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Abstract Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). Methods People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. Results 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73–0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51–0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B). Conclusions PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution.

Objective To investigate which factors influence the adherence to hearing aid (HA) use in elderly patients with moderate-to-severe hearing loss. Methods This observational, prospective, single-centre study enrolled patients with moderate-to-severe hearing loss. They were evaluated before and 1 year after having either one or two HAs fitted. Results A total of 86 patients were enrolled in the study and of these 69.8% (60 of 86; USER group) continued to use their HA at 1 year after fitting; six patients had not continued their use (NON-USERS). The USER group was younger than the NON-USER group, but the difference was not significant. The USER group had a significantly better unaided auditory threshold at baseline than the NON-USER group. HA use resulted in improvements in speech audiometry and auditory threshold. There was also a maintenance of cognitive function in the USER group. Conclusion Use of HA for 1 year resulted in improved auditory performance and an absence of a deterioration of cognitive function. Trial registration: This research was retrospectively registered under no. NCT04333043 at ClinicalTrials.gov ( http://www.clinicaltrials.gov/ ) on the 26 March 2020. This research has been registered with the Ethics Committee of the Area Vasta Emilia Nord under number 104, date of approval 17/07/2017.

There are several pathologies that can change the anatomy of the otic capsule and that can distort the bone density of the bony structures of the inner ear, but otosclerosis is one of the most frequent. Similar behavior has been shown in patients affected by osteogenesis imperfecta (OI), a genetic disorder due to a mutation in the genes coding for type I (pro) collagen. In particular, we note that otosclerosis and OI can lead to bone resorption creating pericochlear cavitations in contact with the internal auditory canal (IAC). In this regard, we have collected five cases presenting this characteristic; their audiological data and clinical history were analyzed. This feature can be defined as a potential cause of a third-window effect, because it causes an energy loss during the transmission of sound waves from the oval window (OW) away from the basilar membrane.

Mandarin, a globally recognized fruit esteemed for its nutritional content and bioactive compounds, as well as aromatic qualities, faces the critical challenge of post-harvest shelf life impacting its marketability and appeal to consumers. This study aims to assess the efficacy of edible coatings in preserving “Tardivo di Ciaculli” mandarin (Citrus reticulata Blanco cv. Tardivo di Ciaculli). Two distinct edible coating formulations, denoted as EC1(comprising gellan gum, glycerol, calcium chloride, and distilled water) and EC2 (comprising gellan gum, glycerol, calcium chloride, distilled water, and 2% oregano essential oil), were subjected to comparative analysis against control samples (CTR). In the experimental trial, mandarin fruits were immersed in the respective edible coating solutions for approximately 5 min and promptly stored at 6 ± 1°C. Qualitative, nutraceutical, microbiological, and sensory analyses were conducted throughout the cold storage period (7, 14, and 24 days at 6 ± 1°C) and during three distinct shelf-life phases (I shelf-life: 7 days at 6 ± 1°C plus 7 days at 15 ± 1°C; II shelf-life: 14 days at 6 ± 1°C plus 7 days at 15 ± 1°C; III shelf-life: 24 days at 6 ± 1°C plus 7 days at 15 ± 1°C). Chemical analysis of the oregano essential oil in EC2 revealed the presence of 27 compounds, with carvacrol being the predominant chemical, constituting 83.42% of the total oil. The findings indicate that the application of edible coatings effectively preserved the quality parameters of mandarin fruits, minimizing weight loss and water loss. Notably, the microbiological analysis, using a culture-dependent approach, demonstrated that EC2, incorporating oregano essential oil, exhibited the capability to diminish the viability of molds throughout the entire study duration, thereby extending the shelf life of mandarin fruits.

Background: It is known that subjects with a cochlear implant (CI) need to exert more listening effort to achieve adequate speech recognition compared to normal hearing subjects. One tool for assessing listening effort is pupillometry. The aim of this study is to evaluate the effectiveness of adaptive directional microphones in reducing listening effort for CI recipients. Methods: We evaluated listening in noise and listening effort degree (by pupillometry) in eight bimodal subjects with three types of CI microphones and in three sound configurations. Results: We found a correlation only between sound configurations and listening in noise score (p-value 0.0095). The evaluation of the microphone types shows worse scores in listening in noise with Opti Omni (+3.15 dB SNR) microphone than with Split Dir (+1.89 dB SNR) and Speech Omni (+1.43 dB SNR). No correlation was found between microphones and sound configurations and within the pupillometric data. Conclusions: Different types of microphones have different effects on the listening of CI patients. The difference in the orientation of the sound source is a factor that has an impact on the listening effort results. However, the pupillometry measurements do not significantly correlate with the different microphone types.

