A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.

BACKGROUND AND PURPOSE: We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer's disease and spastic paraparesis. METHODS AND RESULTS: The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene. CONCLUSIONS: Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.

Parálisis de las cuerdas vocales como presentación inicial de una miastenia grave / Paralysis of the vocal cords as the presenting symptom of myasthenia gravis

No disponible

No disponible

[The prevalence of dementia and its main subtypes in subjects older than 65 years: impact of occupation and education. The Toledo Study]. / Prevalencia de demencia y de sus subtipos principales en sujetos mayores de 65 años: efecto de la educación y ocupación. Estudio Toledo.

BACKGROUND: To assess the prevalence of dementia and its subtypes in a population with a low level of education, and to determine whether there is any association between occupation, education and dementia. SUBJECTS AND METHOD: Cross-section study of the population, with a sample of 3,214 individuals representative of the population of Toledo, Spain, aged 65 years and older. The Mini-Mental State Examination (MMSE) was used in the first phase of the study to detect those individuals with cognitive deterioration. The second phase consisted of a semi-structured clinical interview and neuropsychological evaluation. Dementia and sub-types of dementia were determined using well-established diagnostic criteria. The process was applied using an algorithm to optimise diagnostic agreement. RESULTS: The overall prevalence of dementia, Alzheimer's disease and vascular dementia amounted to 7.6, 4.6 and 1.8%, respectively. A direct relationship was detected between these three entities and age. The prevalence of dementia was greater in women, illiterate persons and occupations which require less skill. Once adjustment had been made for other socio-demographic variables, only age was associated with the presence of dementia. CONCLUSIONS: The overall prevalence of dementia, Alzheimer's type dementia and vascular dementia increases with age. No clear association was found between education, occupation and dementia.

Factores de riesgo de ingreso hospitalario en mayores de 64 años / Risk factors for hospitalization among the elderly

Objetivo: Determinar los factores asociados al ingreso hospitalario en una muestra representativa de la población mayor de 64 años. Diseño y participantes: Estudio de cohorte sobre una muestra de 3.214 sujetos representativa de la población de 65 y más años del partido judicial de Toledo (Castilla-La Mancha).Método: Entrevista personal en el domicilio del sujeto donde se recogen: datos sociodemográficos, carga de enfermedad, situación funcional en actividades de autocuidado e instrumentales, presencia de deterioro cognitivo y trastorno del ánimo, salud autopercibida y utilización previa de recursos sanitarios. Se analiza la presencia de ingreso hospitalario en los 12 meses que siguen a la entrevista en cualquiera de los tres hospitales que atienden el mencionado área. Resultados: 342 (10,6 por ciento) de los sujetos ingresaron en una ocasión al menos en el año siguiente a la realización de la entrevista. En el modelo logístico resultaron factores de riesgo de ingreso hospitalario: la edad avanzada (OR: 1,02), el sexo masculino (OR: 1,37), la presencia de cardiopatía (OR: 1,97) o broncopatía (OR: 1,57), el déficit visual incapacitante (OR: 1,88), la pobre salud autopercibida (OR: 1,37), la dependencia en actividades de autocuidado (OR: 1,45) y haber utilizado previamente el hospital (OR: 3,45). La ingesta de alcohol resultó un factor protector (OR: 0,70). Conclusiones: Las circunstancias asociadas a precisar ingreso hospitalario son multifactoriales. El ingreso anterior es el factor de riesgo de mayor magnitud a la hora de predecir una nueva admisión (AU)

[Senior citizen health conditions and hospitalization on geriatric, general and surgical floors, a population study conducted in Toledo]. / Estado de salud de las personas ancianas y hospitalización en servicios geriátricos, médicos y quirúrgicos. Estudio poblacional en Toledo.

BACKGROUND: The health condition and some clinical aspects configure a group of senior citizens in need of further care who could benefit from specialized geriatric care, although no consensus exists as to how to identify these patients. The aim of this study is to describe the profile of those patients over 64 years of age who are hospitalized in a geriatric unit and to compare this profile to the senior citizens hospitalized in general medical and surgical units. METHOD: A cohort representative of the population over age 64 in the Judicial District of Toledo (n = 3214) was studied over an eighteen-month period for the purpose of identifying the income and length of stays at the public hospitals in the health care district in question. The health condition-related variables were gathered by means of personal interviews, and the income and the different aspects thereof by way of hospital admissions department data. RESULTS: A total of 410 individuals were admitted (12.8%), 168 patients (30.7%) in geriatrics, 204 (37.3%) in medical units and 174 (32.0%) in surgical units. In geriatrics, the average age was significantly higher (age 77.4), there being no differences in the average length of stay (12.8 days; CI 95%) 10.6-14.0), 44 patients (8.1%) having died, 26 (59.1%) hospitalized in geriatrics. More females, younger patients having minor vision and hearing impairments were admitted to the surgical units. In geriatrics, as compared to the medical units, more patients over 80 years of age, living in senior citizen living facilities, having no spouse, moderate-to-severe functional dependence, impaired cognitive function, depression, poor quality of life and scanty social resources. CONCLUSIONS: No differences were found to exist between the health conditions of those over age 64 who were hospitalized in non-surgical and surgical units. In geriatrics, as compared to the other groups of units, the patients were older, in worse condition, had a higher death rate and similar average length of stay.

[Risk factors for hospital admission in persons older than 64-years of age]. / Factores de riesgo de ingreso hospitalario en mayores de 64 años.

OBJECTIVE: To determine factors associated with hospitalization in a representative sample of population older than 64 years. DESIGN AND PARTICIPANTS: Cohort study on a sample of 3,214 representative subjects of the population 65 years and older from the judicial district of Toledo (Spain). METHOD: Personal home interview collecting data on: sociodemographic factors, comorbidity, basic and instrumental activities of daily life, conigitive decline and depressive disorder, self-rated health and previous use of health services. Hospital discharge in the 12-month period after the interview in anyone of the three hospitals in the study area were analyzed. RESULTS: 342 (10.6%) of the subjects spent at least one night in the hospital in the year after the accomplishment of the interview. Risk factors for hospitalization in the logistical model were: advanced age (OR: 1.02), male sex (OR: 1.37), presence of cardiopathy (OR: 1.97) or chronic obstruction to airflow (OR: 1.57), visual deficit (OR: 1.88), worse self-rated health (OR: 1.37) and having used the hospital previously (OR: 3.45). Alcohol consumption was a protective factor (OR: 0.70). CONCLUSIONS: Risk factors for hospitalization are of diverse origin. The previous admission is the strongest predictive factor for new hospitalization.