ABSTRACT
INTRODUCCIÓN: La capacidad organizativa en términos de recursos y circuitos asistenciales que permiten acortar el tiempo de respuesta ante un nuevo caso de ictus es clave para obtener un buen resultado. En este estudio se compararon el abordaje terapéutico y los resultados del tratamiento de centros de asistencia tradicional (equipos de ictus, sin Unidad de Ictus) y con Unidad de Ictus. MÉTODOS: Estudio de tipo prospectivo, cuasiexperimental (sin aleatorización de las unidades analizadas) para realizar comparaciones entre 2 centros con Unidad de Ictus y 4 centros con atención tradicional por Neurología, sobre una selección de indicadores consensuados para monitorizar la calidad de la atención en ictus. Participaron 225 pacientes. Además, se utilizaron cuestionarios autoadministrados para recoger la valoración del servicio y la asistencia sanitaria recibida por parte de los pacientes. RESULTADOS: Los centros con Unidad de Ictus mostraron menores tiempos de respuesta tras el inicio de los síntomas, tanto al tiempo para llegar al centro, como para el diagnóstico por imagen considerando la hora de llegada del paciente al hospital. La capacidad de respuesta para aplicar tratamiento con trombólisis intravenosa fue mayor entre los hospitales con Unidad de Ictus frente a los centros con atención tradicional por Neurología. CONCLUSIÓN: Los centros con Unidad de Ictus mostraron un mejor ajuste a los estándares de tiempos de respuesta de referencia en el ictus, calculados en el estudio Quick frente a los centros con atención tradicional por Neurología
INTRODUCTION: Organisational capacity in terms of resources and care circuits to shorten response times in new stroke cases is key to obtaining positive outcomes. This study compares therapeutic approaches and treatment outcomes between traditional care centres (with stroke teams and no stroke unit) and centres with stroke units. METHODS: We conducted a prospective, quasi-experimental study (without randomisation of the units analysed) to draw comparisons between 2 centres with stroke units and 4 centres providing traditional care through the neurology department, analysing a selection of agreed indicators for monitoring quality of stroke care. A total of 225 patients participated in the study. In addition, self-administered questionnaires were used to collect patients' evaluations of the service and healthcare received. RESULTS: Centres with stroke units showed shorter response times after symptom onset, both in the time taken to arrive at the centre and in the time elapsed from patient's arrival at the hospital to diagnostic imaging. Hospitals with stroke units had greater capacity to respond through the application of intravenous thrombolysis than centres delivering traditional neurological care. CONCLUSION: Centres with stroke units showed a better fit to the reference standards for stroke response time, as calculated in the Quick study, than centres providing traditional care through the neurology department
Subject(s)
Humans , Male , Female , Aged , Medicine , Stroke/diagnosis , Stroke/drug therapy , Thrombolytic Therapy/statistics & numerical data , Time-to-Treatment/statistics & numerical data , Health Resources , Hospitals , Prospective Studies , Surveys and Questionnaires , Treatment OutcomeABSTRACT
INTRODUCTION: Organisational capacity in terms of resources and care circuits to shorten response times in new stroke cases is key to obtaining positive outcomes. This study compares therapeutic approaches and treatment outcomes between traditional care centres (with stroke teams and no stroke unit) and centres with stroke units. METHODS: We conducted a prospective, quasi-experimental study (without randomisation of the units analysed) to draw comparisons between 2 centres with stroke units and 4 centres providing traditional care through the neurology department, analysing a selection of agreed indicators for monitoring quality of stroke care. A total of 225 patients participated in the study. In addition, self-administered questionnaires were used to collect patients' evaluations of the service and healthcare received. RESULTS: Centres with stroke units showed shorter response times after symptom onset, both in the time taken to arrive at the centre and in the time elapsed from patient's arrival at the hospital to diagnostic imaging. Hospitals with stroke units had greater capacity to respond through the application of intravenous thrombolysis than centres delivering traditional neurological care. CONCLUSION: Centres with stroke units showed a better fit to the reference standards for stroke response time, as calculated in the Quick study, than centres providing traditional care through the neurology department.
Subject(s)
Medicine , Stroke , Thrombolytic Therapy/statistics & numerical data , Time-to-Treatment/statistics & numerical data , Aged , Female , Health Resources , Hospitals , Humans , Male , Prospective Studies , Spain , Stroke/diagnosis , Stroke/drug therapy , Surveys and Questionnaires , Treatment OutcomeABSTRACT
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, accounting for 27% of the total. The second most common are RAPSN mutations. We found a higher rate of GFPT1 mutations in comparison with other populations. Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management.
