Adulthood with Turner Syndrome: Quality of life, psychosocial adjustment and clinical management in 70 Italian women

Abstract Background: Turner syndrome (TS) is a chromosomal abnormality (total or partial absence of one of the sexual chromosomes in some or all cells of the body), which affects approximately 1:2000 female. Principal characteristics are short stature and gonadal disgenesis. Clinical management consist of Growth Hormone (GH) treatment and oestrogen replacement therapy (HRT), to induce development of secondary characteristics and to avoid the sequelae of oestrogen deficiency. Aim of the study: To assess clinical management, quality of life (QoL) and general psychosocial adjustment of women with TS. Population: 70 adult Caucasian females with TS (mean age: 27.8, ± 7.6; range 18-48 y.). Setting: Specialist service for Rare Disease care, University Hospital. Methods: Subjects were required to fill in questionnaires collecting ASR, WHOQOL, and 8 open questions. Data were compared with those of the Italian population or to those collected in a comparison group (70 healthy females, mean age: 27.9, ±7.3, range 21-48 y.). Results: Women with TS are educated as well as the Italian Population, but they have a less successful professional life. They show good QoL in general, but they appeared less satisfied in social area. They had statistically higher scores than the comparison group for depression, anxiety and withdrawal. Are less involved in a love relationship. Diagnosis communication was mostly performed by doctors or parents, satisfaction was higher when information was given by parents. Main preoccupation about TS are infertility, feeling of being different and future health problem. Conclusions: Italian people with TS were generally well adapted and have a good QoL, but lived more often with parents and show impaired sentimental and sexual life. They have higher degree of psychological distress compared to a comparison group. Psychological intervention should firstly address parents in order to encourage an open communication on diagnosis issues and on sexual education.

Presa di decisione in situazioni rischiose: effetto della rabbia

The current studies assessed the role of trait anger and anger expression styles on risk decision-making in adulthood, adolescence and childhood. In the first experiment 158 adults completed the STAXI-2 and an inventory consisting of a battery of hypothetical everyday decision-making scenarios. Participants were also asked to evaluate the perception of risk for each chosen option and some contextual characteristics, that are familiarity and salience for each scenario. The study provides evidence for a relationship between individual differences in the tendency to feel and express anger and risky decisions and for mediation effects of familiarity and salience appraisals. Moreover, results indicated that trait anger was predictive of risk perception and they provide evidence for a positive relationship between risk decision-making and risk perception. In the second study, we examined the relationship between specific components of anger (i.e., cognitive, affective and behavioural) and risk decision-making in adolescents. 101 subjects completed specific tasks, measuring risk decision-making, assessed using hypothetical choice scenarios, and anger, evaluated through the STAXI-CA and the MSAI-R. Results showed that adolescents higher on hostility, anger experience and destructive expression, make more risky decisions in everyday life situations. Moreover, regression analyses indicated that destructive expression of anger and hostility were predictive of adolescents’ risky decisions. In the third experiment, 104 children completed three tasks: the STAXI-CA, the MSAI-R and a task measuring risk decision-making in everyday situations. Subjects were also asked to evaluate the degree of danger, benefit, fun and fear perceived for each risky choice. Analyses indicated that: (a) risk decision-making was predicted by both trait anger and outward expression of anger; (b) destructive expression o anger was predictive of children’s risky decisions; (c) appraisal of danger fully mediated the relation between trait anger and risk; (d) perceptions of benefit, scare and fun partially mediated the relationship between trait anger and risk; and (e) appraisal of danger partially mediated the relationship between outward expression of anger and risk decision-making. The results provide evidence for a relationship between dispositional anger and risk decision-making during childhood, suggesting a possible explanation of the mechanisms below. In particular, risk decision-making can be viewed as the output of cognitive and emotive processes, linked to dispositional anger that leads children to be amused, optimistic and fearless in potentially risky situations. These findings substantiate the importance of incorporating cognitive and emotive factors in theories that seek to explain the relationship between personality traits and risk decision making across a broad range of age.

