[Clinical pathways for the care of multiple sclerosis patients]. / Diseño de una vía clínica para la atención a los pacientes con esclerosis múltiple.

INTRODUCTION: clinical pathways are standard health care methods to coordinate clinical work, reduce inter-clinician variability, improve patient care and increase staff and patient satisfaction. The aim of this study is to develop a clinical pathway capable of organising and developing standard procedures for diagnosis, treatment and care in patients with multiple sclerosis and to coordinate all medical specialists involved in this disease. METHODS: a multidisciplinary unit for the care of MS patients was developed. All of them and quality specialists analysed some international evidence-based studies, clinical guides, international guidelines and other clinical neurological pathways in several meetings and designed several documents for the clinical pathways. RESULTS: a clinical pathway was created consisting of a scientific-technical framework, which arranges the care in relation to the diagnosis and reatment. The framework is accompanied by various patient-information documents on the disease, an information sheet on diagnostic procedures and a map of the process. Quality standards were established to achieve continuous improvement in patient care. CONCLUSIONS: a clinical pathway for the care of MS patients in a multidisciplinary unit homogenises and organises the care which the MSpatient should receive from the initial symptoms to the progressive stages. This clinical pathway improves the quality of patient care, reduces the variability in work protocols and rationalises the use of the available health care resources.

Diseño de una vía clínica para la atención a los pacientes con esclerosis múltiple / Clinical pathways for the care of multiple sclerosis patients

Introducción: Las vías clínicas (VC) son herramientas para coordinar el trabajo asistencial, reducir la variabilidad entre el personal sanitario y mejorar la atención y el cuidado del paciente. La esclerosis múltiple (EM) es una enfermedad neurológica crónica que afecta a pacientes jóvenes y es incapacitante. El objetivo es desarrollar una vía clínica para mejorar el diagnóstico, el tratamiento y la atención de los pacientes con EM y, asimismo, facilitar la coordinación de todos los especialistas implicados en este proceso. Método: Siguiendo el modelo FOCUS-PDCA se organiza un equipo de trabajo integrado por diferentes profesionales implicados en la atención del paciente con EM. Se realiza una revisión bibliográfica exhaustiva y se llega a consenso; así, se diseñan los documentos de la VC con base en la evidencia científica. Resultados: Se crea una vía clínica compuesta por los siguientes elementos: una matriz temporal con una serie de anexos para ordenar el proceso diagnóstico y el tratamiento, un impreso de información a los pacientes sobre las pruebas diagnósticas, una hoja de información sobre la enfermedad y un mapa de procesos, una encuesta de evaluación de la calidad percibida y un documento con indicadores de calidad para evaluar la VC. Conclusiones: El desarrollo de una VC de EM facilita la atención multidisciplinaria y mejora la calidad asistencial. Esta propuesta es novedosa al enfocar la atención integral de la EM desde su inicio, tanto en aspectos diagnósticos como terapéuticos, incluyendo el ámbito ambulatorio (AU)

Introduction: Clinical pathways are standard health care methods to coordinate clinical work, reduce inter-clinician variability, improve patient care and increase staff and patient satisfaction. The aim of this study is to develop a clinical pathway capable of organising and developing standard procedures for diagnosis, treatment and care in patients with multiple sclerosis and to coordinate all medical specialists involved in this disease. Methods: A multidisciplinary unit for the care of MS patients was developed. All of them and quality specialists analysed some international evidence-based studies, clinical guides, international guidelines and other clinical neurological pathways in several meetings and designed several documents for the clinical pathways. Results: A clinical pathway was created consisting of a scientific-technical framework, which arranges the care in relation to the diagnosis and reatment. The framework is accompanied by various patient-information documents on the disease, an information sheet on diagnostic procedures and a map of the process. Quality standards were established to achieve continuous improvement in patient care. Conclusions: A clinical pathway for the care of MS patients in a multidisciplinary unit homogenises and organises the care which the MSpatient should receive from the initial symptoms to the progressive stages. This clinical pathway improves the quality of patient care, reduces the variability in work protocols and rationalises the use of the available health care resources (AU)

[A neurophysiological study of the alterations to the central and peripheral nervous systems in Friedreich's ataxia]. / Estudio neurofisiológico de las alteraciones del sistema nervioso central y periférico en la ataxia de Friedreich.

INTRODUCTION: Friedreich's ataxia (FA) is the most common type of early-onset hereditary ataxia, starting during childhood and adolescence. Both the central and peripheral nervous systems are compromised. AIM. To describe the alterations found in the neurophysiological examination and their relation with the degree of disability and the time the disease lasts. PATIENTS AND METHODS: We examined 26 patients diagnosed with FA by means of a genetic study with multimode evoked potentials, transcranial magnetic stimulation, peripheral nerve conductions and a study of small myelinated-unmyelinated sensory fibres using quantitative sensory tests (thermotest). RESULTS: Peripheral sensory potentials, somatosensory potentials and motor responses with transcranial stimulus were pathological in all patients. From the early stages of the disease there were both peripheral sensory neuropathy and alterations of the somatosensory potentials and motor responses with transcranial stimulus in the lower limbs. Alterations in the somatosensory potentials in the upper limbs and the motor responses obtained by transcranial stimulus were related with the degree of disability. Brainstem and visual potentials were altered in 16 and 28% of cases, respectively; only reduced amplitude of the P100 was related with the degree of disability. In the thermotest, 50% of the patients showed alterations. CONCLUSIONS: Increased disability in patients with FA is related with the progressive involvement of the somatosensory and pyramidal pathways. Although traditionally reports have claimed that the thick myelinated fibres are the ones involved in FA, we found alterations in the small calibre fibres in half the patients.

[Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients]. / Enfermedades de la cadena respiratoria mitocondrial. Evaluación y variabilidad en 52 pacientes.

INTRODUCTION: Clinical, electrophysiological, genetic and biochemical deficiencies variability were evaluated in 52 patients diagnosed of mitochondrial respiratory chain diseases (MRCD). PATIENTS AND METHODS: 26 men and 26 women, aged 19 to 79 years, were tested by clinical examination, electrophysiological techniques, muscle biopsy and genetic and biochemical studies. RESULTS: The patients were classified into seven phenotypes: myopathy, chronic progressive external ophthalmoplegia, progressive ophthalmoplegia plus ataxia, Kearns-Sayre syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke episodes (MELAS), myoclonic encephalopathy with ragged-red fibers (MERRF), and encephalopathies. Each phenotype may begin by different ways. The electromiography showed myopathy in 39 cases and various types of neuropathy in 10. Ragged-red COX negative fibers or widespread electron microscopic abnormalities were found in 47 cases. Simple deletions, multiple deletions and three different point mutations were observed. Deficiency of complexes I, II, III and IV were found alone or in different associations. CONCLUSIONS: MRCD shows wide variations in clinical, genetic and biochemical studies. Some patients with nonspecific manifestations, mainly of central nervous system, need careful attention and to be on account of diagnostic suspicion.