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Background: A consensus on an optical coherence tomography (OCT) definition of lamellar macular hole (LMH) and similar conditions is needed. Methods: The panel reviewed relevant peer-reviewed literature to reach a consensus on LMH definition and to differentiate LMH from other similar conditions.Results: The panel reached a consensus on the definition of 3 clinical entities: LMH, epiretinal membrane (ERM) foveoschisis and macular pseudohole (MPH). LMH definition is based on 3 mandatory criteria and 3 optional anatomical features. The 3 mandatory criteria are the presence of irregular foveal contour, the presence of a foveal cavity with undermined edges, and the apparent loss of foveal tissue. Optional anatomical features include the presence of epiretinal proliferation, the presence of a foveal bump and the disruption of the ellipsoid line. ERM foveoschisis definition is based on 2 mandatory criteria: the presence of ERM and the presence of schisis at the level of Henle’s fiber layer. Three optional anatomical features can also be present: the presence of microcystoid spaces in the inner nuclear layer (INL), an increase of retinal thickness, and the presence of retinal wrinkling. MPH definition is based on 3 mandatory criteria and 2 optional anatomical features. Mandatory criteria include the presence of a foveal sparing ERM, the presence of a steepened foveal profile and an increased central retinal thickness. Optional anatomical features are the presence of microcystoid spaces in the INL and a normal retinal thickness.Conclusions: The use of the proposed definitions may provide uniform language for clinicians and future research.

Abstract Background The availability of transcriptomic data for species without a reference genome enables the construction of de novo transcriptome assemblies as alternative reference resources from RNA-Seq data. A transcriptome provides direct information about a species’ protein-coding genes under specific experimental conditions. The de novo assembly process produces a unigenes file in FASTA format, subsequently targeted for the annotation. Homology-based annotation, a method to infer the function of sequences by estimating similarity with other sequences in a reference database, is a computationally demanding procedure. Results To mitigate the computational burden, we introduce HPC-T-Annotator, a tool for de novo transcriptome homology annotation on high performance computing (HPC) infrastructures, designed for straightforward configuration via a Web interface. Once the configuration data are given, the entire parallel computing software for annotation is automatically generated and can be launched on a supercomputer using a simple command line. The output data can then be easily viewed using post-processing utilities in the form of Python notebooks integrated in the proposed software. Conclusions HPC-T-Annotator expedites homology-based annotation in de novo transcriptome assemblies. Its efficient parallelization strategy on HPC infrastructures significantly reduces computational load and execution times, enabling large-scale transcriptome analysis and comparison projects, while its intuitive graphical interface extends accessibility to users without IT skills.

Abstract Background The ethnobotanical analysis of two bordering areas allows for the in-depth understanding of the dynamics of Local Ecological Knowledge, which mirrors the naturalistic, historical, and sociopolitical features of each area. As part of the Interreg Italy-Switzerland B-ICE&Heritage and GEMME projects, this work is an ethnobotanical comparative study of two neighboring Alpine territories: Valmalenco (Italy) and Valposchiavo (Switzerland). Methods A total of 471 informants were interviewed on different fields of use (medicinal, food, veterinary, etc.). All data were organized in Excel™ spreadsheets. Informant Consensus Factor was calculated for the pathologies reported. Jaccard’s similarity indices were calculated to compare the Valmalenco and Valposchiavo areas. Subsequently, another comparison between Valmalenco/Valposchiavo and Italian/Swiss Alpine neighboring areas was carried out. Results The number of taxa for Valmalenco was 227 (77 families) and 226 in Valposchiavo (65). Out of the 10 most cited species, 7 were mentioned in both. Arnica montana L. was the most cited in Valmalenco, and Sambucus nigra L. in Valposchiavo. The 5 most cited families were the same. Regarding the medicinal and food fields, the similarity indices were fairly low (0.31 and 0.34 for the species; 0.22 and 0.31 for the uses). Concerning the comparison with Italian and Swiss Alps, similarity values were slightly higher with Italy (Valmalenco food species: 0.38 with Italy and 0.26 with Switzerland, medicinal: 0.26 IT and 0.14 SW; Valposchiavo food species: 0.36 with IT and 0.26 with SW, medicinal: 0.21 IT and 0.14 SW). Conclusion Although Valmalenco and Valposchiavo partly share natural environment, language, history, and culture, they had low similarity indices. They both seemed to have more similarities with Italy than Switzerland, maintaining low values with the surrounding territories too. They showed a common core of Local Ecological Knowledge with several divergent branches possibly due to pivotal historical happenings, as well as more modern external influences.

