Microarray gene expression profiling of neural tissues in bovine spastic paresis

Abstract: Background: Bovine Spastic Paresis (BSP) is a neuromuscular disorder which affects both male and female cattle. BSP is characterized by spastic contraction and overextension of the gastrocnemious muscle of one or both limbs and is associated with a scarce increase in body weight. This disease seems to be caused by an autosomal and recessive gene, with incomplete penetration, although no genes clearly involved with its onset have been so far identified. We employed cDNA microarrays to identify metabolic pathways affected by BSP in Romagnola cattle breed. Investigation of those pathways at the genome level can help to understand this disease. Results: Microarray analysis of control and affected individuals resulted in 268 differentially expressed genes. These genes were subjected to KEGG pathway functional clustering analysis, revealing that they are predominantly involved in Cell Communication, Signalling Molecules and Interaction and Signal Transduction, Diseases and Nervous System classes. Significantly enriched KEGG pathway's classes for the differentially expressed genes were calculated; interestingly, all those significantly under-expressed in the affected samples are included in Neurodegenerative Diseases. To identify genome locations possibly harbouring gene(s) involved in the disease, the chromosome distribution of the differentially expressed genes was also investigated. Conclusions: The cDNA microarray we used in this study contains a brain library and, even if carrying an incomplete transcriptome representation, it has proven to be a valuable tool allowing us to add useful and new information to a poorly studied disease. By using this tool, we examined nearly 15000 transcripts and analysed gene pathways affected by the disease. Particularly, our data suggest also a defective glycinergic synaptic transmission in the development of the disease and an alteration of calcium signalling proteins. We provide data to acquire knowledge of a genetic disease for which literature still presents poor results and that could be further and specifically analysed in the next future. Moreover this study, performed in livestock, may also harbour molecular information useful for understanding human diseases

Bell's palsy: Symptoms preceding and accompanying the facial paresis

This individual prospective cohort study aims to report and analyze the symptoms preceding and accompanying the facial paresis in Bell's palsy (BP). Two hundred sixty-nine patients affected by BP with a maximum delay of 48 hours from the onset were enrolled in the study. The evolution of the facial paresis expressed as House-Brackmann grade in the first 10 days and its correlation with symptoms were analyzed. At the onset, 136 patients presented postauricular pain, 114 were affected by dry eye, and 94 reported dysgeusia. Dry mouth was present in 54 patients (19.7%), facial pain, hyperlacrimation, aural fullness, and hyperacusis represented a smaller percentage of the reported symptoms. After 10 days, 39.9% of the group had a severe paresis while 10.2% reached a complete recovery. Dry mouth at the onset was correlated with severe grade of palsy and was prognostic for poor recovery in the early period. These outcomes lead to the deduction that the nervus intermedius plays an important role in the presentation of the BP and it might be responsible for most of the accompanying symptomatology of the paresis. Our findings could be of important interest to early address a BP patient to further examinations and subsequent therapy

Storage Infrastructure at the INFN LHC Tier-1

In this paper we will describe the Storage Infrastructure of the INFN-CNAF Tier-1, used to store data of High Energy Physics experiments, in particular those operating at the Large Hadron Collider

The Importance of Cooperation and Relative's Involvement in Combined Treatment for Eating Disorders: a Case Report

Introduction: The importance of combined treatment of EDs is widely acknowledged. We describe the good outcome of a combined treatment in a 43 year old woman, affected by severe Anorexia Nervosa \u2013 Binge Purging (BMI 9.1), since early adolescence. She sought treatment only after giving birth to her second-born when she became aware of her illness. Despite intensive treatment (as an inpatient in hospitals and specialized rehabilitation centres, and in Day Hospital facilities), her condition gradually worsened, and her personal, social, working and family functioning was severely compromised (Global Assessment of Functioning Scale 35), Methods: A multidisciplinary team including psychiatrist, psychotherapist, family psychotherapist, nutritionist, dietician, nurses was involved in treatment, working together to a common treatment strategy. The Psychiatrists role (psicopharmacology, therapeutic process, helping acknowledging and avoiding manipulation) and the nurses role (establishing a therapeutic relationship with the patient, assisting her during meals and supporting the overall therapeutic process), are discussed. Results: A gradual psychopathologic and somatic improvement occurred across a 12-months period: she spent two months in a Psychiatry ward, four more months in a rehab centre and six months in an ED therapeutic community. She gained weight (BMI 21.4) and regained an excellent personal, social and family functioning. She returned to her husband (they previously separated), and the relationship with her daughters, who previously rejected her, improved (GAF 90). Conclusions: The cooperation of the multidisciplinary equipe and the involvement of the patient\u2019s relatives succeeded in reducing anxiety, depression, dysmorphophobia and interrupting the manipulating attitudes typical of the illness

