Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

[Neuronal models based on olfactory epithelial cells in the study of the pathogenesis of mental disorders].

Mental disorders are complex illnesses with multifactorial etiologies involving genetic and environmental components. This review focuses on cellular models derived from the olfactory epithelium as a promising tool to study the molecular mechanisms of some neuropsychiatric diseases. The authors consider cell lines allowing the identification of potential biomarkers and pathogenetic mechanisms of schizophrenia, bipolar disorder, and Alzheimer's disease.

Aneurysm Is Restricted by CD34 Cell-Formed Fibrous Collars Through the PDGFRb-PI3K Axis.

Aortic aneurysm is a life-threatening disease caused by progressive dilation of the aorta and weakened aortic walls. Its pathogenesis involves an imbalance between connective tissue repair and degradation. CD34 cells comprise a heterogeneous population that exhibits stem cell and progenitor cell properties.

The Efficacy of Liquid Biopsy of Total cfDNA for Predicting Systemic Metastasis in Japanese Patients With Oral Squamous Cell Carcinoma.

Background: The use of liquid biopsy of total cell-free DNA (cfDNA) to identify otherwise undetectable cancers has attracted interest; however, its efficacy remains unknown. We explored whether analysis using total cfDNA is efficacious for Japanese patients with oral squamous cell carcinoma (OSCC).

Methods: We collected total cfDNA from nine patients with OSCC preoperatively, 1 month postoperatively, and every 3 months thereafter to analyze this association.

Barriers and Carriers for Transition Metal Homeostasis in Plants.

Transition metals are a type of metal with high chemical activity and play critical roles in plant growth and development, reproduction and environmental adaptation, as well as for human health. However, the acquisition, transportation and storage of these metals always pose specific challenges due to their nature of high reactivity and poor solubility. In addition, distinct yet interconnected apoplastic and symplastic diffusion barriers impede their movement throughout the plants.

The OsMAPK6-OsWRKY72 module positively regulates rice leaf angle through brassinosteroid signals.

Leaf angle is a major agronomic trait that determines plant architecture, which directly affects rice planting density, photosynthetic efficiency, and yield. The plant phytohormones brassinosteroids (BRs) and the MAPK signaling cascade are known to play crucial roles in regulating the leaf angle, but the underlying molecular mechanisms are not fully understood. Here, we report a rice WRKY family transcription factor gene, OsWRKY72, which positively regulates leaf angle by affecting lamina joint development and BR signaling.

Deficiency of ATF3 facilitates both angiotensin II-induced and spontaneously formed aortic aneurysm and dissection development by activating cGAS-STING pathway.

Background: Sporadic aortic aneurysm and dissection (AAD) is a critical condition characterised by the progressive loss of vascular smooth muscle cells (VSMCs) and the breakdown of the extracellular matrix. However, the molecular mechanisms responsible for the phenotypic switch and loss of VSMCs in AAD are not fully understood.

Methods And Results: In this study, we employed a discovery-driven, unbiased approach.

Revealing the heterogeneity of treatment resistance in less-defined subtype diffuse large B cell lymphoma patients by integrating programmed cell death patterns and liquid biopsy.

Precision medicine in less-defined subtype diffuse large B-cell lymphoma (DLBCL) remains a challenge due to the heterogeneous nature of the disease. Programmed cell death (PCD) pathways are crucial in the advancement of lymphoma and serve as significant prognostic markers for individuals afflicted with lymphoid cancers. To identify robust prognostic biomarkers that can guide personalized management for less-defined subtype DLBCL patients, we integrated multi-omics data derived from 339 standard R-CHOP-treated patients diagnosed with less-defined subtype DLBCL from three independent cohorts.

Synthetic photoplethysmogram (PPG) signal generation using a genetic programming-based generative model.

Nowadays, photoplethysmograph (PPG) technology is being used more often in smart devices and mobile phones due to advancements in information and communication technology in the health field, particularly in monitoring cardiac activities. Developing generative models to generate synthetic PPG signals requires overcoming challenges like data diversity and limited data available for training deep learning models. This paper proposes a generative model by adopting a genetic programming (GP) approach to generate increasingly diversified and accurate data using an initial PPG signal sample.

Revolutionising Cancer Immunotherapy: Advancements and Prospects in Non-Viral CAR-NK Cell Engineering.

