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Objectives: Variants in Cyclin F (CCNF) have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of CCNF in a large cohort of Italian ALS patients, to look for genotype-phenotype correlation of the mutations and to evaluate the CCNF-associated clinical features. Methods: We applied next-generation sequencing technologies on 971 unrelated Italian ALS patients and we filtered results to look for variants in CCNF gene. Results: We identified 13 rare missense variants in 16 index cases (2 familial and 14 sporadic), with a cumulative mutational frequency of 1.6%. The most prevalent variant was p.Phe197Leu, found in three patients. The clinical presentation was heterogeneous, with a classic phenotype in eight patients, upper motor neuron dominant (UMN-D) phenotype in four patients, and flail arm in four patients. Clinical evaluation for cognitive impairment was performed in 13 patients using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) test, demonstrating that almost half of the patients (n = 6) had variable degrees of frontal dysfunction. Discussion: In our cohort, we observed CCNF variants in 1.6% of patients (16/971), a percentage similar to that found in other series. Clinical presentation is heterogeneous, but CCNF variants are significantly associated to cognitive impairment. Conclusions: Our study expands the CCNF genetic variant spectrum in a large cohort of Italian ALS patients. Further studies are needed to assess genotype-phenotype associations of CCNF variants and to specify the role of each variant, which are quite common, especially in sALS patients. [ABSTRACT FROM AUTHOR]

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Introduction: Both children affected by nutritional and eating disorders (ED) and adults with bipolar disorder (BD) display symptoms of deficient emotional self-regulation, which can present in different forms. If we observe the clinical and developmental histories of individuals affected by EDs and BD, based on a cognitive systemic post-rationalist approach, we can hypothesise a continuum between the two disorders. The aim of this pilot study is to support the hypothesis - from an explanatory rather than a non-descriptive approach - that EDs and BD are the possible result of issues tied to biological and psychological self-regulation. When such an issue manifests during an individual's early stages through an eating disorder, it is more likely to result in an actual affective disorder, such as BD, during an individual's adult years., Materials and Methods: The study examined a total of 51 patients affected by an ED between the ages of 8 and 18. At least one of the parents had been diagnosed with a mental disorder. All of the subjects completed the Child Behavior Checklist (CBCL) and the Eating Disorders Inventory (EDI) II. Each of the patients underwent a pediatric assessment using their BMI to establish the type of ED. The parents were divided into two groups: subjects with BD and subjects affected by other psychopathologies., Results: Although the comparison between patients with EDs and parents with or without BD did not demonstrate a significant difference in any scale, it highlighted specific common characteristics between the disorder presented by the parent and the cognitive-emotional expressions of his or her child. In fact, the results indicate that the CBCL "problems of thought" scale explains much of the Impulsivity variance obtained by the EDI and that the CBCL "high withdrawal/depression" dependent factor highlighted a statistical significance for the EDI's "low interoceptive awareness" scale., Conclusions: The study presented limitations, especially with respect to the sample size examined, but it suggests a field that can be further explored to understand the reasons for a significance in the aspects related to contrasting emotional adjustments, impulsivity and depression/withdrawal, highlighting a connection with the parents' distinctive relational model.

The post-rationalist psychotherapy academy (non-classic cognitive approach) started at the end of the 80's with a series of consistent hypotheses. It is an academy which stems from contemporary psychotherapy and develops different areas, giving a strong contribution to theoretical and clinical psychotherapy. This academy has presented development as all other psychotherapy schools have, as well as the same difficulties and solutions. In this article, our aim is to show some tendencies that don't present an epistemological, theoretical, methodological and coherency, since these tendencies don't allow any confutation, which is the fundamental premise of Vittorio Guidano's academy. Finally, we stress how it's nowadays crucial in psychotherapy, to apply coherent methodological and conceptual positions based on the research.

To describe and to explain a clinical case from a cognitive systemic perspective means to focus on "how" the different data were set in order and organized during the therapy. The theoretical and clinical experience that uses this approach is based upon the integration of two conceptual models: the cognitive postrationalist one and the relational systemic one. These two approaches are founded upon the concept of system. The first one addresses the internal dimension, focusing on something that is not directly observable, taking into account the development processes and the maintenance of identity, that is to say the self organization of personal meaning. On the other hand, the second approach considers the structure of relations, its path and boundary, focusing on the mode of communication. The cognitive systemic model springs out of the integration of these two different ways of observing our object of investigation, intending to better the knowledge of the individual and of its context. The essay describes a clinical case study along a processual systemic method, in every phase, beginning with the intervention on the individual's system, subsequently engaging the family's system and all the sub systems that are part of the subjective experience.