Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.

Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.

Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.

Upper airway changes after orthognathic surgery in patients with skeletal class III high-angle malocclusion and mandibular deviation.

Objectives: This study analyzed the differences in the upper airway of patients with skeletal Class III high-angle malocclusion with and without mandibular deviation, and further investigated whether there are differences in the changes in upper airway space after orthognathic surgery between the two groups.

Materials And Methods: 15 patients with skeletal Class III high-angle malocclusion and mandibular deviation, and 15 patients without mandibular deviation were selected to explore the impact of mandibular deviation on the upper airway. Additionally, 16 patients with mandibular deviation undergoing orthodontic-orthognathic combined treatment, and 13 patients without mandibular deviation, were selected to investigate the differences in the changes in upper airway space after orthognathic surgery between the two groups.

Gaseous Synergistic Self-Assembly and Arraying to Develop Bio-Organic Photocapacitors for Neural Photostimulation.

Bioinspired supramolecular architectonics is attracting increasing interest due to their flexible organization and multifunctionality. However, state-of-the-art bioinspired architectonics generally take place in solvent-based circumstance, thus leading to achieving precise control over the self-assembly remains challenging. Moreover, the intrinsic difficulty of ordering the bio-organic self-assemblies into stable large-scale arrays in the liquid environment for engineering devices severely restricts their extensive applications.

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new variants.

We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.

Collagen deposition in lung parenchyma driven by depletion of interstitial Lyve-1 macrophages prevents cigarette smoke-induced emphysema and loss of airway function.

Introduction: Collagen is essential for maintaining lung structure and function and its remodeling has been associated with respiratory diseases including chronic obstructive pulmonary disease (COPD). However, the cellular mechanisms driving collagen remodeling and the functional implications of this process in the pathophysiology of pulmonary diseases remain poorly understood.

Methods: To address this question, we employed ; mice with specific depletion of Lyve-1 macrophages and assessed the content, types and organization of collagen in lung compartments at steady state and after chronic exposure to cigarette smoke (CS).

[Clinical characteristics and long-term follow-up study of basal ganglia infarction after minor head trauma in infants and young children].

Objectives: To investigate the clinical characteristics and prognosis of infants and young children with basal ganglia infarction after minor head trauma (BGIMHT).

Methods: A retrospective analysis was conducted on the clinical data and follow-up results of children aged 28 days to 3 years with BGIMHT who were hospitalized at Children's Hospital of Soochow University from January 2011 to January 2022.

Results: A total of 45 cases of BGIMHT were included, with the most common symptom being limb movement disorders (96%, 43/45), followed by facioplegia (56%, 25/45).

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Peripheral artery disease, antithrombotic treatment and outcomes in European and Asian patients with atrial fibrillation: analysis from two prospective observational registries.

Background: In patients with atrial fibrillation (AF), the impact of peripheral artery disease (PAD) on oral anticoagulant (OAC) therapy use and the risk of outcomes remains unclear.

Objective: To analyse the epidemiology of PAD in a large cohort of European and Asian AF patients, and the impact on treatment patterns and risks of adverse outcomes.

Methods: We analysed AF patients from two large prospective observational registries.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

Atrial cardiomyopathy: An entity of emerging interest in the clinical setting.

Since 1995, the concept of atrial cardiomyopathy (ACM) has been associated with myocardial fibrosis. Despite a consensus document in 2016, ACM's definition primarily relies on histopathological findings. The focus on diagnostic criteria for ACM is driven by the potential link to thromboembolic events even independently on atrial fibrillation (AF).

Two α-SiO-Related Deep-Ultraviolet Phase-Matchable Optical Nonlinear Beryllium Silicate Crystals NaBeSiO and LiBeSiO with Enhanced SHG Effect.

Deep-UV, (wavelength λ < 200 nm) nonlinear-optical (NLO) silicate crystals have long been troubled by weak second-harmonic-generation (SHG) effect and common non-phase-matchability, leading to the stagnation of silicate research, despite abundant reserves of silicates on the earth. Representative and simple α-SiO is an ideal structural prototype toward improving silicate NLO performance by exploring efficient strategies. Herein, through two-step structural modulations based on fundamental "distortion and superposition" principles of NLO response, two deep-UV NLO crystals taking α-SiO as a structural template, NaBeSiO and LiBeSiO, are synthesized successively.

Efficacy of the ABC Pathway for Integrated Care Across Phenotypes of Patients with Atrial Fibrillation: A Latent-Class Analysis Report from the mAFA-II Clinical Trial.

Background: The mAFA-II cluster randomised trial demonstrated the efficacy of a mobile health-technology implemented 'Atrial fibrillation Better Care' (ABC) pathway (mAFA intervention) for integrated care management of patients with AF.

Objective: To evaluate the effect of mAFA intervention across phenotypes of patients with AF.

Design: We conducted a latent-class analysis (LCA) according to eight variables, including age and comorbidities.

Facile Synthesis and Characterization of Fluorescent Polystyrene Nanospheres for Homogeneous Light-Initiated Chemiluminescence Immunoassay.

Homogeneous light-initiated chemiluminescence technology (LICA) is widely used in clinical diagnostics due to the advantages of high sensitivity, minimal reagent usage, and no need for washing. Luminescent microspheres receive singlet oxygen emitted by photosensitive microspheres to generate optical signals. Therefore,O-initiated luminescent nanospheres are crucial, but there are few reports on the preparation of O-initiated luminescent nanospheres.

Resting natural killer cells promote the progress of colon cancer liver metastasis by elevating tumor-derived stem cell factor.

The abundance and biological contribution of natural killer (NK) cells in cancer are controversial. Here, we aim to uncover clinical relevance and cellular roles of NK cells in colon cancer liver metastasis (CCLM). Here, we integrated single-cell RNA-sequencing, spatial transcriptomics (ST), and bulk RNA-sequencing datasets to investigate NK cells' biological properties and functions in the microenvironment of primary and liver metastatic tumors.

Prognostic Value of CD14 Expression in Peripheral Blood Mononuclear Cell Membrane in Patients with Severe COPD Complicated with Pulmonary Infection.

Background: Severe chronic obstructive pulmonary disease (COPD) patients with pulmonary infections face higher morbidity and mortality.

Objective: To investigate mononuclear cell membrane CD14 as a prognostic marker for their outcome.

Methods: A total of 311 participants were included: 122 in the coinfection group, 127 in the severe COPD group, and 62 in the control group.

Comprehensive physicochemical indicators analysis and quality evaluation model construction for the post-harvest ripening rapeseeds.

Rapeseed (Brassica napus L.) is the second largest globally cultivated oil crop, but the effects of post-harvested ripening on rapeseed quality is unclear and unpredictable. This study reveals the relationship between post-harvest ripening periods (PHR) and physicochemical quality of different rapeseed cultivars using comprehensive physicochemical indicators analysis.