LONG-LASTING CRANIAL NERVE III PALSY AS A PRESENTING FEATURE OF CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

We describe a patient with chronic inflammatory demyelinating polyneuropathy (CIDP) in which an adduction deficit and ptosis in the left eye presented several years before the polyneuropathy. A 52-year-old man presented with a 14-year history of unremitting diplopia, adduction deficit, and ptosis in the left eye. At the age of 45 a mild bilateral foot drop and impaired sensation in the four limbs appeared, with these symptoms showing a progressive course. The diagnostic workup included EMG/ENG which demonstrated reduced conduction velocity with bilateral and symmetrical sensory and motor involvement. Cerebrospinal fluid studies revealed a cytoalbuminologic dissociation.Aprolonged treatment with corticosteroids allowed a significant improvement of the limbweakness. Diplopia and ptosis remained unchanged.This unusual formof CIDP presented as a long-lasting isolated cranial nerve palsy. A diagnostic workup for CIDP should therefore be performed in those patients in which an isolated and unremitting cranial nerve palsy cannot be explained by common causes

A Deletion of the Nuclear Localization Signal Domain in the Fus Protein Induces Stable Post-stress Cytoplasmic Inclusions in SH-SY5Y Cells

Mutations in Fused-in-Sarcoma (FUS) gene involving the nuclear localization signal (NLS) domain lead to juvenile-onset Amyotrophic Lateral Sclerosis (ALS). The mutant protein mislocalizes to the cytoplasm, incorporating it into Stress Granules (SG). Whether SGs are the first step to the formation of stable FUS-containing aggregates is still unclear. In this work, we used acute and chronic stress paradigms to study the SG dynamics in a human SH-SY5Y neuroblastoma cell line carrying a deletion of the NLS domain of the FUS protein (homozygous: ΔNLS–/–; heterozygous: ΔNLS+/–). Wild-type (WT) cells served as controls. We evaluated the subcellular localization of the mutant protein through immunoblot and immunofluorescence, in basal conditions and after acute stress and chronic stress with sodium arsenite (NaAsO2). Cells were monitored for up to 24 h after rescue. FUS was expressed in both nucleus and cytoplasm in the ΔNLS+/– cells, whereas it was primarily cytoplasmic in the ΔNLS–/–. Acute NaAsO2 exposure induced SGs: at rescue,>90% of ΔNLS cells showed abundant FUS-containing if compared to less than 5% of the WT cells. The proportion of FUS-positive SGs remained 15–20% at 24 h in mutant cells. Cycloheximide did not abolish the long-lasting SGs in mutant cells. Chronic exposure to NaAsO2 did not induce significant SGs formation. A wealth of research has demonstrated that ALS-associated FUS mutations at the C-terminus facilitate the incorporation of the mutant protein into SGs. We have shown here that mutant FUS-containing SGs tend to fail to dissolve after stress, facilitating a liquid-to-solid phase transition. The FUS-containing inclusions seen in the dying motor neurons might therefore directly derive from SGs. This might represent an attractive target for future innovative therapies

TRACHEOSTOMY MECHANICAL VENTILATION IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL FEATURES AND SURVIVAL ANALYSIS.

Background: Tracheostomy mechanical ventilation (TMV) is performed in amyotrophic lateral sclerosis (ALS) patients with a respiratory failure or when the non-invasive ventilation (NIV) is no longer effective. We evaluated the clinical characteristics and survival of a cohort of tracheostomized ALS patients, followed in a single ALS Clinical Center. Methods: Between 2001 and 2010, 87 out of 279 ALS patients were submitted to TMV. Onset was spinal in 62 and bulbar in 25. After tracheostomy, most patients were followed up through telephone interviews to caregivers. A complete survival analysis could be performed in fifty-two TMV patients. Results: 31.3% ALS patients underwent tracheostomy, with a male prevalence (M/F=1.69) and a median age of 61 years (interquartile range=47–66). After tracheostomy, nearly all patients were under home care. TMV ALS patients were more likely than non-tracheostomized (NT) patients to be implanted with a PEG device, although the bulbar-/spinal-onset ratio did not differ between the two groups. Kaplan–Meyer analysis showed that tracheostomy increases median survival (TMV, 47 months vs NT, 31 months, p=0.008), with the greatest effect in patients younger than 60 at onset (TMV≤60 years, 57.5 months vs NT≤60 years, 38.5 months, p=0.002). Conclusions: TMV is increasingly performed in ALS patients. Nearly all TMV patients live at home and most of them are fed through a PEG device. Survival after tracheostomy is generally increased, with the stronger effect in patients younger than 60. This survival advantage is apparently lost when TMV is performed in patients older than 60. The results of this study might be useful for the decision-making process of patients and their families about this advanced palliative care

Functional assessment of cancer therapy questionnaire for breast cancer (FACT-B+4): Italian version validation

BACKGROUND: Improvements in breast cancer diagnosis and treatment led to an increased incidence of survivors' rate. The healthcare system has to face new problems related not only to the treatment of the disease, but also to the management of the quality of life after the diagnosis. The aim of this study was to validate the Italian version of the Functional Assessment of Cancer Therapy - Breast (FACT-B+4) questionnaire and to evaluate its reliability. METHODS: The questionnaire was administered twice, with an interval of three days between each administration, to a cohort of women of the Breast Surgical Unit, PoliclincoUmberto I. Cronbach's alpha was used as a measure of the internal consistency of the Italian version. RESULTS: The Italian version of the tool was administered to 55 subjects. The Cronbach's alpha for most scores registered values >0.7, both at baseline and at the follow-up analysis, therefore the subscale showed good internal consistency. CONCLUSIONS: The Italian version of FACT-B+4 demonstrated acceptable reliability properties in the Breast Unit patients. The use of this questionnaire seemed to be effective and in line with the results derived from the English and Spanishversions. Internal consistency and validity had similar performance results

