A Methodological Approach for Implementing an Integrated Multimorbidity Care Model: Results from the Pre-Implementation Stage of Joint Action CHRODIS-PLUS.

Patients with multimorbidity (defined as the co-occurrence of multiple chronic diseases) frequently experience fragmented care, which increases the risk of negative outcomes. A recently proposed Integrated Multimorbidity Care Model aims to overcome many issues related to fragmented care. In the context of Joint Action CHRODIS-PLUS, an implementation methodology was developed for the care model, which is being piloted in five sites. We aim to (1) explain the methodology used to implement the care model and (2) describe how the pilot sites have adapted and applied the proposed methodology. The model is being implemented in Spain (Andalusia and Aragon), Lithuania (Vilnius and Kaunas), and Italy (Rome). Local implementation working groups at each site adapted the model to local needs, goals, and resources using the same methodological steps: (1) Scope analysis; (2) situation analysis-"strengths, weaknesses, opportunities, threats" (SWOT) analysis; (3) development and improvement of implementation methodology; and (4) final development of an action plan. This common implementation strategy shows how care models can be adapted according to local and regional specificities. Analysis of the common key outcome indicators at the post-implementation phase will help to demonstrate the clinical effectiveness, as well as highlight any difficulties in adapting a common Integrated Multimorbidity Care Model in different countries and clinical settings.

Hereditary primary lateral sclerosis and progressive nonfluent aphasia.

OBJECTIVE: To report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia. PATIENTS AND METHODS: Six members from a kindred with 15 affected individuals spanning three generations, suffered from spasticity without muscle atrophy or fasciculation, starting in the lower limbs and spreading to the upper limbs and bulbar musculature, followed by effortful speech, nonfluent language and dementia, in 5 deceased members. Disease onset was during the sixth decade of life, or later. Cerebellar ataxia was the inaugural manifestation in two patients, and parkinsonism, in another. RESULTS: Neuropathological examination in two patients demonstrated degeneration of lateral corticospinal tracts in the spinal cord, without loss of spinal, brainstem, or cerebral motor neurons. Greater loss of corticospinal fibers at sacral and lumbar, rather than at cervical or medullary levels was demonstrated, supporting a central axonal dying-back pathogenic mechanism. Marked reduction of myelin and nerve fibers in the frontal lobes was also present. Argyrophilic grain disease and primary age-related tauopathy were found in one case each, and considered incidental findings. Genetic testing, including exome sequencing aimed at PLS, ataxia, hereditary spastic paraplegia, and frontotemporal lobe dementia, triplet-repeated primed polymerase chain reaction aimed at dominant spinocerebellar ataxias, and massive sequencing of the human genome, yielded negative results. CONCLUSION: A central distal axonopathy affecting the corticospinal tract, exerted a pathogenic role in the dominantly inherited PLS-progressive nonfluent aphasia association, described herein. Further molecular studies are needed to identify the causative mutation in this disease.

Estado actual de los síndromes miasténicos congénitos / Current status of congenital myasthenic syndromes

Desde la descripción de Engel del primer caso de miastenia congénita en 1977 y el hallazgo en 1995 del primer gen patógeno, el conocimiento de los síndromes miasténicos congénitos se ha ido desarrollando, y se han descrito la base patógena, sus características clínicas, las correlaciones fenotipo-genotipo establecidas y su abordaje terapéutico. En este grupo de enfermedades se altera el margen de seguridad de la transmisión neuromuscular por distintos mecanismos: en la síntesis o almacenamiento de los quantum de acetilcolina en las vesículas sinápticas, en la liberación de acetilcolina en el nervio terminal mediada por calcio o en la eficiencia de la cuanta liberada para generar una despolarización postsináptica. Su conocimiento ha permitido establecer distintas estrategias terapéuticas. En esta revisión se describen las principales actualizaciones de estos síndromes: los genes descritos que clasifican un 50% de los casos, su clasificación actual basándose en la localización de las proteínas que alteran la transmisión neuromuscular, incluyendo un nuevo grupo de miastenias congénitas, los trastornos de la glicosilación, las principales claves diagnósticas y el abordaje terapéutico de este grupo de pacientes infradiagnosticados (AU)

Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation. Increased knowledge about them has enabled a number of different therapeutic strategies to be established. In this review the main updates on these syndromes are reported, including: the genes described as classifying 50% of cases, their current classification based on the localisation of the proteins that alter neuromuscular transmission, including a new group of congenital myasthenias, glycosylation disorders, the main key diagnoses and the therapeutic management of this group of under-diagnosed patients (AU)

Respuesta: Supervivencia de la parada cardiorrespiratoria hospitalaria / Author’s reply: Survival from in-hospital cardiac arrest

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[Do not resuscitate orders in patients with acute stroke. What circumstances decide their use?]. / Factores determinantes en la aplicación de las órdenes de no reanimación en el ictus.

BACKGROUND: Patients with acute stroke are known to have a poor prognosis after cardiopulmonary resuscitation manoeuvres (CPR), and their application should be revisited in these patients. Although clinical criteria for a 'do not resuscitate order' (DNR) are available in some countries, studies about DNR in stroke are lacking in Spain. The purpose of this study was to evaluate the frequency of DNR orders in patients with acute stroke and to identify factors influencing decision-making in them. PATIENTS AND METHOD: All patients with acute stroke who had cardiac and pulmonary arrest were prospectively included in the study during one year. Clinical and demographic data of patients and data related to doctors were recorded and analysed. RESULTS: 165 patients had a cardiac and pulmonary arrest and 17 (10%) of them had had a DNR order. No factor was significantly associated with DNR decision-making. CONCLUSIONS: DNR orders were scarcely applied and explicit clinical criteria for their application were lacking. It is necessary to implement DNR policies in Spain in order to improve the use of CPR manoeuvres in patients with acute stroke.

Factores determinantes en la aplicación de las órdenes de no reanimación en el ictus / Do not resuscitate orders in patients with acute stroke. What circumstances decide their use?

FUNDAMENTO: El ictus es uno de los procesos con peores resultados tras una reanimación cardiopulmonar, por lo que la aplicación de una orden de no reanimación (ONR) es una práctica que debería considerarse en todo paciente con ictus agudo. Aunque hay algún trabajo sobre cuándo indicar una ONR en los pacientes con ictus, en España no se conoce la incidencia de las ONR ni los factores que influyen en la toma de decisión. El objetivo de nuestro estudio fue conocer la frecuencia y los determinantes con los que se establecen las ONR a los pacientes con ictus en nuestro medio. PACIENTES Y MÉTODO: Estudio prospectivo de los pacientes con ictus agudo que sufren una parada cardiorrespiratoria (PCR) durante su ingreso en un hospital terciario en el período 1996-1997. Se analizó la influencia de una serie de variables técnicas (nivel de conciencia, situación clínica, tipo y gravedad del ictus, comorbilidad significativa, daño cerebral amenazante) y otras no estrictamente técnicas (edad, sexo, capacidad de comunicación del paciente y ubicación de éste durante el ingreso) sobre la decisión de ONR. RESULTADOS: Sufrieron una PCR 165 pacientes. Un 10 por ciento había recibido una ONR. Ninguna variable influyó de forma significativa sobre la decisión de ONR. CONCLUSIONES: La incidencia de aplicación de ONR en nuestro ámbito es escasa y se aplica sin criterios explícitos. Es necesaria la implantación de políticas hospitalarias de ONR en España, para mejorar el uso de las maniobras de reanimación cardiopulmonar (AU)