Search

Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD.

Under certain conditions, the hyperthymic temperament traits associated with an increased risk of developing bipolar disorders may in fact produce adaptive responses. The purpose of this study is to see if the type of biological material used for genetic analysis (saliva or blood) affects the detection of mutations in the CACNA1C (RS1006737) gene. The first experimental group consisted of Sardinian migrants (“volunteers”) in South American and European megacities. The second experimental group consisted of older healthy subjects with hyperactivity and novelty-seeking characteristics from Cagliari, Italy. The genetic procedure included DNA extraction, real-time PCR, and the Sanger method. Nonetheless, the authors believe that saliva is the most appropriate biological material, given its many advantages. In contrast to blood, saliva can be collected by any type of healthcare provider after following a few simple instructions.

Background: An important aspect of managing chronic disorders like bipolar disorder is to have access to relevant health information. This study investigates and compares the quality of information on the treatments of bipolar disorder that is available on English websites, as an international language, and on Italian websites, as a popular local language. Methods: A systematic review search was obtained from four search engines. We excluded unrelated materials, scientific papers, and duplicates. We analyzed popularity with PageRank; technological quality with Nibbler; readability with the Flesh Reading Ease test and Gulpease index; quality of information with the DISCERN scale, the JAMA benchmark criteria, and on the extent of adherence to the HONCode. Results: 35 English and 31 Italian websites were included. The English websites were found to have a higher level of quality information and technological quality than the Italian ones. Overall, the websites were found to be difficult to read, requiring a high level of education. Conclusions: These results can be important to inform guidelines for the improvement of health information and help users to reach a higher level of evidence on the websites. Users should find the benefits of treatment, support for shared decision-making, the sources used, the medical editor’s supervision, and the risk of postponing treatment.

Background: The use of bibliometric analysis to assess scientific productivity and impact is particularly relevant for EU funding programs. The objective of the present study is to assess the impact on scientific literature by focusing specifically on the cost-effectiveness of FP7 and NHI projects in the fields of AA and QoL, respectively. Methods: Twenty projects were randomly selected from the CORDIS database in accordance with the following criteria: funded by the FP7; accepted from 1st January 2007 to 31st December 2012; concluded by 31st August 2017; For each project selected, we determined: number of publications in Scopus and Google databases attributable to the project; number of papers published in Q1 quartile of the SCIMAGO rank; number of citations found in Scopus and Scholar Google; amount of funds allocated. Results: The study has confirmed the results of the previous one, namely that the number of publications and the number of citations per project on active ageing are similar in projects funded by the NHI in the United States and those funded by the FP7 in Europe. However, when it comes to cost-effectiveness, it results that European projects have a cost ten times higher than the Americans ones. Conclusion: Our study shows lower cost-effectiveness of FP7-European projects than the American-NIH on active aging. The results of this research, albeit with the limits already outlined, will have to be taken into consideration in the evaluative research of the future.

Asthma is the most common chronic disease in childhood. The pathogenesis of asthma is multifactorial and is thought to include environmental factors interacting with genetics during pregnancy and in the first years of life. In the last decades, a possible role of gut microbiota in allergic disease pathogenesis has been demonstrated. Next generation sequencing techniques have allowed the identification of a distinct microbiome in the healthy lungs. The lung microbiome is characterized by the prevalence of bacteria belonging to the phylum Bacteroidetes (mostly Prevotella and Veilonella spp) in healthy subjects and to the phylum Proteobacteria in asthmatics (mostly Haemophilus, Moraxella, and Neisseria spp). In asthma, as well as in other diseases, the lung microbiome composition changes due to a disruption of the delicate balance between immigration and elimination of bacteria. The lung microbiome can interact with the immune system, thus influencing inflammation. Early infections with viruses, such as respiratory syncytial virus, may alter lung microbiome composition favoring the emergence of Proteobacteria, a phylum which is also linked to severity of asthma and bronchial hyperreactivity. Lastly, antibiotics may alter the gut and lung microbiota and potentially disturb the relationship between microbiota and host. Therefore, antibiotics should be prescribed with increasing awareness of their potential harmful effect on the microbiota in young children with and without asthma. The potential effects of probiotics and prebiotics on lung microbiome are unknown.

