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The purpose of this study was to evaluate the inter-limb asymmetry in the kinematic parameters of the approach run in elite-level female Class T63/T64 long jumpers and its relationship to performance. Three Class T63 and nine Class T64 female long jumpers were examined during a competition. The temporal and kinematic parameters of their approach steps (step length: SL; step frequency: SF; average step velocity: SV) were measured using a panning video method and speed radar. The symmetry angle was the measure of inter-limb asymmetry. The results revealed that SF and SV were significantly (p < 0.05) larger in the intact lower limb. Significant (p < 0.05) asymmetry was revealed for SL, SF, and SV in 2/12, 3/12, and 1/12 jumpers, respectively. The direction of asymmetry for SF was towards the leg wearing the prosthesis for all examined jumpers. The official jump distance was significantly (p < 0.05) positively correlated with the maximum velocity attained during the approach and negatively correlated with the symmetry angle for SF. It is concluded that the observed asymmetry in SF was compensated for by the modifications observed in the SL that consequently resulted in no asymmetry in SV, leading the participants to effectively utilize their approach speed optimally in terms of long jump performance.

Abstract Background The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain. Methods This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity was detected in DBS, additional confirmatory diagnostic measurements were conducted, including GAA activity in lymphocytes, fibroblasts, or muscle and/or genetic testing. Results The diagnosis of LOPD was confirmed in 2 out of 322 patients (0.6%). Reasons for suspecting LOPD diagnosis were polymyositis or any type of myopathy of unknown etiology (in one patient), and asymptomatic or pauci-symptomatic hyperCKemia (in the other). The time between symptom onset and LOPD diagnosis was 2.0 and 0.0 years. Both patients were asymptomatic, with no muscle weakness. Additionally, 19.7% of the non-LOPD cases received an alternative diagnosis. Conclusions Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.

Abstract 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 Curaçao 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.

Long jump has been extensively used in the investigation of perception-action coupling. The restraints imposed by the tasks nested at the take-off board compel skilled long jumpers to adjust the length of the final 4-5 steps of the run-up based on visual input informing about time-to-arrival. This exploratory study examined the visual regulation parameters in athletes with intellectual impairment (II) during the approach of the long jump. The approach run of 10 elite level T20 Class long jumpers (IIJ) and 10 international level long jumpers without II (NIJ) was recorded during competition. An initial ascending variability of foot placement was observed for both groups, followed by a descending one in the late phase of the approach. The parameters associated with the onset of visual control for IIJ were found to be not statistically significantly different to those of NIJ. The mean maximum toe-board distance variability was 0.38 m and 0.27 m for IIJ and NIJ, respectively. The onset of regulation commenced at the fifth- and third-to-last step for IIJ and NIJ, respectively. The finding that IIJ adjust the last steps of the run-up with sufficient accuracy suggests the presence of visual control. This information can be used to optimize long jump approach run training for athletes with II.

Background Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher’s disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. Methods This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher’s disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results [“Gaucher Disease Severity Score Index Type I" (GauSSI-I) and “Gaucher disease severity scoring system” (GD-DS3)]. Results Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. Conclusions Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher’s disease Type I.

The purpose of this study was to define the variables typifying the long jump approach run phase in paralympic-level male amputees. The sample comprised of the eleven (4 transtibial, 5 transfemoral and 2 single below-the-knee amputees). The parameters analysed were: official distance, toe-to-board distance, effective distance, stride contact time, stride flight time, total stride time, stride length, stride frequency, stride velocity, horizontal velocity, vertical velocity, resultant velocity, height of body center of mass, take-off stride angle, relative differences in stride length and relative differences in stride frequency. The findings of the study revealed that 77.8% of the para-athletes perform the take-off with the leg supported by the prosthesis. Horizontal velocity during the last three strides before take-off has been shown to have a high correlation with the official jump distance: 3rd last (r=0.65, p

