Everyday experiences of post-diagnosis life with dementia: A co-produced photography study.

There has been surprisingly little research capturing people's everyday lives in the early years following a diagnosis of dementia. This project was co-produced by three people with dementia and two university researchers. The co-researchers with dementia formulated the aims of this project as: (1) to explore post-diagnosis life with dementia and (2) to use data collection methods as a form of peer support and confidence building for the participants. The intent was to provide the opportunity to learn new skills and support participants to share their experiences without putting them on the spot. Five participants with recent diagnoses received a photography lesson and cameras to take photographs of their everyday lives. This was followed with a focus group in which the photographs were discussed. The participants used their photographs to explain: (1) the differences between their past and present with dementia, (2) how dementia affected their thought processes, (3) pets and grandchildren as facilitators of reciprocal joy and support, (4) the emotional effects of living with a dementia diagnosis, and (5) the solace and stability of nature in a changing world. The participants' creative use of photography supported them to express the complex emotions felt after a diagnosis of dementia and they reported the benefit of doing this in an environment with peers going through the same experiences. The role of the co-researchers with dementia was the key to the success of this project, drawing on their own experiences to design the project and support the participants. Future research should draw on the experiences of people with dementia to design research projects and care interventions.

A DOB allele encoding an amino acid substitution (Phe62Ser) resulting in a Dombrock null phenotype.

BACKGROUND: The gene polymorphisms responsible for the antigens Doa, Dob, Hy, and Joa in the Dombrock (Do) blood group system have been identified. Four different mutations have been reported to cause the Dombrock null [Gy(a-)] phenotype. These include splice mutations, an eight-nucleotide deletion, and insertion of a stop codon. Here a Dombrock null caused by a single-amino-acid substitution in the full-length protein is reported. STUDY DESIGN AND METHODS: DOA and DOB were determined by polymerase chain reaction-restriction fragment length polymorphism, and DO (ART4) exons and flanking regions were sequenced from genomic DNA. Expression analysis was performed by transfection of wild-type and mutant cDNAs into HEK 293T cells followed by flow cytometry and immunoblotting. Homology modeling was used to map the mutation on the protein structure. RESULTS: The patient's sample carried nt 793G/G, indicating a DOB/DOB background. Exon 2 sequencing showed the sample carried a new mutation, nt 185T>C, causing a Phe62Ser substitution. This variant Do was not expressed on the surface of transfected HEK 293T cells. The mutation maps to a highly conserved FDDQY motif located between the beta1-strand and alpha1-helix near the COOH terminus in the native molecule. CONCLUSIONS: The Dombrock null reported here is due to a single Phe62Ser mutation. The expression data confirmed that 62Ser is responsible for lack of cell surface Do, and protein modeling suggests the mutation disrupts important aromatic side chain interactions between Phe62 and His160. Production of an antibody to a high prevalence Dombrock antigen (anti-Gya) in this patient was consistent with complete absence of Dombrock/ART4 protein.