Live music stimulates the affective brain and emotionally entrains listeners in real time.

Music is powerful in conveying emotions and triggering affective brain mechanisms. Affective brain responses in previous studies were however rather inconsistent, potentially because of the non-adaptive nature of recorded music used so far. Live music instead can be dynamic and adaptive and is often modulated in response to audience feedback to maximize emotional responses in listeners. Here, we introduce a setup for studying emotional responses to live music in a closed-loop neurofeedback setup. This setup linked live performances by musicians to neural processing in listeners, with listeners' amygdala activity was displayed to musicians in real time. Brain activity was measured using functional MRI, and especially amygdala activity was quantified in real time for the neurofeedback signal. Live pleasant and unpleasant piano music performed in response to amygdala neurofeedback from listeners was acoustically very different from comparable recorded music and elicited significantly higher and more consistent amygdala activity. Higher activity was also found in a broader neural network for emotion processing during live compared to recorded music. This finding included observations of the predominance for aversive coding in the ventral striatum while listening to unpleasant music, and involvement of the thalamic pulvinar nucleus, presumably for regulating attentional and cortical flow mechanisms. Live music also stimulated a dense functional neural network with the amygdala as a central node influencing other brain systems. Finally, only live music showed a strong and positive coupling between features of the musical performance and brain activity in listeners pointing to real-time and dynamic entrainment processes.

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Phenylketonuria (PKU) is a genetic disorder caused by variations in the phenylalanine hydroxylase (PAH) gene. Among the 3369 reported PAH variants, 33.7% are missense alterations. Unfortunately, 30% of these missense variants are classified as variants of unknown significance (VUS), posing challenges for genetic risk assessment. In our study, we focused on analyzing 836 missense PAH variants following the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines specified by ClinGen PAH Variant Curation Expert Panel (VCEP) criteria. We utilized and compared variant annotator tools like Franklin and Varsome, conducted 3D structural analysis of PAH, and examined active and regulatory site hotspots. In addition, we assessed potential splicing effect of apparent missense variants. By evaluating phenotype data from 22962 PKU patients, our aim was to reassess the pathogenicity of missense variants. Our comprehensive approach successfully reclassified 309 VUSs out of 836 missense variants as likely pathogenic or pathogenic (37%), upgraded 370 likely pathogenic variants to pathogenic, and reclassified one previously considered likely benign variant as likely pathogenic. Phenotypic information was available for 636 missense variants, with 441 undergoing 3D structural analysis and active site hotspot identification for 180 variants. After our analysis, only 6% of missense variants were classified as VUSs, and three of them (c.23A>C/p.Asn8Thr, c.59_60delinsCC/p.Gln20Pro, and c.278A >T/p.Asn93Ile) may be influenced by abnormal splicing. Moreover, a pathogenic variant (c.168G>T/p.Glu56Asp) was identified to have a risk exceeding 98% for modifications of the consensus splice site, with high scores indicating a donor loss of 0.94. The integration of ACMG/AMP guidelines with in silico structural analysis and phenotypic data significantly reduced the number of missense VUSs, providing a strong basis for genetic counseling and emphasizing the importance of metabolic phenotype information in variant curation. This study also sheds light on the current landscape of PAH variants.

Mullus barbatus L. and Mullus surmuletus L. from western Mediterranean waters (SE Spain) are infected by Hysterothylacium fabri, but not by zoonotic nematodes. Possible impact on fish hosts.

In order to know whether there is a risk of anisakiasis (or anisakidosis) by consumption of fish of the genus Mullus from the western Mediterranean Sea, which are appreciated for their quality, an epidemiological survey was carried out to evaluate the occurrence of zoonotic or potentially zoonotic nematodes in M. barbatus and M. surmuletus. Although the presence of the third larval stage (L3) of anisakids (Anisakis and Contracaecum) has been previously described in these fish, the results showed the absence of anisakids and the presence, never in muscle, of L3 and L4 of raphidascaridids of the genus Hysterothylacium, molecularly identified as H. fabri. Phylogenetic analysis groups them into the Mediterranean Sea clade, far from individuals isolated in the Pacific Ocean. Prevalence was slightly higher, but not significant, in M. barbatus versus M. surmuletus (72.3% vs 60.0%), but mean intensity (MI) and mean abundance (MA) parameters were approximately twice as high in M. barbatus as in M. surmuletus (MI 5.8 vs 2.8, p = .001; MA 4.2 vs 1.7, p < .001). The presence of the parasite seems to have different effects on these two sympatric species. In M. barbatus it seems to affect their growth, as it appreciably reduces the value of allometry coefficient in infected fish (2.78 vs. 2.18). On the other hand, in M. surmuletus the infection significantly (p < .04) affects the Fulton's condition factor, an indicator of the health status of the fish. It can be concluded that the ingestion of these fish by the people poses negligible risk of anisakiasis, but the consumer should continue to be urged to follow the rules of prevention against this illness.

