Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

Microsphere probe: combining microsphere-assisted microscopy with AFM.

In recent years, microsphere-assisted microscopy (MAM) and atomic force microscope (AFM) have been rapidly developed to meet the measurement needs of microstructures. However, the positioning of microspheres, the inability of AFM to touch the underlying sample through the transparent insulating layer, and the challenge of AFM fast positioning limit their use in practical measurements. In this paper, we propose a method that combines MAM with AFM by adhering the microsphere to the cantilever. This method allows MAM and AFM to work in parallel, and their imaging positions can correspond with each other. We use this method to measure memory devices, and the results show that MAM and AFM yield complementary advantages. This approach provides a new tool for analyzing complex structures in devices and has potential for wide application.

Ammonia reduction by the gdhA and glnA genes from bacteria in laying hens.

Ammonia emissions are a high-focus pollution issue in the livestock industry. Ammonia-degrading bacteria can assimilate ammonia nitrogen as a nitrogen source to promote their growth and reproduction, providing an environmentally friendly, low-cost and safe biological way to reduce ammonia emissions from livestock. However, it remains unclear how ammonia-degrading bacteria reduce ammonia emissions from animals and what are the key ammonia assimilation genes. In the present study, two strains with ammonia nitrogen-degrading abilities (Enterococcus faecium strain C2 and Bacillus coagulans strain B1) were screened from laying chicken caecal and faecal samples and reduced ammonia emission rates by 53.60% and 31.38%, respectively. The expression levels of the ammonia assimilation genes gdhA, glnA, and GMPS increased significantly. On this basis, we successfully constructed three clone strains (PET-GDH, PET-GS, and PET-GMPS) that expressed the gdhA, glnA and GMPS genes in E. coli, respectively, to verify their ammonia-reducing activities. The results of an in vitro fermentation study showed that the ammonia production of the PET-GDH and PET-GS groups was significantly lower than that of the empty vector group (p < 0.05), with ammonia emission reduction rates of 55.5% and 54.8%, respectively. However, there was no difference between the PET-GMPS and empty vector groups. These results indicate that gdhA and glnA may be key genes involved in the bacterial-mediated regulation of ammonia emissions by laying hens, and ammonia emissions may be reduced by regulating their expression. The results of the present study provide a theoretical basis for the construction of engineered bacteria to reduce ammonia production in animals.

Stability Analysis of Delayed Recurrent Neural Networks via a Quadratic Matrix Convex Combination Approach.

This brief addresses the stability analysis problem of a class of delayed recurrent neural networks (DRNNs). In previously published studies, the slope information of activation function (SIAF) is just reflected in three slope information matrices, i.e., the upper and lower boundary matrices and the maximum norm matrix. In practice, there are 2n possible combination cases on the slope information matrices. To exploit more information about SIAF, first, an activation function separation method is proposed to derive n slope-information-based uncertainties (SIBUs) containing SIAF; second, a quadratic matrix convex combination approach is proposed to dispose n SIBUs using 2n combination slope information matrices. Third, a stability criterion with less conservatism is established based on the proposed approach. Finally, two simulation examples are used to testify the validity of theoretical results.

The abundance and diversity of antibiotic resistance genes in layer chicken ceca is associated with farm enviroment.

