RESUMO
The delivery of a dementia diagnosis, the information provided, and the practical advice and support arranged can have a long-lasting impact on patients and their families and deserves attention equal to that given to the assessment and investigation process. Patients and their families need a constructive yet sensitive conversation about the nature and cause of their difficulties, communicated in plain language, and tailored to their main concerns and needs. This conversation should lead to the provision of high-quality, easily accessible information. Following this, clinicians may wish to consider broaching the following dementia topics: (1) pharmacological and non-pharmacological interventions, (2) connection and integration with relevant organisations, (3, 4) application for formal support services and engagement with support teams, (5) safety in the home, (6, 7) financial planning, guardianship and legal matters, (8) driving eligibility, (9) support and education resources to family carers and (10) research initiatives and genetic information. Addressing these topics will contribute to improved disease management, which is likely to improve the dementia journey for the patient, their carer(s), and family.
Assuntos
Demência , Humanos , Austrália , Cuidadores/psicologia , Demência/diagnóstico , Demência/terapia , Demência/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Apoio SocialRESUMO
BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated inflammatory demyelinating disease of the central nervous system. We report a case of ADEM presenting with bilateral optic neuritis temporally associated with the ChAdOx1 vaccine against SARS-COVID19 virus. CASE PRESENTATION: A 36-year-old female presented with bilateral optic neuritis following her first dose of the ChAdOx1 vaccine. Initial MRI Brain showed evidence of demyelination within the subcortical white matter, with no radiological involvement of the optic nerves. Visual evoked potentials were consistent with bilateral optic neuritis which was confirmed radiologically on follow up MRI. She was treated with intravenous steroids with improvement both in symptoms and radiological appearance. A pseudo-relapse occurred which was treated with a further course of intravenous steroids followed by an oral taper. The clinical, radiological and serological results were most consistent with diagnosis of ADEM. CONCLUSIONS: ADEM is an exceedingly rare complication of ChAdOx1 vaccine despite millions of doses. While it is imperative clinicians remain aware of neurological complications of vaccines, the importance of vaccination to control a pandemic should not be undermined.
Assuntos
COVID-19 , Encefalomielite Aguda Disseminada , Neurite Óptica , Adulto , Vacinas contra COVID-19 , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Encefalomielite Aguda Disseminada/tratamento farmacológico , Encefalomielite Aguda Disseminada/etiologia , Potenciais Evocados Visuais , Feminino , Humanos , Neurite Óptica/tratamento farmacológico , Neurite Óptica/etiologia , SARS-CoV-2 , VacinaçãoRESUMO
Leveraging recent advances in automated language analysis and anovel statistical approach utilizing an independent control group, we explored changes in lexical output across two published works of a man diagnosed with semantic dementia. We found significant increase in adverb usage and decline in familiarity, meaningfulness, age of acquisition and co-occurrence probability over 2 years. Collectively, these indices suggest that WR's narrative structure became progressively simpler, lexically less sophisticated, and that words commonly associated together no longer appeared in close proximity. Our study illustrates how degeneration of the semantic knowledge base impacts the production, content, and quality of literary works.
Assuntos
Demência Frontotemporal , Pré-Escolar , Humanos , Idioma , Linguística , Masculino , SemânticaRESUMO
Behavioural variant frontotemporal dementia (bvFTD) is a complex and heterogeneous disorder with as yet unidentified unifying pathophysiological mechanism. There is emerging evidence that hypothalamic dysfunction, manifesting as disturbances in sleep and metabolism, is an integral component of neurodegeneration in bvFTD. Although sleep and metabolic disturbances and the behavioural abnormalities of bvFTD may appear disparate on the surface, there may be a common underlying hormonal mechanism involving orexin. Orexin is a hypothalamic neurotransmitter directly responsible for control of sleep and metabolism in healthy individuals and is implicated in many abnormal behaviours commonly seen in bvFTD - such as impulsive behaviour, hedonistic reinforcement and binge-consumption of ethanol. Further characterising orexin's role in pathophysiology of bvFTD could lead to a new paradigm for understanding this disease and may provide a new direction towards effective management and treatment.
Assuntos
Demência Frontotemporal/fisiopatologia , Orexinas/metabolismo , Sono/fisiologia , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Humanos , Comportamento Impulsivo , Orexinas/efeitos adversosRESUMO
INTRODUCTION: There is a need for a reliable, noninvasive biomarker for Alzheimer's disease (AD). We assessed whether short-latency afferent inhibition (SAI), a transcranial magnetic stimulation paradigm that assesses cholinergic circuits of the brain, could become such a biomarker. METHODS: Nineteen patients with AD underwent four SAI testing sessions. The timing of their usual donepezil dose was altered to create different cholinergic states for each session. This was compared to the SAI results from 20 healthy subjects. RESULTS: SAI was not able to distinguish the different cholinergic states assessed in our study. There appeared to be a diurnal variation in cholinergic function in the control group, which was not present in the AD cohort. DISCUSSION: SAI does not appear to have a role in diagnosis and assessment of AD patients. The loss of diurnal variation, however, warrants further investigation as it may provide further biochemical insights about AD.
Assuntos
Acidente Vascular Cerebral , Telemedicina , Cuidados Críticos , Humanos , Serviços de Saúde Rural , TromboseRESUMO
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a â¼80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing. © 2016 Wiley Periodicals, Inc.
Assuntos
Alelos , Ataxia/diagnóstico , Ataxia/genética , Metilação de DNA , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Estudos de Associação Genética , Mosaicismo , Deleção de Sequência , Tremor/diagnóstico , Tremor/genética , Adulto , Pré-Escolar , Variações do Número de Cópias de DNA , Proteína do X Frágil da Deficiência Intelectual/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Regiões Promotoras Genéticas , RNA Mensageiro/genética , Expansão das Repetições de TrinucleotídeosRESUMO
Mosaicism for FMR1 premutation (PM: 55-199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and fragile X associated tremor/ataxia syndrome (FXTAS)-a late onset neurodegenerative disorder. We describe a 38 year old male carrying a 100% methylated FM detected with Southern blot (SB), which is consistent with complete silencing of FMR1 and a diagnosis of fragile X syndrome. However, his formal cognitive scores were not at the most severe end of the FXS phenotype and he displayed tremor and ataxic gait. With the association of UFM with FXTAS, we speculated that his ataxia might be related to an undetected proportion of UFM alleles. Such UFM alleles were confirmed by more sensitive PCR based methylation testing showing FM methylation between 60% and 70% in blood, buccal, and saliva samples and real-time PCR analysis showing incomplete silencing of FMR1. While he did not meet diagnostic criteria for FXTAS based on MRI findings, the underlying cause of his ataxia may be related to UFM alleles not detected by SB, and follow-up clinical and molecular assessment are justified if his symptoms worsen.
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Insulin neuritis is a historical term for an acute neuropathy affecting patients with diabetes who achieve rapid re-establishment of previously poor glycaemic control. It presents with neuropathic pain, symptoms of autonomic dysfunction or a combination of both. Recently, it has been proposed that 'treatment-induced neuropathy of diabetes' would be a more accurate name for this entity. The management focuses on controlling the symptoms while they gradually improve with time.