BackgroundFabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme α-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression.MethodsA combined enzymatic and genetic strategy was used, measuring the activity of α-galactosidase A and genotyping the α-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain.ResultsGLA alterations were found in seven unrelated patients (4 males and 3 females). Two novel mutations (p.Gly346AlafsX347 and p.Val199GlyfsX203) were identified as well as a previously described mutation, R118C. The R118C mutation was present in 60% of unrelated patients with GLA causal mutations. The D313Y alteration, considered by some authors as a pseudo-deficiency allele, was also found in two out of seven patients.ConclusionsExcluding the controversial D313Y alteration, FD presents a frequency of one in 182 individuals (0.55%) within this population of males and females undergoing haemodialysis. Moreover, our findings suggest that a number of patients with unexplained and atypical symptoms of renal disease may have FD. Screening programmes for FD in populations of individuals presenting severe kidney dysfunction, cardiac alterations or cerebrovascular disease may lead to the diagnosis of FD in those patients, the study of their families and eventually the implementation of a specific therapy.

Background: The influence of a dialysis session using hemodiafiltration with on-line regeneration of the ultrafiltrate (HFR) is compared with that of a conventional hemodialysis session with polysulfone (HD-PS) and with a group of healthy individuals. Methods: Total antioxidant capacity (TAC), antioxidants, i.e., superoxide dismutase (SOD) glutathione peroxidase (GPX), reduced glutathione (GSH) and catalase, and biomarkers of oxidative stress were evaluated in plasma, whole blood and lymphocytes. Results: The study showed decreased plasma TAC, decreased activities of antioxidant enzymes and decreased GSH levels along with increased thiobarbituric-acid-reactive substances and 8–hydroxy-2-deoxyguanosine (8-OHdG) levels in lymphocytes. The antioxidants and biomarkers of lipid and protein damage after dialysis sessions with HFR were similar or better than following HD-PS. Thus, the blood GPX activity was comparable to that of healthy controls and significantly better than following HD-PS. An increase in 8-OHdG levels was observed in the HD-PS group after dialysis but not in the HFR group. Conclusions: These results show that HFR induces less oxidative stress than HD-PS.

In the last few years haemodiafiltration with on-line regeneration of ultrafiltrate (HFR) has been shown to have a positive impact on inflammation and oxidative stress biomarkers, but its effect on antioxidant levels and on oxidative damage to biomolecules in the long-term is still unknown. This is a randomised clinical study over 12 months involving 40 patients on haemodialysis, comparing the effect of HFR (n=25) dialysis with haemodialysis with polysulfone (HD-PS, n=15) on oxidative stress. Total antioxidant capacity, enzymatic antioxidant [superoxide dismutase (SOD), catalase and glutathione peroxidase], non-enzymatic (GSH) and biomarkers of oxidative stress (TBARs, carbonyl groups and 8-OH-dG) were evaluated. The antioxidant activity decreased in the lymphocytes of patients dialysed with HFR, with a significant decrease in the enzyme SOD. In the oxidative stress biomarkers, an increase was seen in the levels of 8-OH-dG in patients on HD-PS dialysis but not in those treated with HFR. Throughout the year the changes in antioxidant levels and biomarkers of oxidative damage in patients dialysed with HFR were generally more modest and fluctuated less than those dialysed with HD-PS. Our study indicates that, in general, long-term dialysis with HFR does not modified antioxidant parameters or increases the oxidative damage to biomolecules. The HFR showed to be a biocompatible technique for long-term dialysis.

BackgroundUniNet is an Internet-based thematic network for a virtual community of users (VCU). It supports a virtual multidisciplinary community for physicians, focused on the improvement of clinical practice. This is a study of the effects of a thematic network such as UniNet on primary care medicine in a rural area, specifically as a platform of communication between specialists at the hospital and doctors in the rural area.MethodsIn order to study the effects of a thematic network such as UniNet on primary care medicine in a rural area, we designed an interventional study that included a control group. The measurements included the number of patient displacements due to disease, number of patient hospital stays and the number of prescriptions of drugs of low therapeutic utility and generic drug prescriptions by doctors. These data were analysed and compared with those of the control center.ResultsOur study showed positive changes in medical practice, reflected in the improvement of the evaluated parameters in the rural health area where the interventional study was carried out, compared with the control area. We discuss the strengths and weaknesses of UniNet as a potential medium to improve the quality of medical care in rural areas.ConclusionThe rural doctors had an effective, useful, user-friendly and cheap source of medical information that may have contributed to the improvement observed in the medical quality indices.

Objective: To evaluate the strength of respiratory muscles and to compare maximum inspiratory (MIP) and expiratory (MEP) pressure and MEP/MIP ratio between patients with chronic respiratory diseases and healthy individuals. Methods: Case-control study. Individuals with neuromuscular disease and post-infectious bronchiolitis obliterans were considered. In addition, they were also matched according to anthropometric and demographic characteristics with healthy children and adolescents. MIP, MEP in the three groups, and pulmonary function only in patients with chronic respiratory diseases were recorded. Results: A total of 52 subjects with CRD (25 with neuromuscular disease, and 27 with post-infectious bronchiolitis obliterans) and 85 healthy individuals were included, with an average age of 11.3±2.1 years. Patients with neuromuscular disease and post-infectious bronchiolitis obliterans presented lower MIP and MEP when compared with healthy individuals, although MEP/MIP ratio was lower in patients with neuromuscular disease (0.87±0.3) and higher in patients with post-infectious bronchiolitis obliterans (1.1±0.3) compared to the healthy group (0.97±0.2). Only in patients with neuromuscular disease a negative correlation was observed between MEP/MIP ratio and age (r=-0.50; p=0.01). Conclusions: Differences in the pattern of muscular weakness between patients with chronic respiratory diseases were observed. In patients with neuromuscular disease, a decrease in the MEP/MIP ratio depending on MIP was verified; and in those patients with post-infectious bronchiolitis obliterans, an increase in the MEP/MIP ratio depending on MIP was also observed.

El diagnóstico precoz de los Trastornos Respiratorios del Sueño (TRS) puede permitir una intervención oportuna. La poligrafía (PG) es una alternativa confiable y accesible en la actualidad.Objetivo: Describir y analizar PG de niños ≥ 1 año con sospecha de TRS.Pacientes y Método: Se incluyeron PG de niños y adolescentes ≥ 1 año de edad con sospecha de TRS, desde diciembre de 2011 hasta agosto de 2017 provenientes de la ciudad de Concepcion, Chile. Se recopilaron datos demográficos, clínicos y variables poligráficas. Estadística descriptiva, expresando resultados en mediana y rango. Se determinó asociación entre índice de apnea hipopnea (IAH) y saturación mediante Rho de Spearman; considerando significancia p < 0,05.Resultados: Se analizaron 190 estudios. Edad 7,9 años (1,0-20,6), varones 61%. Diagnósticos: enfermedades neuromusculares (ENM) (24,2%), daño pulmonar crónico (21,1%), obstrucción de vía aérea superior (OVAS) (19,5%), daño neurológico (11%), síndrome de Down (8,9%) malformaciones VAS (7,4%), hipoventilación central (3,7%), obesidad (2,6%) y otros (1,6%). El 55,3% de las PG resultaron alteradas; síndrome de apnea hipopnea obstructiva del sueño (SAHOS) leve en 53,3%, moderado 30,5% y severo 16,2%. No se observaron diferencias significativas en IAH entre grupos de patologías (p = 0,032), destacando un mayor IAH en Obesidad 9,0 (0,41-51) y ENM 23,9 (0,4-36,6). Se constató asociación entre IAH y parámetros de saturación; saturación promedio (rho = -0,425; p = 0,001); mínima (rho = -0,654; p = 0,001); y saturación bajo 90% (rho = 0,323; p = 0,001) en la totalidad de la muestra.Discusión: Existió un alto porcentaje de SAHOS en pacientes pediátricos de riesgo, en especial en aquellos con ENM y obesidad. La PG es una herramienta accesible e implementable en un hospital público; situación potencialmente extrapolable a otros centros asistenciales.

Introduction. Pediatric pulmonary rehabilitation is relevant in the management of chronic respiratory diseases. In Chile, it is provided only at certain hospitals. Objective. To describe the outcomes of a pediatric pulmonary rehabilitation program after 3 months of rehabilitation. Methodology. Retrospective study of patients with chronic lung disease, neuromuscular disease, and other chronic conditions admitted to the program between June 2011 and June 2017. Assessments included general physical and respiratory muscle examination, and spirometry. General physical training and respiratory muscle training were planned according to facilitybased, mixed and home protocols.Results. A total of 156 patients (11.45 ± 3.55 years old) were included, 68 had chronic lung disease (11.56 ± 4.6 years old, 43.5 %); 45, neuromuscular disease (11.4 ± 3.7 years old, 28.8 %); and 43, various chronic conditions (11.31 ± 3.9 years old). Out of all patients, 102 (65.4 %) followed training protocols; targeted (n = 27), mixed (n = 23), and home (n = 50); compliance was 69 %, 87.5 %, and 70 %, respectively. Peak inspiratory pressure increased by 19.3 % (p = 0.001); peak expiratory pressure, 14.5 % (p = 0.001); forced vital capacity, 12.9 % (p = 0.001); forced expiratory volume in 1 second, 11.6 % (p = 0.004); and the six-minute walk test, 17.6 meters (p = 0.036) after 3 months of rehabilitation. Conclusions. The intervention protocol improved cardiorespiratory functional capacity. Compliance was over 65 %.

RESUMEN Introducción. La rehabilitación respiratoria infantil es relevante en el manejo de enfermedades respiratorias crónicas. En Chile, se desarrolla solo en algunos hospitales. Objetivo. Describir los resultados de un programa de rehabilitación respiratoria infantil tras 3 meses de rehabilitación. Metodología. Estudio retrospectivo de los pacientes con enfermedad pulmonar crónica, enfermedad neuromuscular y otras patologías crónicas admitidos desde junio de 2011 a junio de 2017. Se realizó evaluación física general, evaluación de musculatura respiratoria y espirometría. Se planificó entrenamiento físico general y entrenamiento muscular respiratorio, con protocolos institucional, mixto y domiciliario. Resultados. Ingresaron al programa 156 pacientes (11,45 ± 3,55 años), 68 con enfermedad pulmonar crónica (11,56 ± 4,6 años, el 43,5 %), 45 con enfermedad neuromuscular (11,4 ± 3,7 años, el 28,8 %) y 43 con patologías crónicas diversas (11,31 ± 3,9 años). Del total, se entrenaron 102 (el 65,4 %); dirigido (n = 27), mixto (n = 23) y domiciliario (n = 50) con adherencia del 69 %, del 87,5 % y del 70 %, respectivamente. Aumentó el 19,3 % la presión inspiratoria máxima (p = 0,001), el 14,5 % la presión espiratoria máxima (p = 0,001), el 12,9 % la capacidad vital forzada (p = 0,001), el 11,6 % el volumen espiratorio forzado al primer segundo (p = 0,004) y 17,6 metros en el test de marcha de 6 minutos (p = 0,036) tras 3 meses de rehabilitación. Conclusiones. El protocolo de intervención i n c r e m e n t ó e l e s t a t u s f u n c i o n a l cardiorrespiratorio. La adherencia fue superior al 65 %.