336 research outputs found
Weak and strong disjunction in possibilistic asp
Abstract. Possibilistic answer set programming (PASP) unites answer set programming (ASP) and possibilistic logic (PL) by associating certainty values with rules. The resulting framework allows to combine both non-monotonic reasoning and reasoning under uncertainty in a single framework. While PASP has been well-studied for possibilistic definite and possibilistic normal programs, we argue that the current semantics of possibilistic disjunctive programs are not entirely satisfactory. The problem is twofold. First, the treatment of negation-as-failure in existing approaches follows an all-or-nothing scheme that is hard to match with the graded notion of proof underlying PASP. Second, we advocate that the notion of disjunction can be interpreted in several ways. In particular, in addition to the view of ordinary ASP where disjunctions are used to induce a non-deterministic choice, the possibilistic setting naturally leads to a more epistemic view of disjunction. In this paper, we propose a semantics for possibilistic disjunctive programs, discussing both views on disjunction. Extending our earlier work, we interpret such programs as sets of constraints on possibility distributions, whose least specific solutions correspond to answer sets.
Query Answering in Normal Logic Programs under Uncertainty
We present a simple, yet general top-down query answering procedure for normal logic programs over lattices and bilattices, where functions may appear in the rule bodies. Its interest relies on the fact that many approaches to paraconsistency and uncertainty in logic programs with or without non-monotonic negation are based on bilattices or lattices, respectively
Monozygotic twin sisters discordant for familial hemiplegic migraine
Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM).
Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and
neuropsychological aura (forced thinking). Overall, the family members presented a wide range of phenotypical features.
Conclusions: Familial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura.
However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by
an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is
only a severe and complex form of typical aura
A Rare Variation of the Extensor Indicis Proprius Tendon With Important Clinical Implications
Introduction: Anatomical variations of the extensor tendons to the fingers are of great clinical interest, due to the relatively high frequency of tendon injury in clinical practice. Material and methods: During routine dissection of the right upper limb of a 67-year-old female preserved corpse, the extensor indicis proprius (EIP)
muscle belly originated 3 independent tendons, each with a separate fascial sheath, forming a triple EIP tendon.
There was a larger tendon, which occupied a central position, that represented the usual single EIP tendon. In addition, there were two thinner radial and ulnar accessory EIP tendons. The radial-EIP tendon crossed deep
to the extensor digitorum communis (EDC) tendon to the index finger in the distal half of the dorsum of the hand to reach the radial side of the extensor expansion hood of the index finger. Discussion: According to the literature, the frequency of a triple EIP tendon ranges from 0%, to as high as 7%, although most authors do not acknowledge the presence of this variant in their series. This variant of the EIP tendon, in which the radial-EIP terminated laterally to the termination of the tendon of the EDC to the index finger, may be a source of
confusion intraoperatively, as the EIP tendon has traditionally been identified on the basis of its ulnar location with respect to the EDC tendon. Conclusion: The possibility of a triple EIP tendon should certainly be born in mind by all surgeons when performing tendon repairs, tenoplasties or tendon transfers
Design of an inclusive & interactive educational textile toy
The market for educational toys is scarce in products specifically developed for blind and low sighted children, aiming not only at their motor and cognitive development as well as to the non-stigmatization of these children. Considering the development of educational toys, and based in previous research work [1], we found that textile materials offer an enormous application capability in this regard due not only to their flexibility in use and maintenance of properties, but also because of our familiarity with these materials.The main goal of this project is the study of the emotional response to an interactive educational textile toy by children with visual impairments - blind or partially sighted. In this way the project is based on four main axes: knowing the user, identifying his specific needs; knowing the product-user relationship with a special focus on tactile and emotional perception; study textile structures to best fit the design; and, finally, evaluate the user's response to the developed product by evaluating the product experience.- This work is supported by FEDER funding on the Programa Operacional Factores de Competitividade-COMPETE and by national funds through FCT - Foundation for Science and Technology within the scope of the project POCI-01-0145-FEDER-007136 and UID/CTM/00264.info:eu-repo/semantics/publishedVersio
Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular basis and expanded clinical phenotype
Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cerebellar ataxia with neuropathy and oculomotor apraxia. We used homozygosity mapping and exome sequencing to identify the MAG variant, and cellular studies to confirm its detrimental effect. Our results showed that this variant reduces protein stability and impairs the post-translational processing (N-linked glycosylation) and subcellular localization of MAG, thereby associating a loss of protein function with the phenotype. Therefore, MAG variants should be considered in the diagnosis of hereditary cerebellar ataxia with oculomotor apraxia, in addition to spastic paraplegia.This work was funded by National Funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., under the project UIDB/04293/2020. It was also funded by FEDER funds through the Programa Operacional Factores de Competitividade—COMPETE 2020 and by Nacional funds through the FCT [COMPETE: POCI-01-0145-FEDER-007440]. This work was also funded in part by the FCT grant FCT-ANR/BEX-GMG/0008/2013 and the Porto Neurosciences and Neurologic Disease Research Initiative at the i3S (Norte-01-0145-FEDER-000008), supported by Norte Portugal Regional Operational Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement, also through FEDER. The authors also acknowledge the support of the i3S Scientific Platform Advanced Light Microscopy, member of the PPBI (PPBI-POCI-01-0145-FEDER-022122) and GenomePT (POCI-01-0145-FEDER-022184). MS was the recipient of a fellowship (SFRH/BPD/116046/2016) from the FCT supported by POPH/MCTES funding
Evolutionism and genetics of posttraumatic stress disorder
The authors discuss, from the evolutionary concept, how flight and fight responses and tonic immobility can lead to a new understanding of posttraumatic stress disorder. Through the analysis of symptom clusters (revivals, avoidance and hyperexcitation), neurobiological and evolutionary findings are correlated. The current discoveries on posttraumatic stress disorder genetics are summarized and analyzed in this evolutionary perspective, using concepts to understand the gene-environment interaction, such as epigenetic. The proposal is that the research of susceptibility factors in posttraumatic stress disorder must be investigated from the factorial point of view, where their interactions increase the risk of developing the disorder, preventing a unique search of the cause of this disorder. The research of candidate genes in posttraumatic stress disorder must take into consideration all the systems associated with processes of stress response, such as the hypothalamus-pituitary-adrenal and sympathetic axes, mechanisms of learning, formation and extinguishing of declarative memories, neurogenesis and apoptosis, which involve many systems of neurotransmitters, neuropeptides and neurohormones.Os autores discutem, a partir do conceito evolutivo, como a resposta de estresse, nas suas possibilidades de fuga e luta e de imobilidade tônica, pode levar a uma nova compreensão etiológica do transtorno de estresse pós-traumático. Através da análise dos agrupamentos de sintomas desse diagnóstico - revivência, evitação e hiperexcitação -, procuram correlacionar os achados neurobiológicos e evolutivos. As descobertas atuais sobre a genética do transtorno de estresse pós-traumático são resumidas e colocadas nessa perspectiva evolutiva, dentro de conceitos que possibilitam o entendimento da interação gene/ambiente, como a epigenética. Propõem que a pesquisa dos fatores de risco do transtorno de estresse pós-traumático deva ser investigada do ponto de vista fatorial, onde a somatória destes aumenta o risco de desenvolvimento do quadro, não sendo possível a procura da causa do transtorno de forma única. A pesquisa de genes candidatos no transtorno de estresse pós-traumático deve levar em consideração todos os sistemas associados aos processos de respostas ao estresse, sistemas dos eixos hipotálamo-hipofisário-adrenal e simpático, mecanismos de aprendizado, formação de memórias declarativas, de extinção e esquecimento, da neurogênese e da apoptose, que envolvem vários sistemas de neurotransmissores, neuropeptídeos e neuro-hormônios.Universidade Federal de São Paulo (UNIFESP)(UNIFESP)UNIFESP Departamento de PsiquiatriaUniversidade de São Paulo Faculdade de Medicin Hospital de ClínicasUNIFESP, Depto. de PsiquiatriaSciEL
- …
