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Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defects, hirsutism and intellectual disability can be distinguished from the nonclassic phenotype, which is generally milder and more difficult to diagnose. In addition, the clinical features overlap with those of other neurodevelopmental disorders, so the use of consensus clinical criteria and artificial intelligence tools may be helpful in confirming the diagnosis.Pathogenic variants in NIPBL, which encodes a protein related to the cohesin complex, have been identified in more than 60% of patients, and pathogenic variants in other genes related to this complex in another 15%: SMC1A, SMC3, RAD21, and HDAC8. Technical advances in large-scale sequencing have allowed the description of additional genes (BRD4, ANKRD11, MAU2), but the lack of molecular diagnosis in 15% of individuals and the substantial clinical heterogeneity of the syndrome suggest that other genes and mechanisms may be involved.Although there is no curative treatment, there are symptomatic/palliative treatments that paediatricians should be aware of. The main medical complication in classic SCdL is gastro-esophageal reflux (GER), which should be treated early. Resumen: El síndrome de Cornelia de Lange (SCdL) es un raro trastorno congénito del desarrollo de afectación multisistémica. Las manifestaciones clínicas son muy variables, pero se distingue entre un fenotipo clásico, caracterizado por unos rasgos craneofaciales distintivos, retraso del crecimiento pre y postnatal, defectos por reducción de las extremidades, hirsutismo y discapacidad intelectual y un fenotipo no clásico, generalmente más leve y más difícil de diagnosticar. Además, las características clínicas se superponen con las de otros desordenes del neurodesarrollo, por lo que la utilización de criterios clínicos consensuados y herramientas de inteligencia artificial pueden ser útiles para confirmar el diagnóstico.En más del 60% de los pacientes se han identificado variantes patogénicas en el gen NIPBL, que codifica una proteína relacionada con el complejo de la cohesina, y en otro 15% en 4 genes también asociados a este complejo: SMC1A, SMC3, RAD21 y HDAC8. Los progresos técnicos en las técnicas de secuenciación masiva han permitido describir otros genes relacionados (BRD4, ANKRD11 y MAU2), pero la ausencia de diagnóstico molecular en el 15% de los casos y la gran heterogeneidad clínica del síndrome, sugiere la existencia de otros genes y mecanismos relacionados.Aunque no haya un tratamiento curativo, sí hay tratamientos sintomáticos/paliativos que deben ser conocidos por el pediatra. La principal complicación médica en el SCdL clásico es el reflujo gastroesofágico (RGE), que debe ser tratado de forma precoz y contundente, ya que es una de las causas más frecuentes de fallecimiento en estos pacientes.

Abstract Introduction Hemorrhage is a major cause of preventable trauma deaths, and the ABC approach is widely used during the primary survey. We hypothesize that prioritizing circulation over intubation (CAB) can improve outcomes in patients with exsanguinating injuries. Methods A prospective observational study involving international trauma centers was conducted. Patients with systolic blood pressure below 90 who were intubated within 30 min of arrival were included. Prioritizing circulation (CAB) was defined as delaying intubation until blood products were started, and/or bleeding control was performed before securing the airway. Demographics, clinical data, and outcomes were recorded. Results The study included 278 eligible patients, with 61.5% falling within the “CAB” cohort and 38.5% in the “ABC” cohort. Demographic and disease characteristics, including age, sex, ISS, use of blood products, and other relevant factors, exhibited comparable distributions between the two cohorts. The CAB group had a higher proportion of penetrating injuries and more patients receiving intubation in the operating room. Notably, patients in the CAB group demonstrated higher GCS scores, lower SBP values before intubation but higher after intubation, and a significantly lower incidence of cardiac arrest and post-intubation hypotension. Key outcomes revealed significantly lower 24-hour mortality in the CAB group (11.1% vs. 69.2%), a lower rate of renal failure, and a higher rate of ARDS. Multivariable logistic regression models showed a 91% reduction in the odds of mortality within 24 h and an 89% reduction at 30 days for the CAB cohort compared to the ABC cohort. These findings suggest that prioritizing circulation before intubation is associated with improved outcomes in patients with exsanguinating injuries. Conclusion Post-intubation hypotension is observed to be correlated with worse outcomes. The consideration of prioritizing circulation over intubation in patients with exsanguinating injuries, allowing for resuscitation, or bleeding control, appears to be associated with potential improvements in survival. Emphasizing the importance of circulation and resuscitation is crucial, and this approach might offer benefits for various bleeding-related conditions.

