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Ultrasonography has been extensively used to evaluate skeletal muscle morphology. The echo intensity, i.e., the mean pixel intensity of a specific region of interest in an ultrasound image, may vary among muscles and individuals with several intramuscular parameters presumed to influence it. The purpose of this study was to investigate the correlation between muscle echo intensity and muscle fiber type composition in humans. Thirteen female physical education students (age: 22.3 ± 5.4 years, height: 1.63 ± 0.06 m, body mass: 59.9 ± 7.4 kg) with no history of systematic athletic training participated in the study. Body composition with dual X-ray absorptiometry, leg-press maximum strength (1-RM), echo intensity, and the cross-sectional area (CSA) of the vastus lateralis (VL) muscle according to ultrasonography were measured. Muscle biopsies were harvested from the VL site where the echo intensity was measured. VL echo intensity was not significantly correlated with the percentage of type I muscle fibers or with the percentage area of type I muscle fibers. However, when VL echo intensity was corrected for the subcutaneous fat thickness at the site of the measurement, it was significantly correlated with the percentage of type I muscle fibers (r = 0.801, p < 0.01) and the percentage area of type I muscle fibers (r = 0.852, p < 0.01). These results suggest that the echo intensity of the vastus lateralis muscle corrected for the subcutaneous fat thickness at the measurement site may provide an estimate of the muscle fiber type composition, at least in young moderately trained females.

Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. miRNAs are small RNA molecules characterized by high stability in blood thus making them ideal biomarker candidates for various diseases. In this study, we present the first genome-wide next-generation small RNA sequencing in serum samples of five different types of muscular dystrophy patients and healthy individuals. We identified many small RNAs including miRNAs, lncRNAs, tRNAs, snoRNAs and snRNAs, that differentially discriminate the muscular dystrophy patients from the healthy individuals. Further analysis of the identified miRNAs showed that some miRNAs can distinguish the muscular dystrophy patients from controls and other miRNAs are specific to the type of muscular dystrophy. Bioinformatics analysis of the target genes for the most significant miRNAs and the biological role of these genes revealed different pathways that the dysregulated miRNAs are involved in each type of muscular dystrophy investigated. In conclusion, this study shows unique signatures of small RNAs circulating in five types of muscular dystrophy patients and provides a useful resource for future studies for the development of miRNA biomarkers in muscular dystrophies and for their involvement in the pathogenesis of the disorders.

Abstract Objective Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and multisystem proteinopathy. Here we studied families with an autosomal dominant muscle disease caused by ANXA11:c.118G > T;p.D40Y. Methods We performed deep phenotyping and exome sequencing of patients from four large Greek families, including seven affected individuals with progressive muscle disease but no family history of multi‐organ involvement or ALS. Results In our study, all patients presented with an autosomal dominant muscular dystrophy without any Paget disease of bone nor signs of frontotemporal dementia or Parkinson's disease. Histopathological analysis showed rimmed vacuoles with annexin A11 accumulations. Electron microscopy analysis showed myofibrillar abnormalities with disorganization of the sarcomeric structure and Z‐disc dissolution, and subsarcolemmal autophagic material with myeloid formations. Molecular genetic analysis revealed ANXA11:c.118G > T;p.D40Y segregating with the phenotype. Interpretation Although the pathogenic mechanisms associated with p.D40Y mutation in the prion‐like domain of Annexin A11 need to be further clarified, our study provides robust and clear genetic evidence to support the expansion of the phenotypic spectrum of ANXA11.

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients’ care. Limited work, however, has been performed on rare diseases, including DM1. We have previously shown that specific microRNAs (miRNAs) can be used as potential biomarkers for DM1 progression. In this report, we aimed to identify novel serum-based biomarkers for DM1 through high-throughput next-generation sequencing. A number of miRNAs were identified that are able to distinguish DM1 patients from healthy individuals. Two miRNAs were selected, and their association with the disease was validated in a larger panel of patients. Further investigation of miR-223-3p, miR-24-3p, and the four previously identified miRNAs, miR-1-3p, miR-133a-3p, miR-133b-3p, and miR-206-3p, showed elevated levels in a DM1 mouse model for all six miRNAs circulating in the serum compared to healthy controls. Importantly, the levels of miR-223-3p, but not the other five miRNAs, were found to be significantly downregulated in five skeletal muscles and heart tissues of DM1 mice compared to controls. This result provides significant evidence for its involvement in disease manifestation.

Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here we describe the clinical, histological and radiological features of a Greek patient with a myofibrillar myopathy and cardiomyopathy linked to the c.734A>G,p.(Glu245Gly) heterozygous variant in the DES gene. Moreover, through ribonucleic acid sequencing analysis in skeletal muscle we show that this variant provokes a defect in exon 3 splicing and thus should be considered clearly pathogenic.

The aim of this research was to evaluate the abrasive dentin wear that can be induced by three commercial whitening toothpastes following a tooth-brushing simulation (TBS) corresponding to a three-month period. Sixty human canines were selected, and the roots were separated from the crowns. Then the roots were randomly divided into six groups (n = 10) and were submitted to TBS using the following slurries: Group 1—deionized water (RDA = 5); Group 2—ISO dentifrice slurry (RDA = 100); Group 3—a regular toothpaste (RDA = 70); Group 4—a charcoal-containing whitening toothpaste; Group 5—a whitening toothpaste containing blue covasorb and hydrated silica; and Group 6—a whitening toothpaste containing microsilica. Following TBS, surface loss and surface roughness changes were evaluated using confocal microscopy. Additionally, surface morphology and mineral content changes were observed using scanning electron microscopy and energy-dispersive X-ray spectroscopy. The deionized water group presented the lowest surface loss (p < 0.05), while the charcoal-containing toothpaste presented the highest surface loss, followed by ISO dentifrice slurry (p < 0.001). Blue-covasorb-containing and regular toothpastes did not present statistically significant differences (p = 0.245), and neither didmicrosilica-containing toothpaste or ISO dentifrice slurry (p = 0.112). The surface height parameters and surface morphology changes of the experimental groups followed the surface loss patterns, while no differences were detected in mineral content after TBS.Although the charcoal-containing toothpaste exhibited the highest abrasive wear to dentin, according to ISO 11609, all the tested toothpastes exhibited appropriate abrasive behavior towards dentin.

The potential formation and the size of microgaps at the material/dentin interface after various surface modifications of a resin-matrix computer-aided design/computer-aided manufacturing (CAD/CAM) ceramic following artificial aging was investigated. Fifty human third molars were used, and a resin-matrix CAD/CAM ceramic, Lava Ultimate, and a resin cement material, Rely X Ultimate, were tested. CAD/CAM blocks were sectioned, and each slab was luted on the tooth surface using the same resin cement. The surface material was modified using the following treatments: Group 1—no treatment (control); Group 2—hydrofluoric acid (HF) + silane; Group 3—air abrasion with Al2O3 particles (29 μm); Group 4—air abrasion with Al2O3 particles (53 μm); and Group 5—erbium, chromium:yttrium–scandium–gallium–garnet (Er,Cr:YSGG) (2780 nm) laser treatment. The specimens were submitted to thermocycling (5000 cycles: 5 °C–55 °C) and then transversely cut in the middle and examined using scanning electron microscopy (SEM) and energy-dispersive X-ray spectroscopy (EDS). Larger microgaps were observed in the control and laser-treated groups, with no significant differences (p = 0.452). By contrast, the other three groups presented lower microgap formation, and in some cases, no microgaps were detected. Air-abrasion groups exhibited the lowest microgap formation (p < 0.05). Different surface modifications of the material presented significant differences in the formation of microgaps at the adhesive interface after artificial aging, implying differences in bond strengths among the groups. Air-abrasion pretreatments with Al2O3 particles presented more beneficial results regarding microgap formation.

Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994–2020. The mean age at onset of symptoms was 26.2 ± 15.3 years in DM1 versus 44.4 ± 17.0 years in DM2 patients, while the delay of diagnosis was 10 and 7 years for DM1 and DM2 patients, respectively. Muscle weakness was the first symptom in both types, while myotonia was more frequent in DM1 patients. Multisystemic involvement was detected in the great majority of patients, with cataracts being one of the most common extramuscular manifestations, even in the early stages of disease expression. In conclusion, the present work, despite some limitations arising from the retrospective collection of data, is the first record of a large number of Greek patients with myotonic dystrophy and emphasizes the need for specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.

