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This paper extends our understanding of how casino patrons are affected by COVID-19 restrictions and how they cope by substituting gambling with alcohol consumption. We conducted two studies using a nationwide survey sample collected in Australia during the pandemic lockdown. Study 1 compares the casino patrons with two reference groups (other gambling patrons and non-gambling individuals) and investigates the lockdown restrictions on respondents' relational strength, and their potential impact on mental health and future prospects. Study 2 applies the stress-response dampening model (SRD) and tests how respondents used alcohol consumption to cope with the lack of access to casinos during the lockdown. The results from Study 1 suggest that lockdown restrictions on respondents' relational strength have significant negative impacts on anxiety, life satisfaction and post-pandemic outlook. Study 2 finds that casino patrons substituted gambling with alcohol consumption during the lockdown, with increased alcohol consumption negatively related to life satisfaction. Paradoxically, Australian gambling venue owners may not be adversely affected as many also run liquor retail operations.
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COVID-19 , Juego de Azar , Humanos , Juego de Azar/psicología , Australia , Control de Enfermedades Transmisibles , Consumo de Bebidas AlcohólicasRESUMEN
Telemedicine has been widely implemented during the COVID-19 global pandemic to enable continuity of care of chronic illnesses. We modified our general neurology clinic to be conducted using remote audio-only telephone consultations. We included all patients over a 10-week period who agreed to both a telephone consultation and a questionnaire afterwards in order to ascertain the patient's perspective of the experience. There were 212 participants consisting of men (43.8%) and women (56.2%). The mean ± standard deviation of age was 47.8 ± 17.0 (range 17-93) years. For the most part, patients found remote consultations either "just as good" (67.1%) or "better" (9.0%) than face-to-face consultations. Those who deemed it to be "not as good" were significantly older (52.3 ± 17.9 years vs. 46.6 ± 16.6 years, p =0.045) or were more likely to have a neurological disorder that required clinical examination, namely, a neuromuscular condition (66.7%, p = 0.002) or an undiagnosed condition (46.7%, p = 0.031). At the height of the COVID-19 global pandemic, most patients were satisfied with remote consultations. The positive feedback for remote consultations needs to be verified outside of this unique scenario because the results were likely influenced by the patients' apprehension to attend the hospital amongst other factors.
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COVID-19 , Neurología , Satisfacción del Paciente , Telemedicina , Teléfono , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Atención Ambulatoria , Instituciones de Atención Ambulatoria , Epilepsia , Femenino , Trastornos de Cefalalgia , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento , Esclerosis Múltiple , Enfermedades Neuromusculares , Pandemias , Enfermedades del Sistema Nervioso Periférico , SARS-CoV-2 , Factores Sexuales , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Friedreich's ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25-39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich's ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Also, there may be atypical features such as spasticity, brisk reflexes and laryngeal dystonia. We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich's ataxia and discuss the pitfalls and risk of misdiagnosis.
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Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/genética , Ataxia de Friedreich/diagnóstico por imagen , Ataxia de Friedreich/genética , Factores de Edad , Femenino , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.
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Salud de la Familia , Parálisis Periódica Hipopotasémica/fisiopatología , Anciano , Canales de Calcio/genética , Femenino , Humanos , Parálisis Periódica Hipopotasémica/diagnóstico por imagen , Parálisis Periódica Hipopotasémica/genética , Imagen por Resonancia Magnética , Mutación/genética , FenotipoRESUMEN
Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity. We describe a patient who presented with features of both ataxia and spasticity, in whom initial diagnostic testing was inconclusive. Ultimately next generation exome sequencing identified homozygosity for a pathogenic variant in exon 13 of the CAPN1 gene c.1534C>T(p.Arg512Cys). This case supports consideration of a less discriminatory classification system among such patients, potentially allowing for more expedient diagnosis through testing of a larger gene panel along the 'ataxia-spasticity spectrum'.
