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OBJECTIVE: To investigate the repercussions of the war in Ukraine on people with epilepsy (PWE), focusing on access to health care, seizure control, quality of life (QoL), psychological distress, anxiety, and depression; and to identify the key factors influencing these measures. METHODS: Consecutive PWE, ≥18 years of age, presenting to one of seven health centers across Ukraine were invited to complete a self-administered survey in 2023. The survey gathered information on clinical and demographic aspects, geographic displacement, and access to care and medications. It also contained five valid questionnaires exploring psychological distress (Kessler-10), QoL with the EuroQOL-5D-5L (EQ-5D-5L), depression with the Neurological Disorders in Epilepsy scale (NDDIE), anxiety with the Hospital Anxiety and Depression Scalae-Anxiety (HADS-A), and epilepsy severity with the Global Assessment of the Severity of Epilepsy scale (GASE). Multivariate linear regression models assessed the relationship between measures of mental health and QoL and their potential predictors. Ethical approval was obtained from the Institute of Neurology, Psychiatry and Narcology of NAMS of Ukraine, Ukraine. RESULTS: Among 305 participants (mean age 38 years), 40% were female and 44% had to change residence because of the war. Seizures worsened during the war in 52% of those with active epilepsy and 42% of those with well-controlled epilepsy. Difficulties accessing health care and anti-seizure medications occurred in 25% and 34% of PWE, respectively, and was worse among those who were displaced. According to the mental health instruments, 46% suffered psychological distress, 62% experienced anxiety, 50% were depressed, and 59% rated their epilepsy as somewhat severe or worse. Statistically significant predictors of psychological distress, anxiety, and depression included female gender, more severe epilepsy, increased seizures during the war, and requiring mental health support. SIGNIFICANCE: The war significantly disrupted access to health care and availability of medication in PWE, who suffer from significant anxiety, depression, and psychological distress. We identify high-risk factors that can guide resource allocation for prevention and treatment.
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OBJECTIVE: Compare fasciculation rates between amyotrophic lateral sclerosis (ALS) patients and healthy controls in body regions relevant for diagnosing ALS using motor unit MRI (MUMRI) at baseline and 6 months follow-up, and relate this to single-channel surface EMG (SEMG). METHODS: Tongue, biceps brachii, paraspinals and lower legs were assessed with MUMRI and biceps brachii and soleus with SEMG in 10 healthy controls and 10 patients (9 typical ALS, 1 primary lateral sclerosis [PLS]). RESULTS: MUMRI-detected fasciculation rates in typical ALS patients were higher compared to healthy controls for biceps brachii (2.40 ± 1.90 cm-3min-1vs. 0.04 ± 0.10 cm-3min-1, p = 0.004), paraspinals (1.14 ± 1.61 cm-3min-1vs. 0.02 ± 0.02 cm-3min-1, p = 0.016) and lower legs (1.42 ± 1.27 cm-3min-1vs. 0.13 ± 0.10 cm-3min-1, p = 0.004), but not tongue (1.41 ± 1.94 cm-3min-1vs. 0.18 ± 0.18 cm-3min-1, p = 0.556). The PLS patient showed no fasciculation. At baseline, 6/9 ALS patients had increased fasciculation rates compared to healthy controls in at least 2 body regions. At follow-up every patient had increased fasciculation rates in at least 2 body regions. The MUMRI-detected fasciculation rate correlated with SEMG-detected fasciculation rates (τ = 0.475, p = 0.006). CONCLUSION: MUMRI can non-invasively image fasciculation in multiple body regions and appears sensitive to disease progression in individual patients. SIGNIFICANCE: MUMRI has potential as diagnostic tool for ALS.