Impact of a mindfulness-based intervention on neurobehavioral functioning and its association with large-scale brain networks in preterm young adolescents.

AIM: Adolescents born very preterm (VPT; <32 weeks of gestation) face an elevated risk of executive, behavioral, and socioemotional difficulties. Evidence suggests beneficial effects of mindfulness-based intervention (MBI) on these abilities. This study seeks to investigate the association between the effects of MBI on executive, behavioral, and socioemotional functioning and reliable changes in large-scale brain networks dynamics during rest in VPT young adolescents who completed an 8-week MBI program. METHODS: Neurobehavioral assessments and resting-state functional magnetic resonance imaging were performed before and after MBI in 32 VPT young adolescents. Neurobehavioral abilities in VPT participants were compared with full-term controls. In the VPT group, dynamic functional connectivity was extracted by using the innovation-driven coactivation patterns framework. The reliable change index was used to quantify change after MBI. A multivariate data-driven approach was used to explore associations between MBI-related changes on neurobehavioral measures and temporal brain dynamics. RESULTS: Compared with term-born controls, VPT adolescents showed reduced executive and socioemotional functioning before MBI. After MBI, a significant improvement was observed for all measures that were previously reduced in the VPT group. The increase in executive functioning, only, was associated with reliable changes in the duration of activation of large-scale brain networks, including frontolimbic, amygdala-hippocampus, dorsolateral prefrontal, and visual networks. CONCLUSION: The improvement in executive functioning after an MBI was associated with reliable changes in large-scale brain network dynamics during rest. These changes encompassed frontolimbic, amygdala-hippocampus, dorsolateral prefrontal, and visual networks that are related to different executive processes including self-regulation, attentional control, and attentional awareness of relevant sensory stimuli.

The Importance of Emotional Intelligence in Social Work Students and Its Relation to Perceived Efficacy.

Social workers have a greater than average risk of suffering burnout syndrome. In the same way as the professionals, students too can suffer academic burnout. However, few empirical studies have studied burnout and protective factors in social work students exclusively. Emotional intelligence (EI) has been described as a protective factor for burnout both in the professional and the academic context. The present study aims to explore which components of EI predict the burnout domains in students studying a degree in social work, in Spain. To this end, 87 social work students completed a questionnaire in which information was gathered on EI, burnout, average grade in the degree, and sociodemographic variables. The regression analysis results indicate that the students with poorer academic success and from higher years reported greater symptoms of burnout. Regarding the components of EI, emotional clarity and emotional repair predict the academic efficacy perceived by the students. These results highlight the importance of including EI in academic policies to promote the design of EI training programs aimed at developing EI skills, particularly emotional clarity and emotional repair, as a way of improving the perception of efficacy in social work students.

Effects of Dalcroze Eurhythmics Exercise Versus Multicomponent Exercise on Physical and Cognitive Function, and Falls in Older Adults: The EPHYCOS Randomized Controlled Trial.

Currently, robust evidence is lacking to support one exercise type over another in the prevention of physical and cognitive decline and falls among older adults, primarily because of the lack of comparative trials of proven interventions. Therefore, a 12-month randomized, single-blind, comparative effectiveness trial is conducted, in which 142 older adults at high risk for falls are randomized (1:1) to receive an evidence-based Dalcroze Eurhythmics (DE) exercise program (once weekly, group-based) or an evidence-based multicomponent (MULTI) exercise program incorporating balance, functional, and strength training activities (twice weekly, group- and home-based), for 12 months. The primary outcome is gait variability under dual-task at 12 months. At 12 months, the DE group has significant improvements compared with MULTI group on gait under both dual-task (adjusted ß for stride variability: -2.3, 95%CI, -3.1 to -1.4; p < 0.001) and single-task, and on a variety of secondary physical and cognitive/executive function outcomes. The adjusted hazard ratio for falls is 0.58 (95%CI, 0.37 to 0.93) for the DE group compared with MULTI group. In conclusion, DE exercise is more effective than MULTI exercise in improving physical and cognitive function and reducing falls in older adults. The mechanisms underlying DE exercise-induced benefits remain to be fully elucidated.

Enhancing ASD detection accuracy: a combined approach of machine learning and deep learning models with natural language processing.

