New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I.

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.

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 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.

Estudio cinemático de la carrera de 100 m en atletas con discapacidad / Kinematic study of 100 m race in athletes with disability / Estudo cinematográfico da carreira de 100m em atletas com deficiencia

En este trabajo se ha pretendido analizar las diferencias que se observan en las carreras de velocidad realizadas por atletas paralímpicos clasificados en diferentes categorías. La muestra del estudio consistió en 133 carreras de 100 metros efectuadas por atletas en las fases semifinales y finales del Campeonato Europeo de Atletismo del Comité Paralímpico Internacional en Swansea (Wales, UK) 2014, donde participaron 24 países. Se valoraron las variables temporales marca (s) y tiempo medio de paso (s), las variables espaciales número de pasos y amplitud media de paso (m), y las variables espacio temporal velocidad media (m/s) y frecuencia media (Hz). Se hizo un estudio comparativo entre las diferentes categorías y género. Los datos se recogieron de las grabaciones disponibles en la web del campeonato y fueron tratados con el paquete estadístico SPSS (V.22.0). Entre los resultados hay que destacar la importancia que tienen la amplitud de paso y la frecuencia media.

The present study sought to identify the differences observed in sprint races conducted by Paralympic athletes classified in different categories. The study sample consisted of 133 runs of 100 m sprint race conducted by athletes in the semifinal and final stages of the 2014 International Paralympic Committee Athletics European Championships, in Swansea (Wales, UK), where 24 countries participated. The temporal variables mark (s) and average step time (s), the spatial variables number of steps and average step length (m), and the temporal space variables average speed (m/s) and average frequency (Hz) were assessed. A comparative study between the different categories and gender has been carried out. The data was collected from the recordings available on the championship website was processed with the SPSS statistical package (V.22.0). Among the results, it is necessary to emphasize the importance of the step length and the average frequency.

O presente estudo buscou identificar as diferenças que se observam nas corridas de velocidade realizadas pelos atletas paralímpicos de diferentes categorias. A amostra do estudo consistiu-se em 133 provas de 100 metros realizadas por atletas nas fases semifinal e final do Campeonato Europeu de Atletismo do Comitê Paralímpico Internacional em Swansea (Wales, Reino Unido) 2014, onde participaram 24 países. Foram analisadas as variáveis temporais marca (s) e tempo médio do passo (s), as variáveis espaciais número de passos e amplitude média do passo (m) e as variáveis espaço temporal velocidade média (m/s) e frequência média (Hz). Realizou-se um estudo comparativo entre as diferentes categorias, com distinção de gênero. Para o estudo foram utilizadas as gravações disponíveis na página web do campeonato e os dados foram tratados com o pacote estatístico SPSS (V.22.0). Entre os resultados encontrados se destacam a importância que tem a amplitude do passo e a frequência média.

Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.

BACKGROUND: The presence of white mater lesions in the central nervous system forces the differential diagnosis between multiple sclerosis (MS) and Anderson-Fabry disease (FD). Due to the type of inheritance, linked to the X chromosome, the diagnosis of FD is especially difficult in women. Tissue´s deposits of globotriaosylceramide (Gb3) are characteristics for FD and the deacylated form of Gb3 (Globotriaosylsphingosine or LysoGb3) is specific for this entity. Our objective is to investigate if concentrations of plasma Lyso-Gb3 are useful for ruling out the FD in a Spanish cohort of patients with a previous diagnosis of MS. METHODS: we evaluated the α-galactosidase A enzymatic activity in 154 patients with a previous diagnosis of MS (93 women and 61 men): 103 Relapsing Remitting MS patients, 19 progressive MS patients and 32 with the clinically isolated syndrome. 116 (75% of the patients) were on MS disease modifying therapy. Enzymatic assay was completed in all cases and done on dried blood spot (DBS) samples. Subsequently the GLA gene was sequenced only in males and females who presented an enzymatic assay significantly lower than standardized controls (<50% for men and <75% for women). For subjects with GLA variants, plasma Lyso-Gb3 levels were performed by Tandem mass spectrometry from DBS, assuming a cut-off point for normality <3.5 ng/mL. RESULTS: Genetic study was carried out in 30 women and 7 men; 8 of them had non-previous described GLA variants. After a thorough clinical examination no organic disease was found in any of the classical target organs. The study of Lyso-Gb3 concentrations in DBS was lower than 3.5 ng/mL, allowing us to discharge FD in all subjects and to consider these GLA variants like non pathologic. CONCLUSIONS: Lyso-Gb3 concentration in DBS is a useful tool to rule out Fabry disease in patients with MS. A concentration of LysoGb3 < 3.5 ng/mL rules out FD.

