Luogo e identità: comprendere il Genius Loci, Place and identity. Conceiving the Genius Loci

The Genius Loci sinks roots in the classical era, where the Genius was everyday part of everyday life. This paper is an attempt to capture the true sense of the Genius figure analyzing verses from authors who have written about it and reporting some iconographic illustrations. There are a lot of literary sources and different interpretations, and these are often contradictory. Today this locution is used in various contexts, however we can recognize the Genius Loci in some places and cities, and it can remain in our memories. Someone could make a transposition between Genius and place, because just as devastating a place could antagonise the Genius Loci, in the same way when the soil of a territory is overused, depriving it of its resources, and when the relationships between location and morphology are neither understood nor respected, there is a risk that it will rebel, giving rise to natural phenomena of no small consequenc

Adolescent idiopathic scoliosis screening: Could a school-based assessment protocol be useful for an early diagnosis?

BACKGROUND: Adolescent idiopathic scoliosis screening still needs a considerable implementation, particularly throughout a school-based assessment protocol. OBJECTIVE: This study aims to evaluate the effectiveness of clinical examinations currently in use for the diagnosis of adolescent idiopathic scoliosis, through a survey carried out in secondary schools to standardize a screening protocol that could be generalized. METHODS: In their classrooms, the adolescents underwent an idiopathic scoliosis screening through three examinations: Adam’s test, axial trunk rotation (ATR) and plumb line. In case of single positivity to one of the three examinations, a column X-ray examination was recommended. RESULTS: The sensitivity and diagnostic specificity of Adam’s test or ATR were 56.3% and 92.7%, respectively. The positivity to at least one between ATR or plumb line showed that sensitivity was higher than specificity: 91.3% versus 80.8%; the positivity to at least one between Adams’s test or plumb line showed a sensitivity of 95.2% and a specificity of 81.5%. Finally, the positivity to all three examinations showed an increase in specificity (99.7%). CONCLUSIONS: Taken together, our findings show that this school-based screening protocol had a very high specificity in early diagnosis of adolescent idiopathic scoliosis

Cartografía, salud y etnografía aplicada en los Valles Calchaquíes: aportes al proyecto Redes, Mapas y Salud

En esta presentación realizaremos una breve exposición de nuestra experiencia como pasantes dentro de un proyecto de extensión orientado a la atención primaria de la salud en los Valles Calchaquíes salteños (departamento de Molinos). Nuestro objetivo radica en poder realizar una reflexión sobre la práctica antropológica, nuestras experiencias como pasantes y sus posibles aplicaciones, inscribiendo está dentro del marco de las prácticas integrales. Durante el 2019 generamos diferentes bases de datos, que servirían como insumos para la construcción y actualización de un registro sistematizado y accesible de datos sanitarios, sociodemográficos y geoespaciales. Los materiales y datos fueron facilitados en el marco de un convenio entre las autoridades sanitarias de Molinos y el Laboratorio de investigaciones en etnografía aplicada. Los mismos provienen del relevamiento que los agentes sanitarios (AS) realizan en las planillas de Atención Primaria de la Salud durante las visitas periódicas a cada una de las familias del sector que poseen a su cargo, además del uso operativo de la “cartografía a mano alzada” o “mapas cognitivos”. Los pasantes nos dedicamos a la sistematización y elaboración de bases de datos específicas que puedan geolocalizarse, construyendo un sistema de información geográfica del área. Mientras que uno de los grupos trabajó con datos sociodemográficos; otro lo hizo con datos sanitarios; y el último con datos geoespaciales. Como resultado se generó cartografía temática a nivel departamental y por sector, con la ubicación de las unidades domésticas (UD) y otros puntos de interés con la pretensión de ser utilizados en la realización de las actividades de los AS. Asimismo se prevé que estos mapas permitirán la carga de datos en terreno de forma manual, a la vez que facilitarán la sistematización a posteriori de los mismos para su inclusión en bases de datos del Hospital del pueblo de Molinos. En términos formativos, la experiencia sirvió para motivar, entrenar y potenciar el trabajo en equipo, estimulando la comunicación, coordinación y cooperación grupal, así como en el desarrollo de metodologías y técnicas para el manejo de datos. En este sentido, esta presentación sigue esa línea de trabajo. Evidenciando la utilidad de la antropología aplicada en el marco de la innovación social, potenciando la labor de los AS y el compromiso estudiantil.GT69 - Antropología Aplicada y Modelos Complejos: expandiendo la frontera metodológica.Universidad Nacional de La Plat

Risk Factors, Lifestyle and Prevention among Adolescents with Idiopathic Juvenile Scoliosis: A Cross Sectional Study in Eleven First-Grade Secondary Schools of Palermo Province, Italy

Adolescent idiopathic scoliosis (AIS) has an incidence of 2–3% in the general population and a multifactorial etiology. The present study aims to analyze modifiable risk factors and their interactions in the development of AIS in order to increase knowledge about the disease and to prevent the evolution of AIS in young students with tailored public health strategies. A crosssectional study was conducted over two consecutive school years among students attending 11 firstgrade secondary schools in the province of Palermo, Italy. A self-administered questionnaire that investigated socio-demographical, physical and anamnestic characteristics and habits, focusing on possible risk factors associated with idiopathic scoliosis, was administered. In addition, a clinical evaluation was performed with Adams’ test and Bunnel’s inclinometer. Suspected AIS cases were associated with the practice of high-risk sports (p < 0.05), weekly physical activity lasting 3 h (p < 0.05), lower back pain (p < 0.001), posture disorders (p < 0.01) and having had no contact with a physician (p < 0.01). Practice of high-risk sports (adj OR = 1.83; CI 95% 1.11–4.76) and suffering of posture disorders (adj OR = 1.67; CI 95% 1.12–3.60) showed a significant association with a confirmed diagnosis of AIS (Cobb angle 10 at X-ray). The risk factors associated with AIS are still unclear. Therefore, it is crucial to identify early modifiable and multiple risk factors to prevent the evolution of scoliosis in school-age children

Competitiveness during Dual-Species Biofilm Formation of Fusarium oxysporum and Candida albicans and a Novel Treatment Strategy

During an infection, a single or multispecies biofilm can develop. Infections caused by non-dermatophyte molds, such as Fusarium spp. and yeasts, such as Candida spp., are particularly difficult to treat due to the formation of a mixed biofilm of the two species. Fusarium oxysporum is responsible for approximately 20% of human fusariosis, while Candida albicans is responsible for superficial mucosal and dermal infections and for disseminated bloodstream infections with a mortality rate above 40%. This study aims to investigate the interactions between C. albicans and F. oxysporum dual-species biofilm, considering variable formation conditions. Further, the ability of the WMR peptide, a modified version of myxinidin, to eradicate the mixed biofilm when used alone or in combination with fluconazole (FLC) was tested, and the efficacy of the combination of WMR and FLC at low doses was assessed, as well as its effect on the expression of some biofilm-related adhesin and hyphal regulatory genes. Finally, in order to confirm our findings in vivo and explore the synergistic effect of the two drugs, we utilized the Galleria mellonella infection model. We concluded that C. albicans negatively affects F. oxysporum growth in mixed biofilms. Combinatorial treatment by WMR and FLC significantly reduced the biomass and viability of both species in mature mixed biofilms, and these effects coincided with the reduced expression of biofilm-related genes in both fungi. Our results were confirmed in vivo since the synergistic antifungal activity of WMR and FLC increased the survival of infected larvae and reduced tissue invasion. These findings highlight the importance of drug combinations as an alternative treatment for C. albicans and F. oxysporum mixed biofilms

Polθ: emerging synthetic lethal partner in homologous recombination-deficient tumors

The most remarkable finding in synthetic lethality (SL) is the hypersensitivity to PARP inhibitors (PARPis) of the tumors harboring defects in genes involved in homologous repair (HR) such as BRCA1/2. Despite initial responsiveness to PARPi, the penetrance of the synthetic lethal interactions between BRCA1/2 genes and PARPi is incomplete. Thus, a significant proportion of HR-defective tumors experience intrinsic or acquired resistance, representing a key challenge of clinical research. An expanded concept of SL is opening new ways and includes novel forms of genetic interactions, investigating not only traditional SL of pairs genes but also SL between biological pathways that regulate the same essential survival cell function. In this context, recent research showed that HR and theta-mediated end-joining (TMEJ) pathways exhibit SL. DNA polymerase theta (Pol theta) is encoded by the POLQ gene and is a key component of the TMEJ, an essential backup pathway, intrinsically mutagenic, to repair resected double-strand breaks (DSBs) when the non-homologous end joining (NHEJ) and HR are impaired. Pol theta is broadly expressed in normal tissues, overexpressed in several cancers, and typically associated with poor outcomes and shorter relapse-free survival. Notably, HR-deficient tumor cells present the characteristic mutational signatures of the error-prone TMEJ pathway. According to this observation, the loss of HR proteins, such as BRCA1 or BRCA2, contributes to increasing the TMEJ-specific genomic profile, suggesting synthetic lethal interactions between loss of the POLQ and HR genes, and resulting in the emerging interest for Pol theta as a potential therapeutic target in BRCA1/2-associated tumors.This review summarizes the converging roles of the POLQ and HR genes in DNA DSB repair, the early-stage clinical trials using Pol theta inhibitor to treat HR-defective tumors and to overcome BRCA-reversion mutations responsible for therapeutic resistance, and the novel pleiotropic effects of Pol theta, paving the way for the development of unexplored synthetic lethality strategies

The intersection of homologous recombination (HR) and mismatch repair (MMR) pathways in DNA repair-defective tumors

Homologous recombination (HR) and mismatch repair (MMR) defects are driver mutational imprints and actionable biomarkers in DNA repair-defective tumors. Although usually thought as mutually exclusive pathways, recent preclinical and clinical research provide preliminary evidence of a functional crosslink and crosstalk between HRR and MMR. Shared core proteins are identified as key players in both pathways, broadening the concept of DNA repair mechanism exclusivity in specific tumor types. These observations may result in unexplored forms of synthetic lethality or hypermutable tumor phenotypes, potentially impacting the cancer risk management, and considerably expanding in the future the therapeutic window for DNA repair-defective tumors

Exploring the potential of multiomics liquid biopsy testing in the clinical setting of lung cancer

The transformative role of artificial intelligence (AI) and multiomics could enhance the diagnostic and prognostic capabilities of liquid biopsy (LB) for lung cancer (LC). Despite advances, the transition from tissue biopsies to more sophisticated, non-invasive methods like LB has been impeded by challenges such as the heterogeneity of biomarkers and the low concentration of tumour-related analytes. The advent of multiomics - enabled by deep learning algorithms - offers a solution by allowing the simultaneous analysis of various analytes across multiple biological fluids, presenting a paradigm shift in cancer diagnostics. Through multi-marker, multi-analyte and multi-source approaches, this review showcases how AI and multiomics are identifying clinically valuable biomarker combinations that correlate with patients' health statuses. However, the path towards clinical implementation is fraught with challenges, including study reproducibility and lack of methodological standardization, thus necessitating urgent solutions to solve these common issues.A flow diagram to visualize how multiomics approaches can be split into multi-marker, multi-analyte and multi-source approach; then, their link to AI, to decrypt and use in the clinical setting the messages hidden within them. The combined use of Artificial Intelligence (AI) and multiomics could improve the diagnosis and prognosis of Lung Cancer (LC) via Liquid Biopsy (LB); through multi-marker, multi-analyte, and multi-source analysis, the way is paved for the achievement of these goals, once tested through appropriate large-scale multi-center studies.imag

Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system of unknown etiology with both genetic and environmental factors playing a role in susceptibility. To date, the HLA DR15/DQ6 haplotype within the major histocompatibility complex on chromosome 6p, is the strongest genetic risk factor associated with MS susceptibility. Additional alleles of IL7 and IL2 have been identified as risk factors for MS with small effect. Here we present two independent studies supporting an allelic association of MS with polymorphisms in the ST8SIA1 gene, located on chromosome 12p12 and encoding ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1. The initial association was made in a single three-generation family where a single-nucleotide polymorphism (SNP) rs4762896, was segregating together with HLA DR15/DQ6 in MS patients. A study of 274 family trios ( affected child and both unaffected parents) from Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS

Neurological Disorders in Takotsubo Syndrome: Clinical Phenotypes and Outcomes

Background: Neurological disorders as a risk factor for Takotsubo syndrome (TTS) are not well characterized. The aim of the study was to evaluate TTS-associated neurological phenotypes and outcome. Methods and results: Patients with TTS enrolled in the international multicenter GEIST (German Italian Spanish Takotsubo) registry were analyzed. Prevalence, clinical characteristics, and short- and long-term outcomes of patients with TTS were recorded. A subgroup analysis of the 5 most represented neurological disorders was performed. In total, 400 (17%) of 2301 patients had neurological disorders. The most represented neurological conditions were previous cerebrovascular events (39%), followed by neurodegenerative disorders (30.7%), migraine (10%), epilepsy (9.5%), and brain tumors (5%). During hospitalization, patients with neurological disorders had longer in-hospital stay (8 [interquartile range, 5-12] versus 6 [interquartile range, 5-9] days; P<0.01) and more often experienced in-hospital complications (27% versus 16%; P=0.01) mainly driven by cardiogenic shock and in-hospital death (12% versus 7.6% and 6.5% versus 2.8%, respectively; both P<0.01). Survival analysis showed a higher mortality rate in neurological patients both at 60 days and long-term (8.8% versus 3.4% and 23.5% versus 10.1%, respectively; both P<0.01). Neurological disorder was an independent predictor of both the 60-day and long-term mortality rate (odds ratio, 1.78 [95% CI, 1.07-2.97]; P=0.02; hazard ratio, 1.72 [95% CI, 1.33-2.22]; both P<0.001). Patients with neurodegenerative disorders had the worst prognosis among the neurological disease subgroups, whereas patients with TTS with migraine had a favorable prognosis (long-term mortality rates, 29.2% and 9.7%, respectively). Conclusions: Neurological disorders identify a high-risk TTS subgroup for enhanced short- and long-term mortality rate. Careful recognition of neurological disorders and phenotype is therefore needed