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1.
Inf. psiquiátr ; (239): 43-60, ene.-mar. 2020. tab, mapas, graf
Artículo en Español | IBECS | ID: ibc-192463

RESUMEN

A causa del envejecimiento de la población, se cree que entre 2015 y 2050 la población mundial mayor de 60 años se multiplicará casi por dos, pasando del 12% al 22% (Diciembre 2017), conllevará como consecuencias ,un cambio de paradigma y unos nuevos retos sociales y sanitarios. En Catalunya se prevé un aumento de la proporción de personas de más de 65 años, cerca de 1,5 millón en el 2020. Debido a estas evidencias se crea la Unidad de Atención en Crisis al paciente Psicogeriátrico en el domicilio. Se crea un programa piloto durante el año 2013, actuando en área Barcelona Norte, hasta que a finales de 2015 empezamos a dar servicio a la ciudad de Barcelona. En 2018 se desarrolla por completo la Unidad, concierto con el CatSalut. La población atendida son pacientes psi-cogeriátricos con alteraciones conductuales disruptivas en domicilio. Se podrían dividir: Paciente mayor con enfermedad mental y disminución de la funcionalidad (pacientes desvinculados de la Red de Salud Mental y que requieren múltiples intervenciones de AP y Ucias) paciente mayor con trastorno cognitivo (demencia+ SPCD prominentes; PCC/psicogeriátrico/frágil: deterioro funcional y/o cognitivo; paciente con demencia, alta dependencia y multi morbilidad (MACA)Los objetivos específicos serán, mejorarlos síntomas conductuales, evaluar la situación clínica y mejorar la coordinación de la atención con otros servicios en atención a las necesidades que se planteen, garantizar la Hospitalización Domiciliaria en una unidad especializada, si así se requiere, decidir el recurso adecuado. Se realiza valoración integral del paciente en domicilio. Se ajusta tratamiento para control sintomático. Si se consigue estabilidad clínica y cuenta con soporte, retorna a la comunidad bajo la supervisión de Atención Primaria. Si no se consigue estabilización de síntomas solicitamos ingreso en HMDM, en plaza de ME, LE o UPG. Hasta que tengamos cama en hospitalización, el paciente queda en el domicilio con seguimiento de los profesionales de la Unidad. Después de realizar la valoración inicial y a la espera del recurso adecuado, se han podido evitar un considerable número de ingresos en medio hospitalario, continuando el seguimiento en el domicilio o derivados a consultas externas. En el artículo se presentarán los resultados referentes a los años 2016-2019 que incluirán el total de pacientes atendidos y los que lo han sido en Hospitalización domiciliaria


Due to the aging of the population, it is believed that from the year 2015 to 2050 the world population over 60 years old will almost double, they will go from 12% to 22% (December 2017). One of the consequences that this will bring, is a paradigm shift and new social and health challenges. In Catalonia, an increase in the ratio from people over 65 is foreseen in 1,5 million in the year 2020. Given these facts, the Crisis Attention Psychogeriatric Patient Unit is created. n 2013 a pilot program was created, providing services in the North area of Barcelona. At the end of 2015, the Unit was providing attention to the entire city of Barcelona. In 2018 the program was fully developed and subsidized by the CatSalut.The target population, are psychogeria-tric patients that have behavioural alte-rations which affects their daily lives and put them at risk. This group includes two subgroups: older patient with mental issues and disabilities (patients who do not go to their medical appointments and require a multidisciplinary intervention, with AP and UCIAS); patients with cognitive impairment (dementia, neurological pathologies, fragile: with functional o cognitive decline, high dependency of caregivers and various chronic pathologies ( MACA).The Unit's objectives are the following: improve the behavioural alterations, assess their clinical state and improve the coordination between different health services, to be able to guarantee that all the patient ́s needs are taken care during home hospitalization, with the follow up of a specialized unit, and decide which is the most adequate resource for the patient.When the patient is visited at home by the Units sanitary resources, it receives a thorough assessment. The treatment is checked and if it is required, it is adjusted according to the symptoms. If by making these adjustments, the behavioural alteration disappear and the patient has support to maintain the treatment, returns to a fo-llow up by the Primary Unit in its area. If the patient 's symptoms cannot be stabilized, it is requested that the patient be admitted at the Hospital Mare de Déu de la Mercè (HMDM), until a bed is available at the hospital, the patient will remain at home with the Unit 's services provided by professionals to have the follow-ups. The hospitalization could be for 60 days a media stay, more than 90 days a long stay or 30 days a Short stay.We can conclude, that after the first assessment and finding the right resources for the patient, a significant number of patients are not required to be sent to the hospital. They had their follow-ups and treatment at home, and the go to their periodic appointments in external units. At the presentation the results from the 2016-2019 will be shown, they include the total of patients that were assessed and the ones who have benefitted from hospitalization at home


