RESUMEN
Pop-up libraries have been a trending form of outreach by public and academic libraries during recent years but they are still a novel concept in clinical and hospital settings. Engaging with healthcare staff in common spaces with an inviting temporary display provides an opportunity to proactively raise awareness of library resources and services to non-library users while also piquing interest in a timely topic or special theme. Mayo Clinic librarians describe how a pop-up library was implemented as a unique form of outreach at the Rochester, Minnesota campus in early 2020.
Asunto(s)
Centros de Información/organización & administración , Centros de Información/estadística & datos numéricos , Bibliotecas de Hospitales/organización & administración , Bibliotecas de Hospitales/estadística & datos numéricos , Bibliotecas Médicas/organización & administración , Bibliotecas Médicas/estadística & datos numéricos , Servicios de Biblioteca/organización & administración , Servicios de Biblioteca/estadística & datos numéricos , Humanos , MinnesotaRESUMEN
The Question-Answer (Q/R) service of Lyon's teaching hospital, offers reliable and updated information for healthcare professionals (HP). The impact of Q/R activity on patient outcome was measured by using a survey to assess user's satisfaction and impact on HP knowledge and/or patients cares. The compatibility of this tool with daily use had been assessed too. MATERIALS AND METHODS: The survey was sent prospectively, for 9 months in 2018, to all HP whose enquiry was linked to a particular patient's care. The survey was posted 24-48h after the answer had been provided. RESULTS: 41 survey over 55 sent were returned (74.5%). The level of satisfaction measured is mostly good or excellent on all evaluated items. The HP surveyed consider that the responses provided have a potential positive impact on their professional knowledge and practices (97.6%), on the patient's care (n=36/37) and patient outcome (n=22/23). CONCLUSION: High level of satisfaction with the Q/R service and positive impact of this specialized Q/R service on improvement of HP knowledge and patient's care. This tool can be used in daily practice.
Asunto(s)
Centros de Información/organización & administración , Servicios de Información/organización & administración , Atención al Paciente , Comportamiento del Consumidor , Francia , Conocimientos, Actitudes y Práctica en Salud , Humanos , Estudios Prospectivos , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
When Preston Medical Library moved inside the Medical Center in September 2014, the new patient library, called the Health Information Center (HIC), was added. This addition is a patient focused, consumer health library that, among other things, offers health information and books. After the initial marketing plan was implemented, a task force was created to focus specifically on marketing the consumer health library and its resources. This article discusses how the task force revamped the marketing strategy to include outreach into the medical center's waiting rooms and other opportunities for collaboration.
Asunto(s)
Centros de Información/organización & administración , Bibliotecas Médicas/organización & administración , Mercadotecnía/organización & administración , Humanos , Estudios de Casos Organizacionales , TennesseeRESUMEN
INTRODUCTION: In 2015, the US Alzheimer's Disease Centers (ADC) implemented Version 3 of the Uniform Data Set (UDS). This paper describes the history of Version 3 development and the UDS data that are freely available to researchers. METHODS: UDS Version 3 was developed after years of coordination between the National Institute on Aging-appointed Clinical Task Force (CTF), clinicians from â¼30 ADCs, and the National Alzheimer's Coordinating Center (NACC). The CTF recognized the need for updates to align with the state of the science in dementia research, while being flexible to the diverse needs and diseases studied at the ADCs. Version 3 also developed a nonproprietary neuropsychological battery. RESULTS: This paper focuses on the substantial Version 3 changes to the UDS forms related to clinical diagnosis and characterization of clinical symptoms to match updated consensus-based diagnostic criteria. Between March 2015 and March 2018, 4820 participants were enrolled using UDS Version 3. Longitudinal data were available for 25,337 of the 37,568 total participants using all UDS versions. DISCUSSION: The results from utilization of the UDS highlight the possibility for numerous research institutions to successfully collaborate, produce, and use standardized data collection instruments for over a decade.
