14 research outputs found

    Attention, problem solving and decision making in adult subjects with ADHD

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    Although attention-deficit/hyperactivity disorder (ADHD) is clearly associated with executive dysfunctions, the neuropsychological profile of adults with ADHD is unclear. The present study aimed at examining neuropsychological performance on tasks measuring attention, problem solving and decision making, comparing adults with ADHD (N= 12, mean age 18.33; SD= 11.48) and healthy adults (N= 12, mean age 18.41; SD= 18.70) matched for age and gender. Results showed that adults with ADHD exhibit deficits in attention, problem solving and decision making. These findings warrant further examination of neuropsychological profile in adults with ADHD to improve the understanding of underlying neurocognitive mechanisms

    The new paradigm of Network Medicine to analyse breast cancer phenotypes

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    Breast cancer (BC) is a heterogeneous and complex disease as witnessed by the existence of different subtypes and clinical characteristics that poses significant challenges in disease management. The complexity of this tumor may rely on the highly interconnected nature of the various biological processes as stated by the new paradigm of Network Medicine. We explored The Cancer Genome Atlas (TCGA)-BRCA data set, by applying the network-based algorithm named SWItch Miner, and mapping the findings on the human interactome to capture the molecular interconnections associated with the disease modules. To characterize BC phenotypes, we constructed protein–protein interaction modules based on “hub genes”, called switch genes, both common and specific to the four tumor subtypes. Transcriptomic profiles of patients were stratified according to both clinical (immunohistochemistry) and genetic (PAM50) classifications. 266 and 372 switch genes were identified from immunohistochemistry and PAM50 classifications, respectively. Moreover, the identified switch genes were functionally characterized to select an interconnected pathway of disease genes. By intersecting the common switch genes of the two classifications, we selected a unique signature of 28 disease genes that were BC subtype-independent and classification subtype-independent. Data were validated both in vitro (10 BC cell lines) and ex vivo (66 BC tissues) experiments. Results showed that four of these hub proteins (AURKA, CDC45, ESPL1, and RAD54L) were over-expressed in all tumor subtypes. Moreover, the inhibition of one of the identified switch genes (AURKA) similarly affected all BC subtypes. In conclusion, using a network-based approach, we identified a common BC disease module which might reflect its pathological signature, suggesting a new vision to face with the disease heterogeneity

    Safety and immunogenicity of the COVID-19 vaccine BNT162b2 for patients with breast and gynecological cancer on active anticancer therapy: Results of a prospective observational study

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    Background: Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are highly effective. Nevertheless, immunocompromised participants were excluded from randomized controlled clinical trials. This study evaluates the efficacy and safety of the Pfizer/BioNTech BNT162b2 (BNT162b2) vaccine in patients with breast and gynecological cancer treated with active anticancer therapy versus a control cohort of healthy participants. Methods: Immune responses to the BNT162b2 vaccine in patients with breast cancer (n = 44) or a gynecological malignancy (n = 6) on active anticancer therapy (28 on chemotherapy, mostly anthracycline- or taxane-based, and 22 on target therapy) and in a control cohort of participants without cancer (n = 67) were investigated by SARS-CoV-2 neutralizing antibody titers measured by S1-binding immunoglobulin G (IgG) concentrations assessed using the LIAISON XL tools (DiaSorin S.p.A.). Response was assessed after a second dose of the BNT162b2 vaccine administered before and at least 3 weeks after the vaccine dose. Results: Overall, 43/50 (86%) patients of the cancer cohort (74% in the breast cancer group and 100% in the gynecological malignancy group) developed IgG antibodies after the second dose of the BNT162b2 vaccine. There were no statistically significant differences in responder rates between patients treated with chemotherapy and those on target therapy. The majority of patients who received chemotherapy with or without target therapy, 21/28 (75%), developed a reliable antibody titer after a vaccine. All seven non-responder patients were undergoing an anthracycline-based regimen. Based on IgG levels (0-400 AU/ml), patients were classified as negative ('non-responders'), weakly positive, or strongly positive ('responders'). No delay in cancer therapy schedule or reported side effects were recorded after BNT162b2 vaccine administration. All healthy participants were strongly positive. Responder rates differed significantly between the two study cohorts (p < 0.001). Conclusions: Most patients develop antibody titers after the second immunization. However, given the persistence of non-responders or weak responders, additional immunization booster seems to be required, along with proactive planning in the vaccination schedule, with vaccine administration spaced out over time with respect to chemotherapy

    GAIRS Checklist For Rett Syndrome: A Complete and Practical Instrument of Assessment and Intervention

