reach to grasp interjoint coordination for moving objects in children with hemiplegia

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ROBOT-MEDIATED AND CLINICAL SCALES EVALUATION AFTER UPPER LIMB BOTULINUM TOXIN TYPE A INJECTION IN CHILDREN WITH HEMIPLEGIA

Objective: The aim of this pilot study was to examine changes in different aspects of impairment, including spasticity in the upper limbs, of hemiplegic children following botulinum toxin type A intervention. Progress was assessed using standard clinical measurements and a robotic device. Design: Pre-post multiple baseline. Subjects: Six children with hemiplegia. Methods: Botulinium toxin type A injections were administered into the affected upper limb muscles. Outcomes were evaluated before and one month after the injection. Outcome assessments included: Melbourne Scale, Modified Ashworth Scale (MAS) and Passive Range of Motion. Furthermore, a robotic device was employed as an evaluation tool. Results: Patients treated with botulinum toxin type A had significantly greater reduction in spasticity (MAS, p < 0.01), which explains an improvement in upper limb function and quality movement measured with the Melbourne Scale (p < 0.01). These improvements are consistent with robot-based evaluation results that showed statistically significant changes (p < 0.01) following botulinum toxin type A injections. Conclusion: The upper limb performs a wide variety of movements. The multi-joint nature of the task during the robotmediated evaluation required active control of joint interaction forces. There was good correlation between clinical scales and robotic evaluation. Hence the robot-mediated assessment may be used as an additional tool to quantify the degree of motor improvement after botulinum toxin type A injections

Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome

Background: Social cognition (SC) deficits and of its facial emotion expression (FEE) component have been described in 22q11.2 Deletion Syndrome (22q11.2DS), a high-risk for schizophrenia (SCZ) systemic genetic syndrome. Correlations between deficits in FEE skills and visual-spatial abilities in people with 22q11.2DS warrant investigation. Methods: The sample consisted of 37 patients with 22q11.2DS (DEL), 19 with 22q11.2DS and psychosis (DEL-SCZ), 23 with idiopathic SCZ, and 48 healthy controls. We assessed FEE through The Ekman 60 Faces test (EK-F60), visual-spatial skills with Raven's Standard Progressive Matrices, and symptom severity with the positive And negative syndrome scale. Statistics were conducted through multivariate analysis of variance and correlation analysis. Results: Patients with 22q11.2DS performed worse that the other groups in recognizing Surprise, Disgust, Rage, Fear, and Neutral expressions on the EK-F60. Recognition of Surprise and Disgust correlated positively with visual-spatial abilities in patients with 22q11.2DS; negative and cognitive symptoms correlated negatively with recognition of Sadness, Surprise, and Disgust. Conclusions: Patients with 22q11.2DS show impairments of both peripheral and central steps of the emotional recognition process, leading to SC deficits. The latter are present regardless of the presence of a full-blown psychosis

Variants in ATP5F1B are associated with dominantly inherited dystonia

Nasca et al. identify a new candidate gene for dystonia, ATP5F1B, encoding a subunit of the mitochondrial ATP synthase (complex V). Likely pathogenic variants in ATP5F1B were associated with early-onset isolated dystonia in two independent families, both with an autosomal dominant mode of inheritance and incomplete penetrance. ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly factors or structural subunits are associated with complex V deficiency, typically characterized by autosomal recessive inheritance and multisystem phenotypes. Movement disorders have been described in a subset of cases carrying autosomal dominant variants in structural subunits genes ATP5F1A and ATP5MC3. Here, we report the identification of two different ATP5F1B missense variants (c.1000A>C;p.Thr334Pro and c.1445T>C;p.Val482Ala) segregating with early-onset isolated dystonia in two families, both with autosomal dominant mode of inheritance and incomplete penetrance. Functional studies in mutant fibroblasts revealed no decrease of ATP5F1B protein amount but severe reduction of complex V activity and impaired mitochondrial membrane potential, suggesting a dominant-negative effect. In conclusion, our study describes a new candidate gene associated with isolated dystonia and confirms that heterozygous variants in genes encoding subunits of the mitochondrial ATP synthase may cause autosomal dominant isolated dystonia with incomplete penetrance, likely through a dominant-negative mechanism

