Exploring the Relationship between MicroRNAs, Intratumoral Microbiota, and Breast Cancer Progression in Patients with and without Metastasis.

Breast cancer (BC) continues to pose a significant burden on global cancer-related morbidity and mortality, primarily driven by metastasis. However, the combined influence of microRNAs (miRNAs) and intratumoral microbiota on BC metastasis remains largely unexplored. In this study, we aimed to elucidate the interplay between intratumoral microbiota composition, miRNA expression profiles, and their collective influence on metastasis development in BC patients by employing 16S rRNA sequencing and qPCR methodologies. Our findings revealed an increase in the expression of miR-149-5p, miR-20b-5p, and miR-342-5p in metastatic breast cancer (Met-BC) patients. The Met-BC patients exhibited heightened microbial richness and diversity, primarily attributed to diverse pathogenic bacteria. Taxonomic analysis identified several pathogenic and pro-inflammatory species enriched in Met-BC, contrasting with non-metastatic breast cancer (NonMet-BC) patients, which displayed an enrichment in potential probiotic and anti-inflammatory species. Notably, we identified and verified a baseline prognostic signature for metastasis in BC patients, with its clinical relevance further validated by its impact on overall survival. In conclusion, the observed disparities in miRNA expression and species-level bacterial abundance suggest their involvement in BC progression. The development of a prognostic signature holds promise for metastasis risk assessment, paving the way for personalized interventions and improved clinical outcomes in BC patients.

Insecticidal activity of two organic extracts from Libidibia coriaria (Jacq.) Schltdl. fruits against Spodoptera frugiperda J. E. Smith.

This study describes the chemical characterisation of two extracts (ethyl acetate, EtOAc-E and hexanic, Hx-E) from Libidibia coriaria fruits and their insecticidal properties on Spodoptera frugiperda. The HPLC analysis in EtOAct-E revealed the presence of ellagic acid and phenolic compounds. The CG-MS analysis in Hx-E revealed the presence of Hexadecanoic acid, 11-Methylheptacosane, Dodecanoic acid and Nonacosane as major compounds. The application of both extracts was performed on the dorsal part of each larva via aspersion. The larval mortality, relative growth and emergence percentage of adults were evaluated. The Hx-E caused a 93.33% mortality at 100 mg/mL at 24 h post-application. A minor relative growth with both EtOAc-E (12.64 mg) and Hx-E (7.90 mg) was observed compared with their respective negative controls (methanol = 25.05 mg and tween20 = 24.53 mg). The lowest emergence percentage of adults with the Hx-E (25%) at 50 mg/mL was observed. Libidibia coriaria fruits exhibit insecticidal properties against S. frugiperda.

Prevalence of anterior uveitis in cases of systemic inflammatory response syndrome in dogs and cats.

OBJECTIVE: To determine the prevalence of anterior uveitis in dogs and cats hospitalized with a diagnosis of systemic inflammatory response syndrome (SIRS). ANIMALS STUDIED: Dogs and cats hospitalized between May 2020 and January 2021 were prospectively included. PROCEDURES: Patients were categorized into two different groups: The first group included patients diagnosed with SIRS, and the second group included patients hospitalized without SIRS as a control group. Daily physical and ophthalmological examinations were conducted during hospitalization. Diagnosis of anterior uveitis was made based on the presence of aqueous flare, low intraocular pressure, and other associated ocular signs such as episcleral injection and miosis. A multinomial logistic regression analysis was conducted to investigate factors associated with SIRS and anterior uveitis development. RESULTS: The study comprised 42 patients with SIRS and 26 patients without SIRS. Among those with SIRS, 38% developed anterior uveitis, whereas only 7.7% of patients without SIRS showed signs of anterior uveitis. The prevalence of uveitis was significantly higher in animals with SIRS compared to those without SIRS (p < .05). CONCLUSION: Anterior uveitis is more prevalent in patients with SIRS than patients without SIRS. Therefore, complete ophthalmic examination is recommended in all patients presenting with this syndrome.

Serum GFAP levels correlate with astrocyte reactivity, post-mortem brain atrophy and neurofibrillary tangles.

Glial fibrillary acidic protein (GFAP), a proxy of astrocyte reactivity, has been proposed as biomarker of Alzheimer's disease. However, there is limited information about the correlation between blood biomarkers and post-mortem neuropathology. In a single-centre prospective clinicopathological cohort of 139 dementia patients, for which the time-frame between GFAP level determination and neuropathological assessment was exceptionally short (on average 139 days), we analysed this biomarker, measured at three time points, in relation to proxies of disease progression such as cognitive decline and brain weight. Most importantly, we investigated the use of blood GFAP to detect the neuropathological hallmarks of Alzheimer's disease, while accounting for potential influences of the most frequent brain co-pathologies. The main findings demonstrated an association between serum GFAP level and post-mortem tau pathology (ß = 12.85; P < 0.001) that was independent of amyloid deposits (ß = 13.23; P = 0.02). A mediation analysis provided additional support for the role of astrocytic activation as a link between amyloid and tau pathology in Alzheimer's disease. Furthermore, a negative correlation was observed between pre-mortem serum GFAP and brain weight at post-mortem (r = -0.35; P < 0.001). This finding, together with evidence of a negative correlation with cognitive assessments (r = -0.27; P = 0.005), supports the role of GFAP as a biomarker for disease monitoring, even in the late phases of Alzheimer's disease. Moreover, the diagnostic performance of GFAP in advanced dementia patients was explored, and its discriminative power (area under the receiver operator characteristic curve at baseline = 0.91) in differentiating neuropathologically-confirmed Alzheimer's disease dementias from non-Alzheimer's disease dementias was determined, despite the challenging scenario of advanced age and frequent co-pathologies in these patients. Independently of Alzheimer's disease, serum GFAP levels were shown to be associated with two other pathologies targeting the temporal lobes-hippocampal sclerosis (ß = 3.64; P = 0.03) and argyrophilic grain disease (ß = -6.11; P = 0.02). Finally, serum GFAP levels were revealed to be correlated with astrocyte reactivity, using the brain GFAP-immunostained area as a proxy (ρ = 0.21; P = 0.02). Our results contribute to increasing evidence suggesting a role for blood GFAP as an Alzheimer's disease biomarker, and the findings offer mechanistic insights into the relationship between blood GFAP and Alzheimer's disease neuropathology, highlighting its ties with tau burden. Moreover, the data highlighting an independent association between serum GFAP levels and other neuropathological lesions provide information for clinicians to consider when interpreting test results. The longitudinal design and correlation with post-mortem data reinforce the robustness of our findings. However, studies correlating blood biomarkers and neuropathological assessments are still scant, and further research is needed to replicate and validate these results in diverse populations.

