Epilepsy and Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating mutations. Children with CFCS are prone to epilepsy, which is a major life-threatening complication. The aim of our study was to define the natural history of epilepsy in this syndrome and exploring genotype-phenotype correlations.

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications.

Update on the safety of second generation antipsychotics in youths: a call for collaboration among paediatricians and child psychiatrists.

During the past decade, a substantial increase in the use of second generation antipsychotics (SGAs) has occurred for a number of juvenile psychiatric disorders, often as off-label prescriptions. Although they were thought to be safer than older, first generation antipsychotics, mainly due to a lower risk of neurological adverse reactions, recent studies have raised significant concerns regarding their safety regarding metabolic, endocrinological and cardiovascular side effects. Aim of this paper is to update with a narrative review, the latest findings on safety of SGAs in youths.

Efficacy and Safety of Risperidone and Quetiapine in Adolescents With Bipolar II Disorder Comorbid With Conduct Disorder.

Although a frequent co-occurrence between bipolar disorder (BD) and conduct disorder (CD) in youth has been frequently reported, data about pharmacological management are scarce and focused on BD type I. Second generation antipsychotics are frequently used in clinical practice, but no comparative studies are available. The aim of this exploratory study was to compare efficacy and safety of risperidone and quetiapine in a sample of adolescents presenting a BD type II comorbid with CD.

Use of quetiapine in children and adolescents.

The atypical antipsychotic quetiapine has been used in different psychotic and non-psychotic disorders in children and adolescents in randomized clinical trials, open-label studies and chart reviews. Most of these studies suggest that quetiapine may be a promising agent with a potential for use in young patients. The aim of this paper is to critically review available literature on quetiapine in the treatment of children and adolescents with a variety of psychiatric disorders, including psychotic disorders, bipolar disorders (manic and depressive episodes), conduct disorder, autism spectrum disorder, Tourette's syndrome and personality disorders.

Nerve ultrasound follow-up in a child with Guillain-Barré syndrome.

Introduction: Nerve ultrasound has been used increasingly in neurophysiology laboratories, but data on Guillain-Barré syndrome (GBS) are still limited, and no follow-up studies are available.

Case Report: An 8-year-old boy was admitted with severe demyelinating GBS. Serial neurophysiological evaluations were performed initially and in follow-up.

Reporting intellectual capital in health care organizations: specifics, lessons learned, and future research perspectives.

This article analyzes the concept of intellectual capital (IC) in the health sector sphere by studying the case of a major nonprofit research organization in this sector, which has for some time been publishing IC reports. In the last few years, health care organizations have been the object of great attention in the implementation and transfer of managerial models and tools; however, there is still a lack of attention paid to the strategic management of IC as a fundamental resource for supporting and enhancing performance improvement dynamics. The main aim of this article is to examine the IC reporting model used by the Center of Molecular Medicine (CMM), a Swedish health organization which is an outstanding benchmark in reporting its IC.