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The post-operative pediatric cerebellar mutism syndrome (CMS) affects about one-third of children and adolescents following surgical removal of a posterior fossa tumor (PFT). According to the Posterior Fossa Society consensus working definition, CMS is characterized by delayed-onset mutism/reduced speech and emotional lability after cerebellar or 4th ventricle tumor surgery in children, and is frequently accompanied by additional features such as hypotonia and oropharyngeal dysfunction/dysphagia. The main objective of this work was to develop a diagnostic scale to grade CMS duration and severity. Thirty consecutively referred subjects, aged 1–17 years (median 8 years, IQR 3–10), were evaluated with the proposed Post-Operative Pediatric CMS Survey after surgical resection of a PFT and, in case of CMS, for 30 days after the onset (T0) or until symptom remission. At day 30 (T1), CMS was classified into mild, moderate, or severe according to the proposed scale. CMS occurred in 13 patients (43%, 95% C.I.: 25.5–62.6%), with mild severity in 4 cases (31%), moderate in 4 (31%), and severe in 5 (38%). At T1, longer symptom persistence was associated with greater severity (p = 0.01). Greater severity at T0 predicted greater severity at T1 (p = 0.0001). Children with a midline tumor location and those aged under 5 years at diagnosis were at higher risk of CMS (p = 0.025 and p = 0.008, respectively). In conclusion, the proposed scale is a simple and applicable tool for estimating the severity of CMS at its onset, monitoring its course over time, and providing an early prognostic stratification to guide treatment decisions. What is Known:• Post-operative pediatric Cerebellar Mutism Syndrome (CMS) is a complex phenomenon with a wide spectrum of symptoms that may manifest in children undergoing the resection of a posterior fossa tumor (PFT) and that can result into long-term impairment. What is New:• This study developed and pilot-tested an easily applicable diagnostic and severity scale to grade the duration and the severity of symptoms of the CMS.• The proposed scale was found to be a sensitive instrument to identify even mild CMS presentations.• By scoring not only the duration but also the severity of symptoms the scale allows a more accurate prognostic stratification for an optimal planning of clinical and rehabilitative interventions.

Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) and glycogen storage disease type 2 (GSD2) patients had a delay on the Bayley-III scales. On Wechsler scales, DMD and DM1 patients showed lower FSIQ scores, with an intellectual disability (ID) in 27% and 50%, respectively. FSIQ was normal in Becker muscular dystrophy (BMD), GSD2, and hereditary motor sensory neuropathy (HMSN) patients, while higher individual scores were found in the spinal muscular atrophy (SMA) group. In the DM1 cohort, lower FSIQ correlated with worse motor performance (ρ = 0.84, p < 0.05), and delayed speech acquisition was associated with ID (p = 0.048), with worse cognitive impairment in the congenital than in the infantile form (p = 0.04). This study provides further evidence of CNS in some NMDs and reinforces the need to include cognitive assessment in protocols of care of selected pediatric NMDs.

Purpose The COVID-19 pandemic and related lockdown measures drastically changed health care and emergency services utilization. This study evaluated trends in emergency department (ED) access for seizure-related reasons in the first 8 weeks of lockdown in Italy. Methods All ED accesses of children (

Background In addition to morphological and cytogenetic features, acute myeloid leukemias are characterized by mutations that can be used for target-therapy; also the minimal/measurable residual disease (MRD) could be an important prognostic factor. The purpose of this retrospective study was to investigate if somatic mutations could represent an additional prognostic value in respect of MRD alone. Method At baseline, 98 patients were tested for NPM1, FLT3, and for WT1 expression; 31 for ASXL1, TET2, IDH1, IDH2, N-RAS, WT1, c-KIT, RUNX1, and DNMT3A. The same genes have been also tested after induction and consolidation. Results Overall, 60.2% of our patients resulted mutated: 24.5% carried mutations of FLT3-ITD, 38.7% of NPM1, 48.4% of c-KIT, 25.8% of N-RAS and 19.3% of IDH2. The probability of achieving a complete response (CR) was higher for younger patients, with low ELN risk score, NPM1-mutated, with low WT1 levels, and without FLT3. The presence of additional mutations represented a poor predictive factor: only 19% of these cases achieved CR in comparison to 43% of subjects without any of it. Concerning survival, it was conditioned by a lower ELN risk score, younger age, reduction > 1 log of the NPM1 mutational burden, disappearance of FLT3 mutations and lower WT1 expression. Regarding the role of the additional mutations, they impaired the outcome of 20% of the already MRD-negative patients. Concerning the possibility of predicting relapse, we observed an increase of the NPM1 mutational burden at the time-point immediately preceding the relapse (about 2 months earlier) in 50% of subjects. Similarly concerning WT1, an increase of its expression anticipated disease recurrence in 64% of cases. Conclusions We demonstrated that additional somatic mutations are able to impair outcome of the already MRD-negative subjects. About MRD, we suggest a prognostic role also for the WT1 expression. Finally, we considered as relevant the assessment of NPM1 quantity clearance instead of the presence/absence of mutations alone. Still remains in doubt the utility in terms of long-term prognosis of a baseline more complex mutational screening; we could hypothesize that it would be useful for those patients where other markers are not available or who reached the MRD negativity. Electronic supplementary material The online version of this article (10.1186/s12935-019-0807-0) contains supplementary material, which is available to authorized users.

