive elaborate information about other options to deal with it. Continuing an unintended pregnancy, and receiving the necessary care and support for it, is also a reproductive right of women. However, the provision of medical information and support required for the continuation of an unintended pregnancy has hardly been approached in the medical literature. Objective: This review presents a clinical approach to unintentionally pregnant patients and describes the information and support that can be offered for the continuation of the unintended pregnancy. Discussion: Clinicians should approach patients with an unintended pregnancy with a sympathetic tone in order to provide the most support and present the most complete options. A complete clinical history can help frame the problem and identify concerns related to the pregnancy. Any underlying medical or obstetric problems can be discussed. A social history, that includes the personal support from the patient's partner, parents, and siblings, can be taken. Doctors should also be alert of possible cases of violence from the partner or child abuse in adolescent patients. Finally, the clinician can provide the first information regarding the social care available and refer the patients for further support. For women who continue an unintended pregnancy, clinicians should start antenatal care immediately. Conclusion: Unintentionally pregnant women deserve a supportive and complete response from their clinicians, who should inform about, and sometimes activate, all the resources available for the continuation of unintended pregnancy. Summary: Forty-four percent of all pregnancies worldwide are unintended. Induced abortion has drawn a lot of attention and the care for women requesting it has been covered in many publications. However, abortion challenges the values of many women, is associated with negative emotions, and has its own medical complications. Women have the right to discuss their unintended pregnancy with a clinician and receive elaborate information about other options to deal with it. Continuing an unintended pregnancy, and receiving the necessary care and support for it, is also a reproductive right of women. However, the provision of medical information and support required for the continuation of an unintended pregnancy has hardly been approached in the medical literature. This review presents a clinical approach to unintentionally pregnant patients and describes the information and support that can be offered for the continuation of the unintended pregnancy. Clinicians should approach patients with an unintended pregnancy with a sympathetic tone. A complete clinical history can help frame the problem and identify concerns related to the pregnancy. Any underlying medical or obstetric problems can be discussed. A social history, that includes the personal support from the patient's partner, parents, and siblings, can be taken. Doctors should also be alert of possible cases of violence from the partner or child abuse in adolescent patients. Finally, the clinician can provide the first information regarding the social care available and refer the patients for further support. For women who continue an unintended pregnancy, clinicians should start antenatal care immediately

A novel ratiometric fluorescent approach for the modulation of the dynamic range of lateral flow immunoassays

The majority of lateral flow assays (LFAs) use single-color optical labels to provide a qualitative naked-eye detection, however this detection method displays two important limitations. First, the use of a single-color label makes the LFA prone to results misinterpretation. Second, it does not allow the precise modulation of the sensitivity and dynamic range of the test. To overcome these limitations, a ratiometric approach is developed. In particular, using anti-HIgG functionalized red-fluorescent quantum dots on the conjugate pad (as target dependent labels) and blue-fluorescent nanoparticles fixed on the test line (as target independent reporters), it is possible to generate a wide color palette (blue, purple, pink, red) on the test line. It is believed that this strategy will facilitate the development of LFAs by easily adjusting their analytical properties to the needs required by the specific application

Modelling search for people in 900 scenes: A combined source model of eye guidance

How predictable are human eye movements during search in real world scenes? We recorded 14 observers’ eye movements as they performed a search task (person detection) in 912 outdoor scenes. Observers were highly consistent in the regions fixated during search, even when the target was absent from the scene. These eye movements were used to evaluate computational models of search guidance from three sources: Saliency, target features, and scene context. Each of these models independently outperformed a cross-image control in predicting human fixations. Models that combined sources of guidance ultimately predicted 94% of human agreement, with the scene context component providing the most explanatory power. None of the models, however, could reach the precision and fidelity of an attentional map defined by human fixations. This work puts forth a benchmark for computational models of search in real world scenes. Further improvements in modelling should capture mechanisms underlying the selectivity of observers’ fixations during search.National Eye Institute (Integrative Training Program in Vision grant T32 EY013935)Massachusetts Institute of Technology (Singleton Graduate Research Fellowship)National Science Foundation (U.S.) (Graduate Research Fellowship)National Science Foundation (U.S.) (CAREER Award (0546262))National Science Foundation (U.S.) (NSF contract (0705677))National Science Foundation (U.S.) (Career Award (0747120)