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Esclerose Lateral Amiotrófica , Eletromiografia , Fasciculação , Imageamento por Ressonância Magnética , Humanos , Esclerose Lateral Amiotrófica/fisiopatologia , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Masculino , Feminino , Pessoa de Meia-Idade , Fasciculação/fisiopatologia , Fasciculação/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Idoso , Eletromiografia/métodos , Músculo Esquelético/fisiopatologia , Músculo Esquelético/diagnóstico por imagem , Adulto , Neurônios Motores/fisiologia , Língua/fisiopatologia , Língua/diagnóstico por imagemRESUMO
Magnetic resonance imaging (MRI) is routinely used in the musculoskeletal system to measure skeletal muscle structure and pathology in health and disease. Recently, it has been shown that MRI also has promise for detecting the functional changes, which occur in muscles, commonly associated with a range of neuromuscular disorders. This review focuses on novel adaptations of MRI, which can detect the activity of the functional sub-units of skeletal muscle, the motor units, referred to as "motor unit MRI (MUMRI)." MUMRI utilizes pulsed gradient spin echo, pulsed gradient stimulated echo and phase contrast MRI sequences and has, so far, been used to investigate spontaneous motor unit activity (fasciculation) and used in combination with electrical nerve stimulation to study motor unit morphology and muscle twitch dynamics. Through detection of disease driven changes in motor unit activity, MUMRI shows promise as a tool to aid in both earlier diagnosis of neuromuscular disorders and to help in furthering our understanding of the underlying mechanisms, which proceed gross structural and anatomical changes within diseased muscle. Here, we summarize evidence for the use of MUMRI in neuromuscular disorders and discuss what future research is required to translate MUMRI toward clinical practice. LEVEL OF EVIDENCE: 5 TECHNICAL EFFICACY: Stage 3.
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Workplace coaching has experienced a dramatic rise in popularity over the past decade and is one of the fastest growing performance-enhancing interventions used by modern organizations. Yet, despite its popularity, workplace coaching has not been the subject of much empirical research and a true science of coaching has yet to be developed. The purpose of this research was to update prior meta-analyzes that investigated the impact of coaching on organizational outcomes and to provide recommendations for how the field needs to evolve. Results indicated that, consistent with prior meta-analyzes, workplace coaching is effective in achieving positive organizational outcomes. The effects of several moderators were also investigated. Finally, we discuss the results in terms of recommendations for future directions that we believe will establish and advance the science of coaching.
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BACKGROUND: Motor units (MUs) control the contraction of muscles and degenerate with age. It is therefore of interest to measure whole muscle and MU twitch profiles in aging skeletal muscle. PURPOSE: Apply phase contrast MU MRI (PC-MUMRI) in a cohort of healthy adults to measure whole anterior compartment, individual muscles, and single MU twitch profiles in the calf. Assess the effect of age and sex on contraction and relaxation times. STUDY TYPE: Prospective cross-sectional study. SUBJECTS: Sixty-one healthy participants (N = 32 male; age 55 ± 16 years [range: 26-82]). FIELD STRENGTH/SEQUENCES: 3 T, velocity encoded gradient echo and single shot spin echo pulsed gradient spin echo, echo-planar imaging. ASSESSMENT: Anterior shin compartment (N = 47), individual muscle (tibialis anterior, extensor digitorum longus, peroneus longus; N = 47) and single MU (N = 34) twitch profiles were extracted from the data to calculate contraction and relaxation times. STATISTICAL TESTS: Multivariable linear regression to investigate relationships between age, sex and contraction and relaxation times of the whole anterior compartment. Pearson correlation to investigate relationships between age and contraction and relaxation times of individual muscles and single MUs. A P value <0.05 was considered statistically significant. RESULTS: Age and sex predicted significantly increased contraction and relaxation time for the anterior compartment. Females had significantly longer contraction times than males (females 86 ± 8 msec, males 80 ± 9 msec). Relaxation times were longer, not significant (females 204 ± 36 msec, males 188 ± 34 msec, P = 0.151). Contraction and relaxation times of single MUs showed no change with age (P = 0.462, P = 0.534, respectively). DATE CONCLUSION: Older participants had significantly longer contraction and relaxation times of the whole anterior compartment compared to younger participants. Females had longer contraction and relaxation times than males, significant for contraction time. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 1.