Purpose Methylphenidate (MPH), the first-line medication in children with attention-deficit/hyperactivity disorder (ADHD), is associated with increased risk of sleep disorders. Melatonin has both hypnotic and chronobiotic properties that influence circadian rhythm sleep disorders. This study explores the effectiveness of melatonin in children with ADHD who developed sleep problems after starting MPH. Patients and methods This study, based on a clinical database, included 74 children (69 males, mean age 11.6±2.2 years) naturalistically treated with MPH (mean dosage 33.5±13.5 mg/d). The severity of sleep disorder (sleep onset delay) was recorded at baseline and after a follow-up of at least 4 weeks using a seven-point Likert scale according to the Clinical Global Impression Severity score. Effectiveness of melatonin on sleep (mean dosage 1.85±0.84 mg/d) after 4 weeks was assessed using a seven-point Likert scale according to the Clinical Global Impression Improvement (CGI-I) score, and patients who scored 1 (very much improved) or 2 (much improved) were considered responders. Results Clinical severity of sleep disorders was 3.41±0.70 at the baseline and 2.13±1.05 after the follow-up (P

Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and methods We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52. Results The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (p≤0.001). Discussion Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up. Conclusion Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations.

OBJECTIVE: By forcing closure of schools, curtailing outpatient services, and imposing strict social distancing, the COVID-19 pandemic has abruptly affected the daily life of millions worldwide, with still unclear consequences for mental health. This study aimed to evaluate if and how child and adolescent psychiatric visits to hospital emergency departments (EDs) changed during the pandemic lockdown, which started in Italy on February 24, 2020. METHODS: We examined all ED visits by patients under 18 years of age in the 7 weeks prior to February 24, 2020, and in the subsequent 8 weeks of COVID-19 lockdown at two urban university hospitals, in Turin and Rome, Italy. ED visits during the corresponding periods of 2019 served as a comparison using Poisson regression modeling. The clinician's decision to hospitalize or discharge home the patient after the ED visit was examined as an index of clinical severity. RESULTS: During the COVID-19 lockdown, there was a 72.0% decrease in the number of all pediatric ED visits (3,395) compared with the corresponding period in 2019 (12,128), with a 46.2% decrease in psychiatric visits (50 vs 93). The mean age of psychiatric patients was higher in the COVID-19 period (15.7 vs 14.1 years). No significant changes were found in hospitalization rate or in the prevalence distribution of the primary reason for the psychiatric ED visit (suicidality, anxiety/mood disorders, agitation). CONCLUSIONS: In the first 8 weeks of the COVID-19-induced social lockdown, the number of child and adolescent psychiatric ED visits significantly decreased, with an increase in patient age. This decrease does not appear to be explained by severity-driven self-selection and might be due to a reduction in psychiatric emergencies or to the implementation of alternative ways of managing acute psychopathology.

Aim: Early onset of psychopathology is often an index of a more severe clinical course and worse prognosis. This review examined the course of bipolar disorder (BD) with onset in childhood and adolescence, with a focus on persistence of symptoms, severity of illness, comorbidity, and functional impairment. Methods: The databases of PubMed, Embase, and PsycInfo were systematically searched for publications since 1990 reporting on long-term (12 months or longer) assessments of patients with early onset BD. Results: Forty-two relevant publications were identified, which reported on data derived from 15 different patient cohorts, including 7 prospective research psychopathology studies, 4 medical record reviews, 2 follow-ups of clinical trial samples, 1 managed care database, and 1 nationwide registry, for a total of 10,187 patients. The length of follow-ups ranged from 1.0 to 15 years. Diagnostic stability of BD ranged from 73% to 100% over ten years. Recovery rate from an index episode was 81.5–100% and recurrence rate was 35–67%. Suicide attempt cumulative prevalence in five years was 18–20%. Earlier age at the first episode predicted a more severe clinical course. Conclusions: Early onset BD persists over time through adolescence, with homotypic diagnostic continuity over the years, but heterogeneity in the severity of the clinical course. Whether early identification and treatment improves distal prognosis remains to be further investigated.

INTRODUCTION/AIMS: We aim to describe 12-month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength and Lip Force at baseline and 12 month visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 years old, with CDM were enrolled. 6MWT, 10 Meter Run and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-month performance was an improvement in 6MWT in children 3–6 years old (p=0.008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 years, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 years. Participants with CTG repeat lengths 1000. DISCUSSION: 6MWT, 10 Meter Run and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 years old and

Because of increasing survival rates in pediatric oncology, attention is focusing on cancer and its treatment-related side effects. Rehabilitation may reduce their impact. However, the literature does not provide strong evidence regarding rehabilitation pathways. Therefore, the Italian Association of Pediatric Hematology and Oncology organized a consensus conference on the role of rehabilitation of motor impairments in children/adolescents affected by leukemia, central nervous system, and bone tumors to define recommendations for daily practice. The grading of recommendation assessment, developing and evaluation (GRADE) method was used in order to formulate questions, select outcomes, evaluate evidence, and create recommendations. This paper includes the results on the rehabilitation assessment.

Graphical abstract, COVID-19 is a medical emergency, with 20 % of patients presenting with severe clinical manifestations. From the pathogenetic point of view, COVID-19 mimics two other well-known diseases characterized by cytokine storm and hyper-activation of the immune response, with consequent organ damage: acute graft-versus-host disease (aGVHD) and macrophage activation syndrome (MAS). Hematologists are confident with these situations requiring a prompt therapeutic approach for switching off the uncontrolled cytokine release; here, we discuss pros and cons of drugs that are already employed in hematology in the light of their possible application in COVID-19. The most promising drugs might be: Ruxolitinib, a JAK1/2 inhibitor, with a rapid and powerful anti-cytokine effect, tyrosine kinase inhibitors (TKIs), with their good anti-inflammatory properties, and perhaps the anti-Cd26 antibody Begelomab. We also present immunological data from gene expression experiments where TKIs resulted effective anti-inflammatory and pro-immune drugs. A possible combined treatment algorithm for COVID-19 is here proposed.

Objectives Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A. Case presentation The natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level. Conclusions Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.

