Transition from paediatric care to adult care for patients with mucopolysaccharidosis. / Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis.

Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. To overcome the barriers that might arise during the transition, the authors consider it essential to implement a flexible plan with a coordinator for the entire process, systematising the information through a standardised paediatric discharge report and educating the patient and their family about the disease, showing the characteristics of the healthcare system in this new stage. The final objective is that, once the transition to adulthood has been completed, the patient's autonomy and potential development are maximised and that the patient receives appropriate healthcare during this transition.

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.

Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.

[Carotid intima-media thickness distribution according to the stratification of cardiovascular risk by means of Framingham-REGICOR and score function charts]. / Distribución del grosor íntima-media carotídeo en función de la estratificación del riesgo cardiovascular según las funciones de Framingham-REGICOR y SCORE.

BACKGROUND: Carotid intima-media thickness (cIMT) has been suggested as a further tool for risk function charts. The aim of this study was to describethe relationship between cIMT and cardiovascular risk (CVR) estimation according to Framingham-REGICOR and SCORE equations. METHODS: Observational, cross-sectional cohort study from 362 hypertensive subjects. Demographic and clinical information were collected as well as laboratory, ultrasonographic and CVR estimation by the Framingham-REGICOR and SCORE functions. Statistical analysis was performed using SPSS software (version 20,0). To analyze the data, statistical tests such as Chi-square, T-test, ANOVA, and Pearson correlation coefficient were used. RESULTS: According to both functions, differences on mean cIMT were found between low CVR group and intermediate to high groups. No differences were found between intermediate and high risk groups (cIMT: 0,73mm low risk patients vs. 0,89 or 0,88mm respectively according to SCORE function and cIMT: 0,73 vs. 0,85 or 0,87mm respectively according to Framingham-REGICOR function). cIMT correlated positively with CVR estimation according to both SCORE (r=0,421; P<.01), and Framingham-REGICOR functions (r=0,363; P<.01). CONCLUSIONS: cIMT correlates positively with CVR estimated by SCORE and Framingham-REGICOR functions. cIMT in those subjects at intermediate risk is similar to those at high risk. Our findings highlight the importance of carotid ultrasound in identifying silent target-organ damage in those patients at intermediate CVR.

[Comparison of the cardiovascular predictive value of MDRD and CKD-EPI in estimating chronic kidney disease]. / Comparación del valor predictivo cardiovascular de MDRD y CKD-EPI en la estimación de la enfermedad renal crónica.

OBJECTIVE: To assess predictive value of the cardiovascular prognosis by comparing the two most used formulas for the estimation of glomerular filtration rate in hypertensive patients. MATERIAL AND METHODS: A retrospective cohort study was designed that included 405 patients diagnosed with essential hypertension. The patients were referred from Primary Care to the Hypertension and Vascular Risk Unit between January 1, 1998 and August 31, 1999. Blood pressure measurements, blood and urine analysis, and echocardiography were simultaneously performed. They were followed up for 12.5 years (mean [± IQR]: 10.61 [± 3.11] years) and 174 events were recorded. RESULTS: The study included 405 patients (53.8% women), with a mean age of 55.5 years. The estimated glomerular filtration rate according to the MDRD and CKD-EPI equations was 73.9±2.6 mL/min/1.73m(2) and 76.9±2.2 mL/min/1.73m(2), respectively. The prevalence of chronic kidney disease was 31.6% and 23.9%, respectively. Using the CKD-EPI equation led to the re-classification of 22.9% of patients. The incidence rate ratio (IRR [95%CI] for chronic kidney disease identified by the MDRD equation was 2.4 [1.8-3.3], and for the CKD-EPI calculation it was 2.5 [1.8 to 3.3]). CONCLUSIONS: Both equations estimate similar magnitudes of renal function, although the CKD-EPI equation has less false positives, and both have similar prognostic values in patients at high cardiovascular risk as well those at low risk.

[Epidemiological events related to decompensated heart failure]. / Factores epidemiológicos asociados a la hospitalización por descompensación de la insuficiencia cardiaca.

OBJECTIVE: The present study aimed to evaluate the profile of patients with decompensated heart failure hospitalized in a tertiary hospital. METHODS: It was designed an observational and retrospective study where data from clinical records of patients suffering from heart failure along 2005 were registered randomly. RESULTS: 209 patients were collected (average age: 78.6 +/- 9.1; male: 52.4%) with a comorbidity rate of 87.55%. Almost one third of them have not stimation of systolic function and among the others 72.4% have it preserved. Most of decompensated were due to respiratory infections. Ischemic-hipertensive cardiopathy was the most frequent aetiology of systolic disfunction. Average stay was 12.9 days with a mortality rate of 9.56%. Its main risk factors were advanced stages in NYHA od Red Cross scales, as so as dementia or ictus. CONCLUSIONS: The present study shows a patient hospitalized for decompensated heart failure roughly different from that one reported at clinical trials. It makes difficult to apply therapeutical interventions, previously well documented to be useful.

[Epidemiology of heart failure. Ratio of epidemic]. / Epidemiología de la insuficiencia cardiaca. Proporciones de epidemia.

The Heart Failure is a complex sindrom with a high prevalence in the population, being about 10% in older than 70 years and it is continuosly increasing . Its incidence in persons older than 65 years is about 1% per year. In developed countries it is the first cause of hospitalitation in older than 65 years, supposing the 5% of total admissions and it is increasing every year. The most of authors recognise that the numbers reach values of epidemic, although it is true that it is difficult to determine and cuantify due to its complexity. Although the supervivence has improved in last years, it continues being in a bad pronostic with a mortality about 50% after 5 years approximately of the diagnostic . In order to its high prevalence and its high rate of admissions-readmissions it supposes a problem of public health due to high assistance work. Globally it is estimated that the direct costs of heart failure suppose 1-2 % of healthy cost of developed countries.