The unstable N=42 nucleus 72Zn has been studied using multiple safe Coulomb excitation in inverse kinematics. The experiment was performed at the REX-ISOLDE facility at CERN making first use of the silicon detector array C-REX in combination with the γ-ray spectrometer Miniball. The high angular coverage of C-REX allowed to determine the reduced transition strengths for the decay of the yrast 01+, 21+ and 41+ as well as of the 02+ and 22+ states in 72Zn. The quadrupole moments of the 21+, 41+ and 22+ states were extracted. Using model independent quadrupole invariants, the ground state of 72Zn was found to have an average deformation in the γ degree of freedom close to maximum triaxiality. In comparison to experimental data in zinc isotopes with N

Prison riots, though often sensationalized in the media, have profound consequences, with a significant death toll. Prison populations, historically plagued by psychiatric disorders, witness high rates of suicide, particularly linked to turbulent events like riots. This study examines three drug overdose deaths resulting from a prison riot during the initial wave of the SARS-CoV-2 pandemic in Italy. To ascertain the nature of these deaths, a comprehensive toxicological analysis was conducted. Immunochemical screening and gas chromatography-mass spectrometry were employed to detect a spectrum of drugs, including MDMA, methadone, morphine, cannabis derivatives, benzodiazepines, and others. The toxicological findings revealed high concentrations of various substances in the biological fluids of the deceased inmates. Tramadol and mirtazapine were implicated in one case, while methadone was a common factor in the deaths of two inmates, one of whom also ingested diazepam. The synergistic effects of substances were explored, with methadone identified as a leading cause of death in two cases. Prison riots exacerbate drug abuse issues within prisons, leading to mass intoxication and overdose, as witnessed in historic incidents globally. The study underscores the challenges in determining whether such deaths are accidental, intentional (suicidal), or a consequence of uncontrollable drug consumption during a riot. The prison environment also amplifies pre-existing psychiatric disorders, and incidents like riots can trigger a cascade of uncontrollable psychological reactions. The three potential scenarios are drug dependence, accidental overdose in recreational drug use, and suicide attempts through substance ingestion.

Despite the widespread use of examples in survey questions, very few studies have examined their impact on survey responses, and the evidence is mainly based on data collected in the United States using questionnaires in English. This study builds on previous research by examining the effects of providing examples using data from a cross-national probability-based web panel implemented in Estonia (n = 730), Great Britain (n = 685), and Slovenia (n = 529) during Round 8 of the European Social Survey (2017/18). Respondents were randomly assigned a survey question measuring confidence in social media using Facebook and Twitter as examples, or another condition in which no examples were offered. The results show that confidence in social media was significantly lower in the example condition, although the effect size was small. Confidence in social media varied across countries, and the effect of providing examples was heterogeneous across countries and education levels. The implications of these findings are discussed.

We examined Canadian host-society children's prosociality (i.e., emotions and behaviors that reflect care for the welfare of others) toward refugee newcomer peers and the role of parental socialization (i.e., frequency of parent-child conversations about refugee newcomers) in children's refugee-specific prosociality. The sample included 168 children (ages 6, 9, and 12 years; 51% girls; 58% European ethnicity) and their primary caregivers. We interviewed children to assess their ethical guilt-related emotions (based on emotions and reasoning) in response to a hypothetical vignette depicting prosocial omission involving a refugee newcomer peer or a non-refugee peer (between-subjects manipulation). A donation task was used to assess prosocial behavior wherein children were given the opportunity to donate chocolate coins to a refugee newcomer peer. Parents reported on how often they typically engage in conversations with their children about refugees and about inclusion. Children experienced similar intensities of ethical guilt-related emotions in the refugee compared with the nonrefugee condition, and donations to refugees increased across age groups. Furthermore, children whose parents engaged them in more frequent conversations about refugees expressed stronger ethical guilt-related emotions toward refugee peers (but not toward host-society peers), and donated more to a refugee peer. No significant associations between conversations about inclusion more broadly and refugee-specific prosociality were found. Encouraging parents to have conversations with their children that focus on the experiences of refugees may be important for fostering kindness between refugees and host-society children. Ultimately, these findings may contribute to initiatives that focus on promoting the inclusion of refugee newcomers in their postmigratory societies.

