[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.] / Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa.

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 diseases are screened, including those recommended SNS except sickle cell anemia which is in the inclusion phase. In its 20-year history, 404,616 newborns (nb) have been analyzed, identifying 547 cases affected by the diseases included, with a global incidence of 1: 739 newborns and 1: 1.237 of the screened inborn errors of metabolism (IEM) (1:1.580 nb if excluding benign hyperphenylalaninemia-HPA), with an average participation of 99.35%, progressively higher during the analyzed period. Among the pathologies screened, congenital hypothyroidism (1:2.211 nb), cystinuria (1:4.129 nb) and HPA (1:5.699 nb), followed by phenylketonuria and cystic fibrosis (1:10,936 nb) stand out for their incidence. Sixty-six cases of false positives were identified (seventeen of them in relation to maternal pathology) and five false negatives, being the overall PPV and NPV of the program respectively of 89.2% and 99.99%, with a sensitivity of 99.09% and a specificity of 99.98%. The mortality rate of diagnosed CME patients is 1.52%, with eleven cases presenting symptoms prior to the screening result (2%). The intelligence quotient of IEM patients at risk of neurological involvement is normal in more than 95% of cases.

El Programa Gallego para la Detección Precoz de Enfermedades Endocrinas y Metabólicas se inició en 1978 y fue pionero en España en el cribado neonatal ampliado con la incorporación de la espectrometría de masas en julio de 2000. Como objetivo primario se criban veintiocho enfermedades, incluyendo las de la cartera básica del Servicio Nacional de Salud excepto la anemia de células falciformes, que está en fase de inclusión. En sus veinte años de trayectoria se analizaron 404.616 recién nacidos (RN), identificando 547 casos afectos de las enfermedades incluidas, con una incidencia global de 1:739 RN vivos y de 1:1.237 RN de las enfermedades metabólicas congénitas (EMC) cribadas (1:1.580 RN excluyendo la hiperfenilalaninemia benigna-HPA), con una participación media del 99,35%, progresivamente creciente durante el período analizado. Entre las patologías cribadas destacan por su incidencia el hipotirodismo congénito (1:2.211 RN), la cistinuria (1:4.129 RN) y la HPA (1:5.699 RN), seguida de fenilcetonuria y fibrosis quística (1:10.936 RN). Se identificaron sesenta y seis casos de falsos positivos (diecisiete de los mismos en relación con patología materna) y cinco falsos negativos, siendo el VPP (valor predictivo positivo) y el VPN (valor predictivo negativo) global del programa del 89,2% y 99,99%, respectivamente, con una sensibilidad de 99,09% y una especificidad del 99,98%. La tasa de mortalidad de los pacientes con EMC diagnosticados fue del 1,52%, presentando once casos sintomatología previa al resultado del cribado (2%). El cociente intelectual de los pacientes con EMC y riesgo de afectación neurológica es normal en más del 95% de los casos.

Evaluation of a biosurfactant extract obtained from corn for dermal application.

At present, there is an increasing demand to improve the sustainability of surface-active compounds in dermal formulations. Biosurfactants, which are derived from living cells, are considered to be more environmentally friendly than synthetic surfactants. Thus, the use of biosurfactants is a promising strategy for the formulation of more environmentally friendly and sustainable dermal products. In this work, a biosurfactant extract (BS) obtained from corn wet-milling industry was studied for its potential use in dermal formulations. The corn derived BS possesses good surface-active properties and was found to be a suitable co-stabilizer for nanoemulsions and nanocrystals for dermal application. It also possesses antioxidative and skin protective properties and was also able to increase the dermal penetration efficacy for lipophilic actives. In dermal formulations the BS can therefore be used as co-stabilizer with antioxidative and penetration enhancing properties at the same time.

Study of the synergic effect between mica and biosurfactant to stabilize Pickering emulsions containing Vitamin E using a triangular design.