Asunto(s)
Enfermedad de Alzheimer/diagnóstico , Bases de Datos Factuales/normas , Pruebas Neuropsicológicas/normas , Anciano , Consenso , Femenino , Humanos , Centros de Información/organización & administración , Masculino , Persona de Mediana Edad , Estados UnidosRESUMEN
INTRODUCTION: A survey of drug information specialists from academic drug information centers in the United States was conducted to identify faculty workload, operational characteristics of the center, and contribution of those faculty and centers to pharmacy education. METHODS: A 32-item survey was administered to drug information specialists and pharmacy college/school deans. Faculty workload items included age, credentials, training, and responsibilities. Center operational items identified clients, number of requests, staffing structure, and funding source. Pharmacy education items included number and type of students training at the center as well as drug information's role in the curriculum. Participants were also asked to identify recent and anticipated changes as well as predict future challenges for academic drug information centers. RESULTS: The survey achieved a response rate of 81% from eligible institutions. The typical drug information specialist is between 31 and 50 years old, in a clinical track faculty position, and has an average of 13 years of drug information experience. Academic drug information centers are generally funded by the institution, open five days a week, and serve a variety of clients including the lay public. The average drug information specialist teaches one didactic course and is a preceptor for 17 advanced practice experience students, and 15 introductory practice experience students. CONCLUSIONS: Drug information specialists and centers play an important role in pharmacy education. Results of this survey could assist in the creation of benchmarks for academic drug information faculty and centers in terms of workload, resource allocation, and promotion.
Asunto(s)
Docentes de Farmacia/psicología , Centros de Información/tendencias , Medicamentos bajo Prescripción/uso terapéutico , Carga de Trabajo/normas , Adulto , Curriculum/normas , Educación en Farmacia/métodos , Educación en Farmacia/normas , Femenino , Humanos , Centros de Información/organización & administración , Kentucky , Masculino , Persona de Mediana Edad , Medicamentos bajo Prescripción/farmacología , Encuestas y Cuestionarios , Carga de Trabajo/psicologíaRESUMEN
OBJECTIVE: The aim of this study is to determine the period prevalence, nature and causes of workplace chemical and toxin exposures reported to the Victorian Poisons Information Centre (VPIC). PATIENTS AND METHODS: All cases classified as 'workplace: acute' when entered into the VPIC database (June 2005-December 2013) were analysed. Data were collected on patient sex, the nature of the chemical or toxin, route of exposure and season. RESULTS: Overall, 4928 cases were extracted. Exposures to men (71.5% of calls) differed from women (P<0.001), with most exposures relating to industry/trade substances (23.7%) and cleaners/bleaches/detergents (36.9%), respectively. Ocular (33.2%), inhalational (27.7%) and dermal (22.1%) exposures were most common. Exposures were most common in Spring and most seasonal variation was found for veterinary/animal, agricultural/plant and household categories (P<0.05). In all, 3445 (69.9%) cases had symptoms related to their exposure at the time of the call. However, the proportion of symptomatic cases within the major substance categories differed significantly (P<0.001). Chemicals associated with the most symptoms were cleaners/bleaches/detergents, industrial/trade substances and acids. CONCLUSION: Mild-moderately important workplace exposures are common. Significant variations exist between the sexes and seasons. Poisons Information Centres may play a role in ongoing surveillance of chemical and toxin exposures and a minimum exposure dataset is recommended.