[Pacemaker endocarditis]. / Endocarditis del marcapasos.

Pacemaker endocarditis is a rare but serious complication of permanent transvenous pacing. The most common presentation is fever syndrome or gram positive bacteremia. For the diagnostic it is important to performed blood cultures and an echocardiography. A retrospective study included the cases of pacemaker endocarditis diagnosed in the Internal Medicine Department of our Hospital between 1989-2003. Six patients were included. Repeated manipulation of the system and diabetes were the most frequent risk factors. The most frequently detected causative microorganisms were Staphylococci. In spite of the low sensitivity of the transthoracic echocardiography in expert hands it can improve, in this series it places in 66 %. Surgical treatment with cardiopulmonary bypass and implantation of a new system was performed in the same intervention in all patients. None relapsed and the overall mortality was 17%.

[Pacemaker endocarditis]. / Endocarditis del marcapasos.

In the last years an increment has taken place in the pacemaker and implantable cardioverter-defibrillator indications that will have as consequence an increase of the prevalence of endocarditis associated to intravascular devices, for what acquires special relevance for the clinician to know this entity and to include it in his differential diagnoses. The objective of this article is to describe the epidemiology, clinic characteristics, diagnosis, treatment and outcome of the pacemaker endocarditis.

Effect of iron and manganese on hydroxyl radical production by 6-hydroxydopamine: mediation of antioxidants.

6-Hydroxydopamine (6-OHDA) neurotoxicity has often been related to the generation of free radicals. Here we examined the effect of the presence of iron (Fe(2+) and Fe(3+)) and manganese and the mediation of ascorbate, L-cysteine (CySH), glutathione (GSH), and N-acetyl-CySH on hydroxyl radical (*OH) production during 6-OHDA autoxidation. In vitro, the presence of 800 nM iron increased (> 100%) the production of *OH by 5 microM 6-OHDA while Mn(2+) caused a significant reduction (72%). The presence of ascorbate (100 microM) induced a continuous generation of *OH while the presence of sulfhydryl reductants (100 microM) limited this production to the first minutes of the reaction. In general, the combined action of metal + antioxidant increased the *OH production, this effect being particularly significant (> 400%) with iron + ascorbate. In vivo, tyrosine hydroxylase immunohistochemistry revealed that intrastriatal injections of rats with 6-OHDA (30 nmol) + ascorbate (600 nmol), 6-OHDA + ascorbate + Fe(2+) (5 nmol), and 6-OHDA + ascorbate + Mn(2+) (5 nmol) caused large striatal lesions, which were markedly reduced (60%) by the substitution of ascorbate by CySH. Injections of Fe(2+) or Mn(2+) alone showed no significant difference to those of saline. These results clearly demonstrate the role of ascorbate as an essential element for the neurotoxicity of 6-OHDA, as well as the diminishing action of sulfhydryl reductants, and the negligible effect of iron and manganese on 6-OHDA neurotoxicity.

Inhibition of brain monoamine oxidase activity by the generation of hydroxyl radicals: potential implications in relation to oxidative stress.

Monoamine oxidase (MAO) is an enzyme involved in brain catabolism of monoamine neurotransmitters whose oxidative deamination results in the production of hydrogen peroxide. It has been documented that hydrogen peroxide derived from MAO activity represents a special source of oxidative stress in the brain. In this study we investigated the potential effects of the production of hydroxyl radicals (*OH) on MAO-A and MAO-B activities using mitochondrial preparations obtained from rat brain. Ascorbic acid (100 microM) and Fe2+ (0.2, 0.4, 0.8, and 1.6 microM) were used to induce the production of *OH. Results showed that the generation of *OH significantly reduced both MAO-A (85-53%) and MAO-B (77-39%) activities, exhibiting a linear correlation between both MAO-A and MAO-B activities and the amount of *OH produced. The reported inhibition was found to be irreversible for both MAO-A and MAO-B. Assuming the proven contribution of MAO activity to brain oxidative stress, this inhibition appears to reduce this contribution when an overproduction of *OH occurs.

Autoxidation and neurotoxicity of 6-hydroxydopamine in the presence of some antioxidants: potential implication in relation to the pathogenesis of Parkinson's disease.

6-Hydroxydopamine (6-OHDA) is a dopaminergic neurotoxin putatively involved in the pathogenesis of Parkinson's disease (PD). Its neurotoxicity has been related to the production of reactive oxygen species. In this study we examine the effects of the antioxidants ascorbic acid (AA), glutathione (GSH), cysteine (CySH), and N-acetyl-CySH (NAC) on the autoxidation and neurotoxicity of 6-OHDA. In vitro, the autoxidation of 6-OHDA proceeds rapidly with the formation of H2O2 and with the participation of the H2O2 produced in the reaction. The presence of AA induced a reduction in the consumption of O2 during the autoxidation of 6-OHDA and a negligible presence of the p-quinone, which demonstrates the efficiency of AA to act as a redox cycling agent. The presence of GSH, CySH, and NAC produced a significant reduction in the autoxidation of 6-OHDA. In vivo, the presence of sulfhydryl antioxidants protected against neuronal degeneration in the striatum, which was particularly remarkable in the case of CySH and was attributed to its capacity to remove the H2O2 produced in the autoxidation of 6-OHDA. These results corroborate the involvement of oxidative stress as the major mechanism in the neurotoxicity of 6-OHDA and the putative role of CySH as a scavenger in relation to PD.