Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Background: Familial focal epilepsy with variable foci 2 (FFEVF2), an autosomal dominant disorder caused by pathogenic heterozygous variants in the gene, is characterized by focal epilepsy originating in different cortical regions of the temporal, frontal, parietal, and occipital lobes of the brain.

Methods: The study included a Chinese family in which proband had epilepsy, and her brother had autism, attention deficit hyperactivity disorder (ADHD), and mild intellectual disability (ID). Blood samples of the two children and their parents were collected for whole exome sequencing (WES).

Association between dietary index for gut microbiota and hypertension: a large cross-sectional study from NHANES.

Background: Gut microbiota is strongly associated with hypertension. The Dietary Index of Gut Microbiota (DI-GM) is a newly proposed indicator of the diversity of gut microbiota in the diet. However, the relationship between DI-GM and hypertension is unclear.

Perinatal adverse outcomes in twin pregnancies with preeclampsia complicated by distinct gestational diabetes subtypes.

Background: The impact of gestational diabetes mellitus (GDM) complicated with preeclampsia (PE) on perinatal outcomes in twin pregnancies, particularly across different GDM subtypes, remains unclear.

Methods: This case-control study included 1,263 twin pregnancies with GDM and categorized participants as follows: (i) GDM without PE and GDM with PE groups, and (ii) GDM subgroups based on oral glucose tolerance test (OGTT) values at different time points, including GDM-IFH, GDM-IPH, and GDM-CH. Initially, the study investigated risk factors for PE occurrence in women with GDM.

HERB 2.0: an updated database integrating clinical and experimental evidence for traditional Chinese medicine.

Clinical trials and meta-analyses are considered high-level medical evidence with solid credibility. However, such clinical evidence for traditional Chinese medicine (TCM) is scattered, requiring a unified entrance to navigate all available evaluations on TCM therapies under modern standards. Besides, novel experimental evidence has continuously accumulated for TCM since the publication of HERB 1.

Sustainability through Biomimicry: A Comprehensive Review of Bionic Design Applications.

The research objective of this paper is to examine the role of bionic design in advancing sustainable development within industrial design by outlining its theoretical framework; analyzing its applications in morphological, functional, and material aspects; identifying current challenges; and projecting future trends toward eco-integration, resource efficiency, and technological innovation. First, the definition, development history, and theoretical basis of the sustainable development of bionic design are outlined. Secondly, the application of bionic design in sustainable industrial design is analyzed in depth, including the application of morphological bionic design in exploring the combination of nature and innovation, the role of functional bionic design in integrating biological function and product innovation, and the harmonious unification of material bionic and environmental friendliness.

Technical note: A GPU-based shared Monte Carlo method for fast photon transport in multi-energy x-ray exposures.

Background: The Monte Carlo (MC) method is an accurate technique for particle transport calculation due to the precise modeling of physical interactions. Nevertheless, the MC method still suffers from the problem of expensive computational cost, even with graphics processing unit (GPU) acceleration. Our previous works have investigated the acceleration strategies of photon transport simulation for single-energy CT.

An advanced approach for rapid visual identification of Liposcelis bostrychophila (Psocoptera: Liposcelididae) based on CRISPR/Cas12a combined with RPA.

Liposcelis bostrychophila Badonnel (Psocoptera: Liposcelididae) is a booklouse pest that is a threat to commodity storage security worldwide. Accurate and sensitive methods of L. bostrychophila on-site identification are essential prerequisites for its effective management.

Non-enzymatic browning of a composite puree of , snow pear, and apple: kinetic modeling and correlation analysis.

snow pear, and apple composite fruit puree can be affected by non-enzymatic browning during storage decreasing the market value of the product. This study aimed to explore, using kinetic methods, the effects of non-enzymatic precursors (polyphenols and ascorbic acid) and intermediates (5-hydroxymethylfurfural) on fruit puree stored at 4 °C for 35 days. The results showed that ascorbic acid fitted the first-order reaction model, while the 5-hydroxymethylfurfural was consistent with the complex reaction model.

A chromosome-level genome of the booklouse, Liposcelis brunnea, provides insight into louse evolution and environmental stress adaptation.

Background: Booklice (psocids) in the genus Liposcelis (Psocoptera: Liposcelididae) are a group of important storage pests, found in libraries, grain storages, and food-processing facilities. Booklice are able to survive under heat treatment and typically possess high resistance to common fumigant insecticides, hence posing a threat to storage security worldwide.

Results: We assembled the genome of the booklouse, L.

The Effects of Different Induction Chemotherapy Cycles and Adjuvant Chemotherapy on the Survival Outcomes of Patients With Locally Advanced Nasopharyngeal Carcinoma.

Objective: This study investigated whether differences in the induction chemotherapy (IC) cycle number and adjuvant chemotherapy (AC) affect survival outcomes in patients with locally advanced nasopharyngeal carcinoma (LA-NPC).

Methods: The survival outcomes of 386 consecutive LA-NPC patients treated between January 2015 and March 2018 were retrospectively analyzed. Univariate and multivariate analyses were used to compare treatment groups defined by IC< 3 or ≥3 IC cycles followed by radiotherapy with or without AC (i.

Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.

Protein tyrosine phosphatase receptor-type Q (PTPRQ), a member of the type III tyrosine phosphatase receptor (R3 PTPR) family, is composed of three domains, including 18 extracellular fibronectin type III (FN3) repeats, a transmembrane helix, and a cytoplasmic phosphotyrosine phosphatase (PTP) domain. PTPRQ was initially identified as a transcript upregulated in glomerular mesangial cells in a rat model of glomerulonephritis. Subsequently, studies found that PTPRQ has phosphotyrosine phosphatase and phosphatidylinositol phosphatase activities and can regulate cell proliferation, apoptosis, differentiation, and survival.

Early combined rehabilitation intervention to improve the short-term prognosis of premature infants.

Background: To explore the clinical effect of early combined rehabilitation intervention on premature infants in the neonatal intensive care unit (NICU).

Methods: Premature infants with gestational ages less than 32 weeks or birth weights less than 1500 g were included in the present study.The participants were divided into the intervention group and control group.