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1.
Digit Health ; 9: 20552076231161962, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36908377

RESUMO

Objective: Compared to late life dementia, Young Onset Dementia (YOD) has its own distinct challenges, including a lack of specialised and age-appropriate support services. Carers of people with YOD experience higher levels of psychological and physical symptoms, and lower quality of life. This study (RHAPSODY-Plus) assessed the acceptability and feasibility of combining RHAPSODY (Research to Assess Policies and Strategies for Dementia in the Young; a web-based information and skill-building programme for carers of people with YOD) with individually tailored support sessions with health professionals (a social worker and a clinical psychologist) provided via online videoconferencing. Methods: Participants (n = 20) were informal carers aged over 18 years, who were caring for a person with YOD (either Alzheimer's disease or frontotemporal dementia type). Participants used the RHAPSODY programme for 4 weeks, then attended 2 support sessions. Participants and the health professionals then attended individual feedback sessions. Feedback was collected via open-ended and Likert-style questions. Results: The majority of carers rated the RHAPSODY-Plus programme as good to very good, demonstrating a high level of acceptability. Positive feedback about the programme included being able to receive personal advice additionally to the information provided in RHAPSODY. The healthcare professionals also thought the programme was acceptable and beneficial for access to support. Some limitations in the feasibility of videoconferencing included network and technical issues and the loss of non-verbal communication. Conclusions: This online pilot study had a high level of acceptability, demonstrating the potential of an individualised multi-modal intervention for carers of people with YOD which offers opportunities to overcome geographical and service access barriers.

2.
BMC Bioinformatics ; 10: 81, 2009 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-19267942

RESUMO

BACKGROUND: Genotyping of single-nucleotide polymorphisms (SNPs) is a fundamental technology in modern genetics. The SNPlex mid-throughput genotyping system (Applied Biosystems, Foster City, CA, USA) enables the multiplexed genotyping of up to 48 SNPs simultaneously in a single DNA sample. The high level of automation and the large amount of data produced in a high-throughput laboratory require advanced software tools for quality control and workflow management. RESULTS: We have developed two programs, which address two main aspects of quality control in a SNPlex genotyping environment: GMFilter improves the analysis of SNPlex plates by removing wells with a low overall signal intensity. It enables scientists to automatically process the raw data in a standardized way before analyzing a plate with the proprietary GeneMapper software from Applied Biosystems. SXTestPlate examines the genotype concordance of a SNPlex test plate, which was typed with a control SNP set. This program allows for regular quality control checks of a SNPlex genotyping platform. It is compatible to other genotyping methods as well. CONCLUSION: GMFilter and SXTestPlate provide a valuable tool set for laboratories engaged in genotyping based on the SNPlex system. The programs enhance the analysis of SNPlex plates with the GeneMapper software and enable scientists to evaluate the performance of their genotyping platform.


Assuntos
Genótipo , Polimorfismo de Nucleotídeo Único/genética , Software , Bases de Dados Genéticas , Genoma Humano , Humanos , Armazenamento e Recuperação da Informação , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Interface Usuário-Computador
3.
Environ Sci Technol ; 39(6): 1523-31, 2005 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-15819205

RESUMO

Sulfonated naphthalene-formaldehyde condensates (SNFC) are high production volume chemicals used in a variety of applications, for example, as concrete plasticizers, tanning agents, or dye dispersants. They enter the aquatic environment primarily by the wastewater path. The occurrence and fate of the monomers, which are different isomers of mono- and disulfonated naphthalene, was intensively investigated in previous studies. However, the environmental fate of the persistent higher molecular SNFC is so far widely unknown. This paper describes an ultrasonic extraction under alkaline conditions, followed by ion-pair HPLC with fluorescence detection for the analysis of SNFC oligomers from solid environmental matrixes such as sewage sludge, suspended solids, and river sediments. Limits of quantification of about 0.1 mg kg-1 d.m. were well below the measured concentrations in environmental samples. SNFC were adsorbed to suspended solids and river sediments in three major German rivers (Rhine, Neckar, and Danube) in concentrations typically up to several mg kg(-1) d.m. A total content of about 4 g kg(-1) d.m. was measured in a sewage sludge of a municipal wastewater treatment plant, which receives wastewater from a textile dyeing plant. Furthermore, the first quantitative field data on the partition of SNFC and their monomers between the aqueous phase and solid environmental compartments are presented. Solid-liquid partition coefficients (Kd) of oligomers with a chain-length ranging from three to six naphthalenesulfonate units were derived from the analysis of corresponding wastewater and sewage sludge samples and from suspended solids and river water samples, respectively. Determined Kd values were in the range from 10(2) to 10(4) L kg(-1).


Assuntos
Desinfetantes/química , Formaldeído/química , Modelos Teóricos , Naftalenossulfonatos/química , Poluentes Químicos da Água/análise , Cromatografia Líquida de Alta Pressão , Solubilidade , Eliminação de Resíduos Líquidos
4.
Mutat Res ; 573(1-2): 111-35, 2005 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-15829242

RESUMO

In this review we describe the principles, protocols, and applications of two commercially available SNP genotyping platforms, the TaqMan SNP Genotyping Assays and the SNPlex Genotyping System. Combined, these two technologies meet the requirements of multiple SNP applications in genetics research and pharmacogenetics. We also describe a set of SNP selection tools and validated assay resources which we developed to accelerate the cycle of experimentation on these platforms. Criteria for selecting the more appropriate of these two genotyping technologies are presented: the genetic architecture of the trait of interest, the throughput required, and the number of SNPs and samples needed for a successful study. Overall, the TaqMan assay format is suitable for low- to mid-throughput applications in which a high assay conversion rate, simple assay workflow, and low cost of automation are desirable. The SNPlex Genotyping System, on the other hand, is well suited for SNP applications in which throughput and cost-efficiency are essential, e.g., applications requiring either the testing of large numbers of SNPs and samples, or the flexibility to select various SNP subsets.


Assuntos
Genótipo , Polimorfismo de Nucleotídeo Único , Frequência do Gene , Humanos , Desequilíbrio de Ligação , Farmacogenética/métodos , Software
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