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Stereotactic radiosurgery is an established focal treatment for brain metastases with high local control rates. An important side-effect of stereotactic radiosurgery is the development of radionecrosis. On conventional MR imaging, radionecrosis and tumour progression often have similar appearances, but have contrasting management approaches. Perfusion MR imaging is often used in the post-treatment setting in order to help distinguish between the two, but image interpretation can be fraught with challenges.Perfusion MR plays an established role in the baseline and post-treatment evaluation of primary brain tumours and a number of studies have concentrated on the value of perfusion imaging in brain metastases. Of the parameters generated, relative cerebral blood volume is the most widely used variable in terms of its clinical value in differentiating between radionecrosis and tumour progression. Although it has been suggested that the relative cerebral blood volume tends to be elevated in active metastatic disease following treatment with radiosurgery, but not with treatment-related changes, the literature available on interpretation of the ratios provided in the context of defining tumour progression is not consistent.This article aims to provide an overview of the role perfusion MRI plays in the assessment of brain metastases and introduces the rationale for the STARBEAM-X study (Study of assessment of radionecrosis in brain metastases using MR perfusion extra imaging), which will prospectively evaluate baseline perfusion imaging in brain metastases. We hope this will allow insight into the vascular appearance of metastases from different primary sites, and aid in the interpretation of post-treatment perfusion imaging.
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Neoplasias Encefálicas , Radiocirurgia , Humanos , Radiocirurgia/métodos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética , PerfusãoRESUMO
Objective: Mammographic screening for breast cancer is an early use case for artificial intelligence (AI) in healthcare. This is an active area of research, mostly focused on the development and evaluation of individual algorithms. A growing normative literature argues that AI systems should reflect human values, but it is unclear what this requires in specific AI implementation scenarios. Our objective was to understand women's values regarding the use of AI to read mammograms in breast cancer screening. Methods: We ran eight online discussion groups with a total of 50 women, focused on their expectations and normative judgements regarding the use of AI in breast screening. Results: Although women were positive about the potential of breast screening AI, they argued strongly that humans must remain as central actors in breast screening systems and consistently expressed high expectations of the performance of breast screening AI. Women expected clear lines of responsibility for decision-making, to be able to contest decisions, and for AI to perform equally well for all programme participants. Women often imagined both that AI might replace radiographers and that AI implementation might allow more women to be screened: screening programmes will need to communicate carefully about these issues. Conclusions: To meet women's expectations, screening programmes should delay implementation until there is strong evidence that the use of AI systems improves screening performance, should ensure that human expertise and responsibility remain central in screening programmes, and should avoid using AI in ways that exacerbate inequities.
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Antimicrobial resistance makes the misuse of antibiotics in residential aged care facilities (RACFs) a significant concern. Family members influence antibiotic prescribing for RACF residents, but there is limited understanding of the beliefs and knowledge that drive their involvement. Drawing on a fictional scenario, forty-six participants with a parent aged 75 or over took part in eight dialogue groups exploring family members' perspectives on antibiotic use and risks in older relatives. Main themes were identified using framework analysis. Participants supported judicious use of antibiotics in RACFs, but perceived vulnerabilities of older people, both structural and physiological prompt family pressure for antibiotics. Empirical antibiotic use became more acceptable when pathways to a prompt diagnosis are not apparent or confidence in RACF monitoring and care is lacking. The role of antibiotics in end-of-life decision-making was significantly under-recognised. Overall, elevation of discussion around antibiotics and end of life care are required.
