Automatic translation of the dactilologic language of hearing impaired by adaptive systems

Una de las principales limitaciones que presentan las personas con discapacidad auditiva está directamente relacionada con su dificultad para interactuar con otras personas, ya sea de forma verbal o a través de sistemas auxiliares basados en la voz y el audio. En este artículo se presenta el desarrollo de un sistema integrado de hardware y software, para el reconocimiento automático del lenguaje dactilológico de señas utilizado por personas con este tipo de discapacidad. El hardware está compuesto por un sistema inalámbrico adherido a un guante, el cual posee un conjunto de sensores que capturan una serie de señales generadas por los movimientos gestuales de la mano, y un modelo por adaptación basado en los principios de la computación neuronal, el cual permite su reconocimiento en términos de un lenguaje dactilológico en particular. Los resultados arrojados por el sistema integrado mostraron gran efectividad en el reconocimiento de las vocales que conforman el lenguaje dactilológico en español, esto gracias a la capacidad que posee el modelo de asociar un conjunto de señales de entrada, con un movimiento dactilológico en particular.One of the main limitations of the people with hearing impairment is directly related to their difficulty interacting with others, either verbally or through auxiliary systems based on voice and audio. This paper presents the development of an integrated system of hardware and software for automatic fingerspelling sign language used by people with this type of disability. The hardware system comprises a glove which has a set of wireless sensors that capture a series of signals generated by the hand gestures, and a adaptive model based on the principles of neural computation, that allows recognition of a particular dactilologic language. Results from the integrated system showed great effectiveness in recognizing vowels from the dactilologic Spanish language. This recognition was influenced by the dimensionality reduction made by the neural model of the input signals representing movements, and the sensitivity factor that sets the limit between recognition and learning

Minimally invasive robotic surgery: force and torque analysis

La cirugía mínimamente invasiva y la incorporación de la robótica en este tipo de procedimientos representa grandes ventajas para el paciente, el cirujano y los sistemas de salud. Sin embargo, los dispositivos comerciales disponibles en la actualidad no cuentan con realimentación de fuerza y tacto, que faciliten al cirujano la identificación de los tejidos y consecuentemente, la reducción de errores en los procedimientos quirúrgicos; por lo cual, el desarrollo de sistemas que cuenten con este tipo de realimentación se convierte en un tema de interés a nivel mundial. El presente artículo contiene una revisión del estado de la técnica con respecto a los sistemas comerciales y experimentales desarrollados en esta área. También, se presentan algunos sensores y modelos matemáticos utilizados para calcular las fuerzas y torques en cirugía mínimamente invasiva.Minimally Invasive Surgery and the adaptation of robotics to these procedures represent many advantages for the patient, the surgeon, and the health program. However, commercial devices used nowadays lack haptic feedback. This fact makes the tissue identification more difficult and increments the injuries risk during the surgical procedure. The development of systems with this kind of feedback has become a topic of interest throughout the world. The present article contains a revision of the state of the art about commercial and experimental systems developed in this area. Models for the force and torque propagation, used in Minimally Invasive Surgery, are also presented

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

<p>Abstract</p> <p>Background</p> <p>Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients.</p> <p>Methods</p> <p>We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA).</p> <p>Results</p> <p>No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients.</p> <p>Conclusions</p> <p>Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.</p

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data

Pathways to cellular supremacy in biocomputing

Synthetic biology uses living cells as the substrate for performing human-defined computations. Many current implementations of cellular computing are based on the “genetic circuit” metaphor, an approximation of the operation of silicon-based computers. Although this conceptual mapping has been relatively successful, we argue that it fundamentally limits the types of computation that may be engineered inside the cell, and fails to exploit the rich and diverse functionality available in natural living systems. We propose the notion of “cellular supremacy” to focus attention on domains in which biocomputing might offer superior performance over traditional computers. We consider potential pathways toward cellular supremacy, and suggest application areas in which it may be found.A.G.-M. was supported by the SynBio3D project of the UK Engineering and Physical Sciences Research Council (EP/R019002/1) and the European CSA on biological standardization BIOROBOOST (EU grant number 820699). T.E.G. was supported by a Royal Society University Research Fellowship (grant UF160357) and BrisSynBio, a BBSRC/ EPSRC Synthetic Biology Research Centre (grant BB/L01386X/1). P.Z. was supported by the EPSRC Portabolomics project (grant EP/N031962/1). P.C. was supported by SynBioChem, a BBSRC/EPSRC Centre for Synthetic Biology of Fine and Specialty Chemicals (grant BB/M017702/1) and the ShikiFactory100 project of the European Union’s Horizon 2020 research and innovation programme under grant agreement 814408

