Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.

BACKGROUND: Tobacco use is one of the main risk factors for Lung Cancer (LC) development. However, about 10-20% of those diagnosed with the disease are never-smokers. For Non-Small Cell Lung Cancer (NSCLC) there are clear differences in both the clinical presentation and the tumor genomic profiles between smokers and never-smokers. For example, the Lung Adenocarcinoma (LUAD) histological subtype in never-smokers is predominately found in young women of European, North American, and Asian descent. While the clinical presentation and tumor genomic profiles of smokers have been widely examined, never-smokers are usually underrepresented, especially those of a Latin American (LA) background. In this work, we characterize, for the first time, the difference in the genomic profiles between smokers and never-smokers LC patients from Chile. METHODS: We conduct a comparison by smoking status in the frequencies of genomic alterations (GAs) including somatic mutations and structural variants (fusions) in a total of 10 clinically relevant genes, including the eight most common actionable genes for LC (EGFR, KRAS, ALK, MET, BRAF, RET, ERBB2, and ROS1) and two established driver genes for malignancies other than LC (PIK3CA and MAP2K1). Study participants were grouped as either smokers (current and former, n = 473) or never-smokers (n = 200) according to self-report tobacco use at enrollment. RESULTS: Our findings indicate a higher overall GA frequency for never-smokers compared to smokers (58 vs. 45.7, p-value < 0.01) with the genes EGFR, KRAS, and PIK3CA displaying the highest prevalence while ERBB2, RET, and ROS1 the lowest. Never-smokers present higher frequencies in seven out of the 10 genes; however, smokers harbor a more complex genomic profile. The clearest differences between groups are seen for EGFR (15.6 vs. 21.5, p-value: < 0.01), PIK3CA (6.8 vs 9.5) and ALK (3.2 vs 7.5) in favor of never-smokers, and KRAS (16.3 vs. 11.5) and MAP2K1 (6.6 vs. 3.5) in favor of smokers. Alterations in these genes are comprised almost exclusively by somatic mutations in EGFR and mainly by fusions in ALK, and only by mutations in PIK3CA, KRAS and MAP2K1. CONCLUSIONS: We found clear differences in the genomic landscape by smoking status in LUAD patients from Chile, with potential implications for clinical management in these limited-resource settings.

Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis.

Colorectal cancer (CRC) is the second leading cause of cancer deaths globally. While ethnic differences in driver gene mutations have been documented, the South American population remains understudied at the genomic level, despite facing a rising burden of CRC. We analyzed tumors of 40 Chilean CRC patients (Chp) using next-generation sequencing and compared them to data from mainly Caucasian cohorts (TCGA and MSK-IMPACT). We identified 388 mutations in 96 out of 135 genes, with TP53 (45%), KRAS (30%), PIK3CA (22.5%), ATM (20%), and POLE (20%) being the most frequently mutated. TSC2 mutations were associated with right colon cancer (44.44% in RCRC vs. 6.45% in LCRC, p-value = 0.016), and overall frequency was higher compared to TCGA (p-value = 1.847 × 10-5) and MSK-IMPACT cohorts (p-value = 3.062 × 10-2). Limited sample size restricts definitive conclusions, but our data suggest potential differences in driver mutations for Chilean patients, being that the RTK-RAS oncogenic pathway is less affected and the PI3K pathway is more altered in Chp compared to TCGA (45% vs. 25.56%, respectively). The prevalence of actionable pathways and driver mutations can guide therapeutic choices, but can also impact treatment effectiveness. Thus, these findings warrant further investigation in larger Chilean cohorts to confirm these initial observations. Understanding population-specific driver mutations can guide the development of precision medicine programs for CRC patients.

CyberKnife Stereotactic Radiosurgery for Uveal Melanoma: First Case Series in Central America.

Introduction: Uveal melanoma is the most common primary intraocular malignancy in adults, affecting primarily the choroid of the eye. Plaque brachytherapy is the most common procedure for the treatment of small choroidal melanoma, especially in posteriorly located tumors. However, modern radiotherapy techniques, such as CyberKnife or Gamma knife stereotactic radiosurgery (SRS) and proton beam radiotherapy, have shown better results in tumor control and eye retention. Recent studies have indicated that SRS is a promising non-invasive, single-session treatment option, with most studies reporting the best outcomes when using ≥21-22 Gy. However, there is no consistent protocol for managing this pathology using CyberKnife, not only in terms of dose but also fractions. Case Presentations: Here, we report the first case series of patients (n = 4, age range 38-64 years, median age 52.5 years) with choroidal UM in Central America who were treated with CyberKnife SRS (22 Gy in one session). During the follow-up (range 25-29 months, median 27.5 months), a 100% control rate with no systemic metastatic disease has been achieved. We found a statistically significant reduction in the largest basal diameter at 24 months for all tumors. However, visual acuity has progressively decreased in most patients. Notably, two of our patients developed radiation maculopathy, and the other two developed radiation retinopathy after SRS. Conclusions: Our findings suggest that future studies should evaluate the use of different prophylactic therapies to prevent the development of side effects. The clinical management of toxicities presented in our report can serve as a reference in the clinical practice of other centers. Our report supports the growing body of evidence showing that CyberKnife radiosurgery is a safe and effective therapeutic option for the treatment of UM.

