150 research outputs found
Why Sliding Friction of Ne and Kr Monolayers Is So Different on the Pb(111) Surface
To understand the tribological properties of Ne and Kr on Pb(111), the potential energy surfaces for sliding motion of Ne, Kr, and Xe monolayers on the Pb(111) surface are examined through density functional calculations, using either local density or self-consistent nonlocal van der Waals functionals. The calculated adsorption energy for Xe/Pb(111) agrees well with experiment, validating the present approach and parameters. Activation energies along a sliding path indicate that Ne motion is much faster than Kr and Xe on Pb(111) at T similar to 6 K, which explains the puzzling experimental observation
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach
Basal cell carcinoma: A comprehensive review
Basal cell carcinoma (BCC) is the most common type of carcinoma worldwide. BCC development is the result of a complex interaction between environmental, phenotypic and genetic factors. However, despite the progress in the field, BCC biology and mechanisms of resistance against systemic treatments have been poorly investigated. The aim of the present review is to provide a revision of BCC histological and molecular features, including microRNA (miRNA) dysregulation, with a specific focus on the molecular basis of BCC systemic therapies. Papers from the last ten years regarding BCC genetic and phenotypic alterations, as well as the mechanism of resistance against hedgehog pathway inhibitors vismodegib and sonidegib were included. The involvement of miRNAs in BCC resistance to systemic therapies is emerging as a new field of knowledge
Classification performance for covid patient prognosis from automatic ai segmentation—a single-center study
Background: COVID assessment can be performed using the recently developed individual risk score (prediction of severe respiratory failure in hospitalized patients with SARS-COV2 infection, PREDI-CO score) based on High Resolution Computed Tomography. In this study, we evaluated the possibility of automatizing this estimation using semi-supervised AI-based Radiomics, leveraging the possibility of performing non-supervised segmentation of ground-glass areas. Methods: We collected 92 from patients treated in the IRCCS Sant’Orsola-Malpighi Policlinic and public databases; each lung was segmented using a pre-trained AI method; ground-glass opacity was identified using a novel, non-supervised approach; radiomic measurements were collected and used to predict clinically relevant scores, with particular focus on mortality and the PREDI-CO score. We compared the prediction obtained through different machine learning approaches. Results: All the methods obtained a well-balanced accuracy (70%) on the PREDI-CO score but did not obtain satisfying results on other clinical characteristics due to unbalance between the classes. Conclusions: Semi-supervised segmentation, implemented using a combination of non-supervised segmentation and feature extraction, seems to be a viable approach for patient stratification and could be leveraged to train more complex models. This would be useful in a high-demand situation similar to the current pandemic to support gold-standard segmentation for AI training
3D Patient-Specific Virtual Models for Presurgical Planning in Patients with Recto-Sigmoid Endometriosis Nodules: A Pilot Study
Background and Objective: In recent years, 3D printing has been used to support surgical planning or to guide intraoperative procedures in various surgical specialties. An improvement in surgical planning for recto-sigmoid endometriosis (RSE) excision might reduce the high complication rate related to this challenging surgery. The aim of this study was to build novel presurgical 3D models of RSE nodules from magnetic resonance imaging (MRI) and compare them with intraoperative findings. Materials and Methods: A single-center, observational, prospective, cohort, pilot study was performed by enrolling consecutive symptomatic women scheduled for minimally invasive surgery for RSE between November 2019 and June 2020 at our institution. Preoperative MRI were used for building 3D models of RSE nodules and surrounding pelvic organs. 3D models were examined during multi-disciplinary preoperative planning, focusing especially on three domains: degree of bowel stenosis, nodule's circumferential extension, and bowel angulation induced by the RSE nodule. After surgery, the surgeon was asked to subjectively evaluate the correlation of the 3D model with the intra-operative findings and to express his evaluation as "no correlation", "low correlation", or "high correlation" referring to the three described domains. Results: seven women were enrolled and 3D anatomical virtual models of RSE nodules and surrounding pelvic organs were generated. In all cases, surgeons reported a subjective "high correlation" with the surgical findings. Conclusion: Presurgical 3D models could be a feasible and useful tool to support surgical planning in women with recto-sigmoidal endometriotic involvement, appearing closely related to intraoperative findings
Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients
Muscle-resident non-myogenic mesenchymal cells play key roles that drive successful tissue regeneration within the skeletal muscle stem cell niche. These cells have recently emerged as remarkable therapeutic targets for neuromuscular disorders, although to date they have been poorly investigated in facioscapulohumeral muscular dystrophy (FSHD). In this study, we characterised the non-myogenic mesenchymal stromal cell population in FSHD patients’ muscles with signs of disease activity, identified by muscle magnetic resonance imaging (MRI), and compared them with those obtained from apparently normal muscles of FSHD patients and from muscles of healthy, age-matched controls. Our results showed that patient-derived cells displayed a distinctive expression pattern of mesenchymal markers, along with an impaired capacity to differentiate towards mature adipocytes in vitro, compared with control cells. We also demonstrated a significant expansion of non-myogenic mesenchymal cells (identified as CD201- or PDGFRA-expressing cells) in FSHD muscles with signs of disease activity, which correlated with the extent of intramuscular fibrosis. In addition, the accumulation of non-myogenic mesenchymal cells was higher in FSHD muscles that deteriorate more rapidly. Our results prompt a direct association between an accumulation, as well as an altered differentiation, of non-myogenic mesenchymal cells with muscle degeneration in FSHD patients. Elucidating the mechanisms and cellular interactions that are altered in the affected muscles of FSHD patients could be instrumental to clarify disease pathogenesis and identifying reliable novel therapeutic targets
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
ABSTRACT
Objective To retrospectively investigate safety and
efficacy of nusinersen in a large cohort of adult Italian
patients with spinal muscular atrophy (SMA).
Methods Inclusion criteria were: (1) clinical and
molecular diagnosis of SMA2 or SMA3; (2) nusinersen
treatment started in adult age (>18 years); (3) clinical
data available at least at baseline (T0-beginning of
treatment) and 6 months (T6).
Results We included 116 patients (13 SMA2 and
103 SMA3) with median age at first administration of
34 years (range 18–72). The Hammersmith Functional
Rating Scale Expanded (HFMSE) in patients with SMA3
increased significantly from baseline to T6 (median
change +1 point, p<0.0001), T10 (+2, p<0.0001)
and T14 (+3, p<0.0001). HFMSE changes were
independently significant in SMA3 sitter and walker
subgroups. The Revised Upper Limb Module (RULM)
in SMA3 significantly improved between T0 and T14
(median +0.5, p=0.012), with most of the benefit
observed in sitters (+2, p=0.018). Conversely, patients
with SMA2 had no significant changes of median
HFMSE and RULM between T0 and the following time
points, although a trend for improvement of RULM was
observed in those with some residual baseline function.
The rate of patients showing clinically meaningful
improvements (as defined during clinical trials) increased
from 53% to 69% from T6 to T14.
Conclusions Our data provide further evidence of
nusinersen safety and efficacy in adult SMA2 and SMA3,
with the latter appearing to be cumulative over time.
In patients with extremely advanced disease, effects on
residual motor function are less clear
Scanning tunneling microscopy observations on the reconstructed Au(111) surface: Atomic structure, long-range superstructure, rotational domains, and surface defects
Synthesis of spherical lead zirconate titanate (PZT) nanoparticles by electrohydrodynamic atomisation
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