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Prognosis of myasthenia gravis (MG) in patients with thymoma is not well established. Moreover, it is not clear whether thymoma recurrence or unresectable lesions entail a worse prognosis of MG.

Background Late-onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme acid alpha-glucosidase. Enzymatic replacement therapy with recombinant human alpha-glucosidase seems to reduce the progression of the disease; although at the moment, it is not completely clear to what extent. Quantitative muscle magnetic resonance imaging (qMRI) is a good biomarker for the follow-up of fat replacement in neuromuscular disorders. The aim of this study was to describe the changes observed in fat replacement in skeletal muscles using qMRI in a cohort of LOPD patients followed prospectively. Methods A total of 36 LOPD patients were seen once every year for 4 years. qMRI, several muscle function tests, spirometry, activities of daily living scales, and quality-of-life scales were performed on each visit. Muscle MRI consisted of two-point Dixon studies of the trunk and thigh muscles. Computer analysis of the images provided the percentage of muscle degenerated and replaced by fat in every muscle (known as fat fraction). Longitudinal analysis of the measures was performed using linear mixed models applying the Greenhouse-Geisser test. Results We detected a statistically significant and continuous increase in mean thigh fat fraction both in treated (+5.8% in 3 years) and in pre-symptomatic patients (+2.6% in 3years) (Greenhouse-Geisser p < 0.05). As an average, fat fraction increased by 1.9% per year in treated patients, compared with 0.8% in pre-symptomatic patients. Fat fraction significantly increased in every muscle of the thighs. We observed a significant correlation between changes observed in fat fraction in qMRI and changes observed in the results of the muscle function tests performed. Moreover, we identified that muscle performance and mean thigh fat fraction at baseline visit were independent parameters influencing fat fraction progression over 4 years (analysis of covariance, p < 0.05). Conclusions Our study identifies that skeletal muscle fat fraction continues to increase in patients with LOPD despite the treatment with enzymatic replacement therapy. These results suggest that the process of muscle degeneration is not stopped by the treatment and could impact muscle function over the years. Hereby, we show that fat fraction along with muscle function tests can be considered a good outcome measures for clinical trials in LOPD patients.

Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real-Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov). Results We identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR-1-3p, miR-133a-3p, and miR-206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found. Interpretation Serum expression levels of dystromirs may represent additional biomarkers for the follow-up of AOPD patients.

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY license Background Continuous electronic fetal heart-rate monitoring is widely used during labour, and computerised interpretation could increase its usefulness. We aimed to establish whether the addition of decision-support software to assist in the interpretation of cardiotocographs affected the number of poor neonatal outcomes. Methods In this unmasked randomised controlled trial, we recruited women in labour aged 16 years or older having continuous electronic fetal monitoring, with a singleton or twin pregnancy, and at 35 weeks' gestation or more at 24 maternity units in the UK and Ireland. They were randomly assigned (1:1) to decision support with the INFANT system or no decision support via a computer-generated stratified block randomisation schedule. The primary outcomes were poor neonatal outcome (intrapartum stillbirth or early neonatal death excluding lethal congenital anomalies, or neonatal encephalopathy, admission to the neonatal unit within 24 h for ≥48 h with evidence of feeding difficulties, respiratory illness, or encephalopathy with evidence of compromise at birth), and developmental assessment at age 2 years in a subset of surviving children. Analyses were done by intention to treat. This trial is completed and is registered with the ISRCTN Registry, number 98680152. Findings Between Jan 6, 2010, and Aug 31, 2013, 47 062 women were randomly assigned (23 515 in the decision-support group and 23 547 in the no-decision-support group) and 46 042 were analysed (22 987 in the decision-support group and 23 055 in the no-decision-support group). We noted no difference in the incidence of poor neonatal outcome between the groups—172 (0·7%) babies in the decision-support group compared with 171 (0·7%) babies in the no-decision-support group (adjusted risk ratio 1·01, 95% CI 0·82–1·25). At 2 years, no significant differences were noted in terms of developmental assessment. Interpretation Use of computerised interpretation of cardiotocographs in women who have continuous electronic fetal monitoring in labour does not improve clinical outcomes for mothers or babies. Funding National Institute for Health Research.

