A Case Report of a Woman Affected with Rapid Cycling Bipolar Disorder I and Methabolic Syndrome Improved with Aripiprazole Monotherapy

Introduction We present the case of a 51-years-old Caucasian woman with Bipolar Disorder I (BDI), treated for a long time with typical antipsychotics and mood stabilizers. She referred to our outpatient service because she wished to revise her precriptions, which had caused several side-effects, including metabolic syndrome, gain of body weight, sedation, cognitive impairments, and extrapiramidal symptoms. Moreover, treatment was poorly effective, the patient's compliance was lacking and she experienced frequent relapses. Aims We started treating the patient with aripiprazole at a daily dose of 15 mg. Our aim is to describe the substantial clinical and metabolic improvements of a patient who poorly responded to previous prescriptions. Methods Psychometric measures for the assessment of mood and social functioning were administered at baseline and at the follow-up interviews. Body Mass Index was monitored and blood tests were performed to evaluate the lipid profile (LDL, HDL, total cholesterol, triglycerides), blood glucose, and glycated haemoglobin. Results In the last two years the patient has regularly taken her therapies and attended to follow-up visits. Her social functioning and tolerance to stressful situations have improved, as well as her metabolic profile. Noteworthy, she had not needed further hospitalizations. Conclusions Our clinical observations support the efficacy of aripiprazole in the treatment of BDI. Switching to aripiprazole should be considered in cases similar to the one we have described, characterized by poor compliance, obesity or metabolic syndrome, sensitivity to manifest extrapiramidal syndrome (especially tardive dyskinesia) and other side effects such as sedation and cognitive impairments

White Paper: promoting Design for All and e-Accessibility in Europe.

This White Paper results from the collaboration of Design for All (DfA) and e-Accessibility expert bodies representing the European Union member states [ref: the coordination centres of the national European Design for All e-Accessibility network (EDeAN) in 23 European Union Member States, in this document referred to as NCCs]. The objectives of this White Paper are threefold: (1) to present the current state of affairs of EDeAN, active since 2002 as part of the European Commission’s action line supporting the development of the European Information Society; (2) to outline a roadmap for future initiatives, actively reflecting views of the EDeAN network in specific domains related to DfA, e-Accessibility and e-Inclusion; and (3) to bring forward a set of suggestions and recommendations regarding the activities of the network, aiming to support the creation of a fully inclusive European Information Society. The paper is organised as follows: Section 1 provides a short introduction to DfA and Accessibility in Information Society (IS) and Information Society Technology (IST) developments in Europe. Section 2 provides an overview of policy as well as R&D activities related to DfA and accessibility in IST in Europe. Section 3 briefly describes the role of EDeAN and the new challenges that emerge as a result of the changing European policy environment. Section 4 presents current challenges that emerge in five domains directly related to DfA and accessibility, such as policy and legislation, industry, monitoring and evaluation—benchmarking, standardisation, R&D, and education and training. Finally, Sect. 5 puts forward a number of recommendations with regard to future activities for EDeAN. The contents of this paper reflect results from the open discussion forums supported in the EDeAN website (ref: EDeAN Special Interest Groups, SIGs). The draft paper was written by the EDeAN Secretariat for 2005, FORTH-ICS (Greece), and completed with the support of all NCCs. Support was also provided by the European Commission DG Information Society and Media and by the D4ALLnet project (ref: an EC funded project with the code IST-2001-38833)

Online Communities for All: The Role of Design for All in the Formation and Support of Inclusive Online Communities

An online community is a virtual community composed of individuals who form and maintain online communication, share common goals, interests and needs that provide the reason of community existence, and use common interactive tools that support their networking and communication activities. The term “networking” is traditionally used to describe the formation and maintenance of connections and relationships between individuals, organizations or other interested parties. Virtual or online networking is a form of interpersonal communication that is characterized by the use of electronic means of communication between the different parties and the exchange of messages and information in electronic forms [11]. Hence, virtual or online communities perform virtual networking. This paper aims to examine how the principles of Design for All can support the formation and operation of online communities that are fully inclusive, multi-cultural and multiplatform, thus providing an infrastructure essentially accessible to all their members to carry out virtual networking activities. Following an introduction to online communities and community formation, the paper briefly builds the case for Design for All and the challenges for new information and communication technologies towards a fully inclusive Information Society. Then, based on practical experience and case studies, the paper examines the benefits and challenges of applying the principles of Design for All in the design, development and support of virtual interaction spaces, in order to cater for the diversity of users-community members, as well as of their environments of use. The paper concludes by proposing a set of design issues to be taken into account in the development of online communities for all