A Comprehensive Analysis of the Effect of A>I(G) RNA-Editing Sites on Genotoxic Drug Response and Progression in Breast Cancer.

Dysregulated A>I(G) RNA editing, which is mainly catalyzed by ADAR1 and is a type of post-transcriptional modification, has been linked to cancer. A low response to therapy in breast cancer (BC) is a significant contributor to mortality. However, it remains unclear if there is an association between A>I(G) RNA-edited sites and sensitivity to genotoxic drugs. To address this issue, we employed a stringent bioinformatics approach to identify differentially RNA-edited sites (DESs) associated with low or high sensitivity (FDR 0.1, log2 fold change 2.5) according to the IC50 of PARP inhibitors, anthracyclines, and alkylating agents using WGS/RNA-seq data in BC cell lines. We then validated these findings in patients with basal subtype BC. These DESs are mainly located in non-coding regions, but a lesser proportion in coding regions showed predicted deleterious consequences. Notably, some of these DESs are previously reported as oncogenic variants, and in genes related to DNA damage repair, drug metabolism, gene regulation, the cell cycle, and immune response. In patients with BC, we uncovered DESs predominantly in immune response genes, and a subset with a significant association (log-rank test p < 0.05) between RNA editing level in LSR, SMPDL3B, HTRA4, and LL22NC03-80A10.6 genes, and progression-free survival. Our findings provide a landscape of RNA-edited sites that may be involved in drug response mechanisms, highlighting the value of A>I(G) RNA editing in clinical outcomes for BC.

Dual-Target Radiosurgery for Concomitant Continuous Pain Presentation of Trigeminal Neuralgia: Radiomodulation Effect and Dose.

OBJECTIVES: Patients with trigeminal neuralgia (TN) experience concomitant continuous pain (CCP) that can be difficult to treat. A dual-target approach delivering a high dose of radiation to the nerve and the contralateral thalamus can develop a fast radiomodulation effect on lowering pain. We sought to determine if this effect was dose dependent. METHODS: We retrospectively reviewed 21 patients treated with radiosurgery in CCP and severe TN pain, with a visual analog scale (VAS) score of nine out of 10 at the time of treatment. Ten patients were treated with a high dose (>120 Gy) in the thalamus 90 Gy to the nerve, and the rest with a low dose (<120 Gy) to the thalamus and >90 Gy to the nerve. RESULTS: Of those who received the high dose to the thalamus, six patients (60%) received 140 Gy, and four (40%) received 120 Gy, with a median dose to the trigeminal nerve of 90 and 85 Gy, respectively. The high thalamus dose showed a radiomodulation effect from day 1. The low thalamus dose did not produce radiomodulation on any of the first four days. The percentage of VAS score reduction one month after treatment was higher in the high-thalamus dose group than in the low-thalamus dose group. At three months, VAS score was 2 in the high-dose group and 4 in the low-dose group. CONCLUSIONS: The radiomodulation effect in pain and dual-target radiosurgery is dose dependent in CCP in TN; a high dose can provide a more consistent clinical result than a lower dose.

Tratamiento de las fracturas maxilofaciales en un hospital cubano durante la pandemia de COVID-19

Introducción: La epidemiología de las fracturas maxilofaciales varía en dependencia de los estilos de vida, el nivel cultural y el estatus socioeconómico en diferentes zonas geográficas. Objetivo: Caracterizar epidemiológica y terapéuticamente a los pacientes con fracturas maxilofaciales, atendidos en un hospital universitario cubano durante la pandemia de COVID-19. Métodos: Se realizó un estudio observacional, descriptivo y transversal a los pacientes atendidos en el Servicio de Cirugía Maxilofacial del Hospital General Universitario "Carlos Manuel de Céspedes" de Bayamo, provincia Granma, durante el 1 de enero y el 31 de diciembre de 2020. Se estudiaron variables epidemiológicas y terapéuticas. Resultados: Se incluyeron 85 pacientes con 220 fracturas. Los hombres fueron los más afectados (n = 74; 87,06 %) y la proporción hombre/mujer resultó de 6,73:1. El grupo etario de 41-60 años (n = 40; 47,06 %) sobresalió. En el 38,89 % de los casos el trauma se relacionó con violencia interpersonal. Cincuenta y cuatro pacientes (63,52 %) tuvieron fracturas del complejo cigomático. El ángulo mandibular constituyó la localización anatómica más afectada. Las fracturas mandibulares se trataron fundamentalmente mediante reducción cerrada. Conclusiones: El perfil epidemiológico de las fracturas maxilofaciales se destacó en los pacientes adultos masculinos debido, principalmente, a la violencia interpersonal. Las fracturas complejas del tercio medio facial se trataron por método abierto. La distribución temporal de los casos mostró el impacto de la COVID-19 en la epidemiología de estos traumas.

