Very late-onset friedreich ataxia with laryngeal dystonia

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA), after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA), after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances) occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA

Thymus vulgaris Essential Oil in Beta-Cyclodextrin for Solid-State Pharmaceutical Applications

: Antimicrobial resistance related to the misuse of antibiotics is a well-known current topic. Their excessive use in several fields has led to enormous selective pressure on pathogenic and commensal bacteria, driving the evolution of antimicrobial resistance genes with severe impacts on human health. Among all the possible strategies, a viable one could be the development of medical features that employ essential oils (EOs), complex natural mixtures extracted from different plant organs, rich in organic compounds showing, among others, antiseptic properties. In this work, green extracted essential oil of Thymus vulgaris was included in cyclic oligosaccharides cyclodextrins (CD) and prepared in the form of tablets. This essential oil has been shown to have a strong transversal efficacy both as an antifungal and as an antibacterial agent. Its inclusion allows its effective use because an extension of the exposure time to the active compounds is obtained and, therefore, a more marked efficacy, especially against biofilm-producing microorganisms such as P. aeruginosa and S. aureus, was registered. The efficacy of the tablet against candidiasis opens their possible use as a chewable tablet against oral candidiasis and as a vaginal tablet against vaginal candidiasis. Moreover, the registered wide efficacy is even more positive since the proposed approach can be defined as effective, safe, and green. In fact, the natural mixture of the essential oil is produced by the steam current method; therefore, the manufacturer employs substances that are not harmful, with very low production and management costs

The Role of Needle Fear in Pediatric Flu Vaccine Hesitancy: A Cross-Sectional Study in Bologna Metropolitan Area

: (1) Background: vaccination is the most effective way to prevent influenza and reduce its complications. The main aim of the study is to assess a possible increase of parents'/caregivers' pediatric flu vaccination adherence due to a nasal administration as an alternative to injection in Bologna. (2) Methods: 169 parents/guardians of children who were joining the COVID-19 pediatric vaccination session in Bologna were interviewed. The results were summarized using descriptive statistics. A multiple logistic regression model was used to assess the determinants of the change in flu vaccine uptake if offered without injection administration. All analyses were conducted using STATA and R-Studio software. (3) Results: Only 29.0% of parents were informed about pediatric flu vaccination by pediatricians, and 32.5% heard about pediatric flu vaccination. Almost 72.2% of parents declared that they would not have their children vaccinated against influenza. Thus, 40.2% of them changed their opinion after being informed about the existence of a non-injective vaccine. Needle fear in children turned out to be a determinant of this opinion change (OR = 3.79; 95% CI = 1.63-9.43; p = 0.003). (4) Conclusions: the study has confirmed that needle fear is a determinant of vaccine hesitancy and that a different method of administration may increase parents'/guardians' adherence

Power variability of tidal-stream energy and implications for electricity supply

Temporal variability in renewable energy presents a major challenge for electrical grid systems. Tides are considered predictable due to their regular periodicity; however, the persistence and quality of tidal-stream generated electricity is unknown. This paper is the first study that attempts to address this knowledge gap through direct measurements of rotor-shaft power and shore-side voltage from a 1 MW, rated at grid-connection, tidal turbine (Orkney Islands, UK). Tidal asymmetry in turbulence parameters, flow speed and power variability were observed. Variability in the power at 0.5 Hz, associated with the 10-min running mean, was low (standard deviation 10–12% of rated power), with lower variability associated with higher flow speed and reduced turbulence intensity. Variability of shore-side measured voltage was well within acceptable levels (∼0.3% at 0.5 Hz). Variability in turbine power had <1% difference in energy yield calculation, even with a skewed power variability distribution. Finally, using a “t-location” distribution of observed fine-scale power variability, in combination with an idealised power curve, a synthetic power variability model reliably downscaled 30 min tidal velocity simulations to power at 0.5 Hz (R2 = 85% and ∼14% error). Therefore, the predictability and quality of tidal-stream energy may be undervalued in a future, high-penetration renewable energy, electricity grid

Influence of Ti and Cr Adhesion Layers on Ultrathin Au Films

Efficient adhesion of gold thin films on dielectric or semiconductor substrates is essential in applications and research within plasmonics, metamaterials, 2D materials, and nanoelectronics. As a consequence of the relentless downscaling in nanoscience and technology, the thicknesses of adhesion layer and overlayer have reached tens of nanometers, and it is unclear if our current understanding is sufficient. In this report, we investigated how Cr and Ti adhesion layers influence the nanostructure of 2–20 nm thin Au films by means of high-resolution electron microscopy, complemented with atomic force microscopy and X-ray photoelectron spectroscopy. Pure Au films were compared to Ti/Au and Cr/Au bilayer systems. Both Ti and Cr had a striking impact on grain size and crystal orientation of the Au overlayer, which we interpret as the adhesion layer-enhanced wetting of Au and the formation of chemical bonds between the layers. Ti formed a uniform layer under the Au overlayer. Cr interdiffused with the Au layer forming a Cr–Au alloy. The crystal orientation of the Au layers was mainly [111] for all thin-film systems. The results showed that both adhesion layers were partially oxidized, and oxidation sources were scrutinized and found. A difference in bilayer electrical resistivity between Ti/Au and Cr/Au systems was measured and compared. On the basis of these results, a revised and more detailed adhesion layer model for both Ti/Au and Cr/Au systems was proposed. Finally, the implications of the results were analyzed, and recommendations for the selection of adhesion layers for nano-optics and nanoelectronics applications are presented