574 research outputs found
Signatures of Parafermion Zero Modes in Fractional Quantum Hall-Superconductor Heterostructures
Parafermion zero modes can arise in hybrid structures composed of
fractional quantum Hall edges proximitized with an s-wave superconductor. Here
we consider parafermion and Cooper pair tunneling, and backscattering in a
junction formed in such hybrid structures. We find that the
periodicity due to parafermion-only tunneling reduces, in the presence of
backscattering, to -periodic at zero temperature and -periodic at
finite temperature unless the fermion parity is fixed. Nevertheless, a clear
signature of parafermion tunneling remains in the shape of the current-phase
relation.Comment: 6 pages, 4 figure
Constraints on the symmetry energy and on neutron skins from the pygmy resonances in 68Ni and 132Sn
Correlations between the behavior of the nuclear symmetry energy, the neutron
skins, and the percentage of energy-weighted sum rule (EWSR) exhausted by the
Pygmy Dipole Resonance (PDR) in 68Ni and 132Sn have been investigated by using
different Random Phase Approximation (RPA) models for the dipole response,
based on a representative set of Skyrme effective forces plus meson-exchange
effective Lagrangians. A comparison with the experimental data has allowed us
to constrain the value of the derivative of the symmetry energy at saturation.
The neutron skin radius is deduced under this constraint.Comment: Accepted for publication in PRC Rapid Comminicatio
Loss of chromosome 3q is a prognostic marker in fusion-negative rhabdomyosarcoma
PURPOSE: Soft tissue sarcomas (STS) are rare mesenchymal neoplasms that frequently show complex chromosomal aberrations such as amplifications or deletions of DNA sequences or even whole chromosomes. We recently found that gain of chromosome (chr) 8 is associated with worse overall survival (OS) in STS as a group. We therefore aimed to investigate the overall copy number profile of rhabdomyosarcoma (RMS) to evaluate for prognostic signatures.
METHODS: Fluorescence in situ hybridization (FISH) testing was performed on a cohort of STS to assess for chr8 gain. Copy number variation (CNV) data from the National Cancer Institute were analyzed to assess for prognostically significant CNV aberrations in
RESULTS: Chr8 gain is a highly prevalent CNV in embryonal RMS and shows slightly improved prognosis. Meanwhile, loss of chr3q was associated with worse outcome in FN-RMS compared with FP-RMS.
CONCLUSION: The pathogenesis of STS including FN-RMS remains poorly understood, emphasizing the need for new therapeutic advances and adequate risk stratification. Our data demonstrate that loss of chr3q is associated with poor OS in FN-RMS, supporting it as an important tool for risk stratification
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry
OBJECTIVES:
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA.
SETTING:
Italy.
PARTICIPANTS:
66 index cases and 33 relatives carrying 1-3 DRA.
OUTCOMES:
The clinical examination was performed using the standardised FSHD evaluation form with validated inter-rater reliability. To investigate the earliest signs of disease, we designed the Infantile Anamnestic Questionnaire (IAQ). Comparison of age at onset was performed using the non-parametric Wilcoxon rank-sum or Kruskal-Wallis test. Comparison of the FSHD score was performed using a general linear model and Wald test. Kaplan-Meier survival analysis was used to estimate the age-specific cumulative motor impairment risk.
RESULTS:
No patients had perinatal onset. Among index cases, 36 (54.5%) showed the first signs by 10 years of age. The large majority of patients with early disease onset (26 out of 36, 72.2%) were de novo; whereas the majority of patients with disease onset after 10 years of age were familial (16, 53.3%). Comparison of the disease severity outcome between index cases with age at onset before and over 10 years of age, failed to detect statistical significance (Wald test p value=0.064). Of 61 index cases, only 17 (27.9%) presented extra-muscular conditions. Relatives carrying 1-3 DRA showed a large clinical variability ranging from healthy subjects, to patients with severe motor impairment.
CONCLUSIONS:
The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity
A genetic mouse model with postnatal Nf1 and p53 loss recapitulates the histology and transcriptome of human malignant peripheral nerve sheath tumor
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas. Somatic inactivation of
METHODS: We combined 2 genetically modified alleles, an
RESULTS: Postnatal
CONCLUSIONS: The NP-Plp model recapitulates human MPNST genetically, histologically, and molecularly
KILT: a Benchmark for Knowledge Intensive Language Tasks
Challenging problems such as open-domain question answering, fact checking,
slot filling and entity linking require access to large, external knowledge
sources. While some models do well on individual tasks, developing general
models is difficult as each task might require computationally expensive
indexing of custom knowledge sources, in addition to dedicated infrastructure.
To catalyze research on models that condition on specific information in large
textual resources, we present a benchmark for knowledge-intensive language
tasks (KILT). All tasks in KILT are grounded in the same snapshot of Wikipedia,
reducing engineering turnaround through the re-use of components, as well as
accelerating research into task-agnostic memory architectures. We test both
task-specific and general baselines, evaluating downstream performance in
addition to the ability of the models to provide provenance. We find that a
shared dense vector index coupled with a seq2seq model is a strong baseline,
outperforming more tailor-made approaches for fact checking, open-domain
question answering and dialogue, and yielding competitive results on entity
linking and slot filling, by generating disambiguated text. KILT data and code
are available at https://github.com/facebookresearch/KILT.Comment: accepted at NAACL 202
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