Acta Otolaryngol
September 2024
Background: Usher's syndrome type II (USH2) is a rare genetic disorder encompassing hearing loss, vision impairment, and apparent intact vestibular function. Recent research suggests a potential involvement of the otolith vestibular receptors in USH2.
Aims/objectives: Evaluate otolith dynamic function in USH2.
Objectives: To explore postural disability in Usher Syndrome (USH) patients using temporal posturographic analysis to better elucidate sensory compensation strategies of deafblind patients for posture control and correlate the Activities-specific Balance Confidence (ABC) scale with posturographic variables.
Design: Thirty-four genetically confirmed USH patients (11 USH1, 21 USH2, 2 USH 4) from the Otolaryngology Outpatient Clinic and 35 controls were prospectively studied using both classical and wavelet temporal analysis of center of pressure (CoP) under different visual conditions on static and dynamic platforms. The functional impact of balance was assessed with the ABC scale.
Introduction: ChatGPT has attracted a lot of interest worldwide for its versatility in a range of natural language tasks, including in the education and evaluation industry. It can automate time- and labor-intensive tasks with clear economic and efficiency gains.
Methods: This study evaluated the potential of ChatGPT to automate psychometric analysis of test questions from the 2020 Portuguese National Residency Selection Exam (PNA).
Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI).
View Article and Find Full Text PDFIntroduction: Appositional bone augmentation is considered a challenging surgical problem to correct for the deficient alveolar ridge. To overcome this challenge, a novel concept was recently published called "Barbell Technique." This technique has been used more commonly for horizontal bone augmentation.
View Article and Find Full Text PDFObjectives: Visual vertigo occurs after a vestibular disorder compromising daily living. It can be assessed by "the Visual Vertigo Analogue Scale" (VVAS), a self-administered questionnaire without Portuguese version. To perform the translation, cross cultural adaptation, and validation of VVAS from English to Portuguese.
View Article and Find Full Text PDFUsher syndrome (USH) is a condition characterized by ciliary dysfunction leading to retinal degeneration and hearing/vestibular loss. Putative olfactory deficits in humans have been documented at the psychophysical level and remain to be proven at the neurophysiological level. Thus, we aimed to study USH olfactory impairment using functional magnetic resonance imaging.
View Article and Find Full Text PDFBraz J Otorhinolaryngol
October 2021
Vet Rec
October 2020
Background: Despite appropriate antiseizure drug (ASD) treatment, around two-thirds of dogs with idiopathic epilepsy (IE) have seizures long-term and 20-30per cent of affected dogs remain poorly controlled.
Methods: The current study aim is to test in a field trial the efficacy and tolerability of a commercially available diet enriched with 6.5per cent medium chain triglyceride (MCT) oil in dogs (n=21) with at least a tier 1 idiopathic epilepsy diagnosis, without cluster seizures, in 10 veterinary practices across Europe.
Diseases involving cilia dysfunction, such as Usher Syndrome (USH), often involve visual and auditory loss. Psychophysical evidence has suggested that this may also hold true for the peripheral olfactory domain. Here we aimed to go a step further by attempting to establish relations between the integrity of cortical structures and olfactory function in this condition.
View Article and Find Full Text PDFIntroduction: There is a high heterogeneity in the structure of postgraduate medical training evaluation worldwide. However, in contrast to other countries, there have been no scientific studies of the final medical board examination, in Portugal. The present study aimed to evaluate the adequacy of the medical board examination including its validity as measured by its association with medical school grade average and national seriation examination.
View Article and Find Full Text PDFActa Otorrinolaringol Esp (Engl Ed)
January 2020
Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported. Recent evidence indicates that USH is likely to belong to an emerging class of sensory ciliopathies.
View Article and Find Full Text PDFTaste dysfunctions influence food choices, interpersonal communication and danger/health. A gustometry protocol is the mainstream for clinical taste disorders diagnosis and suggests possible therapeutics. No clinical gustometry protocol has been adapted and validated to the Portuguese population so far.
View Article and Find Full Text PDFThe cross-cultural adaptation and validation of the Sniffin`Sticks test for the Portuguese population is described. Over 270 people participated in four experiments. In Experiment 1, 67 participants rated the familiarity of presented odors and seven descriptors of the original test were adapted to a Portuguese context.
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