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BACKGROUND AND PURPOSE: In 2021, the European Academy of Neurology's training requirements were updated to include functional neurological disorder (FND) as a core topic for the first time. To reinforce these changes, we aimed to understand the proportion of inpatients (in non-neurology settings) who are diagnosed with FND. METHODS: We prospectively collected data on diagnoses made after inpatient ward reviews from neurology trainees at three tertiary neurology centres in Scotland from April to September 2021. We assessed healthcare utilization data for patients with a diagnosis of FND, epilepsy and epileptic seizures, or a neuroinflammatory disorder over the preceding 12 months. RESULTS: There were 437 inpatient reviews for 424 patients by 13 trainees. The largest single diagnosis was FND (n = 80, 18%), followed by epilepsy (n = 64, 14%), primary headache disorder (n = 40, 9%) and neuroinflammatory disorders (n = 28, 6%). There was an uncertain diagnosis for 48 reviews (11%). Compared to patients with epilepsy or neuroinflammatory disorders, patients with FND had a similar number of admissions (2 vs. 2 vs. 1) and brain/spine imaging studies (2 vs. 1 vs. 2). CONCLUSIONS: In Scotland, FND was the most common diagnosis made after a request for an inpatient review by a neurologist from another department in the hospital. Patients with FND have similar health resource needs to those with other common neurological disorders when they present to hospitals with tertiary neurology centres. This data supports the inclusion of FND as a core curriculum topic in neurology training.
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Transtorno Conversivo , Epilepsia , Neurologia , Humanos , Pacientes Internados , Doenças Neuroinflamatórias , Transtorno Conversivo/diagnóstico , Encaminhamento e ConsultaRESUMO
BACKGROUND: Palliative care for children and young people is a growing global health concern with significant resource implications. Improved understanding of how palliative care provides benefits is necessary as the number of children with life-limiting and life-threatening conditions rises. AIM: The aim is to investigate beneficial outcomes in palliative care from the perspective of children and families and the contexts and hidden mechanisms through which these outcomes can be achieved. DESIGN: This is a systematic realist review following the RAMESES standards. A protocol has been published in PROSPERO (registration no: CRD42018090646). DATA SOURCES: An iterative literature search was conducted over 2 years (2015-2017). Empirical research and systematic reviews about the experiences of children and families in relation to palliative care were included. RESULTS: Sixty papers were included. Narrative synthesis and realist analysis led to the proposal of context-mechanism-outcome configurations in four conceptual areas: (1) family adaptation, (2) the child's situation, (3) relationships with healthcare professionals and (4) access to palliative care services. The presence of two interdependent contexts, the 'expert' child and family and established relationships with healthcare professionals, triggers mechanisms, including advocacy and affirmation in decision-making, which lead to important outcomes including an ability to place the emphasis of care on lessening suffering. Important child and family outcomes underpin the delivery of palliative care. CONCLUSION: Palliative care is a complex, multifactorial intervention. This review provides in-depth understanding into important contexts in which child and family outcomes can be achieved so that they benefit from palliative care and should inform future service development and practice.
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Família/psicologia , Cuidados Paliativos , Assistência Terminal , Criança , Feminino , Humanos , MasculinoRESUMO
The indole-3-acetic acid (IAA) content of developing grains of Oryza sativa subsp. japonica was measured by combined liquid chromatography, tandem mass spectrometry in multiple-reaction-monitoring mode. The increase from 50 ng g(-1) fresh weight to 2.9 µg g(-1) fresh weight from 1 to 14 days after pollination was much larger than that previously reported by enzyme-linked immunoassay methods. The largest increase in IAA content coincided with the start of the major starch deposition phase of grain-fill. The increase in IAA content was strongly correlated with the expression of putative IAA biosynthesis genes, OsYUC9, OsYUC11 and OsTAR1, measured by quantitative reverse transcriptase polymerase chain reaction. These results confirm the importance of the tryptophan aminotransferase/YUCCA pathway in this system. All three genes were expressed in endosperm; expression of OsYUC11 appeared to be confined to endosperm tissue. Phylogenetic analysis indicated that OsYUC11 and AtYUC10 belong to a separate clade of YUCCAs, which do not have orthologues outside the Angiosperms. This clade may have evolved with a specific role in endosperm. Expression of tryptophan decarboxylase in developing rice grains did not correlate with IAA levels, indicating that tryptamine is unlikely to be important for IAA synthesis in this system. In light of these observations, we hypothesize that IAA production in developing rice grains is controlled via expression of OsTAR1, OsYUC9, OsYUC11 and that IAA may be important during starch deposition in addition to its previously suggested role early in grain development.