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Gestão de Antimicrobianos , Idoso , Humanos , Austrália , Instituição de Longa Permanência para Idosos , Família , Antibacterianos/uso terapêuticoRESUMO
BACKGROUND AND OBJECTIVE: Addressing adverse social determinants of health is an upstream approach to potentially improve child health outcomes and health equity. We aimed to determine if systematically screening and referring for social needs in hospitalized pediatric patients increased families' enrollment in publicly available resources. METHODS: Randomized controlled trial at a large urban children's hospital enrolled English-speaking caregivers of patients 0 to 36 months of age on the general pediatrics service from June 2016 to July 2017. The intervention arm received the WE CARE Houston social needs intervention (screener and resource referrals based on screening results and receptiveness to help); the control arm received standard of care. Baseline social risk data were collected for all participants. Caregivers who screened positive for mental health need, substance abuse, or domestic violence received additional support, including from social workers. The primary outcome was enrollment in resources at 6 months postdischarge. Univariate and multivariable analysis was performed to identify associations. RESULTS: Our study sample consisted of 413 caregivers from diverse sociodemographic/socioeconomic backgrounds. Overall, 85% of study participants had ≥1 social risk (median 2, range 0-9). WE CARE Houston identified caregiver employment, health insurance, primary care physician, depression, childcare, smoking, and food resources as the most prevalent social needs. Among these, caregivers were most receptive to resources for childcare, mental health, health insurance, and primary care. There was no significant difference in enrollment in new resources by study arm. CONCLUSION: Screening for social needs in the hospital is feasible and can result in the identification of social needs, but further work is needed to successfully address these needs.
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Assistência ao Convalescente , Programas de Rastreamento , Criança , Humanos , Alta do Paciente , Fumar , Cuidadores/psicologiaRESUMO
Novel events catch our attention, which can influence performance of a task. Whether this attentional capture by novelty benefits or impairs performance depends on several factors, such as the relevance of the stimulus, task requirements, and the timing of the event. Additionally, it has been argued that novel stimuli can hold intrinsic reward value, which may directly affect approach motivation, similar to positive valence stimuli. This link between novelty and approach/avoid behaviour has not been investigated directly. Here, we investigated whether stimulus novelty interacts with response behaviour in an approach/avoidance task, and whether these effects depend on the task relevance of novelty and stimulus timing. In experiment 1, participants gave an approach or avoid response dependent on a shape (diamond or square) presented at different stimulus onset asynchronies (SOA) following a novel or familiar scene (target-irrelevant novelty). In experiment 2, participants had to approach or avoid a novel or familiar image depending on the content (indoor/outdoor; target-related novelty). A shape was presented at different SOA. Results of a linear mixed model showed novelty-induced performance costs as demonstrated by longer RT and lower accuracy when novelty was target-relevant, likely due to attentional lingering at novel images. When images were target-irrelevant, approach but not avoid responses were faster for familiar versus novel images at 200 ms SOA only. Thus, novelty had a differentially pronounced detrimental effect on performance. These observations confirm that processing of novel stimuli generally depends on stimulus relevance, and tentatively suggests that differential processing of novel and familiar images is intensified by motivated approach behaviour.
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Atenção , Motivação , Humanos , Atenção/fisiologia , Recompensa , Comportamento de Escolha , Tempo de Reação/fisiologiaRESUMO
Substantia nigra (SN) hyperechogenicity, viewed with transcranial ultrasound, is a risk marker for Parkinson's disease. We hypothesized that SN hyperechogenicity in healthy adults aged 50-70 years is associated with reduced short-interval intracortical inhibition in primary motor cortex, and that the reduced intracortical inhibition is associated with neurochemical markers of activity in the pre-supplementary motor area (pre-SMA). Short-interval intracortical inhibition and intracortical facilitation in primary motor cortex was assessed with paired-pulse transcranial magnetic stimulation in 23 healthy adults with normal (n = 14; 61 ± 7 yrs) or abnormally enlarged (hyperechogenic; n = 9; 60 ± 6 yrs) area of SN echogenicity. Thirteen of these participants (7 SN- and 6 SN+) also underwent brain magnetic resonance spectroscopy to investigate pre-SMA neurochemistry. There was no relationship between area of SN echogenicity and short-interval intracortical inhibition in the ipsilateral primary motor cortex. There was a significant positive relationship, however, between area of echogenicity in the right SN and the magnitude of intracortical facilitation in the right (ipsilateral) primary motor cortex (p = .005; multivariate regression), evidenced by the amplitude of the conditioned motor evoked potential (MEP) at the 10-12 ms interstimulus interval. This relationship was not present on the left side. Pre-SMA glutamate did not predict primary motor cortex inhibition or facilitation. The results suggest that SN hyperechogenicity in healthy older adults may be associated with changes in excitability of motor cortical circuitry. The results advance understanding of brain changes in healthy older adults at risk of Parkinson's disease.
