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- Buckley, Patrick G., et al.
(författare)
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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
- 2005
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 26:6, s. 540-9
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Tidskriftsartikel (refereegranskat)abstract
- Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas. The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder. The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence implicates chromosome 22 as the primary location of the gene(s) of interest. To investigate this, we comprehensively profiled the DNA copy number in samples from sporadic and familial schwannomatosis, NF2, and a large cohort of normal controls. Using a tiling-path chromosome 22 genomic array, we identified two candidate regions of copy number variation, which were further characterized by a PCR-based array with higher resolution. The latter approach allows the detection of minute alterations in total genomic DNA, with as little as 1.5 kb per measurement point of nonredundant sequence on the array. In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL. Analysis of normal controls indicated that these IGL rearrangements were restricted to schwannomatosis/schwannoma samples. In the second candidate region spanning GSTT1 and CABIN1 genes, we observed a frequent copy number polymorphism at the GSTT1 locus. We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders.
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- Nakanishi, Miharu, et al.
(författare)
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e-learning and web-based tools for psychosocial interventions addressing neuropsychiatric symptoms of dementia during the covid-19 pandemic in tokyo, japan : Quasi-experimental study
- 2021
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Ingår i: JMIR Medical Education. - : JMIR Publications Inc.. - 2369-3762. ; 7:4
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Tidskriftsartikel (refereegranskat)abstract
- Background: Concern has been raised that the COVID-19 pandemic and consequent social distancing measures may increase neuropsychiatric symptoms in people with dementia. Thus, we developed and delivered an e-learning training course to professional caregivers on using a web-based tool for psychosocial interventions for people with dementia. Objective: The aim of our study was to evaluate the feasibility and efficacy of an e-learning course in combination with a web-based tool in addressing neuropsychiatric symptoms of dementia. Methods: A quasi-experimental design was used in Tokyo, Japan. The e-learning course was delivered three times to professional caregivers between July and December 2020. Caregivers who completed the course assessed the level of neuropsychiatric symptoms in people with dementia using the total score from the Neuropsychiatric Inventory (NPI) via a web-based tool. The primary outcome measures were the number of caregivers who implemented follow-up NPI evaluations by March 2021 and the change in NPI scores from baseline to their most recent follow-up evaluations. As a control group, information was also obtained from professional caregivers who completed a face-to-face training course using the same web-based tool between July 2019 and March 2020. Results: A total of 268 caregivers completed the e-learning course in 2020. Of the 268 caregivers, 56 (20.9%) underwent follow-up evaluations with 63 persons with dementia. The average NPI score was significantly reduced from baseline (mean 20.4, SD 16.2) to the most recent follow-up evaluations (mean 14.3, SD 13.4). The effect size was assumed to be medium (Cohen drm [repeated measures]=0.40). The control group consisted of 252 caregivers who completed a face-to-face training course. Of the 252 caregivers, 114 (45.2%) underwent follow-up evaluations. Compared to the control group, caregivers who completed the e-learning course were significantly less likely to implement follow-up evaluations (χ2 1=52.0, P<.001). The change in NPI scores did not differ according to the type of training course (baseline-adjusted difference=-0.61, P=.69). Conclusions: The replacement of face-to-face training with e-learning may have provided professionals with an opportunity to participate in the dementia behavior analysis and support enhancement (DEMBASE) program who may not have participated in the program otherwise. Although the program showed equal efficacy in terms of the two training courses, the feasibility was suboptimal with lower implementation levels for those receiving e-learning training. Thus, further strategies should be developed to improve feasibility by providing motivational triggers for implementation and technical support for care professionals. Using online communities in the program should also be investigated.
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