Plasma Cell-free RNA Signatures of Inflammatory Syndromes in Children.

Inflammatory syndromes, including those caused by infection, are a major cause of hospital admissions among children and are often misdiagnosed because of a lack of advanced molecular diagnostic tools. In this study, we explored the utility of circulating cell-free RNA (cfRNA) in plasma as an analyte for the differential diagnosis and characterization of pediatric inflammatory syndromes. We profiled cfRNA in 370 plasma samples from pediatric patients with a range of inflammatory conditions, including Kawasaki disease (KD), Multisystem Inflammatory Syndrome in Children (MIS-C), viral infections and bacterial infections. We developed machine learning models based on these cfRNA profiles, which effectively differentiated KD from MIS-C - two conditions presenting with overlapping symptoms - with high performance (Test Area Under the Curve (AUC) = 0.97). We further extended this methodology into a multiclass machine learning framework that achieved 81% accuracy in distinguishing among KD, MIS-C, viral, and bacterial infections. We further demonstrated that cfRNA profiles can be used to quantify injury to specific tissues and organs, including the liver, heart, endothelium, nervous system, and the upper respiratory tract. Overall, this study identified cfRNA as a versatile analyte for the differential diagnosis and characterization of a wide range of pediatric inflammatory syndromes.

Melatonin and Its Role in the Epithelial-to-Mesenchymal Transition (EMT) in Cancer.

The epithelial-to-mesenchymal transition (EMT) is a cell-biological program that occurs during the progression of several physiological processes and that can also take place during pathological situations such as carcinogenesis. The EMT program consists of the sequential activation of a number of intracellular signaling pathways aimed at driving epithelial cells toward the acquisition of a series of intermediate phenotypic states arrayed along the epithelial-mesenchymal axis. These phenotypic features include changes in the motility, conformation, polarity and functionality of cancer cells, ultimately leading cells to stemness, increased invasiveness, chemo- and radioresistance and the formation of cancer metastasis. Amongst the different existing types of the EMT, type 3 is directly involved in carcinogenesis. A type 3 EMT occurs in neoplastic cells that have previously acquired genetic and epigenetic alterations, specifically affecting genes involved in promoting clonal outgrowth and invasion. Markers such as E-cadherin; N-cadherin; vimentin; and transcription factors (TFs) like Twist, Snail and ZEB are considered key molecules in the transition. The EMT process is also regulated by microRNA expression. Many miRNAs have been reported to repress EMT-TFs. Thus, Snail 1 is repressed by miR-29, miR-30a and miR-34a; miR-200b downregulates Slug; and ZEB1 and ZEB2 are repressed by miR-200 and miR-205, respectively. Occasionally, some microRNA target genes act downstream of the EMT master TFs; thus, Twist1 upregulates the levels of miR-10b. Melatonin is an endogenously produced hormone released mainly by the pineal gland. It is widely accepted that melatonin exerts oncostatic actions in a large variety of tumors, inhibiting the initiation, progression and invasion phases of tumorigenesis. The molecular mechanisms underlying these inhibitory actions are complex and involve a great number of processes. In this review, we will focus our attention on the ability of melatonin to regulate some key EMT-related markers, transcription factors and micro-RNAs, summarizing the multiple ways by which this hormone can regulate the EMT. Since melatonin has no known toxic side effects and is also known to help overcome drug resistance, it is a good candidate to be considered as an adjuvant drug to conventional cancer therapies.