Las discusiones acerca de la población con discapacidades fueron insertadas en los cursos de Ciencias de la Actividad Física y Deporte y Educación Física como forma de atender a las disposiciones acordadas en diferentes documentos legales elaborados a lo largo de discusiones sobre el proceso de inclusión. Este proceso resultó en una mayor participación de ese grupo en otros ámbitos sociales entre ellos el deporte, el ocio y las competiciones. Eso nos llevó a preguntarnos cómo esta temática es abordada en los cursos citados. Para comprender este factor analizamos los planes docentes o programas de asignaturas de dos instituciones, una de Brasil y otra de España, que ofrecen estos cursos y que se destacan por la relevancia en el área en sus países. Observamos que la cantidad de horas de trabajo dedicado a la discusión sobre las personas con discapacidad es prácticamente la misma en los dos países, aunque la institución brasileña ofrezca mayor cantidad de asignaturas. Además notamos que la institución brasileña presenta repeticiones de temas que tratan específicamente de la etiología de la discapacidad. Las lecturas específicas indicadas en los programas pueden ser más diversificadas en algunas asignaturas. Por fin, notamos que apenas las asignaturas con temática específica sobre las personas con discapacidad las abordan. Creemos que los cursos pueden ofrecer más posibilidades de discusión sobre esta población en otras asignaturas, ya que las personas con discapacidad participan activamente de diversos espacios donde los profesionales de la Educación Física actúan.

En el momento actual, de consolidación del currículum competencial, tenemos la oportunidad de repensar la evaluación. Con el objetivo de construir y validar procedimientos de evaluación de competencias en Educación Física para la Enseñanza Primaria, un equipo de profesores universitarios, juntamente con un grupo de maestros, hemos utilizado un método de investigación-acción. A lo largo de este artículo, presentamos el proceso seguido que será confrontado con las características de una buena evaluación de competencias. Entre estas características destacamos: establecer situaciones problemáticas; permitir la integración y transferencia de aprendizaje; aplicar la respuesta a contextos diferentes.

Long jump has been extensively used in the investigation of perceptionaction coupling. The restraints imposed by the tasks nested at the take-off board compel skilled long jumpers to adjust the length of the final 4-5 steps of the run-up based on visual input informing about time-to-arrival. This exploratory study examined the visual regulation parameters in athletes with intellectual impairment (II) during the approach of the long jump. The approach run of 10 elite level T20 Class long jumpers (IIJ) and 10 international level long jumpers without II (NIJ) was recorded during competition. An initial ascending variability of foot placement was observed for both groups, followed by a descending one in the late phase of the approach. The parameters associated with the onset of visual control for IIJ were found to be not statistically significantly different to those of NIJ. The mean maximum toe-board distance variability was 0.38 m and 0.27 m for IIJ and NIJ, respectively. The onset of regulation commenced at the fifth- and third-to-last step for IIJ and NIJ, respectively. The finding that IIJ adjust the last steps of the run-up with sufficient accuracy suggests the presence of visual control. This information can be used to optimize long jump approach run training for athletes with II. [ABSTRACT FROM AUTHOR]

Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL. Results: Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected. Conclusions: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency.

Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum. CVID-associated non-infectious morbidity constitutes a major challenge requiring a full understanding of its pathophysiology and its clinical importance and global variability, especially considering the broad clinical, genetic, and regional heterogeneity of CVID disorders. This work aimed to develop a nationwide, multicenter, retrospective study over a 3-year period describing epidemiological, clinical, laboratory, therapeutic, and prognostic features of 250 CVID patients in Spain. The mean diagnostic delay was around 10 years and most patients initially presented with infectious complications followed by non-infectious immune disorders. However, infectious diseases were not the main cause of morbimortality. Non-infectious lung disease was extraordinarily frequent in our registry affecting approximately 60% of the patients. More than one-third of the patients in our cohort showed lymphadenopathies and splenomegaly in their follow-up, and more than 33% presented immune cytopenias, especially Evans’ syndrome. Gastrointestinal disease was observed in more than 40% of the patients. Among biopsied organs in our cohort, benign lymphoproliferation was the principal histopathological alteration. Reaching 15.26%, the global prevalence of cancer in our registry was one of the highest reported to date, with non-Hodgkin B lymphoma being the most frequent. These data emphasize the importance of basic and translational research delving into the pathophysiological pathways involved in immune dysregulation and diffuse lymphocytic infiltration. This would reveal new tailored strategies to reduce immune complications, and the associated healthcare burden, and ensure a better quality of life for CVID patients.

