Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.

Background: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndromes (GSs) characterized by distinct facial features, pulmonary stenosis, and delayed growth. In clinical practice, differentiating these three GSs remains a challenge. Facial gestalts serve as a diagnostic tool for recognizing Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome.

Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

Unlabelled: Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis of the branches of the pulmonary artery. We aim to develop and optimize accurate models of facial recognition to assist in the diagnosis of WBS, and to evaluate their effectiveness by using both five-fold cross-validation and an external test set. We used a total of 954 images from 135 patients with WBS, 124 patients suffering from other genetic disorders, and 183 healthy children.

Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome.

Background: Noonan syndrome (NS) is a rare genetic disease, and patients who suffer from it exhibit a facial morphology that is characterized by a high forehead, hypertelorism, ptosis, inner epicanthal folds, down-slanting palpebral fissures, a highly arched palate, a round nasal tip, and posteriorly rotated ears. Facial analysis technology has recently been applied to identify many genetic syndromes (GSs). However, few studies have investigated the identification of NS based on the facial features of the subjects.

Discrepancy between arterial oxygen saturation and pulse oximetry measurement in a Chinese pediatric patient cohort.

Background: Increasing evidence suggest a racial bias in pulse oximetry measurement, but this was under investigated in Asian pediatric populations.

Methods: Via the Pediatric Intensive Care database, this retrospective study included pediatric patient records of arterial oxygen saturation (SaO) and oxygen saturation on pulse oximetry (SpO) measured within 10 min. Discrepancy was examined, and potential predictors of occult hypoxemia (defined as SaO <88% with the paired SpO ≥92%) as well as its association with outcomes were explored by logistic regression.

Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.

Background: Noonan syndrome (NS) is relatively common but poorly recognized. We aimed to describe the phenotypic and genotypic spectrum of NS in a Chinese cohort.

Method: The study retrospectively investigated consecutive pediatric patients who presented at the Guangdong cardiovascular institute between 2018 and 2020 with confirmed known NS-relevant mutations determined by exome sequencing.

Elasticity-controlled jamming criticality in soft composite solids.

Soft composite solids are made of inclusions dispersed within soft matrices. They are ubiquitous in nature and form the basis of many biological tissues. In the field of materials science, synthetic soft composites are promising candidates for building various engineering devices due to their highly programmable features.

Uncertainty-based saltwater intrusion prediction using integrated Bayesian machine learning modeling (IBMLM) in a deep aquifer.

Data-driven machine learning approaches are promising to substitute physically based groundwater numerical models and capture input-output relationships for reducing computational burden. But the performance and reliability are strongly influenced by different sources of uncertainty. Conventional researches generally rely on a stand-alone machine learning surrogate approach and fail to account for errors in model outputs resulting from structural deficiencies.

RNF144A promotes antiviral responses by modulating STING ubiquitination.

Stimulator of interferon (IFN) genes (STING, also named MITA, ERIS, MPYS, or TMEM173) plays an essential role in DNA virus- or cytosolic DNA-triggered innate immune responses. Here, we demonstrate that the RING-in-between RING (RBR) E3 ubiquitin ligase family member RING-finger protein (RNF) 144A interacts with STING and promotes its K6-linked ubiquitination at K236, thereby enhancing STING translocation from the ER to the Golgi and downstream signaling pathways. The K236R mutant of STING displays reduced activity in promoting innate immune signal transduction.

Lactobacillus plantarum E2 regulates intestinal microbiota and alleviates Pseudomonas plecoglossicida induced inflammation and apoptosis in zebrafish (Danio rerio).

Pseudomonas plecoglossicida infection is a highly contagious epidemic in aquaculture, causing significant mortality among teleost. Our previous research has demonstrated that Lactobacillus plantarum E2 is beneficial for large yellow croaker in resisting infections caused by P. plecoglossicida.

Cause Analysis and Preventive Measures for Sand Production in Gas Wells of Sulige Gas Field.

