Epilepsy Therapy Goes Viral.

[Box: see text]

Genomic alterations of primary tumor and blood in invasive ductal carcinoma of breast

<p>Abstract</p> <p>Background</p> <p>Genomic alterations are important events in the origin and progression of various cancers, with DNA copy number changes associated with progression and treatment response in cancer. Array CGH is potentially useful in the identification of genomic alterations from primary tumor and blood in breast cancer patients. The aim of our study was to compare differences of DNA copy number changes in blood and tumor tissue in breast cancer.</p> <p>Methods</p> <p>DNA copy number changes in blood were compared to those in tumor tissue using array-comparative genomic hybridization in samples obtained from 30 breast cancer patients. The relative degree of chromosomal changes was analyzed using log2 ratios and data was validated by real-time polymerase chain reaction.</p> <p>Results</p> <p>Forty-six regions of gains present in more than 30% of the tissues and 70 regions of gains present in more than 30% of blood were identified. The most frequently gained region was chromosome 8q24. In total, agreement of DNA copy numbers between primary tumor and blood was minimal (Kappa = 0.138, p < 0.001).</p> <p>Conclusion</p> <p>Although there was only a slight agreement of DNA copy number alterations between the primary tumor and the blood samples, the blood cell copy number variation may have some clinical significance as compared to the primary tumor in IDC breast cancer patients.</p

Chiral electroluminescence from thin-film perovskite metacavities

Chiral light sources realized in ultracompact device platforms are highly desirable for various applications. Among active media employed for thin-film emission devices, lead-halide perovskites have been extensively studied for photoluminescence due to their exceptional properties. However, up to date, there have been no demonstrations of chiral electroluminescence with a substantial degree of circular polarization (DCP), being critical for the development of practical devices. Here, we propose a new concept of chiral light sources based on a thin-film perovskite metacavity and experimentally demonstrate chiral electroluminescence with DCP approaching 0.38. We design a metacavity created by a metal and a dielectric metasurface supporting photonic eigenstates with close-to-maximum chiral response. Chiral cavity modes facilitate asymmetric electroluminescence of pairs of left and right circularly polarized waves propagating in the opposite oblique directions. The proposed ultracompact light sources are especially advantageous for many applications requiring chiral light beams of both helicities.Comment: 20 pages, 4 figure

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

Background GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations. Results Six patients who participated in Korean Undiagnosed Disease Program were diagnosed to have pathogenic or likely pathogenic variants in GNAO1 using whole exome sequencing. All medical records and personal video clips were analyzed with a literature review. Three of the 6 patients were male. Median follow-up duration was 41 months (range 7–78 months) and age at last examination was 7.4 years (range 3.3–16.9 years). Initial complaints were hypotonia or developmental delay in 5 and right-hand clumsiness in 1 patient, which were noticed at median age of 3 months (range 0–75 months). All patients showed global developmental delay and 4 had severely retarded development. Five patients (5/6, 83.3%) had many different movement symptoms with various onset and progression. The symptoms included stereotyped hands movement, non-epileptic myoclonus, dyskinesia, dystonia and choreoathetosis. Whole exome sequencing identified 6 different variants in GNAO1. Three were novel de novo variants and atypical presentation was noted in a patient. One variant turned out to be inherited from patients mother who had mosaic variant. Distinct and characteristics movement phenotypes in patients with variant p.Glu246Lys and p.Arg209His were elucidated by in-depth phenotyping and literature review. Conclusions We reported 6 patients with GNAO1 encephalopathy showing an extremely diverse clinical spectrum on video. Some characteristic movement features identified by careful inspection may also provide important diagnostic insight and practice guidelines.This study was supported by a research program funded by the Korea Centers for Disease Control and Prevention (Grant No. 2018-ER6901-02)