To define the role of spleen stiffness (SS) and liver stiffness (LS) in myelofibrosis and other Philadelphia (Ph)-negative myeloproliferative neoplasms (MPNs), we studied, by ultrasonography (US) and elastography (ES), 70 consecutive patients with myelofibrosis (MF) (no.43), essential thrombocythemia (ET) (no.10), and polycythemia vera (PV) (no.17). Overall, the median SS was not different between patients with MF and PV (p = 0.9), however, both MF and PV groups had significantly higher SS than the ET group (p = 0.011 and p = 0.035, respectively) and healthy controls (p &lt, 0.0001 and p = 0.002, respectively). In patients with MF, SS values above 40 kPa were significantly associated with worse progression-free survival (PFS) (p = 0.012, HR = 3.2). SS also correlated with the extension of bone marrow fibrosis (BMF) (p &lt, 0.0001). SS was higher in advanced fibrotic stages MF-2, MF-3 (W.H.O. criteria) than in pre-fibrotic/early fibrotic stages (MF-0, MF-1) (p &lt, 0.0001) and PFS was significantly different in the two cohorts, with values of 63% and 85%, respectively (p = 0.038, HR = 2.61). LS significantly differed between the patient cohort with MF and healthy controls (p = 0.001), but not between the patient cohorts with ET and PV and healthy controls (p = 0.999 and p = 0.101, respectively). We can conclude that organ stiffness adds valuable information to the clinical work-up of MPNs and could be employed to define patients at a higher risk of progression.

Background Role of erythropoietin (EPO) in the treatment of late anemia in patients with Chronic Myeloid Leukemia (CML) is still undefined. Methods Fifty CML patients treated at 14 institutions with frontline imatinib for at least 12 months and in stable complete cytogenetic response who developed a late chronic anemia treated with EPO were retrospectively evaluated. Results Median time from imatinib start to EPO treatment was 42.2 months [interquartile range (IQR) 20.8-91.9]. Median Hb value at EPO starting time was 9.9 g/dL (IQR 8.9-10.3): Eleven patients (22.0%) were transfusion dependent. Alpha-EPO (40 000 UI weekly) was employed in 37 patients, beta-EPO (30 000 UI weekly) in 9 patients, zeta-EPO (40 000 UI weekly) in 2 patients, and darbepoetin (150 mcg/weekly) in the remaining 2 patients. On the whole, 41 patients (82.0%) achieved an erythroid response, defined as a stable (>3 months) improvement >1.5 g/dL of Hb level, and 9 patients (18.0%) indeed resulted resistant. Among responding patients, 10 relapsed after a median time from EPO start of 20.7 months (IQR 10.8-63.7). No EPO-related toxicity was observed. Conclusions Results of EPO treatment for late chronic anemia during long-lasting imatinib therapy are encouraging, with a high rate of response.

Background Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. Methods In this study, we monitored disease progression up to three years in eight young patients with PD. Based on the literature data and the long term personal experience, we selected validated functional scales for neuromuscular disorders and compared the results to identify a simple and reliable protocol for the follow-up of children with PD. Moreover, we evaluated cognitive functions using developmental/cognitive tests. Results Based on study results, we suggest that motor functions in children with PD could be better assessed by Chop Intend, MFM20 (Motor Function Measure Scale for Neuromuscular Diseases 20) and NSAA (North Star Ambulatory Assessment), according to age and functional level. Evaluation should be completed with ROM (Range Of Motion) measurement, MRC (Medical Research Council) evaluation and 6MWT (6 Minute Walk test) when possible. Conclusions The proposed protocol seems to be reliable and should be done every six months, because of the progressive natural history of the disease, the rapid changes typical of developmental age and the need to document ERT effects. About cognitive functions, additional tests to classical intelligence scales (WISC, WPPSI) should be useful to better describe specific neuropsychological profile.

Purpose In Italy, most children and adolescents affected by oncological diseases are treated in one of the centers within the Italian Association of Pediatric Hematology and Oncology (AIEOP). AIEOP relies on groups of experts; each of them develops interventions in their specific field of expertise to improve the diagnostic, therapeutic, and assistance pathway of patients and families. Although rehabilitation is an important field in pediatric oncology, until recently there was no working group dedicated to it. This study intends to show the steps that led to the creation of the rehabilitation working group in AIEOP. Methods First of all, a survey to identify the various rehabilitation approaches applied throughout Italian centers was sent via email to 39 AIEOP centers that provide rehabilitation. Results Answers received from 31 centers showed a lack of homogeneity in rehabilitation methods in terms of type of treatment, number of patients, and outcome measurement. Conclusions Some results of the survey were chosen as basic criteria of clinical best practice on which to build the first rehabilitation working-group at the national level to be proposed to the AIEOP commission.

Notwithstanding the introduction of Tyrosine Kinase Inhibitors (TKIs) revolutionized the outcome of Chronic Myeloid Leukemia (CML), one third of patients still suspends treatment for failure response. Recent research demonstrated that several BCR/ABL1-independent mechanisms can sustain resistance, but the relationship between these mechanisms and the outcome has not yet been fully understood. This study was designed to evaluate in a “real-life” setting if a change of expression of several genes involved in the WNT/BETA-CATENIN, JAK-STAT, and POLYCOMB pathways might condition the outcome of CML patients receiving TKIs. Thus, the expression of 255 genes, related to the aforementioned pathways, was measured by quantitative PCR after 6 months of therapy and compared with levels observed at diagnosis in 11 CML patients, in order to find possible correlations with quality of response to treatment and event-free-survival (EFS). These results were then re-analyzed by the principal component method (PCA) for tempting to better cluster resistant cases. After 12 months of therapy, 6 patients achieved an optimal response and 5 were “resistant;” after application of both statistical methods, it was evident that in all pathways a significant overall up-regulation occurred, and that WNT was the pathway mostly responsible for the TKIs resistance. Indeed, 100% of patients with a “low” up-regulation of this pathway achieved an optimal response vs. 33% of those who showed a “high” gene over-expression (p = 0.016). Analogously, the 24-months EFS resulted significantly influenced by the degree of up-regulation of the WNT signaling: all patients with a “low” up-regulation were event-free vs. 33% of those who presented a “high” gene expression (p = 0.05). In particular, the PCA analysis confirmed the role of WNT pathway and showed that the most significantly up-regulated genes with negative prognostic value were DKK, WNT6, WISP1, and FZD8. In conclusion, our results sustain the need of a wide and multitasking approach in order to understand the resistance mechanisms in CML.