The recent advancements in cancer immunotherapy have spotlighted the potential of natural killer (NK) cells, particularly chimeric antigen receptor (CAR)-transduced NK cells. These cells, pivotal in innate immunity, offer a rapid and potent response against cancer cells and pathogens without the need for prior sensitization or recognition of peptide antigens. Although NK cell genetic modification is evolving, the viral transduction method continues to be inefficient and fraught with risks, often resulting in cytotoxic outcomes and the possibility of insertional mutagenesis.

The evolution of cephalic fins in manta rays and their relatives: functional evidence for initiation of domain splitting and modulation of the Wnt signaling pathway in the pectoral fin AER of the little skate.

Background: Batoids possess a unique body plan associated with a benthic lifestyle that includes dorsoventral compression and anteriorly expanded pectoral fins that fuse to the rostrum. The family Myliobatidae, including manta rays and their relatives, exhibit further modifications associated with invasion of the pelagic environment, and the evolution of underwater flight. Notably, the pectoral fins are split into two domains with independent functions that are optimized for feeding and oscillatory locomotion.

Canid alphaherpesvirus 1 infection alters the gene expression and secretome profile of canine adipose-derived mesenchymal stem cells in vitro.

Background: Canine adipose-derived mesenchymal stem cells (cAD-MSCs) demonstrate promising tissue repair and regeneration capabilities. However, the procurement and preservation of these cells or their secreted factors for therapeutic applications pose a risk of viral contamination, and the consequences for cAD-MSCs remain unexplored. Consequently, this research sought to assess the impact of canid alphaherpesvirus 1 (CHV) on the functional attributes of cAD-MSCs, including gene expression profiles and secretome composition.

Organoids as a model system for researching human neuroendocrine tumor of the breast.

Background: Neuroendocrine tumors primarily consist of endocrine cells commonly located in neural tissue and the endocrine system. Primary neuroendocrine neoplasms of the breast are highly heterogeneous tumors characterized by a diverse cell population. Their rarity in the breast poses considerable challenges in studying their pathogenesis and developing effective treatments.

Metagenome-validated combined amplicon sequencing and text mining-based annotations for simultaneous profiling of bacteria and fungi: vaginal microbiota and mycobiota in healthy women.

Background: Amplicon sequencing of kingdom-specific tags such as 16S rRNA gene for bacteria and internal transcribed spacer (ITS) region for fungi are widely used for investigating microbial communities. So far most human studies have focused on bacteria while studies on host-associated fungi in health and disease have only recently started to accumulate. To enable cost-effective parallel analysis of bacterial and fungal communities in human and environmental samples, we developed a method where 16S rRNA gene and ITS1 amplicons were pooled together for a single Illumina MiSeq or HiSeq run and analysed after primer-based segregation.

CPSF4-mediated regulation of alternative splicing of HMG20B facilitates the progression of triple-negative breast cancer.

Background: Aberrant alternative splicing (AS) contributes to tumor progression. A crucial component of AS is cleavage and polyadenylation specificity factor 4 (CPSF4). It remains unclear whether CPSF4 plays a role in triple-negative breast cancer (TNBC) progression through AS regulation.

Distinct microbes, metabolites, and the host genome define the multi-omics profiles in right-sided and left-sided colon cancer.

Background: Studies have reported clinical heterogeneity between right-sided colon cancer (RCC) and left-sided colon cancer (LCC). However, none of these studies used multi-omics analysis combining genetic regulation, microbiota, and metabolites to explain the site-specific difference.

Methods: Here, 494 participants from a 16S rRNA gene sequencing cohort (50 RCC, 114 LCC, and 100 healthy controls) and a multi-omics cohort (63 RCC, 79 LCC, and 88 healthy controls) were analyzed.

Mutation of lysine-specific demethylase 5 is associated with enhanced tumor immunity and favorable outcomes in pan-cancer immune checkpoint blockade.

The lysine-specific demethylase 5 (KDM5) family, a key post-translational modification of chromatin, can shape tumor immune microenvironment. Here, we performed an extensive clinical and bioinformatic analysis to explore the association between KDM5 mutation and tumor immunity and its impact on the outcomes in pan-cancer immunotherapy. In 2943 patients across 12 tumor types treated with immune checkpoint inhibitors, KDM5-mutant tumors were associated with favorable overall survival (hazard ratio, 0.

Advances in A-to-I RNA editing in cancer.

