Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the onco...Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice.展开更多
Psoriatic arthritis (PsA) is a complex immune-mediated disease and its pathogenesis depends both on genetic factors and environment. PsA patients may present a wide range of clinical manifestations including skin and ...Psoriatic arthritis (PsA) is a complex immune-mediated disease and its pathogenesis depends both on genetic factors and environment. PsA patients may present a wide range of clinical manifestations including skin and nail abnormalities. Indeed, articular involvement is variable too. Disease development relies on a heterogeneous net made of multiple cytokines pathways which are regulated by several factors including human leucocyte antigen (HLA) expression, miRNAs, microbiome. Among genetic polymorphisms which can lead to abnormal cytokine expression, tumor necrosis factor (TNF) polymorphisms have been studied. Thus, leading to the development of new therapeutic agents. Finally, further studies on genetic factors and epigenetics will give new insights into this complex disorder. The aim of this mini-review is to provide the reader with a summary of the fundamental and most innovative aspects of genetic and epigenetic factors involved in the PsA, thus including human leucocyte antigen (HLA) expression, tumor necrosis factor (TNF) polymorphisms, micro RNAs and microbiome.展开更多
Measuring fluctuations in matter’s low-energy excitations is the key to unveiling the nature of the non-equilibrium response of materials.A promising outlook in this respect is offered by spectroscopic methods that a...Measuring fluctuations in matter’s low-energy excitations is the key to unveiling the nature of the non-equilibrium response of materials.A promising outlook in this respect is offered by spectroscopic methods that address matter fluctuations by exploiting the statistical nature of light-matter interactions with weak few-photon probes.Here we report the first implementation of ultrafast phase randomized tomography,combining pump-probe experiments with quantum optical state tomography,to measure the ultrafast non-equilibrium dynamics in complex materials.Our approach utilizes a time-resolved multimode heterodyne detection scheme with phase-randomized coherent ultrashort laser pulses,overcoming the limitations of phase-stable configurations and enabling a robust reconstruction of the statistical distribution of phase-averaged optical observables.This methodology is validated by measuring the coherent phonon response inα-quartz.By tracking the dynamics of the shot-noise limited photon number distribution of fewphoton probes with ultrafast resolution,our results set an upper limit to the non-classical features of phononic state inα-quartz and provide a pathway to access non-equilibrium quantum fluctuations in more complex quantum materials.展开更多
文摘Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice.
文摘Psoriatic arthritis (PsA) is a complex immune-mediated disease and its pathogenesis depends both on genetic factors and environment. PsA patients may present a wide range of clinical manifestations including skin and nail abnormalities. Indeed, articular involvement is variable too. Disease development relies on a heterogeneous net made of multiple cytokines pathways which are regulated by several factors including human leucocyte antigen (HLA) expression, miRNAs, microbiome. Among genetic polymorphisms which can lead to abnormal cytokine expression, tumor necrosis factor (TNF) polymorphisms have been studied. Thus, leading to the development of new therapeutic agents. Finally, further studies on genetic factors and epigenetics will give new insights into this complex disorder. The aim of this mini-review is to provide the reader with a summary of the fundamental and most innovative aspects of genetic and epigenetic factors involved in the PsA, thus including human leucocyte antigen (HLA) expression, tumor necrosis factor (TNF) polymorphisms, micro RNAs and microbiome.
基金supported by the European Research Council through the project INCEPT(grant agreement no.677488)D.F.,E.M.R.,A.M.,and G.J.acknowledge the support of the Gordon and Betty Moore Foundation through the grant(CENTQC).
文摘Measuring fluctuations in matter’s low-energy excitations is the key to unveiling the nature of the non-equilibrium response of materials.A promising outlook in this respect is offered by spectroscopic methods that address matter fluctuations by exploiting the statistical nature of light-matter interactions with weak few-photon probes.Here we report the first implementation of ultrafast phase randomized tomography,combining pump-probe experiments with quantum optical state tomography,to measure the ultrafast non-equilibrium dynamics in complex materials.Our approach utilizes a time-resolved multimode heterodyne detection scheme with phase-randomized coherent ultrashort laser pulses,overcoming the limitations of phase-stable configurations and enabling a robust reconstruction of the statistical distribution of phase-averaged optical observables.This methodology is validated by measuring the coherent phonon response inα-quartz.By tracking the dynamics of the shot-noise limited photon number distribution of fewphoton probes with ultrafast resolution,our results set an upper limit to the non-classical features of phononic state inα-quartz and provide a pathway to access non-equilibrium quantum fluctuations in more complex quantum materials.
