A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH), a type of overgrowth syndrome, is characterized by progressive megalencephaly, cortical brain malformations, and distal limb anomalies. Previous studies have revealed that the overactivity of the phosphatidylinositol 3-kinase-Protein kinase B pathway and the increased cyclin D2 (CCND2) expression were the main factors contributing to this disease. Here, we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole-exome sequencing and Sanger sequencing revealed a de novo nonsense mutation (NM_001759.3: c.829C>T; p.Gln277X) in the CCND2 gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH. This study not only presents a new case of MPPH and expands the mutation spectrum of CCND2 but also enhances our understanding of the mechanisms connecting CCND2 with overgrowth syndromes.

Analysis of drought and heat stress response genes in rice using co-expression network and differentially expressed gene analyses.

Studies on Oryza sativa (rice) are crucial for improving agricultural productivity and ensuring global sustenance security, especially considering the increasing drought and heat stress caused by extreme climate change. Currently, the genes and mechanisms underlying drought and heat resistance in rice are not fully understood, and the scope for enhancing the development of new strains remains considerable. To accurately identify the key genes related to drought and heat stress responses in rice, multiple datasets from the Gene Expression Omnibus (GEO) database were integrated in this study. A co-expression network was constructed using a Weighted Correlation Network Analysis (WGCNA) algorithm. We further distinguished the core network and intersected it with differentially expressed genes and multiple expression datasets for screening. Differences in gene expression levels were verified using quantitative real-time polymerase chain reaction (PCR). OsDjC53, MBF1C, BAG6, HSP23.2, and HSP21.9 were found to be associated with the heat stress response, and it is also possible that UGT83A1 and OsCPn60a1, although not directly related, are affected by drought stress. This study offers significant insights into the molecular mechanisms underlying stress responses in rice, which could promote the development of stress-tolerant rice breeds.

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.

This report presents a case of Charcot-Marie-Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot-Marie-Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C>A/p.His49Asn) of MPZ may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of MPZ, was neutral. Our study expands the variant spectrum of MPZ and the number of identified CMTDID patients, contributing to a better understanding of the relationship between MPZ and CMTDID.

Using the ABC theory of emotion to examine the relationship between health anxiety and health information-seeking behavior among the rural population.

Objective: The aim of the current study was to explore the relationship between online and offline health information-seeking behaviors, as antecedents and consequences, and health anxiety and related belief factors in rural residents. Methods: Based on the ABC theory of emotions (ABC model), this study developed two theoretical models of the association between health anxiety and health information-seeking behavior: Placing health information-seeking behavior (both online and offline) as an outcome and antecedent, respectively, and setting three belief factors of the perceived health threat, intolerance of uncertainty, and catastrophic misinterpretations. We collected 730 self-reported data points from 20 June to 5 July 2022 for rural residents in China and empirically tested the research model and hypotheses using partial least squares-based structural equation modeling. Results: The perceived health threat and intolerance of uncertainty are significant motivators of health anxiety, and health anxiety has a direct beneficial effect on both online and offline health information-seeking behaviors. Health anxiety is influenced either directly or indirectly by catastrophic misinterpretations resulting from online health information-seeking, while offline health information-seeking behavior does not contribute as strongly to health anxiety directly but mainly reinforces it through the mediating influence of catastrophic misinterpretations. Conclusions: Rural residents' health anxiety promotes their online and offline health information behaviors. And both their online and offline health information-seeking behaviors may promote health anxiety directly and through catastrophic misinterpretations. Comparing the two, online health information-seeking behaviors primarily exacerbate health anxiety through direct effects, whereas offline health information-seeking behaviors primarily affect health anxiety through catastrophic misinterpretations. We provide suggested guidelines for alleviating health anxiety and regulating health information behaviors among rural residents.

A core-scale reconstructing method for shale.

Characterization of shale cores with low and anisotropic permeability is complicated, due to the presence of multiscale pore structure and thin layers, and defies conventional methods. To accurately reproduce the morphology of multiscale pore structure of the shale core, a novel core-scale reconstructing method is proposed to reconstruct 3D digital-experimental models by means of the combination of SEM, EDS images, nitrogen adsorption and pressure pulse decay experiment result. In this method, the multiscale and multicomponent reconstructing algorithm is introduced to build the representative multiscale model for each layer, which can describe the complex 3D structures of nano organic pores, micro-nano inorganic pores, micro slits and several typical minerals. Especially, to reproduce the realistic morphology for shale, the optimization algorithm based on simulated annealing algorithm uses the experimental data as constrain conditions to adjust and optimize the model for each layer. To describe the bedding characteristics of the shale core, bedding fractures are constructed by analysis of the mineral distribution in the interface of two layers, and then the representative models for different layers are integrated together to obtain the final core-scale digital-experimental model. Finally, the model is validated by computing its morphological and flow properties and comparing them with those of the actual 3D shale sample. This method provide a way for systematically and continuously describe the multiscale and anisotropic pore structure (from nm-cm) of the shale core, and will be helpful for understanding the quality of the shale reservoir.