Resume Introduction Nous nous sommes propose de discuter l’eventuel caractere adaptatif des symptomes thymiques reconnus comme pathologiques attenues, dans des contextes evolutifs. Methodologie Nous nous sommes bases sur l’analyse : (1) de l’histoire de l’evolution des symptomes de la depression face a de grands changements sociaux ; (2) du profil thymique des emigrants de la Sardaigne vers differentes metropoles. Resultats et conclusions L’augmentation epidemique de la frequence des troubles de l’humeur, depuis la « maladie anglaise », laisse supposer qu’au moins les formes « legeres » auraient un avantage adaptatif. Sinon, l’expansion des troubles aurait ete autolimitee. D’un point de vue sociobiologique, deux hypotheses soutiennent notre postulat. La premiere est la selection de la societe en phase d’evolution rapide des personnes aux capacites exploratoires developpees et capables de supporter des rythmes biologiques acceleres. La deuxieme est que le changement social stimule le changement psychologique et psychopathologique. Ainsi, il serait plausible que les personnes hyperactives puissent moduler et creer le nouvel environnement. Si ce modele peut expliquer l’epidemie des troubles de l’humeur, sa verification devrait orienter les futures recherches.

In primary ciliary dyskinesia (PCD) patients, Pseudomonas aeruginosa is a major opportunistic pathogen, frequently involved in chronic infections of the lower airways. Infections by this bacterial species correlates with a worsening clinical prognosis and recalcitrance to currently available therapeutics. The antimicrobial peptide, lin-SB056-1, in combination with the cation chelator ethylenediaminetetraacetic acid (EDTA), was previously demonstrated to be bactericidal against P. aeruginosa in an artificial sputum medium. The purpose of this study was to validate the anti-P. aeruginosa activity of such a combination in PCD sputum and to evaluate the in vitro anti-virulence effects of EDTA. In combination with EDTA, lin-SB056-1 was able to significantly reduce the load of endogenous P. aeruginosa ex vivo in the sputum of PCD patients. In addition, EDTA markedly reduced the production of relevant bacterial virulence factors (e.g., pyocyanin, proteases, LasA) in vitro by two representative mucoid strains of P. aeruginosa isolated from the sputum of PCD patients. These results indicate that the lin-SB056-1/EDTA combination may exert a dual antimicrobial and anti-virulence action against P. aeruginosa, suggesting a therapeutic potential against chronic airway infections sustained by this bacterium.

Background:The perception by mental health service staff of respect for users' rights is a fundamental component of organizational well-being. The objective of this work is to examine how cultural differences and the working context can influence the perception of respect for users' rights in mental health professionals in the Mediterranean area.Methods:An observational survey carried out in four different mental health networks in four countries of the Mediterranean area (Tunisia, North-Macedonia, Italy, Palestine). Each invited participant fulfilled a format on socio-demographic information and coded the Well-Being at Work and Respect Right Questionnaire (WWRR). All data were encrypted and analysed using the Statistical Package for Social Sciences (SPSS) version 20. The Games-Howell post-hoc test was used to assess differences between countries. The Games-Howell test does not assume equal variances and sample sizes. Eta-squared (η2) was used as a measure of effect size in the ANOVA (η2around 0.01, 0.06, and 0.14 are considered small, medium, and large, respectively).Results:The sample included 590 professionals working in the mental health field. The four countries showed statistically significant differences with regards to the quality rights assessment tool. Participants from Italy reported, on average, the highest scores across the questions. There were also differences across the countries about the perception of the impact of available resources on the effectiveness of care (η2 = 0.106).Conclusion:Our findings offer a useful insight into the perception of the quality of mental health services, especially from a users’ rights point of view.

