Complex phenotype in an Italian family with a novel mutation in SPG3A.

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations

Characterization of intra device mutual thermal coupling in multi finger SiGe:C HBTs

This paper studies the mutual coupling in trench isolated multi emitter bipolar transistors fabricated in a Si/SiGe:C HBT technology STMicroelectronics featuring fT and fmax of ~300GHz and ~400GHz, respectively. Thermal coupling parameters are extracted using three dimensional (3D) thermal TCAD simulations. The obtained parameters are implemented in a distributed transistor model that considers self-heating as well as thermal coupling between emitter fingers. Very good agreement is achieved between circuit simulations and DC measurements carried out on an in house designed test structure.Comment: Preprint, submitted to EDSSC 201

Standard model anomalies: Lepton flavour non-universality and lepton g-2

We critically analyze the body of results that hints to the existence of New Physics from possible violations of lepton universality observed by the LHCb experiment in the $\mu/e$ ratios $R_{K}$ and $R_{K^*}$ to the $g-2$ lepton anomalies. The analysis begins with a theoretical, in depth, study of the $\mu/e$ ratios $R_{K}$ and $R_{K^*}$ as well as the process $B_s \rightarrow \mu^+ \mu^-$. Here we consider the impact of complex Wilson coefficients and derive constraints on their imaginary and real parts. We then move to a comprehensive comparison with experimental results. We show that, by fitting a single Wilson coefficient, the deviations from the Standard Model are at the $4.7\sigma$ level when including only the hadronic insensitive observables while it increases to $6.1\sigma$ when including also the hadronic sensitive ones. When switching on all relevant Wilson coefficients and combining both hadronic sensitive and insensitive data into the fit, the deviation from the Standard Model peaks at 7.2$\sigma$ and decreases at the $4.9\sigma$ level if we assume that the central values of $R_K$ and $R_K^{\ast}$ are taken to be unity. We further estimate the non-perturbative long distance hadronic contributions and show that their inclusion still requires New Physics to fit the data. We then introduce the $g-2$ lepton anomalies results. Different theoretical models are considered that can explain the discrepancies from the Standard Model. In the final part of our work we estimate the impact of the forthcoming data from LHCb (coming from LHC Run3) and Belle II, when it will have accumulated about $5~ab^{-1}$

Anatomie della paternità. Padri e famiglia nella cultura romana

Poteri paterni nell'esperienza giuridica roman

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13_215delinsGCGTGA; c. 1159 + 2T > A) were associated with different clinical presentations and outcomes

Selective binding of anti-SMCfs serum to a library of non-natural sequence peptides printed on a microarray.

<p>Polyclonal rabbit serum generated against the SMCfs peptide conjugated to KLH and naive rabbit serum were applied to an array of 10,000 synthetic peptides of randomly generated sequence. Student’s t-test analyses comparing the probing results identified 108 non-natural sequence 20-mers with differential binding to the immune versus naïve sera (p-values <0.0001). These differences in peptide-binding intensities are visually represented as a heatmap.</p

Delirium in the "young" covid-19 patient (<65 years): preliminary clinical indications [Il delirium nel paziente covid-19 "giovane" (<65 anni): Indicazioni cliniche preliminari]

: Delirium is a phenomenon classified within neuro-cognitive disorders in the DSM-5. It has several etiologies and it is often lethal. This contribute aims at analyzing clinical characteristics and diagnostic possibilities of delirium in patients affected by covid-19. Furthermore, some preliminary recommendations on the use of psychopharmacological treatment of delirium and their interactions with main drugs used to treat covid-19 are given, with a special attention to comorbidities like in immunocompromised patients, in those affected by diabetes and cancer, in pregnant women or in addicted clients

Standard model anomalies: lepton flavour non-universality, g − 2 and W-mass

International audienceWe critically analyze the body of results that hints to the existence of New Physics from possible violations of lepton universality observed by the LHCb experiment in the μ/e ratios R$_{K}$ and ${R}_{K^{\ast }}$ to the g − 2 lepton anomalies. The analysis begins with a theoretical, in depth, study of the μ/e ratios R$_{K}$ and ${R}_{K^{\ast }}$ as well as the process B$_{s}$→ μ$^{+}$μ$^{−}$. Here we consider the impact of complex Wilson coefficients and derive constraints on their imaginary and real parts. We then move to a comprehensive comparison with experimental results. We show that, by fitting a single Wilson coefficient, the deviations from the Standard Model are at the 4.7σ level when including only the hadronic insensitive observables while it increases to 6.1σ when including also the hadronic sensitive ones. When switching on all relevant Wilson coefficients and combining both hadronic sensitive and insensitive data into the fit, the deviation from the Standard Model peaks at 7.2σ and decreases at the 4.9σ level if we assume that the central values of R$_{K}$ and ${R}_K^{\ast }$ are taken to be unity. We further estimate other unaccounted for SM contributions and show that their inclusion still requires New Physics to fit the data. We then introduce the g − 2 lepton anomalies as well as the most recent W-mass results. Different theoretical models are considered that can explain the discrepancies from the Standard Model. In the final part of our work we estimate the impact of the forthcoming data from LHCb (coming from LHC Run3) and Belle II, when it will have accumulated about 5 ab$^{−1}$