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Excitabilidade Cortical , Córtex Motor , Doença de Parkinson , Humanos , Idoso , Córtex Motor/diagnóstico por imagem , Doença de Parkinson/diagnóstico por imagemRESUMO
Objective: The primary purpose of this study was to investigate the immediate and long-term effects of Nordic Walking (NW) exercise on walking function, motor/non-motor Parkinson's Disease (PD) symptoms, and serum brain-derived neurotrophic factor (BDNF) in persons with idiopathic PD. Methods: Twelve community-dwelling participants with mild to moderate idiopathic PD and varied degrees of gait dysfunction were recruited for this prospective, repeated measures design that examined clinical measures and BDNF levels at baseline (T0), post-intervention (T1) and 3-month follow-up (T2). Participants engaged in 6 weeks of supervised NW exercise training with individualized instruction, followed by 14 weeks of independent NW exercise with remote coaching. Outcome measurements included daily step counts, 6-Minute Walk Test (6-MinWT), 10-Meter Walk Test (10MWT), spatiotemporalparameters, Timed Up and Go Test (TUG), dual-task TUG, Revised-Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Revised-Freezing of Gait Questionnaire, MDS-Nonmotor Symptom scale (NMS), Parkinson's Fatigue Scale, and serum BDNF levels. The Friedman test with post hoc Wilcoxon sign-ranked pairwise comparisons were used to compare baseline to T1, baseline to T2, and T1 to T2 timepoints with a Benjamini-Hockberg correction applied. Results: Statistically significant improvements found post-training and retained at 3-month follow-up included 6-MinWT, daily step count, 10mWT, MDS-UPDRS, and TUG with effect sizes of 0.57 to 1.03. Serum BDNF at T2 was significantly greater than T0 and T1. Although no statistically significant improvements were observed in the MDS-NMS, 9 of 12 participants had improved non-motor symptoms. There was good adherence, sustained independent exercise engagement, and no adverse events over the 5-month study duration. Conclusions: This study demonstrated that NW exercise was a safe, feasible, and sustainable mode of aerobic exercise for this sample of participants with varied Parkinson's disease duration and severity. Following an individualized and progressive NW training intervention, significant improvements in walking function, daily activity level, and motor function were observed. Following the supervised NW training phase, independent three-month engagement in NW exercise was sustained with long-term retention of these clinical improvements and an increase in serum BDNF levels over this five-month NW exercise trial. Impact: Nordic walking exercise may be a safe, feasible and sustainable mode of independent exercise for improving daily ambulatory activity, gait and motor function, and serum BDNF in individuals with mild to moderate PD with varied gait abilities. Clinical Trials Registry ID: 20-101-H.