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    The purpose of the book is to present the GAIRS (Global Assessment and Intervention in Rett Syndrome) Checklist, an easy-to-use, short and accessible tool for every health-care professional in order to assess all the abilities of Rett girls but also to identify patients needing next-step evaluation and treatment. Thanks to the hierarchical order of all the targets assessed in each area of the GAIRS, this checklist can be a useful instrument not only for assessment but also for intervention

    Attention and identification of the same and the similar visual stimuli in Rett Syndrome

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    Rett Syndrome (RTT) is a developmental disorder, predominantly affecting girls, which causes Intellectual Disability and neuro-behavioral disability. Individuals with RTT present with apraxia and movement disorders and most of them are unable to speak, walk and use their hands. For these reasons, eye tracker technology is being increasingly used to their assess cognitive processes. The aim of this study was to investigate three cognitive processes in girls with RTT compared with typical developing girls (TD): the ability to attend to visual stimuli, the ability to identify the same stimuli and the ability to identify the similar stimuli. With the help of Eye Tracker technology, three tasks were administered (1. Attention; 2. Identification of the same stimuli; 3. Identification of the similar stimuli) to 21 girls with RTT, compared with TD girls. Results show that girls with RTT performed worse than girls with TD in all conditions

    Repeated motor training on attention reaching skills and stereotypies in Rett Syndrome

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    Few studies investigated the effect of a structured and specific training for upper limb motor skills allowing complex movements such as reaching and grasping. The aim of this study was to examine the effects of motor training on attention, reaching skills and stereotypies in patients with Rett Syndrome (RTT). twenty‐eight participants with RTT underwent cognitive and motor assessment to evaluate attention, reaching skills and stereotypies with an ABABABA design: before training (pre‐test phase), after a month of training (post‐test phase 1), after a month of the second training phase (post‐test phase 2) and at one month after the third training phase (post‐test phase 3). In all three B phases, participants received 30 minutes of motor training for 5 days a week over a 1‐month period. patients with RTT show long‐term improvements in seconds of attention and reaching skills and decreases in the intensity of stereotypies. This study suggests that motor abilities of participants with RTT can be improved with repeated, individual, well‐structured training. This article is protected by copyright. All rights reserved

    KCTD15 Is Overexpressed in her2+ Positive Breast Cancer Patients and Its Silencing Attenuates Proliferation in SKBR3 CELL LINE

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    Studies carried out in the last decade have demonstrated that the members of the KCTD protein family play active roles in carcinogenesis. Very recently, it has been reported that KCTD15, a protein typically associated with other physio-pathological processes, is involved in medulloblastoma and leukemia. Starting with some preliminary indications that emerged from the analysis of online databases that suggested a possible overexpression of KCTD15 in breast cancer, in this study, we evaluated the expression levels of the protein in breast cancer cell lines and in patients and the effects of its silencing in the HER2+ cell model. The analysis of the KCTD15 levels indicates a significant overexpression of the protein in Luminal A and Luminal B breast cancer patients as well as in the related cell lines. The greatest level of over-expression of the protein was found in HER2+ patients and in the related SKBR3 cell line model system. The effects of KCTD15 silencing in terms of cell proliferation, cell cycle, and sensitivity to doxorubicin were evaluated in the SKBR3 cell line. Notably, the KCTD15 silencing in SKBR3 cells by CRISPR/CAS9 technology significantly attenuates their proliferation and cell cycle progression. Finally, we demonstrated that KCT15 silencing also sensitized SKBR3 cells to the cytotoxic agent doxorubicin, suggesting a possible role of the protein in anti HER2+ therapeutic strategies. Our results highlight a new possible player in HER2 breast cancer carcinogenesis, paving the way for its use in breast cancer diagnosis and therapy

    Pharmacological Treatments and Therapeutic Drug Monitoring in Patients with Chronic Pain

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    Pain is an unpleasant sensory and emotional experience that affects every aspect of a patient’s life and which may be treated through different pharmacological and non-pharmacological approaches. Analgesics are the drugs most commonly used to treat pain, and in specific situations, the use of opioids may be considered with caution. These drugs, in fact, do not always induce optimal analgesia in patients, and several problems are associated with their use. The purpose of this narrative review is to describe the pharmacological approaches currently used for the management of chronic pain. We review several aspects, from the pain-scale-based methods currently available to assess the type and intensity of pain, to the most frequently administered drugs (non-narcotic analgesics and narcotic analgesics), whose pharmacological characteristics are briefly reported. Overall, we attempt to provide an overview of different pharmacological treatments while also illustrating the relevant guidelines and indications. We then report the strategies that may be used to reduce problems related to opioid use. Specifically, we focus our attention on therapeutic drug monitoring (TDM), a tool that could help clinicians select the most suitable drug and dose to be used for each patient. The actual potential of using TDM to optimize and personalize opioid-based pain treatments is finally discussed based on recent scientific reports
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