Introduction: The epidemiology of maxillofacial fractures varies according to lifestyles, cultural level and socioeconomic status in different geographical areas. Objective: To characterize epidemiologically and therapeutically the patients with maxillofacial fractures treated in a Cuban university hospital during the COVID-19 pandemic. Methods: An observational, descriptive and cross-sectional study was carried out on patients attended at the Maxillofacial Surgery Service of the General University Hospital "Carlos Manuel de Céspedes" of Bayamo, Granma province, between January 1 and December 31, 2020. Epidemiological and therapeutic variables were studied. Results: 85 patients with 220 fractures were included. Men were the most affected (n = 74; 87.06 %) and the male/female ratio was 6.73:1. The age group 41-60 years (n = 40; 47.06 %) stood out. In 38.89 % of the cases the trauma was related to interpersonal violence. Fifty-four patients (63.52 %) had fractures of the zygomatic complex. The mandibular angle was the most damaged anatomical location. Fractures were treated primarily by closed reduction. Conclusions: The epidemiological profile of maxillofacial fractures was prominent in adult male patients mainly due to interpersonal violence. Complex fractures of the midfacial third were treated by open method. The temporal distribution of the cases showed the impact of COVID-19 on the epidemiology of these traumas.

Caracterización clínica y epidemiológica de pacientes con fractura nasal atendidos en un hospital universitario cubano / Clinical and epidemiological characterization of patients with nasal fracture treated in a Cuban university hospital

Introducción: Las fracturas nasales son las más comunes de la región maxilofacial. Sin embargo, la literatura cubana sobre el tema es escasa y desactualizada, por lo que surgió la motivación para realizar esta investigación. Objetivo: Caracterizar clínica y epidemiológicamente los pacientes con fractura nasal atendidos en un hospital universitario cubano. Métodos: Se realizó un estudio observacional, descriptivo y transversal en pacientes atendidos en el Servicio de Cirugía Maxilofacial del Hospital General Universitario "Carlos Manuel de Céspedes" de Bayamo, provincia Granma, Cuba, en el período comprendido entre el 1 de enero y el 31 de diciembre del 2020. Se estudiaron variables clínicas, epidemiológicas y terapéuticas. Resultados: Se incluyeron 99 pacientes, de los cuales 74 (74,75 por ciento) fueron masculinos. En el 44,44 por ciento de los casos las edades estuvieron comprendidas entre los 21 y 40 años. Cincuenta pacientes (50,51 por ciento) tuvieron fracturas producto de la violencia interpersonal. Noventa y siete pacientes (97,98 por ciento) presentaron epistaxis. Cincuenta y nueve pacientes (59,60 por ciento) recibieron reducción cerrada asociada con taponamiento nasal y fijación externa con yeso. Conclusiones: Predominó el sexo masculino y el grupo de edades de 21 a 40 años. La principal etiología fue la violencia interpersonal. En la mayoría de los casos la epistaxis estuvo presente. Prevalecieron las fracturas cerradas, así como las que tuvieron el dorso desviado lateralmente(AU)

Introduction: Nasal fractures are the most common fractures of the maxillofacial region. However, Cuban literature on the subject is scarce and outdated, so the motivation for this research arose. Objective: To characterize patients with nasal fractures treated in a Cuban university hospital in a clinical and epidemiological manner. Methods: An observational, descriptive and cross-sectional study was carried out in patients treated at the Maxillofacial Surgery Service of the University General Hospital. "Carlos Manuel de Céspedes" of Bayamo, Granma province, Cuba, from January 1 to December 31, 2020. Clinical, epidemiological and therapeutic variables were studied. Results: 99 patients were included, of whom 74 (74.75 percent) were male. In 44.44 percent of the cases the ages were between 21 and 40 years. Fifty patients (50.51 percent) had fractures resulting from interpersonal violence. Ninety-seven patients (97.98 percent) presented epistaxis. Fifty-nine patients (59.60 percent) received closed reduction associated with nasal packing and external fixation with plaster cast. Conclusions: Male gender and age group 21 to 40 years predominated. The main etiology was interpersonal violence. Epistaxis was present in most cases. Closed fractures prevailed, as well as those with laterally deviated dorsum(AU)

Impact of the COVID-19 on the epidemiology of maxillofacial fractures surgically treated in a Cuban university hospital / Impacto del COVID-19 en la epidemiología de las fracturas maxilofaciales tratadas quirúrgicamente en un hospital universitario cubano

Introduction: COVID-19 pandemic has had a significant impact on people's behavior. Aim: To evaluate the impact of the COVID-19 on the epidemiology of maxillofacial fractures surgically treated in a Cuban university hospital. Methods: This research involved a 4-year descriptive, comparative, retrospective and cross-sectional study. Patients surgically treated between March 1 and December 31, 2020 (COVID-19 period) were compared with those who had undergone surgery between the same date in the years 2017-2019 (non-pandemic period). Age, sex, residence, year, month, alcohol consumption at the time of trauma, etiology, fractures types, and number of fractures per patient were recorded. Results: A decline in patients with maxillofacial fractures in 2020 (n=25) was observed when compared to equivalent periods in the three previous years (2017: n=37; 2018: n=31; 2019: n=41), respectively, with an annual average reduction of 31.19 percent. Interpersonal violence was found to be the paramount etiological factor for maxillofacial fractures during the comparison periods (2017-2019); however, road traffic accident prevailed in the 2020 (n=12; 48 percent). There was a small increase in the number of alcohol-related fractures (56 percent in 2020 vs 46.34 percent, 41.94 percent, and 51.35 percent in 2019, 2018, and 2017, respectively). Conclusion: COVID-19 impacted on the epidemiology maxillofacial fractures surgically treated in this Cuban university hospital (AU)

