Reply to: "Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions"

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The emergence of Exercise Addiction, Body Dysmorphic Disorder, and other image-related psychopathological correlates in fitness settings: A cross sectional study.

INTRODUCTION: In a society that perpetuates the strive for a perfect appearance, a fit body has become synonymous with success, but simultaneously hard to achieve. This represents a fertile ground for the development of Exercise Addiction (EA) alongside other disorders, such as Body Dysmorphic Disorder (BDD). This study aims to explore the diffusion of EA in fitness settings in the United Kingdom, Italy, Netherlands, Hungary and the previously unexplored association with appearance anxiety, BDD, self-esteem and the use of fitness supplements. METHODS: A large cross-sectional sample (N = 1711) was surveyed in fitness settings using the Exercise Addiction Inventory (EAI), Appearance Anxiety Inventory (AAI) and Rosenberg's Self Esteem Scale (RSE) in addition to questions surrounding the use of fitness supplements. RESULTS: Compulsive exercise, appearance anxiety and low self-esteem were present in this sample according to the psychometric measures used (EAI, AAI, RSE). 11.7% scored over the cut off for EA, with alarming peaks in the Netherlands (20.9%) and the United Kingdom (16.1%). 38.5% were found at risk of BDD, mainly female (47.2%). 39.8% used fitness enhancing supplements without medical consultation (95.5%). This cohort of supplement users scored higher in both EAI and AAI. The logistic regression model revealed a strong association between the consumption of sport products and the level of EA across the sample with an odds ratio (OR) of 3.03. Other co-variable factors among female were appearance anxiety (AAI; OR 1.59) and to a lesser extent self-esteem (RSE) (OR 1.08). CONCLUSIONS: This study identified a high risk of EA, appearance anxiety and BDD amongst a cohort of gym users internationally. The previously-unexplored association between these disorders and the unsupervised use of a variety of fitness products, including illicit drugs, highlights the need for informed and integrated responses targeting such vulnerable individuals

Singing for Better Breathing: Findings from the Lambeth & Southwark Singing & COPD Project

Over the last eight years there has been a growth of interest in the potential value of participation in singing groups for people with chronic obstructive pulmonary disease (CODP) and other respiratory illnesses. This is shown by the increasing number of singing for breathing groups established across the UK over this period. The British Lung Foundation have taken a leading role in promoting this activity through their ‘Singing for Lung Health’ programme. A limited number of small-scale research studies have assessed the benefits of singing for people with COPD and other lung conditions. These include three randomised controlled trials, one in Brazil, and two conducted at the Royal Brompton Hospital in London. Further studies have been carried out in Canada, New Zealand, the UK and the USA. There is limited evidence that singing improves lung function and exercise capacity, but qualitative feedback from participants has been highly positive. Testimonies point to singing having substantial subjective benefits for physical, psychological and social wellbeing, and in enabling people with COPD to better manage their lung condition. The current study in Lambeth and Southwark, South London, was based on earlier research conducted in East Kent, UK. Morrison et al. (2013) established and evaluated a network of six community singing groups for people with COPD which ran over the course of ten months. Seventy-two people with COPD were followed up over this time and assessed using validated questionnaires, with St. George’s Respiratory Questionnaire (SGRQ) as the primary outcome measure. Spirometry was also used to assess lung function. Significant improvements were found on the total and impact scores from the SGRQ, and participants also improved in their lung function

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist

Iron Behaving Badly: Inappropriate Iron Chelation as a Major Contributor to the Aetiology of Vascular and Other Progressive Inflammatory and Degenerative Diseases

