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AimsTo assess the level of transesophageal echocardiography (TOE) knowledge and skills of young cardiologists.Methods and resultsA European Association of Cardiovascular Imaging (EACVI) online study using the first fully virtual simulation-based software was conducted in two periods (9–12 December 2021 and 10–13 April 2022). All young cardiologists eligible to participate (ConclusionOnline evaluation of young cardiologists around the world showed a relatively low level of TOE skills and knowledge. Prior participation to a TOE simulation-based training session, a higher number of TOE exams performed per week, and the EACVI certification for TOE were independently associated with a higher global score.

Background Visual Snow Syndrome is a recently recognized neurological condition presenting, continuous, tiny dots across the entire visual field, accompanied by nyctalopia, photophobia and palinopsia that persist for months. It may be part of migraine aura spectrum, yet its definition is still questionable. Diagnostic criteria for Visual Snow Syndrome are included in the supplemental material of ICHD-3. We aimed to summarize recent data to improve the understanding of Visual Snow Syndrome. Methods After presenting four new cases, we conducted a PRISMA systematic search in PubMed/MEDLINE and Embase databases using the keyword “visual snow” with specific inclusion and exclusion criteria. Results From the 855 articles identified 30 were included for the qualitative analysis. These reports covered five aspects related to Visual Snow Syndrome: epidemiology, clinical features, comorbidities, pathophysiology, and treatment. We found limited data concerning Visual Snow Syndrome’s epidemiology (one study). Clinical presentation (22 articles) and the comorbidities (migraine with aura and tinnitus most often, five reports) are described in detail. The pathophysiology of Visual Snow Syndrome is only approached with hypotheses, but several neuroimaging studies have been identified (seven articles). Treatment is based on single case reports only. Conclusion Data for Visual Snow Syndrome are few and not strong enough to support Visual Snow Syndrome as a medical identity. Further investigation is needed.

Desmin is a class III intermediate filament 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

Spiliopoulou, P, Zaras, N, Methenitis, S, Papadimas, G, Papadopoulos, C, Bogdanis, GC, and Terzis, G. Effect of concurrent power training and high-intensity interval cycling on muscle morphology and performance. J Strength Cond Res 35(9): 2464-2471, 2021-The aim of the study was to examine the effect of performing high-intensity interval cycling on muscle morphology and performance immediately after power training (PT). Twenty healthy female physical education students were assigned into 2 training groups. One group performed PT, and the other group performed the same PT followed by high-intensity interval aerobic training on a cycle ergometer (PTC). Training was performed 3 days per week for 6 weeks. Countermovement jump (CMJ) height and CMJ power, half-squat maximal strength (1 repetition maximum), maximum aerobic power, vastus lateralis muscle fiber composition, and cross-sectional area (CSA) were evaluated before and after the intervention. Countermovement jump height increased after PT (10.1 ± 6.6%, p = 0.002) but not after PTC (-5.1 ± 10.5%, p = 0.099), with significant difference between groups (p = 0.001). Countermovement jump power increased after PT (4.5 ± 4.9%, p = 0.021) but not after PTC (-2.4 ± 6.4, p = 0.278), with significant difference between groups (p = 0.017). One repetition maximum increased similarly in both groups. Muscle fiber composition was not altered after either PT or PTC. Vastus lateralis muscle fiber CSA increased significantly and similarly after both PT (I: 16.9 ± 16.2%, p = 0.035, ΙΙΑ: 12.7 ± 10.9%, p = 0.008,ΙΙΧ: 15.5 ± 17.1%, p = 0.021) and PTC (Ι: 18.0 ± 23.7%, p = 0.033,ΙΙΑ: 18.2 ± 11.4%, p = 0.001,ΙΙΧ: 25.5 ± 19.6%, p = 0.003). These results suggest that the addition of high-intensity interval cycling to PT inhibits the anticipated increase in jumping performance induced by PT per se. This inhibition is not explained by changes in muscle fiber type composition or vastus lateralis muscle fiber CSA adaptations.

Currently, dental caries is prevalent all around the world and composite resins are widely used as restorative materials for its treatment. Adhesion of composite resins to tooth tissues is achieved...

The short-term mortality and rehospitalization rates after admission for acute heart failure (AHF) remain high, despite the high level of adherence to contemporary practice guidelines. Observational data from non-randomized studies in AHF strongly support the in-hospital administration of oral evidence-based modifying chronic heart failure (HF) medications (i.e., b-blockers, ACE inhibitors, mineralocorticoid receptor antagonists) to reduce morbidity and mortality. Interestingly, a well-designed prospective randomized multicenter study (PIONEER-HF) showed an improved clinical outcome and stress/injury biomarker profile after in-hospital administration of sacubitril/valsartan (sac/val) as compared to enalapril, in hemodynamically stable patients with AHF. However, sac/val implementation during hospitalization remains suboptimal due to the lack of an integrated individualized plan or well-defined appropriateness criteria for transition to oral therapies, an absence of specific guidelines regarding dose selection and the up-titration process, and uncertainty regarding patient eligibility. In the present expert consensus position paper, clinical practical recommendations are proposed, together with an action plan algorithm, to encourage and facilitate sac/val administration during hospitalization after an AHF episode with the aim of improving efficiencies of care and resource utilization.

