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The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.

Ras GTPase-activating proteins (RasGAPs) inhibit signal transduction initiated through the Ras small GTP-binding protein. However, which members of the RasGAP family act as negative regulators of T cell responses is not completely understood. In this study, we investigated potential roles for the RasGAPs RASA1 and neurofibromin 1 (NF1) in T cells through the generation and analysis of T cell-specific RASA1 and NF1 double-deficient mice. In contrast to mice lacking either RasGAP alone in T cells, double-deficient mice developed T cell acute lymphoblastic leukemia/lymphoma, which originated at an early point in T cell development and was dependent on activating mutations in the Notch1 gene. These findings highlight RASA1 and NF1 as cotumor suppressors in the T cell lineage.

This work compares photoacoustic images of a tooth by analyzing the signals generated with wavelengths 532 and 355 nm. This comparison addresses the differences in the optical properties of dental tissue for these wavelengths that affect the resulting photoacoustic images. A pulsed Nd:YAG laser was used to illuminate a complete extracted tooth sample, and 2D photoacoustic images (PAIs) were reconstructed using the single-sensor scanning synthetic aperture focusing technique (SSC-SAFT), which is a suitable method for our experimental system with forward detection mode. Signal comparison was conducted using sinogram, signal-to-noise ratio (SNR), root mean square (RMS), arrival time, maximum amplitude, and fast Fourier transform (FFT). PAI comparison utilized intensity profile, edge correlation, and image composition tools. The signal analysis revealed that at 532 nm, the signals exhibited longer decay time and a wider distribution of vibration frequencies due to higher laser pulse energy and greater optical penetration depth. Conversely, at 355 nm, the signals had shorter decay times and a lower frequency distribution, which was attributed to lower energy but improved optical absorption, resulting in reconstructed images with better sharpness and contour definition. This study contributes to the advancement of photoacoustic imaging technology in dentistry by providing insights that could optimize signal generation and image reconstruction for dental tissue. [ABSTRACT FROM AUTHOR]

Neurotrophic factors, such as brain-derived neurotrophic factor (BDNF), are associated with the physiology of the striatum and the loss of its normal functioning under pathological conditions. The role of BDNF and its downstream signaling in regulating the development of the striatum has not been fully investigated, however. Here we report that ablation of Bdnf in both the cortex and substantia nigra depletes BDNF in the striatum, and leads to impaired striatal development, severe motor deficits, and postnatal lethality. Furthermore, striatal-specific ablation of TrkB, the gene encoding the high-affinity receptor for BDNF, is sufficient to elicit an array of striatal developmental abnormalities, including decreased anatomical volume, smaller neuronal nucleus size, loss of dendritic spines, reduced enkephalin expression, diminished nigral dopaminergic projections, and severe deficits in striatal dopamine signaling through DARPP32. In addition, TrkB ablation in striatal neurons elicits a non-cell-autonomous reduction of tyrosine hydroxylase protein level in the axonal projections of substantia nigral dopaminergic neurons. Thus, our results establish an essential function for TrkB in regulating the development of striatal neurons.

Appropriate responses to an imminent threat brace us for adversities. The ability to sense and predict threatening or stressful events is essential for such adaptive behaviour. In the mammalian brain, [...]

Photonic crystals (PCs) are nanomaterials with photonic properties made up of periodically modulated dielectric materials that reflect light between a wavelength range located in the photonic band gap. Colloidal PCs (C-PC) have been proposed for several applications such as optical platforms for the formation of physical, chemical, and biological sensors based on a chromatic response to an external stimulus. In this work, a robust protocol for the elaboration of photonic crystals based on SiO2 particle (SP) deposition using the vertical lifting method was studied. A wide range of lifting speeds and particle suspension concentrations were investigated by evaluating the C-PC reflectance spectrum. Thinner and higher reflectance peaks were obtained with a decrease in the lifting speed and an increase in the SP concentrations up to certain values. Seven batches of twelve C-PCs employing a SP 3% suspension and a lifting speed of 0.28 µm/s were prepared to test the reproducibility of this method. Every C-PC fabricated in this assay has a wavelength peak in a range of 10 nm and a peak width lower than 90 nm. Inverse-opal polymeric films with a highly porous and interconnected morphology were obtained using the developed C-PC as a template. Overall, these results showed that reproducible colloidal crystals could be elaborated on a large scale with a simple apparatus in a short period, providing a step forward in the scale-up of the fabrication of photonic colloidal crystal and IO structures as those employed for the elaboration of photonic polymeric sensors. [ABSTRACT FROM AUTHOR]