Although cancer care is often contextualized in terms of survival, there are other important cancer care outcomes, such as quality of life and cost of care. The ASCO Value Framework assesses the value of cancer therapies not only in terms of survival but also with consideration of quality of life and financial cost. Early palliative care for patients with advanced cancer is associated with improved quality of life, mood, symptoms, and overall survival for patients, as well as cost savings. While palliative care has been shown to have numerous benefits, the impact of real-world implementation of outpatient embedded palliative care on value-based metrics is not fully understood. We sought to describe the association between outpatient embedded palliative care in a multidisciplinary thoracic oncology clinic and inpatient value-based metrics. We performed a retrospective cohort study of 215 patients being treated for advanced thoracic malignancies with non-curative intent. We evaluated the association between outpatient embedded palliative care and inpatient clinical outcomes including emergency room visits, hospitalizations, intensive care unit admissions, hospital charges, as well as hospital quality metrics including 30-day readmissions, admissions within 30 days of death, inpatient mortality, and inpatient hospital charges. Outpatient embedded palliative care was associated with lower hospital charges per day (USD 3807 vs. USD 4695, p = 0.024). Furthermore, patients who received outpatient embedded palliative care had lower hospital admissions within 30 days of death (O.R. 0.45; 95% CI 0.29, 0.68; p < 0.001) and a lower inpatient mortality rate (IRR 0.67; 95% CI 0.48, 0.95; p = 0.024). Our study further supports that outpatient palliative care is a high-value intervention and alternative models of palliative care, including one embedded into a multidisciplinary thoracic oncology clinic, is associated with improved value-based metrics.

Efficient management of industrial assets and equipment depends heavily on the selection of appropriate maintenance strategies. This research presents a dataset generated through Monte Carlo simulations to evaluate 12 key criteria relevant to maintenance strategy selection. The dataset covers a wide range of potential maintenance scenarios, providing comprehensive data for researchers to explore various strategies in industrial settings. The data were normalized and structured in a way that facilitates their use for further modeling or analysis. The dataset offers an opportunity for researchers to reproduce the data collection process, enabling comparisons with their own studies. By providing this dataset, we aim to support the development of new models for maintenance strategy selection and encourage further exploration of data-driven approaches in industrial maintenance. Additionally, the dataset can serve educational purposes, assisting in the teaching of decision-making in the context of maintenance operations.

CUORE Upgrade with Particle IDentification (CUPID) is a foreseen ton-scale array of Li2MoO4 (LMO) cryogenic calorimeters with double readout of heat and light signals. Its scientific goal is to fully explore the inverted hierarchy of neutrino masses in the search for neutrinoless double beta decay of 100Mo. Pile-up of standard double beta decay of the candidate isotope is a relevant background. We generate pile-up heat events via injection of Joule heater pulses with a programmable waveform generator in a small array of LMO crystals operated underground in the Laboratori Nazionali del Gran Sasso, Italy. This allows to label pile-up pulses and control both time difference and underlying amplitudes of individual heat pulses in the data. We present the performance of supervised learning classifiers on data and the attained pile-up rejection efficiency.