Purpose: The main aim of our study was to explore the utility of artificial intelligence (AI) in diagnosing autism spectrum disorder (ASD). The study primarily focused on using machine learning (ML) and deep learning (DL) models to detect ASD potential cases by analyzing text inputs, especially from social media platforms like Twitter. This is to overcome the ongoing challenges in ASD diagnosis, such as the requirement for specialized professionals and extensive resources. Timely identification, particularly in children, is essential to provide immediate intervention and support, thereby improving the quality of life for affected individuals. Methods: We employed natural language processing (NLP) techniques along with ML models like decision trees, extreme gradient boosting (XGB), k-nearest neighbors algorithm (KNN), and DL models such as recurrent neural networks (RNN), long short-term memory (LSTM), bidirectional long short-term memory (Bi-LSTM), bidirectional encoder representations from transformers (BERT and BERTweet). We extracted a dataset of 404,627 tweets from Twitter users using the platform's API and classified them based on whether they were written by individuals claiming to have ASD (ASD users) or by those without ASD (non-ASD users). From this dataset, we used a subset of 90,000 tweets (45,000 from each classification group) for the training and testing of these models. Results: The application of our AI models yielded promising results, with the predictive model reaching an accuracy of almost 88% when classifying texts that potentially originated from individuals with ASD. Conclusion: Our research demonstrated the potential of using AI, particularly DL models, in enhancing the accuracy of ASD detection and diagnosis. This innovative approach signifies the critical role AI can play in advancing early diagnostic techniques, enabling better patient outcomes and underlining the importance of early identification of ASD, especially in children.

Biological Sample Collection to Advance Research and Treatment: A Fight Osteosarcoma Through European Research and Euro Ewing Consortium Statement.

Osteosarcoma and Ewing sarcoma are bone tumors mostly diagnosed in children, adolescents, and young adults. Despite multimodal therapy, morbidity is high and survival rates remain low, especially in the metastatic disease setting. Trials investigating targeted therapies and immunotherapies have not been groundbreaking. Better understanding of biological subgroups, the role of the tumor immune microenvironment, factors that promote metastasis, and clinical biomarkers of prognosis and drug response are required to make progress. A prerequisite to achieve desired success is a thorough, systematic, and clinically linked biological analysis of patient samples, but disease rarity and tissue processing challenges such as logistics and infrastructure have contributed to a lack of relevant samples for clinical care and research. There is a need for a Europe-wide framework to be implemented for the adequate and minimal sampling, processing, storage, and analysis of patient samples. Two international panels of scientists, clinicians, and patient and parent advocates have formed the Fight Osteosarcoma Through European Research consortium and the Euro Ewing Consortium. The consortia shared their expertise and institutional practices to formulate new guidelines. We report new reference standards for adequate and minimally required sampling (time points, diagnostic samples, and liquid biopsy tubes), handling, and biobanking to enable advanced biological studies in bone sarcoma. We describe standards for analysis and annotation to drive collaboration and data harmonization with practical, legal, and ethical considerations. This position paper provides comprehensive guidelines that should become the new standards of care that will accelerate scientific progress, promote collaboration, and improve outcomes.

CRISPR-Cas9 Engineered Extracellular Vesicles for the Treatment of Dominant Progressive Hearing Loss.

Clinical translation of gene therapy has been challenging, due to limitations in current delivery vehicles such as traditional viral vectors. Herein, we report the use of gRNA:Cas9 ribonucleoprotein (RNP) complexes engineered extracellular vesicles (EVs) for in vivo gene therapy. By leveraging a novel high-throughput microfluidic droplet-based electroporation system (µDES), we achieved 10-fold enhancement of loading efficiency and more than 1000-fold increase in processing throughput on loading RNP complexes into EVs (RNP-EVs), compared with conventional bulk electroporation. The flow-through droplets serve as enormous bioreactors for offering millisecond pulsed, low-voltage electroporation in a continuous-flow and scalable manner, which minimizes the Joule heating influence and surface alteration to retain natural EV stability and integrity. In the Shaker-1 mouse model of dominant progressive hearing loss, we demonstrated the effective delivery of RNP-EVs into inner ear hair cells, with a clear reduction of Myo7ash1 mRNA expression compared to RNP-loaded lipid-like nanoparticles (RNP-LNPs), leading to significant hearing recovery measured by auditory brainstem responses (ABR).