Asunto(s)
Monitoreo del Ambiente/métodos , Centros de Información/organización & administración , Exposición Profesional/estadística & datos numéricos , Centros de Control de Intoxicaciones/normas , Lugar de Trabajo/estadística & datos numéricos , Femenino , Humanos , Masculino , Intoxicación/epidemiologíaAsunto(s)
Centros de Información/organización & administración , Embarazo no Planeado , Educación Sexual/organización & administración , Adulto , Femenino , Humanos , Anticoncepción Reversible de Larga Duración/métodos , North Carolina , Embarazo , Asociación entre el Sector Público-Privado , Movilidad Social , Factores SocioeconómicosRESUMEN
PURPOSE: The aims of this study were to assess the quality of responses produced by drug information centers (DICs) in Scandinavia, and to study the association between time consumption processing queries and the quality of the responses. METHODS: We posed six identical drug-related queries to seven DICs in Scandinavia, and the time consumption required for processing them was estimated. Clinical pharmacologists (internal experts) and general practitioners (external experts) reviewed responses individually. We used mixed model linear regression analyses to study the associations between time consumption on one hand and the summarized quality scores and the overall impression of the responses on the other hand. FINDINGS: Both expert groups generally assessed the quality of the responses as "satisfactory" to "good." A few responses were criticized for being poorly synthesized and less relevant, of which none were quality-assured using co-signatures. For external experts, an increase in time consumption was statistically significantly associated with a decrease in common quality score (change in score, -0.20 per hour of work; 95% CI, -0.33 to -0.06; P = 0.004), and overall impression (change in score, -0.05 per hour of work; 95% CI, -0.08 to -0.01; P = 0.005). No such associations were found for the internal experts' assessment. IMPLICATIONS: To our knowledge, this is the first study of the association between time consumption and quality of responses to drug-related queries in DICs. The quality of responses were in general good, but time consumption and quality were only weakly associated in this setting.
Asunto(s)
Servicios de Información sobre Medicamentos/organización & administración , Centros de Información/organización & administración , Países Escandinavos y Nórdicos , Factores de TiempoAsunto(s)
Hospitales Especializados , Centros de Información , Enfermedades Neuromusculares , Enfermedades Raras , Región del Caribe , Conducta Cooperativa , Bases de Datos Factuales , Hospitales Especializados/organización & administración , Hospitales Universitarios/organización & administración , Humanos , Centros de Información/organización & administración , Comunicación Interdisciplinaria , Cooperación Internacional , Laboratorios de Hospital/organización & administración , Martinica , Medicina , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/genética , Enfermedades del Sistema Nervioso/patología , Enfermedades del Sistema Nervioso/rehabilitación , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/epidemiología , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/patología , Enfermedades Neuromusculares/rehabilitación , InvestigaciónRESUMEN
Proponer pautas para identificar el capital cultural en las entidades de información. Métodos: se realizó un estudio de tipo descriptivo. Se utilizaron el análisis documental clásico y las entrevistas a través de las variables clima social, lazos de confianza, canales de comunicación, compromiso y sentido de pertenencia, condiciones de trabajo, competencias laborales, cultura organizacional, valores culturales, satisfacción, experiencia y liderazgo. Se mostraron las definiciones, perspectivas y elementos del capital cultural y se demostró su importancia en las entidades de información. Se realizó un análisis de las dimensiones que conforman el capital cultural. Se expusieron variables tales como actitudes, valores, aptitudes, capacidades, aprendizaje y cultura organizacional, que se operacionalizaron en indicadores e ítems donde se tomó como base de estudio el modelo Intellectus y los modos de identificar el capital cultural en entidades educativas y culturales. Resultados: el capital cultural se identificó a partir de elementos que tenían un carácter multidimensional y que se encontraban estrechamente relacionados. Las tres dimensiones que como aspectos esenciales del capital cultural influyeron en su creación y transmisión fueron la dimensión cognitiva, la dimensión estructural y la dimensión relacional. Estas tres dimensiones se interrelacionaron entre sí, lo que hizo posible que el capital cultural se generara, se desarrollara y se transmitiera a todos los niveles de la organización, tributando a mejorar las decisiones desde el punto de vista gerencial. Conclusión: el capital cultural se impuso como un elemento indispensable que marcó una diferencia entre las organizaciones a partir de las características de sus individuos...