Integrated parentheticals in quotations and free indirect discourse

Free Indirect Discourse and Quotations are introduced by a special kind of parentheticals, minimally constituted by a subject and a predicate of saying, thinking etc. I propose that these parentheticals are represented in a syntactic structure integrated with that of the reported sentence. The phrases hosting the parentheticals are projected by prosody oriented heads, i.e., heads which do not express a lexical content, but are read at the syntax-phonology interface as special instructions for realizing the peculiar intonation associated to parentheticals, the so-called comma intonation. I show that this approach offers several advantages, contributing in solving some long standing problems connected with the syntactic status of parentheticals in general.In this chapter I consider the syntactic properties of a particular kind of parentheticals, those introducing Quotations – henceforth, QU – and Free Indirect Discourse – henceforth, FID. Consider the following examples: (1) I will leave tomorrow, said John (2) The new ration did not start till tomorrow and he had only four cigarettes left, thought Winston (adapted, from Orwell 1984). Example (1) is a QU structure and the parenthetical in question is said John. Example (2) is a FID construction and the parenthetical is thought Winston. As already well known, they have special properties from an interpretive, syntactic and phonological point of view. QU and FID parentheticals are alike under many points of view, even if the two constructions must be kept separate, especially with respect to the interpretation of pronouns and verbal forms. For the purposes of this work, I will in general consider them alike. Observe now the following paradigm: (3) John said that Mary left (4) John said: “Mary left” (5) Maria, said John, left. It seems to me that the most important goal for a syntactic analysis is to provide a coherent analysis of the similarities and differences among the constructions in (3)- (5). At first sight, these structures seem very much alike, both from the point of view of their meaning and their syntax – to the extent that some scholars have proposed a direct syntactic derivation (Emonds 1973; Ross 1973), for instance of (5) starting from (3). I will show here that the situation is indeed much more complex than that. In particular, in this paper I show that example (5) is closer to (4) than to (3). The approach I will develop here is an integrated view of parentheticals, complying with Kayne’s (1994) Linear Correspondence Axiom (LCA)

Discourse, sentence grammar and the left periphery of the clause

The term left periphery refers to that area on the left of the subject, in the syntactic representation of a clause, where the relationships with the context are encoded. In this work I propose a syntactic analysis that goes beyond mere sentence grammar and integrates prosodic and discourse features as well. On the one hand, this move accounts for some observations previously not fully understood, such as the anomalous syntactic properties of Clitic Left Dislocation and Hanging Topic, their differences with respect to Focus and their similarities with parentheticals. On the other, it aims at providing a theory of grammar able to encode the relationships between sentence grammar, context and bigger units such as discourses

Growth Hormone Secretagogues Protect Mouse Cardiomyocytes from in vitro Ischemia/Reperfusion Injury through Regulation of Intracellular Calcium

Background: Ischemic heart disease is a leading cause of mortality. To study this disease, ischemia/reperfusion (I/R) models are widely used to mimic the process of transient blockage and subsequent recovery of cardiac coronary blood supply. We aimed to determine whether the presence of the growth hormone secretagogues, ghrelin and hexarelin, would protect/improve the function of heart from I/R injury and to examine the underlying mechanisms. Methodology/Principal Findings: Isolated hearts from adult male mice underwent 20 min global ischemia and 30 min reperfusion using a Langendorff apparatus. Ghrelin (10 nM) or hexarelin (1 nM) was introduced into the perfusion system either 10 min before or after ischemia, termed pre- and post-treatments. In freshly isolated cardiomyocytes from these hearts, single cell shortening, intracellular calcium ([Ca ] ) transients and caffeine-releasable sarcoplasmic reticulum (SR) Ca were measured. In addition, RT-PCR and Western blots were used to examine the expression level of GHS receptor type 1a (GHS-R1a), and phosphorylated phospholamban (p-PLB), respectively. Ghrelin and hexarelin pre- or post-treatments prevented the significant reduction in the cell shortening, [Ca ] transient amplitude and caffeine-releasable SR Ca content after I/R through recovery of p-PLB. GHS-R1a antagonists, [D-Lys3]-GHRP-6 (200 nM) and BIM28163 (100 nM), completely blocked the effects of GHS on both cell shortening and [Ca ] transients. Conclusion/Significance: Through activation of GHS-R1a, ghrelin and hexarelin produced a positive inotropic effect on ischemic cardiomyocytes and protected them from I/R injury probably by protecting or recovering p-PLB (and therefore SR Ca content) to allow the maintenance or recovery of normal cardiac contractility. These observations provide supporting evidence for the potential therapeutic application of ghrelin and hexarelin in patients with cardiac I/R injury