Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies.

60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt's disease. We propose the name 'Stargardt's pigmentosa' for this novel clinical entity.

Una reflexión multimodal sobre los contenidos educativos construidos en imagen y video en el marco de una propuesta educativa para la salud / A Multimodal Reflection on the Educational Contents Constructed in Image and Video within the Framework of an Educational Proposal for Health

Resumen Cuando los procesos de construcción de contenidos digitales se producen con escaza participación de la comunidad, las decisiones sobre el significado pasan por la interpretación de técnicos y profesionales expertos que tienen otra lectura del mundo y en algunos casos se termina en procesos de exclusión desde el mismo significado que se presenta. Debido a la toma de decisiones que surge entre una temática y el modo que se elige, se presenta como reto una participación amplia de las comunidades para crear contenidos formativos en el marco de la Educativos para la Salud (EpS).

Abstract: When the processes of construction of digital contents are produced with little participation of community, decisions about the meaning go through the interpretation of technical and professional experts, who have another reading of the world and, in some cases, end up in processes of exclusion from the same meaning that is presented. Due to the decision making that arises between a theme and the way it is chosen, a broad participation of communities to create formative contents within the framework of Education for Health (EpS) is presented as a challenge.

Supradesnivel del segmento ST como forma de presentación atípica de un tumor cardíaco: rol diagnóstico de la multimodalidad de imagen / ST segment elevation as an atypical presentation of a cardiac tumor: diagnostic role of a multimodal imaging approach / Elevação do segmento ST como apresentação de tumor cardíaco: papel diagnóstico da multimodalidade de imagem

Los tumores cardíacos malignos son neoplasias poco frecuentes que pueden presentarse de diversas formas, lo que dificulta su diagnóstico. La ecocardiografía y la resonancia magnética cardíaca son técnicas fundamentales para el diagnóstico, la caracterización y la evaluación de su extensión tumoral. La identificación de la línea tumoral es esencial al iniciar un tratamiento oncológico dirigido. Si bien el "estándar de oro" para este fin es el estudio anatomopatológico (obtenido por biopsia o resección quirúrgica), en los casos en que esto no es posible, la resonancia magnética cardíaca es la técnica no invasiva que proporciona un mejor abordaje diagnóstico. El tratamiento de elección es la resección quirúrgica y el pronóstico, en general, es malo. Presentamos el caso de una paciente con un tumor cardíaco de presentación clínica atípica, en la que un abordaje imagenológico multimodal aporta información clave y complementaria para el diagnóstico y la caracterización tisular.

Malignant cardiac tumors are rare neoplasms that can present in various forms, making their diagnosis difficult. Echocardiography and cardiac magnetic resonance imaging are fundamental techniques for the diagnosis, characterization, and evaluation of tumor extension. Identification of the tumor line is essential when initiating targeted cancer therapy. Although the "gold standard" for this purpose is the pathological study (obtained by biopsy or surgical resection), in cases where this is not possible, cardiac resonance is the non-invasive technique that provides a better diagnostic approach. The treatment of choice is surgical resection and the prognosis is generally poor. We present the case of a patient with an atypical clinical presentation, in which a multimodal approach provides key and complementary information for tumor diagnosis and tissue characterization.

Os tumores cardíacos malignos são neoplasias raras que podem se apresentar de várias formas, dificultando seu diagnóstico. A ecocardiografia e a ressonância magnética cardíaca são técnicas fundamentais para o diagnóstico, caracterização e avaliação da extensão tumoral. A identificação da linha do tumor é essencial ao iniciar a terapia direcionada do câncer. Embora o "padrão ouro" para esse fim seja o estudo patológico (obtido por biópsia ou ressecção cirúrgica), nos casos em que isso não seja possível, a ressonância cardíaca é a técnica não invasiva que proporciona melhor abordagem diagnóstica. O tratamento de escolha é a ressecção cirúrgica e o pronóstico geralmente é ruim. Apresentamos o caso de uma paciente com apresentação clínica atípica, em que a abordagem multimodal fornece informações essenciais e complementares para o diagnóstico do tumor e caracterização do tecido.