The production of peroxide and superoxide is an inevitable consequence of aerobic metabolism, and while these particular "reactive oxygen species" (ROSs) can exhibit a number of biological effects, they are not of themselves excessively reactive and thus they are not especially damaging at physiological concentrations. However, their reactions with poorly liganded iron species can lead to the catalytic production of the very reactive and dangerous hydroxyl radical, which is exceptionally damaging, and a major cause of chronic inflammation. We review the considerable and wide-ranging evidence for the involvement of this combination of (su)peroxide and poorly liganded iron in a large number of physiological and indeed pathological processes and inflammatory disorders, especially those involving the progressive degradation of cellular and organismal performance. These diseases share a great many similarities and thus might be considered to have a common cause (i.e. iron-catalysed free radical and especially hydroxyl radical generation). The studies reviewed include those focused on a series of cardiovascular, metabolic and neurological diseases, where iron can be found at the sites of plaques and lesions, as well as studies showing the significance of iron to aging and longevity. The effective chelation of iron by natural or synthetic ligands is thus of major physiological (and potentially therapeutic) importance. As systems properties, we need to recognise that physiological observables have multiple molecular causes, and studying them in isolation leads to inconsistent patterns of apparent causality when it is the simultaneous combination of multiple factors that is responsible. This explains, for instance, the decidedly mixed effects of antioxidants that have been observed, etc...Comment: 159 pages, including 9 Figs and 2184 reference

Genetic Identification and Characterisation of Novel Genes Implicated in Cerebellar Ataxia

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Search for positron quasibound states in the doubly excited region of the helium atom

Recent calculations by Bromley have indicated that the He(2s21Se) state will bind a positron. The e+He(2s21Se) state has a binding energy of 0.447 eV with respect to the He(2s21Se) state. Binding of a positron to the He 2s2 state has been predicted to give rise to two resonances in positron scattering from ground-state helium: e+He(2s21Se) at 57.3716 eV and a 2Po shape resonance just above the He(2s21Se) threshold at 57.8485 eV. To investigate these predicted resonances, low-energy positron scattering experiments were performed to measure the total and positronium cross sections in the doubly excited region of helium in this energy region. No experimental evidence has been found for these resonances, but upper bounds on the resonance strength were determined for both predicted resonances

Impact of Long-Haul Travel to International Competition on Sleep and Recovery in Elite Male and Female Soccer Athletes

Purpose: To investigate the impact of eastward travel across 7 time zones on sleep, jet lag, and recovery in elite soccer athletes. Methods: Twenty-one male and 20 female athletes (21.5 [1.7] y) traveled from Ireland to Taiwan to represent their national team at the World University Games 2017. Daily monitoring via actigraphy and subjective sleep and well-being measures were obtained for 1 week in Ireland (baseline), and for the duration of an international soccer tournament (days 1 5 [precompetition] and days 6 18 [competition]). Results: Sleep duration (P = .028) and time in bed (P = .006) were significantly lower at precompetition compared with baseline. Sleep quality (P .001) was significantly decreased in precompetition compared with baseline and competition. Subjective jet lag symptoms continued for up to 13 days posttravel. Athletes reported significantly greater fatigue during precompetition compared with competition (P = .005); however, there were no significant differences for recovery (P = .35) and readiness to train (P = .35). Sleep hygiene changed significantly during precompetition and competition compared with baseline in relation to reduced electronic device use (P = .005) and reduced caffeine intake (P .001). Females reported significantly greater presleep tension anxiety compared with males at all timepoints (P = .02). Conclusion: Long-haul eastward travel across 7 time zones has a significant impact on sleep duration and quality, likely related to changes in sleep patterns and jet lag. Athletes report changes in sleep hygiene posttravel; however, sleep remained negatively impacted for up to 5 days. Despite significant sleep disturbance and jet lag symptoms, young healthy athletes appear to recover well from long-haul travel; however, it is unknown if this interferes with training and competition performance.</p

Low-energy elastic and inelastic scattering of positrons from argon

Absolute measurements of elastic differential cross sections for positron scattering from argon at energies from 2–50 eV are presented as well as total elastic and total inelastic cross sections from 2–20 eV. Comparisons of the current data, previous experimental data, and theoretical models using the convergent close-coupling and relativistic optical potential methods are made