Crinoidea y Asteroidea (Echinodermata) del talud de la península de Yucatán, de la Colección Nacional de Equinodermos de México / Crinoidea and Asteroidea (Echinodermata) from the slope of the Yucatan Peninsula, Colección Nacional de Equinodermos, Mexico

Resumen Introducción: Las especies de las clases Crinoidea y Asteroidea se distribuyen en gran variedad de hábitats en todos los océanos desde la zona intermareal hasta grandes profundidades, existen pocos registros en aguas mexicanas, a profundidades superiores a los 200 m, los escasos registros existentes datan de documentos históricos de la literatura especializada y los ejemplares se resguardan en colecciones científicas extranjeras. Objetivo: Contribuir a la recopilación de información de los ejemplares resguardados en la Colección Nacional de Equinodermos (CNE) del Instituto de Ciencias del Mar y Limnología (ICML), UNAM y proveer un inventario de las especies de crinoideos y asteroideos que habitan en zonas profundas del talud de la Península de Yucatán, México. Métodos: Del año 2005 al 2014 se recolectaron ejemplares de crinoideos y asteriodeos en cuatro cruceros en el B/O "Justo Sierra" BIOREPES 1 y 2 y COBERPES 2 y 6. Se realizaron arrastres con red camaronera en 80 estaciones de muestreo. Resultados: El listado taxonómico comprende 1146 ejemplares, de los cuales 204 son crinoideos del orden Comatulida, distribuidos en tres familias tres géneros y tres especies y 942 asteroideos distribuidos en seis órdenes, 11 familias, 21 géneros y 28 especies. Se obtuvieron los registros nuevos para la CNE: Democrinus rawsonii y Atelecrinus balanoides en crinoideos. Astropecten alligator, Hymenaster modestus, Calyptraster personatus, Pteraster militarioides militarioides, Sclerasterias contorta en asteroideos. Con esta información se incrementan los registros de crinoideos y asteroideos (de profundidad mayor a 200 m) para los estados de Yucatán (16) y Quintana Roo (16).

Abstract Introduction: The species of the Crinoidea and Asteroidea classes are distributed in a wide variety of habitats in all oceans from the intertidal zone to great depths, there are few Mexican records in depths greater than 200 m, the few existing records date from historical documents in the specialized literature and the specimens are kept in foreign scientific collections. Objective: Contribute to the collection of information on the specimens kept in the Colección Nacional de Equinodermos (CNE) of Instituto de Ciencias del Mar y Limnología (ICML), UNAM and provide an inventory of the species of crinoids and asteroids that inhabit deep areas of the slope of the Yucatan Peninsula, Mexico. Methods: From 2005 to 2014, specimens of crinoids and asterioids were collected through four cruises in the B/O "Justo Sierra" BIOREPES 1 and 2 and COBERPES 2 and 6, shrimp net trawls were carried out at 80 sampling stations. Results: The taxonomic list includes 1146 specimens, of which 204 crinoids are of the order Comatulida, distributed in three families, three genera and three species and 942 asteroids distributed in six orders, 11 families, 21 genera and 28 species. New records were obtained for CNE: Democrinus rawsonii and Atelecrinus balanoides in crinoids. Astropecten alligator, Hymenaster modestus, Calyptraster personatus, Pteraster militarioides militarioides, Sclerasterias contorta in asteroids. With this information, the records of crinoids and asteroids (deeper than 200 m) increase for the states of Yucatan (16) and Quintana Roo (16).

Resonancia magnética para portadores de dispositivos cardiovasculares. Consenso SEC-GT CRMTC/SEC-Asociación del Ritmo Cardiaco/SERAM/SEICAT / Magnetic resonance in patients with cardiovascular devices. SEC-GT CRMTC/SEC-Heart Rhythm Association/SERAM/SEICAT consensus document

La resonancia magnética se ha convertido en técnica de imagen de primera línea en muchas situaciones clínicas. El número de pacientes portadores de dispositivos cardiovasculares, como los dispositivos cardiovasculares electrónicos implantables, ha crecido de modo exponencial. Aunque se han descrito complicaciones y efectos adversos cuando estos pacientes se someten a exploraciones de resonancia magnética, la evidencia clínica actual respalda la seguridad de realizar estos estudios cuando se cumplen unas normas y recomendaciones dirigidas a minimizar los posibles riesgos. El Grupo de Trabajo de Cardiorresonancia Magnética y Cardiotomografía Computarizadas de la Sociedad Española de Cardiología (SEC-GT CRMTC), la Asociación del Ritmo Cardiaco de la Sociedad Española de Cardiología (SEC-Asociación del Ritmo Cardiaco de la Sociedad Española de Cardiología), la Sociedad Española de Radiología Médica (SERAM) y la Sociedad Española de Imagen Cardiotorácica (SEICAT) han elaborado el presente documento, que revisa la evidencia disponible en este campo y establece las recomendaciones necesarias para que los pacientes portadores de dispositivos cardiovasculares electrónicos implantables y otros dispositivos puedan acceder con seguridad a este instrumento diagnóstico (AU)

Magnetic resonance has become a first-line imaging modality in various clinical scenarios. The number of patients with different cardiovascular devices, including cardiac implantable electronic devices, has increased exponentially. Although there have been reports of risks associated with exposure to magnetic resonance in these patients, the clinical evidence now supports the safety of performing these studies under specific conditions and following recommendations to minimize possible risks. This document was written by the Working Group on Cardiac Magnetic Resonance Imaging and Cardiac Computed Tomography of the Spanish Society of Cardiology (SEC-GT CRMTC), the Heart Rhythm Association of the Spanish Society of Cardiology (SEC-Heart Rhythm Association), the Spanish Society of Medical Radiology (SERAM), and the Spanish Society of Cardiothoracic Imaging (SEICAT). The document reviews the clinical evidence available in this field and establishes a series of recommendations so that patients with cardiovascular devices can safely access this diagnostic tool (AU)

Alcohol binge drinking induces downregulation of blood-brain barrier proteins in the rat frontal cortex -but not in the hippocampus- that is not prevented by OEA pretreatment.