Cuando no todo es lo que parece_: masa extracardíaca en la aurícula izquierda: reporte de un caso en Uruguay / When not everything is what it seems_: extra-cardiac mass in the left atrium: a case report in Uruguay / Quando nem tudo é o que parece_: massa extracardíaca em átrio esquerdo: relato de um caso no Uruguai

La hernia hiatal es una entidad relativamente frecuente y puede ser un hallazgo incidental en un estudio ecocardiográfico. Describimos el caso de una paciente con diagnóstico de masa en la aurícula izquierda (AI) sin clara etiología, a quien se le realiza el diagnóstico de hernia hiatal por resonancia magnética cardíaca (RMC) y luego se demuestra mediante ecocardiografía de contraste el contenido gástrico de la masa tras la ingestión de una bebida carbonatada, lo que permite de forma rápida y sencilla aclarar el diagnóstico.

Hiatal hernia is a relatively common entity, and may be an incidental finding in an echocardiographic study. We describe the case of a patient with a diagnosis of a mass in the left atrium with no clear etiology, in whom the diagnosis of hiatal hernia is made by cardiac magnetic resonance imaging and then demonstrated by contrast echocardiography the gastric content of the mass after the ingestion of a carbonated drink, which allows quickly and easily to clarify the diagnosis.

A hérnia de hiato é uma entidade relativamente comum, e pode ser um achado incidental em um estudo ecocardiográfico. Descrevemos o caso de um paciente com diagnóstico de massa em átrio esquerdo sem etiologia definida, em que o diagnóstico de hérnia de hiato é feito por ressonância magnética cardíaca e posteriormente demonstrado por ecocardiografia contrastada com uma bebida gaseificada, permitindo esclarecer de forma rápida e fácil o diagnóstico.

Left ventricular pseudothrombus: multimodality imaging rules out a "ghost image" of a thrombus seen on cardiac computed tomography. / Pseudotrombo en ventrículo izquierdo. "Imagen fantasma" en tomografía axial computarizada. Diagnóstico multimodalidad.

Cardiac computed tomography showed a hypodense area in the apex of the left ventricle in a 57-year-old man with a history of anterior myocardial infarction three years earlier. To confirm or rule out a suspected thrombus, he underwent gadolinium-enhanced cardiac magnetic resonance imaging, contrast-enhanced two-dimensional transthoracic echocardiography, and three-dimensional transthoracic echocardiography. Multimodality imaging ruled out the presence of a thrombus.

PET-CT in presurgical lymph node staging in non-small cell lung cancer: the importance of false-negative and false-positive findings. / La PET-TC en la estadificación ganglionar prequirúrgica del carcinoma de pulmón de células no pequeñas: implicación de los falsos negativos y falsos positivos.

OBJECTIVE: To assess the importance of false-negative and false-positive findings in computed tomography (CT) and 18F-FDG positron emission tomography (PET) in mediastinal lymph node staging in patients undergoing surgery for non-small cell lung cancer (NSCLC). MATERIAL AND METHODS: This retrospective study included 113 consecutive patients and 120 resected NSCLCs; 22 patients received neoadjuvant treatment. We compared the findings on preoperative 18F-FDG PET-CT studies with the postoperative pathology findings. Lymph node size and primary tumor size were measured with CT, and lymph nodes and primary tumors were evaluated qualitatively and semiquantitatively (using standardized uptake values (SUVmax)) with PET. RESULTS: Metastatic lymph nodes were found in 26 (21.7%) of the 120 tumors and in 41 (7.7%) of the 528 lymph node stations analyzed. 18F-FDG PET-CT yielded 53.8% sensitivity, 76.6% specificity, 38.9% positive predictive value, 85.7% negative predictive value, and 71.7% diagnostic accuracy. The false-negative rate was 14.2%. Multivariable analysis found that the factors associated with false-negative findings were a moderate degree of differentiation in the primary tumor (p = 0.005) and an SUVmax of the primary tumor >4 (p = 0.027). The false-positive rate was 61.1%, and the multivariable analysis found that lymph node size >1cm was associated with false-positive findings (p < 0.001). CONCLUSIONS: In mediastinal lymph node staging in patients with NSCLC, 18F-FDG PET-CT improves the specificity and negative predictive value and helps clinicians to select the patients that will benefit from surgery. Given the high rate of false positives, histological confirmation of positive cases is recommendable.

