Abstract Background and aim Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders ...in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Materials and methods Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test, Ek-60F) and mental state attribution (Story-based Empathy Task, SET). In particular, the latter is a newly developed task that assesses the ability to infer others' intentions (i.e., intention attribution — IA) and emotions (i.e., emotion attribution — EA) compared with a control condition of physical causality (i.e., causal inferences — CI). Results Compared with HCs, patients with TLE showed significantly lower performances on both social cognition tasks. In particular, all SET subconditions as well as the recognition of negative emotions were significantly impaired in patients with TLE vs. HCs. On the contrary, patients with IGE showed impairments on anger recognition only without any deficit at the SET task. Discussion Emotion recognition deficits occur in patients with epilepsy, possibly because of a global disruption of a pathway involving frontal, temporal, and limbic regions. Impairments of mental state attribution specifically characterize the neuropsychological profile of patients with TLE in the context of the in-depth temporal dysfunction typical of such patients. Conclusion Impairments of socioemotional processing have to be considered as part of the neuropsychological assessment in both TLE and IGE in view of a correct management and for future therapeutic interventions.
We investigated the role of the cyclotron emission (CE) associated to cosmic
magnetic fields (MF) on the evolution of cosmic microwave background (CMB)
spectral distortions. We computed the photon ...and energy injection rates by
including spontaneous and stimulated emission and absorption. These CE rates
have been compared with those of bremsstrahlung (BR) and double Compton
scattering (DC), for realistic CMB distorted spectra at various cosmic epochs.
For reasonable MF strengths we found that the CE contribution to the evolution
of the CMB spectrum is much smaller than the BR and DC contributions. The
constraints on the energy exchanges at various redshifts can be then derived,
under quite general assumptions, by considering only Compton scattering (CS),
BR, and DC, other than the considered dissipation process. Upper limits to the
CMB polarization degree induced by CE have been estimated.
New Astron. 11 (2005) 1-16 We have investigated the role of the cyclotron emission associated to cosmic
magnetic fields on the evolution of CMB spectral distortions by considering the
contributions ...by spontaneous and stimulated emission and by absorption in the
computation of the photon and energy injection rates. These cyclotron emission
rates have been numerically compared with those of the relevant radiative
processes operating in the cosmic plasma, bremsstrahlung and double Compton
scattering, for realistic CMB distorted spectra at early and late epochs. For
reasonable magnetic field strengths we find that the cyclotron emission
contribution is much smaller than the bremsstrahlung and double Compton
contributions, because of their different frequency locations and the high
bremsstrahlung and double Compton efficiency to keep the long wavelength region
of the CMB spectrum close to a blackbody (at electron temperature) during the
formation of the spectral distortion. Differently from previous analyses, we
find that for a very large set of dissipation mechanisms the role of cyclotron
emission in the evolution of CMB spectral distortions is negligible and, in
particular, it cannot re-establish a blackbody spectrum after the generation of
a realistic early distortion. The constraints on the energy exchanges at
various cosmic times can be then derived, under quite general assumptions, by
considering only Compton scattering, bremsstrahlung, and double Compton, other
than, obviously, the considered dissipation process. Finally, upper limits to
the CMB polarization degree induced by cyclotron emission have been estimated.
We investigated the role of the cyclotron emission (CE) associated to cosmic magnetic fields (MF) on the evolution of cosmic microwave background (CMB) spectral distortions. We computed the photon ...and energy injection rates by including spontaneous and stimulated emission and absorption. These CE rates have been compared with those of bremsstrahlung (BR) and double Compton scattering (DC), for realistic CMB distorted spectra at various cosmic epochs. For reasonable MF strengths we found that the CE contribution to the evolution of the CMB spectrum is much smaller than the BR and DC contributions. The constraints on the energy exchanges at various redshifts can be then derived, under quite general assumptions, by considering only Compton scattering (CS), BR, and DC, other than the considered dissipation process. Upper limits to the CMB polarization degree induced by CE have been estimated.