The γ decay of the elusive narrow, near-threshold proton resonance in 11B was investigated at Laboratori Nazionali di Legnaro (INFN) in a particle-γ coincidence experiment, using the 6Li(6Li,pγ) fusion-evaporation reaction and the GALILEO-GALTRACE setup. No clear signature was found for a possible E1 decay to the 1/21−, first-excited state of 11B, predicted by the Shell Model Embedded in the Continuum (SMEC) with a branching of 0.98−69+167×10−3 with respect to the dominant particle-decaying modes. The statistical analysis of the γ-ray spectrum provided an average upper limit of 2.37×10−3 for this γ-ray branching, with a global significance of 5σ. On the other hand, by imposing a global confidence level of 3σ, a significant excess of counts was observed for E=γ9300(20) keV, corresponding to a resonance energy of 11429(20) keV (namely 200(20) keV above the proton separation energy of 11B) and a γ-ray branching of 1.12(35)×10−3. This result is compatible with the SMEC calculations, potentially supporting the existence of a near-threshold proton resonance in 11B.

BackgroundPatients with central core myopathy (CCM) can be at risk of exercise-induced rhabdomyolysis and myalgia. Despite its possible positive effects, physical training has been long avoided in these patients as no population-specific exercise adaption strategies have been developed. Here we present the case of a 17-year-old male CCM patient who underwent a 3-month training program tailored to a preliminary test aimed at assessing his physical exertion tolerance measured via changes in serum creatine kinase (CK).MethodsThe preliminary tolerance test consisted of three 25-minute sessions (one session per week) of physical exercise (aerobic, resistance and mixed) at an intensity quantified as level 6 of the Borg Category Ratio (CR) 0–10 scale. A blood sample to assess CK was conducted 36 h following eachsession. The intervention consisted of a training program (three sessions per week) including both resistance and aerobic exercises concomitant with a personalized nutritional plan. Before and after intervention, a battery of metabolic (indirect calorimetry, bioimpedance) and cardiopulmonary (CPET) tests were performed.ResultsAfter training, improvements of the anaerobic threshold (+6.9%), normalized VO2 max (+15%) and body composition (muscle mass, +1.1 kg; fat mass, −1.1 kg were observed without pain, rhabdomyolysis, and blood CK augmentation compared to pretraining values.ConclusionOur results highlight that a mixed aerobic/resistance training, properly tailored and supported by a specific nutritional plan, may safely improve the physical fitness and body composition in a CCM patient. Dosing exercise-induced CK serum change following Borg CR-10 intensity assessment, may be useful to correctly tailor physical exercise in these patients.

Abstract Background Health risk behaviors often emerge or intensify during adolescence and tend to co-occur, exposing individuals to an even greater risk for the development of non-communicable diseases (NCDs). The likelihood of exhibiting multiple health risk factors also increases throughout life and is associated with sociodemographic characteristics contributing to their escalation and severity. In this context, the objective of this study was to analyze the association between sociodemographic characteristics and multiple behavioral risk factors for non-communicable diseases among the adolescent population in Brazil. Methods This cross-sectional study utilized data from the Brazilian National Survey of School Health 2019. The sample comprised 121,580 adolescents aged 13 to 17. The analyzed variables included irregular intake of fruits and vegetables, regular consumption of soft drinks and treats, insufficient physical activity, sedentary lifestyle, cigarette smoking, and alcohol consumption. To analyze MBRFs, a classification ranging from zero to five was created, and associations were estimated using Odds Ratio (OR) with the respective 95% confidence interval (CI). The Backward method was employed for the multivariate regression model, utilizing ordinal logistic regression. Results Adolescents without behavioral risk factors for NCDs constituted only 3.9% (95% CI 3.7–4.1). The most prevalent categories were two and three MBRFs, accounting for 28.3% (95% CI: 27.7–28.8) and 27.0% (95% CI: 26.5–27.5), respectively. Adolescents aged 16 and 17 (ORadj: 1.39; 95% CI: 1.32–1.48), residing in the Brazilian Southeast (ORadj: 1.66; 95% CI: 1.52–1.81), and those reporting poor or very poor self-rated health (ORadj: 2.05; 95% CI: 1.87–2.25) were more likely to exhibit multiple behavioral risk factors. Conversely, male adolescents (adjusted OR: 0.65; 95% CI: 0.62–0.69), those of mixed race (adjusted OR: 0.92; 95% CI: 0.87–0.97), and residents of rural areas (adjusted OR: 0.76; 95% CI: 0.70–0.84) were less likely to manifest MBRFs for NCDs. Conclusion The majority of adolescents displayed MBRFs for NCDs, positively associated with age, region, and perceived health status. This underscores the necessity for healthcare promotional interventions throughout the life cycle, as these behaviors may persist into adulthood.