Subject(s)
Myasthenic Syndromes, Congenital/genetics , Myasthenic Syndromes, Congenital/physiopathology , Adolescent , Adult , Female , Humans , Male , Middle Aged , Myasthenic Syndromes, Congenital/classification , Myasthenic Syndromes, Congenital/epidemiology , Spain/epidemiology , Young AdultABSTRACT
INTRODUCTION: The Aragon Stroke Care Plan (PAIA) was created in 2008 within the framework of the Spanish National Health System. Monitoring hospital care of strokes by means of periodic audits was defined as one of its lines of work. AIM: To determine the quality of the hospital care process for stroke patients in Aragon by using quality indicators. MATERIALS AND METHODS: Three audits were carried out (in the years 2008, 2010 and 2012) following the same methodology, based on the retrospective review of a representative sample of admissions due to stroke in each of the general hospitals belonging to the Aragonese Health Service. Information was collected on 48 indicators selected according to their scientific evidence or clinical relevance. RESULTS: Altogether 1011 cases were studied (331 in the first audit, and 340 in the second and the third). Thirty-one indicators showed a significant improvement (some of the most notable being the indicators of quality of the medical record, neurological assessment, initial preventive measures and, especially relevant, performing the swallowing test), two underwent a decline in their condition (related with rehabilitation treatment) and 15 did not register any significant variation. CONCLUSIONS: The implementation of the PAIA has given rise to a notable improvement in most of the quality indicators evaluated, which reflects an ongoing improvement in hospital stroke care. The progressive generalisation of specialised care and the creation of stroke units are some of the determining factors.
TITLE: El audit como herramienta de mejora continua en el Plan de Atencion al Ictus de Aragon.Introduccion. El Plan de Atencion al Ictus de Aragon (PAIA) se creo en 2008 en el marco de la Estrategia Nacional en Ictus del Sistema Nacional de Salud. La monitorizacion de la atencion hospitalaria al ictus mediante auditorias periodicas se definio como una de sus lineas de trabajo. Objetivo. Determinar la calidad del proceso asistencial hospitalario prestado al paciente con ictus en Aragon mediante el uso de indicadores de calidad. Materiales y metodos. Se realizaron tres audits (en los años 2008, 2010 y 2012) siguiendo la misma metodologia, basada en la revision retrospectiva de una muestra representativa de ingresos por ictus en cada uno de los hospitales generales del Servicio Aragones de Salud. Se recogio informacion sobre 48 indicadores seleccionados segun su evidencia cientifica o relevancia clinica. Resultados. Se estudiaron 1.011 casos (331 en el primer audit, y 340 en el segundo y en el tercero). Treinta y un indicadores presentaron una mejoria significativa (entre ellos destacan los indicadores de calidad de la historia clinica, de evaluacion neurologica, las medidas preventivas iniciales y, con especial relevancia, la realizacion de test de deglucion), dos sufrieron empeoramiento (relacionados con el tratamiento rehabilitador) y 15 no registraron variaciones significativas. Conclusiones. La implantacion del PAIA ha supuesto una mejoria notable en la mayoria de los indicadores de calidad evaluados, reflejo de una mejora continua en la atencion hospitalaria del ictus. La generalizacion progresiva de la atencion especializada y la creacion de las areas de ictus son algunos de los factores determinantes.
Subject(s)
Clinical Audit , Hospitalization , Quality Indicators, Health Care , Stroke Rehabilitation/standards , Stroke/therapy , Humans , Medical Records , Retrospective StudiesABSTRACT
Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes. We present a comprehensive description of the clinical and molecular findings of ten patients with CMS due to mutations in RAPSN, mostly with a long-term follow-up. Two patients were homozygous and eight were heterozygous for the common p.Asn88Lys mutation. In three of the heterozygous patients we have identified three novel mutations (c.869T > C; p.Leu290Pro, c.1185delG; p.Thr396Profs*12, and c.358delC; p.Gln120Serfs*8). In our cohort, the RAPSN mutations lead to a relatively homogeneous phenotype, characterized by fluctuating ptosis, occasional bulbar symptoms, neck muscle weakness, and mild proximal muscle weakness with exacerbations precipitated by minor infections. Interestingly, episodic exacerbations continue to occur during adulthood. These were characterized by proximal limb girdle weakness and ptosis, and not so much by respiratory insufficiency after age 6. All patients presented during neonatal period and responded to cholinergic agonists. In most of the affected patients, additional use of 3,4-diaminopyridine resulted in significant clinical benefit. The disease course is stable except for intermittent worsening.