Alcohol binge drinking promotes neuroinflammation which could be partially mediated by the passage of ABD-induced peripheral inflammatory molecules to the brain parenchyma through the blood-brain barrier. The BBB is sealed by tight junction proteins, which regulate the access of substances to the brain. Whether ABD alters the BBB or not remains controversial. Here, we measured the expression of BBB proteins in frontal cortex and hippocampus after an ABD procedure that was previously shown to induce neuroinflammation in the FC, and checked neuroinflammation in the hippocampus. Oleoylethanolamide is known to inhibit ABD-induced neuroinflammation in rat FC but the mechanisms of action are not clear: whereas OEA protects against alcohol-induced breakdown of the TJ proteins in the gut barrier reducing peripheral inflammation, its effect in the TJ of the BBB remains unknown. Here, we studied whether OEA (5 mg/kg, before each gavage) prevented alcohol-induced BBB dysfunction by measuring the expression of zona-occludens, occludin, and laminin in FC and hippocampus. ABD animals showed reduced laminin and occludin levels in the FC, indicative of BBB dysfunction, which is concordant with previous findings showing ABD-induced neuroinflammation in this brain region. OEA did not prevent ABD-induced changes in the BBB proteins in the FC, suggesting that the OEA main mechanism of action to inhibit neuroinflammation in this brain region is not related to prevention of TJ proteins alteration in the BBB. In the hippocampus, this ABD protocol did not alter BBB protein levels and no markers of neuroinflammation were found elevated.

Cirugía micrográfica de Mohs en carcinomas cutáneos: siete años de experiencia en Uruguay / Mohs micrographic surgery in skin cancer: 7 years' experience in uruguay / Cirurgia micrográfica de Mohs em carcinomas cutáneos: 7 anos de experiência no Uruguai

Introducción: la cirugía micrográfica de Mohs es una técnica para la exéresis de cánceres de piel con la ventaja del examen histológico del 100% de los márgenes quirúrgicos, logrando así la tasa de curación más alta con la máxima preservación de tejido sano circundante. Objetivo: realizar una descripción clínico-epidemiológica de 7 años de experiencia en Uruguay. Método: análisis descriptivo de pacientes operados por un mismo cirujano de Mohs registrando datos clínicos, tumorales y quirúrgicos. Resultados: se estudiaron 641 cirugías. 54,9% fueron realizadas en hombres y 45,1% en mujeres. La edad media fue de 69 años. El 68,2% correspondió a carcinoma basocelular y 31,8% a carcinoma espinocelular. El 79,4% se encontraba en cabeza y cuello. El 87,8% de los tumores fueron primarios y un 11,1% recidivas. El tipo más frecuente de cierre fue el cierre simple con 48,7% seguido de los colgajos con un 31,7%. Conclusiones: la cirugía de Mohs es un procedimiento seguro y eficaz, y nuestros resultados coinciden con lo descrito en centros de referencia internacional. Este trabajo describe 7 años de experiencia en Uruguay de la técnica de CMM, siendo el mayor a nivel nacional.

Introduction: Mohs micrographic surgery is a technique for skin cancer exeresis involving the advantage of 100% of surgical margins histological exam, which leads to highest healing rates with the maximum preservation of the surrounding healthy tissue. Objective: to conduct a clinical and epidemiological description of a 7 years' experience in Uruguay. Method: descriptive analysis of patients operated by the same Mohs surgeon who recorded clinical, tumor and surgical data. Results: 641 surgeries were included in the study. 54.9% of surgeries were performed in men and 45.1% in women. Average age was 69 years old. 68.2% of cases corresponded to basal cell carcinoma and 31.8% to squamous cell carcinoma. 79.4% were located in the head and neck, 87.8% of tumors were primary and 11.1% were cases of relapse. The most frequent type of closure was simple in 48.7% of cases, followed by flaps in 31.7%. Conclusions: Mohs surgery is a safe an effective procedure, and the results of the study agree with what is described in international reference centers. The study describes a 7 years' experience in Uruguay of Mohs micrographic surgery, being it the largest research conducted in Uruguay.

Introdução: a cirurgia micrográfica de Mohs é uma técnica de excisão de cânceres de pele com a vantagem do exame histológico de 100% das margens cirúrgicas, alcançando assim a maior taxa de cura com a máxima preservação do tecido saudável circundante. Objetivo: realizar uma descrição clínico-epidemiológica de 7 anos de experiência no Uruguai. Método: análise descritiva de pacientes operados pelo mesmo cirurgião com experiência na técnica de Mohs registrando dados clínicos, tumorais e cirúrgicos. Resultados: foram estudadas 641 cirurgias. 54,9% foram realizados em homens e 45,1% em mulheres. A média de idade foi de 69 anos. 68,2% corresponderam a carcinoma basocelular e 31,8% a carcinoma espinocelular. 79,4% estavam na cabeça e pescoço. 87,8% dos tumores eram primários e 11,1% recidivas. O tipo de fechamento mais frequente foi o fechamento simples (48,7%) seguido do fechamento com retalhos com (31,7%). Conclusões: a cirurgia de Mohs é um procedimento seguro e eficaz, e nossos resultados coincidem com os descritos em centros de referência internacionais. Este trabalho descreve 7 anos de experiência no Uruguai da técnica CMM, sendo a maior a nível nacional.

Adelgazamiento cortical y área tumoral. ¿Predictores de fractura patológica en encondromas de falanges de manos? / Cortical thinning and tumoral area. Predictors of pathological fracture in enchondromas of phalanges of the hand?

Introducción y objetivo: Los encondromas son los tumores primarios más comunes en las falanges de las manos. Cuando son descubiertos en pacientes asintomáticos, el cirujano debe decidir entre tratamiento quirúrgico o actitud expectante. Hasta la fecha, no se dispone de indicadores radiológicos establecidos que determinen el riesgo de fractura patológica. Pretendemos conocer la utilidad de dos parámetros de radiografía simple, adelgazamiento cortical y área ósea ocupada por tumor, como predictores de fractura patológica. Material y método: Estudio retrospectivo, observacional y analítico, de casos y controles, realizado entre 2003 y 2017 con 18 pacientes operados por encondromas en falanges de manos, 9 de ellos asintomáticos (grupo A, control), y otros 9 con fractura patológica como debut (grupo B, casos). Con el objetivo de identificar los parámetros radiológicos asociados con fractura, analizamos sus radiografías preoperatorias anteroposteriores y laterales. Cuantificamos el área de hueso ocupada por tumor y el grado de adelgazamiento cortical en ambos grupos. Resultados: No encontramos diferencias significativas respecto al área de hueso ocupada por tumor (p > 0.1). Sin embargo, en el grupo B evidenciamos, de manera estadísticamente significativa, un mayor grado de adelgazamiento cortical (p < 0.1).La probabilidad de desarrollar fractura patológica se incrementa en falanges con mayor adelgazamiento cortical, tanto en radiografías anteroposteriores [Odds Ratio (OR) 16, Intervalo de Confianza (IC) 90% 1.97-130.24] (p=0.01) como en laterales (OR 7, IC 90% 1.21-40.62) (p=0.03). Conclusiones: De nuestro estudio deducimos la asociación positiva entre adelgazamiento cortical y desarrollo de fractura patológica en falanges de manos afectadas por encondromas. (AU)

Background and objective: Enchondromas are the most common primary tumors involving phalanges of the hand. When they are identified in asymptomatic patients, surgeons must decide between surgery or watchful waiting. Till the date, there is no established radiological parameter for determining the risk of pathological fracture.Our study aims to determine the utility of two radiographic indicators, amount of cortical thinning and bone area occupied by tumor, as predictors of pathological fracture. Methods: Retrospective, observational and analytic, case-control study, conducted between 2003 and 2017. Eighteen patients with enchondromas of phalanges of the hand were operated on; 9 of them were asymptomatic (control, group A), and in the other 9 cases (group B), pathological fracture was the first presenting symptom of disease. In order to identify radiological parameters associated with pathological fracture, we analyzed their anteroposterior and lateral preoperative radiographs. We measured the bone area occupied by tumor, and the amount of cortical thinning, in both groups.Results: There was no statistically significant difference between the two groups with respect to bone area occupied by tumor (p > 0.1). Nevertheless, the amount of cortical thinning was significantly higher in group B (p < 0.1).The probability of developing a pathological fracture was increased in bones with greater cortical thinning. This was observed in anteroposterior radiographs [Odds Ratio (OR) 16, Confidence Interval (CI) 90% 1.97-130.24] (p=0.01) and in lateral radiographs (OR 7, CI 90% 1.21-40.62) (p=0.03). Conclusions: Our study suggests a positive association between cortical thinning and development of pathological fracture in hand phalanges affected by enchondromas. (AU)

Experiencia clínica con medicamentos huérfanos para enfermedades raras metabólicas / Clinical experience with orphan drugs for rare metabolic diseases

Introducción: Los errores congénitos del metabolismo son un grupo muy heterogéneo de enfermedades raras. La mayoría se pueden tratar con dieta y sustitución enzimática. Existen pocos pacientes y pocos estudios publicados en estas enfermedades. Por ello, se ha llevado a cabo un estudio con el objetivo de evaluar la efectividad de los medicamentos huérfanos utilizados en errores congénitos del metabolismo de un hospital general de 630 camas. Material y métodos: Estudio descriptivo restrospectivo de 24 meses de duración en un hospital general de 630 camas. Se incluyeron los pacientes diagnosticados durante la infancia de errores congénitos del metabolismo y que acudieron a Hospital de Día o a la consulta de Farmacia.(AU)

Introduction: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. The main objective of this study was to describe the effectiveness of orphan drugs in inborn errors of metabolism in paediatric patients. Material and Methods: Retrospective descriptive study of 24 months on patients diagnosed with inborn errors of metabolism during childhood and who attended the pharmacy clinic or Day-Care Unit of a 630-bed general hospital. (AU)

Comparación de las tinciones con hematoxilina y eosina versus azul de toluidina en la evaluación de los carcinomas cutáneos durante la cirugía micrográfica de Mohs / Comparative study of toluidine blue and hematoxylin and eosin staining in evaluating skin-carcinoma during Mohs micrographic surgery / Comparação da coloração de hematoxilina e eosina versus azul de toluidina na avaliação de carcinomas cutâneos durante a cirurgia micrográfica de Mohs