Background:It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8-month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient. The program included strength, mobility, and balance training (two sessions per week, 1 h per session).Measures:Walking ability and walking velocity (Six-Minute Walking Test—6MWT, Ten Meters Walking Test—10 mW T), balance (Y-Balance Test—YBT, Berg Balance Scale—BBS), functional mobility (Short Physical Performance Battery—Short physical performance battery), fatigue (Checklist Individual strength questionnaire - CIS20R), health and quality of life (Short Form Health Survey 36 questionnaire—SF-36) were evaluated in three moments: before (T0), after 5 (T1) and 8 (T2) months of adapted motor activity. Dorsal and plantar foot flexion strength (Maximal Voluntary Contraction—maximum voluntary contraction) and neuromuscular functions (Electromyography—sEMG, interpolated twitch technique—ITT) were measured at T1 and T2.Results:Relative to T0, an amelioration of walking ability (6MWT, +9,3%) and balance (with improvements on Y-balance composite normalized mean reach of the right and left limb of 15,3% and 8,5%, respectively) was appreciable. Relative to T1, an increase in foot strength in three out of four movements (right plantar flexion, +39,3%, left plantar flexion, +22,7%, left dorsal flexion, 11,5%) was observed. Concerning voluntary muscle activation, a greater recruitment in the left, unlike right, medial gastrocnemius was observed.Conclusion:Results suggest the safety of an 8-month AMA program in a young patient affected by CMT1A.

Khat leaves, indigenous to eastern Africa, have been chewed for centuries for their stimulant effects, attributed to alkaloids such as cathinone and cathine. Although associated with gastric disorders like gastritis and gastro-oesophageal reflux disease, the underlying molecular mechanisms remain unclear. This study aimed to examine the morpho-anatomy of khat leaves using light microscopy and histochemistry and to assess the effects of leaf extracts and alkaloids on human gastric epithelial cells (GES-1). The study identified specific cells in the palisade–spongy transition zone as storage sites for psychoactive alkaloids. Leaf extracts were prepared by mimicking the chewing process, including a prolonged salivary phase followed by a gastric phase. Cytotoxicity and cell viability were evaluated using LDH and MTT assays, respectively. Additionally, the impact on IL-8 secretion, a key chemokine in gastric inflammation, was analysed under normal and TNF-α-stimulated conditions. The results showed no increase in cytotoxicity up to 250 µg/mL. However, there was a significant decrease in cell metabolism and a reduction in both basal and TNF-α-induced IL-8 secretion, but cathinone and cathine were inactive. These findings suggest that khat may not directly cause the gastric issues reported in the literature, which would rather be attributed to other confounding factors, highlighting the need for further research to clarify its biological impacts.

Polyphenols are a class of natural compounds that act as antioxidants, neutralising harmful free radicals that would damage cells and increase the risk of diseases such as cancer, diabetes and heart disease. They also reduce inflammation, which is thought to be at the root of many chronic diseases.We are investigating the photoprotective effects of punicalagin, a type of polyphenolic compound mainly found in pomegranates, against UVA-induced damage in human skin fibroblasts. Punicalagin increases cell viability and reduces the high levels of ROS generated by photooxidative stress through its ability to modulate the Nrf2 transcriptional pathway. Interestingly, activation of the Nrf2 pathway results in an increase in reduced glutathione, NADH, and subsequently protects mitochondrial respiratory capacity. Integrating molecular and imaging approaches, our results demonstrate a potential cytoprotective effect of punicalagin against UVA-induced skin damage through an anti-apoptotic mechanism.