HYPOTHESIS: Vitamin E has interesting biological functions for the cosmetic and pharmaceutical industry because it can act as a fat-soluble antioxidant, as well as peroxyl radical scavenger. However, this vitamin is formed by a group of compounds that include tocopherols (γ-tocopherols, α-tocopherol) characterized by their poor solubility in water, what implies the need of using stabilizing agents such as biosurfactants or minerals, in order to make them soluble or stable in formulations composed by water and oil. EXPERIMENTS: In this work, it has been evaluated the synergic effect between a mining silicate mineral (mica) and a biosurfactant extract, obtained from corn steep liquor, to stabilize emulsions containing water and a non-aqueous soluble antioxidant consisting of Vitamin E, through the use of a triangular design. FINDINGS: The results show that the presence of biosurfactant extract improves the emulsion volume up to 70% after 22 days, for an emulsion composed of Vitamin E and biosurfactant, whereas the mica component was able to increase the emulsion stability until values of 80% after 30 days of experiment, for those emulsions containing 10% of mica. Hence, both novel ingredients produce a synergistic effect on the Pickering emulsions carried out in the study.

Effect of modified atmosphere and vacuum packaging on some quality characteristics and the shelf-life of "morcilla", a typical cooked blood sausage.

The effect of modified atmosphere and vacuum packaging on the shelf-life of "morcilla", a traditional cooked blood sausage, was investigated. A total of 99 "morcillas" were packaged under vacuum and in modified atmosphere using three different gas mixtures: 15:35:50/O(2):N(2):CO(2) (atmosphere 1), 60:40/N(2):CO(2) (atmosphere 2) and 40:60/N(2):CO(2) (atmosphere 3), and stored during 2, 4, 6 and 8 weeks at 4 °C. Shelf life evaluation was based on pH, water activity (a(w)), colour (CIE L*, a*, b*, C* and h*), TBARS formation and microbial counts. The results indicated that, in general, storage time affected (P<0.05) all parameters whereas no significant differences were observed (P>0.05) among packaging conditions. Based on the microbial counts, the shelf-life of "morcilla" would be greater than 8 weeks for all packaging conditions. Samples packaged with high CO(2) concentrations (40:60/N(2):CO(2)) showed the lowest values of TBARS at the end of storage.

Changes in IL-10 and specific antibodies associated to successful Dermatophagoides pteronyssinus immunotherapy in children during the first year of treatment.

BACKGROUND: Allergen-specific immunotherapy (SIT) is a long-term treatment of respiratory allergy. OBJECTIVE: To look for early predictors of the effectiveness of Dermatophagoides pteronyssinus SIT. METHODS: A prospective multi-centre study was carried out in Spain. Children with D. pteronyssinus rhinitis or asthma were invited to participate. The study was divided into times: T0 (recruitment); T1 (inclusion); T2 a-f (immunotherapy times) and T3 (the end of study). Efficacy of SIT was assessed by clinical scores, visual analogue scales (VAS) and lung function tests. We performed D. pteronyssinus skin tests at T1 and T3, and determined specific serum IgE, IgG4 and IL-10 at T1, T2f and T3. Data were analysed using Mann-Whitney and Kruskal-Wallis tests, compared using Wilcoxon and Chi-square tests, and correlated to Spearman test. All tests had a significance level of 0.05. RESULTS: Thirty-eight children completed the study. At T1 all had rhinitis and 34 also had asthma. At T3, 30 patients had improved, six experienced no changes and two worsened. Improvement was associated to FEV1/FVC and VAS improvement; to a reduction in D. pteronyssinus skin prick test; to a progressive increase in serum levels of D. pteronyssinus IgE, and D. pteronyssinus, Der p1 and Der p2 IgG4. IL-10 levels showed an early increase at T2f (the end of initial build-up immunotherapy phase), and then a reduction at T3 (the end of a year of immunotherapy). Improvement associated to an early increase in IL-10 and was correlated with VAS and specific IgG4 evolution.

[Correlates of potassium transport during peritoneal equilibration tests using different dialysate glucose concentrations]. / Análisis del transporte peritoneal de potasio mediante pruebas de equilibrio peritoneal con diferentes concentraciones de glucosa.