Anorexia nerviosa, microbiota y cerebro

La anorexia nerviosa (AN) es una enfermedad psiquiátrica, con elevada prevalencia y comorbilidades, caracterizada por una baja tasa de respuestaal tratamiento. Se considera una enfermedad multifactorial. En los últimos años se ha puesto el foco en la presencia de disbiosis intestinal ysu posible implicación como factor causal, así como alternativa de tratamiento. El objetivo de este trabajo ha sido revisar el estado actual delconocimiento de las alteraciones en la microbiota intestinal identificadas en pacientes con AN y la posibilidad del uso de probióticos como alternativa terapéutica. Se han descrito importantes cambios en la diversidad de las especies asociadas a la pérdida de peso que podrían contribuira perpetuar el trastorno y que explicarían muchas de las alteraciones nutricionales, gastrointestinales, psicológicas y cognitivas presentes enestos pacientes. El uso de probióticos, poco estudiado aún en pacientes con AN, abre una nueva ventana para mejorar la respuesta, siempre dela mano de los tratamientos convencionales. (AU)

Anorexia nervosa (AN) is a psychiatric disease with a high prevalence and comorbidities, characterized by a low response rate to treatment.It is considered as a multifactorial disease. In recent years, the focus has been placed on the presence of intestinal dysbiosis and its possibleinvolvement as a causal factor as well as an alternative treatment. The objective of this work has been to review the current state of knowledge ofalterations in the intestinal microbiota identified in patients with AN and the possibility of using probiotics as a therapeutic alternative. Significantchanges in the diversity of species associated with weight loss have been described that could favor the perpetuation of the disorder, and that wouldexplain many of the nutritional, gastrointestinal, psychological, and cognitive alterations present in these patients. The use of probiotics, still littlestudied in patients with AN, sheds some light on this matter to improve the treatment response, always hand in hand with conventional treatments. (AU)

Construcciones de juventud y trayectorias militantes católicas contemporáneas en parroquias del Gran Buenos Aires / Constructions of youth and contemporary militant trajectories in parishes in Gran Buenos Aires (Argentina) / Construções juvenis e trajetórias militantes contemporâneas nas paróquias da grande Buenos Aires (Argentina)

Resumen (analítico) El artículo analiza las construcciones de juventud presentes en la Acción Católica Argentina y sus vínculos con trayectorias de jóvenes militantes insertos en parroquias del Gran Buenos Aires. Para el abordaje metodológico cualitativo se utilizan los siguientes materiales de campo, producidos entre 2016 y 2018: entrevistas en profundidad realizadas a jóvenes católicos, registros de observación participante en parroquias y eventos nacionales de Acción Católica Argentina y análisis de documentos institucionales. Dentro de la Acción Católica Argentina, se identifican tensiones entre las definiciones de juventud producidas por la institución y las trayectorias juveniles. Los jóvenes experimentan modos de «ser¼ y de «vivir¼ la juventud distintos a los propuestos por la Acción Católica Argentina, acordes con los cambios sociales y culturales que se produjeron en Argentina en las últimas décadas.

Abstract (analytical) This article analyzes the constructions of youth produced in the Acción Católica Argentina (Argentinian Catholic Action) organization and their link with the trajectories of militant youth living in parishes of Gran Buenos Aires. Field materials produced between 2016 and 2018 are analyzed using a qualitative methodological approach that consists of: in-depth interviews with Catholic youth; participant observation records from parish and national Argentinian Catholic Action events; and the analysis of institutional documents. In Argentinian Catholic Action, tensions were identified between the definitions of youth produced by the institution and young people's own trajectories. Young people experience ways of «being¼ and «living¼ that are different from those proposed by the Argentinian Catholic Action and that respond to the social and cultural changes produced in Argentine society in recent decades.

Resumo (analítico) O artigo analisa as construções de jovens presentes na Acción Católica Argentina seus vínculos com as trajetórias de jovens militantes inseridos nas paróquias da Gran Buenos Aires. Para a abordagem metodológica qualitativo, são utilizados materiais de campo produzidos entre 2016 e 2018, que consistem em entrevistas em profundidade com jovens católicos; registros de observação participante nas paróquias e eventos nacionais da Acción Católica Argentina e análise de documentos institucionais. Na Acción Católica Argentina, são identificadas tensões entre as definições de juventude produzidas pela instituição e as trajetórias da juventude. Os jovens experimentam maneiras de «ser¼ e «viver¼ a juventude diferentes dos propostos pela Acción Católica Argentina de acordo com as mudanças sociais e culturais produzidas na Argentina nas últimas décadas.

Metas lipídicas en pacientes diabéticos. Implicaciones clínicas luego de aplicar una nueva fórmula para el cálculo del colesterol-LDL / Lipid Goals in Diabetic Patients. Clinical Implications after Application of a New Formula for LDL-cholesterol Calculation

