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Loss-of-function mutations in the gene encoding for the protein progranulin (PGRN), GRN, are one of the major genetic abnormalities involved in frontotemporal lobar degeneration. However, genetic variations, mainly missense, in GRN have also been linked to other neurodegenerative diseases. We found 12 different pathogenic/likely pathogenic variants in 21 patients identified in a cohort of Italian patients affected by various neurodegenerative disorders. We detected the p.Thr272SerfsTer10 as the most frequent, followed by the c.1179+3A>G variant. We characterized the clinical phenotype of 12 patients from 3 pedigrees carrying the c.1179+3A>G variant, demonstrated the pathogenicity of this mutation, and detected other rarer variants causing haploinsufficiency (p.Met1?, c.709-2A>T, p.Gly79AspfsTer39). Finally, by applying bioinformatics, neuropathological, and biochemical studies, we characterized 6 missense/synonymous variants (p.Asp94His, p.Gly117Asp, p.Ala266Pro, p.Val279Val, p.Arg298His, p.Ala505Gly), including 4 previously unreported. The designation of variants is crucial for genetic counseling and the enrollment of patients in clinical studies., (Copyright © 2020. Published by Elsevier Inc.)

Background: Dyslipidemias are a heterogeneous group of metabolic disorders mainly characterized by an increased risk of atherosclerotic cardiovascular disease (ASCVD) or other conditions, such as acute pancreatitis in hypertriglyceridemia. The aim of this study was to evaluate the effect of diet treatment and nutraceutical (NUTs) supplementation on the plasma lipid profile in outpatient dyslipidemic subjects, considering the influence of several factors (i.e., gender, age, body mass index, alcohol consumption, and smoking habits)., Methods: 487 dyslipidemic patients spanning from 2015 to 2019 were treated with a Mediterranean diet or NUTs in a real-word setting and were retrospectively analyzed. General characteristics and lipid profile at baseline and after the follow-up period were evaluated., Results: Diet alone reduced total cholesterol (-19 mg/dL, -7.7%), LDL cholesterol (-18 mg/dL, -10.1%), and triglycerides (-20 mg/dL, -16.7%). Triglycerides (TG) decreased more in men, while women were associated with higher reduction of LDL cholesterol (LDL-C). Different types of NUTs further ameliorate lipid profiles when associated with diet. Nevertheless, most patients at low ASCVD risk (222 out of 262, 81.6%) did not achieve the 2019 ESC/EAS guidelines recommended LDL-C goals (i.e., LDL-C < 116 mg/dL)., Conclusion: Lipid-lowering diet improves lipid profile, and NUTs can boost its efficacy, but taken together they are mainly unsatisfactory with respect to the targets imposed by 2019 EAS/ESC guidelines.

Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed next-generation sequencing panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions. Forty-nine patients (19.9%) carried known pathogenic or novel, likely pathogenic, variants, involving both common (presenilin 1, presenilin 2, C9orf72, and granulin) and rare (optineurin, serpin family I member 1 and protein kinase cyclic adenosine monophosphate (cAMP)-dependent type I regulatory subunit beta) dementia-associated genes. Our results support the use of an extended next-generation sequencing panels as a quick, accurate, and cost-effective method for diagnosis in clinical practice. This approach could have a significant impact on the proportion of tested patients, especially among those with an early disease onset., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background and Aims: In Italy, the reform of the mental health system in 1978 should have drastically changed the provision of care and pathways of patients seeking to obtain it. The aim of this article is to examine the current pathways to psychiatric care in Italy., Methods: We used a method developed in the World Health Organization international collaborative studies to investigate pathways to care in 15 Italian mental health centers. We recruited 420 patients with a psychiatric illness and explored the care pathways they took to reach to psychiatric services and the delays from the onset of illness to reaching psychiatric care., Results: The majority of patients (33.8%) had direct access to mental health care, whereas the others arrived to a specialist in psychiatry through general hospitals (20.3%), general practitioners (33.0%) or private practitioners (9.8%). The main diagnosis for referral was neurotic disorder (36.6%), followed by affective disorder (35.4%) and psychotic disorder (11.5%). The delay from onset of illness to psychiatric care was greater for patients with psychotic disorders than for those with affective and neurotic disorders. The most frequently prescribed treatments were pharmacotherapy (56%), psychological support (8%), and psychotherapy (7.0%); 15% of the patients received no treatment., Conclusions: Our multicenter study shows that although general practitioners and hospital doctors are still the main referral point for mental health care, a greater proportion of patients are first seen in private settings or directly reach mental health centers, compared to previous surveys conducted in Italy. However, a stronger collaboration of psychiatrists with general practitioners and psychologists is still needed., (© The Author(s) 2013.)

Aims: The European Federation of Psychiatric Trainees (EFPT), founded in London in 1992, is an independent international federation of psychiatric trainees' national associations. The EFPT is engaged in several actions in order to pursue its general aims to promote high standards of quality of psychiatric training and promote the collaboration and networking between European psychiatric trainees., Methods: Member associations constitute the general assembly that meets annually during the European Forum of Psychiatric Trainees. During the Forum, working groups are created and the activities for the next year are planned., Results: Regular activities of the EFPT include the production of statements expressing the standpoint of trainees on educational issues, the conduction of research projects, the creation of new national trainees' associations, the facilitation of networking among European psychiatric trainees and the organization an annual meeting (EFPT Forum). The last EFPT Forum has been organized in Sorrento (Italy) on May 2012. Psychiatric trainees from 37 European countries have registered to this event., Discussion: EFPT activities constitute a opportunity for psychiatric trainees to directly participate in the improvement of their psychiatric training and to establish a network with European colleagues that will contribute to their professonal development.

Aims: To assess in a sample of people with mental disorders: 1) fear of crime and perceived insecurity; 2) the association between fear of crime and insecurity; 3) the incidence of crimes., Methods: Twenty-four Italian mental health centres have been invited to participate in the study from the network of the Early Career Psychiatrists' Committee of the Italian Psychiatric Association. In each participating centre, the first 20 patients consecutively accessing the mental health centre between February and April 2011 have been recruited. All patients have been assessed using validated assessment tools., Results: The final sample consists of 426 patients. They are mostly female (70.1%), with a mean age of 45 years (± 13.5), and with a good level of education. Fifty-two percent of patients have a diagnosis of mood disorders, and 37.8% on anxiety spectrum disorders. About half of the sample declares that the most prominent feeling toward life is uncertainty. Almost all patients report to have at least one big fear, with the most frequently report being: 1) loss or death of a loved one (41.2%); 2) financial constraint (28.4%); 3) physical or mental health problems (26.5%)., Discussion and Conclusions: Our results show the presence of a common sense of uncertainty among patients, probably as a result of the historical moment we are facing. It is reasonable that this attitude toward life can have a detrimental impact on patients' psychological and physical wellbeing, contributing to high levels of distress. Further studies are needed in order to clarify the possible relationship between fears, uncertainty and mental disorders.