Altered circulating levels of free fatty acids (FFAs), namely short chain fatty acids (SCFAs), medium chain fatty acids (MCFAs), and long chain fatty acids (LCFAs), are associated with metabolic, gastrointestinal, and malignant diseases. Hence, we compared the serum FFA profile of patients with celiac disease (CD), adenomatous polyposis (AP), and colorectal cancer (CRC) to healthy controls (HC). We enrolled 44 patients (19 CRC, 9 AP, 16 CD) and 16 HC. We performed a quantitative FFA evaluation with the gas chromatography–mass spectrometry method (GC–MS), and we performed Dirichlet-multinomial regression in order to highlight disease-specific FFA signature. HC showed a different composition of FFAs than CRC, AP, and CD patients. Furthermore, the partial least squares discriminant analysis (PLS-DA) confirmed perfect overlap between the CRC and AP patients and separation of HC from the diseased groups. The Dirichlet-multinomial regression identified only strong positive association between CD and butyric acid. Moreover, CD patients showed significant interactions with age, BMI, and gender. In addition, among patients with the same age and BMI, being male compared to being female implies a decrease of the CD effect on the (log) prevalence of butyric acid in FFA composition. Our data support GC–MS as a suitable method for the concurrent analysis of circulating SCFAs, MCFAs, and LCFAs in different gastrointestinal diseases. Furthermore, and notably, we suggest for the first time that butyric acid could represent a potential biomarker for CD screening.

In this study Next-Generation Sequencing (NGS) was used to analyze and compare human microbiota from three different compartments, i.e., saliva, feces, and cancer tissue (CT), of a selected cohort of 10 Italian patients with colorectal cancer (CRC) vs. 10 healthy controls (saliva and feces). Furthermore, the Fusobacterium nucleatum abundance in the same body site was investigated through real-time quantitative polymerase chain reaction (qPCR) to assess the association with CRC. Differences in bacterial composition, F. nucleatum abundance in healthy controls vs. CRC patients, and the association of F. nucleatum with clinical parameters were observed. Taxonomic analysis based on 16S rRNA gene, revealed the presence of three main bacterial phyla, which includes about 80% of reads: Firmicutes (39.18%), Bacteroidetes (30.36%), and Proteobacteria (10.65%). The results highlighted the presence of different bacterial compositions; in particular, the fecal samples of CRC patients seemed to be enriched with Bacteroidetes, whereas in the fecal samples of healthy controls Firmicutes were one of the major phyla detected though these differences were not statistically significant. The CT samples showed the highest alpha diversity values. These results emphasize a different taxonomic composition of feces from CRC compared to healthy controls. Despite the low number of samples included in the study, these results suggest the importance of microbiota in the CRC progression and could pave the way to the development of therapeutic interventions and novel microbial-related diagnostic tools in CRC patients.

The aim of the study was to establish 24 month changes in upper limb function using a revised version of the performance of upper limb test (PUL 2.0) in a large cohort of ambulant and non-ambulant boys with Duchenne muscular dystrophy and to identify possible trajectories of progression. Of the 187 patients studied, 87 were ambulant (age range: 7-15.8 years), and 90 non-ambulant (age range: 9.08-24.78). The total scores changed significantly over time (p

Background With conventional enzyme replacement therapy (ERT), the clinical prognosis of classic Pompe disease is often unsatisfactory. About half the patients treated with ERT at the recommended dosage (20 mg/kg every other week) require ventilatory support within the first years of life. The heterogeneous response to ERT has been related to different factors, including cross-reactive immunologic material (CRIM) status and age at ERT initiation. Early treatment with a standard dosage of ERT improves clinical outcome and avoids mechanical ventilation in CRIM-positive patients detected at newborn screening, not preventing persistent hyperCKemia and muscle weakness. Later treatment with higher dosages of ERT was shown to provide similar benefits in CRIM-positive patients. Here, we report the clinical and biochemical outcomes of six patients with classic Pompe disease treated with different dosages of alglucosidase alpha at different ages. Methods A standard dosage of ERT was employed in five patients, sharing a poor prognosis after transient clinical improvements, even in the case of early treatment (four died at 22.2±11.9 months and one survived but required tracheostomy and gastrostomy). Early higher dosage of alglucosidase alpha (40 mg/kg/week from 14 days) was administered to one CRIM-positive patient with fetal persistent bradycardia. Results Early higher dosage of alclucosidase alpha not only achieved normal neuromotor development but also the full correction of biochemical markers of muscle damage until 3 years of age, an unmet target with the standard dosage. Speech delay was not prevented by this approach. Conclusions We suggest that early treatment with a higher dosage of ERT may further improve clinical prognosis in classic Pompe disease.

The present study assessed the association among risk and resilience factors (hopelessness, depression, subjective happiness) that contribute to suicidal behaviors in Italian youth. The sample consisted of 253 Italian high school adolescents (mean age = 18.09, SD = 0.57; 137 males; 116 females) who were administered a demographic questionnaire, the Suicide History Self-Rating Screening Scale, the Beck Depression Inventory II, the Beck Hopelessness Scale, the Attitude Toward Self-Revised Scale, and the Subjective Happiness Scale. Depressive symptoms were positively associated with cognitive vulnerabilities (trait-like tendencies to interpret information in a negative and distorted way when encountering a perceived stressful event) and negatively associated with subjective happiness. Participants with an elevated suicide risk also reported increased depressive symptoms, more cognitive vulnerabilities, and less subjective happiness. Moreover, depressive symptoms significantly mediated the relation between subjective happiness and suicide risk. The findings suggest that in order to prevent suicidal behavior in adolescents, clinicians should consider both risk and protective factors, particularly those that strengthen competencies and build self-esteem. Schools should employ a more positive approach that promotes resilience and enhances protective factors to reduce depressive symptoms and suicidality among youth.

