Rethinking the Neural Basis of Prosody and Non-literal Language: Spared Pragmatics and Cognitive Compensation in a Bilingual With Extensive Right-Hemisphere Damage.

Above and beyond the critical contributions of left perisylvian regions to language, the neural networks supporting pragmatic aspects of verbal communication in native and non-native languages (L1s and L2, respectively) have often been ascribed to the right hemisphere (RH). However, several reports have shown that left-hemisphere activity associated with pragmatic domains (e.g., prosody, indirect speech, figurative language) is comparable to or even greater than that observed in the RH, challenging the proposed putative role of the latter for relevant domains. Against this background, we report on an adult bilingual patient showing preservation of pragmatic verbal skills in both languages (L1: Spanish, L2: English) despite bilateral damage mainly focused on the RH. After two strokes, the patient sustained lesions in several regions previously implicated in pragmatic functions (vast portions of the right fronto-insulo-temporal cortices, the bilateral amygdalae and insular cortices, and the left putamen). Yet, comparison of linguistic and pragmatic skills with matched controls revealed spared performance on multiple relevant tasks in both her L1 and L2. Despite mild difficulties in some aspects of L2 prosody, she showed no deficits in comprehending metaphors and idioms, or understanding indirect speech acts in either language. Basic verbal skills were also preserved in both languages, including verbal auditory discrimination, repetition of words and pseudo-words, cognate processing, grammaticality judgments, equivalent recognition, and word and sentence translation. Taken together, the evidence shows that multiple functions of verbal communication can be widely spared despite extensive damage to the RH, and that claims for a putative relation between pragmatics and the RH may have been overemphasized in the monolingual and bilingual literature. We further discuss the case in light of previous reports of pragmatic and linguistic deficits following brain lesions and address its relation to cognitive compensation in bilingual patients.

Efecto de concretud inverso en Afasia Progresiva Primaria-variante semántica: Estudio longitudinal de un paciente / Inverse Concrete Effect in Primary Progressive Aphasia-Semantic Variant: Longitudinal Study of a Patient

La Afasia Progresiva Primaria (APP) es una patología neurodegenerativa que se presenta con afectación insidiosa y progresiva del lenguaje. Los criterios diagnósticos actuales diferencian tres subtipos de APP, cada una con perfiles neurolingüísticos específicos. Diversas investigaciones han propuesto que un síntoma característico de la APP variante semántica (APP-vs) es un mayor compromiso en el procesamiento de conceptos concretos que de abstractos (Efecto de Concretud Inverso - ECI). Para explicar este ECI se han propuesto diferentes explicaciones: (a). el patrón de compromiso neural, (b). el nivel educativo de los pacientes, (c). el estadio de la enfermedad. El objetivo del presente trabajo es estudiar en forma longitudinal la progresión en el procesamiento de conceptos concretos y abstractos en un paciente diagnosticado con APP-vs. Para ello se utilizó una tarea de juicios de sinonimia donde se debe identificar si dos palabras son sinónimos o no. La tarea cuenta con pares de conceptos concretos y abstractos. Se evaluó al paciente en tres momentos (2014, 2015 y 2016). Se observó un mejor desempeño de conceptos abstractos en la primera evaluación. El ECI desaparece en la segunda evaluación. El patrón se revierte en la tercera. Estos resultados apoyan la propuesta de que el ECI observado en pacientes con APP-vs es un síntoma de los estadios iniciales de la enfermedad. Este ECI se relacionaría con la afectación temprana de las porciones del Lóbulo Temporal Anterior que procesan rasgos visuales, que serían más relevantes para los conceptos concretos.

Primary Progressive Aphasia (PPA) is a neurodegenerative disease which appears with progressive and insidious affectation of language. Current diagnostic criteria establish three different subtypes of PPA, each showing specific neurolinguistic profiles. Several researches have proposed a Reverse Concreteness Effect (RCE) as a main symptom for the Semantic Variant of PPA (sv-PPA), that is, a better performance with abstract than concrete concepts. Different explanations for this effect include: (a). pattern of neural degeneration, (b). patients' educational level, (c). moment of disease progression. The aim of this work is to study the progression of concrete and abstract concepts processing in a patient diagnosed with sv-PPA. We used a synonyms judgement task where the subject has to indicate if two words are synonyms or not. The task include both concrete and abstract concepts. The patient was evaluated in three different moments (2014, 2015 and 2016). A better performance with abstract concepts was observed during the first evaluation. The RCE disappeared during the second assessment. The third time showed a reversed pattern. Our results support those proposing that the RCE can only be found at initial stages of vs-PPA. The RCE appears to be related to the early degeneration of some portions in the Anterior Temporal Lobe which process visual features. These would be much more relevant for processing concrete concepts.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior segment. Here, we describe 3 families with variable inter-generational ocular expression of aniridia, iris coloboma, or microphthalmia, and an unusual transmission of PAX6 mutations from an unaffected or mildly affected parent; all of which raised suspicion of gonosomal mosaicism. We first identified two previously known nonsense mutations and one novel likely pathogenic missense variant in PAX6 in probands by means of targeted NGS. The subsequent segregation analysis by Sanger sequencing evidenced the presence of highly probable mosaic events in paternal blood samples. Mosaicism was further confirmed by droplet digital PCR analysis in several somatic tissues of mosaic fathers. Quantification of the mutant allele fraction in parental samples showed a marked deviation from 50%, with a range between 12 and 29% depending on cell type. Gonosomal mosaicsm was definitively confirmed in one of the families thanks to the availability of a sperm sample from the mosaic father. Thus, the recurrence risk in this family was estimated to be about one-third. This is the first report confirming parental PAX6 mosaicism as a cause of disease recurrence in aniridia and other related phenotypes. In addition, we demonstrated that post-zygotic mosaicism is a frequent and underestimated pathogenic mechanism in aniridia, explaining intra-familial phenotypic variability in many cases. Our findings may have substantial implications for genetic counseling in congenital aniridia. Thus, we also highlight the importance of comprehensive genetic screening of parents for new sporadic cases with aniridia or related developmental eye disease to more accurately assess recurrence risk. In conclusion, somatic and/or gonosomal mosaicism should be taken into consideration as a genetic factor to explain not only families with unaffected parents despite multiple affected children but also variable expressivity, apparent de novo cases, and even uncharacterized cases of aniridia and related developmental eye disorders, apparently lacking PAX6 mutations.