Propose guidelines to identify cultural capital in information institutions. Methods: a descriptive study was conducted. Classic document analysis was used, as well as interviews based on the variables social climate, confidence ties, communication channels, commitment and sense of belonging, work conditions, work competences, organizational culture, cultural values, satisfaction, experience and leadership. Cultural capital definitions, perspectives and component elements were presented, as well as their importance for information institutions. An analysis was conducted of the dimensions of cultural capital. Variables such as attitudes, values, aptitudes, capacities, learning and organizational culture were operationalized through indicators and headings based on the Intellectus model and identification modes for cultural capital in educational and cultural institutions. Results: cultural capital was identified on the basis of multidimensional, closely interrelated elements. The cognitive dimension, the structural dimension and the relational dimension were found to play an essential role in the creation and transmission of cultural capital. These three dimensions were closely interrelated, making it possible for cultural capital to be generated, developed and transmitted to all levels in the organization, contributing to improve management decisions. Conclusions: cultural capital was found to be a crucial element in organizations, differentiating them on the basis of the characteristics of their members...
Asunto(s)
Humanos , Centros de Información/organización & administración , Competencia Cultural/organización & administración , Cultura Organizacional , Epidemiología DescriptivaRESUMEN
Objetivo: proponer pautas para identificar el capital cultural en las entidades de información. Métodos: se realizó un estudio de tipo descriptivo. Se utilizaron el análisis documental clásico y las entrevistas a través de las variables clima social, lazos de confianza, canales de comunicación, compromiso y sentido de pertenencia, condiciones de trabajo, competencias laborales, cultura organizacional, valores culturales, satisfacción, experiencia y liderazgo. Se mostraron las definiciones, perspectivas y elementos del capital cultural y se demostró su importancia en las entidades de información. Se realizó un análisis de las dimensiones que conforman el capital cultural. Se expusieron variables tales como actitudes, valores, aptitudes, capacidades, aprendizaje y cultura organizacional, que se operacionalizaron en indicadores e ítems donde se tomó como base de estudio el modelo Intellectus y los modos de identificar el capital cultural en entidades educativas y culturales. Resultados: el capital cultural se identificó a partir de elementos que tenían un carácter multidimensional y que se encontraban estrechamente relacionados. Las tres dimensiones que como aspectos esenciales del capital cultural influyeron en su creación y transmisión fueron la dimensión cognitiva, la dimensión estructural y la dimensión relacional. Estas tres dimensiones se interrelacionaron entre sí, lo que hizo posible que el capital cultural se generara, se desarrollara y se transmitiera a todos los niveles de la organización, tributando a mejorar las decisiones desde el punto de vista gerencial. Conclusión: el capital cultural se impuso como un elemento indispensable que marcó una diferencia entre las organizaciones a partir de las características de sus individuos(AU)
Objective: propose guidelines to identify cultural capital in information institutions. Methods: a descriptive study was conducted. Classic document analysis was used, as well as interviews based on the variables social climate, confidence ties, communication channels, commitment and sense of belonging, work conditions, work competences, organizational culture, cultural values, satisfaction, experience and leadership. Cultural capital definitions, perspectives and component elements were presented, as well as their importance for information institutions. An analysis was conducted of the dimensions of cultural capital. Variables such as attitudes, values, aptitudes, capacities, learning and organizational culture were operationalized through indicators and headings based on the Intellectus model and identification modes for cultural capital in educational and cultural institutions. Results: cultural capital was identified on the basis of multidimensional, closely interrelated elements. The cognitive dimension, the structural dimension and the relational dimension were found to play an essential role in the creation and transmission of cultural capital. These three dimensions were closely interrelated, making it possible for cultural capital to be generated, developed and transmitted to all levels in the organization, contributing to improve management decisions. Conclusions: cultural capital was found to be a crucial element in organizations, differentiating them on the basis of the characteristics of their members(AU)
Asunto(s)
Competencia Cultural/organización & administración , Centros de Información/organización & administración , Cultura Organizacional , Epidemiología DescriptivaRESUMEN
The National Resource Center on LGBT Aging was created in 2010 by Services & Advocacy for Gay, Lesbian, Bisexual and Transgender Elders (SAGE) with seed funding from the US Department of Health and Human Services. Three years into the project, thousands of aging and LGBT service providers have been reached with training and technical assistance; however, a great need, especially for cultural competency training, remains.