PET/MRI: A luxury or a necessity? / PET/RM: ¿un lujo o una necesidad?

PET/MRI is a new multimodality technique with a promising future in diagnostic imaging. Technical limitations are being overcome. Interference between the two systems (PET and MRI) seems to have been resolved. MRI-based PET attenuation correction can be performed safely. Scan time is acceptable and the study is tolerable, with claustrophobia prevalence similar to that of MRI. Quantification with common parameters, such as Standardized Uptake Value (SUV), shows a fairly good correlation between both systems. However, PET/CT currently provides better results in scan time, scan costs, and patient comfort. Less patient radiation exposure is a big advantage of PET/MRI over PET/CT, which makes it particularly recommended in paediatric and adolescent patients requiring one or more studies. PET/MRI indications are the same as those of PET/CT, given that in cases where MRI is superior to CT, PET/MRI is superior to PET/CT. This superiority is clear in many soft tissue tumours. Moreover, it is common to perform both PET/CT and MRI in neurological diseases, as well as in some tumours, such as breast cancer. A single PET/MRI study replaces both with obvious benefit. MRI also allows other MRI-based PET corrections, such as motion or partial volume effect corrections. The better spatial resolution of MRI allows the transfer of well-defined MRI areas or small volumes of interest to PET image, in order to measure PET biomarkers in these areas. The richness of information of both techniques opens up immense possibilities of synergistic correlation between them.

Utilidad de la imagen en multi-modalidad para el diagnóstico diferencial de las masas cardíacas / Multi-modality imaging for diagnosis and characterization of cardiac masses

Introducción: El presente trabajo es un estudio descriptivo de una serie de casos con masas cardíacas cuyo estudio involucró múltiples modalidades de imagen no invasiva, incluyendo Ecocardiograma (ECO), Tomografía Axial Computada Cardíaca (TAC), PET/CT (Tomografía de Emisión de Positrones) y Resonancia nuclear magnética (RNM) Cardíaca. Objetivo: Establecer la capacidad diagnóstica de la multa-modalidad de imagen en el estudio etiológico y localización de una masa cardíaca pesquisada inicialmente por ECO transtorácico. Método: Se realizó un análisis descriptivo de 37 casos estudiados con diversas modalidades de imagen no invasiva en Vanderbilt University Medical Center, Nashville, Tennessee, entre Julio 2014 y Julio 2015, La naturaleza de las masas fue determinada por biopsia, cirugía o seguimiento clínico. Resultados: Del total de masas, 14 (39%) fueron tumores confirmados por biopsia; 11 (30%) correspondieron a trombos; 1 caso (2.8%) fue una masa valvular infecciosa; 1 caso (2.8%) correspondió a calcificación caseosa del anillo Mitral; 1 caso (2.8%) fue variante normal y solo 1 caso (2.8%) fue indeterminado; 6 (17%) casos fueron masas de localización extracardíaca. La modalidad ECO + RNM Cardíaca fue suficiente para caracterizar localización y tipo histológico en 28 casos (76%); la modalidad ECO + TAC Cardíaca + RNM Cardíaca fue necesaria en 7 casos (19%); La modalidad ECO + TAC Cardíaca + RNM Cardíaca + PET/CT fue necesaria en 1 caso (2.5%) para la actividad mitótica celular; la modalidad ECO + RNM Cardíaca + PET/CT fue necesaria en 1 caso (2.5%) para localización, tipo histológico, calcio y actividad infecciosa. La modalidad ECO + TAC Cardíaca no permitió identificar localización, tipo histológico con calcificación y /o tejido adiposo. Conclusión: La multi-modalidad de imagen permitió identificar la etiología y localización de la masa cardíaca en el 97% de los casos. La combinación ECO + RNM Cardíaca fue la modalidad más usada. La TAC Cardíaca es particularmente útil para caracterizar calcificaciones y/o tejido adiposo y el PET/CT para caracterizar actividad metabólica (infección activa y actividad mitótica celular).

