Harel-Yoon syndrome caused by a novel variant in ATAD3A: A case report.

Objectives: To describe the clinical feature of a very recently identified phenotype associated with ATAD3A variation. Methods: A neonate with Harel-Yoon syndrome was identified. We describe the proband's clinical and radiological features. The affected newborn and her parents underwent whole-exome sequencing and PCR-Sanger sequencing. Results: Previously reported clinical manifestations were rare in the neonatal period, including unmanageable seizures necessitating the use of multiple drugs, congenital laryngeal stridor, hypotonia, challenges with feeding, corneal opacity, and subsequent demise due to respiratory failure. Molecular investigations have unveiled the presence of a newly identified heterozygous single-base substitution (c.1517A > C; p.Q506P) within the ATAD3A gene. Discussion: This study unveils a novel single-base substitution, thereby expanding the mutation spectrum associated with ATAD3A. Furthermore, the clinical characteristics exhibited during the neonatal phase are comprehensively described, potentially facilitating improved clinical recognition of ATAD3A-associated HAYOS.

MYH9: A key protein involved in tumor progression and virus-related diseases.

The myosin heavy chain 9 (MYH9) gene encodes the heavy chain of non-muscle myosin IIA (NMIIA), which belongs to the myosin II subfamily of actin-based molecular motors. Previous studies have demonstrated that abnormal expression and mutations of MYH9 were correlated with MYH9-related diseases and tumors. Furthermore, earlier investigations identified MYH9 as a tumor suppressor. However, subsequent research revealed that MYH9 promoted tumorigenesis, progression and chemoradiotherapy resistance. Note-worthily, MYH9 has also been linked to viral infections, like severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Epstein-Barr virus, and hepatitis B virus, as a receptor or co-receptor. In addition, MYH9 promotes the development of hepatocellular carcinoma by interacting with the hepatitis B virus-encoding X protein. Finally, various findings highlighted the role of MYH9 in the development of these illnesses, especially in tumors. This review summarizes the involvement of the MYH9-regulated signaling network in tumors and virus-related diseases and presents possible drug interventions on MYH9, providing insights for the use of MYH9 as a therapeutic target for tumors and virus-mediated diseases.

FGFR families: biological functions and therapeutic interventions in tumors.

There are five fibroblast growth factor receptors (FGFRs), namely, FGFR1-FGFR5. When FGFR binds to its ligand, namely, fibroblast growth factor (FGF), it dimerizes and autophosphorylates, thereby activating several key downstream pathways that play an important role in normal physiology, such as the Ras/Raf/mitogen-activated protein kinase kinase/extracellular signal-regulated kinase, phosphoinositide 3-kinase (PI3K)/AKT, phospholipase C gamma/diacylglycerol/protein kinase c, and signal transducer and activator of transcription pathways. Furthermore, as an oncogene, FGFR genetic alterations were found in 7.1% of tumors, and these alterations include gene amplification, gene mutations, gene fusions or rearrangements. Therefore, FGFR amplification, mutations, rearrangements, or fusions are considered as potential biomarkers of FGFR therapeutic response for tyrosine kinase inhibitors (TKIs). However, it is worth noting that with increased use, resistance to TKIs inevitably develops, such as the well-known gatekeeper mutations. Thus, overcoming the development of drug resistance becomes a serious problem. This review mainly outlines the FGFR family functions, related pathways, and therapeutic agents in tumors with the aim of obtaining better outcomes for cancer patients with FGFR changes. The information provided in this review may provide additional therapeutic ideas for tumor patients with FGFR abnormalities.

An Improved YOLOX Algorithm for Forest Insect Pest Detection.

A large number of insect pests in the forest will seriously affect the construction of forest resources and agriculture in China. In this regard, in order to deeply understand and analyze the existing forest pest detection technology, it is found that it cannot meet practical needs. In order to prevent the harm caused by forest pests, it is necessary to correctly identify the types of pests and take targeted control measures. Therefore, this paper proposes a forest pest detection algorithm based on improved YOLOX. Firstly, aiming at the problem that there are few image data of real deep forest pests in the wild, we use Mosaic, Mixup, and random erasure data enhancement to preprocess the images. Secondly, in order to extract fine-grained features, shallow information is introduced into the existing network architecture, and a two-way cross-scale feature fusion mechanism is adopted. Finally, the improved YOLOX algorithm proposed in this paper has achieved the best results on the public forest pest dataset IP102.

Improving the performance of computational ghost imaging by using a quadrant detector and digital micro-scanning.

Computational ghost imaging systems reconstruct images using a single element detector, which measures the level of correlation between the scene and a set of projected patterns. The sequential nature of these measurements means that increasing the system frame-rate reduces the signal-to-noise ratio (SNR) of the captured images. Furthermore, a higher spatial resolution requires the projection of more patterns, and so both frame-rate and SNR suffer from the increase of the spatial resolution. In this work, we combat these limitations by developing a hybrid few-pixel imaging system that combines structured illumination with a quadrant photodiode detector. To further boost the SNR of our system, we employ digital micro-scanning of the projected patterns. Experimental results show that our proposed imaging system is capable of reconstructing images 4 times faster and with ~33% higher SNR than a conventional single-element computational ghost imaging system utilizing orthogonal Hadamard pattern projection. Our work demonstrates a computational imaging system in which there is a flexible trade-off between frame-rate, SNR and spatial resolution, and this trade-off can be optimized to match the requirements of different applications.