Introducción: La pandemia de la COVID-19 ha tenido un impacto significativo en el comportamiento de la población. Objetivo: Evaluar el impacto de la COVID-19 en la epidemiología de las fracturas maxilofaciales tratadas quirúrgicamente en un hospital universitario cubano. Métodos: Esta investigación consistió en un estudio descriptivo, comparativo, retrospectivo y transversal de 4 años de duración. Se compararon los pacientes intervenidos quirúrgicamente entre el 1 de marzo y el 31 de diciembre de 2020 (periodo COVID-19) con los intervenidos entre la misma fecha en los años 2017-2019 (periodo no pandémico). Se registraron edad, sexo, residencia, año, mes, consumo de alcohol en el momento del traumatismo, etiología, tipos de fracturas y número de fracturas por paciente. Resultados: Se observó un descenso de pacientes con fracturas maxilofaciales en 2020 (n=25) en comparación con periodos equivalentes de los tres años anteriores (2017: n=37; 2018: n=31; 2019: n=41), respectivamente, con una reducción media anual del 31,19 poe ciento. Se observó que la violencia interpersonal fue el factor etiológico primordial de las fracturas maxilofaciales durante los periodos de comparación (2017-2019); sin embargo, el accidente de tráfico prevaleció en el 2020 (n=12; 48 por ciento). Hubo un pequeño aumento en el número de fracturas relacionadas con el alcohol (56 por ciento en 2020 frente a 46,34 por ciento, 41,94 por ciento y 51,35 por ciento en 2019, 2018 y 2017, respectivamente). Conclusiones: La COVID-19 impactó en la epidemiología de fracturas maxilofaciales atendidas quirúrgicamente en este hospital universitario cubano (AU)

Caracterización de las fracturas nasales atendidas en el servicio de urgencias de cirugía maxilofacial de Bayamo / Characterization of nasal fractures treated in the maxillofacial surgery emergency service of Bayamo / Caracterização de fraturas nasais tratadas no pronto-socorro de cirurgia maxilofacial de Bayamo

RESUMEN La fractura nasal es la más frecuente entre las fracturas de los huesos faciales, pudiendo generar alteraciones estéticas importantes y a su vez determinar cambios en la funcionalidad, tratarlas de forma inmediata evita complicaciones al paciente. Con el objetivo de caracterizar las fracturas nasales atendidas en el servicio de urgencias de cirugía maxilofacial del hospital "Carlos Manuel de Céspedes" se realizó un estudio observacional descriptivo que incluyó todos los pacientes (105) que fueron atendidos ambulatoriamente con diagnóstico de fractura nasal reciente en el servicio de urgencias en el período de enero 2018 a diciembre del 2019. Las variables estudiadas fueron edad, sexo, procedencia, factores etiológicos, signos clínicos, clasificación según desplazamiento, exposición del foco de fractura y dirección del trauma. Se confeccionó una planilla de recolección de datos. Se emplearon números enteros, porcentajes y tablas estadísticas. Se siguieron los principios éticos para la investigación en humanos. La población más afectada se encontró entre los 20 y 29 años de edad, de procedencia urbana y del sexo masculino. Se encontró asociación entre el sexo y los factores etiológicos, predominando las agresiones físicas en hombres y las caídas casuales en mujeres. El principal signo clínico presente en los pacientes fue la epistaxis. Las fracturas nasales desplazadas, con desviaciones laterales y cerradas predominaron en ambos sexos.

ABSTRACT The nasal fracture is the most frequent among the fractures of the facial bones, being able to generate important aesthetic alterations and in turn determine changes in functionality, treating them immediately avoids complications for the patient. In order to characterize the nasal fractures treated in the maxillofacial surgery emergency service of the "Carlos Manuel de Céspedes" hospital, a descriptive observational study was carried out that included all the patients (105) who were seen outpatiently with a diagnosis of recent nasal fracture in the emergency department in the period from January 2018 to December 2019. The variables studied were age, sex, origin, etiological factors, clinical signs, classification according to displacement, exposure of the fracture site and direction of the trauma. A data collection sheet was prepared. Whole numbers, percentages and statistical tables were used. Ethical principles for human research were followed. The most affected population was between 20 and 29 years of age, of urban origin and male. An association was found between sex and etiological factors, predominantly physical aggression in men and accidental falls in women. The main clinical sign present in the patients was epistaxis. Displaced nasal fractures with lateral and closed deviations predominated in both sexes.

RESUMO A fratura nasal é a mais frequente entre as fraturas dos ossos faciais, sendo capaz de gerar alterações estéticas importantes e, por sua vez, determinar alterações na funcionalidade, tratando-as imediatamente evita complicações para o paciente. Com o objetivo de caracterizar as fraturas nasais atendidas no pronto-socorro de cirurgia maxilofacial do hospital Carlos Manuel de Céspedes, foi realizado um estudo observacional descritivo que incluiu todos os pacientes (105) que foram atendidos ambulatorialmente com diagnóstico de fratura nasal recente no pronto-socorro no período de janeiro de 2018 a dezembro de 2019. As variáveis estudadas foram idade, sexo, origem, fatores etiológicos, sinais clínicos, classificação segundo deslocamento, exposição do foco da fratura e direção do trauma. Um formulário de coleta de dados foi preparado. Foram utilizados números completos, percentuais e tabelas estatísticas. Foram seguidos princípios éticos para a pesquisa humana. A população mais afetada foi entre 20 e 29 anos, de origem urbana e do sexo masculino. Foi encontrada associação entre sexo e fatores etiológicos, com aagressão física predominante em homens e quedas casuais nas mulheres. O principal sinal clínico presente nos pacientes foi a epistaxe. Fraturas nasais deslocadas, com desvios laterais e fechados predominaram em ambos os sexos.