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Calpaína/genética , Mutación/genética , Paraplejía Espástica Hereditaria/genética , Ataxias Espinocerebelosas/genética , Adulto , Salud de la Familia , Femenino , Humanos , Imagen por Resonancia Magnética , Fenotipo , Paraplejía Espástica Hereditaria/complicaciones , Paraplejía Espástica Hereditaria/diagnóstico por imagen , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/diagnóstico por imagenRESUMEN
High levels of cardiovascular fitness and physical activity are associated with higher levels of cognitive function in people with HIV, thus, they may reduce the risk of developing HIV-associated neurocognitive disorder (HAND). This study aimed to investigate the effects of a 16-week aerobic exercise intervention on cognitive function in people with HIV. Eleven participants living with HIV were recruited into the study. Participants were randomised into either an exercise group (n = 5), that completed a 16-week aerobic exercise programme training, 3 times per week (2 supervised sessions and one unsupervised session) or a control group (n = 6) that received no intervention. Outcomes measured included cognitive function (Montreal cognitive assessment (MOCA) and the Trail making tests A and B), aerobic fitness (modified Bruce protocol), sleep quality (Pittsburgh sleep quality index; PSQI) and physical activity levels (seven-day accelerometry). At baseline, higher levels of moderate physical activity were positively correlated with higher MOCA scores and levels of aerobic fitness were negatively associated with Trail A scores (P = 0.04 and P = 0.001 respectively). However, exercise training did not induce any significant improvements in cognitive function or aerobic fitness. The overall mean adherence rate to the exercise programme was 60%. In conclusion, in the present study a 16-week aerobic exercise intervention did not affect the cognitive function of participants with HIV. It is likely that longer intervention periods and/or higher adherence rates to exercise might be needed for an aerobic exercise programme to be effective in improving cognitive function in a cohort with no baseline cognitive impairments.
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Trastornos del Conocimiento/rehabilitación , Cognición/fisiología , Terapia por Ejercicio , Ejercicio Físico/fisiología , Infecciones por VIH/rehabilitación , Complejo SIDA Demencia/fisiopatología , Complejo SIDA Demencia/prevención & control , Acelerometría , Adulto , Trastornos del Conocimiento/fisiopatología , Estudios de Cohortes , Femenino , Infecciones por VIH/fisiopatología , Humanos , Masculino , Aptitud Física/fisiologíaRESUMEN
BACKGROUND/AIM: This study explored how occupational therapists in private practice developed the business skills needed to operate a successful private practice. The literature shows that many small-business owner-managers have poorly developed business skills, and some experience high rates of failure. This indicates that to be successful in private practice, occupational therapists need to gain mastery of management competencies in addition to their professional clinical competencies. METHODS: A qualitative study, using in-depth interviews, collected data from twenty-six self-employed occupational therapists on their experiences of becoming a small-business owner-manager. A narrative analysis built an understanding about how these therapists developed their business competencies. RESULTS: Analysis revealed the factors affecting the development of business competencies were interactions between the initial motivations for start-up, growth aspirations and engagement with external business environments. Business competencies developed through a combination of formal learning prior to starting their businesses, and informal learning once their businesses were in operation. Lower level learning occurred in the routine and operational processes, with higher level learning through discontinuous events resulting in a transformation in the therapists' understanding about themselves as business owner-managers. CONCLUSIONS: Findings led to a proposition that occupational therapists make the transition to becoming successful small-business owner-manager through management learning that includes elements of self-reflection, identifying environmental opportunities and risks, developing capabilities, and strategic planning for growth and development. It provides insights on what occupational therapists need to consider to become successful small-business owner-managers.
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Empleo/organización & administración , Enfermedades Profesionales/rehabilitación , Terapeutas Ocupacionales/psicología , Terapia Ocupacional/organización & administración , Práctica Privada/organización & administración , Competencia Clínica , Humanos , Investigación CualitativaRESUMEN
Increasing use of nitrous oxide as a recreational drug has been reported among young adults in western countries over the past decade. We present two cases of young males presenting to the Emergency Department (ED) of a large urban university hospital in Dublin with progressive neurological dysfunction related to nitrous oxide use. We review the pathophysiology, clinical features and treatment of nitrous oxide neurotoxicity. It is important that clinicians are aware of this evolving public health issue and are able to recognize the clinical features of this rare presentation, which may become more common in Irish EDs and GP surgeries as nitrous oxide abuse becomes more prevalent.
