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

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 neurophatic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarly based on spinal or peripheral electrical stimulation

Trastorno cognitivo: una realidad en el síndrome de fatiga crónica

1.385 JCR (2011) Q2, 66/155 Medicine, general & interna

Síndrome de fatiga crónica: documento de consenso

0.437 JCR (2009) Q4, 109/133 Medicine, general & interna

Enfermedades raras: enfermedades crónicas que requieren un nuevo enfoque sociosanitario

El concepto de Enfermedades Raras es relativamente nuevo. Suponen aquellos procesos "que pueden ser mortales o provocar un debilitamiento crónico del paciente y que, debido a su escasa prevalencia, requieren esfuerzos combinados para tratarlas. A título indicativo, se considera una prevalencia escasa cuando es inferior a 5 casos por 10.000 personas en la Comunidad". La existencia de estas enfermedades está vinculada estrechamente con los medicamentos huérfanos, incluyendo como tales a todo fármaco, prótesis, agente biológico o preparación dietética destinado al tratamiento de una Enfermedad Rara. A este espectro hay que añadir dos factores más: 1. Los médicos de Atención Primaria no se sienten muy motivados en su conocimiento y 2. Necesitan una atención sociosanitaria compleja y habitualmente más onerosa que las enfermedades crónicas. Por todo lo expuesto las Enfermedades Raras se presentan como un universo que requiere un nuevo enfoque sociosanitario por parte de los sistemas de salud

Pharmacogenetic profile of xenobiotic enzyme metabolism in survivors of the Spanish toxic oil syndrome

7 pages, 3 figures, 5 tables.-- PMID: 11335185 [PubMed].-- PMCID: PMC1240277.-- Printed version published Apr 2001.In 1981, the Spanish toxic oil syndrome (TOS) affected more than 20,000 people, and over 300 deaths were registered. Assessment of genetic polymorphisms on xenobiotic metabolism would indicate the potential metabolic capacity of the victims at the time of the disaster. Thus, impaired metabolic pathways may have contributed to the clearance of the toxicant(s) leading to a low detoxification or accumulation of toxic metabolites contributing to the disease. We conducted a matched case-control study using 72 cases (54 females, 18 males) registered in the Official Census of Affected Patients maintained by the Spanish government. Controls were nonaffected siblings (n =72) living in the same household in 1981 and nonaffected nonrelatives (n = 70) living in the neighborhood at that time, with no ties to TOS. Genotype analyses were performed to assess the metabolic capacity of phase I [cytochrome P450 1A1 (CYP1A1), CYP2D6] and phase II [arylamine N-acetyltransferase-2 (NAT2), GSTM1 (glutathione S-transferase M1) and GSTT1] enzyme polymorphisms. The degree of association of the five metabolic pathways was estimated by calculating their odds ratios (ORs) using conditional logistic regression analysis. In the final model, cases compared with siblings (72 pairs) showed no differences either in CYP2D6 or CYP1A1 polymorphisms, or in conjugation enzyme polymorphisms, whereas cases compared with the unrelated controls (70 pairs) showed an increase in NAT2 defective alleles [OR = 6.96, 95% confidence interval (CI), 1.46-33.20] adjusted by age and sex. Glutathione transferase genetic polymorphisms (GSTM1, GSTT1) showed no association with cases compared with their siblings or unrelated controls. These findings suggest a possible role of impaired acetylation mediating susceptibility in TOS.The study was supported by grants 94/1828–1829 from the Fondo de Investigación Sanitaria (Spain). The present study generated a patient DNA collection deposited in the CISAT Center (Madrid), Centro de Investigación Sobre el Síndrome del Aceite de Colza.Peer reviewe

Necesidades de formación en enfermedades raras para atención primaria

IntroducciónEl problema de las necesidades formativas en enfermedades raras (ER) para atención primaria (AP) se aborda a través de un estudio de investigación cualitativa que pretende contribuir a delimitar el interés e identificar las necesidades de formación en ER en el marco de la AP.MétodosMediante métodos naturalísticos de investigación (entrevistas en profundidad y dinámica de grupo), se pretenden conocer las connotaciones personales y profesionales en cuanto a las necesidades de formación en ER de los profesionales de AP en el area rural y urbana de la comunidad de Madrid. Los dominios explorados mediante guión estructurado son: problemática y definición de ER, experiencia profesional con ER, interés de AP hacia las ER, formación e información en ER, necesidades y demandas de AP hacia ER.ResultadosNo se han encontrado diferencias entre los grupos rurales o urbanos ni entre los diferentes estamentos profesionales. El concepto de ER es poco conocido y se plantean dificultades para comprender la magnitud y la importancia global de estas enfermedades. Tampoco expresa la gravedad y las repercusiones que conllevan estas enfermedades. Las ER despiertan escaso interés profesional, en contraste con el interés humano.ConclusionesLos profesionales entrevistados creen suficiente la formación de pregrado y desestiman la formación de posgrado, por innecesaria y poco factible. La búsqueda de información activa, a través de internet, es la mejor forma para obtener la información que optimice sus criterios de derivación y, en esa línea, el Sistema de Información de Enfermedades Raras en Español (SIERE) (http://iier.isciii.es/er), está en línea con sus demandas informativas.ObjectivesThe 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.MethodsBy 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.ResultsWe 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.ConclusionsThe 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