RESUMEN Introducción: Existen claras recomendaciones para el manejo lipídico en los diabéticos. Una nueva fórmula para el cálculo del C-LDL mejoraría la imprecisión de la fórmula de Friedewald. Objetivos: Analizar el uso de estatinas y el cumplimiento de las metas lipídicas en pacientes diabéticos, evaluando las consecuencias de aplicar una nueva fórmula para el cálculo del C-LDL. Métodos: Estudio descriptivo, transversal y multicéntrico. Se incluyeron diabéticos tipo 2 mayores de 18 años. El C-LDL se calculó con la fórmula clásica (Friedewald) y la nueva fórmula. Se siguieron las recomendaciones del documento de posición para el uso adecuado de estatinas (Sociedad Argentina de Cardiología). Resultados: Se incluyeron 528 pacientes. En prevención secundaria, el 77,2% recibió estatinas (23,4% alta intensidad). El 36,6% y el 36,0% alcanzaron la meta de C-LDL menor a 70 mg/dL y de C-noHDL inferior a 100 mg/dL, respectivamente. El 20,8% de los pacientes con un C-LDL menor de 70 mg/dL (Friedewald) salió de meta al aplicar la nueva fórmula. En los pacientes en prevención primaria con factores de riesgo o daño de órgano blanco, el 62,2% recibió estatinas (14,7% alta intensidad). El 20,9% y el 20,4% alcanzaron la meta de C-LDL menor a 70 mg/dL y de C-noHDL inferior a 100 mg/dL. El 27,7% de los pacientes con un C-LDL menor de 70 mg/dL (Friedewald) salió de meta al aplicar la nueva fórmula. A mayor nivel de triglicéridos, más pacientes salieron de meta de C-LDL con la nueva fórmula. Conclusión: El cumplimiento de las metas lipídicas y el uso adecuado de estatinas en esta población fue deficiente. Aplicar la nueva fórmula de C-LDL optimizó la evaluación de estos pacientes.

ABSTRACT Background: There are clear recommendations for lipid management in diabetic patients. A new formula for the calculation of LDL-cholesterol (LDL-C) would improve the inaccuracy of the Friedewald formula. Objectives: The aim of this study was to analyze the use of statins and the fulfillment of lipid goals in diabetic patients, evaluating the consequences of applying a new formula for LDL-C calculation. Methods: This was a descriptive, cross-sectional, multicenter study including type 2 diabetic patients over 18 years of age. LDL-C was calculated using the classic Friedewald formula and the new formula. Recommendations of the position document for the appropriate use of statins from the Argentine Society of Cardiology were followed. Results: A total of 528 patients were included in the study. In secondary prevention, 77.2% of patients received statins (23.4% high-intensity statins) and 36.6% and 36.0% of these patients achieved the goals of LDL-C below 70% mg/dl and non-HDL-C below 100 mg/dl, respectively. In 20.8% of patients with LDL-C below 70 mg/dl according to the Friedewald formula, this goal was not attained when the new formula was applied. In primary prevention, 62.2% patients with risk factors or white organ damage received statins (14.7% high-intensity statins) and 20.9% and 20.4% achieved the goals of LDL-C below 70% mg/dl and non-HDL-C below 100 mg/dl. In 27.7% of patients with LDL-C below 70 mg/dl using the Friedewald formula, this goal was not reached when applying the new formula. More patients did not achieve the LDL-C goal with the new formula when the triglyceride level was higher. Conclusion: In this population, the appropriate use of statins and the fulfillment of lipid goals were poor. Applying the new LDL-C formula optimized the evaluation of these patients.

"Somos cuerpo, alma y espíritu": Persona, enfermedad y procesos de sanación y exorcismo en el catolicismo contemporáneo en Argentina / "We are body, soul and spirit": Person, disease and processes of healing and exorcism in contemporary Catholicism in Argentina

RESUMEN En la intersección entre religión y salud, las demandas de sanación, liberación y exorcismo expresan malestares indefinidos que van desde afecciones físicas y psiquiátricas hasta problemas psicológicos y relacionales. Para comprender esta demanda creciente, este estudio se propone analizar, por un lado, las concepciones de persona y enfermedad y, por otro, las terapéuticas que los sacerdotes y sus asistentes ponen en funcionamiento, a partir de una investigación etnográfica con observación participante y entrevistas en profundidad realizadas entre 2013 y 2017 en parroquias de la ciudad de La Plata y otras localidades de la provincia de Buenos Aires. Los resultados nos permiten comprender que la concepción de persona -sobre la cual se desarrollan las terapéuticas- supone un ensanchamiento del individuo hacia los planos físico, psicológico y espiritual, y que las nociones de enfermedad y bienestar abarcan a la persona, a su entorno y a las generaciones pasadas.

ABSTRACT At the intersection of religion and health, demands for healing, liberation and exorcism express undefined discomforts that span from physical and psychiatric conditions to relational and psychological problems. To understand this growing demand in the population, this study seeks to analyze, on the one hand, the underlying conceptions of person and disease and, on the other, the therapeutics that priests and their assistants put into action, based on an ethnographic study with participant observation and in-depth interviews carried out between 2013 and 2017 in parishes in the city of La Plata and other localities of the province of Buenos Aires. The results enable us to understand that the conception of person based upon which therapeutic actions are carried out involves an expansion of the individual to the physical, psychological and spiritual planes, and that the notions of disease and wellbeing include the person, their environment and past generations.

