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BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Approximately 5%-10% of cases are familial (FALS) and the remaining are sporadic (SALS). To date FUS mutations are responsible for 4%-6% of familial cases as well as 0.7%-1.8% of sporadic cases. METHODS: The frequency of FUS mutations was investigated in an Italian cohort of 500 SALS and 40 FALS patients through direct sequencing of exons 5, 6, 13, 14 and 15. RESULTS: Eight FUS mutation carriers were identified in five SALS (1%) and three FALS (7.5%), five already known and three new mutations: a de novo mutation was identified in a sporadic subject as well as the co-presence of FUS/C9ORF72 mutations in a FALS subject. The molecular and clinical details of the three patients harbouring a novel mutation (G245V, G509D and R491C) are presented here. Moreover the co-presence of the R491C mutation and C9ORF72 pathological expansion was found according to the oligogenic disease model. CONCLUSIONS: In conclusion our results revealed a higher frequency of FUS mutation carriers (7.5%) in FALS compared to literature data together with a higher presence of female gender.

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BACKGROUND AND PURPOSE: The occurrence of amyotrophic lateral sclerosis (ALS) during pregnancy is uncommon and the effect of one on the other is not well described. METHODS: The clinical and genetic features of five cases of ALS are reported with an onset during pregnancy or within 1 month from delivery. Charts from 239 women with a diagnosis of ALS attending the neuromuscular clinics at the Neuromuscular Omnicentre (NEMO) and at IRCCS Policlinico San Donato from 2008 to 2011 were reviewed. RESULTS: Of these, 12.8% of the women in child-bearing age had a diagnosis of ALS during pregnancy or immediately after delivery. Genetic screening of the major causative genes revealed two mutations in superoxide dismutase 1 (SOD1) gene; the analysis of vascular endothelial growth factor (VEGF) promoter variation showed a segregation of the haplotype CA/AG (-2578C/A; -1190A/G) in patients developing ALS related to pregnancy. No effects on foetal development or neonatal course were observed. CONCLUSIONS: Pregnancy may unmask ALS but whether this is coincidental is unclear. Hormonal and inflammatory modifications might trigger ALS in subjects with increased susceptibility to oxidative stress related to the toxic function of SOD1 or in subjects with a reduction of neuroprotective molecules such as VEGF.

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Low back pain represents one of the most frequent health problems in several working populations and is an important problem for occupation health doctors. In fact, these professionals are often required to face with the specific management of this condition, also by participating with other professionals into the implementation of organizational and structural measures. This contribute describes a variety of interventions aimed at treating the syndrome and recovering the working ability of the patient-worker, including the initial clinical evaluation, the assessment of the casual relationship between work and the syndrome, the treatment, the formulation of proposals to modify the worker's physical and working activity, the ongoing heath surveillance and a more in-depth clinical and instrumental evaluation, including surgical treatment.

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An estimated 2%-4% of the working population could be affected by sleep disordered breathing, in particular by obstructive sleep apnea syndrome. The main symptom is excessive daytime sleepiness, caused by sleep interruptions induced by respiratory events. The level of sleepiness varies according to the severity and duration of the disease: from a slight decrease in vigilance to an almost total inability to keep alert for more than a few hours. In addition, there is an increase in cardiovascular risks and dysmetabolic disorders, which has a variable incidence in the affected population. Even less severe clinical conditions can lead to a reduction in the power of concentration, attention and working performance. The recent trend of research aims at verifying the association between risk factors and obstructive sleep apnea syndrome in order to identify those subjects at real risk, to determine the actual level of sleep-disordered breathing which should be treated and whether the less serious disturbances, so frequent in the general population, represent a real threat to health.

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Implementation of a Quality System in accordance with the ISO 9000 standard with an Occupational Health Service. Following the lead of the industrial sector, Quality Systems (QS), in accordance with the principles of the ISO 9000 standards, have been implemented in many health care organizations. The purpose is to improve the health care delivered to the patient in a systematic way improving the system efficacy and effectiveness. Our aim is to describe a practical approach for the implementation of a QS in accordance with the ISO 9000 standard within an Occupational Health Service (OHS) in a middle-sized hospital. The purpose of the system is to ensure that everyone at the OHS is aware of the common quality objectives and knows how to act in order to achieve them. The implementation of the QS has entailed 2 phases: (i) a conformity assessment to verify that the organization and services delivered measure up to ISO standards; (ii) the development of a deployment plan to support the activities and action implementation for achieving the QS requirement of ISO 9000. An early conformity assessment highlighted the need for management and control in order to assure quality. The Service did not have a documented QS, a documented management review and a documented procedure for corrective and preventive actions for ensuring QS implementation and its effectiveness. A strategic quality plan, focused upon the major areas for improvement, was developed. This practical approach shows encouraging results because it allows to build up the basic quality and to motivate the OHS personnel.

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We report here a women who developed chronic myelogenous leukemia (CML) after successful radiotherapy and chemotherapy for non-Hodgkin lymphoma. Review of the literature indicates that exposure to ionizing radiation is associated with an increased risk of CML.

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