Neurofibromatosis type 1 (NF1) is one of the central nervous system’s most common autosomal dominant conditions. The diagnosis is based on the clinical diagnostic criteria and/or a molecularly confirmed mutation in the NF1 gene. This study investigated the possibility of substantiating choroidal nodules as a diagnostic criterion for the disease, including patients affected with and without high myopia. A cross-sectional study was carried out in 60 eyes of 30 adult patients diagnosed with NF1. A total of 30 healthy individuals of equivalent age and sex served as control. The Spectralis HRA+OCT MultiColor (Heidelberg Engineering GmbH, Heidelberg, Germany) evaluated the presence of choroidal abnormalities with near-infrared reflectance imaging. Secondly, the presence of iridian Lisch nodules was evaluated by slit lamp examination. Near-infrared reflectance imaging showed the presence of choroidal hyperreflective nodules in 83% of the patients diagnosed with NF1, while these choroidal abnormalities were not observed in any control subject. The patients diagnosed with NF1 associated with high myopia were the only ones who did not present the characteristic choroidal disorders. Therefore, when excluding patients diagnosed with high myopia, choroidal nodules were more frequent than Lisch nodules in a statistically significant proportion. Hyperreflective nodules detected by near-infrared reflectance imaging are as regular as Lisch nodules or even significantly more frequent when excluding high myope patients. Our observation of the mutual exclusion of choroidal hyperreflective nodules and high myopia in the NF1 patients seems a novel and interesting remark.

Objetivo: El objetivo del presente estudio fue investigar sobre las capacidades que desarrollan las personas con parálisis cerebral mediante un estudio de la actividad que realizan en el salto de longitud paralímpico. Método: Analizamos a 20 atletas finalistas en los Juegos Paralímpicos de Londres en salto de longitud de la categoría F36 y F37/38. La recolección de datos se realizó a través de 4 cámaras de alta velocidad, a una frecuencia de 300 Hz, siendo las variables analizadas en los últimos tres pasos de la carrera de aproximación: velocidad de paso, frecuencia de paso, longitud de paso, tiempo de contacto, tiempo de vuelo, y la duración de la batida. Resultados: Se ha observa que no hay una perdida de velocidad en el ultimo paso anterior a la tabla de batida, lo que contrasta con los deportistas sin discapacidad. Se detecta diferencias significativas entre los atletas F36 y F37/38 en los tiempos de contacto de los tres últimos pasos, con excepción del tiempo de batida (TC0). Conclusión: El nivel de discapacidad tiene que ver con el rendimiento deportivo, mostrando datos inferiores en la carrera de aproximación a la batida, de acuerdo con el nivel de discapacidad y categoría del atleta, pero realizando un patrón similar a los atletas sin discapacidad.

Objective:Pneumocystis colonization is frequent in patients with chronic obstructive pulmonary disease (COPD) producing local and systemic inflammation. Heart failure is also a common comorbidity among patients with COPD. Heart failure is a chronic, frequent, and disabling condition with high morbidity and mortality, but with a modifiable course where endothelial dysfunction and pulmonary arterial hypertension have great importance. Animal models have shown that Pneumocystis infection can cause relevant functionally changes in vascular responses in the lung, promoting the development of pulmonary hypertension. Pneumocystis colonization could be a hidden cause of worsening heart failure through it capacity to induce inflammatory response with subsequent endothelial dysfunction and pulmonary hypertension. The aim of the present study was to investigate the prevalence of Pneumocystis jirovecii colonization in heart failure patients and its possible association with reduced or preserved ejection fraction.Methods: A cross-sectional study was carried out including 36 heart failure patients and 36 control cases. Identification of P. jirovecii colonization was performed by means of molecular techniques in oropharyngeal washing.Results:Pneumocystis-DNA was identified in oropharyngeal washing in 1 (2.7%) of 36 heart failure patients and in 3 (8.3%) of 36 controls.Conclusions:Pneumocystis colonization does not seem to have a role in the pathophysiology of heart failure.