Background: The Well-Being at Work and Respect for human Rights Questionnaire (WWRR) was conceived based on the hypothesis that the perception of respect for users' rights is an essential element of well-being in the workplace in healthcare. The objective of the study is to examine the principal components of the WWRR. Methods: A random sample representative of a set of professionals working in three different healthcare networks in Tunisia, North-Macedonia, and Italy was enrolled (n=426). Each professional completed a questionnaire on sociodemographic data and the WWRR. The WWRR consists of six items on beliefs about: satisfaction at work, users’ satisfaction, organization at work, respect of users’ and staff human rights, adequacy of resources. A seventh item assesses the perceived needs of personnel. Correlation between the items was evaluated by analysing the principal components with Varimax rotation and Kaiser normalization (which included all components with an Eigen value> 1). Results: A single factor covered over 50% of the variance, all the items of the questionnaire were closely related and compose a single factor. Tunisia presented some differences regarding the item about the human rights of staff. Conclusion: Satisfaction with the respect for the rights of users is strongly correlated with the other factors that are part of the concept of the organizational well-being of health care providers. The WWRR provides a means of measuring this important and often neglected dimension.

In primary ciliary dyskinesia (PCD) patients, Pseudomonas aeruginosa is a major opportunistic pathogen, frequently involved in chronic infections of the lower airways. Infections by this bacterial species correlates with a worsening clinical prognosis and recalcitrance to currently available therapeutics. The antimicrobial peptide, lin-SB056-1, in combination with the cation chelator ethylenediaminetetraacetic acid (EDTA), was previously demonstrated to be bactericidal against P. aeruginosa in an artificial sputum medium. The purpose of this study was to validate the anti-P. aeruginosa activity of such a combination in PCD sputum and to evaluate the in vitro anti-virulence effects of EDTA. In combination with EDTA, lin-SB056-1 was able to significantly reduce the load of endogenous P. aeruginosa ex vivo in the sputum of PCD patients. In addition, EDTA markedly reduced the production of relevant bacterial virulence factors (e.g., pyocyanin, proteases, LasA) in vitro by two representative mucoid strains of P. aeruginosa isolated from the sputum of PCD patients. These results indicate that the lin-SB056-1/EDTA combination may exert a dual antimicrobial and anti-virulence action against P. aeruginosa, suggesting a therapeutic potential against chronic airway infections sustained by this bacterium.

Objective: To determine whether people with a Sardinian genetic background who live in the megacities of South America have a higher frequency of hypomania than residents of Sardinia. Methods: A community survey of Sardinian immigrants was carried out in four Brazilian metropoles (n=218) and Buenos Aires (n=306). The results were compared with those of a study involving a similar methodology (Mood Disorder Questionnaire [MDQ] as a screening tool) conducted in seven Italian regions, including a sub-sample from Sardinia. Results: There was a higher prevalence of lifetime hypomania among Sardinians living in the Brazilian metropoles than among those living in Sardinia. This result was also consistent with Sardinian immigrants in Buenos Aires. After stratification by sex and age, the lifetime prevalence of MDQ scores ≥ 8 among Sardinians in South-American megacities and Sardinia was 8.6% vs. 2.9%, respectively (p < 0.0001). Conclusions: The higher frequency of hypomania in migrant populations appears to favor an evolutionary view in which mood disorders may be a maladaptive aspect of a genetic background with adaptive characteristics.

Introduction: The study aimed to see if a community survey conducted by clinical interviewers with semi-structured psychiatric interviews shows lifetime prevalence rates of Specific Phobia (SP) similar to those found by surveys carried out by lay interviewers and if the high level of impairment found in SP may be confirmed. Methods: This is a community survey on an Italian nationwide sample randomly selected from registers of municipalities. Tools: semi-structured ANTAS psychiatric interview derived from the SCID-DSM-IV, carried out by clinicians (psychologists or physicians); Short Form Health Survey (SF-12) as a measure of Quality of Life (QoL). Analyses: means of the χ2 test odds ratios were adopted to test several associations regarding SP prevalence. One-way ANOVA was used to compare different groups on attributable burden due to SP and/or other disorders in worsening QoL. Results: The lifetime prevalence of SP was 2.3%. No difference was found by age class. Females showed more than twice the frequency of males (pp p = 0.809). Conclusion: An epidemiological study conducted by clinical interviewers through semi-structured interviews appears to re-dimension the impact of SP, at least from the public health perspective. Future prospective studies will better clarify the role of SP in the context of anxiety disorders.