Pneumocystis jirovecii in Spanish Patients With Heart Failure.

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.

Spatiotemporal characteristics of motor actions by blind long jump athletes.

BACKGROUND: Blind people depend on spatial and temporal representations to perform activities of daily living and compete in sport. OBJECTIVE: The aim of this study is to determine the spatiotemporal characteristics of long jumps performed by blind athletes and compare findings with those reported for sighted athletes. METHODS: We analysed a sample of 12 male athletes competing in the F11 Long Jump Finals at the Paralympic Games in London 2012. Performances were recorded using four high-speed cameras, and speeds were measured using a radar speed gun. The images were processed using validated image analysis software. RESULTS: The long jump run-up is shorter in blind athletes than in sighted athletes. We observed statistically significant differences for body centre of mass velocity and an increase in speed over the last three strides prior to take-off, contrasting with reports for sighted athletes and athletes with less severe visual impairment, who maintain or reduce their speed during the last stride. Stride length for the last three strides was the only spatial characteristic that was not significantly associated with effective jump distance. Blind long jumpers extend rather than shorten their last stride. Contact time with the take-off board is longer than that reported for sighted athletes. CONCLUSION: The actions of blind long jumpers, unlike those without disabilities, do not vary their leg actions during the final runway approach for optimal placement on the take-off board.

Control fisiológico para valorar las capacidades y características de deportistas con discapacidad visual / Physiological measurements used to evaluate the capacities and characteristics of visually impaired athletes

Introducción: En el presente trabajo se analizan las diferentes baterías de pruebas fisiológicas realizadas a deportistas ciegos y con discapacidad visual de la población adulta de Cataluña con el objeto de definir las capacidades de estas personas y relacionarlas con datos de otros deportistas. La muestra la componen 37 atletas con discapacidad visual (23 hombres y 14 mujeres), representantes de 6 modalidades deportivas y de una media de edad de 27,19 ± 7,9 años. La recogida de datos se realizó en la Unitat d’Esport i Salut de la Secretaria General de l’Esport de la Generalitat de Catalunya. Resultados: Se destaca la diferencia significativa entre hombres y mujeres del IMC (p < 0,05), que se corrobora con el valor del porcentaje de masa muscular esquelética, donde se encontró diferencia altamente significativa en favor de las mujeres. Otros datos que presentan diferencia altamente significativa a favor de los hombres son el VO2max, VO2uan, VO2max/kg, VEmax y el VEuan. Al analizar los otros datos, de acuerdo con el nivel de género, discapacidad y deporte, se encontraron solamente diferencias significativas en hombres en las variables FCuan y FCmax. Conclusiones: Los deportistas de este estudio presentan datos antropométricos similares a otros deportistas, normalidad en cuanto al IMC, si bien deben orientarse a un predominio mesomórfico del somatotipo. Los deportistas que padecen ceguera (B1) presentan valores más bajos que los deficientes visuales (B2), lo que se debe tener en cuenta a la hora de planificar el entrenamiento y sus objetivos

Introduction: The present study has analyzed different batteries of tests used for physiological assessment of blind and visually impaired athletes of the population from Catalonia. The main purpose was to define their capacities and associate them with information of other athletes. The sample consisted of 37 visually impaired athletes (23 men and 14 women), as representatives of six sports modes, with a mean age of 27.19 ± 7.9 years. The data collection was carried out in the Unit of Sports and Health of the General Secretary of Sports Government of Catalonia. Results: A significant difference was noted between men and women in relation to BMI (P < .05), that corroborates with the percentage value of musculoskeletal mass, with a highly significant difference in favor of women. Other scientific data that shows highly relevant differences in favor of men are VO2max, VO2at, VO2max/kg, VEmax and the VEat. While analyzing other information, according to the level and gender, disability and sports, the only differences found were between men in connection with heart rate and maximum heart rate (HRat and HRmax). Conclusion: The athletes in this this study show similar anthropometric data to other athletes, normal as regards BMI, but it needs to be oriented towards a predominance of mesomorph somatotype. Athletes who are blind (B1) have lower values than the visually impaired (B2), that must be taken into account when planning training and goals

Validez de las escalas de Finey CURB en el tratamiento de las neumonías de adquisición comunitaria en adultos / Validity of Fine and CURB scales in the treatment of community acquired pneumonia in adults

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Tratamiento de las neumonías de adquisición comunitaria en adultos: ¿ertapenem o cefditorén? / Treatment of community-acquired pneumonia in adults: er-tapenem versus cefditoren?

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