Asunto(s)
Bisexualidad , Homosexualidad Femenina , Homosexualidad Masculina , Servicio Social/educación , Personas Transgénero , Anciano , Competencia Cultural , Femenino , Humanos , Centros de Información/organización & administración , Masculino , Estados UnidosRESUMEN
PURPOSE: To describe the development of a web-based high-quality data collection tool to track the outcomes of treatment of macular disease in routine practice. METHODS: Testing of a larger data collection tool established which fields a clinician would reliably fill out. The program, which was developed using freely available software, consists of modules interacting with a core system. The module for neovascular age-related macular degeneration is described here. RESULTS: Data for initial visits can be entered within 30 seconds, 15 seconds for follow-up visits. Fifteen centers from Australia, New Zealand, and Switzerland are currently contributing data. Finalized data from 2,052 eyes of 1,693 participants dating from January 2006 were analyzed. Median (25th and 75th percentiles) visual acuity at the index visit was 55 (41, 68) logarithm of the minimum angle of resolution letters with the following lesion types: minimally classic 17.2%, predominantly classic 24.6%, occult 52.0%, idiopathic polypoidal choroidal vasculopathy 1.2%, and retinal angiomatous proliferation 3.2%. CONCLUSION: This software tool will facilitate the collection of large amounts of data on the routine use of treatments of neovascular age-related macular degeneration. This will allow us to analyze important potentially modifiable variables, such as the effect of different treatment patterns on visual outcomes, and to evaluate new treatments as they are introduced into practice.
Asunto(s)
Ceguera/prevención & control , Recolección de Datos/métodos , Centros de Información/organización & administración , Sistemas en Línea , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Garantía de la Calidad de Atención de Salud , Sistema de Registros , Programas Informáticos , Resultado del Tratamiento , Agudeza Visual/fisiología , Degeneración Macular Húmeda/fisiopatologíaRESUMEN
The Inail data show that in the last years the complaints and acknowledgments of occupational diseases has been increasing, in contrast what happened previously. This growth is the expected and desired emergence of work- related diseases and it's also an alarm bell that the institutions can not ignore. In addition to the data provided by INAIL, the MalProf system gives an important contribution to tlhe understanding of occupational diseases. MalProf is a system for recording and analysis of reported occupational diseases using the source information provided by Service Prevention of ASL. The model used by the Surveillance System MALPROF, by combines the information in a consistent and standardized, assesses the relevance of a causal link between the disease and reports the activity carried out by the worker during his professional history. The two systems (INAIL database and MALPROF), although with some differences have largely confirmed the same data. The past decade has marked the final decline of the working traditional occupational diseases (respiratory toxic substance related diseases and by the accumulation of poisoning, skin, etc....); the hearing loss is still frequent but less important than it was in the past relevance. Tumors and, in particular, musculoskeletal disorders, have been emerging as one of the hidden problems before tumors but, above all, appeared on the scene and the group of musculoskeletal disorders. As indicated by the National Plan for the preventive actions should be directed in several directions: active surveillance, training of the subjects of prevention and other figures, the promotion of the quality of the risk assessment documents.