The Fregeneda-Almendra pegmatite field of the Iberian Massif represents a typical expression of peraluminous rare-metal magmatism that occurred over western Europe at the end of the Variscan orogeny. It is the host for two main types of Li-mineralized intrusions, identified at the scale of the Variscan belt, including petalite- or spodumene-rich pegmatites, as well as Li-mica-rich pegmatites, for which the origin of mineralogical-chemical differences is not yet understood. Here, we provide cassiterite and columbite-group mineral (CGM) U-Pb ages along with oxide, mica and phosphate mineral compositions for Li-pegmatites from the Fregeneda-Almendra field in order to assess their petrogenesis and tectonic-magmatic context of emplacement. U-Pb geochronology indicates that petalite-rich and Li-mica-rich pegmatites were mostly emplaced sub-synchronously from 315 ± 6 to 308 ± 6 Ma, during strike-slip deformation and granitic magmatism within an anatectic dome bounding the pegmatite field. U-Pb data and pegmatite geographic zonation suggest that Li-pegmatites were sourced from buried equivalents of leucogranites and migmatites from the dome. Li-pegmatites experienced a complex crystallization including K-feldspar, petalite, topaz, Nb-Ta-Fe-Mn-rich cassiterite, amblygonite-group minerals (AGM) and CGM as early magmatic phases, followed by lepidolite for Li-mica-rich pegmatites. At the magmatic-hydrothermal transition, notably leading to the formation of Nb-Ta-Mn-Fe-poor cassiterite hosting CGM inclusions, earlier minerals were resorbed by muscovite and albite. A later F-rich hydrothermalism is locally reflected by zinnwaldite overgrowths on muscovite. Cassiterite, CGM and micas from petalite-rich pegmatites show lower Mn/Fe ratios and higher Ti contents, along with lower Zr-Ga contents for cassiterite, than that from Li-mica-rich pegmatites. Such behavior is consistent with a magmatic differentiation process whereby Ti content decreased and the degree of Mn-Fe geochemical fractionation and solubilities of Ga and Zr increased in the melts, possibly in relation with high fluorine activity. In Li-mica-rich pegmatites, AGM equilibrated with a melt with up to 2 wt% F, similar to that in equilibrium with lepidolite (1–3 wt%). In petalite-rich pegmatites, the relatively high F concentration of the melts equilibrated with AGM (≤ 1.5 wt% F) contrasts with the liquid equilibrated with muscovite (< 0.5 wt% F). This can be accounted for by muscovite crystallization after the exsolution of a F-rich aqueous phase at the magmatic-hydrothermal transition. Relatively similar F contents in the initial melts of petalite- and Li-mica-rich pegmatites support the hypothesis that the stability of lepidolite does not only involve high F but also a low H2O/F activity ratio. For the Fregeneda-Almendra Li-mica-rich pegmatites, this could be explained by a decrease of melt H2O solubility due to a relatively low pressure of emplacement.

Background and Objectives. Pelvic floor tension myalgia (PFTM) represents a pelvic floor dysfunction related to increased activity or hypertonicity of pelvic floor muscles that leads to chronic pelvic pain or miofascial syndrome. In the current research, we assess the efficacy and safety of a device that uses top flat magnetic stimulation for the management of hypertonicity in women with chronic pelvic pain and interstitial cystitis. Materials and Methods. Vulvar Functional Status Questionnaire (VQ) was used for the evaluation of patient’s chronic pelvic pain and muscle hypertone improvements. The interstitial cystitis was assessed by the Leary–Sant symptom and problem indexes (ICSI and ICPI). In this study, the scores resulting from the sum of the two indexes were evaluated as OSS (ICSI + ICPI). Results. Women with chronic pelvic pain and muscle hypertone showed VQ mean values significantly lower than the controls p

Abstract Objective Our aim was to assess diagnostic accuracy in the prediction of small for gestational age (SGA

Abstract Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives. The INRF has gathered data from molecular analysis, clinical evaluation, anamnestic information, and family history from more than 3500 participants. Methods A data management framework, called Mediator Environment for Multiple Information Sources (MOMIS) FSHD Web Platform, has been developed to provide charts, maps and search tools customized for specific needs. Patients’ samples and their clinical information derives from the Italian Clinical network for FSHD (ICNF), a consortium consisting of fourteen neuromuscular clinics distributed across Italy. The tools used to collect, integrate, and visualize clinical, molecular and natural history information about patients affected by FSHD and their relatives are described. Results The INRF collected the molecular data regarding FSHD diagnosis conducted on 7197 subjects and identified 3362 individuals carrying a D4Z4 Reduced Allele (DRA): 1634 were unrelated index cases. In 1032 cases the molecular testing has been extended to 3747 relatives, 1728 carrying a DRA. Since 2009 molecular analysis has been accompanied by clinical evaluation based standardized evaluation protocols. In the period 2009–2020, 3577 clinical forms have been collected, 2059 follow the Comprehensive Clinical Evaluation form (CCEF). The integration of standardized clinical information and molecular data has made possible to demonstrate the wide phenotypic variability of FSHD. The MOMIS (Mediator Environment for Multiple Information Sources) data integration framework allowed performing genotype–phenotype correlation studies, and generated information of medical importance either for clinical practice or genetic counseling. Conclusion The platform implemented for the FSHD Registry data collection based on OpenClinica meets the requirement to integrate patient/disease information, as well as the need to adapt dynamically to security and privacy concerns. Our results indicate that the quality of data collection in a multi-integrated approach is fundamental for clinical and epidemiological research in a rare disease and may have great value in allowing us to redefine diagnostic criteria and disease markers for FSHD. By extending the use of the MOMIS data integration framework to other countries and the longitudinal systematic collection of standardized clinical data will facilitate the understanding of disease natural history and offer valuable inputs towards trial readiness. This approach is of high significance to FSHD medical community and also to rare disease research in general.