Food-Borne Viruses in Shellfish: Investigation on Norovirus and HAV Presence in Apulia (SE Italy)

Shellfish are an important vehicle for transmission of food-borne pathogens including norovirus (NoV) and hepatitis A virus (HAV). The risks related with consumption of shellfish are greater if these products are eaten raw or slightly cooked. As molluscs are filter-feeding organisms, they are able to concentrate pathogens dispersed in the water. Data on shellfish viral contamination are therefore useful to obtain a background information on the presence of contamination in the environment, chiefly in shellfish production areas and to generate a picture of the epidemiology of viral pathogens in local populations. From January 2013 to July 2015, 253 samples of bivalve molluscs collected in harvesting areas from a large coastal tract (860 km) of Southern Italy were screened for HAV and NoV of genogroups GI and GII, using real-time reverse transcription qualitative PCR. The RNA of HAV was not detected in any of the analyzed samples. In contrast, the RNA of NoV was identified in 14.2% of the samples with a higher prevalence of NoVs of genogroup GII (12.2%) than genogroup GI (1.6%). Upon sequence analysis of a short diagnostic region located in capsid region, the NoV strains were characterized as GII.2, GII.4 Sydney 2012, GII.6, GII.13, GI.4, and GI.6, all which were circulating in local populations in the same time span. These data confirm that consumption of mussels can expose consumers to relevant risks of infection. Also, matching between the NoV genotypes circulating in local population and detected in molluscs confirms the diffusion in the environment of NoVs

Complete locked-in and locked-in patients: Command following assessment and communication with vibro-tactile P300 and motor imagery brain-computer interface tools

Many patients with locked-in syndrome (LIS) or complete locked-in syndrome (CLIS) also need brain-computer interface (BCI) platforms that do not rely on visual stimuli and are easy to use. We investigate command following and communication functions of mindBEAGLE with 9 LIS, 3 CLIS patients and three healthy controls. This tests were done with vibro-tactile stimulation with 2 or 3 stimulators (VT2 and VT3 mode) and with motor imagery (MI) paradigms. In VT2 the stimulators are fixed on the left and right wrist and the participant has the task to count the stimuli on the target hand in order to elicit a P300 response. In VT3 mode an additional stimulator is placed as a distractor on the shoulder and the participant is counting stimuli either on the right or left hand. In motor imagery mode the participant is instructed to imagine left or right hand movement. VT3 and MI also allow the participant to answer yes and no questions. Healthy controls achieved a mean assessment accuracy of 100% in VT2, 93% in VT3, and 73% in MI modes. They were able to communicate with VT3 (86.7%) and MI (83.3%) after 2 training runs. The patients achieved a mean accuracy of 76.6% in VT2, 63.1% in VT3, and 58.2% in MI modes after 1-2 training runs. 9 out of 12 LIS patients could communicate by using the vibro-tactile P300 paradigms (answered on average 8 out of 10 questions correctly) and 3 out of 12 could communicate with the motor imagery paradigm(answered correctly 4,7 out of 5 questions). 2 out of the 3 CLIS patients could use the system to communicate with VT3 (90 and 70% accuracy). The results show that paradigms based on non-visual evoked potentials and motor imagery can be effective for these users. It is also the first study that showed EEG-based BCI communication with CLIS patients and was able to bring 9 out of 12 patients to communicate with higher accuracies than reported before. More importantly this was achieved within less than 15-20 min

Diseño y Territorio Social II: Identidad y Paisaje Cultural

El presente Proyecto es continuación de Diseño y Territorio Social I: Pasajeros en Tránsito, donde se retoman y profundizan algunas de las temáticas y abordajes iniciados oportunamente en el Volumen 1 (Cuaderno 134) This project is a continuation of Design and Social Territory I: Passengers in Transit, where some of the themes and approaches initiated in Volume 1 (Journal 134) Este projeto é uma continuação do Design e Território Social I: Passageiros em Trânsito, onde alguns dos temas e abordagens iniciados no Volume 1 (Caderno 134)&nbsp

Bee diversity in fragmented areas of Volcano Etna (Sicily, Italy) at different degrees of anthropic disturbance (Hymenoptera: Apoidea, Anthophila)

The present three-year study traces the diversity of four bee communities in fragmented pedemontane areas of Volcano Etna (Catania province, Sicily) near the Metropolitan City of Catania, under different land management regimes. The selected areas comprise two different urban parks within Catania (Parco Gioeni and Parco degli Ulivi), a Nature Reserve (Complesso Immacolatelle e Micio Conti, San Gregorio di Catania), and an agroecosystem (a citrus orchard, Aci Catena). Previous data obtained from a well-investigated area (Leucatia, north of Catania) have been used as a control for bee diversity for this study. The results include an outline of bee species richness, data on the composition of bee communities, and seasonal patterns, using several diversity indexes. The study of bee diversity shows a total of 163 species, arranged in five families. The four investigated locations include 104 species arranged in four families: Andrenidae (20 species), Halictidae (15 species), Megachilidae (31 species), and Apidae (38 species); with a similar number of species (102) recorded in the control site (Leucatia). The study highlights strong seasonal variations of bee communities in all investigated sites, with differentiated seasonal patterns, whose compositions are affected mainly by forage sources, suitable nesting sites, as well as human activities. The data obtained provide a rough but basilar framework to assess management strategies to maintain adequate levels of bee diversity, especially for those areas with moderate to high environmental fragmentation. Our findings highlight the importance of season-long sampling of bee population factors if used as indicators in ecological studies