Abstract Patients with myasthenia gravis treated with methotrexate are usually young and sexually active. Therefore, sexual dysfunction associated with MTX treatment should be considered and specifically searched in them as it can be an under‐recognized cause of treatment failure or poor compliance

The aim of the study was to investigate the relationships between vastus lateralis muscle fiber length and fiber type composition in individuals with minimal exposure to systematic resistance/power training. In sixty female physical education students (age: 21.03 ± 2.1 years, body weight: 59.8 ± 9.7 kg, body height: 166.2 ± 6.5 cm), with no experience in systematic training, lean body mass, VL muscle architecture and fiber composition type, countermovement jumping (CMJ) performance, and isometric leg press rate of force development were evaluated. Data were analyzed for all participants, as well as two equally numbered groups assigned according to their maximum countermovement jumping power (High-Power or Low-Power group). Significant but low correlations were found between type II muscle fiber percentage and fascicle length (N = 60, p < 0.05). Significant correlations were found between type IIa and IIx muscle fiber percentage cross-sectional area (%CSA) and fascicle length (N = 60; r = 0.321, and r = 0.378; respectively, p < 0.05). These correlations were higher for the High-Power group (r = 0.499, and r = 0.522; respectively, p < 0.05), and lower, and nonsignificant, for the Low-Power group. The best predictor of strength/power performance was the lean body mass of the lower extremities (r = 0.389–0.645, p < 0.05). These results suggest that in females with minimal exposure to systematic training, fascicle length may be weakly linked with type II fiber areas, only in females with high-power profiles.

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.

Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. We propose that the association of LOPD and arteriopathy should always be considered in clinical practice. Keywords: Muscle disease, Glycogenoses, Metabolic disease (inherited), All clinical neurology

The aim of the study was to evaluate power performance and muscle morphology adaptations in response to 5 weeks of fast-eccentric squat training (FEST) performed twice per week, with three different training volumes. Twenty-five moderately trained females were assigned into three groups performing eight repetitions of FEST of either four sets (4 × 8 group; N = 9), 6 sets (6 × 8 group; N = 8) or eight sets (8 × 8 group, N = 8). Before and after the intervention, countermovement jumping height (CMJh) and power (CMJp), half squat maximal strength (1-RM), quadriceps cross-sectional area (QCSA) and vastus lateralis (VL) architecture and fiber type composition were evaluated. Significant increases (p < 0.05) were found for all groups, with no differences among them in 1-RM (4 × 8: 14.8 ± 8.2%, 6 × 8: 13.1 ± 9.2% and 8 × 8: 21.6 ± 7.0%), CMJh (4 × 8: 12.5 ± 8.5%, 6 × 8: 11.3 ± 9.3% and 8 × 8: 7.0 ± 6.2%), CMJp (4 × 8: 9.1 ± 6.0%, 6 × 8: 7.1 ± 5.2% and 8 × 8: 5.0 ± 3.9%) and QCSA (4 × 8: 7.7 ± 4.7%, 6 × 8: 9.0 ± 6.8% and 8 × 8: 8.2 ± 6.5%). Muscle fiber type distribution remained unaltered after training in all groups. VL fascicle length increased and fascicle angle decreased only in 6 × 8 and 8 × 8 groups. In conclusion, four sets of eight fast-eccentric squats/week increase lower body power and strength performance and maintain type IIX muscle fibers after 5 weeks, at least in moderately trained females.

The development of chronic, low-grade systemic inflammation in the elderly (inflammaging) has been associated with increased incidence of chronic diseases, geriatric syndromes, and functional impairments. The aim of this study was to examine differences in habitual physical activity (PA), dietary intake patterns, and musculoskeletal performance among community-dwelling elderly men with low and elevated systemic inflammation. Nonsarcopenic older men free of chronic diseases were grouped as ‘low’ (LSI: n = 17; 68.2 ± 2.6 years; hs-CRP: 1 mg/L) systemic inflammation according to their serum levels of high-sensitivity CRP (hs-CRP). All participants were assessed for body composition via Dual Emission X-ray Absorptiometry (DEXA), physical performance using the Short Physical Performance Battery (SPPB) and handgrip strength, daily PA using accelerometry, and daily macro- and micronutrient intake. ESI was characterized by a 2-fold greater hs-CRP value than LSI (p < 0.01). The two groups were comparable in terms of body composition, but LSI displayed higher physical performance (p < 0.05), daily PA (step count/day and time at moderate-to-vigorous PA (MVPA) were greater by 30% and 42%, respectively, p < 0.05), and daily intake of the antioxidant vitamins A (6590.7 vs. 4701.8 IU/day, p < 0.05), C (120.0 vs. 77.3 mg/day, p < 0.05), and E (10.0 vs. 7.5 mg/day, p < 0.05) compared to ESI. Moreover, daily intake of vitamin A was inversely correlated with levels of hs-CRP (r = −0.39, p = 0.035). These results provide evidence that elderly men characterized by low levels of systemic inflammation are more physically active, spend more time in MVPA, and receive higher amounts of antioxidant vitamins compared to those with increased systemic inflammation.

