Getting hotter by heating less: How driven granular materials dissipate energy in excess

We investigate how the kinetic energy acquired by a dense granular system driven by an external vibration depends on the input energy. Our focus is on the dependence of the granular behavior on two main parameters: frequency and vibration amplitude. We find that there exists an optimal forcing frequency at which the system reaches the maximal kinetic energy: if the input energy is increased beyond this threshold, the system dissipates more and more energy and recovers a colder and more viscous state. Quite surprisingly, the nonmonotonic behavior is found for vibration amplitudes which are sufficiently low to keep the system always in contact with the driving oscillating plate. Studying dissipative properties of the system, we unveil a striking difference between this nonmonotonic behavior and a standard resonance mechanism. This feature is also observed at the microscopic scale of the single-grain dynamics and can be interpreted as an instance of negative specific heat. An analytically solvable model based on a generalized forced-damped oscillator well reproduces the observed phenomenology, illustrating the role of the competing effects of forcing and dissipation

Getting hotter by heating less: How driven granular materials dissipate energy in excess

We investigate how the kinetic energy acquired by a dense granular system driven by an external vibration depends on the input energy. Our focus is on the dependence of the granular behavior on two main parameters: frequency and vibration amplitude. We find that there exists an optimal forcing frequency at which the system reaches the maximal kinetic energy: if the input energy is increased beyond this threshold, the system dissipates more and more energy and recovers a colder and more viscous state. Quite surprisingly, the nonmonotonic behavior is found for vibration amplitudes which are sufficiently low to keep the system always in contact with the driving oscillating plate. Studying dissipative properties of the system, we unveil a striking difference between this nonmonotonic behavior and a standard resonance mechanism. This feature is also observed at the microscopic scale of the single-grain dynamics and can be interpreted as an instance of negative specific heat. An analytically solvable model based on a generalized forced-damped oscillator well reproduces the observed phenomenology, illustrating the role of the competing effects of forcing and dissipation

Ta/CoFeB/MgO analysis for low power nanomagnetic devices

The requirement of high memory bandwidth for next-generation computing systems moved the attention to the development of devices that can combine storage and logic capabilities. Domain wall-based spintronic devices intrinsically combine both these requirements making them suitable both for non-volatile storage and computation. CoPt and CoNi were the technology drivers of perpendicular Nano Magnetic Logic devices (pNML), but for power constraints and depinning fields, novel CoFeBMgO layers appear more promis- ing. In this paper, we investigate the Ta2CoFeB1MgO2Ta3 stack at the simulation and experimental level, to show its potential for the next generation of magnetic logic devices. The micromagnetic simulations are used to support the experiments. We focus, first, at the experimental level measuring the switching field distribution of patterned magnetic islands, Ms via VSM and the domain wall speed on magnetic nanowires. Then, at the simulation level, we focus on the magnetostatic analysis of magnetic islands quantifying the stray field that can be achieved with different layout topologies. Our results show that the achieved coupling is strong enough to realize logic computation with magnetic islands, moving a step forward in the direction of low power perpendicularly magnetized logic devices

Entropy production for velocity-dependent macroscopic forces: the problem of dissipation without fluctuations

In macroscopic systems, velocity-dependent phenomenological forces $F(v)$ are used to model friction, feedback devices or self-propulsion. Such forces usually include a dissipative component which conceals the fast energy exchanges with a thermostat at the environment temperature $T$, ruled by a microscopic Hamiltonian $H$. The mapping $(H,T) \to F(v)$ - even if effective for many purposes - may lead to applications of stochastic thermodynamics where an $incomplete$ fluctuating entropy production (FEP) is derived. An enlightening example is offered by recent macroscopic experiments where dissipation is dominated by solid-on-solid friction, typically modelled through a deterministic Coulomb force $F(v)$. Through an adaptation of the microscopic Prandtl-Tomlinson model for friction, we show how the FEP is dominated by the heat released to the $T$-thermostat, ignored by the macroscopic Coulomb model. This problem, which haunts several studies in the literature, cannot be cured by weighing the time-reversed trajectories with a different auxiliary dynamics: it is only solved by a more accurate stochastic modelling of the thermostat underlying dissipation.Comment: 6 pages, 3 figure

Ga+ Ion Irradiation-Induced Tuning of Artificial Pinning Sites to Control Domain Wall Motion