ABSTRACT: This report described the use of acoustic radiation force impulse (ARFI) elastography in the diagnosis of two cases of canine malignant peripheral nerve sheath tumors. Both patients presented with lameness in the thoracic limb and no response to previous clinical treatment or trauma history. Physical examination revealed muscular atrophy in one of the thoracic limbs, in both dogs. B-mode axillary ultrasound showed the presence of a predominantly hypoechogenic, heterogeneous, irregular, nonencapsulated nodule with adjacent reactivity, measuring approximately 20.1 mm x 15.4 mm in the first case and 18.3 mm x 10.7 mm in the second. ARFI elastography was performed, showing areas of significant stiffness, with an average shear wave velocity of 4.12 m/s (case 1) and 4.35 m/s (case 2), suggesting malignancy. In both cases, the affected limb was amputated, and the tumors sent for histopathological analysis, which were; subsequently, diagnosed as malignant tumors of the peripheral nerve sheath. The ultrasonographic methods used were essential in the diagnosis and therapeutic conduct.

Introduction: Chronic subdural hematoma is a common entity in neurosurgery. Currently, multiple therapeutic modalities are described and surgical evacuation with endoscopic support is increasingly used. Objective: To describe the surgical results of endoscopic support in patients with chronic subdural hematoma. Method: A descriptive and retrospective study was carried out, which included 31 patients, at the Hermanos Ameijeiras hospital, operated on for chronic subdural hematoma using transcranial approaches with endoscopic support. Sociodemographic, clinical, imaging, surgical and complications related to the procedure variables are described. For data analysis, absolute and relative frequencies were used. Results: The most used surgical technique was using 2 burr holes with endoscopic support (83.9 %). Total evacuation was reported in 96.8 % of patients. Postoperative complications identified (3.2 %) were: Pneumocephalus, residual hematoma, and recurrence. Conclusions: Endoscopic support in the surgical evacuation of chronic subdural hematomas constitutes a safe and effective method with a significant reduction in postoperative complications, especially in the incidence of hematoma recurrence.

Assessment is an essential component for all educational programs and must check competence acquirement while foster and promote learning. Progress Test (PT) is well recognized to assess cognitive knowledge, clinical reasoning and decision making in the clinical context, offering important information about the individual performance and program quality. It is widely used in Brazilian and international medical schools; however, it still has little role in assessing medical residents in Brazil. We present the experience of a PT pilot implementation in an Infectious Diseases residency program over two years. The first, second and third-year residents did four serial exams with 40 multiple choice questions (item)/each. Preceptors were trained on best practices on item writing. All the items were reviewed by a panel of experts and, after approval, included in the item bank. All participants answered a survey on their perceptions about the experience. The final score was higher for the third-year residents in all exam applications. The level of satisfaction was high among the participants, who mentioned the learning opportunity with the exam and the feedback. PT can improve residents’ assessment along the training period and residents’ performance should guide review and improvement of the programs.

This research focuses on the spatial distribution of Airbnb listings in Naples, examining how this phenomenon influences the urban and socioeconomic dynamics of the city. Through a detailed analysis of data collected from 2015 to 2023, the study highlights the significant impact of Airbnb on the processes of gentrification and touristification, showing how the platform has contributed to transformations in the real estate market and the social composition of neighborhoods. Using GIS techniques to map the concentration of listings, the research reveals a growing professionalization of hosts and an intensification of property use as short-term rentals, increasingly shifting the platform's use from a shared to a commercial economy. The work also proposes a reflection on the urban policies needed to mitigate the negative effects of these dynamics and promote sustainable urban tourism.

BackgroundDelay in the diagnosis of neurodevelopmental disorders (NDDs) in toddlers and postnatal depression (PND) is a major public health issue. In both cases, early intervention is crucial but too rarely implemented in practice. ObjectiveOur goal was to determine if a dedicated mobile app can improve screening of 5 NDDs (autism spectrum disorder [ASD], language delay, dyspraxia, dyslexia, and attention-deficit/hyperactivity disorder [ADHD]) and reduce PND incidence. MethodsWe performed an observational, cross-sectional, data-based study in a population of young parents in France with at least 1 child aged

