Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype-phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture.

Optionality in animal communication: a novel framework for examining the evolution of arbitrariness.

A critical feature of language is that the form of words need not bear any perceptual similarity to their function - these relationships can be 'arbitrary'. The capacity to process these arbitrary form-function associations facilitates the enormous expressive power of language. However, the evolutionary roots of our capacity for arbitrariness, i.

Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.

Late-onset Pompe disease (LOPD) is an autosomal-recessive metabolic myopathy caused by deficiency of the lysosomal enzyme Acid Alpha-Glucosidase (GAA), leading to glycogen accumulation in proximal and axial muscles, and in the diaphragm. Enzyme Replacement Therapy (ERT) with recombinant GAA became available in 2006. Since then, several outcome measures have been investigated for the adequate follow-up of disease progression and treatment response, usually focusing on respiratory and motor function.

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.

Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in late-onset Pompe disease (LOPD). We stratified patients with comparable age and disease duration according to the severity of their respiratory phenotype, assessed by both upright FVC% and postural drop in FVC%.

Prevalence and predictors of atrial fibrillation in patients with embolic stroke of undetermined source: a real-life single-center retrospective study.

Introduction: Up to one-third of ischemic strokes remained cryptogenic despite extensive investigations. Atrial fibrillation may be detected in a significant proportion of patients with embolic stroke of undetermined source, particularly after the introduction of implantable loop recorder in clinical practice.

Methods: We retrospectively included all the consecutive patients with embolic stroke of undetermined source referred to our units in the period November 2013 to December 2018 and in which an implantable loop recorder was positioned within 6 months from stroke event.

Autotransplatation of immature third molars as substitutes for congenitally missing second premolars: an alternative solution in a young patient with oligodontia.

Auto transplantation of immature donor teeth can be a strategic therapeutic solution in young patients. It is preferable to choose this approach instead of prosthetic restorations because it offers a unique and definitive solution. Orthodontic space closure is not always deemed desirable, especially in non-extraction cases (53,54).

Neurofilament light chain and MRI volume parameters as markers of neurodegeneration in multiple sclerosis.

Background: Neurofilament light chain (NfL) is considered a major marker of neurodegeneration and disease activity. Higher levels of NfL are associated with worse clinical outcomes and increased brain atrophy. In treated patients with Relapsing-Remitting Multiple Sclerosis (RRMS), we aimed to determine the level of NfL, an association between NfL and demographic, clinical and magnetic resonance imaging (MRI) characteristics as well as brain volume parameters.

Oxidative stress in patients with newly diagnosed multiple sclerosis: any association with subclinical atherosclerosis?

Objectives: Multiple sclerosis (MS) is a chronic inflammatory autoimmune and neurodegenerative disease of the central nervous system (CNS) typically affecting young adults. Although the pathogenesis of MS is not fully understood, there is evidence to suggest that inflammation-induced oxidative stress can play a role in demyelination and axonal damage. Oxidative stress also participates in the pathogenesis of endothelial dysfunction and atherogenesis.

Temporal modulation in speech, music, and animal vocal communication: evidence of conserved function.

Speech is a distinctive feature of our species. It is the default channel for language and constitutes our primary mode of social communication. Determining the evolutionary origins of speech is a challenging prospect, in large part because it appears to be unique in the animal kingdom.

Hear them roar: A comparison of black-capped chickadee (Poecile atricapillus) and human (Homo sapiens) perception of arousal in vocalizations across all classes of terrestrial vertebrates.

Recently, evidence for acoustic universals in vocal communication was found by demonstrating that humans can identify levels of arousal in vocalizations produced by species across three biological classes (Filippi et al., 2017). Here, we extend this work by testing whether two vocal learning species, humans and chickadees, can discriminate vocalizations of high and low arousal using operant discrimination go/no-go tasks.

Perceptual Tuning Influences Rule Generalization: Testing Humans With Monkey-Tailored Stimuli.

Comparative research investigating how nonhuman animals generalize patterns of auditory stimuli often uses sequences of human speech syllables and reports limited generalization abilities in animals. Here, we reverse this logic, testing humans with stimulus sequences tailored to squirrel monkeys. When test stimuli are familiar (human voices), humans succeed in two types of generalization.

In search of an optimum sampling algorithm for prediction of soil properties from infrared spectra.

Background: The use of visible-near infrared (vis-NIR) spectroscopy for rapid soil characterisation has gained a lot of interest in recent times. Soil spectra absorbance from the visible-infrared range can be calibrated using regression models to predict a set of soil properties. The accuracy of these regression models relies heavily on the calibration set.

Combining ancillary soil data with VisNIR spectra to improve predictions of organic and inorganic carbon content of soils.

While traditional laboratory methods of determining soil organic carbon (SOC) content are generally simple, this becomes more challenging when carbonates are present in the soil; such is commonly found in semi-arid areas. Additionally, soil inorganic carbon (SIC) content itself is difficult to determine. This study uses visible near infrared (VisNIR) spectra to predict SOC and SIC contents of samples, and the impact of including soil pH and soil total carbon (STC) data as predictor variables was evaluated.

Humans identify negative (but not positive) arousal in silver fox vocalizations: implications for the adaptive value of interspecific eavesdropping.

The ability to identify emotional arousal in heterospecific vocalizations may facilitate behaviors that increase survival opportunities. Crucially, this ability may orient inter-species interactions, particularly between humans and other species. Research shows that humans identify emotional arousal in vocalizations across multiple species, such as cats, dogs, and piglets.

The Evolution of Musicality: What Can Be Learned from Language Evolution Research?

Language and music share many commonalities, both as natural phenomena and as subjects of intellectual inquiry. Rather than exhaustively reviewing these connections, we focus on potential cross-pollination of methodological inquiries and attitudes. We highlight areas in which scholarship on the evolution of language may inform the evolution of music.

Utterance-final position and pitch marking aid word learning in school-age children.

We investigated the effects of word order and prosody on word learning in school-age children. Third graders viewed photographs belonging to one of three semantic categories while hearing four-word nonsense utterances containing a target word. In the condition, all words had the same pitch and, across trials, the position of the target word was varied systematically within each utterance.

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data.

Humans recognize emotional arousal in vocalizations across all classes of terrestrial vertebrates: evidence for acoustic universals.

Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to infer emotional content.

Seeking Temporal Predictability in Speech: Comparing Statistical Approaches on 18 World Languages.

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit in the temporal structure of speech.

Emotional and Interactional Prosody across Animal Communication Systems: A Comparative Approach to the Emergence of Language.

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody - and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

More than words (and faces): evidence for a Stroop effect of prosody in emotion word processing.

Humans typically combine linguistic and nonlinguistic information to comprehend emotions. We adopted an emotion identification Stroop task to investigate how different channels interact in emotion communication. In experiment 1, synonyms of "happy" and "sad" were spoken with happy and sad prosody.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the last 15 years and to point out unusual phenotypic/genotypic features as well as enzyme replacement therapy (ERT) responses. We diagnosed 30 LOPD patients; at follow-up, they underwent motor, respiratory, cardiac and muscle MRI evaluations.