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INTRODUCTION/AIMS: Measuring the spatial dimensions of a single motor unit remains a challenging problem, and current techniques, such as scanning electromyography (EMG), tend to underestimate the true dimensions. In this study we aimed to estimate more accurately the dimensions of a single motor unit by developing a clinically applicable scanning EMG protocol that utilizes ultrasound imaging to visualize and target a transect through the center of a single motor unit. METHODS: Single motor unit twitches in the tibialis anterior muscles of healthy volunteers were elicited via stimulation of the fibular nerve, visualized with ultrasound, and targeted with an intramuscular EMG electrode. The electrode was moved by hand in small steps through the motor unit territory. Ultrasound video output was synchronized to EMG capture, and the needle position was tracked at each step. RESULTS: Eight recordings from six participants were collected. The technique was quick and easy to perform (mean time, 6.1 minutes) with reasonable spatial resolution (mean step size, 1.85 mm), yielding motor unit territory sizes between 1.53 and 14.65 mm (mean, 7.15 mm). DISCUSSION: Ultrasound-guided motor unit scanning EMG is a quick and accurate method for obtaining a targeted motor unit transect. This combination of two readily available clinical tools provides insights into the dimensions and internal structure of the motor unit as a marker for neuromuscular conditions.
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Doenças Neuromusculares , Humanos , Eletromiografia/métodos , Músculo Esquelético/fisiologia , Ultrassonografia , Ultrassonografia de IntervençãoRESUMO
OBJECTIVE: To assess in-vivo cross-sectional and 3D morphology of human motor units in hand, forearm and lower leg muscles using magnetic resonance imaging (MRI). METHODS: Diffusion weighted MRI was used with in-scanner electrical stimulation in healthy controls to image motor units at a single slice in lower leg, forearm and hand muscles (n = 6) and multiple slices in the lower leg for 3D assessment (n = 7). RESULTS: Motor unit cross-sectional area (CSA) and maximum Feret diameter (FDmax) did not differ between the lower leg (CSA: 22.4 ± 8.4 mm2; FDmax: 8.7 ± 2.4 mm), forearm (CSA: 23.6 ± 14.1 mm2; FDmax: 9.0 ± 3.3 mm) and hand (CSA: 26.8 ± 12.8 mm2 and FDmax: 9.6 ± 2.7 mm) (ANOVA; p = 0.487 and p = 0.587, respectively). Lower leg motor units were 8.0 ± 3.8 cm long with largest CSA in the motor unit's middle section. 3D motor unit imaging revealed a complex structure with several units splitting and re-forming along their length. CONCLUSIONS: Motor unit MRI (MUMRI) can be applied to upper limb muscles, and can reveal the 3D structure of human motor units in-vivo. SIGNIFICANCE: MUMRI provides the first in-vivo 2D images of upper limb motor units and 3D images of lower leg motor units. 3D imaging suggest a more complex human motor unit structure than previously thought.
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Imageamento Tridimensional , Córtex Motor , Eletromiografia/métodos , Humanos , Perna (Membro)/fisiologia , Extremidade Inferior , Córtex Motor/fisiologia , Músculo Esquelético/diagnóstico por imagemRESUMO
Recent social science scholarship has sought to understand the visible and invisible impacts of how antibiotics are entrenched as infrastructures and put to work as a proxy for higher levels of care (clinical or otherwise) within modern healthcare. Using a qualitative research design, in this paper our aim is to draw attention to less visible aspects of antimicrobial stewardship (AMS) in residential aged care and their implications for nurse-led optimization of antibiotic use in these settings. By developing an account of the perceptions, experiences and practices of staff regarding the 'on the ground' work associated with implementing and upholding AMS objectives our study extends research on attempts to dismantle antibiotic infrastructures in Australian residential aged care facilities (RACF). Drawing on a review of relevant policies, empirical data is presented from fifty-six in-depth interviews conducted in 2021 with staff at 8 different RACFs. Interview participants included managers, nurses, and senior and junior personal care assistants. Our results suggest that registered nurses in residential aged care have been tasked with promoting antibiotic optimization and assigned with AMS responsibilities without sufficient authority and resourcing. A host of hidden care work associated with AMS strategies was evident, reinforcing some staff support for empirical antibiotic prescribing as a 'safety net' in uncertain clinical cases. We argue that this hidden work occurs where AMS strategies displace the infrastructural role previously performed by antibiotics, exposing structural gaps and pressures. The inability of organisational accounting systems and the broader AMS policy agenda to capture hidden AMS workflows in RACFs has consequences for future resourcing and organisational learning in ways that mean AMS gaps may remain unaddressed. These results support findings that AMS interventions might not be easily accepted by aged care staff in view of associated burdens which are under recognised and under supported in this domain.
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Gestão de Antimicrobianos , Idoso , Antibacterianos/uso terapêutico , Austrália , Atenção à Saúde , Humanos , Pesquisa QualitativaRESUMO
In this retrospective, multicentre, observational cohort study, we sought to determine the clinical, radiological, EEG, genetics and neuropathological characteristics of mitochondrial stroke-like episodes and to identify associated risk predictors. Between January 1998 and June 2018, we identified 111 patients with genetically determined mitochondrial disease who developed stroke-like episodes. Post-mortem cases of mitochondrial disease (n = 26) were identified from Newcastle Brain Tissue Resource. The primary outcome was to interrogate the clinico-radiopathological correlates and prognostic indicators of stroke-like episode in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). The secondary objective was to develop a multivariable prediction model to forecast stroke-like episode risk. The most common genetic cause of stroke-like episodes was the m.3243A>G variant in MT-TL1 (n = 66), followed by recessive pathogenic POLG variants (n = 22), and 11 other rarer pathogenic mitochondrial DNA variants (n = 23). The age of first stroke-like episode was available for 105 patients [mean (SD) age: 31.8 (16.1)]; a total of 35 patients (32%) presented with their first stroke-like episode ≥40 years of age. The median interval (interquartile range) between first and second stroke-like episodes was 1.33 (2.86) years; 43% of patients developed recurrent stroke-like episodes within 12 months. Clinico-radiological, electrophysiological and neuropathological findings of stroke-like episodes were consistent with the hallmarks of medically refractory epilepsy. Patients with POLG-related stroke-like episodes demonstrated more fulminant disease trajectories than cases of m.3243A>G and other mitochondrial DNA pathogenic variants, in terms of the frequency of refractory status epilepticus, rapidity of progression and overall mortality. In multivariate analysis, baseline factors of body mass index, age-adjusted blood m.3243A>G heteroplasmy, sensorineural hearing loss and serum lactate were significantly associated with risk of stroke-like episodes in patients with the m.3243A>G variant. These factors informed the development of a prediction model to assess the risk of developing stroke-like episodes that demonstrated good overall discrimination (area under the curve = 0.87, 95% CI 0.82-0.93; c-statistic = 0.89). Significant radiological and pathological features of neurodegeneration were more evident in patients harbouring pathogenic mtDNA variants compared with POLG: brain atrophy on cranial MRI (90% versus 44%, P < 0.001) and reduced mean brain weight (SD) [1044 g (148) versus 1304 g (142), P = 0.005]. Our findings highlight the often idiosyncratic clinical, radiological and EEG characteristics of mitochondrial stroke-like episodes. Early recognition of seizures and aggressive instigation of treatment may help circumvent or slow neuronal loss and abate increasing disease burden. The risk-prediction model for the m.3243A>G variant can help inform more tailored genetic counselling and prognostication in routine clinical practice.