Resumen: Introducción: la cirugía micrográfica de Mohs es una técnica quirúrgica especializada para el tratamiento del cáncer de piel no melanoma. La histopatología cumple un rol fundamental, y la elección de la tinción es un punto de controversia. Objetivos: comparar el rendimiento de las tinciones de hematoxilina y eosina (HyE) versus azul de toluidina (AT) durante la cirugía. Método: estudio observacional, descriptivo y transversal a partir de noviembre de 2017 hasta mayo de 2018. Se incluyeron las láminas empleadas durante la cirugía en el período mencionado. Estas fueron analizadas por el cirujano de Mohs, tres residentes y una dermopatóloga. Se valoró el rendimiento de ambas tinciones, teniendo en cuenta las características celulares y los elementos del estroma. Resultados: se estudiaron 23 tumores (16 carcinomas basocelulares y 7 carcinomas espinocelulares). Al observarse al microscopio óptico tanto con la tinción de AT como con HyE no se encontraron diferencias significativas entre ambos grupos en lo global, sólo en algunas características, especialmente con la HyE. Conclusiones: es el primer trabajo en Uruguay que compara la eficacia de las dos tinciones durante la cirugía micrográfica de Mohs. Como conclusión tanto la tinción de HyE como el AT son muy buenas técnicas para el diagnóstico de carcinomas cutáneos.

Abstract: Introduction: Mohs micrographic surgery is a specialized surgical technique used to treat nonmelanoma carcinoma. Histopathology plays a vital role in the diagnosis of this condition, and the choice staining method is controversial. Objective: to compare results in the use of hematoxylin and eosin (H&E) versus Toluidine blue (TB) staining during surgery. Method: observational, descriptive and transversal study conducted from November, 2017 until May, 2018 of the slides used during surgeries in the selected period. Slides were analysed by the Mohs surgeon, 3 residents and a dermopathologist to evaluate the results of both staining methods, in consideration of cell features and stromal elements. Results: 23 tumors were analysed (16 Basal Cell carcinomas and 7 Squamous Cell Carcinoma). Microscopic observation of slides prepared with Toluidine blue and hematoxylin and eosin stains did not show significant global differences between both groups, except in terms of a few characteristics, in particular with hematoxylin and eosin stains. Conclusions: this was the first study in Uruguay to evaluate the effectiveness of both staining methods during Mohs micrographic surgery, and it concluded that both Toluidine blue and hematoxylin and eosin stains are very good techniques in evaluating skin-cancer.

Resumo: Introdução: a cirurgia micrográfica de Mohs é uma técnica cirúrgica especializada para o tratamento do câncer de pele não melanoma. A histopatologia desempenha um papel fundamental, onde a escolha da coloração é um ponto de controvérsia. Objetivos: comparar o desempenho das colorações de hematoxilina e eosina versus azul de toluidina durante a cirurgia. Método: estudo observacional, descritivo e transversal de novembro de 2017 a maio de 2018. Foram incluídas as lâminas utilizadas durante as cirurgias no referido período. Estas foram analisadas pelo cirurgião especializado na técnica de Mohs, 3 residentes e um dermatopatologista onde foi avaliado o desempenho de ambas as colorações, levando em consideração as características celulares e os elementos do estroma. Resultados: foram estudados 23 tumores (16 carcinomas basocelulares e 7 carcinomas espinocelulares). Quando observados ao microscópio de luz para coloração AT e H&E, não foram encontradas diferenças significativas entre os dois grupos em geral, apenas em algumas características, especialmente com o H&E. Conclusões: é o primeiro estudo no Uruguai que compara a eficácia dos 2 corantes durante a cirurgia micrográfica de Mohs. Em conclusão, tanto a coloração com hematoxilina e eosina quanto com azul de toluidina são técnicas muito boas para o diagnóstico de carcinomas de pele.

Myofibroblastoma of the male breast: A case report / Miofibroblastoma en la mama de un varón, descripción de un caso clínico

Myofibroblastoma (MFB) is a rare spindle stromal tumour of the breast that predominates in 60–80 years-old adult males. Its imaging features are nonspecific, leading to misdiagnosis. Thus, core biopsy is needed for definitive diagnosis. Macroscopically, MFB is usually a well-circumscribed, firm and rubbery, unencapsulated, pale white to grey round mass. Microscopically, it consists on spindle cells arranged in haphazardly intersecting fascicles or clusters, thick hyalinized collagen bundles and low mitotic activity with a lack of myoepithelial component and necrosis. Immunohistochemistry shows consistently positive immunoreactivity to vimentin and CD34, while expression of desmin, SMA, bcl-2 and CD99 varies. Oestrogen, progesterone and androgen receptors are usually expressed. They are constantly negative to cytokeratins, EMA, S100 protein, HMB-45 and c-kit (CD117). These differentiate them from fibroadenoma, phyllodes tumour, round pattern gynecomastia, carcinoma and sarcoma, since they present infiltrative growth and are negative to CD34. Wide local excision is curative, with no need of sentinel lymph node biopsy, since local recurrence is extremely low and has been reported to be less than 1.5%. No distant metastases have been described on the literature. We report a rare case MFB on a 73-year-old male attended at our institution presenting with a nodule on the right breast. (AU)

El miofibroblastoma (MFB) es un tumour estromal de células fusiformes que aparece en varones de 60-80 años. Las características radiológicas son inespecíficas, por lo que es necesaria la realización de biopsia para el diagnóstico definitivo. Macroscópicamente se trata de una lesión bien circunscrita, firme, no encapsulada. Microscópicamente consiste en células fusiformes organizadas en fascículos entremezclados con bandas de colágeno hialino, con baja actividad mitótica y ausencia de componente mioepitelial y necrosis. La inmunohistoquímica muestra la expresión constante de vimentina y CD34, con expresión variable de desmina, AML, bcl-2 y CD99. Los receptores de estrógenos, progesterona y andrógenos normalmente son positivos, mientras que la expresión de citoqueratinas, EMA, S100, HMB-45 y c-kit (CD117) es negativa. Estas características lo diferencian del fibroadenoma, tumour filodes, ginecomastia, carcinoma y sarcoma, ya que la mayoría de ellos se caracterizan por ser negativos para CD34 y presentar crecimiento infiltrativo. La tumorectomía es considerada curativa, sin necesidad de realizar biopsia selectiva de ganglio centinela, dado que la recurrencia local es baja (menos del 1,5%). No se ha descrito la presencia de metástasis a distancia en la literatura. Presentamos el caso de MFB en un varón de 73 años que debutó con un nódulo en la mama derecha. (AU)

