Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70-75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti-epileptic therapies in 22 patients with genetically confirmed MWS. Onset of seizures occurred at a median age of 14.5 months (range: 1-108 months). The main seizure types were focal and atypical absence seizures. In all patients the first seizure was a focal seizure, often precipitated by fever. The semiology was variable, including hypomotor, versive, or focal clonic manifestations; frequency ranged from daily to sporadic. Focal seizures were more frequent during drowsiness and sleep. In 13 patients, atypical absence seizures appeared later in the course of the disease, usually after the age of 4 years. Epilepsy was usually quite difficult to treat: seizure freedom was achieved in nine out of the 20 treated patients. At epilepsy onset, the EEGs were normal or showed only mild slowing of background activity. During follow-up, irregular, diffuse frontally dominant and occasionally asymmetric spike and waves discharges were seen in most patients. Sleep markedly activated these abnormalities, resulting in continuous or near-to-continuous spike and wave activity during slow wave sleep. Slowing of background activity and poverty of physiological sleep features were seen in most patients. Our data suggest that a distinct electroclinical phenotype, characterized by focal and atypical absence seizures, often preceded by febrile seizures, and age-dependent EEG changes, can be recognized in most patients with MWS.

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Reactive oxygen species (ROS) could be important causative agents of a number of human diseases, including cancer. Thus, antioxidants, which control the oxidative stress state, represent a major line of defense regulating overall health. Human plasma contains many different nonenzymatic antioxidants. Because of their number, it is difficult to measure each of these different antioxidants separately. In addition, the antioxidant status in human plasma is dynamic and may be affected by many factors. Thus, the relationship between nonenzymatic antioxidant capacity of plasma and levels of well-known markers of oxidative stress (oxidized proteins, lipid hydroperoxides, decreases in thiol groups) better reflects health status. The present study considers antioxidant capacity and oxidative stress in human plasma of patients with colon cancer or precancerous lesions, as well as before and after surgical removal of tumors and/or chemo/radiation therapy. Healthy blood donors were used as controls. Colon cancer patients demonstrated a significant decrease in nonproteic antioxidant status and in total thiol groups with respect to healthy controls, whereas oxidized proteins and lipid hydroperoxide levels were significantly increased. In patients with precancerous lesions, the only unmodified parameter was the thiol group level. After surgery, the levels of oxidized proteins, lipid hydroperoxides, and total thiol groups were restored to those seen in healthy subjects, whereas nonproteic antioxidant capacity remained unmodified from that determined before surgery. Conversely, chemo/radiation therapy increased both nonproteic antioxidant capacity and levels of oxidized proteins and lipid hydroperoxides and significantly decreased total thiol groups. These results further support the hypothesis that oxidative stress correlates to the risk of some forms of cancer, not only in the initial stages but also during progression.

Background: Antimicrobial resistance (AMR) is one of the most concerning issues in medicine today. The objectives of this study were to investigate the AMR distribution of the blood-borne pathogens isolated over a two-year period in an Italian region. Methods: A retrospective electronic record review of laboratory-confirmed bloodstream infections (BSIs) was done, and data from three major diagnostic laboratories were used. Twelve invasive clinically important bacteria species were included in the sample. Results: During the study period, 1228 positive BSIs were collected. The most common pathogens were Coagulase-negative Staphylococcus (CoNS) (29.7%), Staphylococcus aureus (19.1%) and Escherichia coli (15.9%). With regard to the AMR pattern, 31.7% of CoNS and 28.1% of Staphylococcus aureus were oxacillin-resistant, and almost half of the Enterococci showed resistance to high-level gentamicin. Among Gram-negative species, 11.7% of Escherichia coli and 39.5% of Klebsiella pneumoniae were carbapenem-resistant. Among the non-fermentative Gram-negative bacteria, the most frequently combined AMR pattern was aminoglycosides and fluoroquinolones (48.4% in A. baumannii and 14.6% in P. aeruginosa). Conclusion: The results display an alarming prevalence of AMR among hospital isolated pathogens, consistently higher than the European average. Information from surveillance systems to better characterize the trend in the incidence of AMR at local and national levels is needed.

ObjectivesA meta-analysis was conducted to examine the effectiveness of HPV self-sampling proposal on cervical cancer screening (CCS) uptake when compared with an invitation to have a clinician to collect the sample. Secondary outcomes were acceptability and preference of self-sampling compared to clinician-collected samples.MethodsThe present systematic review and meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies examining the CCS uptake comparing self-sampling over invitation to be sampled by an healthcare professional and examining the proportion of women accepting or preferring self-sampling vs. clinician-collected sampling were included. The CCS uptake was also explored according to strategy of self-samplers' distribution, collection device type and screening status. Peters' test and Funnel Plot inspection were used to assess the publication bias. Quality of the studies was assessed through Cochrane Risk of Bias and NIH Quality Assessment tools.ResultsOne hundred fifty-four studies were globally identified, and 482,271 women were involved. Self-sampling procedures nearly doubled the probability (RR: 1.8; 95% CI: 1.7–2.0) of CCS uptake when compared with clinician-collected samples. The opt-out (RR: 2.1; 95% CI: 1.9–2.4) and the door-to-door (RR: 1.8; 95% CI: 1.6–2.0) did not statistically significant differ (p = 1.177) in improving the CCS uptake. A higher relative uptake was shown for brushes (RR: 1.6; 95% CI: 1.5–1.7) and swabs (RR: 2.5; 95% CI: 1.9–3.1) over clinician-collected samples. A high between-studies variability in characteristics of sampled women was shown. In all meta-analyses the level of heterogeneity was consistently high (I2 > 95%). Publication bias was unlikely.ConclusionsSelf-sampling has the potential to increase participation of under-screened women in the CCS, in addition to the standard invitation to have a clinician to collect the sample. For small communities door-to-door distribution could be preferred to distribute the self-sampler while; for large communities opt-out strategies should be preferred over opt-in. Since no significant difference in acceptability and preference of device type was demonstrated among women, and swabs and brushes exhibited a potential stronger effect in improving CCS, these devices could be adopted.