Aims: Despite published guidelines emphasizing the importance of education in the management of heart failure (HF), the most effective method of education remains unknown. The aim of this study was to test the efficacy of constructivist teaching method (CTM) on the patients with HF. Methods and results: This is a single-centre, randomized controlled trial. Patients in the intervention group were educated using the CTM in five phases: orientation, elicitation, restructuring, application, and review. The duration of intervention was 6 months. For the study outcome measures, five questionnaires were used: Atlanta Heart Failure Knowledge Test (AHFK), Minnesota Living with Heart Failure (HMLHFQ), Self-Efficacy for Appropriate Medication Use Scale (SEAMS), European Heart Failure Self-care Behaviour Scale (EHFScBS-9), and Duke Activity Status Index (DASI). A total of 122 adults (83.6% male, mean age ± standard deviation 67.1 ± 12.3 years) were enrolled in the study; 61 in the intervention group and 61 in the control group. At 6 months, the knowledge, the quality of life, the self-efficacy for appropriate medication use, the self-care behaviour, and the activity were improved in both groups but the degree of change was greater in the intervention group as indicated from the results of repeated measurements analysis of variance (P < 0.001). Significantly lower proportion of readmission at hospital at 1 month (8.2% vs. 23%, P = 0.025), and 6 months (13.1% vs. 36.1%, P = 0.003) were found for the intervention group. Conclusions: Training of HF patients through the CTM helps effectively manage the disease while significantly reducing hospital readmissions due to decompensation. [ABSTRACT FROM AUTHOR]

Abstract Aim  Levosimendan improves central hemodynamics and symptoms in acutely decompensated chronic heart failure (CHF) patients. However, its effects on quality of life, emotional stress and functional capacity of patients with advanced CHF have not been properly investigated. Methods and results  Sixty-three advanced CHF patients (NYHA III-IV, LVEFp p p p p p p p p r = 0.643, p r = 0.30, p r = 0.25, p = 0.05). Conclusion  Levosimendan seems to have a beneficial effect on quality of life, physical activity and emotional stress in advanced CHF patients, reducing concurrently hospitalization length. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to evaluate the polymerization efficiency of a preheated resin composite used as a luting agent for indirect restorations light-cured by a blue diode laser (445 nm)., Methods: Bronze molds were used to prepare cylindrical specimens of a laboratory composite (Ceramage) with dimensions 2, 3, and 4 mm in height and 8 mm in diameter. The molds had additional height of 120 μm for the placement of the preheated resin composite. A nanohybrid resin composite (Enamel Plus HRi) was preheated at 55°C to use as a luting agent. Photopolymerization was followed for 20 seconds using three light sources: a diode laser emitting at 445 nm (SiroLaser Blue) and two light-emitting diode (LED) units (Bluephase Style and Valo). Degree of conversion (DC) of the preheated resin composite was evaluated using Fourier transform infrared spectroscopy., Results: The results indicated that the main effects of the analysis were significant for both material thickness (p<0.001) and polymerization method (p<0.001). The preheated resin composite was not polymerized under 4-mm-thick specimens, independent of the light-curing unit. For 2-mm material thickness, there was no difference among the three light-curing units (p=0.383), while 3-mm Bluephase Style presented very low DC., Conclusions: Diode laser (445 nm) achieved better polymerization efficiency at the same fluence compared to the LED unit at 3-mm depth, implying a better mechanical behavior and potential improved adhesion of the luting material to dentin., (©Operative Dentistry, 2023.)