Introduction: Up to 20% of EGFR-mutated NSCLC cases harbor uncommon EGFR mutations, including atypical exon 19 and compound mutations. Relatively little is known about the efficacy of osimertinib in these cases. Methods: Patients treated with first-line osimertinib for NSCLC with rare EGFR exon 19 (non E746_A750del) or compound mutations were included. Response assessment and time to progression were determined using Response Evaluation Criteria in Solid Tumors version 1.1 criteria. Kaplan-Meier analyses were used to estimate progression-free survival (PFS), time to treatment discontinuation (TTD), and overall survival (OS). Results: Thirty-seven patients with NSCLC harboring an atypical EGFR exon 19 mutation or compound mutation were treated with first-line osimertinib at Johns Hopkins from 2016 to 2021. Overall response rate (ORR) was 76% and median PFS, TTD, and OS were 13 months (95% confidence interval [CI]: 10–15), 22 months (95% CI: 17–32) and 36 months (95% CI, 29–48), respectively. Among atypical exon 19 mutations (n = 25), ORR was 80%, median PFS was 12 months (95% CI: 10–15), median TTD was 19 months (95% CI: 17–38), and median OS was 48 months (95% CI: 25–not reached). Compound mutations (n = 12) had an ORR of 67%, median PFS of 14 months (95% CI: 5–22), median TTD of 26 months (95% CI: 5–36), and median OS of 36 months (95% CI: 20–46). Twelve patients (32%) continued first-line osimertinib after local therapy for oligoprogression. Conclusions: Osimertinib exhibited favorable outcomes for rare EGFR exon 19 and compound mutations. The heterogeneity in outcomes among these groups of tumors with similar mutations underscores the need for continued reporting and further study of outcomes among rare variants to optimize management for each patient.

O objetivo da pesquisa foi investigar a construção de cenas enunciativas da campanha de cunho socioambiental mais premiada no “Festival de Cannes” em 2023, a fim de identificar e descrever os discursos midiatizados, que concorrem para a produção de cultura e valores na sociedade. Foi realizada uma análise teórico-metodológica explorando as interações entre publicidade, sustentabilidade e produção simbólica, com o foco em avaliar a trajetória das premiações em Cannes que reconhecem a publicidade como agente de transformação social e ambiental, identificando campanhas de impacto nessas áreas. O corpus foi definido pela campanha mais premiada em 2023 em Cannes relacionada à questão social e/ou ambiental, no caso “The Last Photo” (A Última Fotografia). A análise foi conduzida por intermédio de abordagem discursiva considerando elementos lexicais, técnicas argumentativas, destacabilidade e componentes externos à linguagem verbal. Os resultados do estudo demonstraram que a campanha utiliza predominantemente o discurso publicitário, especialmente o anúncio audiovisual explorando a temática social. A cenografia desempenha um papel importante na construção dessas cenas, conferindo credibilidade e emoção aos discursos. A abordagem dessa campanha desafia os estereótipos em torno do suicídio, utilizando casos reais para promover a reflexão. A estratégia transmídia e a linguagem acessível são usadas para alcançar o público de maneira eficaz.

The introduction of exotic species is currently the second largest cause of extinction. In this sense the domestic dog (Canis lupus familiaris) stands out, given its wide distribution and adaptive plasticity. Understanding the dynamics of dog occurrence in natural areas is of major importance in order to understand the impacts on native fauna. In this work, we aimed to carry out an updated survey of the presence of dogs in the Area of Relevant Ecological Interest Mata of Santa Genebra, focusing on the number of individuals, their periods and areas of greatest activity. Sampling was carried out using camera-traps on nine different trails in the area, with a sampling effort of 2754 camera-days. A total of 316 mammal records were obtained of which 28% documented the presence of dogs. The results point to greater activity of dogs in areas of extensive trails, clearings and forest edge, in addition to the preference for night periods and rainy season. The results were compared with the periods of activity of native non-flying mammals of the area, obtaining a similar occupation of places and periods, both of domestic dogs and native fauna. Finally, proposals were presented to mitigate this problem in the area.