This study examines the motivation for practice of sport of people with disabilities that form part to a federated sport.The sample was composed of 134 athletes of both genders and different disabilities.The “Participation Motivation Inventory Questionnaire” by Gill, Gross and Huddleston was used. The instrument was adapted to Paralympic sport and describes the main reasons that encourage the sports activity practice. The results haven´t found significant difference between men´s and women´s or between blind - visually impaired physical and motor disabilities. About the motivation of the practice of sport, worth highlighting the importance given to factors of fitness and health, like sport practice, improve the level, to compete, feel good and have fun, well above being popular, influenced by coaches or satisfy to parents.

Los Juegos Paralímpicos de Londres 2012 han sido excelentes, sin duda los mejores juegos de la historia, pero si por algo se han caracterizado ha sido por el nivel de inclusión desarrollado. Siguiendo el modelo de los Juegos Olímpicos, los organizadores han dado rienda suelta a todos los valores que posee el pueblo británico y, como fundadores del movimiento paralímpico en Stoke Mandeville por el Dr. Guttmann, han sabido conjugar el espectáculo deportivo con la difusión de las capacidades de los deportistas discapacitados. Las proezas de los deportistas paralímpicos han transmitido a toda la sociedad, a través de los medios de comunicación, los valores que tan magníficamente encarnan. La participación ha sido numerosa, 166 países y mas de 4.000 atletas, lo que convierte estos Juegos en la segunda manifestación deportiva de la Tierra. España representa una de las potencias del movimiento Paralímpico, estando presente en los primeros puestos del medallero y siendo punteros en la difusión de modelos educativos y participando en las investigaciones auspiciadas por el Comité Paralímpico Internacional.

La inclusión de las personas con discapacidad en todas las facetas de la vida en sociedad es una constante en nuestros días. En muchos países del mundo, se han aplicado nuevas leyes con el fin de ofrecer igualdad de oportunidades y plena participación en la vida social a todos los miembros de la sociedad, poniendo especial énfasis en la situación de las personas con discapacidad. La práctica deportiva es un espacio muy rico, en donde se pueden trabajar los valores, no como una simple transmisión de estos, sino que facilitando unas condiciones en las que los deportistas construyan su propia jerarquía de valores, de tal manera que exista un equilibrio entre las necesidades de ámbito personal y las sociales. Así en el deporte adaptado podemos trabajar valores como el respeto a la autonomía personal, mediante una aceptación de uno mismo, mejora del bienestar y de la salud corporal, mejora de las relaciones personales; u otros más utilitarios como la ocupación del tiempo libre, la dedicación y la valoración del esfuerzo; o de tipo moral como la cooperación y el respeto a las normas. En esta comunicación trataremos de dar un sentido integrador al deporte paralímpico, proponiendo un modelo ecológico para el desarrollo y promoción de valores sociales y personales a través del deporte, en el que se contemplen todos los estamentos susceptibles de ejercer algún tipo de influencia sobre la formación del esquema de valores de cada persona. Por ello presentamos el trabajo de investigación realizado con deportistas paralímpicos, en el que la muestra objeto de este estudio está compuesta por 118 deportistas, de diferentes discapacidades y representativa de veinte países de los cinco continentes. Los datos obtenidos en esta investigación fueron recogidos a través de un cuestionario en tres ámbitos: el personal, social y el deportivo, y que daban como resultados mas significativos: Desde la perspectiva de lo estrictamente personal, se aprecian valoraciones muy positivas, por parte de la mayoría de los deportistas encuestados, si bien se produce una excepción cuando se valoran, desde la práctica deportiva, los beneficios relacionados con la mejora de la situación profesional, a nivel de estudios y/o trabajo, ya que en ese momento se observa que la tendencia generalizada es negativa. Sobre los valores que representa el deporte adaptado a nivel de bienestar y salud corporal, el 88.1% valoran como normal y/o positiva la práctica deportiva En la ocupación del tiempo de ocio, el 63.3 % destacan el beneficio del deporte en cuanto les supone una interesante manera de ocupar el tiempo libre. Sobre el valor que supone la aceptación de uno mismo y la influencia que haya podido tener el deporte en ésta, un 42.7 % lo consideran decisivo. Referente a la pregunta “si te has sentido discriminado por tu discapacidad”, es interesante la respuesta de los deportistas ya que un 59.9% consideran que no y tan solo un 21,8% responden afirmativamente. Otro dato a destacar es que las diferencias por sexos, parecen poco importantes.