Se aplicó una metodología para evaluar y clasifi car tierras en áreas montañosas con fi nes de conservación de suelos, a partir del índice de productividad (IP) e índice de riesgo de erosión (IRE). El área de estudio comprende parcelas de Los Caracoles (1,05 ha) y El Rincón del Picacho (5,95 ha), subcuenca Alto Motatán, estado Mérida, Venezuela. Se determinó la aptitud de la tierra, clases de tierras y requerimientos de conservación de suelos. El Rincón del Picacho mostró mejor aptitud para la productividad del suelo en comparación con Los Caracoles, para ambos el IRE resultó con una moderada aptitud. Las parcelas clasifi can como tierras en reserva (principalmente en Los Caracoles) y en condición subcrítica (mayormente en El Rincón del Picacho). Se recomienda utilizar prácticas de conservación de suelos, combinando prácticas intensivas de manejo, manejo de coberturas vegetales y prácticas moderadas de control de escurrimiento en laderas. A methodology to evaluate and classify land in mountain areas for the purpose of soil conservation, based on the soil productivity index (IP) and soil erosion risk (IRE) were applied. The study area includes plots of Los Caracoles (1.05 has) and El Rincón del Picacho (5,95 has), Alto Motatán subbasin, Mérida State, Venezuela. Land suitability and classes and soil conservation requirements were determined. El Rincón del Picacho soils showed better aptitude soil productivity in comparison with Los Caracoles, for both the IRE was a moderate aptitude. The plots are classifi ed as lands in reserve (mainly in Los Caracoles) and in sub-critical condition (mostly in El Rincón del Picacho). The utilization of practices for soil conservation, combining intensive practices of management, management of vegetable cover and moderate practices of control of runoff mountainside are recommended. 329-342 pineida@ula.ve jhonkg@cantv.net gon4530@hotmail.com jaimes@ula.ve jgmendoz@ula.ve mandoni500@hotmail.com Trimestral

Introducción: El SAHOS presenta una alta prevalencia en estudios internacionales, con importantes repercusiones en los sistemas cardio, cerebrovascular y en la calidad de vida de las personas. Método: Estudiamos prospectivamente a los pacientes enviados para Polisomnografia (PSG) a nuestro laboratorio de sueño, en un período de 6 meses. Previo consentimiento informado, se les aplicó la Escala de Somnolencia de Epworth (EE) y un Cuestionario de Sueño. Fueron entrevistados 100 pacientes, excluyéndose 3 por no haberse realizado PSG y 2 que no completaron la EE. Resultados: Se analizaron 95 pacientes, 89,5% hombres, edad promedio 47,4± 12,5 años, obesidad en 49,5%, EE mayor de 11 en 56,8%, ronquido en 93,7%, pausas respiratorias en 68,4%, somnolencia diurna excesiva en 57,9%, cansancio al despertar en 86,3%o. La PSG no demostró SAHOS en 14,7%, hubo 27,4% con SAHOS leve, 21 %> moderado y 36,8%> severo. Las variables presencia de pausas respiratorias observadas por la pareja e índice de masa corporal (IMC) predicen la ausencia de SAHOS severo, con una sensibilidad de 87% y especificidad de 50%. Conclusión: En la evaluación de pacientes con sospecha de SAHOS, la no observación de pausas respiratorias durante el sueño por parte de la pareja y el IMC menor de 30 Kg/m² hacen menos probable que exista un SAHOS severo. Introduction: Obstructive sleep apnea syndrome (OSAS) is a common disease associated with significant morbidity, including excessive daytime sleepiness, cardiovascular disease and stroke. Method: We studied prospectively the patients sent to our sleep laboratory for polysomnography (PSG) during 6 months. One-hundred patients were interviewed with a sleep questionnaire, 3 of them were ruled out because the lacking of PSG and 2 who no completed the Epworth sleep scale (ESS). Results: Out of the 95 patients, there were 85 men and 10 women, with a mean age of 47.4 ± 12.5 years, obesity was found in 42.5%, an ESS greater than 11 points was found in 56.8%, loud snoring in 93.7%, breathing cessation in 68.4%, excessive daytime somnolence in 57.9%. PSG revealed no OSAS in 14.7%, slight OSAS in 27.4%, moderate OSAS in 21% y severe OSAS in 36.8%. Body mass index and breathing cessation reported by the couple had the highest discriminative power with a sensibility of 87% and specificity of 50% for ruled out severe OSAS. Conclusion: A severe OSAS is less probable when there is absence of breathing cessation during sleep reported by the couple and an IMC