Neurofibroma cervicodorsal en una niña con neurofibromatosis tipo 1 / Cervical dorsal neurofibroma in a girl with neurofibromatosis type 1 neurofibroma / Neurofibroma cervicodorsal em uma criança com neurofibromatose tipo 1

La neurofibromatosis es el síndrome neurocutáneo más frecuente, una enfermedad hereditaria con afectación multisistémica. Se distinguen tres formas clínicas de la enfermedad; la neurofibromatosis tipo 1 (NF-1) es la más frecuente. A las lesiones cutáneas, presentes en la mayoría de los casos, se pueden asociar tumores en cualquier localización. Los neurofibromas son característicos de la NF-1. El objetivo de esta comunicación es describir una complicación poco frecuente de la NF-1 que representa un desafío terapéutico debido a la topografía y frecuencia de recidivas. Se trata de una niña de 3 años con NF-1 con síntomas de mielopatía multisegmentaria de instalación progresiva de dos meses de evolución. La imagenología evidenció una tumoración cérvico-dorsal con compresión medular. La exéresis tumoral permitió confirmar neurofibroma intradural, extramedular. Los neurofibromas plexiformes se caracterizan por su comportamiento infiltrativo y diseminación paraespinal extensa. La resección de estas lesiones genera habitualmente morbilidad asociada al compromiso de estructuras críticas extraespinales y dificulta su resección completa tal como ocurrió en el caso clínico presentado. Se destaca la importancia de realizar un correcto seguimiento clínico y eventualmente imagenológico de los pacientes con NF-1 para detectar y abordar oportunamente los tumores, su complicación más importante.

Neurofibromatosis is one of the most frequent neurocutaneous syndrome. It is an inherited diseasewhich affects multiple systems. Three clinical presentations of the disease can be distinguished being type 1 neurofibromatosis the most common. Tumors at any body location can be associated to the usually presented cutaneous lesions. Neurofibromas are characteristic of type 1 neurofibromatosis. The aim of this study is to describe a less frequent complication of the disease which represents a therapeutic challenge due to its topography and frequency of recurrences. This is the case of a 3 year-old girl with type 1 neurofibromatosis with symptoms of multisegmental myelopathy. A cervical-dorsal tumor with medullary compression was shown in medical imaging. Tumor extraction allowed to confirm intradural, extramedullary neurofibroma. Plexiform neurofibromas are characterized by their infiltrative behavior and extensive paraspinal dissemination. Resection of these lesions usually generates morbidity associated with the involvement of extra-spinal critical structures and hinders their complete resection as occurred in the presented clinical case. It is important to perform a correct clinical and eventually imaging follow-up of patients with NF-1 to detect and treat tumors, its most important complication.

Neurofibromatose é a syndrome neurocutânea mais freqüente, uma doença hereditária com envolvimento multissistêmico. Três formas clínicas da doença são distinguidas. A neurofibromatose tipo 1 (NF-1) é a mais freqüente. As lesões cutâneas, presentes na maioria dos casos, podem ser associadas a tumores em qualquer localização. Neurofibromas são característicos de NF-1. O objetivo desta comunicação é descrever uma complicação rara de NF-1 que representa um desafio terapêutico devido à topografia e freqüência de recidivas. Trata-se de uma menina de 3 anos com NF-1 com sintomas de mielopatia multisegmentar de instalação progressiva de dois meses de evolução. A imagem mostrou um tumor cérvico-dorsal com compressão da medula espinhal. A excisão do tumor permitiu confirmar neurofibroma intradural, extramedular. Os neurofibromes plexiformes são caracterizados pelo seu comportamento infiltrativo e sua disseminação paraspinal extensa. A ressecção dessas lesões geralmente gera morbidade associada ao envolvimento de estruturas críticas extra-espinhais e dificulta sua ressecção completa, como ocorreu no caso clínico apresentado. Destaca-se a importância de realizar um acompanhamento clínico e, eventualmente, de imagens de pacientes com NF-1 para detectar e tratar oportunamente os tumores, sua complicação mais importante.

Dificultades en la alimentación de niños sanos en Montevideo-Uruguay / Feeding difficulties in healthy children, in Montevideo, Uruguay

Introduction. Feeding difficulties is a perception that the child not feds correctly. It is a common concern of young children caregivers. Objective. To define characteristics of 1 to 5 years, users of public and private Montevideo institutions children with feeding difficulties and identify associated variables. Subjects and Methods. Healthy children between 1 and 5 years were included. They were questioned if they had feeding difficulties. Personal history, features food and nutritional status were. Results. 205 children were included; 42,4% had feeding difficulties. These children did not have more pathological antecedents, or alterations in nutritional status, they were more distracting during the meal, received more rewards and punishments to feed and were fed by their mothers in a greater proportion. Conclusions. Feeding difficulties prevalence was similar to the reported in other studies. They were identified as association factors specific characteristics of the food environment and behavior adult responsible.

