A cluster-randomised clinical trial comparing two cardiovascular health education strategies in a child population: the Savinghearts project.

BACKGROUND: This paper describes a methodology for comparing the effects of an eduentertainment strategy involving a music concert, and a participatory class experience involving the description and making of a healthy breakfast, as educational vehicles for delivering obesity-preventing/cardiovascular health messages to children aged 7-8 years. METHODS/DESIGN: This study will involve a cluster-randomised trial with blinded assessment. The study subjects will be children aged 7-8 years of both sexes attending public primary schools in the Madrid Region. The participating schools (n=30) will be randomly assigned to one of two groups: 1) Group MC, in which the children will attend a music concert that delivers obesity-preventing/cardiovascular health messages, or 2) Group HB, in which the children will attend a participatory class providing the same information but involving the description and making of a healthy breakfast. The main outcome measured will be the increase in the number of correct answers scored on a knowledge questionnaire and in an attitudes test administered before and after the above interventions. The secondary outcome recorded will be the reduction in BMI percentile among children deemed overweight/obese prior to the interventions. The required sample size (number of children) was calculated for a comparison of proportions with an α of 0.05 and a ß of 0.20, assuming that the Group MC subjects would show values for the measured variables at least 10% higher than those recorded for the subjects of Group HB. Corrections were made for the design effect and assuming a loss to follow-up of 10%. The maximum sample size required will be 2107 children. Data will be analysed using summary measurements for each cluster, both for making estimates and for hypothesis testing. All analyses will be made on an intention-to-treat basis. DISCUSSION: The intervention providing the best results could be recommended as part of health education for young schoolchildren. TRIAL REGISTRATION: Clinicaltrials.gov: NCT01418872.

Second trimester amniotic fluid adiponectin level is affected by maternal tobacco exposure, insulin, and PAPP-A level.

OBJECTIVES: Adiponectin is an adipocyte-derived plasma protein with insulin-sensitizing and antiatherosclerotic properties. The objectives of the present study were to determine the amniotic fluid (AF) concentration of adiponectin during the second trimester of pregnancy and to demonstrate its association with maternal and fetal variables and AF concentrations of insulin, leptin, and pregnancy-associated-plasma-protein A (PAPP-A). STUDY DESIGN: We performed a cross-sectional study of 222 pregnant women who underwent amniocentesis at 15-18 weeks for genetic reasons. No malformation or chromosomal disorder was found in the newborn after birth. AF adiponectin, leptin, PAPP-A, and insulin concentrations were measured using commercially available assays. All maternal, fetal, and biochemical variables were studied using univariate and multivariate linear regression analysis to determine their association with the AF concentration of adiponectin. RESULTS: Adiponectin concentration was negatively correlated with maternal smoking status (ß=-5.208; p<0.001) and positively correlated with levels of insulin (ß=0.621; p=0.002) and PAPP-A (ß=40.150; p<0.001). Non-significant correlations were found between adiponectin concentration and maternal age, maternal body mass index, gestational age at amniocentesis, fetal gender, and AF level of leptin. CONCLUSION: These findings suggest that the fetus and its membrane adipocytokines, in relationship with maternal and other fetal variables, play a dynamic role in the regulation of energy and oxidative stress homeostasis due to its insulin-sensitizing and antiatherosclerotic effects. The association of these molecules with maternal tobacco consumption during pregnancy could have perinatal implications.

Enfermedades raras: un enfoque práctico

Guía dirigida tanto a los profesionales de la salud/clínicos como al colectivo de afectados por este tipo de enfermedades. Proporciona información de aspectos relacionados con la clínica, posibles opciones terapéuticas, solicitud de medicamentos huérfanos y pautas para el uso compasivo, recursos sociales disponibles, aspectos relacionados con la discapacidad, directorio de asociaciones de ayuda mutua, etc.

Enfermedades raras : un enfoque práctico

Guía dirigida tanto a los profesionales de la salud/clínicos como al colectivo de afectados por este tipo de enfermedades. Proporciona información de aspectos relacionados con la clínica, posibles opciones terapéuticas, solicitud de medicamentos huérfanos y pautas para el uso compasivo, recursos sociales disponibles, aspectos relacionados con la discapacidad, directorio de asociaciones de ayuda mutua, etc.

Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment).

Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is established with neuroimaging techniques. The most effective therapy for patients with Chiari type I malformation/syringomyelia is surgical decompression of the foramen magnum, however there are non-surgical therapy to relieve neuropathic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarily based on spinal or peripheral electrical stimulation. It is important to determine the needs of the patients in terms of health-care, social, educational, occupational, and relationship issues, in addition to those derived from information aspects, particularly at onset of symptoms. Currently, there is no consensus among the specialists regarding the etiology of the disease or how to approach, monitor, follow-up, and treat the condition. It is necessary that the physicians involved in the care of people with this condition comprehensively approach the management and follow-up of the patients, and that they organize interdisciplinary teams including all the professionals that can help to increase the quality of life of patients.

Chronic fatigue syndrome: aetiology, diagnosis and treatment.

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome.

[Sociosanitary impact on patients with rare diseases (ERES study)]. / Impacto sociosanitario en pacientes con enfermedades raras (estudio ERES).