Predictors of lymphocyte count recovery after dimethyl fumarate-induced lymphopenia in people with multiple sclerosis

Background: Dimethyl fumarate (DMF) is an oral drug approved for Relapsing Multiple Sclerosis (RMS) patients. Grade III lymphopenia is reported in 5–10% DMF-treated patients. Data on lymphocyte count (ALC) recovery after DMF withdrawal following prolonged lymphopenia are still scarce. Objectives: To characterize ALC recovery and to identify predictors of slower recovery after DMF interruption. Methods: Multicenter data from RMS patients who started DMF and developed lymphopenia during treatment were collected. In patients with grade II–III lymphopenia, ALCs were evaluated from DMF withdrawal until reaching lymphocyte counts > 800/mm3. Results: Among 1034 patients who started DMF, we found 198 (19.1%) patients with lymphopenia and 65 patients (6.3%) who discontinued DMF due to persistent grade II–III lymphopenia. Complete data were available for 51 patients. All patients recovered to ALC > 800 cells/mm3 with a median time of 3.4 months. Lower ALCs at DMF suspension (HR 0.98; p = 0.005), longer disease duration (HR 1.29; p = 0.014) and prior exposure to MS treatments (HR 0.03; p = 0.025) were found predictive of delayed ALC recovery. Conclusion: ALC recovery after DMF withdrawal is usually rapid, nevertheless it may require longer time in patients with lower ALC count at DMF interruption, longer disease duration and previous exposure to MS treatments, potentially leading to delayed initiation of a new therapy

A self-configuring control system for storage and computing departments at INFN-CNAF Tierl

The storage and farming departments at the INFN-CNAF Tier1[1] manage approximately thousands of computing nodes and several hundreds of servers that provides access to the disk and tape storage. In particular, the storage server machines should provide the following services: an efficient access to about 15 petabytes of disk space with different cluster of GPFS file system, the data transfers between LHC Tiers sites (Tier0, Tier1 and Tier2) via GridFTP cluster and Xrootd protocol and finally the writing and reading data operations on magnetic tape backend. One of the most important and essential point in order to get a reliable service is a control system that can warn if problems arise and which is able to perform automatic recovery operations in case of service interruptions or major failures. Moreover, during daily operations the configurations can change, i.e. if the GPFS cluster nodes roles can be modified and therefore the obsolete nodes must be removed from the control system production, and the new servers should be added to the ones that are already present. The manual management of all these changes is an operation that can be somewhat difficult in case of several changes, it can also take a long time and is easily subject to human error or misconfiguration. For these reasons we have developed a control system with the feature of self-configure itself if any change occurs. Currently, this system has been in production for about a year at the INFN-CNAF Tier1 with good results and hardly any major drawback. There are three major key points in this system. The first is a software configurator service (e.g. Quattor or Puppet) for the servers machines that we want to monitor with the control system; this service must ensure the presence of appropriate sensors and custom scripts on the nodes to check and should be able to install and update software packages on them. The second key element is a database containing information, according to a suitable format, on all the machines in production and able to provide for each of them the principal information such as the type of hardware, the network switch to which the machine is connected, if the machine is real (physical) or virtual, the possible hypervisor to which it belongs and so on. The last key point is a control system software (in our implementation we choose the Nagios software), capable of assessing the status of the servers and services, and that can attempt to restore the working state, restart or inhibit software services and send suitable alarm messages to the site administrators. The integration of these three elements was made by appropriate scripts and custom implementation that allow the self-configuration of the system according to a decisional logic and the whole combination of all the above-mentioned components will be deeply discussed in this paper