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Óxido Nitroso , Salud Pública , Masculino , Adulto Joven , Humanos , Óxido Nitroso/efectos adversos , Servicio de Urgencia en HospitalRESUMEN
OBJECTIVE: The disease-modifying therapies (DMT), dimethyl fumarate (DMF) and fingolimod (FTY) improve the outcomes in multiple sclerosis (MS) by reducing relapses and numbers and volume of lesions. They mediate their effects through reduction of immune reactivation, which may potentially lead to lymphopaenia and increased risk of infections. Previous studies have examined the effects of these therapies on lymphocyte subsets; however, the in vivo effects on circulating lymphocyte proliferation require further elucidation. The aim of this study was to determine the effects of DMF and FTY on T-cell proliferation in patients with MS. METHOD: We examined T-cell lymphocyte proliferation and lymphocyte subsets in ten patients (five on DMF, five on FTY) before starting DMT and again 4 to 11 months after being maintained on DMT. RESULTS: In the FTY-treated group, the mean percentage proliferation was significantly lower using both assays (PHA assay mean percentage change - 51.2 ± 25.97, p < 0.05; anti-CD3/CD28 assay mean percentage change - 39.74 ± 27.85, p < 0.05). There was no statistical difference in T-cell lymphocyte proliferation in the DMF-treated group for either assay (PHA, p = 0.316; anti-CD3/CD28, p = 0.373). CONCLUSIONS: This pilot study suggests that the T-lymphocytes of patients on FTY have an abnormal proliferation response as well as being reduced in the circulation.
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Clorhidrato de Fingolimod , Esclerosis Múltiple , Humanos , Clorhidrato de Fingolimod/efectos adversos , Dimetilfumarato/efectos adversos , Esclerosis Múltiple/tratamiento farmacológico , Antígenos CD28 , Proyectos Piloto , Inmunosupresores/efectos adversos , Resultado del Tratamiento , Linfocitos , Proliferación CelularAsunto(s)
Proteínas Reguladoras de la Apoptosis , Hemangioma Cavernoso del Sistema Nervioso Central , Adulto , Humanos , Proteínas Reguladoras de la Apoptosis/genética , Genotipo , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Imagen por Resonancia Magnética , Proteínas de la Membrana/genética , Proteínas Proto-Oncogénicas/genéticaRESUMEN
Background: Magnetic resonance imaging is a key diagnostic and monitoring tool in multiple Sclerosis (MS). While the substrates of motor and neuropsychological symptoms in MS have been extensively investigated, nystagmus-associated imaging signatures are relatively under studied. Accordingly, the objective of this study is the comprehensive characterisation of cortical, subcortical, and brainstem involvement in a cohort of MS patients with gaze-evoked nystagmus. Methods: Patients were recruited from a specialist MS clinic and underwent multimodal neuroimaging including high-resolution structural and diffusion tensor data acquisitions. Morphometric analyses were carried out to evaluate patterns of cortical, subcortical, brainstem, and cerebellar gray matter pathology. Volumetric analyses were also performed to further characterize subcortical gray matter degeneration. White matter integrity was evaluated using axial-, mean-, and radial diffusivity as well as fractional anisotropy. Results: Whole-brain morphometry highlighted considerable brainstem and cerebellar gray matter atrophy, and the tract-wise evaluation of white matter metrics revealed widespread pathology in frontotemporal and parietal regions. Nystagmus-associated gray matter degeneration was identified in medial cerebellar, posterior medullar, central pontine, and superior collicular regions. Volume reductions were identified in the putamen, thalamus and hippocampus. Conclusions: Multiple sclerosis is associated with widespread gray matter pathology which is not limited to cortical regions but involves striatal, thalamic, cerebellar, and hippocampal foci. The imaging signature of gaze-evoked nystagmus in MS confirms the degeneration of key structures of the neural integrator network.
