Implementation and Characterization of Vibrotactile Interfaces

While a standard approach is more or less established for rendering basic vibratory cues in consumer electronics, the implementation of advanced vibrotactile feedback still requires designers and engineers to solve a number of technical issues. Several off-the-shelf vibration actuators are currently available, having different characteristics and limitations that should be considered in the design process. We suggest an iterative approach to design in which vibrotactile interfaces are validated by testing their accuracy in rendering vibratory cues and in measuring input gestures. Several examples of prototype interfaces yielding audio-haptic feedback are described, ranging from open-ended devices to musical interfaces, addressing their design and the characterization of their vibratory output

Application of latent class analysis in assessing the awareness, attitude, practice and satisfaction of paediatricians on sleep disorder management in children in Italy.

AIM: To identify subgroups regarding paediatricians' awareness, attitude, practice and satisfaction about management of Sleep-Disordered Breathing (SDB) in Italy using Latent Class Analysis (LCA). METHODS: A cross-sectional study was conducted on a large sample of Italian paediatricians. Using a self-administered questionnaire, the study collected information on 420 Paediatric Hospital Paediatricians (PHPs) and 594 Family Care Paediatricians (FCPs). LCA was used to discover underlying response patterns, thus allowing identification of respondent groups with similar awareness, attitude, practice and satisfaction. A logistic regression model was used to investigate which independent variables influenced latent class membership. Analyses were performed using R 3.5.2 software. A p-value<0.05 was considered statistically significant. RESULTS: Two classes were identified: Class 1 (n = 368, 36.29%) "Untrained and poorly satisfied" and Class 2 (n = 646, 63.71%) "Trained and satisfied." Involving paediatric pneumologists or otorhinolaryngologists in clinical practice was associated with an increased probability of Class 2 membership (OR = 5.88, 95%CI [2.94-13.19]; OR = 15.95, 95% CI [10.92-23.81] respectively). Examining more than 20 children with SDB during the last month decreased the probability of Class 2 membership (OR = 0.29, 95% CI [0.14-0.61]). FCPs showed a higher probability of Class 2 membership than PHPs (OR = 4.64, 95% CI [3.31-6.55]). CONCLUSIONS: These findings suggest that the LCA approach can provide important information on how education and training could be tailored for different subgroups of paediatricians. In Italy standardized educational interventions improving paediatricians' screening of SDB are needed in order to guarantee efficient management of children with SDB and reduce the burden of disease

Perception of Vibrotactile Cues in Musical Performance

We suggest that studies on active touch psychophysics are needed to inform the design of haptic musical interfaces and better understand the relevance of haptic cues in musical performance. Following a review of the previous literature on vibrotactile perception in musical performance, two recent experiments are reported. The first experiment investigated how active finger-pressing forces affect vibration perception, finding significant effects of vibration type and force level on perceptual thresholds. Moreover, the measured thresholds were considerably lower than those reported in the literature, possibly due to the concurrent effect of large (unconstrained) finger contact areas, active pressing forces, and long-duration stimuli. The second experiment assessed the validity of these findings in a real musical context by studying the detection of vibrotactile cues at the keyboard of a grand and an upright piano. Sensitivity to key vibrations in fact not only was highest at the lower octaves and gradually decreased toward higher pitches; it was also significant for stimuli having spectral peaks of acceleration similar to those of the first experiment, i.e., below the standard sensitivity thresholds measured for sinusoidal vibrations under passive touch conditions

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, pae-diatric epilepsy, intellectual disability (ID) and autism. In addition to point mutations, duplications of the ARX locus have been detected in male patients with ID. These rearrangements include telen-cephalon ultraconserved enhancers, whose structural alterations can interfere with the control of ARX expression in the developing brain. Here, we review the structural features of 15 gain copy-number variants (CNVs) of the ARX locus found in patients presenting wide-ranging phenotypic variations including ID, speech delay, hypotonia and psychiatric abnormalities. We also report on a further novel Xp21.3 duplication detected in a male patient with moderate ID and carrying a fully duplicated copy of the ARX locus and the ultraconserved enhancers. As consequences of this rearrangement, the patient-derived lymphoblastoid cell line shows abnormal activity of the ARX-KDM5C-SYN1 regulatory axis. Moreover, the three-dimensional (3D) structure of the Arx locus, both in mouse embryonic stem cells and cortical neurons, provides new insight for the functional consequences of ARX duplications. Finally, by comparing the clinical features of the 16 CNVs affecting the ARX locus, we conclude that—depending on the involvement of tissue-specific enhancers—the ARX duplications are ID-associated risk CNVs with variable expressivity and penetrance