Background: We analyzed a series of patients with cardiac masses who were studied using multiple imaging modalities, including echocardiography (ECHO), CT Scan, Magnetic Resonance imaging (RNM) and PET/CT Aim: to determine the usefulness of multi-modality imaging in determining the etiology and location of cardiac masses initially detected by ECHO Methods: 37 patients selected by the presence of a cardiac mass detected by ECHO were submitted to different modalities of cardiac imaging in order to determine the nature, location and etiology of the mass Results: 14 (39%) masses were tumors confirmed by biopsy; 11 (30%) fulfilled criteria to diagnose a thrombus; 1 patient (2.8%) had an infectious cardiac mass, another calcification of the mitral an-nulus, another turned out to be a normal variant and only in one patient (2.8%) a diagnosis was not possible. Six patients had extra cardiac masses. ECHO plus RNM were sufficient to characterize location and histologic type in 28 patients (76%). Seven cases (19%) required ECHO plus CT scan. ECHO plus CT scan plus RNM plus PET/CT was required in 1 patient to establish mitotic activity. ECHO plus RNM plus PT/CT was necessary to determine location, histologic type, presence of calcium and infectious activity Conclusion: Multimodality imaging allowed to determine etiology and location of cardiac masses in 97 % of cases. ECHO plus NMR was the combination most frequently used. CT scan was particularly useful to identify calcification and fat deposits and PET/CT to identify increased metabolic activity, either infection or mitotic activity.

An innovative multimodality approach for sentinel node mapping and biopsy in head and neck malignancies.

PURPOSE: Recent innovations such as preoperative SPECT/CT, intraoperative imaging using portable devices and a hybrid tracer were evaluated in a multimodality approach for sentinel node (SN) mapping and biopsy in head and neck malignancies. MATERIAL AND METHODS: The evaluation included 25 consecutive patients with head and neck malignancies (16 melanomas and 9 oral cavity squamous cell carcinomas). Patients were peritumorally injected with the hybrid tracer ICG-(99m)Tc-nanocolloid. SNs were initially identified with lymphoscintigraphy followed by single photon emission computed tomography (SPECT/CT) 2 hours after tracer administration. During surgery a portable gamma camera in combination with a near-infrared fluorescence camera was used in addition to a handheld gamma ray detection probe to locate the SNs. RESULTS: In all patients the use of conventional lymphoscintigraphy, SPECT/CT and the additional help of the portable gamma camera in one case were able to depict a total of 67 SNs (55 of them visualized on planar images, 11 additional on SPECT/CT and 1 additional with the portable gamma camera). A total of 67 of the preoperatively defined SNs together with 22 additional SNs were removed intraoperatively; 12 out of the 22 additional SNs found during operation were located in the vicinity of the injection site in anatomical areas such as the periauricular or submental regions. The other 10 additional SNs were found by radioguided post-resection control of the excision SN site. CONCLUSION: In the present series 26% additional SNs were found using the multimodal approach, that incorporates SPECT/CT and intraoperative imaging to the conventional procedure. This approach appears to be useful in malignancies located close to the area of lymphatic drainage such as the periauricular area and the oral cavity.

