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1.
Intern Med ; 57(13): 1917-1919, 2018 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-29434138

RESUMO

We herein report a 15-year-old girl who developed rapid progressive muscle weakness soon after the third injection of a bivalent human papilloma virus (HPV) vaccine. Although immunotherapies were performed for possible vaccine-related disorders, she died of respiratory failure 14 months after the onset of the disease. A genetic analysis identified a heterozygous p.P525L mutation of the fused in sarcoma (FUS) gene, and a histopathological analysis was also consistent with FUS-associated amyotrophic lateral sclerosis (ALS) without any evidence of neuroinflammation. We concluded the diagnosis to be FUS-ALS, although we cannot completely rule out the possibility that the vaccination worked as a trigger.


Assuntos
Esclerose Lateral Amiotrófica/induzido quimicamente , Esclerose Lateral Amiotrófica/genética , Vacinas contra Papillomavirus/efeitos adversos , Proteína FUS de Ligação a RNA/genética , Adolescente , Esclerose Lateral Amiotrófica/patologia , Feminino , Testes Genéticos , Heterozigoto , Humanos , Mutação
2.
Gan To Kagaku Ryoho ; 41 Suppl 1: 30-2, 2014 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-25595075

RESUMO

Drug adherence is central to the treatment of dementia, which might reduce compliance due to memory loss, particularly among home-based patients with dementia. In order to improve drug adherence, we suggest the efficient and effective supervised administration by use of information communication technology(ICT). ICT makes face-to-face real-time communication possible, and it also enables picture sharing. Therefore, it might be useful to apply ICT to controlling and supervising medication for patients with dementia to improve drug adherence. Accordingly, we enrolled patients who were supposed to take a newly prescribed anti-dementia patch containing the choline esterase inhibitor rivastigmine(Rivastach®)and investigated the effect of ICT-based intervention for drug adherence, emotional change, and cognitive change, utilizing Skype, a free communication software program. Scheduled Skype interventions increased drug adherence ratio, levels of subjective satisfaction, and instrumental activities of daily living(IADL). Furthermore, we can provide patients and their caregivers with a feeling of safety through regular bidirectional communication, as patients can easily consult medical staff regarding the adverse effects of newly prescribed drugs. Instead of frequent visits to their primary physicians, ICT-based communications can be used as a substitute for supervision of medication, given the availability of the telecommunication system. By directly connecting the medical institution to the home, we expect that this ICT-based system will expand into the geriatric care field, including the care of elderly individuals living alone.


Assuntos
Doença de Alzheimer/tratamento farmacológico , Telemedicina , Idoso , Idoso de 80 Anos ou mais , Cuidadores , Cognição , Feminino , Serviços de Assistência Domiciliar , Humanos , Masculino , Pessoa de Meia-Idade
3.
Gan To Kagaku Ryoho ; 39 Suppl 1: 45-7, 2012 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-23268897

RESUMO

In our laboratory, we draw up research aims to improve medication compliance in patients with dementia by video phone, and we have intervened in the cases of 3 patients to date. In this study, we focused on patients who are using a rivastigmine patch for Alzheimer' disease, which can be confirmed by video phone, to examine its efficacy. Specifically, by monitoring the effects of the treatment, skin side effects, of skin and usability for patients and caregivers, we monitor the dosing schedule to prevent interruption of self-medication, with the aim of improving compliance and treatment efficacy. We also consider methods of intervention for increasing the persistence rate of the rivastigmine patch and quality of life(QOL)by using the effectiveness of the video phone to focus on the symptoms of skin side effects. In addition, we examine the interventions that reduce the care burden and anxiety of caregivers by listening during the regular intervention.


Assuntos
Doença de Alzheimer/tratamento farmacológico , Monitoramento de Medicamentos/instrumentação , Internet , Humanos
4.
J Alzheimers Dis ; 6(3): 257-68, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15201480

RESUMO

Quantitative proteome analysis of Alzheimer's disease (AD) brains was performed using two-dimensional (2-D) gels in order to find out the pathological protein expression in AD. We sequentially extracted brain proteins using two distinct sample solutions, yielding different protein fractions (fraction A and B). These fractions showed distinct 2-DE patterns with high resolution and excellent reproducibility. In fraction A (solubilized by urea and Nonidet P-40 (NP-40)), approximately 1300 protein spots were detected, and the relative volume (%VOL) significantly increased in five spots and significantly decreased in 10 spots in AD. The proteins identified include enzymes, molecular chaperones and cytoskeletal proteins. In fraction B (solubilized by urea, thiourea, N-decyl-N,N-dimethyl-3-ammonio-1-propane sulfonate (SB3-10) and 3-[(3-cholamidopropyl)dimethylammonio]-1-propanesulfonate (CHAPS)), over 500 protein spots were detected in the 2-DE data analysis. The %VOL of three spots was significantly increased in AD. Two of these spots were identified as glial fibrillary acidic protein (GFAP) using mass spectrometry. These results suggest that subproteomics following sequentially extracted brain proteins is a useful method for the analysis of brain extracts containing hydrophobic proteins. Our findings will prompt further study on disease-linked proteins for the investigation of AD pathogenesis and the quest for disease markers.


Assuntos
Doença de Alzheimer/metabolismo , Encéfalo/metabolismo , Tecido Nervoso/metabolismo , Proteínas/metabolismo , Proteoma/metabolismo , Idoso , Doença de Alzheimer/patologia , Encéfalo/patologia , Eletroforese em Gel Bidimensional/métodos , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Espectrometria de Massas/métodos , Proteínas de Membrana , Pessoa de Meia-Idade , Tecido Nervoso/patologia , Valores de Referência
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