Características clínicas, epidemiológicas y terapéuticas de pacientes con carcinoma epidermoide de cavidad bucal / Clinical, epidemiological and therapeutic characteristics of patients with oral cavity squamous cell carcinoma

RESUMEN Introducción: La región de la cabeza y el cuello es una de las áreas más complejas del cuerpo y el carcinoma epidermoide es la neoplasia maligna más frecuente en esta localización. Objetivo: Caracterizar, desde el punto de vista clínico, epidemiológico y terapéutico, los pacientes con carcinoma epidermoide de cavidad bucal. Métodos: Estudio observacional, descriptivo y transversal en pacientes tratados en un servicio de cirugía maxilofacial entre el 1 de enero de 2018 y el 31 de diciembre de 2020. Se analizaron variables clínicas, epidemiológicas y terapéuticas. La información se obtuvo mediante la entrevista y el examen clínico. Como medidas de resumen se utilizaron frecuencias absolutas y porcentajes. Resultados: Se estudiaron 29 pacientes, con predominio del sexo masculino (69,0 %). La edad media fue de 60,3 años (rango entre 41 y 80 años). La lengua fue la región anatómica más afectada (34,5 %) y la úlcera hundida o infiltrante la variante clínica de mayor presentación (27,6 %). El 48,3 % de las neoplasias fueron diferenciadas histológicamente. El 65,5 % de los diagnósticos se realizó en estadios avanzados de la enfermedad (etapas III y IV). Los tratamientos más utilizados fueron la cirugía (31,0 %) y la combinación de quimioterapia más radioterapia (27,6 %). Conclusión: Predominan los pacientes masculinos, las lesiones linguales, de aspecto ulcerado y diferenciadas histológicamente. La modalidad terapéutica más utilizada fue la cirugía.

ABSTRACT Introduction: Head and neck region is one of the more complex areas of the body and the squamous cell carcinoma is the most frequent malignant neoplasm in this location. Objective: To characterize, from a clinic, epidemiologic and therapeutic point of view, patients with squamous cell carcinoma of the oral cavity. Methods: Observational, descriptive and cross-sectional study with patients treated in maxillofacial surgery service between January 1, 2018 and December 31, 2020. Clinic, epidemiologic and therapeutic variables were analyzed. The information was obtained through interview and clinical examination. Absolute frequencies and percentages were used as summary measures. Results: Twenty-nine (29) patients, with a predominance of males (69.0 %), were studied. Mean age was 12 years (range between 41 and 80 years). The tongue was the most affected anatomical region (34.5 %) and the sunken or infiltrating ulcer was the most common clinical variant (27.6 %); 48.3 % of the neoplasms were differentiated histologically. 65.5 % of the diagnoses were made in advanced stages of the disease (stages III and IV). The most used treatments were surgery (31.0 %) and the combination of chemotherapy plus radiotherapy (27.6 %). Conclusion: Male patients, lingual lesions, ulcerated appearance and histologically differentiated predominated. The most used therapeutic modality was surgery.

Influence of home/school environments on children's obesity, diet, and physical activity: the SUECO study protocol / Impacto del entorno residencial/escolar en la obesidad, la dieta y la actividad física en población infantil: protocolo del estudio SUECO

Objective: The SUECO study examines the relationship between urban obesogenic environments and health outcomes among school-age children in the city of Madrid, Spain. We will study how features of the urban environment (related to the food- and the physical activity environment) associate with children's anthropometrics, eating habits, and physical activity levels. Method: We describe the study protocol of this multilevel study in a representative sample of school-age children in the city of Madrid (2017; n=5,961 children ages 3-12). Main outcome variables include anthropometrics (body mass index, waist circumference, and body fat), healthy and unhealthy consumption measures, and physical activity measures. The primary explanatory variables are grouped into food environment (e.g., unhealthy food retailers' density) and physical activity environment (e.g., walkability, physical activity opportunities) variable categories. Multilevel models will be used to calculate the associations between each indicator and obesity and physical inactivity. (AU)

Objetivo: El estudio SUECO evaluará la relación entre el entorno urbano obesogénico y los resultados en salud en la población infantil escolarizada en Madrid. El estudio explorará cómo influyen las características del entorno urbano (relacionadas con la alimentación y con la actividad física) en las variables antropométricas, los hábitos alimentarios y la actividad física. Método: Se presenta el protocolo de este estudio multinivel, realizado con una muestra representativa de población infantil escolarizada en la ciudad de Madrid (2017; n=5961 escolares de 3 a 12 años). Las principales variables de resultado incluyen antropometría (índice de masa corporal, circunferencia de cintura y porcentaje de grasa corporal), hábitos alimentarios (saludables y no saludables) y actividad física. Las principales variables independientes son contextuales (del entorno alimentario y del entorno de actividad física). Se utilizarán modelos de regresión multinivel para evaluar las asociaciones entre cada indicador contextual, la obesidad y la inactividad física. (AU)

