Stroke treatment outcomes in hospitals with and without Stroke Units. / Resultados en el tratamiento del ictus en hospitales con y sin Unidad de Ictus.

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.

Molecular characterization of congenital myasthenic syndromes in Spain.

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.

[Auditing as a tool for ongoing improvement in the Stroke Care Plan of the Region of Aragon]. / El audit como herramienta de mejora continua en el Plan de Atencion al Ictus de Aragon.

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.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

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.

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]. / Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años.

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.

[Importance and factors related to chronic fatigue in multiple sclerosis]. / Importancia y factores relacionados con la fatiga crónica en la esclerosis múltiple.

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.

[Sleep disorders in multiple sclerosis]. / Trastornos del sueño en la esclerosis múltiple.

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.

[Reasons for requesting neuroimaging studies in the evaluation of primary headache]. / Motivos de solicitud de neuroimagen en las cefaleas primarias.

INTRODUCTION: There is some controversy concerning the need to perform neuroimaging studies in patient complaining of headache. 90% of the people had a complaint of headache during their life, and it is impossible to perform neuroimaging studies in all of them. OBJECTIVE: The aim of this study is knowing the reasons for indications neuroimaging studies in the evaluation of primary headaches and the effectiveness at the diagnosis. PATIENTS AND METHODS: The clinical records of patients who a neuroimaging study was performed for headache during 1998 were retrospectively studied. We analysed in all patients: the age, sex, diagnosis of headache, suspicion of diagnosis, reason and time for indication the neuroimaging study, and if the study modified the diagnosis. RESULTS: During 1998, were performed 107 neuroimaging studies in 96 patients. The mean age were 38 years. 60% were females. The suspicion of diagnosis was primary headache in 71% patients. Only one patient had an abnormality. The reasons for applying a neuroimaging study were: in 20 of the patients the migraine was more frequent and they didn t relieve with abortive drugs, in 20 there was a migraine aura, in 11 because the migraine turned to daily headache, in 17 the family asked for a neuroimaging study, there was a 17 of patients seemed to have an organic disease, in 2 the headache appeared daily, and in 7 of the cases weren't any reasons. CONCLUSIONS: Headache is the most frequent reason for asking a neuroimaging study. Primary headache is the type of headache that justifies most of indications. The most frequent reasons for performing a study were common changes in characteristics of migraine.