We have investigated the role of the cyclotron emission associated to cosmic magnetic fields on the evolution of CMB spectral distortions by considering the contributions by spontaneous and ...stimulated emission and by absorption in the computation of the photon and energy injection rates. These cyclotron emission rates have been numerically compared with those of the relevant radiative processes operating in the cosmic plasma, bremsstrahlung and double Compton scattering, for realistic CMB distorted spectra at early and late epochs. For reasonable magnetic field strengths we find that the cyclotron emission contribution is much smaller than the bremsstrahlung and double Compton contributions, because of their different frequency locations and the high bremsstrahlung and double Compton efficiency to keep the long wavelength region of the CMB spectrum close to a blackbody (at electron temperature) during the formation of the spectral distortion. Differently from previous analyses, we find that for a very large set of dissipation mechanisms the role of cyclotron emission in the evolution of CMB spectral distortions is negligible and, in particular, it cannot re-establish a blackbody spectrum after the generation of a realistic early distortion. The constraints on the energy exchanges at various cosmic times can be then derived, under quite general assumptions, by considering only Compton scattering, bremsstrahlung, and double Compton, other than, obviously, the considered dissipation process. Finally, upper limits to the CMB polarization degree induced by cyclotron emission have been estimated.
Background
Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early ...intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Methods
Activities of acid β-glucocerebrosidase (ABG; Gaucher), acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), and acid α-L-iduronidase (IDUA; MPS-I) in dried blood spots (DBS) from all newborns during a 17-month period were determined by multiplexed tandem mass spectrometry (MS/MS) using the NeoLSD
®
assay system. Enzymatic activity cutoff values were determined from 3500 anonymous newborn DBS. In the screening study, samples were retested if the value was below cutoff and a second spot was requested, with referral for confirmatory testing and medical evaluation if a low value was obtained.
Results
From September 2015 to January 2017, 44,411 newborns were screened for the four LSDs. We recalled 40 neonates (0.09%) for collection of a second DBS. Low activity was confirmed in 20, who had confirmatory testing. Ten of 20 had pathogenic mutations: two Pompe, two Gaucher, five Fabry, and one MPS-I. The incidences of Pompe and Gaucher diseases were similar (1/22,205), with Fabry disease the most frequent (1/8882) and MPS-I the rarest (1/44411). The combined incidence of the four disorders was 1/4411 births.
Conclusions
Simultaneously determining multiple enzyme activities by MS/MS, with a focus on specific biochemical markers, successfully detected newborns with LSDs. The high incidence of these disorders supports this screening program.
The fifth edition of the World Health Organization (WHO) classification for urogenital tumors, released in 2022, introduces some novelties in the chapter on renal epithelial tumors compared to the ...previous 2016 classification. Significant changes include the recognition of new disease entities and adjustments in the nomenclature for certain pathologies. Notably, each tumor entity now includes minimum essential and desirable criteria for reliable diagnosis. This classification highlights the importance of biological and molecular characterization alongside traditional cytological and architectural features. In this view, immunophenotyping through immunohistochemistry (IHC) plays a crucial role in bridging morphology and genetics. This article aims to present and discuss the role of key immunohistochemical markers that support the diagnosis of new entities recognized in the WHO classification, focusing on critical topics associated with single markers, in the context of specific tumors, such as the clear cell capillary renal cell tumor (CCPRCT), eosinophilic solid and cystic renal cell carcinoma (ESC-RCC), and so-called "other oncocytic tumors", namely the eosinophilic vacuolated tumor (EVT) and low-grade oncocytic tumor (LOT). Their distinctive characteristics and immunophenotypic profiles, along with insights regarding diagnostic challenges and the differential diagnosis of these tumors, are provided. This state-of-the-art review offers valuable insights in biomarkers associated with novel renal tumors, as well as a tool to implement diagnostic strategies in routine practice.