Caracterización de las fracturas nasales atendidas en el servicio de urgencias de cirugía maxilofacial de Bayamo / Characterization of nasal fractures treated in the maxillofacial surgery emergency service of Bayamo

La fractura nasal es la más frecuente entre las fracturas de los huesos faciales, pudiendo generar alteraciones estéticas importantes y a su vez determinar cambios en la funcionalidad, tratarlas de forma inmediata evita complicaciones al paciente. Con el objetivo de caracterizar las fracturas nasales atendidas en el servicio de urgencias de cirugía maxilofacial del Hospital Carlos Manuel de Céspedes se realizó un estudio observacional descriptivo que incluyó todos los pacientes (105) que fueron atendidos ambulatoriamente con diagnóstico de fractura nasal reciente en el servicio de urgencias en el período de enero 2018 a diciembre del 2019. Las variables estudiadas fueron edad, sexo, procedencia, factores etiológicos, signos clínicos, clasificación según desplazamiento, exposición del foco de fractura y dirección del trauma. Se confeccionó una planilla de recolección de datos. Se emplearon números enteros, porcentajes y tablas estadísticas. Se siguieron los principios éticos para la investigación en humanos. La población más afectada se encontró entre los 20 y 29 años de edad, de procedencia urbana y del sexo masculino. Se encontró asociación entre el sexo y los factores etiológicos, predominando las agresiones físicas en hombres y las caídas casuales en mujeres. El principal signo clínico presente en los pacientes fue la epistaxis. Las fracturas nasales desplazadas, con desviaciones laterales y cerradas predominaron en ambos sexos(AU)

The nasal fracture is the most frequent among the fractures of the facial bones, being able to generate important aesthetic alterations and in turn determine changes in functionality, treating them immediately avoids complications for the patient. In order to characterize the nasal fractures treated in the maxillofacial surgery emergency service of the Carlos Manuel de Céspedes hospital, a descriptive observational study was carried out that included all the patients (105) who were seen outpatiently with a diagnosis of recent nasal fracture in the emergency department in the period from January 2018 to December 2019. The variables studied were age, sex, origin, etiological factors, clinical signs, classification according to displacement, exposure ofthe fracture site and direction of the trauma. A data collection sheet was prepared. Whole numbers, percentages and statistical tables were used. Ethical principles for human research were followed. The most affected population was between 20 and 29 years of age, of urban origin and male. An association was found between sex and etiological factors, predominantly physical aggression in men and accidental falls inwomen. The main clinical sign present in the patients was epistaxis. Displaced nasal fractures with lateral and closed deviations predominated in both sexes(EU)

Comparación dosimétrica en radiocirugía intracraneal entre Cyberknife y un bisturí de rayos gamma y su puesta en marcha Centroamérica / Dosimetric comparison in intracranial radiosurgery between Cyberknife and a gamma knife and its implementation Central America

Introducción: La dupla Cyberknife y bisturí de rayos gamma (Infini) que se describe es la primera en Latinoamérica. Ambas máquinas han mostrado ser los mejores equipos para radiocirugía intracraneal. Se describe la experiencia inicial de Cyberknife en Centroamérica y su incorporación a un programa existente de bisturí de rayos gamma por vía de análisis comparativos dosimétricos. Material y método: En el año 2019 se realizaron planes comparativos y se trataron 180 pacientes con radiocirugía intracraneal con ambos sistemas tanto en patología tumoral, como vascular y funcional. Resultados: En el análisis dosimétrico comparativo en el gradiente de dosis de Infini mostró ser superior a Cyberknife en todos los casos. Para una esfera utilizando el colimador de 4 mm en Infini y de 5 mm en Cyberknife utilizando un plan isocéntrico con el -Trigeminal Path- el gradiente de dosis para Infini fue de 1.5 y para Cyberknife de 1.66. Para los casos de patología el gradiente de dosis media para Infini fue de 3 mm y para Cyberknife de 3.8 mm. Dando un puntaje de gradiente de dosis (Gradient Score Index) si Infini fuese de 100, Cyberknife obtuvo 87.3. Cyberknife mostró mejor conformalidad y cobertura (97% versus 96%) para todos los targets. Entre enero 2019 y enero 2020 se realizaron 180 radiocirugías, 60 con Cyberknife y 120 con Infini, 60 pacientes recibieron 146 sesiones con Cyberknife, radiocirugía fraccionada 39 (65%) y 21 (35%) en sesión única. Las dosis medias en tumores en dosis única fue 15 Gy (12.5 a 25 Gy) y en radiocirugía fraccionada 21 Gy (18 y 35). Ningún paciente ha experimentado toxicidad mayor a grado dos. Conclusiones: El bisturí de rayos gamma rotatorio reveló superioridad en gradiente de dosis con relación al Cyberknife. En su primer año Cyberknife ha mostrado ser una herramienta segura en el tratamiento de patología intracraneal. Más seguimiento clínico y radiológico es necesario para verificar su efectividad comparativa