Introduccion: El SAHOS presenta una alta prevalencia en estudios internacionales, con importantes repercusiones en los sistemas cardio, cerebrovascular y en la calidad de vida de las personas. Metodo: Estudiamos prospectivamente a los pacientes enviados para Polisomnografia (PSG) a nuestro laboratorio de sueno, en un periodo de 6 meses. Previo consentimiento informado, se les aplico la Escala de Somnolencia de Epworth (EE) y un Cuestionario de Sueno. Fueron entrevistados 100 pacientes, excluyendose 3 por no haberse realizado PSG y 2 que no completaron la EE. Resultados: Se analizaron 95 pacientes, 89,5% hombres, edad promedio 47,4± 12,5 anos, obesidad en 49,5%, EE mayor de 11 en 56,8%, ronquido en 93,7%, pausas respiratorias en 68,4%, somnolencia diurna excesiva en 57,9%, cansancio al despertar en 86,3%o. La PSG no demostro SAHOS en 14,7%, hubo 27,4% con SAHOS leve, 21 %> moderado y 36,8%> severo. Las variables presencia de pausas respiratorias observadas por la pareja e indice de masa corporal (IMC) predicen la ausencia de SAHOS severo, con una sensibilidad de 87% y especificidad de 50%. Conclusion: En la evaluacion de pacientes con sospecha de SAHOS, la no observacion de pausas respiratorias durante el sueno por parte de la pareja y el IMC menor de 30 Kg/m2 hacen menos probable que exista un SAHOS severo.

El síndrome de Sturge Weber es un trastorno neurocutáneo infrecuente, caracterizado por la asociación de un angioma venoso de la piamadre con un nevus rojo-vinoso en la cara. La afectación bilateral del nevus no es infrecuente, habiéndose observado en el 30% de los pacientes; sólo el 25% de los mismos muestran angiomatosis leptomeníngea bilateral. Las crisis parciales son generalmente la primera manifestación neurológica y se inician habitualmente en los primeros meses de vida. La TAC craneal puede revelar las calcif!caciones intracraneales características, aunque rara vez están presentes al nacimiento. Presentamos un caso de Sturge Weber con crisis de inicio precoz, nevus facial y calcificaciones intracraneales bilaterales presentes en el periodo neonatal.

The most successful therapy for acute liver failure is liver transplantation. However, due to the low number of donors, organ support therapies need to be used as a bridge to liver transplantation. Molecular Adsorbents Recirculating System (MARS) is a dialysis treatment that uses a recirculating dialysate containing albumin. This allows the removal of both hydrosoluble and albumin-related substances. This system improves hepatic encephalopathy, renal dysfunction and some clinical parameters in acute liver failure, but there is no clear decrease in mortality. We report three women aged 23, 21 and 61 years, that were subjected to liver transplantation, in whom this therapy was successfully used (Rev Méd Chile 2004; 132: 601-7).