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Elevated levels of Gamma-hydroxybutyric aciduria were found in their patients on urine organic acid analysis.Conclusion Our findings contribute to the current knowledge of missense and deletion mutations associated with SSADH deficiency.Background Stroke can bring about a profound disruption to people's lives, but what is less understood is the effect that specific dysfunctions can have. The aim of this study was to explore stroke survivors' experiences of upper-limb dysfunction over time.Methods 13 adult stroke survivors engaged in a series of up to four semi-structured interviews over an 18-month period after stroke. Data were interpreted through a method based on framework analysis. An interpretive phenomenological approach guided the research.Results Upper-limb dysfunction brought substantial challenges for people, identified in a main theme of an altered way of life. Subordinate themes that contributed to this alteration were challenges in personal care, participating in meaningful and valued activities, and managing life roles and relationships. The second main theme was the disrupted self, with subordinate themes of feeling devalued, disrupted self-image and changes in identity.Conclusion The impact of upper-limb dysfunction on people self.Purpose To describe the positive and negative impacts of spasticity across different neurological disorders using the Patient Reported Impact of Spasticity Measure (PRISM), deduce any associations between severity of spasticity and its impact, and assess for differences across diagnostic subgroups.Materials and methods PRISM, a spasticity-specific quality of life questionnaire validated in patients with spinal cord injuries, was given to 97 follow-up patients attending a spasticity clinic prior to symptom assessment using the REsistance to PAssive movement Scale (REPAS).Results Patients described a minor level of positive impact and a marked negative impact in the domains of "Psychological Agitation," "Daily Activities," "Need for Assistance/Positioning" and "Social Avoidance/Anxiety." Spasticity severity was, in general, a poor predictor of perceived impact, although severity and localisation of spasticity was modestly correlated with "Need for Assistance/Positioning" and "Social Embarrassment" levels. Despite comparable levels of spasticity severity, people with MS expressed a more substantial impact across some PRISM domains than did patients in other groups.Conclusion PRISM can be useful to assess the impact of spasticity in various neurological conditions although further validation studies are needed.Implications for RehabilitationThe localisation of spasticity in both legs or the right arm can produce a significant impact on 'Need for Assistance/Positioning' and 'Social Embarrassment'.People with MS may experience a greater impact of spasticity than those with other neurological conditions, particularly in the domains of Social Avoidance/Anxiety and Psychological Agitation.Coexisting factors such as anxiety, depression, fatigue and pain should be investigated together with spasticity.PRISM can assist in goal setting and treatment of people with spasticity secondary to different neurological conditions.Introduction Major depressive disorder (MDD) is the leading cause of years lost to disability worldwide. Pharmacotherapy and psychotherapy are effective treatments in most depressive episodes; but, about 30% of MDD patients remain symptomatic, and relapse is a common event. Recently, deep brain stimulation (DBS) has emerged as a valid therapeutic option in treatment-resistant depression (TRD) patients.Areas covered In this paper, the authors summarize the findings of studies focused on these pathophysiologic phenomena and specifically on the role of DBS as a therapeutic option in TRD patients. The authors simply reviewed RCTs, open-label studies, neurophysiological mechanisms of DBS in MDD, and the possible role of different targets. Finally, we suggest possible future options.Expert opinion Depression is a systems-level disorder, involving several brain structures. find more Neuroimaging studies demonstrate multiple interconnected regions that modulate different neural networks. DBS can modulate different targets, and others are under investigation. Among these subcallosal cingulate gyrus (SCG), ventral capsule and ventral striatum (VC/VS) seems to be the most relevant targets. We believe that, in the next future, DBS for TRD might become a first-line of treatment, especially using directional leads, that may help us to improve therapeutic effects.Purpose To explore the experiences of adults with persistent postconcussion symptoms and clinicians to inform the development of a concussion-specific questionnaire.Methods Using a qualitative descriptive design, we conducted 10 focus groups with persons with persistent post-concussion symptoms (n = 35; female 66%; age range 19.0-65.1 years) and semi-structured interviews with clinicians with concussion expertise (n = 16; female 81%). Thematic analysis was used to identify themes within their narratives. The International Classification of Functioning, Disability and Health (ICF) provided a standardized language for coding.Results Three overarching themes emerged from the data Functioning, Environmental and Personal Factors, and Capacity. Functioning mapped closely onto Activities and Participation within the ICF. Contextual factors, both Environmental and Personal, had a significant influence on functioning following concussion. Capacity was a unique finding that described how long a person is able to engage concussion-specific measure of functioning exists.Introduction Asbestos, the most frequent cause of occupational cancer, continues to be consumed on a massive scale, with millions of people exposed on a daily basis. This review explains why we have failed in curtailing the silent epidemic of asbestos-related disease and why the numbers of asbestos victims are likely to remain high. Emerging and developed countries have to be reminded that asbestos exposure has yet to become a problem of the past. The worldwide spread of asbestos, followed by the surge of asbestos-related cancers, resembles the lung cancer epidemic caused by smoking and stimulated by manufacturers.Areas covered Underreporting of malignant mesothelioma and asbestos-induced lung cancer, frequently-used arguments in the amphibole/chrysotile debate and the conclusion from bona-fide research organizations, that all forms of asbestos are carcinogenic, are reviewed. Special attention is paid to the consequences of ubiquitous environmental asbestos and the 'changing face' of malignant mesothelioma in countries with heavy asbestos use in the past.