¿A qué jugamos? Influencia de los juegos reducidos y condicionados para mejorar el rendimiento fisiológico y físico del alumno

Resumen: Introducción: los juegos reducidos y condicionados (JRC) son una herramienta ideal para combatir una práctica deportiva descontextualizada en educación física (EF). Objetivo: el propósito principal de este estudio ha sido cuantificar el rendimiento fisiológico y físico de un JRC 3vs.3, un JRC 4vs.4 y una tarea técnica analítica mediante el índice global TRIMP Edwards, la percepción subjetiva del esfuerzo (PSE) y la distancia total recorrida. El objetivo secundario fue analizar la relación existente entre mencionadas variables fisiológicas y físicas. Métodos: estudio cuantitativo, cuasi-experimental y transversal, aplicado con una muestra de 80 alumnos desde tercero hasta sexto curso de educación primaria (9,61±1,15 años). Para la cuantificación de las variables se ha empleado la tecnología Polar Team Pro® y la escala de Percepción del Esfuerzo Percibido. Resultados y discusión: se establecen diferencias significativas en las cargas de entrenamiento entre los juegos 3vs.3 y 4vs.4 respecto a las tareas analíticas (p<0,001). También se observan diferencias estadísticamente significativas en los juegos 3vs.3 respecto a los 4vs.4 (p<0,001), y una correlación positiva significativa entre las cargas de juegos y tareas. Conclusiones: los JRC suponen herramientas metodológicas útiles para mejorar el rendimiento fisiológico y físico en EF y, en definitiva, la salud de los escolares, en comparación con una práctica más descontextualizada basada exclusivamente en tareas técnicas. Por ese motivo, se recomienda, por un lado, la implementación de JRC en las unidades didácticas escolares y, por otro, el empleo de herramientas tales como la PSE para controlar las variables fisiológicas y físicas de los alumnos.Abstract: Introduction: the small-sided and conditioned games (SSCGs) are an ideal tool for overcome a decontextualized Physical Education (PE) sport practice. Aim: the main purpose of this research was to quantify and compare the physiological and physical performance from a SSCG 3vs.3, a SSCG 4vs.4 and a technical analytical drill through the global indicator Edwards’ TRIMP, the response perceived-exertion (RPE) and the total distance covered. The secondary objective was to analyze the relationship between the mentioned physiological and physical variables. Methods: a quantitative, quasi-experimental and cross-sectional study was carried out on a sample of 80 students from third to sixth grade in Elementary Education (9.61±1.15 years old). Technology Polar Team Pro™ and the Response Perceived-Exertion have been used to quantify both physiological and physical variables. Results & discussion: results establish significant differences at 3vs.3 and 4vs.4 SSCGs against the drills (p<0.001). Moreover, it was also observed significant differences at 3vs.3 in contrast to 4vs.4 SSGs (p<0.001), and a significant positive correlation was observed among the loads of the games and drills. Conclusions: the SSCGs in PE supposed useful tools designed to improve the physiological and physical performance as well as promoting healthy habits in contrast to a more decontextualized practice based on technical task exclusively. For that reason, it is recommended, on the one hand, to implement SSCGs at the lessons plans and, on the other hand, to use tools such as the RPE to control the students’ physiological and physical variables

Hacia un comportamiento más social y cooperativo en educación física: aplicación del modelo de educación deportiva