Expansion of the genus Massinium (Holothuroidea: Thyonidae) to the American continent and description of a new species / Expansión del género Massinium (Holothuroidea: Thyonidae) al continente americano y descripción de una nueva especie

Introduction: The genus Massinium includes 11 species, most from the Indo Pacific Ocean, and had not previously being reported from the American continent. Objective: To present the new record of the genus Massinium and describe a new species of this genus. Methods: Material collection was done by SCUBA-diving to depths of a maximum of 9 m. Results: Massinium ocumichoensis sp. nov. is described from seven specimens that extends the range of the genus to the American continent (Guerrero, Michoacan and Jalisco, Mexico). The new species lives in sandy-rocky substrata, from 2 to 16 m deep. It is distinguished from its congeneric species by a combination of morphological characters: mid-dorsal slightly bigger pseudobuttons (40-60 μm), and tables in the body wall. A taxonomic key for distinguishing the species of Massinium is provided. Conclusions: The geographic range of the genus Massinium is extended to the Mexican Pacific with M. ocumichoensis sp. nov.

Introducción : El género Massinium incluye 11 especies, la mayoría del Océano Indo-Pacífico, y no se había reportado previamente en el continente americano. Objetivo: Presentar el nuevo registro del género Massinium y describir una nueva especie de este. Métodos: La recolección de material se realizó mediante buceo a una profundidad máxima de 9 m. Resultados: Massinium ocumichoensis sp. nov. se describe a partir de siete ejemplares que extiende el rango de distribución del género al Continente Americano (Guerrero, Michoacán y Jalisco, México). La nueva especie vive en sustratos arenosos-rocosos, de 2 a 16 m de profundidad. Se distingue de sus especies congenéricas por una combinación de caracteres morfológicos: pseudobotones de la zona dorsal media ligeramente más grandes (40-60 μm) y tablas en la pared del cuerpo. Se proporciona una clave taxonómica para distinguir las especies de Massinium. Conclusiones: El rango geográfico del género Massinium se extiende al Pacífico mexicano con M. ocumichoensis sp. nov.

Biodiversidad de ofiuroideos (Echinodermata: Ophiuroidea) del talud de la Península de Yucatán, México / Biodiversity of ophiuroids (Echinodermata: Ophiuroidea) from the slope of the Yucatan Peninsula, Mexico

Introduction: The Ophiuroidea class is the most diverse of the Phylum Echinodermata, with 2 064 described species, which can be found from intertidal zones to abyssal depths, but the fauna of Yucatan peninsula needs more study. Objective: To describe the diversity of ophiuroids in the Yucatan continental slope. Methods: Information was compiled from four oceanographic surveys carried out in August 2005, June 2007 (BIOREPES 1 and 2: BRP1 and BRP2), April 2011 and August 2014 (COBERPES 2 and 6: CBP2 and CBP6). The specimens were obtained by trawling with a shrimp net in soft substrates and with a skimmer-type trawl dredge at a depth range of 200 to 1 071 m off the states of Yucatán and Quintana Roo, Mexico. Results: We found members of two superorders, five orders, six suborders, five superfamilies, 18 families, 28 genera and 43 species. Conclusions: The northeast zone Yucatan Peninsula has at least 43 species, of which 19 are new records for the area.

Introducción: La clase Ophiuroidea es la más diversa del Phylum Echinodermata, con 2 064 especies descritas, que se pueden encontrar desde zonas intermareales hasta profundidades abisales, pero la fauna de la península de Yucatán necesita más estudio. Objetivo: Describir la diversidad de ofiuroideos en el talud continental de Yucatán. Métodos: Se recopiló información de cuatro estudios oceanográficos llevados a cabo en agosto de 2005, junio de 2007 (BIOREPES 1 y 2: BRP1 y BRP2), abril de 2011 y agosto de 2014 (COBERPES 2 y 6: CBP2 y CBP6). Los especímenes se obtuvieron mediante la pesca de arrastre con una red camaronera en sustratos blandos y con una draga de arrastre tipo skimmer en un rango de profundidad de 200 a 1 071 m frente a los estados de Yucatán y Quintana Roo, México. Resultados: Encontramos miembros de dos superórdenes, cinco órdenes, seis subórdenes, cinco superfamilias, 18 familias, 28 géneros y 43 especies. Conclusiones: La zona noreste de la Península de Yucatán tiene al menos 43 especies, de las cuales 19 son nuevos registros para el área.