Background: A consensus on an optical coherence tomography (OCT) definition of lamellar macular hole (LMH) and similar conditions is needed. Methods: The panel reviewed relevant peer-reviewed literature to reach a consensus on LMH definition and to differentiate LMH from other similar conditions.Results: The panel reached a consensus on the definition of 3 clinical entities: LMH, epiretinal membrane (ERM) foveoschisis and macular pseudohole (MPH). LMH definition is based on 3 mandatory criteria and 3 optional anatomical features. The 3 mandatory criteria are the presence of irregular foveal contour, the presence of a foveal cavity with undermined edges, and the apparent loss of foveal tissue. Optional anatomical features include the presence of epiretinal proliferation, the presence of a foveal bump and the disruption of the ellipsoid line. ERM foveoschisis definition is based on 2 mandatory criteria: the presence of ERM and the presence of schisis at the level of Henle’s fiber layer. Three optional anatomical features can also be present: the presence of microcystoid spaces in the inner nuclear layer (INL), an increase of retinal thickness, and the presence of retinal wrinkling. MPH definition is based on 3 mandatory criteria and 2 optional anatomical features. Mandatory criteria include the presence of a foveal sparing ERM, the presence of a steepened foveal profile and an increased central retinal thickness. Optional anatomical features are the presence of microcystoid spaces in the INL and a normal retinal thickness.Conclusions: The use of the proposed definitions may provide uniform language for clinicians and future research.

BackgroundA consensus on an optical coherence tomography definition of lamellar macular hole (LMH) and similar conditions is needed.MethodsThe panel reviewed relevant peer-reviewed literature to reach an accord on LMH definition and to differentiate LMH from other similar conditions.ResultsThe panel reached a consensus on the definition of three clinical entities: LMH, epiretinal membrane (ERM) foveoschisis and macular pseudohole (MPH). LMH definition is based on three mandatory criteria and three optional anatomical features. The three mandatory criteria are the presence of irregular foveal contour, the presence of a foveal cavity with undermined edges and the apparent loss of foveal tissue. Optional anatomical features include the presence of epiretinal proliferation, the presence of a central foveal bump and the disruption of the ellipsoid zone. ERM foveoschisis definition is based on two mandatory criteria: the presence of ERM and the presence of schisis at the level of Henle's fibre layer. Three optional anatomical features can also be present: the presence of microcystoid spaces in the inner nuclear layer (INL), an increase of retinal thickness and the presence of retinal wrinkling. MPH definition is based on three mandatory criteria and two optional anatomical features. Mandatory criteria include the presence of a foveal sparing ERM, the presence of a steepened foveal profile and an increased central retinal thickness. Optional anatomical features are the presence of microcystoid spaces in the INL and a normal retinal thickness.ConclusionsThe use of the proposed definitions may provide uniform language for clinicians and future research.

This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003–2017. The prevalence of CH and OH in DS patients was calculated by sex and by period. The association of CH and OH with CHDs in DS patients was assessed using multivariate logistic regression. The cohort included 228 subjects. The prevalence of CH and OH was 11.4% (95%CI: 7.4–16.7%) and 12.7% (95%CI: 8.5–12.3%), respectively, with no significant difference by sex. A significant increase in the prevalence of CH (p < 0.0001) was found in the years 2010–2017 compared to the previous period, and among preterm infants (p = 0.009). The presence of CH was associated with a higher prevalence of CHDs (adjusted OR = 2.24, p = 0.082). A significant association between ventricular septal defects (VSDs) and the occurrence of OH (adjusted OR = 3.07, p = 0.025) was also observed. This study confirmed the higher prevalence of both CH and OH in DS compared to the general population. Furthermore, the risk of association between DS and CHDs was higher in the presence of CH, while VSDs are associated with OH, providing relevant insights into the epidemiology of hypothyroidism in DS and associated anomalies.

BackgroundTo explore the role of foveal and parafoveal Müller cells in the morphology and pathophysiology of tractional macular disorders with a mathematical model of mechanical force transmission.MethodsIn this retrospective observational study, spectral-domain optical coherence tomography images of tractional lamellar macular holes and patients with myopic foveoschisis were reviewed and analysed with a mathematical model of force transmission. Parafoveal z-shaped Müller cells were modelled as a structure composed of three rigid rods, named R1, R2 and R3. The angle formed between the rods was referred to as θ . R1, R2 and R3 lengths as well as the variation of the angle θ were measured and correlated with best corrected visual acuity (BCVA).ResultsIn tractional lamellar macular holes, there was a significant reduction of the angle θ towards the foveal centre (p