BACKGROUND AND OBJECTIVE: The impact and burden of disease of the rare diseases (RD) is not known, also the type of disability that entail. The objective of the work is to analyze the socio-sanitary impact of the RD in Spain. PATIENTS AND METHOD: This is a nationwide study. The dimensions used were mobility, personal care and daily activities of the EUROQoL-5D questionnaire to analyze the degree of dependency of the patient with RD. RESULTS: 714 surveys were analyzed. 51.2% were men; 21.1% were children and 78.9% adults. The more frequent laboral status were: retired/pensioner, active and student (35.3%; 29.2%, and 17.1% respectively). In the last quarterly 8.4% of the patients were in situation of transitory labor incapacity: 5.7% men and 11.9% women (p < 0.005). The patients referred disability (slight or moderate degree) in the areas: physical (87.7%), emotional (83.6%), social (75.6%) and sensorial (53%). They presented severe mixed disability (sensorial and physic) in 6.4%. Patient organisations, physicians and Internet (80.1%; 48.2% and 47.3% respectively) were the used sources of information. The patients were more satisfied with doctor's care than social worker's (47% and 2.4% respectively), considering doctors more accessible than social workers (32.4% and 13.1% respectively). CONCLUSIONS: RD present a high percentage of disability and dependency, being both more severe in children. The patient organisations are the main source of information. Patients are more satisfied and consider the doctor more accessible than the social worker. This work might serve to make decisions in the socio-sanitary assistance for RD.

Enfermedades raras: un enfoque práctico

Presenta un manual operativo de consulta acerca de las enfermedades raras como su descripción e sintomas dirigido tanto a los profesionales de la salud/clínicos como al colectivo de afectados por este tipo de enfermedades. Información básica de caracter socio sanitario. Documento en formato PDF, requiere Acrobat Reader.

[Need for primary care training in rare diseases]. / Necesidades de formación en enfermedades raras para atención primaria.

OBJECTIVES: The problem of the need for primary care (PC) training in rare diseases (RD) is approached through a qualitative research study that tries to define its relevance and to identify the need for RD training in PC. METHODS: By means of naturalistic research methods (in-depth interviews and group dynamics), we tried to discover the personal and professional connotations of PC training in RD in the rural and urban areas of the Community of Madrid, Spain. The areas explored by means of structured interview were: challenges and RD definition; professional experience with RD; relevance of PC for RD; training and information in RD; needs and demands for RD in PC. RESULTS: We found no differences between the rural and urban groups nor between different professional categories. The RD concept was relatively unknown and difficulties arose in understanding the magnitude and overall importance of these diseases. Nor did the RD concept express the severity or the repercussions of these diseases. RDs awoke little professional interest, in contrast with the human interest aroused. CONCLUSIONS: The professionals interviewed thought that undergraduate training was sufficient, and rejected postgraduate training as unnecessary and unfeasible. The search for active information through Internet was the best way to obtain data to optimize criteria for patient referral. As such, the Information System for Rare Diseases in Spanish (Sistema de Información de Enfermedades Raras en Español, SIERE) (http://iier.isciii.es/er) meets the demands for information.

[Pulmonary hypertension during exercise in toxic oil syndrome]. / Hipertensión pulmonar con el ejercicio en el síndrome del aceite tóxico.

BACKGROUND AND OBJECTIVE: Toxic oil syndrome is a risk factor for pulmonary arterial hypertension (PAH) and new cases of this entity are emerging after more than 20 years since the initial toxic oil epidemic. Abnormal elevation of pulmonary systolic pressure with exercise may be considered an early marker of PAH in populations at risk. We aimed to analyze the pulmonary systolic pressure with exercise echocardiography in toxic oil syndrome patients. PATIENTS AND METHOD: 50 toxic oil syndrome patients (cases), and 20 healthy control subjects were submitted to rest and peak exercise echocardiography (semi supine cycloergometer) measuring pulmonary systolic pressure. In toxic oil syndrome patients, pulmonary carbon monoxide diffusion capacity was also analyzed. RESULTS: Peak exercise pulmonary systolic pressure was statistically similar in cases and controls. Nevertheless, 8% of cases reached a pulmonary systolic pressure > or = 80 mmHg and this fact was associated with mild pulmonary arterial hypertension, reduced right ventricular function and abnormal pulmonary diffusion capacity in the rest study. A rest pulmonary systolic pressure cut-off value > or = 27 mmHg had a 100% sensitivity and 71% specificity to predict a peak exercise systolic pulmonary pressure > or = 80 mmHg. CONCLUSIONS: A minority of toxic oil syndrome patients develop severe pulmonary arterial hypertension during exercise. This abnormal response is associated with other markers of pulmonary vasculopathy. Further studies are needed to elucidate the relation between these findings and the likelihood to develop pulmonary arterial hypertension in the future.

Characteristics of disability and handicap among Toxic Oil Syndrome (TOS) cohort patients: a cross-sectional study, 17 years after the original food intoxication.

PURPOSE: In 1981, a progressive multi-systemic disease called Toxic Oil Syndrome (TOS) appeared in Spain as an epidemic that affected 20,000 people. The International Classification of Impairments, Disabilities and Handicaps (ICIDH) was chosen to characterize the health status of patients more severely affected by TOS. METHODS: A random sample of 292 with permanent disability was selected. Disability was assessed with a questionnaire based on ICIDH and the Stanford Health Assessment Questionnaire. Handicap was measured using London Handicap Scale. Distributions of the proportions and 95% confidence intervals for disabilities, handicaps were calculated and stratified by dimensions, age and sex. The chi2 test was used for inter-group comparisons. RESULTS: Two hundred and fourteen patients were interviewed. Mobility-related and behaviour disabilities were most prevalent. Disability rose with age and was higher among women, except for behaviour disabilities which were more frequent in young men. Mean handicap score was 78.0 +/- 12.7. Handicap dimensions most affected were physical independence and economic self-sufficiency. CONCLUSIONS: The health profile of the population hardest hit by TOS is characterized by the presence of important functional and psychosocial disabilities that limit performance of daily living activities and social role, and are in accord with the handicap that such persons suffer.