Asunto(s)
Bases de Datos Factuales , Planificación en Salud/organización & administración , Centros de Información/organización & administración , Enfermedades Profesionales/prevención & control , Vigilancia de la Población , Medicina Preventiva/organización & administración , Servicios de Salud Comunitaria/organización & administración , Agencias Gubernamentales/organización & administración , Pérdida Auditiva/epidemiología , Pérdida Auditiva/prevención & control , Humanos , Italia/epidemiología , Modelos Teóricos , Enfermedades Musculoesqueléticas/epidemiología , Enfermedades Musculoesqueléticas/prevención & control , Programas Nacionales de Salud/organización & administración , Neoplasias/epidemiología , Neoplasias/prevención & control , Enfermedades Profesionales/epidemiología , Enfermedades Profesionales/etiología , Regionalización/organización & administración , Indemnización para Trabajadores/organización & administraciónRESUMEN
BACKGROUND: Since ancient times poisoning has been treated medicinally. Clinical toxicology, in the narrow sense of the term, developed from the foundation of specialized medical treatment units for poisoning and the formation of the first poison information centers in the second half of the twentieth century. Historically, the first poison information centers were often localized at pediatric clinics or departments of internal medicine. It became increasingly more obvious that this pooling of competences made sense. AIM: This article gives a general introduction in clinical toxicology and presents the functions and key activities of emergency poison centers. MATERIAL AND METHODS: The organisation and work of a poisons centre is demonstrated on the basis of the Poisons Information Center (GIZ) North annual report for 2011. In a short summary the basic principles of clinical toxicology are elucidated: the primary removal of poisons by gastric lavage and administration of activated charcoal, secondary removal of poisons by enhanced elimination using hemodialysis, hemoperfusion, multi-dose activated charcoal and molecular adsorbent recirculating systems (MARS) and the indications for administration of specific antidotes or antivenins (antisera against poisoning by poisonous animals). RESULTS: Gastric lavage is indicated within 1 h after ingestion of a potentially life-threatening dose of a poison. In cases of poisoning with substances which penetrate the central nervous system (CNS) gastric lavage should be performed only after endotracheal intubation due to the risk of aspiration. The basic management of poisoned patients by emergency medicine personnel out of hospital and on the way to hospital is presented. The Bremen list, a compilation of the five antidotes, atropine, 4-dimethylaminophenol (4-DMAP), tolonium chloride, naloxone and activated charcoal for out of hospital treatment by emergency doctors is presented. CONCLUSION: In all, even questionable cases of poisoning consultation at emergency poison centers is recommended. An extensive list of all German speaking poison information centers is available on the homepage of GIZ-Nord (http://www.giz-nord.de).
Asunto(s)
Antídotos/uso terapéutico , Carbón Orgánico/uso terapéutico , Cocaína/envenenamiento , Centros de Información/organización & administración , Centros de Control de Intoxicaciones/organización & administración , Mordeduras de Serpientes/terapia , Animales , Crotalus , Medicina de Emergencia , Medicina Basada en la Evidencia , Alemania , Hemoperfusión , Humanos , Sueros Inmunes , Intubación Intratraqueal , Diálisis Renal , Venenos de Serpiente/antagonistas & inhibidores , Irrigación Terapéutica , ToxicologíaRESUMEN
Data warehouse projects are perceived to be risky and prone to failure due to many organizational and technical challenges. However, often iterative and lengthy processes of implementation of data warehouses at an enterprise level provide an opportunity for formative evaluation of these solutions. This paper describes lessons learned from successful development and implementation of the first phase of an enterprise data warehouse to support public health surveillance at British Columbia Centre for Disease Control. Iterative and prototyping approach to development, overcoming technical challenges of extraction and integration of data from large scale clinical and ancillary systems, a novel approach to record linkage, flexible and reusable modeling of clinical data, and securing senior management support at the right time were the main factors that contributed to the success of the data warehousing project.
Asunto(s)
Enfermedades Transmisibles/epidemiología , Sistemas de Administración de Bases de Datos/organización & administración , Bases de Datos Factuales , Registros Electrónicos de Salud/organización & administración , Centros de Información/organización & administración , Registro Médico Coordinado/métodos , Informática en Salud Pública/organización & administración , Colombia Británica , Documentación/métodos , Almacenamiento y Recuperación de la Información/métodos , Vigilancia de la Población , Integración de SistemasRESUMEN
Chronic immune-mediated neuropathies represent a heterogeneous group of mostly demyelinating neuropathies thought to be caused by an autoimmune response to peripheral nerve antigens. They include chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related variants, multifocal motor neuropathy (MMN) and neuropathy associated with an IgM monoclonal gammopathy with antibody activity against myelin-associated glycoprotein (MAG). Most of these neuropathies respond to immune therapy even though their response to therapy may be different, thereby confirming that their distinct characteristics have relevant clinical implications. While clinicians and scientists are intrigued by the desire to better clarify the cause and pathogenesis of these disorders, the need to allow affected patients to be reimbursed by insurance companies or the national health system can lead to the risk of lumping all these neuropathies under the umbrella term of 'CIDP' to facilitate patients' access to costly therapies.