La farmacia española y el comercio electrónico / Spanish pharmacies and e-commerce

La utilización de las nuevas tecnologías, de manera asidua, por parte de la sociedad como herramienta para la obtención de diferentes tipos de servicios es innegable en la actualidad. Esta nueva manera de actuación, ha exigido a las distintas formas de negocio y a los mercados, que se transformen y adapten a los nuevos procesos comunicativos. Las farmacias en su vertiente empresarial no podía dejar pasar esta oportunidad de contemporización, por ello se promulgo el Real Decreto 870/2013, con el objetivo de coordinar la actuación sanitaria del farmacéutico y su actividad comercial realizada a través de internet, ya que esta nueva forma de servicio de las farmacias es una extensión virtual de la propia farmacia física. La farmacia digital puede suponer una oportunidad para incrementar el volumen de ventas, crear marca y actualizar la imagen de un negocio tan tradicional como éste. Sin embargo, para los profesionales de la farmacia la transformación de su negocio en un servicio digital es un nuevo reto al que se aproxima con desconocimiento, manifestando sus dudas sobre cómo montar una página web y que servicios ofertar. Por lo que, antes de iniciar el esfuerzo, que supone la implantación del negocio digital en la farmacia, debe hacer un análisis de los riesgos y oportunidades, que le supone su instauración. El objetivo de esta investigación fue facilitar a los farmacéuticos, una herramienta para conocer las características de este mercado y ayudarle a implantar y gestionar los contenidos de su farmacia on-line

The assiduous use of new technologies as a way for societies to achieve different services is undeniable in today’s day and age. This new way of carrying out tasks has demanded a transformation and adaption in communication processes from different types of businesses and markets. The business side of pharmacies could not miss this opportunity and, therefore, the promulgation of the Royal Decree 870/2013 came into effect. The objective of this decree is to coordinate the healthcare actions taken by pharmacists as well as their commercial activity carried out via the internet, considering that this new form of service is a virtual extension of the physical pharmacy. The digital pharmacy can create an opportunity to increase the number of sales, the creation of a brand, and update the traditional image that this business has. However, for the pharmacists themselves, the transformation of their businesses to a digital one is a new challenge that starts with the unknown, and continues with doubts about how to create a webpage and deciding what services to offer. Therefore, before starting the process, which implies implanting a digital business within the pharmacy, it is important to carry out an analysis of the risks and opportunities that come along with the establishment of such a venture. The objective of this research project was to provide pharmacists with a tool to help them understand the characteristics of this market, and help them implement and manage the contents of their online pharmacy

Analisis del comercio on-line de medicamentos falsificados / Analysis of on line marketing of counterfeit medicines

Los cambios tecnológicos por su naturaleza disruptiva y dinámica han supuesto socialmente un cambio en el modo de adquirir cualquier bien de consumo. Los medicamentos, no están ajenos a esta tendencia y en los últimos años se ha registrado un aumento significativo de la adquisición de éstos a través de canales no oficiales, como internet. Sin embargo, estas nuevas formas de comercialización están íntimamente relacionadas con la falsificación de los medicamentos. Los medicamentos falsificados son realmente productos nocivos, que pueden ocasionar graves problemas de salud a sus consumidores. Sin embargo, esta comercialización fraudulenta y legalmente poco castigada, reporta un gran beneficio económico a las redes distribuidoras. Por ello, la incidencia de este mercado es cada vez mayor, así como la perfección y variedad de los medicamentos falsificados. En el siguiente artículo, realizaremos un análisis descriptivo cualitativo y cuantitativo de un muestreo aleatorio de páginas web, que por sus características comercializan con falsificaciones de medicamentos. Así mismo, analizaremos las normas jurídicas y no jurídicas de ámbito europeo y nacional y los planes estratégicos nacionales e internacionales que se han establecido para luchar contra el fraude de los medicamentos espurios utilizadas por autoridades y profesionales de la salud para intentar erradicar la proliferación estos canales de distribución y proteger la salud de los pacientes impidiéndoles consumir medicamentos falsificados (AU)

Technological changes, because of their disruptive and dynamic nature, have implied a social change in the way to acquire any consumer product. Medicines are not excluded from this tendency, and in recent years a significant increase has been recorded in their acquisition through unofficial channels such as the internet. These new forms of marketing are closely linked, however, to the counterfeiting of drugs. Counterfeit drugs are truly nasty products which can cause serious problems in those taking them. This fraudulent and legally largely unpunished business, however, generates a large in come for the counterfeit drugs networks. This is why this market is constantly increasing, as are the perfection and variety of the counterfeit drugs marketed. In the following article we shall make a descriptive analysis, both qualitative websites which characteristically deal in counterfeit medicines. We shall also analyse the legal and non-legal rules (both national and international), as also the strategic plans (both national and international), which have been established by medical authorities and individuals to oppose the use of spurious medication and to eradicate the spread of the distribution channels and, thereby, to safegnard the health of patients by preventing them from taking counterfeit medicines (AU)