RNA modifications are widespread throughout the mammalian transcriptome and play pivotal roles in regulating various cellular processes. These modifications are strongly linked to the development of many cancers. One of the most prevalent forms of RNA modifications in humans is adenosine-to-inosine (A-to-I) editing, catalyzed by the enzyme adenosine deaminase acting on RNA (ADAR) in double-stranded RNA (dsRNA).

Reduced gut microbiota diversity in ulcerative colitis patients with latent tuberculosis infection during vedolizumab therapy: insights on prophylactic anti-tuberculosis effects.

Background: The gut microbiota plays a pivotal role in ulcerative colitis (UC) development. This study explores the impact of latent tuberculosis infection (LTBI) on the gut microbiota in UC and assesses changes during vedolizumab treatment, investigating prophylactic anti-tuberculosis therapy.

Results: This cohort study included adult patients with UC receiving vedolizumab treatment at Jinhua Hospital, Zhejiang University from April 2021 to December 2022.

Choline metabolism modulates cyclic-di-GMP signaling and virulence of Pseudomonas aeruginosa in a macrophage infection model.

Background: Bacterial pathogens frequently encounter host-derived metabolites during their colonization and invasion processes, which can serve as nutrients, antimicrobial agents, or signaling molecules for the pathogens. The essential nutrient choline (Cho) is widely known to be utilized by a diverse range of bacteria and may undergo conversion into the disease-associated metabolite trimethylamine (TMA). However, the impact of choline metabolism on bacterial physiology and virulence remains largely unexplored.

Abnormalities in rich-club connections are associated with an exacerbation of genetic susceptibility to schizophrenia.

Background: Schizophrenia (SZ) is a highly heritable and heterogeneous disorder that is often associated with widespread structural brain abnormalities. However, the causes of interindividual differences in genetic susceptibility remain largely unknown. This study attempted to address this important issue by utilizing a prospective study in which unaffected first-degree relatives of SZ (FH+) were recruited.

Development and validation of a nomogram model based on blood-based genomic mutation signature for predicting the risk of brain metastases in non-small cell lung cancer.

Purpose: Available research indicates that the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway is significantly correlated with lung cancer brain metastasis (BM). This study established a clinical predictive model for assessing the risk of BM based on the mTORC1-related single nucleotide polymorphisms (SNPs).

Methods: In this single-center retrospective study, 395 patients with non-small cell lung cancer were included.

Microalgae for bioremediation: advances, challenges, and public perception on genetic engineering.

The increase in the global population and industrial activities has led to an extensive use of water, the release of wastewater, and overall contamination of the environment. To address these issues, efficient treatment methods have been developed to decrease wastewater nutrient content and contaminants. Microalgae are a promising tool as a sustainable alternative to traditional wastewater treatment.

Comparative transcriptome analysis and heterologous overexpression indicate that the ZjZOG gene may positively regulate the size of jujube fruit.

Background: Fruit size is a crucial economic trait that impacts the quality of jujube (Ziziphus jujuba), however, research in this area remains limited. This study utilized two jujube cultivars with similar genetic backgrounds but differing fruit sizes to investigate the regulatory mechanisms affecting fruit size through cytological observations, transcriptome sequencing, and heterologous overexpression.

Results: The findings reveal that variations in mesocarp cell numbers during early fruit development significantly influence final fruit size.

Understanding the triacylglycerol-based carbon anabolic differentiation in Cyperus esculentus and Cyperus rotundus developing tubers via transcriptomic and metabolomic approaches.

Background: Yellow nutsedge (Cyperus esculentus, known as 'YouShaDou' in China, YSD) and purple nutsedge (Cyperus rotundus, known as 'XiangFuZi' in China, XFZ), closely related Cyperaceae species, exhibit significant differences in triacylglycerol (TAG) accumulation within their tubers, a key factor in carbon flux repartitioning that highly impact the total lipid, carbohydrate and protein metabolisms. Previous studies have attempted to elucidate the carbon anabolic discrepancies between these two species, however, a lack of comprehensive genome-wide annotation has hindered a detailed understanding of the underlying molecular mechanisms.

Results: This study utilizes transcriptomic analyses, supported by a comprehensive YSD reference genome, and metabolomic profiling to uncover the mechanisms underlying the major carbon perturbations between the developing tubers of YSD and XFZ germplasms harvested in Yunnan province, China, where the plant biodiveristy is renowned worldwide and may contain more genetic variations relative to their counterparts in other places.