Ecolocación humana: Revisión histórica de un fenómeno particular - Segunda parte / Human echolocation: Historical review of a particular phenomenon - Second part

La ecolocación es una habilidad que usaría inconscientemente la mayoría de las personas. Resulta crucial para la movilidad independiente de la persona ciega e implica utilizar sonidos autoproducidos y sus reflexiones para localizar y reconocer objetos que no se ven. Dos nuevos paradigmas han enriquecido el estudio de esta sorprendente habilidad: el del acoplamiento sensoriomotor y el de la sustitución sensorial. El primero sostiene que los sistemas perceptivo y motor constituyen procesos acoplados que requieren un insoslayable tratamiento unificado. El segundo considera que es posible ver con los oídos o con la piel en virtud de la plasticidad cerebral. En esta segunda parte se presenta la temática en el contexto teórico de la cognición corporizada y de recientes avances en neurociencias; se desarrollan además los estudios realizados en el tercer período. En esta revisión se reflejan cambios paradigmáticos en las ciencias del comportamiento y el valor científico acrecentado de la ecolocación humana.

Echolocation is an ability that can be used daily by human beings, even without being conscious of it. It turns out to be crucial to the efficient independent mobility of the blind person, an aspect that is severely affected by blindness. It implies using the information that emerges from self-produced sounds and their reflexions in order to locate and recognize unseen objects. According to the new cognitive and ecological paradigms in perception, it is believed that the primary function of the auditory system is to determinate, i.e., to localize and recognize, the characteristics of the sound source through the sounds emitted by it. Within this context, it has been very recently argued that echolocation (i.e., the ability to locate and recognize biologically relevant secondary sound sources through the information contained in the direct-reflected couple) is a variant of that general process of primary sound sources determination. Two recently established scientific paradigms have specially enriched the study of this amazing ability: the sensorimotor contingency theory and the sensory substitution perspective. The first approach claims that the perceptual and motor systems are coupling processes that demand a thoroughly unified treatment. The second approach considers that, for example, vision loss does not mean loss of the ability to see since it is possible to see with the ears or the skin. The central idea is that the information usually captured by vision may instead be captured by touch or audition, on account of brain plasticity. In this way, in echolocation (which represents a kind of 'seeing with the ears' natural sensory substitution system that is part of the human endowment) action consists of the exploratory activity that the subject carries out through self-generation of sounds and head and/or cane movements while sensation refers to certain tonal or spatial percepts related to the presence and characteristics of the objects that the subject (implicitly) learns to perceive probably as auditory Gestalts. In the first part of this article the main theoretical aspects and a revision of the studies throughout two of the three delimited periods were developed: FIRST APPROACHES (1700 - 1935) and SIENTIFIC STUDY OF HUMAN ECHOLOCATION (1940 -1980). The questions that researchers formulated during these periods were firstly concerned with discovering if blind persons actually possessed this ability, which of the sense organs was involved and which sensory stimulation was its necessary and sufficient condition. Secondly, they inquired into the scopes of echolocation and its possible underlying psychoacoustic mechanisms. The thorough investigations carried out allowed to unequivocally establishing that audition is the sensory basis of this ability and that changes in pitch are its necessary and sufficient condition. It was also demonstrated that not only blind subjects but also appropriately trained sighted subjects were able to precisely localize and recognize the characteristics of the experimental objects. In this second part, we present the object of study within the context of theories of embodied cognition and recent developments in the field of the neurosciences; we also elaborate upon studies carried out during the third period, named RECENT STUDIES, that extends from 1990 to present days. We show how the blind person with good echolocation ability becomes an excellent experimental model to study behavioral and neurophysiological aspects involved in implicit learning. The article illustrates the paradigm shifts that occurred in recent scientific history through the study of this particular human ability that, within the mentioned recent theoretical context, has acquired a renewed interest.