Cilia have multiple functions including olfaction. We hypothesised that olfactory function could be impaired in primary ciliary dyskinesia (PCD). Olfaction, nasal nitric oxide (nNO) and sinus CT were assessed in patients with PCD and non-PCD sinus disease, and healthy controls (no CT scan). PCD and non-PCD patients had similar severity of sinus disease. Despite this, defective olfaction was more common in patients with PCD (P

Background: The aim is to measure the association between fibromyalgia syndrome (FMS) and post-traumatic stress disorder (PTSD), mood and anxiety disorders using reliable psychiatric diagnoses according to Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) and with a case–control design. Methods: Case–control study with cases (71 consecutive female patients with FMS) and controls (284 subjects without FMS), randomly drawn after a gender- and age-matching technique from the database of an epidemiological survey. Psychiatric diagnoses were conducted according to DSM-IV and carried out by clinical staff using a structured interview (Advanced Neuropsychiatric Tools and Assessment Schedule). QoL was measured by Short Form Health Survey (SF-12). Results: The lifetime prevalence of major depressive disorder (MDD; 43.7% vs 8.1%, p Conclusion: FMS is a disorder that ‘in itself’ can have a devastating impact on an individual’s life. The frequency of the association with major depressive and bipolar disorders increases the impact on the QoL of people with FMS. One of the causes of this association appears to be the extreme vulnerability to chronic stress that this disorder involves. The findings have important clinical significance: the physician must interpret in the right dimension and with dignity the suffering of the people with FMS.

Summary Background Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. Hypothesis MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). Methods We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2. Results The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2–3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2–3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings. Conclusions MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result. Pediatr Pulmonol. 2015; 50:179–186. © 2014 Wiley Periodicals, Inc.

Background The balance between matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) is important in the regulation of airway damage. Objective To evaluate whether they are important in the pathophysiology of primary and secondary ciliary dyskinesia (PCD, SCD). Methods We measured sputum bacteriology, lung CT changes, MMPs, TIMPs and lung function in 86 patients (51 PCD, 35 SCD) in a cross-sectional study; the 10 controls studied did not have HRCT or sputum cultures. MMPs, TIMPs and lung function were evaluated longitudinally for up to one year in 38 PCD patients. Results At baseline, there were no differences in MMPs, TIMPs and MMPs/TIMPs, between PCD and SCD but lower levels were found in controls. There was an association between poorer lung function with increasing levels of MMPs in PCD, while in SCD only MMP-9/TIMP-1 values correlated with FRC z-scores. Levels of MMPs and TIMPs significantly correlated with severity HRCT changes. Longitudinally, there were significant correlations between slope of changes in spirometric parameters and slope of change in sputum MMPs in PCD patients. Conclusions In conclusion, we report for the first time that increased MMPs are associated with worse airway damage in PCD and SCD, and thus are potential therapeutic targets.

Diagnosis of primary ciliary dyskinesia (PCD) sometimes requires repeated nasal brushing to exclude secondary ciliary alterations. Our aim was to evaluate whether the use of a new method of nasal epithelial cell culture can speed PCD diagnosis in doubtful cases and to identify which are the most informative parameters by means of a multilayer artificial neural network (ANN). A cross-sectional study was performed in patients with suspected PCD. All patients underwent nasal brushing for ciliary motion analysis, ultrastructural assessment and evaluation of ciliary function after ciliogenesis in culture by ANN. 151 subjects were studied. A diagnostic suspension cell culture was obtained in 117 nasal brushings. A diagnosis of PCD was made in 36 subjects (29 of whom were children). In nine out of the 36 patients the diagnosis was made only after a second brushing, because of equivocal results of both tests at first examination. In each of these subjects diagnosis of PCD was confirmed by cell culture results. Cell culture in suspension evaluated by means of ANN allows the separation of PCD from secondary ciliary dyskinesia patients after only 5 days of culture and allows diagnosis to be reached in doubtful cases, thus avoiding the necessity of a second sample.