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Introduction: Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation: We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of Sicily. The first patient is a male child, born from the first pregnancy of healthy consanguineous Sicilian parents. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, inherited from both heterozygous parents, was identified by next generation sequencing (NGS) in the homozygous child (and later, also in the heterozygous maternal aunt). A more detailed family history disclosed a possible related twenty-year-old girl, belonging to the same Sicilian small town, with referred neonatal salt loss syndrome associated to hyperkalemia, and subsequent normal growth and neurodevelopment. This second patient had a PHA1 clinical diagnosis when she was about 1 year old. The genetic investigation was, then, extended to her and to her family, revealing the same mutation in the homozygous girl and in the heterozygous parents. Conclusions: The neonatologist should consider PHA1 diagnosis in newborns showing hyponatremia, hyperkalemia and metabolic acidosis, after the exclusion of a salting-loss form of adrenogenital syndrome. The increased plasmatic levels of aldosterone and aldosterone/renin ratio, associated to a poor response to steroid administration, confirmed the diagnosis in the first present patient. An accurate family history may be decisive to identify the clinical picture. A multidisciplinary approach and close follow-up evaluations are requested, in view of optimal management, adequate growth and development of patients. Next generation sequencing (NGS) techniques allowed the identification of the SCNN1A gene mutation either in both patients or in other heterozygous family members, enabling also primary prevention of disease. Our report may broaden the knowledge of the genetic and molecular bases of PHA1, improving its clinical characterization and providing useful indications for the treatment of patients. Clinical approach must be personalized, also in relation to long-term survival and potential multiorgan complications

Active Trigger Points Are Associated With Anxiety and Widespread Pressure Pain Sensitivity in Women, but not Men, With Tension Type Headache

BACKGROUND: A better understanding of gender differences can assist clinicians in further developing therapeutic programs in tension type headache (TTH). OBJECTIVE: To evaluate gender differences in the presence of trigger points (TrPs) in the head, neck, and shoulder muscles and their relationship with headache features, pressure pain sensitivity, and anxiety in people with TTH. METHODS: Two hundred and ten (59 men, 151 women) patients with TTH participated. TrPs were bilaterally explored in the temporalis, masseter, suboccipital, upper trapezius, splenius capitis, and sternocleidomastoid muscles. Headache features were collected using a 4-week headache diary. Trait and state anxiety levels were assessed using the State-Trait Anxiety Inventory. Pressure pain thresholds (PPTs) over the temporalis, C5/C6 joint, second metacarpal, and tibialis anterior were assessed. RESULTS: Women with TTH exhibited a significantly higher number of total (P = 0.027) and active (P = 0.030), but similar number of latent (P = 0.461), TrPs than men with TTH. Active TrPs in the temporalis, suboccipital, and splenius capitis muscles were the most prevalent in both men and women with TTH. The number of active TrPs was associated with anxiety levels (r = 0.217; P = 0.045) in women, but not in men (P = 0.453): the higher the number of active TrPs, the more the trait levels of anxiety. Women exhibited lower PPTs than men (all, P < 0.001). In men, the number of active, but not latent, TrPs was negatively associated with localized PPTs (all, P < 0.05), whereas in women, the number of active and latent TrPs was negatively associated with PPTs in all points (all, P < 0.01): the higher the number of TrPs, the lower the widespread PPTs. CONCLUSIONS: This study described gender differences in the presence of TrPs in TTH. Women with TTH showed lower PPTs than men. The association between TrPs, anxiety levels, and pressure pain hyperalgesia seems to be more pronounced in women than in men with TTH

Invasive group B streptococcal infections in adults, France (2007–2010)

AbstractGroup B streptococcus (GBS) has emerged as an important cause of invasive infection in adults. Here, we report the clinical and microbiological characteristics of 401 non-redundant GBS strains causing adult invasive infections collected during a 4-year period (2007–2010). Bacteraemia without focus (43.4%) and bone and joint infections (18.7%) were the main clinical manifestations. The distribution of capsular polysaccharide (CPS) type showed that types Ia, III, and V accounted for 71.8% of all strains. Resistance to erythromycin increased from 20.2% in 2007 to 35.3% in 2010, and was mainly associated with CPS type V harbouring the erm(B) resistant determinant

UPO Biobank: The Challenge of Integrating Biobanking into the Academic Environment to Support Translational Research

Biobanks are driving motors of precision and personalized medicine by providing high-quality biological material/data through the standardization and harmonization of their collection, preservation, and distribution. UPO Biobank was established in 2020 as an institutional, disease, and population biobank within the University of Piemonte Orientale (UPO) for the promotion and support of high-quality, multidisciplinary studies. UPO Biobank collaborates with UPO researchers, sustaining academic translational research, and supports the Novara Cohort Study, a longitudinal cohort study involving the population in the Novara area that will collect data and biological specimens that will be available for epidemiological, public health, and biological studies on aging. UPO Biobank has been developed by implementing the quality standards for the field and the ethical and legal issues and normative about privacy protection, data collection, and sharing. As a member of the "Biobanking and Biomolecular Resources Research Infrastructure" (BBMRI) network, UPO Biobank aims to expand its activity worldwide and launch cooperation with new national and international partners and researchers. The objective of this manuscript is to report an institutional and operational experience through the description of the technical and procedural solutions and ethical and scientific implications associated with the establishment of this university research biobank