Naming Genes for Dystonia: DYT-z or Ditzy?

Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization’s plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders

Fatal Clostridium perfringens Septicemia After Colonoscopic Polypectomy, Without Bowel Perforation

Since its introduction, colonoscopy has played an important role as a diagnostic, therapeutic, and screening tool. In general, colonoscopy is regarded as a safe procedure, but complications may occur. The most dreaded of these complications is colonic perforation. Bacteremia postprocedure may occur, and although it is not uncommon, it rarely results in clinically significant complications. Patients with IBD (inflammatory bowel disease) are a high-risk population for bacteremia, which may leads to bowel wall overstepping by the bacteria. With regard to that, we report a fatal case of gas gangrene complicating colonoscopy polypectomy without bowel perforation in a healthy adult. To the best of our knowledge, only two other cases of retroperitoneal gas gangrene associated with colonoscopy polypectomy without bowel perforation have been described in international literature, but none of which was completed by a molecular biology analysis

Cocirculation of Hajj and non-Hajj strains among serogroup W meningococci in Italy, 2000 to 2016

In Italy, B and C are the predominant serogroups among meningococci causing invasive diseases. Nevertheless, in the period from 2013 to 2016, an increase in serogroup W Neisseria meningitidis (MenW) was observed. This study intends to define the main characteristics of 63 MenW isolates responsible of invasive meningococcal disease (IMD) in Italy from 2000 to 2016. We performed whole genome sequencing on bacterial isolates or single gene sequencing on culturenegative samples to evaluate molecular heterogeneity. Our main finding was the cocirculation of the Hajj and the South American sublineages belonging to MenW/ clonal complex (cc)11, which gradually surpassed the MenW/cc22 in Italy. All MenW/cc11 isolates were fully susceptible to cefotaxime, ceftriaxone, ciprofloxacin, penicillin G and rifampicin. We identified the fulllength NadA protein variant 2/3, present in all the MenW/cc11. We also identified the fHbp variant 1, which we found exclusively in the MenW/cc11/Hajj sublineage. Concern about the epidemic potential of MenW/cc11 has increased worldwide since the year 2000. Continued surveillance, supported by genomic characterisation, allows high-resolution tracking of pathogen dissemination and the detection of epidemicassociated strains

Depression, obesity and their comorbidity during pregnancy : effects on the offspring's mental and physical health

Depression and obesity represent two of the most common complications during pregnancy and are associated with severe health risks for both the mother and the child. Although several studies have analysed the individual effects of depression or obesity on the mothers and their children, the effects associated with the co-occurrence of both disorders have so far been poorly investigated. The relationship between depression and obesity is very complex and it is still unclear whether maternal depression leads to obesity or vice versa. It is well known that the intrauterine environment plays an important role in mediating the effects of both depression and obesity in the mother on the fetal programming, increasing the child's risk to develop negative outcomes.Peer reviewe

Sexual behavior, use of contraceptive methods and risk factors for HPV infections of students living in Central Italy: implications for vaccination strategies

The most frequent risk factors related to the infection/persistence of HPV in the population are an early start of sexual activity, the number of sexual partners, smoking, and the utilization of some contraceptive methods. In Italy, HPV vaccine is offered free of charge to all 12 year-old female adolescents, with a possible extension to other age groups according to Regional policies. In order to value the suitability of the current HPV vaccination strategies in Italy, an epidemiological study on sexual habits in adolescents and young adults was organized. An anonymous questionnaire on sexual behavior and risk factors for HPV infection was administered to 2300 students aged 13-24 years attending secondary schools and universities in Tuscany during 2008-09. About 12% of the sample declared to be foreign citizen. The results highlight the early start of sexual activity among young students. Particularly, more than half of the interviewed students declared to be already sexually active. The mean and the median age of the first sexual intercourse was 15.4 ± 1.4 years and 15 years (25th and 75th percentiles = 14-16), respectively. More than 77% of students at age 16 years declared they already had the first sexual intercourse, compared with 0.3% of those inf. 12 years. Generally, females aged 13-16-years, if sexually active, had sexual contacts with a single partner. Most students declared to know common contraceptive methods (male condom and contraceptive pill). However, only half of them declared a regular use of male condom. These data confirm the importance of vaccination against HPV for young females before their sexual debut. In addition, the current multi-cohort strategy of HPV vaccination in Tuscany (free of charge in the age range 12-16 years) allows also to catch up those girls that have not yet had their first sexual experiences before 16 years (21.5% according to our study) but also to those girls already sexually active, who very rarely are already infected by all vaccine types at 16 years. Our results also show the importance of sexual health education and of promotion of correct behaviours in schools

The role of seasonality and photoperiod on the lethality of suicide attempts: A case-control study