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PURPOSE: This study aimed to determine the rate, cause and management of seizures in the context of potential ART-ASD interactions in a cohort of HIV + individuals. METHODS: Records of 604 HIV + patients were reviewed and those reporting epilepsy/seizure diagnosis were further evaluated. RESULTS: This cohort exhibited a seizure rate of 2.4%. HIV + patients treated for epilepsy displayed low serum ASD levels and failed to achieve seizure control. They were more likely to disengage from Neurology follow-up. CONCLUSION: For HIV + patients presenting with seizures/epilepsy the ASD prescription and the provision of supplementary support services needs to be carefully considered.
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Enfermedades de los Ganglios Basales , Encefalopatías , Calcinosis , Humanos , Genotipo , Calcinosis/diagnóstico por imagen , Calcinosis/genética , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/genética , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/metabolismo , Encefalopatías/diagnóstico por imagen , Encefalopatías/genética , Mutación , Linaje , Enfermedades de los Ganglios Basales/genéticaRESUMEN
BACKGROUND: Human immunodeficiency virus (HIV)-associated neurocognitive disorders occurs in 20%-50% of HIV-positive patients. We undertook this study to assess the prevalence of a positive screen for cognitive impairment in the clinic population at our institution and to demonstrate the feasibility of implementing a screening program in routine clinical encounters. METHODS: This was a cross-sectional study, and patients were recruited prospectively between December 2010 and February 2013. Inclusion criteria were as follows: patients were HIV positive, over the age of 18, capable of giving informed consent, and had sufficient ability to communicate in English. Patients were screened for cognitive impairment using the Brief Neurocognitive Screen. RESULTS: A total of 604 patients were recruited, and 51.5% had a positive screen for cognitive impairment. The majority of the study cohort were male (78.8%), mean age was 40.9 (standard deviation, 10.2) years, 70.9% were Irish, the most common mode of transmission was men who have sex with men (49.3%), 83% were on antiretroviral therapy, and 88.7% were virally suppressed. Logistic regression showed that the main factors predictive of a positive screen for cognitive impairment were the endorsement of cognitive symptoms (P = .024), being born in Africa (P < .000001), the use of benzodiazepines (P = .00341), being unemployed (P = .008), and consumption of more than 40 units of alcohol weekly (P = .035). There was a positive screen for depression in 9.1% and a positive screen for anxiety in 24.5%. CONCLUSIONS: The study highlights the necessity for a structured, prospective, large-scale screening program for cognitive impairment across countries with limited resources and demonstrates the feasibility of easily implementing this with minimal training.
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Lisencefalias Clásicas y Heterotopias Subcorticales en Banda , Humanos , Encéfalo/diagnóstico por imagen , Corteza Cerebral , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/diagnóstico por imagen , Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/genética , Proteínas del Citoesqueleto/genética , Imagen por Resonancia Magnética , Proteínas Asociadas a Microtúbulos/genética , Mutación , Mutación Missense , Proteínas de Fusión Oncogénica/genéticaRESUMEN
BACKGROUND: Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other. Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have an atypical phenotype with a slow disease progression, minimal or no ataxia, or gait spasticity. OBJECTIVE: To describe intrafamilial phenotypic variability in a GAA expansion/G130V mutation compound heterozygous family with FA. SETTING: Tertiary referral university hospital setting. PATIENTS AND METHODS: A 34-year-old man presented to our hospital with a 24-year history of stiff legs and mild unsteadiness of gait. Clinical examination showed a spastic paraparesis with normal to pathologically brisk deep tendon reflexes and mild left upper limb ataxia. His 27-year-old sister presented with a slowly progressive early-onset ataxic syndrome. She had ataxia of gait, mild to severe limb ataxia, and reduced or absent deep tendon reflexes, but no evidence of spasticity on examination. RESULTS: Neurophysiologic investigations showed evidence of a sensory axonal neuropathy, and molecular genetic analysis showed that both siblings were compound heterozygotes with a GAA expansion and a G130V mutation. CONCLUSIONS: This report confirms that compound heterozygous patients with FA who have a GAA expansion and a G130V mutation may present with an ataxic phenotype and that intrafamilial phenotypic variability in these pedigrees can occur. It also emphasizes the importance of performing molecular genetic analysis for the GAA trinucleotide expansion in patients presenting with a spastic paraparesis of undetermined etiology, especially when there is neurophysiologic evidence of a sensory axonal neuropathy.