Subject(s)
Cholinesterase Inhibitors/pharmacology , Disease Progression , Muscle Proteins/genetics , Myasthenic Syndromes, Congenital/genetics , Myasthenic Syndromes, Congenital/physiopathology , Potassium Channel Blockers/pharmacology , 4-Aminopyridine/administration & dosage , 4-Aminopyridine/analogs & derivatives , 4-Aminopyridine/pharmacology , Adolescent , Adult , Amifampridine , Child , Child, Preschool , Cholinesterase Inhibitors/administration & dosage , Female , Follow-Up Studies , Humans , Male , Middle Aged , Mutation , Myasthenic Syndromes, Congenital/drug therapy , Phenotype , Potassium Channel Blockers/administration & dosage , Pyridostigmine Bromide/administration & dosage , Pyridostigmine Bromide/pharmacology , Young AdultABSTRACT
Introducción. Las enfermedades neuromusculares hereditarias son trastornos heterogéneos en edad de inicio, clínica y gravedad. Muchas son graves, discapacitantes y con gran impacto personal, familiar y social, y pueden limitar el pronóstico vital. Se producen continuos avances diagnósticos que exigen una permanente actualización. Pacientes y métodos. Revisión de las enfermedades neuromusculares hereditarias de la base de datos de Neuropediatría del Hospital Miguel Servet de Zaragoza de mayo de 1990 a octubre de 2004. Resultados. De 7.805 pacientes de la base de datos figuran 123 casos (el 1,5% del total) con enfermedades neuromusculares hereditarias: 71 varones y 52 niñas. Son: 35 neuropatías hereditarias sensitivomotoras, 17 distrofinopatías, 10 distrofias miotónicas, 10 atrofias musculares espinales, cuatro distrofias congénitas deficientes en merosina, otras cuatro distrofias musculares, tres miopatías mitocondriales, tres miastenias, dos neuropatías familiares con insensibilidad al dolor, dos ataxias de Friedreich, una neuropatía familiar con parálisis sensibles a la presión, un síndrome de Walker-Warburg, cinco polineuropatías asociadas a leucodistrofia y otros 25 casos sin tipificar. Los estudios genéticos han sido diagnósticos en 36 casos (29,2%): nueve distrofias miotónicas, ocho distrofinopatías, ocho atrofias musculares espinales, cuatro neuropatías hereditarias sensitivomotoras desmielinizantes, dos ataxias de Friedreich, dos distrofias musculares de cintura, una miastenia congénita, una enfermedad de McArdle y un síndrome de Kearns-Sayre. Conclusiones. La genética establece diagnósticos que previamente sólo pueden ser de presunción, y permite evitar biopsias musculares, lo que es satisfactorio especialmente en niños. Es necesaria la actualización en los estudios inmunohistoquímicos y guardar sistemáticamente muestras biológicas en los casos sin diagnóstico (AU)
Introduction. Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. Patients and methods. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Results. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreichs ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreichs ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdles disease and one case of Kearns-Sayre syndrome. Conclusions. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached (AU)
Subject(s)
Child , Humans , Genetic Diseases, Inborn/diagnosis , Neuromuscular Diseases/epidemiology , Muscular Dystrophies , Friedreich Ataxia , Prenatal DiagnosisABSTRACT
INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.
Subject(s)
Genetic Diseases, Inborn , Neuromuscular Diseases/congenital , Child , Female , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/physiopathology , Humans , Male , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/genetics , Neuromuscular Diseases/physiopathology , Pediatrics , Retrospective StudiesABSTRACT
Introducción. La importancia de la fatiga en la esclerosis múltiple (EM) viene determinada por la elevada frecuencia con la que aparece y por ser una causa importante de incapacidad. Objetivo. Conocer los factores relacionados con la presencia de fatiga crónica en una serie hospitalaria de pacientes con EM. Pacientes y métodos. Se incluyeron pacientes con EM atendidos de forma consecutiva en la unidad de enfermedades desmielinizantes de un hospital terciario que cumplían los siguientes criterios: EM clínicamente definida (RR o SP), duración de la EM superior a 2 años y ausencia de recaídas en el último mes. Se analizaron las siguientes variables: fatiga crónica, datos demográficos generales, sistemas funcionales, EDSS, ISS, ESS, actividad de la enfermedad, escala de depresión de Hamilton, GHQ-28, índice de calidad de sueño de Pittsburg y tratamiento con interferón. Se llevó a cabo estudio estadístico utilizando análisis bivariante y multivariante mediante regresión logística. Resultados. La serie comprende 100 pacientes (72 mujeres y 28 varones). La edad media fue 39,27 años. Un 88 % de los casos tenían una EM RR y un 12 % EM SP. El tiempo medio de evolución fue 11,2 años. El EDSS medio fue de 2,54. Un 53 % de los casos presentó fatiga crónica. Las únicas variables que se asociaron de forma estadísticamente significativa con la presencia de fatiga crónica fueron la depresión y la disfunción del sueño diurna, de forma que la presencia de depresión multiplica por 3,6 la probabilidad de fatiga crónica y cada punto de más en el PSQI-7 la multiplica por 3,5. Conclusión. La depresión y la disfunción del sueño diurna son las únicas variables que se relacionan de forma independiente con la fatiga crónica entre los pacientes con EM