Auditory and tactile gap discrimination by observers with normal and impaired hearing

Temporal processing ability for the senses of hearing and touch was examined through the measurement of gap-duration discrimination thresholds (GDDTs) employing the same low-frequency sinusoidal stimuli in both modalities. GDDTs were measured in three groups of observers (normal-hearing, hearing-impaired, and normal-hearing with simulated hearing loss) covering an age range of 21–69 yr. GDDTs for a baseline gap of 6 ms were measured for four different combinations of 100-ms leading and trailing markers (250–250, 250–400, 400–250, and 400–400 Hz). Auditory measurements were obtained for monaural presentation over headphones and tactile measurements were obtained using sinusoidal vibrations presented to the left middle finger. The auditory GDDTs of the hearing-impaired listeners, which were larger than those of the normal-hearing observers, were well-reproduced in the listeners with simulated loss. The magnitude of the GDDT was generally independent of modality and showed effects of age in both modalities. The use of different-frequency compared to same-frequency markers led to a greater deterioration in auditory GDDTs compared to tactile GDDTs and may reflect differences in bandwidth properties between the two sensory systems.National Institute on Deafness and Other Communication Disorders (U.S.) (Grant R01 DC000117

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

Objective: Narcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the \u201cAssociazione Italiana Narcolettici e Ipersonni\u201d is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians. Materials and methods: A multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags. Results: Red Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis. Conclusions: This report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe

A critical experimental study of the classical tactile threshold theory

<p>Abstract</p> <p>Background</p> <p>The tactile sense is being used in a variety of applications involving tactile human-machine interfaces. In a significant number of publications the classical threshold concept plays a central role in modelling and explaining psychophysical experimental results such as in stochastic resonance (SR) phenomena. In SR, noise enhances detection of sub-threshold stimuli and the phenomenon is explained stating that the required amplitude to exceed the sensory threshold barrier can be reached by adding noise to a sub-threshold stimulus. We designed an experiment to test the validity of the classical vibrotactile threshold. Using a second choice experiment, we show that individuals can order sensorial events below the level known as the classical threshold. If the observer's sensorial system is not activated by stimuli below the threshold, then a second choice could not be above the chance level. Nevertheless, our experimental results are above that chance level contradicting the definition of the classical tactile threshold.</p> <p>Results</p> <p>We performed a three alternative forced choice detection experiment on 6 subjects asking them first and second choices. In each trial, only one of the intervals contained a stimulus and the others contained only noise. According to the classical threshold assumptions, a correct second choice response corresponds to a guess attempt with a statistical frequency of 50%. Results show an average of 67.35% (STD = 1.41%) for the second choice response that is not explained by the classical threshold definition. Additionally, for low stimulus amplitudes, second choice correct detection is above chance level for any detectability level.</p> <p>Conclusions</p> <p>Using a second choice experiment, we show that individuals can order sensorial events below the level known as a classical threshold. If the observer's sensorial system is not activated by stimuli below the threshold, then a second choice could not be above the chance level. Nevertheless, our experimental results are above that chance level. Therefore, if detection exists below the classical threshold level, then the model to explain the SR phenomenon or any other tactile perception phenomena based on the psychophysical classical threshold is not valid. We conclude that a more suitable model of the tactile sensory system is needed.</p

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Cardiomyopathies (CMPs) represent a diverse group of heart muscle diseases, grouped into specific morphological and functional phenotypes. CMPs are associated with mutations in sarcomeric and non-sarcomeric genes, with several suspected epigenetic and environmental mechanisms involved in determining penetrance and expressivity. The understanding of the underlying molecular mechanisms of myocardial diseases is fundamental to achieving a proper management and treatment of these disorders. Among these, inflammation seems to play an important role in the pathogenesis of CMPs. The aim of the present study is to review the current knowledge on the role of inflammation and the immune system activation in the pathogenesis of CMPs and to identify potential molecular targets for a tailored anti-inflammatory treatment

Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders