Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review

IntroductionSLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure types, intellectual disability, and psychiatric symptoms affecting mood and behavior. Few data regarding neuropsychological features have been described, and details on cognitive profiles are often missing due to the lack of standardized tests.MethodsWe retrospectively reviewed the neuropsychological assessments of five subjects carrying heterozygous missense genetic variants in SLC6A1. We also collected data on epileptic features, EEGs, and brain MRIs. Additionally, we reviewed neuropsychological data from 204 previously reported patients with SLC6A1 pathogenic variants.ResultsIn our series, at the last evaluation (median 12.6 years), three patients had borderline intellectual functioning, one patient had mild cognitive impairment, and one patient presented with a moderate cognitive disability. Three out of five patients underwent at least two neuropsychological evaluations, which revealed a worsening of cognitive functions over time. We detected attention deficits in all patients. In addition, we observed anxiety, disruptive behavior disorder, emotional instability, and hetero aggressiveness. We also performed a literature review that highlighted that most of the patients with SLC6A1 pathogenic variants have mild-to-moderate intellectual disability and that one-third of cases have autistic traits.DiscussionBased on the literature review and the detailed description of our cases, we conclude that patients with SLC6A1-related epilepsy mostly present with mild-to-moderate intellectual disability, often associated with attention disorders. Such symptoms may worsen over time. Periodic standardized neuropsychological tests may be useful tools to follow development over time, and patient-specific rehabilitation programs could be tailored consistently

To what extent can decommissioning options for marine artificial structures move us toward environmental targets?

Switching from fossil fuels to renewable energy is key to international energy transition efforts and the move toward net zero. For many nations, this requires decommissioning of hundreds of oil and gas infrastructure in the marine environment. Current international, regional and national legislation largely dictates that structures must be completely removed at end-of-life although, increasingly, alternative decommissioning options are being promoted and implemented. Yet, a paucity of real-world case studies describing the impacts of decommissioning on the environment make decision-making with respect to which option(s) might be optimal for meeting international and regional strategic environmental targets challenging. To address this gap, we draw together international expertise and judgment from marine environmental scientists on marine artificial structures as an alternative source of evidence that explores how different decommissioning options might ameliorate pressures that drive environmental status toward (or away) from environmental objectives. Synthesis reveals that for 37 United Nations and Oslo-Paris Commissions (OSPAR) global and regional environmental targets, experts consider repurposing or abandoning individual structures, or abandoning multiple structures across a region, as the options that would most strongly contribute toward targets. This collective view suggests complete removal may not be best for the environment or society. However, different decommissioning options act in different ways and make variable contributions toward environmental targets, such that policy makers and managers would likely need to prioritise some targets over others considering political, social, economic, and ecological contexts. Current policy may not result in optimal outcomes for the environment or society

The urban-rural divide in anti-EU vote: Social, demographic and economic factors affecting the vote for parties opposed to European integration

In recent years, protest voting, voting for populist parties and, specifically for Europe, votes for parties opposed to European integration, have increased substantially. This has focussed the attention of researchers and policy makers on the causes behind this trend. Most of the existing research looked at voters’ characteristics, mainly values, education and age, or economic insecurity, such as rising unemployment or a declining economy more in general. This paper focuses instead on the urban-rural divide in anti-EU sentiment, and tries to explain why cities – and urban areas in general - in Europe tend to vote less for Eurosceptic parties. Using electoral data for national elections at the electoral district level for the years 2013-2018 and political parties’ orientation as assessed by the Chapel Hill Expert Survey, we find robust statistical evidence of a lower anti-EU vote in cities, towns and suburbs than in rural areas. We also find that drivers of voting for anti-EU parties differ significantly between urban and rural areas in the EU and UK, despite some similarities. We show that three factors are associated to a higher anti-EU vote in all areas: growth in unemployment, a low turnout and a higher share of people born outside the EU. A sluggish economy is associated to a higher anti-EU sentiment in rural areas, but not in cities and towns and suburbs. Higher shares of university graduates, people aged 20-64, and of people born in a different EU country reduce anti-EU voting in rural areas and towns and suburbs, but have no impact in cities

Plication corporoplasty versus Nesbit operation for the correction of congenital penile curvature. A long-term follow-up

Aim of the study is to evaluate the long-term results of tunica albuginea plication in patients with congenital curvature of the penis and to compare them with those obtained with the Nesbit technique. Overall, 62 patients underwent surgical correction of congenital curvature of the penis from 2003 to 2008 at our institution. Of these, only 31 consented to be reevaluated. Nineteen patients had plication corporoplasty by means of one or more double crossed introflecting stitches (group A) while 12 patients had a traditional Nesbit technique with excision of small parts of tunica albuginea (group B). All patients were reevaluated with physical examination, a specific questionnaire and self-photography on erection, after a mean follow-up of 38 months in group A and 40 months in group B. Student's t test was employed for statistical analyses. A total of 3 recurrences of curvature were observed in group A, 1-3 months after surgery, which required surgical correction. In all three patients, reabsorbable sutures had been employed for albuginea plication. No recurrences were observed in group B (P = 0.15). A minimal persistent deviation was present in 6 patients in group A (31%) and in 6 patients in group B (50%) (P = 0.29). A minimal hyposensitivity of glans and prepuce was reported in 7 patients in group A (38%) and in 9 patients in group B (75%) (P = 0.03). Plication corporoplasty yields good and stable results when compared to the Nesbit technique provided that unabsorbable sutures are used and superficial scalpel incision of the albuginea is performed

Sclerostomia “ab esterno” mediante Ho-YAG laser pulsato nel glaucoma primario ad angolo aperto. Risultati preliminari

Gli ultimi decenni sono stati caratterizzati da un notevole impulso alla ricerca di metodiche di trattamento del glaucoma primario ad angolo aperto mediante radiazione laser in alternativa alla chirurgia filtrante tradizionale. D'altra parte, la scarsa stabilità nel tempo dei risultati ottenuti con le tecniche di trabeculoplastica Argon e Nd:YAG laser e la costante evoluzione della tecnologia hanno riportato in auge le tecniche di sclerostomia, aggiornate mediante l'utilizzo di diverse sorgenti di radiazione laser. Gli Autori presentano i risultati preliminari della loro esperienza relativa al trattamento del glaucoma primario ad angolo aperto mediante sclerostomia "ab esterno" eseguita con Ho-YAG laser pulsato e monitoraggio post-operatorio dei valori tonometrici sino a 4 mesi

What makes cities happy? Factors contributing to life satisfaction in European cities

The purpose of this study is to identify the main factors of city life satisfaction across Europe. Data come from the recent fifth survey on quality of life in European cities and cover 83 cities located in the European Union, the European Free Trade Association countries, the United Kingdom, the Western Balkan Region and Turkey. In addition to running classical econometric analysis, we quantify the relative importance of the various determinants of overall satisfaction with life in cities, thus offering novel insights to shape evidence-based urban policies. The results highlight that two main policy-relevant areas contribute to the satisfaction with city life: the presence of amenities, on the one hand, and the inclusiveness and safety feeling, on the other hand. Socio-economic characteristics are generally not relevant, with the exception of economic insecurity

UNCONSUMED MARRIAGE BEETWEEN TRADITION AND NEW WAY OF APPEARANCE

Abstrac

Modified “pluck” technique with Tissucol for the management of distal ureter during nephroureterectomy

Introduction & Objectives: Nephroureterectomy is a well established technique for managing the upper urinary tract urothelial carcinoma (UTCC). However, management of the distal ureter remains a controversial issue. We describe a modified method of “pluck” technique using fibrin glue (Tissucol™) in order to improve the oncologic efficacy of this technique. Material & Methods: Since 2007 to September 2008, 10 consecutive patients underwent nephrouretherectomy (6 open and 4 laparoscopic) with our modified distal ureter technique for pelvis and/or caliceal UTCC. Patients were placed in lithotomy position. Cystoscopy was performed with a 23 Fr cystoscope and a 8 Fr ureteral catheter was inserted in the ureter up to 10 cm. At this point, an injection of Tissucol™ 2 ml was performed in order to create a fibrin obstructive cup. After 30 sec, by a 24 Fr resectoscope the ureteric stump was further dissected until the perivescical fat was reached. Results: In both procedures, laparoscopic and open nephrouretherectomy, the ureter was easily identified at the level of iliac artery. The ureter clearly resulted to be overfilled by the obstructive cup. At the end of the procedures all the ureteric specimens were spatulated and transversally dissected in order to evaluate the efficacy of the Tissucol™ cup. In all cases Tissucol™ provided an airtight lumen obstruction. Conclusions: Our modified technique appeared to be a simple, less invasive and oncologically safe method to manage the distal ureter