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Cromosomas Humanos Par 9/genética , Ataxia de Friedreich/genética , Proteínas del Tejido Nervioso/genética , Repeticiones de Trinucleótidos/genética , Proteínas Adaptadoras Transductoras de Señales , Adulto , Ataxia/etiología , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Proteínas del Tejido Nervioso/análisis , Linaje , Fenotipo , Mutación Puntual , Reacción en Cadena de la PolimerasaRESUMEN
CONTEXT: Although herniation of a lumbosacral intervertebral disk is a major cause of sciatic distribution pain, relentlessly progressive symptoms or signs should alert one to the possibility of a tumor involving the nerve. OBJECTIVE: To describe the clinical, neurophysiological, and histological features of a pathologically unique tumor involving the sciatic nerve. SETTING: Tertiary referral university hospital. PATIENT: A 36-year-old woman was seen with a 6-year history of increasingly severe symptoms in the distribution of the left sciatic nerve. RESULTS: Electromyography indicated a sciatic nerve lesion in the region of the greater sciatic notch. Magnetic resonance imaging demonstrated a tumor involving the left sciatic nerve in this area. Light microscopy, electron microscopy, and immunohistochemistry results confirmed the presence of an atypical ganglion cell tumor of the sciatic nerve that exhibited prognostically conflicting clinical and histological features. CONCLUSIONS: To our knowledge, this is the first report of an atypical ganglion cell tumor affecting the sciatic nerve, and illustrates the value of detailed neurophysiological examination in localizing the site of peripheral nerve injury to facilitate focused neuroimaging when standard investigations are uninformative. Longer follow-up is required to determine the true biologic potential of this lesion.
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Ganglioneuroma/diagnóstico , Neoplasias de Tejido Nervioso/diagnóstico , Nervio Ciático , Adulto , Diagnóstico Diferencial , Electromiografía , Femenino , Ganglioneuroma/patología , Ganglioneuroma/fisiopatología , Humanos , Imagen por Resonancia Magnética , Neoplasias de Tejido Nervioso/patología , Neoplasias de Tejido Nervioso/fisiopatologíaRESUMEN
INTRODUCTION: Neurologic consequences of manganese toxicity have been recognized since 1837. A new form of presumed manganese poisoning has been reported in drug-addicted persons from Eastern Europe and the Baltic states who have intravenously injected self-prepared methcathinone hydrochloride (ephedrone), which is synthesized from pseudoephedrine hydrochloride using potassium permanganate as a potent oxidant. This clinical syndrome is under-recognized in Western Europe and there are no reported cases in the literature from Ireland. CASE PRESENTATION: We report a 30-year-old Eastern European man who presented with a two-year history of gait disturbance. A neurological assessment revealed features of parkinsonism which included hypophonia, hypomimia, mild bradykinesia and rigidity with no resting tremor. He held his arms slightly abducted from his sides when walking, with a reduction in arm swing. Magnetic resonance imaging of his brain showed a high signal on T1 in the globus pallidus and serum manganese levels were raised. He had no response to levodopa. CONCLUSION: Manganism secondary to ephedrone abuse causing parkinsonism has emerged in Western Europe in recent years due to mass immigration and often remains unrecognized. This paper highlights the various features of this rare cause of parkinsonism and aids in its recognition and subsequent diagnosis. Neurologists in Western Europe will increasingly encounter such patients.
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Participation by small and medium enterprise (SME) in corporate social responsibility issues has been found to be lacking. This is a critical issue, as individually SMEs may have little impact on the environment but their collective footprint is significant. The management style and ethical stance of the owner-manager affects business decision making and therefore has a direct impact on the environmental actions of the business. Although adoption of environmental practices to create competitive advantage has been advocated, many businesses see implementation as a cost which cannot be transferred to their customers. After a brief review of pertinent literature this paper reports on an exploratory investigation into the issue. Results show that whereas owner-managers of small enterprises express concern regarding the environment, this does not then translate into better waste management practices.