ObjectiveEquinus foot deformity (EFD) is the most common deformity following a stroke. Several approaches have been suggested for its correction, including pharmacological, surgical, and physical therapy (PT) interventions. This scoping review aims to map and synthesize the available evidence focusing on physical therapy treatments for EFD caused by triceps surae (TS) spasticity.MethodsScoping review methodological frameworks have been used. Pubmed, Cinahl, and Cochrane databases were searched for primary literature. Studies focusing on the treatment of EFD in adult stroke patients were included only when the intervention involved PT treatments and presented at least one outcome measure for the functional and/or structural condition of the TS. Data were systematically collected and reported in tables inclusive of type of intervention, sample characteristics, dosage, comparators, outcomes, follow-up timeline, and treatment efficacy. A narrative synthesis was also added.ResultsOf the 642 experimental or observational screened studies, 53 were included, focusing on stretching exercises, shock waves, electrical stimulation, dry needling, TENS, vibration therapy, ultrasounds, cryotherapy, and active physiotherapy. Patients with EFD benefited from specific physical therapy treatments. These usually resulted in Modified Ashworth Scale reduction, typically by 1 point, and an increase in ROM. Interventions consisting of shock waves, dry needling, and electrostimulation showed the best results in reducing EFD. Heterogeneous dosage and delivery mode generally limited conclusions.ConclusionsThis scoping review summarized available primary literature based on PT treatments for the correction of EFD. By highlighting the remaining gaps in knowledge, it provides a reference for future studies on this pathology. Further investigations are necessary to pinpoint the best dosage and delivery methods. Future studies should investigate whether early rehabilitation programs started during the acute phase might help prevent or limit the development of secondary deformities.

In the present work, oregano essential oils (OEOs) were applied to process the fresh ovine cheese “Tuma” obtained by pressed cheese technology. Cheese making trials were performed under industrial conditions using ewe’s pasteurized milk and two strains of Lactococcus lactis (NT1 and NT4) as fermenting agents. Two experimental cheese products (ECP) were obtained through the addition of 100 (ECP100) and 200 (ECP200) µL/L of OEO to milk, while the control cheese product (CCP) was OEO-free. Both Lc. lactis strains showed in vitro and in vivo ability to grow in the presence of OEOs and to dominate over indigenous milk lactic acid bacteria (LAB) resistant to pasteurization. In the presence of OEOs, the most abundant compound found in cheese was carvacrol, constituting more than 65% of the volatile fraction in both experimental products. The addition of OEOs did not influence ash, fat, or protein content, but it increased by 43% the antioxidant capacity of the experimental cheeses. ECP100 cheeses showed the best appreciation scores by the sensory panel. In order to investigate the ability OEOs to be used as a natural preservative, a test of artificial contamination was carried out, and the results showed a significant reduction of the main dairy pathogens in OEO-added cheeses.

Grayscale abdomen ultrasound (US) is routinely performed in pregnant women with suspected pregnancy-related liver dysfunction, but its diagnostic yield is very low. We aimed to investigate the association between Doppler-US findings, liver stiffness measurement (LSM) and different causes of pregnancy-related liver dysfunction. This is a prospective cohort study of pregnant women referred to our tertiary center for any suspected gastrointestinal disease between 2017 and 2019 and undergoing Doppler-US and liver elastography. Patients with previous liver disease were excluded from the analysis. For group comparisons of categorical and continuous variables, the chi-square test or Mann–Whitney test, and the McNemar test were used, as appropriate. A total of 112 patients were included in the final analysis, of whom 41 (36.6%) presented with suspected liver disease: 23 intrahepatic cholestasis of pregnancy (ICP), six with gestational hypertensive disorders and 12 cases with undetermined causes of elevated liver enzymes. Values of LSM were higher and significantly associated with a diagnosis of gestational hypertensive disorder (AUROC = 0.815). No significant differences at Doppler-US or LSM were found between ICP patients and controls. Patients with undetermined causes of hypertransaminasemia showed higher hepatic and splenic resistive indexes than controls, suggesting splanchnic congestion. The evaluation of Doppler-US and liver elastography is clinically useful in patients with suspected liver dysfunction during pregnancy. Liver stiffness represents a promising non-invasive tool for the assessment of patients with gestational hypertensive disorders.