BACKGROUND: there are gaps in the knowledge of factors which influence peritoneal potassium transport in Peritoneal Dialysis (PD). The aims of this study were to compare peritoneal potassium transport in PD patients undergoing 2.27% and 3.86% peritoneal equilibration tests (PET), and to disclose clinical correlates of this phenomenon. METHOD: ninety PD patients underwent 2.27% and 3.86% PET, in a random order. We compared peritoneal potassium transport in both tests, and searched for correlations between D/P potassium at 240 minutes (main study variable) and PET-derived markers of peritoneal function and selected demographic, clinical and biochemical variables, using a multivariate approach. MAIN RESULTS: D/P potassium showed a good agreement between both PET, and presented a univariate association with creatinine transport, but not with plasma potassium, ultrafiltration or sodium dip. Age, PD modality, peritoneal glucose load, icodextrin, ACEI-ARA and calcium antagonist therapy, urinary potassium and glomerular filtration rate were other univariate correlates of potassium transport. Multivariate analysis confirmed D/P creatinine at 240 minutes (B=0.40 [95% CI 0.26-0.53] 2.27%, B=0.36 [0.21-0.51] 3.86%, p < 0.0005) as the main predictor of D/P potassium at 240 minutes. Urinary potassium, rather than glomerular filtration rate, sustained also an inverse correlation with the dependent variable. Treatment with ACEI-ARA was consistently associated with peritoneal potassium transport (3.86% PET B=0.08 [0.04-0.12], p < 0.0005). CONCLUSIONS: The 2.27% and the 3.86% PET show a good agreement at the time of estimating peritoneal potassium transport. Urinary potassium excretion and treatment with ACEI-ARA (3.86% test) show an independent association with peritoneal potassium transport rates.

[Changing the frequency of administration of darbepoetin alfa (from weekly to fortnightly) maintains the haemoglobin levels in patients undergoing peritoneal dialysis]. / El cambio en la frecuencia de administración de darbepoetin alfa (de semanal a quincenal) mantiene los niveles de hemoglobina en pacientes en diálisis peritoneal.

SUMMARY BACKGROUND: Less frequent dosing regimens during anemia treatment could benefit Peritoneal Dialysis (PD) patients. We investigated the effectiveness of darbepoetin alfa dosed every-other-week (Q2W) for maintaining hemoglobin (Hb) levels (11-13 g/dL). PATIENTS AND METHODS: One hundred and nine PD patients from 14 centers participated in an 8-month observational, prospective study. Patients (Hb 11-13 g/dL) receiving weekly (QW) darbepoetin alfa switched to Q2W dosing at the investigator's discretion. Doses were adjusted according to published guidelines. RESULTS: Sixty-nine percent (75 out of 109) of patients switched to Q2W dosing. Thirty-three percent maintained the g/week, equivalent to twice the previous mean weekly dose (26.1-25.8 g/week, QW dose). Forty-seven percent received a dose reduction (35.8-20.2 equivalent to the previous QW dose). More patients in the maintenance dose group 11 g/dL than those receiving a reduced weekly dose (80% vs. had Hb levels 51.4%, respectively, p = 0.0236). During the Q2W phase, the mean Hb level ranged from 12.0-12.5 g/dL for the maintenance dose group and 11.5-12.0 g/dL for the reduced dose group. From the switch to the end of the study, the mean (SD) change in Hb was -0.7 g/dL (0.98 g/dL, p = 0.0557) and -0.6 g/dL (1.6 g/dL, p = 0.1296) for the maintenance and reduced dose groups, respectively. The Q2W darbepoetin alfa was well tolerated. Only a single treatment-related adverse event (polycythemia) occurred. CONCLUSION: The majority of PD patients receiving QW darbepoetin alfa can be effectively switched to Q2W and still maintain their Hb level.

[Serious accidents caused by horses. Warnings and prevention rules]. / Accidentes graves provocados por caballos. Alertas y pautas de prevención.

INTRODUCTION: Children's equestrian activities in the domestic, play activities, sports and educational areas are relatively frequent, and are not exempt from risks. Nevertheless, there is a lack of data on horse-related injuries, their circumstances and the key points for their prevention. METHOD: Retrospective and descriptive study of pediatric equestrian injuries admitted to Hospital between July 1997 and September 2008. RESULTS: A total of 17 patients with ages between 4 and 17 years were analyzed. There were 14 accidental falls, 2 kicks and 1 bite, and 8 patients had lost consciousness after the accident. Only 1 patient used a protective helmet. There were 3 skull fractures, 4 intracranial haemorrhages, 1 pneumoencephalus and 2 diffuse axonal injuries. There were also 4 long bone fractures, 1 jaw fracture, 1 vertebral wedging and 1 partial ear avulsion were recorded. A total of 8 patients required intensive care, 2 underwent neurosurgery due to an intracranial haematoma and 4 surgical fracture reduction. CONCLUSIONS: Horse handling by children and teenagers can be a high risk activity. In our cases brain trauma was the most common and severe injury. Due to the poor use of protection devices by our patients, we believe it is now necessary to take measures to increase safety in equestrian activities.