Sand production from gas wells has a significant impact on the production of gas wells. This review aims to reveal the reasons for fracturing sand backflow in Sulige Gas Field gas wells and provide targeted preventive measures to prevent fracturing sand backflow. The critical parameters of sand production in gas wells were calculated through theoretical models, and the reasons and mechanisms of fracturing sand backflow in Sulige gas wells were analyzed from three major aspects: production factors, reservoir factors, and process factors.

Sirt1 Negatively Regulates Cellular Antiviral Responses by Preventing the Cytoplasmic Translocation of Interferon-Inducible Protein 16 in Human Cells.

Interferon-inducible protein 16 (IFI16) plays a critical role in antiviral innate immune responses against DNA viruses. Although the acetylation of IFI16 is crucial to its cytoplasmic translocation and downstream signal transduction, the regulation of IFI16 acetylation remains unclear. In this study, we demonstrated that the NAD-dependent deacetylase silent information regulatory 1 (Sirtuin1, Sirt1) interacted with IFI16 and decreased the acetylation of IFI16, resulting in the inhibition of IFI16 cytoplasmic localization and antiviral responses against DNA virus and viral DNA in human cells.

TRIM7/RNF90 promotes autophagy via regulation of ATG7 ubiquitination during infection.

is a widely used infection model for the research on pathogenesis and host defense against gram-positive intracellular bacteria. Emerging evidence indicates that posttranslational modifications play a critical role in the regulation of macroautophagy/autophagy. However, little is known about the posttranslational modifications of ATG7, the essential protein in the autophagy process.

Structures, thermodynamics and dynamics of topological defects in Gay-Berne nematic liquid crystals.

Topological defects are a ubiquitous phenomenon across different physical systems. A better understanding of defects can be helpful in elucidating the physical behaviors of many real materials systems. In nematic liquid crystals, defects exhibit unique optical signatures and can segregate impurities, showing their promise as molecular carriers and nano-reactors.

Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study.

Introduction: Bloodstream infection (BSI) may occur after cardiac procedures, but this has rarely been investigated specifically in pediatric patients after percutaneous or surgical treatment for ventricular septal defect (VSD) or atrial septal defect (ASD) with recent data. The current study aimed to investigate the incidence, clinical features, and association with prognosis of BSI in this patient population.

Methods: Pediatric patients who received percutaneous or surgical procedure for VSD or ASD between 2010 and 2018 in a large children's hospital in China were retrospectively enrolled via the Pediatric Intensive Care database, but only those who had blood culture records within 24 h after the procedure and who had no prior positive blood culture records were included.

Efficacy and Mechanisms of Oleuropein in Postmenopausal Osteoporosis.

Background: Postmenopausal osteoporosis (PMOP) has a supernal morbidity rate in elderly females.

Objective: To appraise the effects of oleuropein on bone densitometry, bone metabolic index, oxidative stress, and inflammatory index in PMOP. In addition, the mechanism of olive bittersweet preventing bone loss was explored.

Negative Regulation of RNF90 on RNA Virus-Triggered Antiviral Immune Responses Targeting MAVS.

The antiviral innate immunity is the first line of host defense against viral infection. Mitochondrial antiviral signaling protein (MAVS, also named Cardif/IPS-1/VISA) is a critical protein in RNA virus-induced antiviral signaling pathways. Our previous research suggested that E3 ubiquitin-protein ligases RING-finger protein (RNF90) negatively regulate cellular antiviral responses by targeting STING for degradation, though its role in RNA virus infection remains unknown.

Impact of contrast-induced acute kidney injury on the association between renin-angiotensin system inhibitors and long-term mortality in heart failure patients.

Introduction: Renin-angiotensin system inhibitors (RASi) reduce mortality among heart failure (HF) patients, but their effect among those complicating contrast-induced acute kidney injury (CI-AKI) remains unexplored. We aimed to investigate whether the relationship between RASi prescription at discharge and mortality differs between HF patients with or without CI-AKI following coronary angiography (CAG).

Methods: About 596 HF patients from an observational cohort were divided into a CI-AKI group ( = 104) and a non-CI-AKI group ( = 492) based on whether they had CI-AKI following CAG.