Background: The risk factors related to suicidal behaviors are complex and not yet fully known. Several studies underline how suicide results from the combination of psycho-social, biological, cultural, and environmental factors. The aim of this study was to investigate the potential role of seasonality and photoperiod on high-lethality suicide attempts (HLSA) compared with low-lethality suicide attempts (LLSA) in a sample of psychiatric inpatients. Methods: After attempting suicide, subjects were admitted in the emergency/psychiatric ward of the IRCCS Ospedale Policlinico San Martino from 1st August 2013 to 31st July 2018. Socio-demographic and clinical characteristics were collected. Results: The sample consisted of four hundred thirty-two individuals admitted for suicide attempt. One hundred thirty-three subjects (30.8%) of the sample committed a HLSA. The HLSA group peaked in the months with a higher sunlight exposure (June and July). Bivariate correlation analyses between seasonality/photoperiod in the whole sample and HLSA were positively associated with summer and highest solar intensity period. Limitations: Data were limited to a single hospital, patients’ seasonal environment, meteorological variables and psychological factors. In addition, the presence of acute life-events fostering the suicidal crisis has not been investigated. Conclusions: The current study provides a novel perspective on the questions surrounding the impact of seasonality and daylight exposure on lethality of suicide attempts. further studies are needed to provide deeper understandings on the delicate molecular network that links suicide behaviors, seasonality and daylight in order to develop more effective prevention and treatment strategies in the future

Cardiovascular risk in patients with severe mental illness in Italy

Background: Patients with severe mental illness (SMI), such as schizophrenia or bipolar disorders, are more frequently affected by metabolic syndrome and cardiovascular (CV) diseases than the general population, with a significant reduction in life expectancy. Beyond metabolic syndrome, quantifying the risk of CV morbidity in the long-term may help clinicians to put in place preventive strategies. In this study, we assessed 10-year CV risk in patients with SMI and healthy individuals using an algorithm validated on the Italian general population. Methods: Patients aged 35-69 years diagnosed with SMI were consecutively recruited from psychiatric acute care units. Single CV risk factors were assessed, and 10-year CV risk calculated by means of the CUORE Project 10-year CV risk algorithm, based on the combination of the following risk factors: age, systolic blood pressure, total and high-density lipoprotein cholesterol, diabetes, smoking habit, and hypertensive treatment. Patients' data were compared with those from the general population. The 10-year CV risk was log-transformed, and multivariable linear regression was used to estimate mean ratios, adjusting for age, and education. Results: Three hundred patients and 3,052 controls were included in the analysis. Among men, the 10-year CV risk score was very similar between patients with SMI and the general population (mean ratio [MR]: 1.02; 95%CI 0.77-1.37), whereas a 39% increase in 10-year CV risk was observed in women with SMI compared to the general population (MR: 1.39; 95%CI 1.16-1.66). Conclusions: In our study, women with SMI were consistently more at risk than the general population counterpart, even at younger age

Compliance, persistence, costs and quality of life in young patients treated with antipsychotic drugs: results from the COMETA study

BACKGROUND: Little data is available on the real-world socio-economic burden and outcomes in schizophrenia. This study aimed to assess persistence, compliance, costs and Health-Related Quality-of-Life (HRQoL) in young patients undergoing antipsychotic treatment according to clinical practice. METHODS: A naturalistic, longitudinal, multicentre cohort study was conducted: we involved 637 patients aged 18–40 years, with schizophrenia or schizophreniform disorder diagnosed ≤10 years before, enrolled in 86 Italian Mental Health Centres and followed-up for 1 year. Comparisons were conducted between naïve (i.e., patients visiting the centre for the first time and starting a new treatment regimen) and non naïve patients. RESULTS: At enrolment, 84% of patients were taking atypical drugs, 3.7% typical, 10% a combination of the two classes, and 2% were untreated. During follow-up, 23% of patients switched at least once to a different class of treatment, a combination or no treatment. The mean Drug-Attitude-Inventory score was 43.4, with 94.3% of the patients considered compliant by the clinicians. On average, medical costs at baseline were 390.93€/patient-month, mostly for drug treatment (29.5%), psychotherapy (29.2%), and hospitalizations (27.1%). Patients and caregivers lost 3.5 days/patient-month of productivity. During follow-up, attitude toward treatment remained fairly similar, medical costs were generally stable, while productivity, clinical statusand HRQoL significantly improved. While no significantly different overall direct costs trends were found between naïve and non naïve patients, naïve patients showed generally a significant mean higher improvement of clinical outcomes, HRQoL and indirect costs, compared to the others. CONCLUSIONS: Our results suggest how tailoring the treatment strategy according to the complex and specific patient needs make it possible to achieve benefits and to allocate more efficiently resources. This study can also provide information on the most relevant items to be considered when conducting cost-effectiveness studies comparing specific alternatives for the treatment of target patients

Web-based assessment of Parkinson's prodromal markers identifies GBA variants.

Identifying those “at risk” of Parkinson’s disease (PD) is a priority and a key strategy for testing neuroprotective agents. PREDICT-PD is a pilot cohort study in which healthy UK adults are screened online (www.predictpd.com) with a questionnaire that ascertains the presence of early phenotypic features and risk factors, based on systematic review