Analysis of shared heritability in common disorders of the brain

ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

Managing the return to sport of the elite footballer following semimembranosus reconstruction

Hamstring strains are the most common injury in elite football and typically occur during high-speed running. Despite its important contribution to power production in the late swing phase, injury to the semimembranosus (SM) is less common than to the biceps femoris, but may involve the free tendon and depending on the degree of retraction, warrant surgical repair. Few case reports detail clinical reasoning, supported by objective data during rehabilitation in elite footballers, and none have described the return to sport (RTS) process following this type of hamstring injury. In this article, we outline the management and RTS of an English Premier League (EPL) footballer who suffered a high-grade SM proximal tendon tear during training. Due to the degree of retraction of the free tendon, the player underwent surgical reconstruction at the recommendation of an orthopaedic surgeon. Early physiotherapy care, nutritional support, on- and off-pitch injury-specific reconditioning and global athletic development are outlined, alongside strength and power diagnostic and global positioning systems data, assessment of pain, player feedback and MRI informed clinical reasoning and shared decision-making during the RTS process. 18 weeks post-surgery the player returned to team training, transferring to a new club 3 weeks later. 2.5 years post RTS, the player remains free of re-injury playing regularly in the EPL

Physical preparation and return to performance of an elite female football player following ACL reconstruction: a journey to the FIFA Women’s World Cup

ACL injuries are among the most severe knee injuries in elite sport, with a high injury burden and re-injury risk. Despite extensive literature on the injury and the higher incidence of injury and re-injury in female athletes, there is limited evidence on the return to sport (RTS) of elite female football players following ACL reconstruction (ACLR). RTS is best viewed on a continuum aligning the recovery and rehabilitation process with the ultimate aim — a return to performance (RTPerf). We outline the RTS and RTPerf of an elite female football player following ACLR and her journey to the FIFA Women’s World Cup, including the gym-based physical preparation and the on-pitch/sports-specific reconditioning. We used the ‘control–chaos continuum’ as a framework for RTS, guiding a return above pre-injury training load demands while considering the qualitative nature of movement in competition. We then implemented the ‘RTPerf pathway’ to facilitate a return to team training, competitive match play and a RTPerf. Objective information, clinical reasoning and shared decision-making contributed to this process and helped the player to reach her goal of representing her country at the FIFA Women’s World Cup

Prevalencia de la infección por Helicobacter pylori en médicos de Medellín, Colombia

La infección por Helicobacter pylori (H. pylori) y las complicaciones asociadas, como el cáncer gástrico, representan un verdadero problema de salud pública porque lideran las tasas de morbilidad y mortalidad en Colombia y Latinoamérica, en donde es altamente prevalente. Objetivo: caracterizar la prevalencia de la infección por H. pylori en la población médica de Medellín, Colombia. Métodos: se realizó un estudio epidemiológico observacional transversal donde se incluyeron 342 médicos. Se evaluó la presencia de la infección por H. pylori mediante la prueba de aliento con urea marcada con carbono 13 y su asociación con aspectos personales, antecedentes de enfermedad gástrica y manifestaciones clínicas. Resultados: se encontró una prevalencia general de infección por H. pylori de 77.2% (IC 95%: 72.4% a 81.5%), que discriminada por género representa una prevalencia de 78.4% en hombres y 72.6% en mujeres, sin asociación significativa (Chi- ¿cuadrado p= 0.37). Del total de los 342 participantes, 183 (53.5%) presentaron al menos un evento sospechoso de enfermedad gástrica y de éstos, 141 (77%) fueron positivos y 42 (23%) negativos para H. pylori; de los 264 participantes H. pylori positivos, 141 (53.4%) presentaban antecedentes de enfermedad gástrica y 123 (46.6%) fueron asintomáticos. Conclusiones: la prevalencia de la infección por H. pylori en la población médica de Medellín, Colombia, es de 77.2% (IC 95%: 72.4% a 81.5%), acorde con el perfil epidemiológico de la región. Además, el 46.6% de los individuos infectados por H. pylori fueron asintomáticos y no hay antecedentes ni síntomas que permitan sospechar la presencia de la bacteria, la cual sólo es posible determinar tras el estudio apropiado de los individuos