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Regulação da Expressão Gênica de Plantas , Ácidos Indolacéticos/metabolismo , Oryza/enzimologia , Sementes/crescimento & desenvolvimento , Triptofano Transaminase/metabolismo , Cromatografia Líquida , Regulação Enzimológica da Expressão Gênica , Genes de Plantas , Oryza/genética , Oryza/crescimento & desenvolvimento , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Polinização , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sementes/enzimologia , Sementes/genética , Amido/genética , Amido/metabolismo , Espectrometria de Massas em Tandem/métodos , Triptofano Transaminase/genéticaRESUMO
We present a practical overview of functional neurological disorder (FND), its epidemiology, assessment and diagnosis, diagnostic pitfalls, treatment, aetiology and mechanism. We present an update on functional limb weakness, tremor, dystonia and other abnormal movements, dissociative seizures, functional cognitive symptoms and urinary retention, and 'scan-negative' cauda equina syndrome. The diagnosis of FND should rest on clear positive evidence, typically from a combination of physical signs on examination or the nature of seizures. In treatment of FND, clear communication of the diagnosis and the involvement of the multidisciplinary team is beneficial. We recommend that patients with FND are referred to specialists with expertise in neurological diagnosis. FND is a common presentation in emergency and acute medical settings and there are many practical elements to making a positive diagnosis and communication which are useful for all physicians to be familiar with.
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Transtorno Conversivo , Clínicos Gerais , Doenças do Sistema Nervoso , Serviço Hospitalar de Emergência , Humanos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/terapia , Convulsões/diagnóstico , Convulsões/epidemiologia , Convulsões/terapia , TremorRESUMO
Progressive multifocal leukoencephalopathy is a rare demyelinating disorder of the CNS, caused by John Cunningham virus, that occurs in those with impaired immune systems. Existing treatment options are ineffective or unproven. This article reviews research into novel therapies: immune checkpoint-blocking antibodies (nivolumab and pembrolizumab), allogenic BK virus-specific T cell treatment and filgrastim. Results for these therapies in small clinical trials are promising, but further research is required to assess efficacy fully.
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Hospedeiro Imunocomprometido , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Idoso , Anticorpos Monoclonais Humanizados/uso terapêutico , Antineoplásicos Imunológicos/uso terapêutico , Filgrastim/uso terapêutico , Humanos , Vírus JC , Leucoencefalopatia Multifocal Progressiva/virologia , Masculino , Nivolumabe/uso terapêutico , Receptor de Morte Celular Programada 1/antagonistas & inibidoresRESUMO
PML should be considered in patients with neurological symptoms following MM and in those who are immunosuppressed. Symptoms are diverse and often rapidly progressing. Prompt referral and early involvement of the multidisciplinary team are crucial.
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BACKGROUND: Neurology referrals from primary care are increasing. Actively triaging referrals is one way of providing a better patient-focussed service. METHODS: We reviewed the safety and cost-effectiveness of 'advice only' rather than face-to-face appointments for neurology patients via active triage. Referrals triaged as 'advice only' were identified over a 6-month period. Data were collected on reason for referral, opinion of triaging neurologist and whether the patient re-presented to neurology within 12 months. RESULTS: A total of 10% (236 out of 2,445) of referred patients were given advice only after active triage. A total of 71% (n = 167) had no further secondary care presentations in 12 months. The most common presentation was headache (n = 57; 13%). One patient had a major diagnostic change following delayed review. CONCLUSIONS: 'Advice only' allows patients to receive timely advice and management. It appears safe and is likely to be cost effective, although further data are required on whether it provides satisfactory outcomes for patients and general practitioners.