Introduction: The match between Cyberknife and Infini here described in this article is the first in Latinamerica. Both machines have proven to be the best for intracranial radiosurgery, we describe our initial experience with Cyberknife in Central America and how it was incorporated in an existing gamma ray program by ways of dosimetry comparisons. Methods: During 2019 comparative plans were made and a total of 180 patients received intracranial radiosurgery with both technologies, patients were treated for tumors, vascular anomalies, and functional pathology. Results: Basic dosimetry analysis regarding dose gradient the Infini proved superior to Cyberknife in all plans. For a sphere using the 4 mm collimator in Infini and the 5 mm in Cyberknife along with an isocentric plan using the -Trigeminal Path- dose gradient was 1.5 for Infini and 1.66 for Cyberknife. For the pathology cases Infini was 3 mm and for Cyberknife 3.8 mm on mean. Giving a Gradient Score Index (GSI) if Infini would be 100, Cyberknife would be 87.3. Cyberknife showed better conformality and coverage for all pathology targets (97% versus 96%). From January 2019 to January 2020, 180 intracranial radiosurgeries were done, 60 with Cyberknife and 120 with Infini, 60 patients received 146 sessions with Cyberknife, fractionated scheme 39 (65%) and 21 (35%) single dose. The median dose for tumors was 15 Gy (12.5 a 25 Gy) for single session and 21 Gy (18 y 35) for fractionated scheme. No patient experienced a higher toxicity tan grade two. Conclusions: In its first year Cyberknife has shown to be safe in treating intracranial pathology. Infini had a better dose gradient than Cyberknife. Longer clinical and radiological follow-up is needed to verify its comparative effectiveness.

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components

BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.

Incidencia de la patología genitourinaria en urgencias / Incidence of genitourinary pathology in the emergency department

Objetivo: El aumento de la presión asistencial de los servicios de urgencias hospitalarios obliga a conocer las características de los pacientes y de los procesos por los que acuden. Este estudio es el primero que calcula tiempo de permanencia en urgencias y factores que se relacionan de manera independiente con ingreso hospitalario. Métodos: Estudio descriptivo y retrospectivo de 2.741 pacientes que acudieron a Urgencias por sintomatología genitourinaria en el año 2011. Se examinaron rasgos clínicos y epidemiológicos. Se realizó un análisis multivariable para conocer los factores relacionados con la resolución final de los pacientes, recurrencia en la asistencia a urgencias y tiempo en urgencias. Resultados: La mayoría de pacientes fueron varones (60,3%), con diagnósticos de hematuria, RAO y patología genital. Las mujeres, presentaron pielonefritis, ITU y dolor lumbar de manera más frecuente. Los varones ingresaron en mayor proporción. La edad, el diagnóstico de infección/sepsis o dolor lumbar y un nivel MTS amarillo o naranja, resultaron ser factores independientes de ingreso. Tanto en el estudio univariable como multivariable, la edad mayor de 60 años (311 vs 220 min), los diagnósticos relacionados con ITU y sepsis (300 vs 250 min) y el ingreso hospitalario como resolución final (440 vs 240 min) influyeron de forma significativa en el tiempo de estancia en Urgencias. Conclusiones: La edad > 60 años, el resultado de ingreso y el diagnóstico de infección/sepsis fueron factores independientes de mayor tiempo en Urgencias. La presencia de dolor persistente y de infección/sepsis se comportaron como factores independientes de ingreso

Objective: The increase of healthcare pressure in Emergency Departments compels us to have a better understanding of patients' characteristics and the pathology they consult for. This is the first study that estimates the waiting time in the emergency room and the factors that are independently related with hospital admission. Methods: Descriptive and retrospective study of 2.741 patients who were admitted to the Emergency Department with genitourinary symptoms in 2011. Clinical and epidemiological features were reviewed. A multivariable study was performed to identify the factors related with the final resolution of patients, recurrence in emergency attendance, and waiting time in the emergency room. Results: Most of the patients were male (60.3%), being diagnosed with hematuria, acute urinary retention and genital pathology. Females complained more frequently for pyelonephritis, urinary tract infection and low-back pain. Male were hospitalized in greater proportion. Age, diagnosis of infection/sepsis or low-back pain, and yellow or orange MTS level were independent features for hospital admission. Also, in the univariate and multivariate study, age > 60 years (311 vs 220 min.), UTI/sepsis related diagnoses (300 vs 250 min.), and hospital admission as final resolution (440 vs 240 min.) had a significant influence in the waiting time in the Emergency Department. Conclusions: Age over 60 years, hospital admission as final resolution and infection/sepsis diagnosis were independent features for further waiting time in the Emergency Department. Persistent pain and symptoms of infection/sepsis behaved as independent features for hospital admission

ADAR1-mediated RNA-editing of 3'UTRs in breast cancer

BACKGROUND: Whole transcriptome RNA variant analyses have shown that adenosine deaminases acting on RNA ( ADAR ) enzymes modify a large proportion of cellular RNAs, contributing to transcriptome diversity and cancer evolution. Despite the advances in the understanding of ADAR function in breast cancer, ADAR RNA editing functional consequences are not fully addressed. RESULTS: We characterized A to G(I) mRNA editing in 81 breast cell lines, showing increased editing at 3'UTR and exonic regions in breast cancer cells compared to immortalized non-malignant cell lines. In addition, tumors from the BRCA TCGA cohort show a 24% increase in editing over normal breast samples when looking at 571 well-characterized UTRs targeted by ADAR1. Basal-like subtype breast cancer patients with high level of ADAR1 mRNA expression shows a worse clinical outcome and increased editing in their 3'UTRs. Interestingly, editing was particularly increased in the 3'UTRs of ATM, GINS4 and POLH transcripts in tumors, which correlated with their mRNA expression. We confirmed the role of ADAR1 in this regulation using a shRNA in a breast cancer cell line (ZR-75-1). CONCLUSIONS: Altogether, these results revealed a significant association between the mRNA editing in genes related to cancer-relevant pathways and clinical outcomes, suggesting an important role of ADAR1 expression and function in breast cancer.