Background Increasing evidence supports that mentalization deficits may have a role in the genesis of young age depression; however, few studies examined this issue in clinical populations. Methods Outpatients aged 14–21, suffering from various psychiatric disorders, were assessed using the Mentalization Questionnaire (MZQ), the Beck Depression Inventory (BDI), and the Childhood Trauma Questionnaire (CTQ), using data from age-matched healthy students for comparison. The relationship between CTQ, MZQ, and BDI scores was examined at the cross-sectional level, including mediation analyses, and longitudinally, in a subsample who underwent a psychotherapy intervention. Results Of 83 subjects, 33 (39.8%) had mentalization levels that were 1 standard deviation below those of comparison subjects. In the whole sample, the levels of mentalization were inversely associated with BDI (r = −.68, p

Epilepsy is the most common comorbidity in patients with brain tumors. Study Aims: To define characteristics of brain tumor-related epilepsy (BTRE) patients and identify patterns of care. Nationwide, multicenter retrospective cohort study. Medical records of BTRE patients seen from 1/1/2010 to 12/31/2011, followed for at least one month were examined. Information included age, sex, tumor type/treatments, epilepsy characteristics, antiepileptic drugs (AEDs). Time to modify first AED due to inefficacy and/or toxicity was assessed with the Kaplan-Meier method and Cox proportional hazard models were used to identify predictors of treatment outcome. Enrolled were 808 patients (447 men, 361 women) from 26 epilepsy centers. Follow-up ranged 1 to 423 months (median 18 months). 732 patients underwent surgery, 483 chemotherapy (CT), 508 radiotherapy. All patients were treated with AEDs. Levetiracetam was the most common drug. 377 patients (46.7%) were still on first drug at end of follow-up, 338 (41.8%) needed treatment modifications (uncontrolled seizures, 229; side effects, 101; poor compliance, 22). Treatment discontinuation for lack of efficacy was associated with younger age, chemotherapy, and center with 20 cases. About one-half of patients with BTRE were on first AED at end of follow-up. Levetiracetam was the most common drug. A non enzyme-inducing AED was followed by a lower risk of drug discontinuation for SE.

First-line nilotinib in chronic myeloid leukemia is more effective than imatinib to achieve early and deep molecular responses, despite poor tolerability or failure observed in one-third of patients. The toxicity and efficacy of tyrosine kinase inhibitors might depend on the activity of transmembrane transporters. However, the impact of transporters genes polymorphisms in nilotinib setting is still debated. We investigated the possible correlation between single nucleotide polymorphisms of hOCT1 (rs683369 [c.480C>G]) and ABCB1 (rs1128503 [c.1236C>T], rs2032582 [c.2677G>T/A], rs1045642 [c.3435C>T]) and nilotinib efficacy and toxicity in a cohort of 78 patients affected by chronic myeloid leukemia in the context of current clinical practice. The early molecular response was achieved by 81% of patients while 64% of them attained deep molecular response (median time, 26 months). The 36-month event-free survival was 86%, whereas 58% of patients experienced toxicities. Interestingly, hOCT1 and ABCB1 polymorphisms alone or in combination did not influence event-free survival or the adverse events rate. Therefore, in contrast to data obtained in patients treated with imatinib, hOCT1 and ABCB1 polymorphisms do not impact on nilotinib efficacy or toxicity. This could be relevant in the choice of the first-line therapy: patients with polymorphisms that negatively condition imatinib efficacy might thus receive nilotinib as first-line therapy.

In the current cross-sectional study, we aimed to investigate the presence and severity of "male" depressive symptoms and suicidal behaviors in psychiatric patients with and without a history of child abuse and neglect, as measured by the Childhood Trauma Questionnaire (CTQ), as well as to explore the associations among childhood maltreatment, "male depression" and suicide risk. The sample consisted of 163 consecutively admitted adult inpatients (80 men; 83 women). The patients were administered the CTQ, Gotland Male Depression Scale (GMDS), and Suicidal History Self-Rating Screening Scale (SHSS). Those with a moderate-severe childhood maltreatment history were more likely to be female (p0.05) and reported more "male depression" (p0.001) and suicidal behaviors (p0.01) as compared to those not having or having a minimal history of child abuse and neglect. In the multivariate analysis, only the minimization/denial scale of the CTQ (odds ratio=0.31; p0.001) and "male depression" (odds ratio=1.83; p0.05) were independently associated with moderate/severe history of child maltreatment. The findings suggest that exposure to abuse and neglect as a child may increase the risk of subsequent symptoms of "male depression", which has been associated with higher suicidal risk.

Objective Individuals with bipolar disorder (BD) usually report significant disability and psychosocial impairment. Both the nature and causes associated with this impairment are poorly understood. In particular, research examining the impact of pharmacotherapy on the different aspects of psychosocial functioning in bipolar patients is currently lacking. The aim of this study was to assess to what extent the psychotropic medications used during psychiatric hospitalization and at discharge can predict clinical psychosocial functioning and the severity of the illness at follow-up in inpatients with bipolar disorder (BD). Methods Patients were 71 adult BD patients contacted on average 31 months after discharge who completed at the follow-up a telephone interview based on the Health of the Nation Outcome Scales (HoNOS). Results All the subjects completed the follow-up assessment between 5 and 75 months after discharge. The mean raw score for the HoNOS-6 was 5.70 ± 5.37. Patients with more severe behavior problems more often had been prescribed atypical antipsychotics and anticonvulsants at discharge. Patients with more severe psychosocial functioning problems more often had a history of suicide attempts, and were more often prescribed anxiolytics during hospitalization and less often prescribed lithium at discharge. Conclusions Having been prescribed anxiolytics and atypical antipsychotics during hospitalization predicted reduced psychosocial functioning, whereas prescription of lithium at discharge was associated with better psychosocial functioning at follow-up. Future studies are needed in order to investigate how psychosocial functioning may be related in the long-term to pharmacological treatment in patients after discharge. Copyright © 2014 John Wiley & Sons, Ltd.

Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes (TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1) have been associated with an AGS phenotype. Next Generation Sequencing (NGS) analysis was performed on 51 AGS patients and interferon signature (IS) was investigated in 18 AGS patients and 31 healthy controls. NGS identified mutations in 48 of 51 subjects, with three patients demonstrating a typical AGS phenotype but not carrying mutations in known AGS-related genes. Five mutations, in RNASEH2B, SAMHD1 and IFIH1 gene, were not previously reported. Eleven patients were positive and seven negatives for the upregulation of interferon signaling (IS > 2.216). This work presents, for the first time, the genetic data of an Italian cohort of AGS patients, with a higher percentage of mutations in RNASEH2B and a lower frequency of mutations in TREX1 than those seen in international series. RNASEH2B mutated patients showed a prevalence of negative IS consistent with data reported in the literature. We also identified five novel pathogenic mutations that warrant further functional investigation. Exome/genome sequencing will be performed in future studies in patients without a mutation in AGS-related genes.

International audience; The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A). We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level. As expected given the critical role of CHT for multisystemic cholinergic neurotransmission, autonomic dysfunctions were reported in the antenatal form and cognitive impairment was noticed in half of the persons with the neonatal form. The missense mutations induced a near complete loss of function of CHT activity in cell models. At the human NMJ, a delay in synaptic maturation and an altered maintenance were observed in the antenatal and neonatal forms, respectively. Increased synaptic expression of butyrylcholinesterase was also observed, exposing the dysfunction of cholinergic metabolism when CHT is deficient in vivo. This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse.

Early adverse experiences are associated with neurobiological changes and these may underlie the increased risk of psychopathology. The Childhood Trauma Questionnaire (CTQ-SF) is the most commonly used instrument for assessing childhood maltreatment. Thus, the aim of our study was to investigate the factorial validity of an Italian version of the CTQ-SF in a sample of psychiatric inpatients by means of confirmatory and exploratory factor analyses. The sample was composed of 471 psychiatric in-patients and out-patients (206 males and 265 females) aged 16-80 years (mean age=34.4 years [SD=16.3]) consecutively admitted to two psychiatric departments. All patients were administered the Italian version of the CTQ-SF. We tested five different factor models which lacked good fit, while the exploratory factor analysis supported the adequacy of a solution with three factors (Emotional Neglect/Abuse, Sexual Abuse, Physical Neglect/Abuse). The three factors had satisfactory internal consistency (ordinal Cronbach alphas >0.90). Our study supports results from previous research indicating the lack of structural invariance of the CTQ-SF in cross-cultural adaptations of the test, and the fact that, when measuring different types of childhood maltreatment, the difference between abuse and neglect may be not valid.

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease with an average survival of 4-6 months following diagnosis. Surgical resection is the only treatment with curative intent, but resectable PDAC patients are in the minority. Also, unlike other neoplasms, PDAC is resistant to conventional and targeted chemotherapy. Innovative treatments, such as immunotherapy, can be very important and the study of the immune response is fundamental. We previously demonstrated that PDAC patients show tumor-infiltrating T cells specific to α-enolase (ENO1), a glycolytic enzyme over-expressed by pancreatic tumor cells, which plays an important role in promoting cell migration and cancer metastasis. In the present study, we evaluate the functional anticancer proprieties of ENO1-specific T cells isolated from the peripheral blood of PDAC patients. Furthermore, comparing the T cell receptor repertoire of ENO1-specific peripheral and infiltrating tumor T cells from the same patient suggests that ENO1-specific T cells, despite having a different functional profile, can recirculate from the tumor to the periphery. Finally, of clinical relevance, the presence of peripheral ENO1-specific T cells has a prognostic value and significantly correlates with a longer survival.

no abstract available

Objective Medication-overuse headache is often comorbid with emotional disturbances and disordered personality traits. The aim of the present study was to determine whether depression and insomnia complaints were associated with satisfaction and enjoyment with one’s own life in medication-overuse headache patients, and whether insomnia complaints were able to explain part of the variance of Quality of Life explained by depression. Methods Participants were 187 consecutive adult outpatients admitted to the Regional Referral Headache Centre of the Sant’Andrea Hospital in Rome, Italy. Patients were administered the Quality of Life Enjoyment and Satisfaction Questionnaire, the Beck Depression Inventory – II, and the Athens Insomnia Scale. Results The Beck Depression Inventory was associated with all the dimensions of the Quality of Life Enjoyment and Satisfaction Questionnaire, with more severe depression being associated independently with lower satisfaction and enjoyment with one’s own life. The Athens Insomnia Scale was independently and significantly associated only with physical health, such that patients with more insomnia complaints were 3.1 times ( p Conclusions Our findings confirmed that medication-overuse headache patients has a negative impact on quality of life and suggested that depression and insomnia were independently associated with satisfaction and enjoyment of life in medication-overuse headache patients. The early recognition and appropriate treatment of comorbid psychopathological symptoms are crucial to improve satisfaction and enjoyment of life in medication-overuse headache patients.

Carbon monoxide (CO) intoxication is one of the main causes of poisoning in industrialized countries and it often leads to diagnostic errors, because of its presenting symptoms, extremely aspecific and confounding. We describe the case of a previously healthy 4-months-old infant, who presented with an abrupt loss of acquired developmental achievements. Many confounding elements brought to an initial misdiagnosis and consequently an absence of appropriate and timely therapy. Neuroradiological and clinical evolution were subsequently fundamental in ascertaining CO intoxication. We report clinical and MRI follow up at six months from onset, underlying a severe developmental delay, in spite of a complete normalization of MRI scan. We provide an overview on published literature on the topic, which further reminds that in front of an acute onset of neurological symptoms CO intoxication should be always taken into account.