Effect of loss of CDKL5 on brain development in a new Cdkl5 knockout mouse model

Rett's Syndrome (RTT) is a severe neurodevelopmental disorder, characterized by cognitive disability that appears in the first months/years of life. Recently, mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been detected in RTT patients characterized by early-onset seizures. CDKL5 is highly expressed in the brain starting from early postnatal stages to adulthood, suggesting the importance of this kinase for proper brain maturation and function. However, the role/s of CDKL5 in brain development and the molecular mechanisms whereby CDKL5 exerts its effects are still largely unknown. In order to characterize the role of CDKL5 on brain development, we created a mice carrying a targeted conditional knockout allele of Cdkl5. A first behavioral characterization shows that Cdkl5 knockout mice recapitulate several features that mimic the clinical features described in CDKL5 patients and are a useful tool to investigate phenotypic and functional aspects of Cdkl5 loss. We used the Cdkl5 knockout mouse model to dissect the role of CDKL5 on hippocampal development and to establish the mechanism/s underlying its actions. We found that Cdkl5 knockout mice showed increased precursor cell proliferation in the hippocampal dentate gyrus. Interestingly, this region was also characterized by an increased rate of apoptotic cell death that caused a reduction in the final neuron number in spite of the proliferation increase. Moreover, loss of Cdkl5 led to decreased dendritic development of new generated granule cells. Finally, we identified the Akt/GSK3-beta signaling as a target of Cdkl5 in the regulation of neuronal precursor proliferation, survival and maturation. Overall our findings highlight a critical role of CDKL5/AKT/GSK3-beta signaling in the control of neuron proliferation, survival and differentiation and suggest that CDKL5-related alterations of these processes during brain development underlie the neurological symptoms of the CDKL5 variant of RTT.

Emerging adulthoods. Percorsi giovanili di partecipazione e cittadinanza in prospettiva intergenerazionale

La tesi tematizza come proprio oggetto di indagine i percorsi di partecipazione politica e civica dei giovani nei contesti di transizione alla vita adulta, concentrandosi sull’influenza delle relazioni tra generazioni su tali espressioni di coinvolgimento. L’approfondimento empirico consiste in una ricerca qualitativa condotta presso il quartiere Navile di Bologna nel 2012. Basandosi sull’approccio metodologico della grounded theory, essa ha coinvolto un campione di giovani e un campione di adulti per loro significativi attraverso interviste semistrutturate. Dall’analisi emerge una rilevante disaffezione giovanile nei confronti della politica che, tuttavia, non traduce in un rifiuto del coinvolgimento, ma in una “partecipazione con riserva” espressa attraverso atteggiamenti tutt’altro che passivi nei confronti della politica formale - basati sulla logica della riforma, della resistenza o della ribellione - e mediante un forte investimento in attività partecipative non convenzionali (associazionismo e coinvolgimento). A fare da sfondo all’interesse partecipativo dei giovani si colloca una lettura negativa della propria condizione presente ed un conseguente conflitto intergenerazionale piuttosto manifesto, che si riflette sulle stesse modalità di attivazione. La politica, nelle sue espressioni più strettamente formali, viene interpretata come un ‘territorio adulto’, gestito secondo logiche che lasciano poco spazio ai giovani i quali, per tale ragione, scelgono di attivarsi secondo modalità alternative in cui il confronto con l’altro, quando presente, avviene prevalentemente tra pari o su basi avvertite come più paritarie. Il distanziamento dei giovani dalla politica formale riflette quindi una parallela presa di distanza dagli adulti, i quali risultano smarriti nello svolgimento delle loro funzioni di modello e di riconoscimento. La loro ambivalenza rispetto ai giovani - ossia il continuo oscillare tra il profondo pessimismo e il cieco ottimismo, tra la guida direttiva e la deresponsabilizzazione - si traduce in un riconoscimento parziale delle reali potenzialità ed esigenze dei giovani come cittadini ed adulti emergenti.

Marco Zoppo e il Rinascimento tra l'Emilia e il Veneto

La presente ricerca si occupa della figura di Marco Zoppo, pittore e artista poliedrico, nato a Cento, in Emilia, intorno al 1432. L'indagine si concentra soprattutto sugli esordi e la prima maturità di questo artista, che lo videro attivo in centri importanti come Bologna e Padova e Venezia.