La atención farmacéutica comunitaria en pacientes incluidos en programas de cuidados paliativos. Revisión bibliográfica / Community pharmaceutical care in patients in palliative care programs

OBJETIVO: Identificar y conocer qué rol o papel representa el farmacéutico comunitario en la atención a los pacientes y familia al final de la vida, dentro de los planes y programas de cuidados paliativos (CP) en el ámbito nacional, autonómico e internacional. MATERIAL Y MÉTODOS: Revisión bibliográfica de la literatura científica, en inglés o español, a través de los buscadores Pubmed, Google Académico y web del SACYL Biblioteca virtual, plataforma de editoriales de revistas electrónicas (Editorial Elsevier y Elsevier Doyma), la web del PORTALFARMA (Revista del farmacéutico, Panorama actual del medicamento y Pliegos de rebotica) y Cochrane.completando la revisión con la lectura de los distintos planes o programas de CP a nivel nacional y autonómico. Resultado: En los países de habla inglesa (Reino Unido, Australia, EE. UU. , etc. ), se ha comenzado a valorar la intervención del farmacéutico comunitario como farmacéutico colaborador o dentro de un equipo interdisciplinar de CP, a través de su inclusión en guías, documentos de consenso o programas piloto. No se ha encontrado ningún estudio que recoja la intervención del farmacéutico comunitario en la prestación de CP en nuestro país. Tan solo los planes de CP de la comunidad de Madrid y de la región de Murcia recogen la intervención del farmacéutico aunque de forma muy general, poco específica y sin referencia concreta al farmacéutico de oficina de farmacia o farmacia comunitaria. CONCLUSIONES: En España existen programas de atención a pacientes crónicos en los que interviene el farmacéutico comunitario, pero no hay ninguna referencia con relación al paciente con enfermedad avanzada o terminal. Se podría afirmar que los profesionales farmacéuticos comunitarios, con relación a la prestación de servicios asistenciales al paciente terminal y su familia, han quedado fuera del sistema y eso, a pesar de que se ha llegado a afirmar que los CP son «cosa de todos». La integración del farmacéutico comunitario en la atención a los pacientes en CP formando parte de un equipo interdisciplinar o como «farmacéutico colaborador» debería ser un recurso a tener en cuenta y valorar

OBJECTIVES: To identify and determine the role or function the community pharmacist as regards terminal patients and their families within the palliative-care (PC) plans and programmes on a national, regional and international scale. MATERIALS AND METHODS: A review was made of the scientific literature in English and Spanish, through the web search engines, PubMed, Google Scholar, and the SACYL online virtual Library website, network of publishing companies with electronic journals (Elsevier publishing house and Elsevier Doyma), PORTALFARMA website (Pharmacist Journal, Present-day Medicament Scene and Pharmacy Specifications), and the Cochrane Library. The review is concluded with the description of a variety of plans and/or programmes on PC at regional, national and international level. RESULTS: In the English-speaking countries (such as the United Kingdom, Australia, and the United States), it has been started to assess the community pharmacist's contribution as a collaborator or within an interdisciplinary team by means of their inclusion in handbooks, consensus documents, or pilot programmes. No research has been found so far that includes the community pharmacist's contribution in providing PC on a nationwide scale. Only in the Autonomous region of Madrid and the Region of Murcia do PC Plans include the pharmacist's contribution, although, in a very general and vague way. CONCLUSIONS: There are some programmes implemented in our country for chronic patients with input of the community pharmacist, but there is no reference to patients suffering from advanced or terminal disease. It could be stated that professional community pharmacists have been left out of the system as regards the provision of welfare services to terminal patients and their families, although it has been asserted that PC is "everybody's concern". The integration of the community pharmacist in patient care in PC, forming part of an interdisciplinary team, or as a 'collaborator pharmacist', should be an option to be taken into account and assessed

Max Weber na sociologia Argentina (1930-1950) / Max Weber in Argentine sociology (1930-1950)

The thinking of Max Weber became known in the Argentina academic community in the years preceding the first translations of his General Economic History and Economy and Society into Spanish, published by Fondo de Cultura Económica in 1942 and 1944, respectively. The first Argentine references to Weber's work appear in the early 1930s in an intellectual context marked by the revolt against Positivism and the spread of German thinking in general and German sociological thinking in particular. Throughout that period, sociology was an emerging field and sociologists faced the task of justifying their practice and approaches. Nevertheless, there were different views of the discipline, each of which articulating a specific interpretation of Weber's thinking.