Hematopoietic stem cell transplantation is a therapeutic strategy for several oncohematological diseases. It increases survival rates but leads to a high incidence of related effects. The objective of this paper was to examine the existing literature on physical exercise interventions among pediatric HSCT recipients to explore the most often utilized rehabilitative assessment and treatment tools. Studies published from 2002 to April 1, 2015 were selected: 10 studies were included. A previous literary review has shown that rehabilitation programs have a positive impact on quality of life. Our analysis identified some significant outcome variables and shared intervention areas.

Background Medication-overuse headache (MOH) is often comorbid with emotional disturbances, contributing to poorer outcomes. The aims of the present study were to assess the psychometric properties of the Stagnation Scale in a sample of MOH patients, and to compare two factor models: a three-factor model reported in previous studies and a proposed bi-factor model. Methods Consecutive adult outpatients (N = 310) admitted to the Regional Referral Headache Centre of the Sant’Andrea Hospital in Rome (Italy) were administered the Stagnation Scale and two questionnaires measuring depression and perceived disability. Results The original three-factor model demonstrated an adequate fit to the data (χ 2 101 = 238.70; p χ 2 88 = 161.43; p Conclusions There is support for the use of the Stagnation Scale in MOH patients, with the goal of better understanding the role of psychological factors in the evolution and course of the disorder.

Background Mood disorders (MD) are disabling conditions throughout the world associated with significant psychosocial impairment. Affective temperaments, as well as hopelessness, may play a significant role in the pathophysiology of MD. The present study was designed to characterize patients with MD for their prevalent affective temperament and level of hopelessness. Methods Five hundred fifty-nine (253 men and 306 women) consecutive adult inpatients were assessed using the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-Autoquestionnaire version (TEMPS-A), the Gotland Scale for Male Depression (GSMD), the Beck Hopelessness Scale (BHS) and the Mini International Neuropsychiatric Interview (MINI). Results Higher cyclothymia and irritable temperaments were found in bipolar disorder-I (BD-I) patients compared to those with other Axis I diagnoses. Major depressive disorder (MDD) patients had lower hyperthymia than BD-I and BD-II patients and higher anxiety than patients with other Axis I diagnoses. Severe “male” depression was more common in BD-II patients compared to BD-I and MDD patients. BD-I patients and those with other axis I diagnoses reported lower BHS ≥9 scores than those with BD-II and MDD. Limitations The study had the limitations of all naturalistic designs, that is, potentially relevant variables were not addressed. Furthermore, the cross-sectional nature of the study did not allow conclusions about causation, and the use of self-report measures could be potentially biased by social desirability. Conclusion MDD patients were more likely to have higher anxious temperament, higher hopelessness and lower hyperthymic temperament scores, while BD-I patients more often had cyclothymic and irritable temperaments than patients with other Axis I diagnoses. The implications of the present results were discussed.

Research has demonstrated that patients with insomnia are at an increased risk of experiencing suicidal ideation and/or making a suicide attempt.To evaluate the relation between insomnia and suicidal behaviour.To examine factors associated with a diagnosis of insomnia in patients admitted to an Emergency Department (ED) and assessed by the psychiatrist in charge.Participants were 843 patients consecutively admitted to the ED of Sant'Andrea Hospital in Rome, between January 2010 and December 2011. All patients admitted were referred to a psychiatrist. A clinical interview based on the Mini International Neuropsychiatric Interview (MINI) and a semi-structured interview was conducted. Patients were asked about 'ongoing' suicidal ideation or plans for suicide.Forty-eight percent of patients received a diagnosis of bipolar disorder (BD), major depressive disorder (MDD) or an anxiety disorder; whereas, 17.1% were diagnosed with Schizophrenia or other non-affective psychosis. Patients with insomnia (compared to patients without insomnia) more frequently had a diagnosis of BD (23.9% vs. 12.4%) or MDD (13.3% vs. 9.5%; p 0.001). Moreover, patients with insomnia less frequently had attempted suicide in the past 24 h (5.3% vs. 9.5%; p 0.05) as compared with other patients, but those patients with insomnia who attempted suicide more frequently used a violent method (64.3% vs. 23.6%; p 0.01) compared to other suicide attempters.Our results do not support an association between insomnia and suicidal behaviour. However, suicide attempters with insomnia more frequently used violent methods, and this phenomenon should be taken into serious consideration by clinicians.

Context: It is estimated that approximately one in four people know someone who has taken their own life and that one suicide death leaves six or more suicide survivors. Aims: The aim of this paper was to review the literature regarding the association between suicide and bereavement, focusing also on the supportive and therapeutic resources available for survivors. Materials and Methods: Careful MedLine and PsycINFO searches for the period 1980-2013. Results: The review of the literature indicates that emotional turmoil in suicide survivors may last a long time and, in some cases, may end with their own suicide. Conclusion: Future research should evaluate the efficacy of professional treatments and of support groups targeting suicide survivors. Practice Implications: It is crucial to understand the bereavement process after the suicide of a significant other in order to provide proper care, reduce stigma, and improve the outcomes of related psychiatric conditions.

The aim of the present study was to assess the factor structure of the Italian version of the Beck Hopelessness Scale (BHS) in a large sample of patients with medical conditions, comparing four different models proposed previously in the literature. Participants were 514 Italian adult patients with diagnoses of chronic daily headache, type 1 (insulin-dependent) or type 2 diabetes mellitus, epilepsy, open-angle glaucoma, human immunodeficiency virus infection, and women admitted for childbirth to a Department of Fetal–Maternal Medicine. All the patients were administered the BHS during routine visits. Confirmatory factor analyses were used to compare four models using several fit indices. The one-construct two-method model (i.e., the BHS measures one substantive hopelessness construct plus artifacts due to negative–positive item polarity) had the best fit indices and was more parsimonious than other models. The BHS seems to be a unidimensional measure of hopelessness, although there may be artifacts due to item polarity (i.e., positively and negatively worded items). Hopelessness scores differed in patients with particular medical diseases, with higher scores in conditions such as chronic daily headache and diabetes, and lower scores in patients positive for the human immunodeficiency virus (HIV), and with open-angle glaucoma or epilepsy.