Population attributable risk estimates of risk factors for contrast-induced acute kidney injury following coronary angiography: a cohort study.

Background: Contrast-induced acute kidney injury (CI-AKI) is a common complication with poor outcomes following coronary angiography (CAG) or percutaneous coronary intervention (PCI). However, no study has explored the population attributable risks (PARs) of the CI-AKI risk factors. Therefore, we aimed to identify the independent risk factors of CI-AKI and estimate their PARs.

Pro-survival and anti-inflammatory roles of NF-κB c-Rel in the Parkinson's disease models.

The pathological hallmarks of Parkinson's disease (PD) are the progressive loss of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNpc) and the presence of overactivated glial cells and neuroinflammation. Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) c-Rel subunit is closely related in the pathological progress of PD, however the roles and mechanisms of c-Rel in PD development remain unclear. Here, in neurotoxins-induced PD models, the dynamic changes of NF-κB c-Rel and its functions were evaluated.

Small interfering RNA targeting of peroxiredoxinⅡ gene enhances formaldehyde-induced toxicity in bone marrow cells isolated from BALB/c mice.

Backgrouds: Formaldehyde (FA) is an important chemicals that can induce sick house syndrome and may be an incentive of childhood leukemia, however the exact mechanism is unclear. Oxidative stress may be an underlying reason of cancer occurring, while diverse antioxidants can protect the bone marrow cells (BMCs) from damaged. PeroxiredoxinⅡ (PrxⅡ) is an important member of the peroxiredoxin family, can remove reactive oxygen species (ROS), and is closely related with the occurrence of tumor.

Formaldehyde induces the apoptosis of BMCs of BALB/c mice via the PTEN/PI3K/Akt signal transduction pathway.

The International Agency for Research on Cancer has classified formaldehyde (FA) as a leukemogen to humans in 2012; however, the underlying mechanism remains unclear. Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor‑suppressor gene and can negatively regulate the phosphoinositide 3‑kinase (PI3K)/protein kinase B (Akt) signal transduction pathway, which is associated with cell proliferation, apoptosis and carcinogenesis. To determine the association between FA and the PTEN/PI3K/Akt signal transduction pathway, flow cytometry, reverse transcription‑quantitative polymerase chain reaction, western blotting and immunohistochemical analysis were conducted.

Long-term Changes in the Nigrostriatal Pathway in the MPTP Mouse Model of Parkinson's Disease.

Parkinson's disease (PD) is a common and progressive neurodegenerative disorder. The 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse model of PD is widely used to study the progression of this disease. Behavior impairment is closely related to the damage of the dopaminergic system in the basal ganglia.

Dynamic Changes in the Nigrostriatal Pathway in the MPTP Mouse Model of Parkinson's Disease.

The characteristic brain pathology and motor and nonmotor symptoms of Parkinson's disease (PD) are well established. However, the details regarding the causes of the disease and its course are much less clear. Animal models have significantly enriched our current understanding of the progression of this disease.

Infection and integration of high-risk human papillomavirus in HPV-associated cancer cells.

High-risk human papillomaviruses (HPV) have been associated with many human cancers in clinical studies. Integration of HPV into the human genome is a suspected etiological factor in the induction of some HPV-associated cancers. The characteristics of HPV integration in certain HPV-integrated cancer cells remain unclear.

Risk factors associated with unplanned endotracheal self-extubation of hospitalized intubated patients: a 3-year retrospective case-control study.

This 3-year retrospective case-control study aimed to identify risk factors associated with unplanned endotracheal self-extubation (UESE) of hospitalized intubated patients and to compare unplanned and planned extubation groups' characteristics of patients and nurses, vital signs, serum laboratory values, Glasgow Coma Scale scores, Acute Physiology and Chronic Health Evaluation II (APACHE II) scores, and use of physical restraints and sedatives. The study found that most UESEs occurred during evening or night shifts or during shifts staffed by nurses with less experience and less education. Most of the self-extubated patients (80%) were physically restrained.