Research on older people’s artistic participation has mainly focused on its benefits. Fewer studies have addressed the antecedents of older people’s artistic participation, especially the barriers to artistic practices, and particularly those related with contextual factors. In this study, we examined from a socioecological perspective which contextual barriers older artists perceive when they are carrying out their artistic practices. We conducted semi-structured individual interviews with 30 older visual artists and craftspeople. We found six themes relating to contextual barriers to the artistic practice: changes in cultural context; value of arts and crafts; dissemination of artistic work; financial difficulties; discrimination against women; and the covid-19 pandemic. Our study expands on previous research on antecedents of artistic participation among older people, and specifically on barriers. Finally, our study suggests the need to decrease these barriers by implementing programmes aimed at older artists maintaining their artistic practices for as long as possible.

ABSTRACT SARS-CoV-2 virus emerged as a new threat to humans and spread around the world, leaving a large death toll. As of January 2023, Brazil is among the countries with the highest number of registered deaths. Nonpharmacological and pharmacological interventions have been heterogeneously implemented in the country, which, associated with large socioeconomic differences between the country regions, has led to distinct virus spread dynamics. Here, we investigate the spatiotemporal dispersion of SARS-CoV-2 lineages in the Pernambuco state (Northeast Brazil) throughout the distinct epidemiological scenarios that unfolded in the first 2 years of the pandemic. We generated a total of 1,389 new SARS-CoV-2 genomes from June 2020 to August 2021. This sampling captured the arrival, communitary transmission, and the circulation of the B1.1, B.1.1.28, and B.1.1.33 lineages; the emergence of the former variant of interest P.2; and the emergence and fast replacement of all previous variants by the more transmissible variant of concern P.1 (Gamma). Based on the incidence and lineage spread pattern, we observed an East-to-West to inner state pattern of transmission, which is in agreement with the transmission of more populous metropolitan areas to medium- and small-size country-side cities in the state. Such transmission patterns may be partially explained by the main routes of traffic across municipalities in the state. Our results highlight that the fine-grained intrastate analysis of lineages and incidence spread can provide actionable insights for planning future nonpharmacological intervention for air-borne transmissible human pathogens.IMPORTANCEDuring the COVID-19 pandemic, Brazil was one of the most affected countries, mainly due its continental-size, socioeconomic differences among regions, and heterogeneous implementation of intervention methods. In order to investigate SARS-CoV-2 dynamics in the state of Pernambuco, we conducted a spatiotemporal dispersion study, covering the period from June 2020 to August 2021, to comprehend the dynamics of viral transmission during the first 2 years of the pandemic. Throughout this study, we were able to track three significant epidemiological waves of transmission caused by B1.1, B.1.1.28, B.1.1.33, P.2, and P.1 lineages. These analyses provided valuable insights into the evolution of the epidemiological landscape, contributing to a deeper understanding of the dynamics of virus transmission during the early years of the pandemic in the state of Pernambuco.

Background: Exposures to polyaromatic hydrocarbons (PAHs) contribute to cancer in the fire service. Fire investigators are involved in evaluations of post-fire scenes. In the US, it is estimated that there are up to 9000 fire investigators, compared to approximately 1.1 million total firefighting personnel. This exploratory study contributes initial evidence of PAH exposures sustained by this understudied group using worn silicone passive samplers. Objectives: Evaluate PAH exposures sustained by fire investigators at post-fire scenes using worn silicone passive samplers. Assess explanatory factors and health risks of PAH exposure at post-fire scenes. Methods: As part of a cross-sectional study design, silicone wristbands were distributed to 16 North Carolina fire investigators, including eight public, seven private, and one public and private. Wristbands were worn during 46 post-fire scene investigations. Fire investigators completed pre- and post-surveys providing sociodemographic, occupational, and post-fire scene characteristics. Solvent extracts from wristbands were analyzed via gas chromatography-mass spectrometry (GC-MS). Results were used to estimate vapor-phase PAH concentration in the air at post-fire scenes. Results: Fire investigations lasted an average of 148 minutes, standard deviation ± 93 minutes. A significant positive correlation (r=0.455, p