The prediction of neurologic outcome in comatose patients after cardiac arrest (CA) has been investigated and the findings were summarized in a practice parameter of the American Academy of Neurology (1). These guidelines did not include the EEG as a reliable outcome indicator but recent studies on continuous EEG recorded during TH have re-evaluated the role of EEG (2–4). These studies underline the utility of a simplified classification system of EEG patterns and point to which pattern attains reliable predictive value both for good and bad outcomes. These reports are of high clinical relevance because, until today, the possibility of identifying early prognostic indicators of good outcome in patients surviving to CA has not been investigated. At the best of our knowledge, only few multicentre prospective studies (4–6) analyzed the prognostic value of EEG and SEP recorded in the same patient after CA as single predictor but none analyzed the diagnostic accuracy of the association of these two tests. We present the study protocol of Italian Multicentre Study about prognostic value of EEG and SEP in comatose patients after CA (ProNeCA) proposed by study group of “Intraoperative and Intensive Care Clinical Neurophysiology” of the Italian Society of Clinical Neurophysiology.

Introduction The Lifeline Talk With Us was founded by Suicide Prevention Center, Sant'Andrea Hospital, Sapienza University of Rome, Italy, to provide free and confidential emotional support to people in suicidal crisis. Objective in this study we evaluated the socio-demographic profile of individuals who used the helpline and their intent to die at the end of the call. Aim to investigate the possible gender differences of the callers on the suicide risk factors. Method using a standardized form, we assessed suicide risk in a sample of 285 callers (144 females) focusing on suicidal desire, suicidal capability, and suicidal intent. Results The mean age of our sample was 41,55 sd.15,54; the 51% of the callers were females. The differences on suicide risk factors between males and females were the following: males referred loneliness, loss of significant relationship, and economic problems; females reported loss of a significant loved one by suicide and mental or physical illness. Suicide attempts were reported by 54% of callers, whereas 80% of them referred suicidal ideation. Males reported higher number of attempts suicide and suicidal ideation than females. The 39% of our sample called the Help-line after loss of a significant loved one by suicide. Conclusion This study shows the importance to provide an accessible volunteer service for people at risk of suicide. Many of the callers were supported to contact local mental health services. Improving the quality of the exiting services, and promoting awareness that suicide prevention is highly recommended.

Introduction Psoriasis has a significant impact on the mental and emotional functioning. It has been shown that the risk of psychiatric comorbidity as well as suicide risk increases with the severity of the disease. Objectives To analyze the association between psoriasis, mental disorders and suicidal ideation in a sample of patients affected by psoriasis. Aims To analyze the differences between patients affected by psoriasis and patients with other dermatologic diseases. Methods we enrolled 157 consecutive patients (90 women and 67 men), mean age 50,15 years (±16,21); 91 affected by psoriasis (58.0 %), 35 by melanoma (22.3 %) and 31 with atopic dermatitis (19.7%). All participants completed a structured sociodemographic interview. We also administered the following rating scale: Hamilton Rating Scale for Depression (HAM- D) and the Hamilton Rating Scale for Anxiety (HAM -A). We assessed current and prior suicidal ideation and the number of previous suicide attempts. Results Patients with psoriasis, more frequently had a comorbid psychiatric disorder (38.5% vs 16.7 %, p Conclusions The clinical evaluation of patients with psoriasis should include the assessment of psychiatric comorbidities and the routine assessment of suicide risk.

Introduction The Lifeline’Talk With Us’ was founded in 2008 by Suicide Prevention Center, Sant’Andrea Hospital, Sapienza University of Rome, Italy, to provide free and confidential emotional support to people in suicidal crisis. Objective In this study we evaluated the socio demographic profile of individuals who used the helpline during last year (2012–2013) and caller's intent to die at the end of the call. Aim To investigate suicide risk factors among the callers and the association with the socio-economic status. Method Using a standardized form, we assessed suicide risk in a sample of 228 callers (120 female) focusing on Suicidal Desire, Suicidal Capability, Suicidal Intent. Results The mean age of our sample was 41±14,8; most callers (52%) were female from north and central of Italy. Suicide risk factors in our sample were the following: feeling alone, loss of a significant relationship, economic problems, loss of a significant loved one by suicide. Suicide attempts were reported by 27% of participants whereas 16,8% of them referred suicidal ideation. Unemployment was found in 22% of the callers whereas 42% of them referred suicide attempts, and 25% suicidal ideation. Conclusion This study shows the importance to provide an accessible volunteer service for people who are in crisis, present suicidal ideation or reported prior suicide attempts. In particular, our service was very important for those who were in economic crisis, as demonstrated by our data. Improving the quality of the existing services, and promoting awareness that suicide prevention is possible are highly recommended.

Background Mood disorders (MD) are disabling conditions throughout the world associated with significant psychosocial impairment. Affective temperaments, as well as hopelessness, may play a significant role in the pathophysiology of MD. The present study was designed to characterize patients with MD for their prevalent affective temperament and level of hopelessness. Methods 559 consecutive adult inpatients were assessed using the Temperament Evaluation of Memphis, Pisa, Paris and San Diego- Autoquestionnaire version (TEMPS-A), the Gotland Scale for Male Depression (GSMD), the Beck Hopelessness Scale (BHS) and the Mini International Neuropsychiatric Interview (MINI). Results Higher cyclothymia (27.7% vs. 20.0%, Conclusion MDD patients were more likely to have anxious prevalent temperament, higher hopelessness and lower hypethimic temperament while BD-I patients had more frequently cyclothymic and irritable temperaments than patients with other Axis I diagnoses. The implications of the present results were discussed.