Myotonic dystrophies (DMs) are hereditary, multisystem, slowly progressive myopathies. One of the systems they affect is the CNS. In contrast to the well-established cognitive profile of myotonic dystrophy type 1 (DM1), only a few studies have investigated cognitive dysfunction in individuals with myotonic dystrophy type 2 (DM2), and their findings have been inconsistent. To identify the most commonly affected cognitive domains in individuals with DM2, we performed a formal comprehensive review of published DM2 studies. Using the terms "myotonic dystrophy type 2" AND "cognitive deficits," "cognitive," "cognition," "neuropsychological," "neurocognitive," and "neurobehavioral" in all fields, we conducted an advanced search on PubMed. We read and evaluated all of the available original research articles (13) and one case study, 14 in total, and included them in our review. Most of the research studies of DM2 reported primary cognitive deficits in executive functions (dysexecutive syndrome), memory (short-term nonverbal, verbal episodic memory), visuospatial/constructive-motor functions, and attention and processing speed; language was rarely reported to be affected. Based on the few neuroimaging and/or multimodal DM2 studies we could find, the cognitive profile of DM2 is associated with brain abnormalities in several secondary and high-order cortical and subcortical regions and associative white matter tracts. The limited sample size of individuals with DM2 was the most prominent limitation of these studies. The multifaceted profile of cognitive deficits found in individuals with DM2 highlights the need for routine neuropsychological assessment at both baseline and follow-up, which could unveil these individuals' cognitive strengths and deficits.

Introduction Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype. Methods We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Their performance was compared with that of age-matched healthy controls. Horizontal rightward and leftward saccades were recorded by means of video-oculography, whereas subjects looked at light-emitting diode targets placed at ±5°, ±10°, and ±15° eccentricities. Results No differences in saccade amplitude gains, peak velocities, peak velocity-to-amplitude ratios, or durations were observed between controls and patients. More specifically, for 5° target eccentricities, patients had a mean saccadic peak velocity of 153°/s, whereas for 10° and 15° these values were 268°/s and 298°/s, respectively. The corresponding mean peak velocities of the control group were 151°/s, 264°/s, and 291°/s. Discussion Our results indicate that patients with SMA perform fast and accurate horizontal saccades without evidence of extraocular muscle weakness. These quantitative oculomotor data corroborate clinical experience that neuro-ophthalmic symptoms in SMA are not common and, if present, should prompt suspicion for an alternative neuromuscular disorder.

Background Myotonic dystrophy type 2 (DM2) is a neuromuscular disorder characterized by myotonia and muscle weakness, with no medical treatment to prevent a decline in decline. It is unknown whether exercise training is effective in DM2. The aim of this study was to investigate the effect of exercise training on functional capacity and body composition in these patients. Methods Body composition and functional capacity were evaluated at the beginning (T1) and end (T2) of a 12 wk control period, and again after 16 wk of exercise training (T3) in 10 patients. Results No changes were recorded after the control period. Handgrip strength, 5× sit to stand, timed up and go, 6 min walk distance, lean body mass (LBM), and bone mineral density (BMD) increased while arterial pressure decreased after training. Conclusions These results suggest that supervised exercise training improves functional capacity, LBM, and BMD in ambulatory DM2 patients.

Pompe disease is a rare autosomal recessive disorder caused by the deficiency of acid α-glycosidase resulting in accumulation of glycogen in the lysosomes. The late-onset form of the disease (LOPD) causes primarily progressive muscle weakness and respiratory insufficiency. Enzyme replacement therapy (ERT) introduced in 2006, showed mild improvement or stabilization of the symptoms although long-term data are limited. Aim of the study was to describe the progression of body composition and walking ability in LOPD patients receiving ERT consistently for 9 years.Lean body mass, bone mineral density, body fat and 6 min walking distance were assessed in three male and three female LOPD patients (height 165.8 ± 11.2 cm, age 42.3 ± 11.8yrs, body mass 71.1 ± 20.8 kg, at study entry), every three years, for 9 years since ERT initiation (T0, T3, T6, T9).Total body and upper extremities' lean mass remained unchanged (The current data show that enzyme replacement therapy may preserve lean body mass, bone mineral density and walking capacity in LOPD patients.

Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients’ quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. Results: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5–15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6). Conclusions: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.