Introducción: Se denomina dificultad alimentaria a la percepción de que el niño no se alimenta adecuadamente. Es una preocupación frecuente de los cuidadores de niños pequeños. Objetivo: definir las características de niños entre 1 y 5 años, usuarios de instituciones públicas y privadas de Montevideo, con dificultades alimentarias, e identificar variables asociadas. Sujetos y métodos: Se incluyeron en el estudio niños sanos entre 1 y 5 años de edad. Se interrogó si presentaban dificultad alimentaria. Se registraron los antecedentes personales, características de la alimentación y estado nutricional. Se compararon estas variables entre niños con y sin dificultades alimentarias. Resultados: Se incluyeron 205 niños; 42,4% presentaba dificultades alimentarias. Estos niños no presentaban más antecedentes patológicos, ni alteraciones del estado nutricional, tenían más distractores durante la comida, recibían más premios y castigos por alimentarse y eran alimentados por sus madres en una mayor proporción. Conclusiones: La prevalencia de dificultades en la alimentación fue similar a la reportada en otros estudios. Se detectaron como factores de asociación determinadas características del ambiente donde se desarrollaba la comida y de la conducta del adulto responsable.

Tratamiento con tiosulfato de sodio tópico en calcifilaxia de paciente con trasplante renal activo / Treatment with sodium thiosulfate in calciphylaxis of topical active renal transplant patient

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Diagnóstico de Enfermería: dolor crónico. Análisis crítico de sus características definitorias / Nursing diagnosis: chronic pain. Critical analysis of its defining characteristics

OBJETIVO: análisis crítico de las características definitorias propuestas en el Diagnóstico de Enfermería [00133] Dolor Crónico, según la taxonomía NANDA. MÉTODO: revisión narrativa de las características definitorias del diagnóstico y su relación con el mismo. Se llevó a cabo una búsqueda bibliográfica en diferentes bases de datos: Cinahl, Pubmed, Cuiden, Scopus, Dialnet y Scielo. Se usaron los descriptores: "chronic pain", "diagnosis" y "nursing". La búsqueda se limitó a publicaciones de los últimos cinco años, en español e inglés. RESULTADOS: el dolor crónico es un problema de salud pública mundial que persiste durante un periodo superior a tres meses. El dolor crónico se considera no solo como un síntoma sino como una enfermedad asociada a alteraciones en el ámbito físico, psicológico, emocional, laboral, social y sexual. Con respecto al aspecto psicológico y emocional prevalece la depresión, la ansiedad y el miedo, lo que en el plano físico puede conllevar a una discapacidad. Las características definitorias del diagnóstico de Enfermería dolor crónico encontradas fueron: "Alteración en la habilidad para continuar con las actividades previas", "Cambios en el patrón del sueño", "Atención centrada en el yo", "Anorexia", "Informes, autoinformes y listas de verificación como características definitorias del diagnóstico". CONCLUSIONES: es necesario revisar las características definitorias de "alteración en la habilidad para continuar con las actividades previas" y "anorexia" al no haber encontrado evidencias de que estas sean realmente características que identifiquen este diagnóstico. Valorar la inclusión de "miedo al dolor" con el fin de ayudar a identificar más fácilmente este diagnóstico

OBJECTIVE: a critical analysis of the defining characteristics described in the Nursing Diagnosis [00133] Chronic Pain, according to the NANDA taxonomy. METHOD: a narrative review of the defining characteristics of the diagnosis and their relationship with it. A bibliographic search was conducted in different databases: Cinahl, Pubmed, Cuiden, Scopus, Dialnet and Scielo. The following keywords were used: "chronic pain", "diagnosis" and "nursing". The search was limited to publications within the past five years, in Spanish and English. RESULTS: chronic pain is a global public health problem which persists during a period over three months. Chronic pain is not only considered a symptom but a disease, associated with alterations in the physical, psychological, emotional, occupational, social and sexual settings. In terms of the psychological and emotional aspect, there is a prevalence of depression, anxiety and fear, which can lead to disability. The defining characteristics found in the Chronic Pain Nursing Diagnosis were: "Altered ability to continue previous activities", "Changes in Sleep Pattern", "Self-focused", "Anorexia", "Reports, self-reports and check-lists as defining characteristics of diagnosis". CONCLUSIONS: it is necessary to review the characteristics defining "Altered ability to continue previous activities" and "Anorexia", because no evidence was found that these were really characteristics identifying this diagnosis. The inclusion of "Fear of Pain" must be assessed, with the aim to help to identify this diagnosis more easily