Asunto(s)
Enfermedades del Sistema Inmune/terapia , Centros de Información/organización & administración , Enfermedades del Sistema Nervioso/terapia , Enfermedades Raras/terapia , Enfermedades Desmielinizantes/terapia , Neuropatía Hereditaria Motora y Sensorial/terapia , Humanos , Enfermedades del Sistema Inmune/diagnóstico , Italia , Glicoproteína Asociada a Mielina/inmunología , Enfermedades del Sistema Nervioso/diagnóstico , Paraproteinemias/inmunología , Paraproteinemias/terapia , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/terapia , Mecanismo de ReembolsoRESUMEN
Narcolepsy (with or without cataplexy), idiopathic hypersomnia (with or without long sleep duration) and Kleine - Levin syndrome are the main central rare hypersomnias. They may be considered models to help us to better understand the mechanisms controlling sleep and waking regulation in humans. When creating the national centers for rare hypersomnias, the aims were: 1) screening and earlier treatment of patients with hypersomnia; 2) improving patient care with guidelines, a specific patient's card, coordination of treatments between centers and professionals, and the development of new treatments; 3) encouraging research studies into the epidemiology, pathophysiology and genotype/phenotype through the creation of clinical, DNA, sera and cerebrospinal fluid banks; 4) increasing public awareness among patients and their relatives, the general public and in the mass media of rare hypersomnias; and 5) regular evaluation of our activities. These goals appear to have been achieved over the past 5 years. However, there are now financial difficulties to be faced, given the increasing demands of patients and professionals while having to stay within the same limited budgets.
Asunto(s)
Trastornos de Somnolencia Excesiva/terapia , Centros de Información/organización & administración , Enfermedades del Sistema Nervioso/terapia , Enfermedades Raras/terapia , Diagnóstico Diferencial , Francia , Personal de Salud , Humanos , Síndrome de Kleine-Levin/diagnóstico , Síndrome de Kleine-Levin/terapia , Narcolepsia/terapia , Educación del Paciente como AsuntoRESUMEN
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Network: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to therapy, especially for CMS that do not respond to cholinesterase inhibitors. CMS diagnosis is late in most cases because of confusion with other entities such as: congenital myopathies, due to the frequent presentation in patients of myopathies such as permanent muscle weakness, atrophy and scoliosis, and the abnormalities of internal structure, diameter and distribution of fibers (type I predominance, type II atrophy) seen on biopsy; seronegative autoimmune myasthenia gravis, when CMS is of late onset; and metabolic myopathy, with the presence of lipidosis in muscle. The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK. Disease-course patterns (progressive worsening, exacerbation, stability, improvement) could be variable throughout life in a given patient. DOK7 patients had the most severe disease course with progressive worsening: of the eight wheelchair-bound and ventilated patients, six had mutations of this gene. Pregnancy was a frequent cause of exacerbation. Anticholinesterase agents are the first-line therapy for CMS patients, except for cases of slow-channel CMS, COLQ and DOK7. In our experience, 3,4-DAP was a useful complement for several patients harboring CMS with AChR loss or RAPSN gene mutations. Ephedrine was given to 18 patients (eight DOK7, five COLQ, four AGRN and one RAPSN). Tolerability was good. Therapeutic responses were encouraging even in the most severely affected patients, particularly with DOK7 and COLQ. Salbutamol was a good alternative in one patient who was allergic to ephedrine.