Feeling Through the Body: Alexithymia and Eating Disorders

INTRODUCTION Alexithymia is characterized by difficulties identifying and communicating feelings, and problems differentiating between feelings and bodily sensations; its concrete cognitive style focused on the external environment is typical of psychosomatic patients. Patients with eating disorders (EDs) have high levels of alexithymia, particularly difficulties identifying and describing their feelings. OBJECTIVE The aims of our study are (1) to assess the alexythimia, emotional empathy, facial emotion identification skills and social inference abilities in a sample of ED patients; (2) to compare these variables between ED patients and healthy controls (HC); and (3) to correlate levels of alexithymia with the severity of the ED as measured by the Eating Disorder Inventory-3 (EDI-3) EDRC score in the ED group. METHODS ED (N=42) and HC (N=42) were tested with the Toronto Alexithymia Scale (TAS-20), Eating Disorder Inventory (EDI-3), Facial Emotion Identification Test (FEIT), The Awareness of Social Inference Test (TASIT) and Interpersonal Reactivity Index (IRI). RESULTS Data collection is being completed and the results’ analysis is ongoing. We expect the ED sample to show greater alexythimia and a poorer performance at FEIT and TASIT than HCs. We expect to find a linear correlation between the TAS-20 and EDRC score. CONCLUSION A better understanding of the role of alexithymia in ED etiology and maintenance might allow the development of targeted treatment approaches to help patients improve their skills in identifying and expressing emotions

The Use of Social Media and Digital Devices Among Italian Neurologists

Background: Digital devices and online social networks are changing clinical practice. In this study, we explored attitudes, awareness, opinions, and experiences of neurologists toward social media and digital devices. Methods: Each member of the Italian Society of Neurology (SIN) participated in an online survey (January to May 2018) to collect information on their attitude toward digital health. Results: Four hundred and five neurologists participated in the study. At work, 95% of responders use the personal computer, 87% the smartphone, and 43.5% the tablet. These devices are used to obtain health information (91%), maintain contact with colleagues (71%), provide clinical information (59%), and receive updates (67%). Most participants (56%) use social media to communicate with patients, although 65% are against a friendship with them on social media. Most participants interact with patients on social media outside working hours (65.2%) and think that social media have improved (38.0%) or greatly improved (25.4%) the relationship with patients. Most responders (66.7%) have no wearable devices available in clinical practice. Conclusion: Italian neurologists have different practices and views regarding the doctor–patient relationship in social media. The availability of digital devices in daily practice is limited. The use of social networks and digital devices will increasingly permeate into everyday life, bringing a new dimension to health care. The danger is that advancement will not go hand in hand with a legal and cultural adaptation, thus creating ambiguity and risks for clinicians and patients. Neurologists will need to be able to face the opportunities and challenges of this new scenario

Mid-term Psychiatric Outcomes of Patients Recovered From COVID-19 From an Italian Cohort of Hospitalized Patients

Background: Although the usual primary clinical manifestation of Coronavirus disease (COVID-19) is respiratory, several non-respiratory symptoms have been described, including neuropsychiatric ones. The aim of this study was to investigate the mid-term mental health outcomes in patients recovered from COVID-19, 3\u20134 months after discharge from the University Hospital Maggiore della Carit\ue0, Novara, Italy. Furthermore, we investigated the possible association of the mid-term mental health consequences of the COVID-19 infection with patients' clinical current status, persistent physical impairment and severity of acute phase of the disease. Methods: Prospective study involving 238 individuals recovered from COVID-19. In the context of a multi-disciplinary approach, patients' assessment included both a clinical interview performed by an experienced psychiatrist, trained in the use of the Mini-International Neuropsychiatric Interview to assess the presence of anxiety and depressive symptoms and self-administered questionnaires: Beck Anxiety Inventory (BAI), Beck Depression Inventory-II (BDI-II), Resilience Scale for Adults (RSA), Impact of Event Scale (IES). Results: At the psychiatric assessment 32.9 and 29.5% of participants showed anxiety and depressive symptoms, respectively. Changes in appetite and sleep patterns emerged for 15.6 and 31.2% of patients. According to the self-administered questionnaires, 7.1% of participants had moderate-severe anxiety levels (BAI), while 10.5% had mild to severe depression (BDI-II). Twenty-six (11%) participants were referred to further psychiatric consultation. Psychiatric symptoms showed no correlation with acute COVID-19 severity; in our sample patients with depressive symptoms at the clinical interview, as well as those with mild to severe levels of depression according to BDI-II scores, had lower forced expiratory volume in the 1st second (FEV1) values than those without and greater odds for persistent, poor tolerance for physical efforts. Conclusions: As could be expected, an approach including both a psychiatric interview and the use of self-administered questionnaires is likely to capture the psychiatric outcome of patients recovered from COVID-19 better than questionnaires alone. Anxiety and depressive symptoms at follow-up had no correlation with the severity of COVID acute manifestations, but rather with ongoing and persistent physical symptoms. Further studies and longer follow-up duration will allow a better understanding of the complex relationship between residual physical symptoms, quality of life and psychological health