The phenomenological experiences of Autobiographical Memory: A cross-sectional and a longitudinal study

Phenomenology is a critical component of autobiographical memory retrieval. Some memories are vivid and rich in sensory details whereas others are faded; some memories are experienced as emotionally intense whereas others are not. Sutin and Robins (2007) identified 10 dimensions in which a memory may vary—i.e., Vividness, Coherence, Accessibility, Sensory Details, Emotional Intensity, Visual Perspective, Time Perspective, Sharing, Distancing, and Valence—and developed a comprehensive psychometrically sound measure of memory phenomenology, the Memory Experiences Questionnaire (MEQ). Phenomenology has been linked to underlining stable dispositions—i.e. personality, as well as to a variety of positive/negative psychological outcomes—well-being and life satisfaction, depression and anxiety, among others. Using the MEQ, a cross-sectional and a longitudinal study were conducted on a large sample of American and Italian adults. In both studies, participants retrieved two ‘key’ personal memories, a Turning Point and a Childhood Memory, and rated the affect and phenomenology of each memory. Participants also completed self-reported measures of personality (i.e. Neuroticism and Conscientiousness), and measures of depression, well-being and life satisfaction. The present research showed that phenomenological ratings tend (a) to cross-sectionally increase across adulthood (Study 1), and (b) to be moderately stable over time, regardless the contents of the memories (Study 2). Interrelations among memory phenomenology, personality and psychological outcome variables were also examined (Study 1 and Study 2). In particular, autobiographical memory phenomenology was proposed as a dynamic expression of personality functioning that partially explains adaptive/maladaptive psychological outcomes. In fact, the findings partially supported the hypothesized mediating effect of phenomenology on the personality association with psychological outcomes. Implications of the findings are discussed proposing future lines of research. In particular, the need for more longitudinal studies is highlighted, along with the combined application of both self-report questionnaires and narrative measures.

Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy (NFLE).

Nocturnal Frontal Lobe Epilepsy (NFLE) is characterized by onset during infancy or childhood with persistence in adulthood, family history of similar nocturnal episodes simulating non-REM parasomnias (sleep terrors or sleepwalking), general absence of morphological substrates, often by normal interictal electroencephalographical recordings (EEGs) during wakefulness. A family history of epilepsy may be present with Mendelian autosomal dominant inheritance has been described in some families. Recent studies indicate the involvement of neuronal nicotinic acetylcholine receptors (nAChRs) in the molecular mechanisms of NFLE. Mutations in the genes encoding for the α4 (CHRNA4) and ß2 (CHRNB2) subunits of the nAChR induce changes in the biophysical properties of nAChR, resulting generally in a “gain of function”. Preclinical studies report that activation of a nuclear receptor called type peroxisome proliferator-activated receptor (PPAR-α) by endogenous molecules or by medications (e.g. fenofibrate) reduces the activity of the nAChR and, therefore, may decrease the frequency of seizures. Thus, we hypothesize that negative modulation of nAChRs might represent a therapeutic strategy to be explored for pharmacological treatment of this form of epilepsy, which only partially responds to conventional antiepileptic drugs. In fact, carbamazepine, the current medication for NFLE, abolishes the seizures only in one third of the patients. The aim of the project is: 1)_to verify the clinical efficacy of adjunctive therapy with fenofibrate in pharmacoresistant NFLE and ADNFLE patients; focousing on the analysis of the polysomnographic action of the PPAR- agonist (fenofibrate). 2)_to demonstrate the subtended mechanism of efficacy by means of electrophysiological and behavioral experiments in an animal model of the disease: particularly, transgenic mice carrying the mutation in the nAChR 4 subunit (Chrna4S252F) homologous to that found in the humans. Given that a PPAR-α agonist, FENOFIBRATE, already clinically utilized for lipid metabolism disorders, provides a promising therapeutic avenue in the treatment of NFLE\ADNFLE.