Search results for "Stein-"

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

2019

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…

Evaluation of the Architect Epstein-Barr Virus (EBV) Viral Capsid Antigen (VCA) IgG, VCA IgM, and EBV Nuclear Antigen 1 IgG Chemiluminescent Immunoas…

2014

ABSTRACTCommercial immunoassays for detecting IgG and IgM antibodies against Epstein-Barr virus (EBV), viral capsid antigens (VCA), and IgGs toward EBV nuclear antigen-1 (EBNA-1) are routinely used in combination to categorize EBV infection status. In this study, we evaluated the performances of the Architect EBV VCA IgG, VCA IgM, and EBNA-1 IgG chemiluminescent microparticle assays (CMIAs) in EBV serological analyses using indirect immunofluorescence assays and anticomplement immunofluorescence assays as the reference methods for VCA IgG, VCA IgM, and EBNA-1 IgG antibody detection, respectively. A total of 365 serum samples representing different EBV serological profiles were included in t…

Molecular signature of Epstein Barr virus-positive Burkitt lymphoma and post-transplant lymphoproliferative disorder suggest different roles for Epst…

2014

Epstein Barr virus (EBV) infection is commonly associated with human cancer and, in particular, with lymphoid malignancies. Although the precise role of the virus in the pathogenesis of different lymphomas is largely unknown, it is well recognized that the expression of viral latent proteins and miRNA can contribute to its pathogenetic role. In this study, we compared the gene and miRNA expression profile of two EBV-associated aggressive B non-Hodgkin lymphomas known to be characterized by differential expression of the viral latent proteins aiming to dissect the possible different contribution of such proteins and EBV-encoded miRNAs. By applying extensive bioinformatic inferring and an exp…

Non-linear systems under parametric a-stable Levý white noises

2005

Assessing molecular subtypes of gastric cancer: microsatellite unstable and Epstein-Barr virus subtypes. Methods for detection and clinical and patho…

2018

Background The molecular classification of gastric cancer recognises two subtypes prone to immune checkpoint blockade: the microsatellite unstable and the Epstein-Barr virus (EBV)-related tumours. We aim to assess the concordance between immunohistochemistry and PCR for microsatellite status evaluation, and explore the value of microsatellite instability (MSI) and EBV as predictive survival factors. Material and methods We collected 246 consecutively diagnosed gastric cancer cases in all stages and evaluated the microsatellite status using immunohistochemistry for mismatched repair (MMR) proteins and PCR. EBV expression was studied through in situ hybridisation. Results Forty-five (18%) cas…

Exposure to UV radiation and risk of Hodgkin lymphoma: A pooled analysis

2013

Ultraviolet radiation (UVR) exposure has been inversely associated with Hodgkin lymphoma (HL) risk, but only inconsistently, only in a few studies, and without attention to HL heterogeneity. We conducted a pooled analysis of HL risk focusing on type and timing of UVR exposure and on disease subtypes by age, histology, and tumor-cell Epstein-Barr virus (EBV) status. Four case-control studies contributed 1320HLcasesand 6381 controls. We estimated lifetime, adulthood, and childhood UVR exposure and history of sunburn and sunlamp use. We used 2-stage estimation with mixed-effects models and weighted pooled effect estimates by inverse marginal variances. We observed statistically significant inv…

Prevalence of HPV infection in racial-ethnic subgroups of head and neck cancer patients

2017

Abstract The landscape of human papillomavirus (HPV) infection in racial/ethnic subgroups of head and neck cancer (HNC) patients has not been evaluated carefully. In this study, a meta-analysis examined the prevalence of HPV in HNC patients of African ancestry. Additionally, a pooled analysis of subject-level data was also performed to investigate HPV prevalence and patterns of p16 (CDNK2A) expression amongst different racial groups. Eighteen publications (N = 798 Black HNC patients) were examined in the meta-analysis, and the pooled analysis included 29 datasets comprised of 3129 HNC patients of diverse racial/ethnic background. The meta-analysis revealed that the prevalence of HPV16 was h…

Non-linear systems under Levy White Noise Handled by path integration method

2009

Aim of this paper is an investigation on the consistency of the Path Integration (PI) method already proposed by Naess & Johansen, 1991,1993 for non-linear systems driven by α-stable white noise. It is shown that in the limit, as τ→0, the Einstein-Smoluchowsky (ES) equation is fully restored. Once the consistency of the PI is demonstrated for the half oscillator, then the extension of the ES equation for MDOF system is found starting from the PI method.

Duality-invariant Einstein-Planck relation and the speed of light at very short wavelengths

2011

We propose a generalized Einstein-Planck relation for photons which is invariant under the change $\ensuremath{\lambda}/a{l}_{P}$ to $a{l}_{P}/\ensuremath{\lambda}$, $\ensuremath{\lambda}$ being the photon wavelength, ${l}_{P}$ Planck's length, and $a$ a numerical constant. This yields a wavelength-dependent speed of light $v(\ensuremath{\lambda})=c/(1+{a}^{2}({l}_{P}/\ensuremath{\lambda}{)}^{2})$, with $c$ the usual speed of light in vacuo, indicating that the speed of light should decrease for sufficiently short wavelengths. We discuss the conceptual differences with the previous proposals related to a possible decrease of the speed of light for very short wavelengths based on quantum flu…

Clauser-Horne-Shimony-Holt Bell inequality test in an optomechanical device

2018

We propose here a scheme, based on the measurement of quadrature phase coherence, aimed at testing the Clauser-Horne-Shimony-Holt Bell inequality in an optomechanical setting. Our setup is constituted by two optical cavities dispersively coupled to a common mechanical resonator. We show that it is possible to generate EPR-like correlations between the quadratures of the output fields of the two cavities, and, depending on the system parameters, to observe the violation of the Clauser-Horne-Shimony-Holt inequality.