Introduction. The importance of fatigue in multiple sclerosis (MS) is determined by its high frequency and it is an important cause of disability. Objective. To determine factors that are related to the presence of chronic fatigue in patients with MS. Patients and methods. The series comprises patients with MS, consecutively attended in the demyelinizating diseases unit, who met the following criteria: clinically definite MS (RR or SP), MS duration of more than two years, and no relapses during the previous month. Analyzed variables were as follows: chronic fatigue, demographic data, functional systems, EDSS, ISS, ESS, disease activity, Hamilton, depression scale GHQ-28, PSQI, and interferon. Statistical study: bivariate and multivariate analysis by logistic regression. Results. A hundred patients were inclued, 72 female and 28 male. Mean age was 39.27 years. Of the 100 patients 88 had RR disease and 12 SP disease. MS mean duration was 11.2 years. Mean EDSS 2.54. Chronic fatigue was 53 %. The presence of depression increased the probability of chronic fatigue 3.6 fold, and every point in PSQI-7 increases it 3.5 fold. Conclusion. Depression and the PSQI-7 subscale (day sleep dysfunction) are the only variables independently related to chronic fatigue in patients with MS
Subject(s)
Male , Female , Adult , Aged , Adolescent , Middle Aged , Humans , Multiple Sclerosis/complications , Fatigue Syndrome, Chronic/complications , Disorders of Excessive Somnolence/epidemiology , Depression/epidemiology , Cross-Sectional StudiesABSTRACT
INTRODUCTION: The importance of fatigue in multiple sclerosis (MS) is determined by its high frequency and it is an important cause of disability. OBJECTIVE: To determine factors that are related to the presence of chronic fatigue in patients with MS. PATIENTS AND METHODS: The series comprises patients with MS, consecutively attended in the demyelinizating diseases unit, who met the following criteria: clinically definite MS (RR or SP), MS duration of more than two years, and no relapses during the previous month. Analyzed variables were as follows: chronic fatigue, demographic data, functional systems, EDSS, ISS, ESS, disease activity, Hamilton, depression scale GHQ-28, PSQI, and interferon. Statistical study: bivariate and multivariate analysis by logistic regression. RESULTS: A hundred patients were included, 72 female and 28 male. Mean age was 39.27 years. Of the 100 patients 88 had RR disease and 12 SP disease. MS mean duration was 11.2 years. Mean EDSS 2.54. Chronic fatigue was 53 %. The presence of depression increased the probability of chronic fatigue 3.6 fold, and every point in PSQI-7 increases it 3.5 fold. CONCLUSION: Depression and the PSQI-7 subscale (day sleep dysfunction) are the only variables independently related to chronic fatigue in patients with MS.
Subject(s)
Fatigue/etiology , Multiple Sclerosis/complications , Adult , Data Interpretation, Statistical , Depression/complications , Depression/etiology , Female , Humans , Male , Multiple Sclerosis/physiopathology , Multivariate Analysis , Prognosis , Sleep Wake Disorders/etiology , Statistics as TopicABSTRACT
INTRODUCTION: To determine the frequency of sleep disorders in multiple sclerosis (MS) patients and their relation with other manifestations of the disease. METHODS: Selected patients had clinically definite MS (relapsing-remitting and secondary progressive forms) and duration of the disease over two years. They were serially evaluated at the unit of demyelinating diseases of a third level hospital. The following scales were applied: the Pittsburgh Sleep Quality Index, the Hamilton Depression Rating Scale, EDSS, ISS and ESS. Statistical analysis by means of non parametric test and logistic regression was carried out. RESULTS: One hundred patients were included (72% women and 28% males). Mean age was 39 years. Eighty eight were relapsing-remitting forms and the rest secondary progressive forms. Mean EDSS was: 2.5. Mean duration of evolution: 11.2 years. The prevalence of sleep disorders was 36%. Age, sex, evolutionary form, degree of disability and chronic fatigue did not relate with the sleep disorders in these patients. In the multivariant analysis by means of logistic regression, we found that every point more in Hamilton's scale multiplies the probability of presenting sleep disorders by 1.2. CONCLUSIONS: Depression is the only variable that independently relates, with the presence of sleep disorders in MS patients.