[Inflammation, residual renal function, overhydration, and membrane failure. The Rubik's cube of peritoneal dialysis]. / Inflamación, función renal residual, sobrehidratación y fallo de membrana. El cubo de Rubik de la diálisis peritoneal.

Over the last years, a large amount of experimental and clinical evidence has been accumulated that supports the existence of interactions between the decline in residual renal function, hydration status, inflammatory states and functional and structural deterioration of the peritoneal membrane in patients treated with peritoneal dialysis. These interactions are complex and remain far from being fully understood, but each one of these alterations appears to be capable of aggravating the harmful effects of the others, clearly affecting the probabilities of survival of these patients. Preservation of residual renal function and functional capacity of the peritoneal membrane, together with other measures to prevent overhydration and reduce the intensity of inflammatory phenomena, are essential mechanisms for risk prevention in these patients, and should be addressed from a joint perspective. New peritoneal dialysis solutions, apparently more biocompatible, could play an essential role in the achievement of these objectives.

[Immunosuppressive treatment in patients starting peritoneal dialysis after functional arrest of kidney transplant. What to do?]. / Tratamiento inmunosupresor en el paciente que inicia diálisis peritoneal tras el cese funcional del trasplante renal. ¿Qué hacer?

The growing number of kidney patients who have to restart dialysis after functional failure of a kidney transplant has brought to this context the general controversy on dialysis modality selection criteria. These should be applied from a longterm perspective, since each patient may benefit more from one treatment or another at different times in his clinical course. When the issue is analyzed from a general perspective, peritoneal dialysis and hemodialysis seem to provide similar results in renal transplant patients, although the available information is still insufficient. The crucial prognostic nature of residual renal function in incident patients on peritoneal dialysis brings up the issue of wether it is appropriate to maintain some type of immunosuppression after restarting dialysis, at least until total failure of graft function. This decision is currently based on purely empirical considerations, since we do not have reliable information to answer the key questions. Thus, we do not know if residual renal function has the same importance in this context as in the overall renal population. Neither if withdrawal of maintenance of immunosuppression will presumably have the same effect in all cases. The side effects of maintaining partial immunosuppression and the overall clinical yield for the patient are also not well defined. Finally, it is unclear what immunosuppression should be maintained, although there is agreement that it should be lowgrade; steroids and to lesser extent calcineurin inhibitors are the preferred agents, but always on empirical grounds. Because of the growing importance of this subpopulation of renal patients, these questions should be answered in a systematic manager in coming years.

Benefits of preserving residual renal function in peritoneal dialysis.

Residual renal function (RRF) is of paramount importance in patients with end-stage renal disease, with benefits that go beyond contributing to achievement of adequacy targets. Several studies have found that RRF rather than overall adequacy (as estimated from total small solute removal rates) is an essential marker of patient and, to a lesser extent, technique survival during chronic peritoneal dialysis (PD) therapy. In addition, RRF is associated with a reduction in blood pressure and left ventricular hypertrophy, increased sodium removal and improved fluid status, lower serum beta(2)-microglobulin, phosphate and uric acid levels, higher serum hemoglobin and bicarbonate levels, better nutritional status, a more favorable lipid profile, decreased circulating inflammatory markers, and lower risk for peritonitis in PD. As compared with conventional hemodialysis, PD is associated with a slower decrease in RRF. This highlights the usefulness of strategies oriented to preserve both RRF and the long-term viability of the peritoneal membrane. Several factors contributing to the loss of RRF have been identified and should be avoided. Renoprotective drugs and new glucose-sparing, more biocompatible PD regimes may prove useful tools to preserve RRF and peritoneal membrane function in the near future.

[Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)]. / Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia.

