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.

[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.

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

Fundamento y objetivo: Se desconoce el impacto y la carga de enfermedad en las enfermedades raras (ER), así como el tipo de discapacidades que conllevan. El objetivo de este trabajo ha sido analizar el impacto sociosanitario de las ER en España. Pacientes y método: Se trata de un estudio de ámbito nacional. Se utilizaron las dimensiones movilidad, cuidado personal y actividades cotidianas del cuestionario EUROQoL-5D para analizar el grado de dependencia del paciente con ER. Resultados: Se analizaron 714 encuestas. Un 51,2% de los encuestados eran varones; el 21,1%, niños, y el 78,9%, adultos. Los grupos laborales más frecuentes fueron: jubilado/pensionista, activo y estudiante (un 35,3, un 29,2 y un 17,1%, respectivamente). En el último trimestre el 8,4% de los pacientes estaba en situación de incapacidad laboral transitoria; de ellos, un 5,7% eran varones y el 11,9%, mujeres (p < 0,005). Los pacientes refirieron discapacidad (grado leve o moderado) en las áreas física (87,7%), emocional (83,6%), social (75,6%) y sensorial (53%). Presentaba discapacidad mixta (sensorial más física) de carácter grave el 6,4%. Las asociaciones de afectados, el médico e internet (un 80,1, un 48,2 y un 47,3%, respectivamente) eran las fuentes de información utilizadas por los pacientes. Éstos estaban más satisfechos con la atención del médico que con la del trabajador social (el 47 y el 2,4%, respectivamente) y consideraban más accesible al primero que al segundo (el 32,4 y el 13,1%, respectivamente). Conclusiones: Las ER se acompañan de un elevado porcentaje de discapacidad y dependencia, y ambas son más graves en niños. Las asociaciones de afectados constituyen la principal fuente de información. Los pacientes están más satisfechos y consideran más accesible al médico que al trabajador social. Este trabajo puede servir para tomar decisiones en la asistencia sociosanitaria de las ER

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

[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.

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

El estudio ha sido financiado por el Instituto de Salud Carlos III, mediante un contrato Administrativo (Exp: T_CV0450/0400) de fecha 24 de agosto de 2004. Introducción. El 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. Métodos. Mediante 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 área 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. Resultados. No 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. Conclusiones. Los 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

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

La eliminación urinaria de productos de lipoperoxidación depende de un ritmo biológico anual / Annual rhythm of urinary excretion of lipoperoxidation products

Introducción: existen numerosos rasgos biológicos ligados a ritmos diarios, anuales o estacionales. Uno de estos rasgos podría ser la producción y eliminación urinaria de productos de lipoperoxidación (sustancias reactivas al ácido tiobarbitúrico [TBARS]) eliminados por orina que son modificados por la crenoterapia con diferentes aguas mineromedicinales. El objetivo del presente artículo es analizar si la eliminación urinaria de TBARS depende de la época del año en que se determina. Material y métodos: se han obtenido muestras de orina de 230 voluntarios del Programa de Termalismo Social del IMSERSO (edad 52-81 años), 115 varones y 115 mujeres que se adscribieron a 2 balnearios diferentes en 6 épocas distintas del año: 110 al primero y 120 al segundo. A la llegada al balneario se determinó la concentración de TBARS mediante espectrofotometría; paralelamente se realizó a los pacientes historia clínica que incluyó registros de la presión arterial. Resultados: la media de eliminación total de TBARS a la llegada al balneario en la población del primero fue de 0,418 ± 0,025 nmol/mg de creatinina; en la segunda fue de 0,368 ± 0,01 nmol/mg de creatinina. Una de las posibles razones de los diferentes valores de ambas poblaciones, con un máximo de excreción urinaria en julio y un mínimo en noviembre, fue el hecho de que las determinaciones se realizaron en diferentes meses del año en ambas poblaciones. Conclusión: este estudio muestra que las tasas de eliminación de productos de lipoperoxidación siguen un ritmo anual

Introduction: many biological features are linked to daily, annual, or seasonal rhythms. One of these features could be the production and urinary excretion of lipoperoxidation products (TBARS), which are modified by crenotherapy with different mineromedicinal waters. The objective of the present article was to analyse whether urinary excretion of TBARS depends on the time of the year in which it is determined. Material and methods: urinary samples were obtained from 230 volunteers from the Social Thermalism Program of the Institute for the Elderly and Social Services (Instituto de Mayores y Servicios Sociales [IMSERSO]). There were 115 men and 115 women (aged 52-81years) who where assigned to two different spas at six different times of the year: 110 were assigned to the first spa and 120 to the second. TBARS concentration was determined on arrival at the spa by means of spectrophotometry; a clinical history was also taken, including blood pressure measurement. Results: the mean total TBARS excretion on arrival was 0.418 ± 0.025 nmol/mg of creatinine for the population from the first spa and 0.368 ± 0.01 nmol/mg of creatinine for the second. One of the reasons why these values differed between the two populations was that they were determined in different months of the year, showing a maximum excretion in July and a minimum in November. Conclusion: this study shows that excretion rates of lipid peroxidation products follows an annual rhythm