Background Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder characterised by dysfunction of motile cilia. Ciliary dysmotility causes poor mucociliary clearance and leads to impairment of pulmonary function and severe respiratory infections. PCD has no specific therapy. With the aim to permanently restore gene function and normalise ciliary motility, we used gene editing to replace mutated with wild-type sequence in defective cells. Methods The target gene was dynein heavy chain 11 ( DNAH11 ), an essential component of ciliary structure. Airway ciliated cells were collected from two patients with PCD with DNAH11 nonsense mutations and altered ciliary beating and pattern. Repair of the genetic defect was performed ex vivo by site-specific recombination using transcription activator-like effector nucleases (TALENs). Results In an epithelial cell line engineered to contain the DNAH11 target site, TALENs cleaved over 80% of the mutated DNAH11 sequence and replaced the mutated sequence with wild-type sequence in about 50% of cells. In airway ciliated cells of patients with PCD, site-specific recombination and normalisation of ciliary beating and pattern occurred in 33% and 29% of cells, respectively. Conclusion This study demonstrates that gene editing can rescue ciliary beating ex vivo, opening up new avenues for treating PCD.

Aims Using data from a population survey in two communities in the region of Sardinia, Italy, we examined the association between illness definition and attribution of personal characteristics to people with alcoholism. Methods Quota samples, stratified by gender and age, were drawn from the general population (males: 48%; mean age 48 ± 18; range: 15–90). A fully-structured interview was conducted face-to-face with 404 respondents. The assessment of the public view of ‘alcoholics’ was measured by their reactions to stimulus words rated on bipolar scales, and defined with adjectives with opposite meanings at each end. Results 322 participants (80%) rated the ‘alcoholic’ as ‘ill’. The definition of the ‘alcoholic’ as being ill showed a statistically higher odd of stigma across all the dimensions of personal attributes. Conclusions The expectation that people adopting the illness model would tend to blame less those afflicted for their condition and, consequently, stigmatize them less, was not confirmed.

Primary ciliary dyskinesia (PCD) is a congenital, clinically and ultrastructurally heterogeneous disease due to abnormal structure and/or function of cilia, with impaired mucociliary transport leading to several respiratory disorders. PCD can be diagnosed by the combination of thorough clinical examination with functional and ultrastructural analysis of the cilia. This paper shows progresses in PCD diagnosis obtained by ciliogenesis in culture evaluation of ciliated respiratory cells and by genetic analysis of mutations in candidate genes. Moreover, since to date no specific treatments are available to correct the ciliary dysfunction, the paper shows the proper therapeutical approach by the use of respiratory physiotherapy and regular exercise to favour airways clearance, by antibiotics administration to control acute airway infections. Macrolides administration as antinflammatory option is suggested.

Objective.To investigate 25-OH vitamin D concentrations in 2 independent systemic sclerosis (SSc) populations from France and Italy.Methods.We studied 156 consecutive SSc patients comparable for demographic characteristics: 90 from Northern France and 66 from Southern Italy. 25-OH vitamin D, intact parathyroid hormone, and serum total calcium and phosphorus were measured in all patients. Vitamin D concentrations < 30 ng/ml were considered insufficiency, while values < 10 ng/ml were classified as deficiency.Results.Vitamin D insufficiency and deficiency rates were very high and comparable between the 2 populations: 74/90 (82%) versus 57/66 (86%) for insufficiency and 29/90 (32%) versus 15/66 (23%) for deficiency, respectively, in the French and Italian patients. They were not influenced by vitamin D supplementation, which was not statistically different in the 2 groups. In the combined populations, a significant negative correlation was found between low vitamin D levels and European Disease Activity Score (p = 0.04, r = −0.17) and an even more significant correlation was found with acute-phase reactants (p = 0.004, r = −0.23 for erythrocyte sedimentation rate), and low levels of vitamin D were associated with the systolic pulmonary artery pressure (sPAP) estimated by echocardiography (p = 0.004). In multivariate analysis, vitamin D deficiency was associated with sPAP (p = 0.02).Conclusion.Vitamin D deficiency was very common in the 2 SSc populations, independent of geographic origin and vitamin D supplementation. This suggests that common vitamin D supplementation does not correct the deficiency in SSc patients, and that a higher dose is probably needed, especially in those with high inflammatory activity or severe disease.

From the authors : We wish to thank M. Boon and co-workers for their careful reading of our manuscript and to apologise to them and the readers for our mistake in the preparation of table 2 of our original article [ …