The present study aimed to investigate the effect of different volumes of fast eccentric-based training on body composition and lipidemic-glycemic profiles in females, as well as to explore the relationship between the change in glycemic-lipidemic profiles and the change in muscle fibre composition. Twenty-nine young females were assigned into three groups and performed 10 weeks (2 training sessions per week) of either 3 (LV), 6 (MV) or 9 (HV) sets/session of four fast velocity eccentric-only half-squats against 70% of concentric 1RM, followed by 3 maximum countermovement jumps (CMJ) after each set. Body composition, vastus lateralis fibre-type composition, and resting blood lipidemic and glycemic indices were evaluated 1 week before and after the training intervention. Significant changes in body composition, fasting glucose, HOMA-IR and blood lipids were found after training with MV and HV (

In contrast to myotonic dystrophy type 1, the cognitive and radiologic profile of myotonic dystrophy type 2 (DM2) is relatively poorly characterized.To conduct a pilot study to systematically evaluate cognitive and radiologic features in a cohort of Greek individuals with DM2.Eleven genetically confirmed individuals with DM2 and 26 age- and education-matched healthy controls were administered the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS) to screen for impairment in multiple cognitive domains. MRI data were evaluated by morphometric analyses to identify disease-specific gray and white matter alterations. The following statistical thresholds were used for cognitive comparisons: PFDR0.05 and Bayes factor (BF 10 )10.The DM2 group exhibited cognitive impairment (ECAS Total score; PFDR = 0.001; BF 10 = 108.887), which was dominated by executive impairment ( PFDR = 0.003; BF 10 = 25.330). A trend toward verbal fluency impairment was also identified. No significant impairments in memory, language, or visuospatial function were captured. The analysis of subscores revealed severe impairments in social cognition and alternation. Voxel-based morphometry identified widespread frontal, occipital, and subcortical gray matter atrophy, including the left superior medial frontal gyrus, right medial orbitofrontal gyrus, right operculum, right precuneus, bilateral fusiform gyri, and bilateral thalami.DM2 may be associated with multifocal cortical and thalamic atrophy, which is likely to underpin the range of cognitive manifestations mostly characterized by executive impairment and specifically by impaired social cognition.

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., Graphical abstract, Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. In this study, two novel miRNAs were identified to be elevated in DM1 patients compared to healthy individuals and suggested as potential biomarkers. Additionally, six miRNAs were investigated in tissues and serum of a DM1 mouse model.

Espousing experiential learning theories, internships have captured the attention of tertiary education programs in almost all business-related fields. Due to their vocational nature, hospitality and tourism programs have been amongst the first to incorporate such experiences in their curriculum, whereas relevant research has surged over the past two decades. This study aims to systematically review internship-specific literature, critique and synthesize the existing conceptual capital, identify important gaps, and highlight an agenda for future research. Sixty-nine articles are reviewed and analyzed with the use of a standardized coding scheme and content analysis. Findings, of interest to industry stakeholders, aim to enhance our understanding of the relevant literature and identify vital areas for future research that would further extend internship-related theories and practices. Finally, the impact of the unprecedented COVID-19 pandemic on internship practices is discussed, with suggestions aiming to highlight areas of both interest and concern.

To evaluate the effect of different surface modification methods on the microtensile bond strength (μTBS) of four resin-matrix CAD/CAM ceramics after artificial aging.Specimens of four CAD/CAM materials (Shofu Block HC, Lava Ultimate, Brilliant Crios, and Vita Enamic) were prepared and divided into four groups. Each group received one of the following treatments: group 1 (INT): no surface modification; group 2: sandblasting with 29-μm Al2O3 particles (SB); group 3: hydrofluoric acid etching (9%) + silane (HF+Si); group 4: sandblasting with 30-μm particles of the CoJet system (CJ). The specimens of each group were luted together in pairs using resin cement (RelyX Ultimate). After one week of water storage (37°C), the sandwich specimens were sectioned into rectangular microspecimens and half of them were immediately subjected to μTBS testing, while the other half was tested after six months. Data were statistically analyzed using FFANOVA including the factors of material, treatment, and storage time, with α = 0.05.After one week, the lowest μTBS was observed for INT, while the highest was found for either mechanical (SB and CJ) or chemical (HF+Si) treatments (p0.05). After six months, a significant decrease in μTBS was observed depending on treatment (p0.05), while artificial aging significantly influenced the μTBS of all experimental groups (p0.05). During the two storage periods, the failure type was mainly interfacial and was associated with the type of surface modification.After artificial aging, the μTBS appeared to depend on srface modification, while the parameter "material" did not influence the results. Consequently, adhesive strategies should be oriented towards surface modification techniques.

