A new tool to assess the occurrence of personality traits: the Phenomenological Personality Factor questionnaire

Personality traits are patterns of thoughts, feelings and actions that are usually assessed by means of psychometric questionnaires. In the present study we described the Phenomenological Personality Factor (PPF), a short questionnaire assessing the personality traits, taking into account the different interpretative models of personality

A cross-sectional study on demoralization in prostate cancer patients: The role of masculine self-esteem, depression, and resilience

Purpose: The current cross-sectional study had three objectives: (1) to assess the prevalence of depression and demoralization in a sample of prostate cancer (PCa) patients; (2) to examine whether masculine self-esteem and depression were associated with demoralization; and (3) to evaluate the role of resilience as a factor buffering the effects of masculine self-esteem and depression on demoralization. Methods: 197 PCa patients aged 48 to 79 years (M = 67.19; SD = 6.83) answered questions about masculine self-esteem, depression, resilience, and demoralization. An ANOVA was conducted to examine whether the association between demoralization and depressive symptoms was linear. A chi-square test was calculated to determine differences between depression and demoralization. Finally, a hierarchical multiple linear regression analysis with interaction terms was conducted to examine the associations between masculine self-esteem, depression, resilience, and demoralization. Results: Depression scores increased linearly with demoralization severity, but demoralization scores were higher than depression scores (21.3% vs. 15.2%). Lower scores on masculine self-esteem and higher scores on depressive symptoms were associated with greater demoralization. Resilience significantly moderated the association between masculine self-esteem and demoralization, but not between depression and demoralization. Conclusion: Assessment of depression, masculine self-esteem, resilience, and demoralization in the clinical setting is critical for improving the mental health status of PCa patients

Targeting monocyte chemotactic protein-1 synthesis with bindarit induces tumor regression in prostate and breast cancer animal models

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The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma

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Abnormalities of pubertal development and gonadal function in Noonan syndrome

BackgroundNoonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.MethodsIn this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.ConclusionsAccording to the literature and to our experience, NS patients seem to have a delay in puberty onset compared to the physiological timing reported in healthy children. Males with NS seem to be at risk of gonadal dysfunction secondary not only to cryptorchidism but also to other underlying developmental factors including the MAP/MAPK pathway and genetics. Long-term data on a large cohort of males and females with NS are needed to better understand the impact of delayed puberty on adult height, metabolic profile and well-being. The role of genetic counselling and fertility related-issues is crucial

Genomic and Genetic Disorders Biobank

The Genomic and Genetic Disorders Biobank (GGDB, formerly Genomic Disorders Biobank) was established in 2006 as an internal bioresource supported by own database, to collect and store biospecimens from genomic-disorder (e.g. microdeletion and duplication syndromes) affected individuals. Since 2009 the Bioresource has joined the Telethon Network of Genetic Biobanks and has expanded the collection to include also genetic mendelian diseases. The GGDB gathers wholly annotated clinical and longitudinal data and biological samples from affected and healthy donors, according to standard ethical principles. Biospecimens are available to the international scientific community for research projects in the field of the pathologies collected and stored in GGDB.</p

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease:a comparison of assessment instruments

Background Progressive cognitive decline is an inevitable feature of Huntington’s disease (HD) but specific criteria and instruments are still insufficiently developed to reliably classify patients into categories of cognitive severity and to monitor the progression of cognitive impairment. Methods We collected data from a cohort of 180 positive gene-carriers: 33 with premanifest HD and 147 with manifest HD. Using a specifically developed gold-standard for cognitive status we classified participants into those with normal cognition, those with mild cognitive impairment, and those with dementia. We administered the Parkinson’s Disease-Cognitive Rating Scale (PD-CRS), the MMSE and the UHDRS cogscore at baseline, and at 6-month and 12-month follow-up visits. Cutoff scores discriminating between the three cognitive categories were calculated for each instrument. For each cognitive group and instrument we addressed cognitive progression, sensitivity to change, and the minimally clinical important difference corresponding to conversion from one category to another. Results The PD-CRS cutoff scores for MCI and dementia showed excellent sensitivity and specificity ratios that were not achieved with the other instruments. Throughout follow-up, in all cognitive groups, PD-CRS captured the rate of conversion from one cognitive category to another and also the different patterns in terms of cognitive trajectories. Conclusion The PD-CRS is a valid and reliable instrument to capture MCI and dementia syndromes in HD. It captures the different trajectories of cognitive progression as a function of cognitive status and shows sensitivity to change in MCI and dementia