Ontogenetic variation of the odontophore of Luidia superba (Asteroidea: Paxillosida) and its taxonomic implications / Variación ontogenética del odontóforo de Luidia superba (Asteroidea: Paxillosida) y sus implicaciones taxonómicas

Introduction: The sea star odontophore is the structure positioned between the paired oral ossicles, with which they articulate through proximal and distal processes. The internal anatomy structures may be used as taxonomic characters for a precise differentiation between species, so it is necessary to describe the structures variation throughout growth. Objective: To describe the odontophore shape and variation of Luidia superba A. H. Clark, 1917 from specimens of the Gulf of California deposited in the Echinoderm National Collection, ICML UNAM. Methods: A total of 735 specimens were examined to describe the external characters, from which 55 selected specimens, within a range of R = 14 mm and R = 210 mm, were dissected to extract the odontophores and analyzed with geometric morphometrics. Results: Scanning electronic microscopy (SEM) images of the odontophores showing the variations in shape throughout growth are presented. Differences in shape between size groups were confirmed with a Canonical Variables Analysis (P < 0.05). Conclusions: There are three main groups in this size ranges where specialization of the stereom can be observed through the ontogenetic series; the variation in shape of the odontophore shown here is a precedent for the use of internal anatomy as new taxonomic characters of identification.

Introducción: El odontóforo es la estructura posicionada entre las placas orales pareadas con las que se articula a través de procesos proximales y distales. Las estructuras de la anatomía interna se pueden usar como caracteres taxonómicos para la diferenciación más precisa entre especies, por lo que es necesario describir la variación de las estructuras a lo largo del crecimiento. Objetivo: Describir la forma y la variación del odontóforo de Luidia superba A. H. Clark, 1917 de ejemplares del Golfo de California depositados en la Colección Nacional de Equinodermos, ICML UNAM. Métodos: Se revisaron un total de 735 ejemplares para describir los caracteres externos y de las cuales se seleccionaron 55 ejemplares, dentro de un intervalo de R = 14 mm a R = 210 mm, de los cuales se extrajeron los odontóforos y fueron analizados utilizando morfometría geométrica. Resultados: Se presentan imágenes de microscopía electrónica de barrido (MEB) de los odontóforos que muestran las variaciones de la forma durante el crecimiento. Se confirmaron diferencias significativas de la forma entre los grupos de tallas mediante un CVA (p< 0.05). Conclusiones: Se observa especialización del estereoma a lo largo de la serie ontogenética; la variación en la forma del odontóforo aquí mostrada es precedente para el uso de estructuras de la anatomía interna como nuevos caracteres de identificación.

Retos del sistema general de seguridad social y salud: prospectiva para el desarrollo social en la Costa Atlántico de Colombia / Challenges of the general system of social security and health: Prospective for social development in the Atlantic Coast of Colombia

Introducción: Concepción interdisciplinaria de la gestión del sistema de salud en el contexto latinoamericano, de acuerdo con lo establecido por la Organización Mundial de la Salud/ Organización Panamericana de la Salud. El artículo propone una estrategia prospectiva de desarrollo social en la Costa Atlántica de Colombia, para afianzar el funcionamiento, desde lo preventivo y asistencial, del Sistema General de Seguridad Social y Salud colombiano. Objetivo: Definir, desde una visión prospectiva para el desarrollo social colectivo, los retos del Sistema General de Seguridad Social y Salud colombiano. Método: Estudio exploratorio, fundamentado en el análisis teórico conceptual que permite derivar el sistema de relaciones de las categorías: gerencia del sistema de salud y desarrollo social colectivo. Se aplica la prospectiva estratégica, mediante el componente empírico-analítico, a través del cual se visualizan escenarios futuros que direccionen el desarrollo del sistema de salud a partir de la interacción entre sus actores representativos. Resultados: Se determinaron debilidades relacionadas con la gestión integral del Sistema General de Seguridad Social y Salud colombiano, específicamente en la Costa Atlántica. En esta región del país el escaso uso de técnicas prospectivas debilita la estrategia gerencial y minimiza la posibilidad de asumir retos y prever incertidumbres en uno de los sistemas que, a través de la efectividad de servicios de salud y calidad de vida, supone un indicador de desarrollo social colectivo. Conclusiones: Necesidad de visionar retos y escenarios para modelar la gestión del Sistema General de Seguridad Social y Salud en la Costa Atlántica de Colombia para afianzar la equidad, la inclusión y la calidad de vida e incrementar los estándares de gestión de la salud en colectivos y comunidades vulneradas(AU)

Introduction: There is an interdisciplinary basis conceived for the management of the health system in the Latin American context, in accordance with the provisions of WHO/PAHO and that is linked with related disciplines, such as management and education. This article proposes a prospective strategy of social development in the Atlantic Coast of Colombia to consolidate its functioning from the preventive and welfare perspectives in the Colombian's General System of Social Security and Health (SGSSS, by its acronym in Spanish). Objective: To define the challenges of the SGSSS from a prospective point of view for the collective social development. Method: An exploratory study, based on the conceptual, theoretical analysis to derive the relations´ system of the following categories: management of the health system, and collective social development. Strategic prospective is used by the empirical-analytical component to visualize future scenarios of probable occurrence that address the development of the health system from the interaction between its representative actors. Results: The weaknesses identified were related to the comprehensive management of the Colombian SGSSS, specifically on the Atlantic Coast, where the limited use of prospective techniques weakens the management strategy and minimizes the possibility of assuming challenges and anticipating uncertainties in one of the systems that through the effectiveness of health services and quality of life warrants responding to collective social development. Conclusions: There is a need to view challenges and scenarios for modeling the management of the SGSSS on the Atlantic Coast of Colombia to strengthen the equity, inclusion and quality of life, and to increase the standards of health management in vulnerable groups and communities(AU)