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Servicios de Atención de Salud a Domicilio/organización & administración , Intervención en la Crisis (Psiquiatría)/organización & administración , Psiquiatría Geriátrica , Trastorno de la Conducta/psicología , Pronóstico de Población/métodos , Atención Dirigida al Paciente/métodos , Trastornos del Conocimiento/terapia , Trastornos Mentales
2.
Eur J Hum Genet ; 11(5): 385-94, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12734544

RESUMEN

Cystic fibrosis (CF) is the most frequent severe recessive disorder in European populations. We have analyzed its mutation frequency spectrum in 94 European, North African and SW Asian populations taken from the literature. Most major mutations as well as the incidence of CF mutations showed clinals patterns as demonstrated by autocorrelogram analysis. More importantly, measures of mutation diversity did also show clinal patterns, with mutation spectra being more diverse in southern than in northern Europe. This increased diversity would imply roughly a three-fold long-term effective population size in southern than in northern Europe. Distances were computed among populations based on their CF mutation frequencies and compared with distances based on other genic regions. CF-based distances correlated with mtDNA but not with Y-chromosome-based distances, which may be a consequence of the relatively homogeneous CF mutation frequencies in European populations.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Genética de Población , Mutación , Europa (Continente) , Geografía , Humanos
3.
Hum Genet ; 110(6): 532-44, 2002 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12107439

RESUMEN

Haplotype diversity in a genomic region of approximately 70 kb in 1q21 between genes PKLR and GBA was characterized by typing one single nucleotide polymorphism (SNP) in PKLR, two SNPs in GBA and one short tandem repeat polymorphism (STRP) in PKLR in 1792 chromosomes from 17 worldwide populations. Two other SNPs in GBA were typed in three African populations. Most chromosomes carried one of either two phylogenetically distinct haplotypes with different alleles at each site. Allele diversity at the STRP was tightly linked to haplotype background. Linkage disequilibrium (LD) was highly significant for all SNP pairs in all populations, although it was, on average, slightly higher in non-African populations than in sub-Saharan Africans. Variation at PKLR-GBA was also tightly linked to that at the GBA pseudogene, 16 kb downstream from GBA. Thus, a 90 kb-long LD block was observed, which points to a low recombination rate in this region. Detailed haplotype phylogeny suggests that the chimpanzee GBA haplotype is not one of the two most frequent haplotypes. Based on variability at the PKLR STRP and on the geographical distribution of LD, the expansion of the two main haplotypes may have predated the "Out of Africa" expansion of anatomically modern humans. LD and STRP variability in non-Africans are approximately 87% of those in Africans, in contrast with other loci; this implies that the "out of Africa" bottleneck may have had a broad distribution of effects across loci.


Asunto(s)
Cromosomas Humanos Par 1/genética , Glucosilceramidasa/genética , Desequilibrio de Ligamiento , Piruvato Quinasa/genética , África , Alelos , Animales , Secuencia de Bases , Evolución Molecular , Frecuencia de los Genes , Variación Genética , Genética de Población , Haplotipos , Hominidae/genética , Humanos , Modelos Genéticos , Pan troglodytes/genética , Filogenia , Polimorfismo de Nucleótido Simple , Seudogenes , Selección Genética , Secuencias Repetidas en Tándem
4.
Am J Hum Genet ; 70(1): 257-64, 2002 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11713719

RESUMEN

The genetic background of the mutations that most often cause cystic fibrosis (CF) is different from that of non-CF chromosomes in populations of European origin. It is not known whether these haplotype backgrounds could be found at high frequencies in populations in which CF is, at present, not common; such populations would be candidates for the place of origin of CF mutations. An analysis of haplotypes of CF transmembrane conductance regulator, together with their variation in specific CF chromosomes, in a worldwide survey of normal chromosomes shows (1) a very low frequency or absence of the most common CF haplotypes in all populations analyzed and (2) a strong genetic variability and divergence, among various populations, of the chromosomes that carry disease-causing mutations. The depth of the gene genealogy associated with disease-causing mutations may be greater than that of the evolutionary process that gave rise to present-day human populations. The concept of "population of origin" lacks either spatial or temporal meaning for mutations that are likely to have been present in Europeans before the ethnogenesis of present populations; subsequent population processes may have erased the traces of their geographic origin.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/etnología , Fibrosis Quística/genética , Mutación/genética , Emigración e Inmigración , Europa (Continente) , Frecuencia de los Genes/genética , Haplotipos/genética , Humanos , Intrones/genética , Funciones de Verosimilitud , Repeticiones de Microsatélite/genética , Filogenia , Polimorfismo de Nucleótido Simple/genética , Tamaño de la Muestra
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