Medicina familiar y comunitaria y la enfermedad pulmonar obstructiva crónica / Family and community medicine and chronic obstructive pulmonary disease

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¿Los estudios de prevalencia de zona básica de salud tienen sentido en medicina familiar y comunitaria? A propósito de un caso: la enfermedad pulmonar obstructiva crónica / Are health district prevalence studies useful in family practice? Report of a case: Chronic obstructive pulmonary disease

OBJETIVO: Determinar la prevalencia de EPOC y tabaquismo en nuestra Zona Básica de Salud (ZBS) y su correlación con la prevalencia extrapolada y la morbilidad registrada. Conocer el perfil personal, familiar y social. Determinar la validez del test de función pulmonar. DISEÑO: Estudio de prevalencia. Emplazamiento: ZBS urbana. PARTICIPANTES: Docientas treinta y tres personas de 40 a 75 años seleccionadas aleatoriamente. MEDICIONES PRINCIPALES: Edad, sexo, paquetes/año, espirometría, pulsioximetría, medicación, ingresos. Tests: Fagerstrõm, Richmond, MOS, APGAR y función pulmonar. RESULTADOS: Edad media: 53,7 ± 7,6 años; 57,9% mujeres. EPOC: morbilidad registrada 1,2% (0,5-3,9%). Prevalencia: 4,7% (1,5% mujeres, 9,2% hombres); prevalencia extrapolada: 10,2%. Tabaquismo: morbilidad registrada: 10,7% (1-19,4%); prevalencia: 18,5% (20% mujeres, 16,3% hombres); prevalencia extrapolada: 23,95%. Test de función pulmonar: cociente de probabilidad positivo: 3,18, y negativo: 0,1. Alta probabilidad de EPOC (59,5%) si > 30 paquetes/año. Los fumadores fuman como media 20,8 paquetes/año. Dependencia física más alta en mujeres (36% versus 21,4%). Mayor probabilidad de deshabituación tabáquica en hombres (57,1% versus 44%). El 14,7% percibe disfunción familiar. El 6,9% tienen bajo apoyo social y el 9,1% en EPOC. El 70% de los pacientes EPOC nunca han ingresado. El 10% son polimedicados versus el 60% de los EPOC. CONCLUSIONES: Las prevalencias de EPOC y de tabaquismo (indicador de morbilidad evitable imputable a atención primaria) son sustancialmente inferiores a las prevalencias extrapoladas. El test de función pulmonar es válido. La variablidad interprofesional es elevada. Las mujeres fuman más, tienen más dependencia y menos motivación para el abandono. Su percepción familiar y social es peor. Estas investigaciones son fundamentales para la intervención comunitaria y la planificación operativa

OBJECTIVE: To determine the prevalence of COPD and smoking in a Health District, to correlate real, registered, and extrapolated morbidity. To determine personal, family and social profiles. To determine the validity of the lung function questionnaire. DESIGN: Prevalence study. Location Urban District Health. PARTICIPANTS: Random selection of 233 people aged 40-75 years. MAIN MEASUREMENTS: Age, sex, pack/years, spirometry, pulse-oximetry, medication, income. Tests: Fagerstrõm, Richmond, MOS, APGAR, and lung function. RESULTS: Mean age was 53.7 + 7.6 years, with 57.9% women. Registered morbidity for COPD 1.2% (0.5-3.9%). Prevalence 4.7% (1.5% female, 9.2% male), extrapolated prevalence: 10.2%. Registered morbidity for Smoking 10.7% (1-19.4%); prevalence: 18.5% (20% female, 16.3% male), extrapolated prevalence 23.95%. Lung function questionnaire: positive likelihood ratio 3.18; negative 0.1. High probability of COPD (59.5%) in > 30 packs/year smokers. Smokers consume a mean of 20.8 packs/year. Women showed higher physical dependence (36% versus 21%). More probability of achieving successful smoking cessation in men (57.1% versus 44%). There was 14.7% perceived family dysfunction; 6.9% have a low global index of social support, and 9.1% in COPD subjects. More than two-thirds (70%) of COPD patients had never been hospitalized. There were 10% polymedicated patients compared to 60% in identified COPDs. CONCLUSIONS: Prevalence of COPD and smoking (indicator of avoidable morbidity attributable to primary care) are substantially lower than the reference data. The lung function questionnaire is valid. There was evidence of inter-professional variability. Women smoke more, are more dependent and are less motivated to quit. Their family and social perception is worse. These investigations are essentials for community intervention and operational planning