Assessing long-term mortality and identifying predictors of death in adults with mitochondrial diseases. We retrospectively included adult patients with genetically proven mitochondrial diseases referred to our centre between January 2000 and June 2016, and collected information relative to their genetic testing, clinical assessments, and vital status. We performed single and multiple variable analyses in search of predictors of total mortality, and calculated hazard ratios (HR) and 95% confidence intervals (CI). We included 267 patients (women 59%; median age 43.3 [31.3-54.2] years), including 111 with mitochondrial DNA (mtDNA) single large-scale deletions, 65 with m.3243A>G, 24 with m.8344A>G, 32 with other mtDNA point mutations, and 36 patients with nuclear genes mutations. Over a median follow-up of 8.9 years (0.3 to 18.7), 61 patients (22.8%) died, at a median age of 50.7 (37.9-51.9) years. Primary cause of death was cardiovascular disease in 16 patients (26.2%), respiratory in 11 (18.0%), and gastrointestinal in 5 (8.1%). By multiple variable analysis, diabetes (HR 2.75; 95% CI 1.46-5.18), intraventricular cardiac conduction defects (HR 3.38; 95% CI 1.71-6.76) and focal brain involvement (HR 2.39; 95% CI 1.25-4.57) were independent predictors of death. Adult patients with mitochondrial diseases present high morbidity that can be independently predicted by the presence of diabetes, intraventricular cardiac conduction defects, and focal brain involvement.

Late onset Pompe disease (LOPD) is a slowly progressive metabolic myopathy with variable clinical severity. The advent of enzyme replacement therapy (ERT) has modified the natural course of the disease, though the treatment effect on adult patients is modest compared to infants with the classic form. This study aims to describe the long-term clinical outcome of the Greek LOPD cohort, as assessed by 6 min walk test, muscle strength using MRC grading scale and spirometry. ERT efficacy was estimated using statistical methodology that is novel in the context of Pompe disease, which at the same time is well-suited to longitudinal studies with small samples and missing data (local non-linear regression analysis). Improvement over baseline was significant at 1 year for motor performance and muscle strength (p0.05), and at 2 years for FVC-U and FVC-S (p0.05). A subgroup analysis showed that the onset of the disease before adulthood (18 years), a male gender, and a latency of more than 2 years between the onset of symptoms and ERT administration are unfavorable prognostic factors. Conclusively, this study presents longitudinal data from the Greek LOPD cohort supporting previous observations, that therapeutic delay is related to worse prognosis and treatment effects may decline after several years of ERT.

This study aimed to investigate the effect of 3 different eccentric-only power training volumes on muscle fiber type composition and power performance. Twenty-nine females were assigned into 3 groups and performed 10 weeks of either 3 (low volume), 6 (moderate volume), or 9 (high volume) sets/session of 4 fast-velocity eccentric-only half-squats against 70% of concentric 1-repetition maximum (1RM), followed by 3 maximum countermovement jumps (CMJs) after each set. Half-squat 1RM, CMJ height/power, maximum isometric force, rate of force development (RFD) and muscle fiber cross-sectional area (CSA) were increased in all groups (p = 0.001). Low-volume training induced higher increases in CMJ height/power and early RFD, compared with the moderate- and high-volume training programs (p < 0.001). Significant reductions in type IIx muscle fiber percentages and %CSAs were found after moderate- and high-volume training, with concomitant increases in type IIa fibers (p = 0.001). Significant correlations were found between the changes in type IIa and type IIx percentages, fiber CSA, %CSA, and the changes in performance (r: –0.787 to 0.792; p < 0.05). These results suggest that relatively large eccentric power training volumes may result in detrimental neuromuscular adaptations, minimal changes in early RFD, and a reduction of type IIx muscle fiber percentage. Novelty Low but not high volume of power training maintains type IIx muscle fibers. Early rate of force development increases after a low- or moderate-power training volume, but not after a high-power training volume. Training-induced changes in type IIx muscle fiber percentage is related with changes in early rate of force development.

Cardiac arrhythmias refer to any abnormality or disturbance in the normal activation sequence of the myocardium and may be indicative of structural heart disease and the cause of significant cardiovascular complications and sudden cardiac death. The following review summarizes the current state-of-the-art knowledge on the role of echocardiography in the management of cardiac arrhythmias and focuses on atrial fibrillation and ventricular arrhythmias where echocardiography presents a particular diagnostic and prognostic interest. Moreover, a brief reference is made to the effect of cardiac arrhythmias and conduction abnormalities on echocardiographic examination. Keywords: Atrial fibrillation, Ventricular arrhythmias, Echocardiography

We report the clinical, morphological and molecular features of two patients with autosomal recessive SLC25A4 (ANT1) gene mutations. Furthermore, all previously published cases are reviewed to identify valuable features for future diagnosis. Patients present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. Muscle biopsies show wide sub-sarcolemmal mitochondrial aggregates, and increased activities of all respiratory chain complexes. The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular analysis in adults with exercise intolerance associated with hyperlactatemia.