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Clínicos Gerais , Relações Interprofissionais , Neurologistas , Encaminhamento e Consulta , Triagem/métodos , Assistência Ambulatorial/economia , Erros de Diagnóstico/estatística & dados numéricos , Humanos , Atenção Primária à Saúde , Encaminhamento e Consulta/economia , Triagem/economia , Reino UnidoRESUMO
BACKGROUND: The number of children and young people (CYP) living with life-limiting and life-threatening conditions is rising. Paediatric palliative care is a relatively new aspect of healthcare, the delivery of which is variable, with a wide range of healthcare and voluntary sector providers involved. Policy recommendations are for Specialist Paediatric Palliative Care (SPPC) services to be supported by a physician with specialist training. AIM: To examine the research evidence regarding the distinct benefits of SPPC services, with 'Specialist Paediatric Palliative Care' defined as palliative care services supported by a specialist physician. METHOD: Systematic review of studies of SPPC services published in English from 1980 to 2016. Keyword searches were carried out in medical databases (Cochrane, PubMed, EMBASE, CINAHL and AMED) and a narrative synthesis. RESULTS: Eight studies were identified, most of which were retrospective surveys undertaken within single institutions; three were surveys of bereaved parents and three were medical notes reviews. Together they represented a heterogeneous body of low-level evidence. Cross-cutting themes suggest that SPPC services improve the quality of life and symptom control and can impact positively on place of care and family support. CONCLUSIONS: Current evidence indicates that SPPC services contribute beneficially to the care and experience of CYP and their families, but is limited in terms of quantity, methodological rigour and generalisability. Further research is necessary given the significant workforce and resource implications associated with policy recommendations about the future provision of SPPC and to address the need for evidence to inform the design and delivery of SPPC services.
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Serviços de Saúde da Criança , Cuidados Paliativos , Pediatria , Criança , HumanosRESUMO
BACKGROUND: Prediction of self-harm is limited clinically. Early identification of individuals likely to repeat self-harm could improve outcomes and reduce suicide risk. Various neurocognitive deficits have been found in people who self-harm, but the ability of these to predict repetition has yet to be established AIMS: Identify neurocognitive factors that may predict repetition of self-harm. METHODS: Systematic narrative review of English language publications assessing neurocognitive functioning and self-harm repetition, searching multiple databases from inception to March 2015. Quality of studies was appraised. A narrative synthesis was performed. RESULTS: 7026 unique records were identified, and 169 full-texts assessed. 15 unique studies provided data. No imaging studies could be included. Most studies assessed cognitive control or problem solving, but neither factor was consistently associated with repetition. However, specific tasks may show promise. Two studies in adolescents suggest that value-based decision-making impairments could be predictive of repetition. There were too few results for memory to draw specific conclusions. CONCLUSIONS: Selected studies suggest promise for particular neurocognitive factors and specific cognitive tasks in terms of repetition of self-harm.
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Comportamento Autodestrutivo , Cognição , Humanos , Resolução de Problemas , Fatores de RiscoRESUMO
Indole-3-acetic acid (IAA) synthesis is required for grain-fill in maize and appears to be regulated by cell-wall invertase (CWIN) activity. OsYUC12 is one of three IAA biosynthesis genes we previously reported as expressed during early rice grain development, correlating with a large increase in IAA content of the grain. This work aimed to investigate further the role of OsYUC12 and its relationship to CWIN activity and invertase inhibitors (INVINH). The analysis shows a brief peak of OsYUC12 expression early in endosperm development. Meta-analysis of microarray data, confirmed by quantitative expression analysis, revealed that OsYUC12 is coexpressed with OsIAA29, which encodes an unusual AUX/IAA transcription factor previously reported as poorly expressed. Maximum expression of OsYUC12 and OsIAA29 coincided with maximum CWIN activity, but also with a peak in INVINH expression. Unlike ZmYUC1, OsYUC12 expression is not reduced in the rice CWIN mutant, gif1. Several reports have investigated CWIN expression in rice grains but none has reported on expression of INVINH in this species. We show that rice has 54 genes encoding putative invertase/pectin methylesterase inhibitors, seven of which are expressed exclusively during grain development. Our results suggest a more complex relationship between IAA, CWIN, and INVINH than previously proposed.