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Síndrome MELAS , Doenças Mitocondriais , Acidente Vascular Cerebral , Adulto , DNA Mitocondrial/genética , Humanos , Síndrome MELAS/genética , Doenças Mitocondriais/complicações , Doenças Mitocondriais/genética , Mutação , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/genéticaRESUMO
Mobile phone-based applications (apps) can promote faster targeted actions to control COVID-19. However, digital contact tracing systems raise concerns about data security, system effectiveness, and their potential to normalise privacy-invasive surveillance technologies. In the absence of mandates, public uptake depends on the acceptability and perceived legitimacy of using technologies that log interactions between individuals to build public health capacity. We report on six online deliberative workshops convened in New South Wales to consider the appropriateness of using the COVIDSafe app to enhance Australian contact tracing systems. All groups took the position (by majority) that the protections enacted in the app design and supporting legislation were appropriate. This support is contingent on several system attributes including: the voluntariness of the COVIDSafe app; that the system relies on proximity rather than location tracking; and, that data access is restricted to local public health practitioners undertaking contact tracing. Despite sustained scepticism in media coverage, there was an underlying willingness to trust Australian governing institutions such that in principle acceptance of the new contact tracing technology was easy to obtain. However, tensions between the need to prove system effectiveness through operational transparency and requirements for privacy protections could be limiting public uptake. Our study shows that informed citizens are willing to trade their privacy for common goods such as COVID-19 suppression. But low case numbers and cautionary public discourses can make trustworthiness difficult to establish because some will only do so when it can be demonstrated that the benefits justify the costs to individuals.
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COVID-19 , Aplicativos Móveis , Austrália/epidemiologia , COVID-19/epidemiologia , COVID-19/prevenção & controle , Busca de Comunicante , Humanos , PrivacidadeRESUMO
Educating the public about antimicrobial resistance (AMR) is considered a key part of an optimal public health response. In both media depictions and policy discourses around health risks, how a problem is framed underpins public awareness and understanding, while also guiding opinions on what actions can and should be taken. Using a mixed methods approach we analyse newspaper content in Australia and the United Kingdom (UK) from 2011 to 2020 to track how causes, consequences and solutions to AMR are represented in countries with different policy approaches. Analyses demonstrate greater variability in the frames used in UK newspapers reflecting large hospital and community outbreaks and a sustained period of policy reform mid-decade. Newspapers in Australia focus more on AMR causes and consequences, highlighting the importance of scientific discovery, whereas UK coverage has greater discussion of the social and economic drivers of AMR and their associated solutions. Variations in the trends of different frames around AMR in UK newspapers indicate greater levels of public deliberation and debate around immediate and actionable solutions; whereas AMR has not had the same health and political impacts in Australia resulting in a media framing that potentially encourages greater public complacency about the issue.
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The coronavirus disease 2019 (COVID-19) pandemic has affected the care of all patients around the world. The International League Against Epilepsy (ILAE) COVID-19 and Telemedicine Task Forces examined, through surveys to people with epilepsy (PWE), caregivers, and health care professionals, how the pandemic has affected the well-being, care, and services for PWE. The ILAE included a link on their website whereby PWE and/or their caregivers could fill out a survey (in 11 languages) about the impact of the COVID-19 pandemic, including access to health services and impact on mental health, including the 6-item Kessler Psychological Distress Scale. An anonymous link was also provided whereby health care providers could report cases of new-onset seizures or an exacerbation of seizures in the context of COVID-19. Finally, a separate questionnaire aimed at exploring the utilization of telehealth by health care professionals since the pandemic began was available on the ILAE website and also disseminated to its members. Seventeen case reports were received; data were limited and therefore no firm conclusions could be drawn. Of 590 respondents to the well-being survey (422 PWE, 166 caregivers), 22.8% PWE and 27.5% caregivers reported an increase in seizure frequency, with difficulty in accessing medication and health care professionals reported as barriers to care. Of all respondents, 57.1% PWE and 21.5% caregivers had severe psychological distress (k score >13), which was significantly higher among PWE than caregivers (p<0.01). An increase in telemedicine use during the COVID-19 pandemic was reported by health care professionals, with 40% of consultations conducted by this method. Although 74.9% of health care providers thought that this impacted positively, barriers to care were also identified. As we move forward, there is a need to ensure ongoing support and care for PWE to prevent a parallel pandemic of unmet health care needs.