Domain-wall-based devices are considered one of the candidates for the next generation of storage memories and nanomagnetic logic devices due to their unique properties, such as nonvolatility, scalability, and low power consumption. Field or current-driven domain walls require a regular and controlled motion along the track in which they are stored in order to maintain the information integrity during operation. However, their dynamics can vary along the track due to film inhomogeneities, roughness of the edges, and thermal fluctuations. Consequently, the final position of the domain walls may be difficult to predict, making difficult the development of memory and logic applications. In this paper, we demonstrate how Ga+ ion irradiation can be used to locally modify the material properties of the Ta/ CoFeB/MgO thin film, creating regions in which the domain wall can be trapped, namely motion barriers. The aim is to push the domain wall to overcome thin-film inhomogeneities effects, while stopping its motion at artificially defined positions corresponding to the irradiated regions. Increasing the driving force strength, the domain wall can escape, allowing the shifting between consecutive irradiated regions. In this way, the correct positioning of the domain walls after the motion is ensured. The study shows that the driving force strength, namely current density or magnetic field amplitude, needed to overcome the irradiated regions depends on the ion dose. These results show a reliable approach for domain wall manipulation, enabling a precise control of the domain wall position along a track with synchronous motion

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Background: Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods: Herein, we report a case of an 8-year- old child with Stickler Syndrome, presenting with early-onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results: A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion: We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early-onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene-related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations. Our study aims to analyze the data captured by the Registry of Multiple Osteochondromas, to refine Istituto Ortopedico Rizzoli (IOR) Classification, providing a representative picture of the phenotypic manifestations throughout the lifespan. We conducted a single-institution cross-sectional study. Patients were categorized according to IOR Classification, which identifies three patients' classes on the presence/absence of deformities and/or limitations. The present dataset was compared with our previously published data, to refine the classification. Nine hundred sixty-eight patients were included: 243 children (<10 years), 136 adolescents (10–15 years), and 589 adults. Of the entire population, half patients presented at least one deformity, and one quarter reported at least one limitation. Compared with our previous study, the amount of children was more than doubled and the percentage of mild/moderate cases was notably increased, giving a better disease overview throughout the lifespan and suggesting a different cut-off for dividing Class II in subclasses. We confirmed that MO is characterized by phenotypic heterogeneity, suggesting that an early classification of the disease may offer a useful tool to follow disease pattern and evolution, to support clinical practice, and to propose timely interventions

Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I

Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no specific hotspots and few solid genotype/phenotype correlations. After retrospectively re-evaluating all NF1 gene variants found in the diagnostic activity, we studied 108 patients affected by neurofibromatosis type I who harbored mutations that had not been previously reported in the international databases, with the aim of analyzing their type and distribution along the gene and of correlating them with the phenotypic features of the affected patients. Out of the 108 previously unreported variants, 14 were inherited by one of the affected parents and 94 were de novo. Twenty-nine (26.9%) mutations were of uncertain significance, whereas 79 (73.2%) were predicted as pathogenic or probably pathogenic. No differential distribution in the exons or in the protein domains was observed and no statistically significant genotype/phenotype correlation was found, confirming previous evidences

Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

Background: Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare results with already published data in order to determine prognostic factors for overall and disease-free survival. Methods: The case study includes retrospective data from patients diagnosed at a single institution from 1943 to 2019. Clinical data were collected reviewing all available medical records from first to last follow-up visits. To exclude the presence of the Multiple Osteochondroma Hereditary Syndrome, few patients, with a suspect of a familial form of the disease, were evaluated for the presence of germline heterozygous variants in EXT1 and EXT2 genes. Results were summarized using descriptive statistics and statistical analysis were performed to reveal associations between variables. Results: Two hundred and fourteen secondary peripheral chondrosarcomas that arose exclusively from solitary osteochondromas diagnosed in a multidisciplinary setting at the IRCCS Istituto Ortopedico Rizzoli were retrospectively identified, 66.4% males and 33.6% females with a median age at diagnosis of 38 years. The local recurrence rate was 17.3%, while the metastases one was 5.1%. Besides age, a high histologic grade is the only factor associated with worse 5-year and 10-year overall survival (log-rank p = 0.0005, HR = 3.74; 95% CI 1.69–8.26). Moreover, high histological grade (HR = 3.75; 95% CI = 1.69–8.34; p = 0.001) and surgical debulking (HR = 3.71; 95% CI = 1.57–8.79; p = 0.003) were associated with a significantly worse disease-free survival. Conclusions: Our study confirm the low-grade behavior of secondary peripheral chondrosarcomas and demonstrate that the best choice of treatment for those arising in solitary osteochondromas is the wide surgical excision, when possible. Location per se is not a factor that affects prognosis, while the accurate histological grade assessment is correlated with the tumor aggressiveness and a long term follow up is necessary for this rare variant of chondrosarcoma

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke\u2013Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed. In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations