The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novoDNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals) included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%); obesity (weight ³2SD, 67%); hypotonia (54%); behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%); kyphoscoliosis (33%) and afebrile seizures (22%). One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS

Using enhanced number and brightness to measure protein oligomerization dynamics in live cells

Protein dimerization and oligomerization are essential to most cellular functions, yet measurement of the size of these oligomers in live cells, especially when their size changes over time and space, remains a challenge. A commonly used approach for studying protein aggregates in cells is number and brightness (N&B), a fluorescence microscopy method that is capable of measuring the apparent average number of molecules and their oligomerization (brightness) in each pixel from a series of fluorescence microscopy images. We have recently expanded this approach in order to allow resampling of the raw data to resolve the statistical weighting of coexisting species within each pixel. This feature makes enhanced N&B (eN&B) optimal for capturing the temporal aspects of protein oligomerization when a distribution of oligomers shifts toward a larger central size over time. In this protocol, we demonstrate the application of eN&B by quantifying receptor clustering dynamics using electron-multiplying charge-coupled device (EMCCD)-based total internal reflection microscopy (TIRF) imaging. TIRF provides a superior signal-to-noise ratio, but we also provide guidelines for implementing eN&B in confocal microscopes. For each time point, eN&B requires the acquisition of 200 frames, and it takes a few seconds up to 2 min to complete a single time point. We provide an eN&B (and standard N&B) MATLAB software package amenable to any standard confocal or TIRF microscope. The software requires a high-RAM computer (64 Gb) to run and includes a photobleaching detrending algorithm, which allows extension of the live imaging for more than an hour

Étude expérimentale de cristaux photoniques bi-dimensionnels

Les matériaux à bande interdite de photons (BIPs) ou cristaux photoniques, sont des structures, généralement artificielles, dont l'indice diélectrique varie périodiquement. Lorsque le contraste d'indice est fort, on prédit théoriquement qu'elles doivent empêcher la propagation de la lumière dans toutes les directions en créant des plages spectrales (les bandes interdites) à densité d'état de photons nulle. Nous avons étudié le comportement optique de cristaux photoniques bidimensionnels gravés dans des hétérostructures semiconductrices guidantes. L'originalité consiste à utiliser la photoluminescence de boîtes ou puits quantiques comme source lumineuse interne. Cette technique a permis d'effectuer une caractérisation complète de ces objets en mesurant quantitativement les coefficients de transmission et de réflexion ainsi que les propriétés de diffraction. Aux zones de faible transmission correspondent de forts coefficients de réflexion ou de diffraction, ce qui indique que l'onde reste guidée lors de l'interaction avec les cristaux et confirme leur fort potentiel pour l'optique intégrée. Nous avons utilisé ces réflecteurs pour réaliser des cavités, d'abord unidimensionnelles, qui montrent une bonne finesse en transmission, confirmant que les pertes hors du plan du guide sont faibles. Nous avons ensuite étudié des cavités tridimensionnelles de faible volume ($\sim 5~\mu$m3), sondées cette fois-ci à l'aide d'émetteurs internes à la cavité. L'apparition de pics étroits montre que l'effet de confinement est important et laisse présager de réelles potentialités de modification de l'émission spontanée

The influence of work intensity on postexercise proteinuria

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Quantitative measurement of transmission, reflection and diffraction of two-dimensional photonic bandgap structures at near-infrared wavelengths

We present quantitative measurements of the interaction between a guided optical wave and a two-dimensional photonic crystal using spontaneous emission of the material as an internal point source. This is the first analysis at near-infrared wavelengths where transmission, reflection, and inplane diffraction are quantified at the same time. Low transmission coincides with high reflection or in-plane diffraction, indicating that the light remains guided upon interaction. Also, good qualitative agreement is found with a two-dimensional simulation based on the transfer matrix method.</p