INTRODUCTION: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder caused by an inherited deficiency of branched chain alpha-ketoacid dehydrogenase activity. Accumulation of the amino acids leucine, isoleucine, valine and alloisoleucine and their metabolic products in cells and biological fluids results in severe brain dysfunction. PATIENTS AND METHODS: We present three cases of MSUD diagnosed in Galicia since 2000, the year in which the Extended Newborn Screening Program by tandem mass spectrometry was started in this region. One of the patients was diagnosed on the basis of early clinical presentation and the others by neonatal screening. Enzymatic and molecular studies confirmed two classic cases of MSUD and an intermediate variant. We describe the clinical and biochemical details at confirmation of diagnosis and the long-term outcome of the three patients. Throughout follow-up, all the patients maintained adequate leucine levels, which were near the normal range (mean levels: 220, 177 and 252 micromol/L, respectively). Several moderate metabolic decompensations were observed but leucine levels only occasionally exceeded 1000 micromol/L (one day in two patients). IQ tests were performed in all patients and scores were within the normal range. In view of our results, we believe the following measures are essential to improve the prognosis of MSUD: inclusion of this disease in Expanded Neonatal Screening Programs with early samples (at 2-3 days of life); aggressive treatment in the initial phase and during acute decompensations; strict metabolic control to prevent crises, monitoring of branched-chain amino acids (dried blood spot sample), and maintenance of long term plasma leucine levels below 300 micromol/L.

[Economic study of dialysis using the cost-per-procedure method according to clinical protocols]. / Estudio económico de la diálisis por el método de coste por procedimiento ajustado a protocolo clínico.

Studies analyzing the economic cost of dialysis therapy have raised a considerable interest in the nephrologic community, both inside and outside our country. The objective of the present study was to approach this question from a different point of view, by applying the cost-per-procedure method, according to clinical protocol, to all the routine clinical procedures in our dialysis unit (both Hemodialysis and Peritoneal Dialysis). We analyzed 68 routine protocols (42 for Hemodialysis and 26 for peritoneal Dialysis), carrying out a pormenorized study of all the components of the economic cost of each procedure (personnel, laboratory, surgical and sanitary material, drugs and other concepts). We calculated the final cost of all these procedures after individualizing the different components of the economic spends, with the informatic support of the management department of our center, and in coordination with the data bases of the Pharmacy and General Supplies units. Although the initial implementation of this method is tedious, it subsequently allows to analyze the global cost of therapy in the Unit, as also the cost of certain subsets, or even particular patients, in a simple and flexible way. Moreover, the system is easy to update, as clinical protocols undergo changes or the economic cost of individual components vary. Finally, this method is a useful tool at the time of comparing the cost of clinical procedures in different centres, according to their varying clinical protocols, economic spends and clinical results.

[Guidelines of the Spanish Society of Nephrology. Clinical practice guidelines for peritoneal dialysis]. / Guías Sociedad Española de Nefrología. Guías de práctica clínica en diálisis peritoneal.

In Spain and in each of its autonomous communities, the dialysis treatment of chronic renal disease stage 5 is totally covered by public health. Peritoneal dialysis, in any of its modalities, is established as the preferred home dialysis technique and is chosen by high percentage of patients as their choice in dialysis treatment. The Spanish Society of Nephrology has promoted a project of creation of performance guides in the field of peritoneal dialysis, entrusting a work group composed of members of the Spanish Society of Nephrology a with the development of these guides. The information offered is based on levels of evidence, opinion and clinical experience of the most relevant publications of the topic. In these guides, after defining the concept of << peritoneal dialysis>>, the obligations and responsibilities of the sanitation team of the peritoneal dialysis unit are determined, and protocols and performance procedures that try to include all the aspects that concern the patient with chronic renal disease in substitute treatment with this technique are developed. They propose prescription objectives based on available clinical evidence and, lacking this, on the consensus of the experts' opinions. The final aim is to improve the care and quality of the of the patient in peritoneal dialysis, optimizing in this way the survival of the patient and of the technique. In Spain, as in other neighbouring countries, peritoneal dialysis has an incidence and prevalence that is much lower than that of hemodialysis, ranging in the last evaluation by the Spanish Society of Nephrology between 5 and 24% in the different autonomous communities. The great majority of peritoneal dialysis units form part of the public network of the Spanish state, with special representation as a Satellite Unit or Concerted Center related to the public hospital of reference, on which it must depend.