The purpose of this investigation is to evaluate and to compare the Sport Education Model (SEM) implementation together with the presence or the absence of pedagogical strategies, which encourage prosocial behaviour among the participants. The sample consisted of two Primary sixth level classes (n = 51; 10.72 ± .66). Among group A, methodologies oriented to foster the prosocial behaviour were developed. Among group B, strategies centred in the individual improvements were developed. Though a one-way ANOVA, pre-test and post-test results of the Antisocial Behaviour Questionnaire (Martorell y González, 1992) were analysed. Results shows significant differences among scores in both classes before starting the model and after it (p = .000). It is observed a significant reduction of antisocial performances among the total scores of the post-test in group A (p = .000). Model-based implementation in Physical Education, Sport Education between them, should be complemented with methodological strategies that encourage prosocial behaviours because it favors positively the students’ values education.&nbsp; Resumen: El propósito de esta investigación es evaluar y comparar la implementación del Modelo de Educación Deportiva (MED), junto con la presencia de estrategias pedagógicas que fomenten conductas prosociales entre los participantes. La muestra constó de dos clases de sexto de Primaria (n = 51; 10,72 ± ,66). En el grupo A se desarrollaron metodologías orientadas a fomentar conductas prosociales. En el grupo B se desarrollaron estrategias centradas en las mejoras individuales. Mediante el ANOVA de un factor, se analizaron los resultados pre-test y post-test del Cuestionario de Conductas Antisociales (Martorell y González, 1992). Los resultados muestran diferencias significativas entre las puntuaciones en ambas clases antes y después de realizar la implementación (p = ,000). Se observa una reducción significativa de actuaciones antisociales en el total del post-test del grupo A (p = ,000). La implementación de modelos-basados en la práctica en Educación Física, entre ellos el MED, se debe complementar con estrategias metodológicas que fomenten conductas prosociales, pues ello favorece positivamente la educación de valores en los escolares

Detecting Snap Points in Egocentric Video with a Web Photo Prior

Abstract. Wearable cameras capture a first-person view of the world, and offer a hands-free way to record daily experiences or special events. Yet, not every frame is worthy of being captured and stored. We propose to automatically predict “snap points ” in unedited egocentric video— that is, those frames that look like they could have been intentionally taken photos. We develop a generative model for snap points that relies on a Web photo prior together with domain-adapted features. Critically, our approach avoids strong assumptions about the particular content of snap points, focusing instead on their composition. Using 17 hours of egocentric video from both human and mobile robot camera wearers, we show that the approach accurately isolates those frames that human judges would believe to be intentionally snapped photos. In addition, we demonstrate the utility of snap point detection for improving object detection and keyframe selection in egocentric video.

Current HHT genetic overview in Spain and its phenotypic correlation: Data from RiHHTa registry

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis. Methods: We used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain. Results: By May 2019, 215 patients were included in the RiHHTa registry with a mean age of 52.5 ± 16.5 years and 136 (63.3%) were women. Definitive HHT diagnosis defined by the Curaca&cedil;o criteria were met by 172 (80%) patients. Among 113 patients with genetic test, 77 (68.1%) showed a genetic variant in ACVRL1 and 36 (31.8%) in ENG gene. The identified genetic variants in ACVRL1 and ENG genes and their clinical significance are provided. ACVRL1 mutations were more frequently nonsense (50%) while ENG mutations were more frequently, frameshift (39.1%). ENG patients were significantly younger at diagnosis (36.9 vs 45.7 years) and had pulmonary arteriovenous malformations (AVMs) (71.4% vs 24.4%) and cerebral AVMs (17.6% vs 2%) more often than patients with ACVRL1 variants. Patients with ACVRL1 variants had a higher cardiac index (2.62 vs 3.46), higher levels of hepatic functional blood tests, and anemia (28.5% vs 56.7%) more often than ENG patients. Conclusions: ACVRL1 variants are more frequent than ENG in Spain. ACVRL1 patients developed symptomatic liver disease and anemia more often than ENG patients. Compared to ACVRL1, those with ENG variants are younger at diagnosis and show pulmonary and cerebral AVMs more frequently