Industrialized layer chicken feedlots harbor complex environmental microbial communities that affect the enrichment and exchange of gut bacteria and antibiotic resistance genes (ARGs). However, the contribution of different environmental sources to the gut ARGs of layer chickens is not clear. Here, layer chicken gut and environmental samples (air, water, feed, cage, feather, maternal hen feces, uropygial glands) were collected during the early 3 month period before the laying of eggs, and the source and characteristics of the gut microorganisms and ARGs were analyzed by performing 16S rRNA and metagenomic sequencing. The results showed that the abundances of Bacteroidetes and Actinobacteria in cecum of layer chickens gradually increased, while that of Proteobacteria decreased with age, and the number and relative abundance of ARGs decreased significantly with age. On day 5, 57% of the layer chicken cecal ARGs were from feather samples, and 30% were from cage samples. Subsequently, the contribution of cage ARGs became progressively more prominent over time. At days 30 and 57, the contribution of cage ARGs to the chick cecal ARGs reached 63.3 and 69.5%, respectively. The bacterial community composition (especially the abundances of Klebsiella pneumoniae and Escherichia coli) was the major factor impacting the ARG profile. K. pneumoniae and E. coli were mainly transmitted from feathers to the layer chicken cecum, and the contribution rates were 32 and 3.4%, respectively. In addition, we observed the transmission of ARG-carrying bacteria (Bacteroides fragilis) from the cage to the gut, with a contribution rate of 11.5%. It is noteworthy that B. fragilis is an opportunistic pathogen that may cause diarrhea in laying hens. These results can provide reference data for the healthy breeding of layer chickens and the prevention and control of ARG pollution.

Frontal-occipital network alterations while viewing 2D & 3D movies: a source-level EEG and graph theory approach.

Many researchers have measured the differences in electroencephalography (EEG) while viewing 2D and 3D movies to uncover the neuromechanism underlying distinct viewing experiences. Using whole-brain network analyses of scalp EEG, our previous study reported that beta and gamma bands presented higher global efficiencies while viewing 3D movies. However, scalp EEG is influenced by volume conduction, not allowing inference from a neuroanatomy perspective; thus, source reconstruction techniques are recommended. This paper is the first to measure the differences in the frontal-occipital networks in EEG source space during 2D and 3D movie viewing. EEG recordings from 40 subjects were performed during 2D and 3D movie viewing. We constructed frontal-occipital networks of alpha, beta, and gamma bands in EEG source space and analyzed network efficiencies. We found that the beta band exhibited higher global efficiency in 3D movie viewing than in 2D movie viewing; however, the alpha global efficiency was not statistically significant. In addition, a support vector machine (SVM) classifier, taking functional connectivities as classification features, was built to identify whether the frontal-occipital networks contain patterns that could distinguish 2D and 3D movie viewing. Using the 6 most important functional connectivity features of the beta band, we obtained the best accuracy of 0.933. Our findings shed light on uncovering the neuromechanism underlying distinct experiences while viewing 2D and 3D movies.

Electrophysiological evidence of impaired cognitive reappraisal in amnestic mild cognitive impairment: An event-related potential study.

BACKGROUND: Emotion dysregulation symptoms are associated with higher conversion rates from MCI to dementia. Thus, understanding the neural mechanism underlying emotion regulation in people with MCI could provide useful information in early detection and intervention of MCI. This study investigated cognitive reappraisal, an emotion regulation strategy, in people with MCI using event-related potentials analysis. METHODS: Late positive potential (LPP) was measured in 46 amnestic MCI subjects and 47 healthy elderly controls (HECs) as they viewed neutral and unpleasant images. All participants viewed a brief description of the upcoming image; neutral images were neutrally described (the Neut condition), and negative images were preceded with either more neutral (the Rea condition) or more negative (the Neg condition) interpretations. RESULTS: MCI subjects reduced their emotional intensity to a smaller extent than HEC subjects. For MCI subjects, the decreased level of emotional intensity was positively correlated with function in the verbal and executive domains. The reduced intensity (Rea - Neg) was also inversely correlated with the LPP difference (Rea - Neg) 3600-5000 ms after stimulus onset. Compared with HEC subjects, MCI subjects showed hypoactivation in the cuneus in the N2 time range (240-310 ms) and in the inferior parietal lobule and supramarginal gyrus in the 3600-5000 ms range. CONCLUSION: These results suggest that MCI subjects failed to maintain the reappraisal of negative stimuli in the late time window, which contributed to a smaller success with reappraisal.

Thin head atomic force microscope for integration with optical microscope.

We present a novel thin head atomic force microscope (AFM) that can be easily integrated with an upright optical microscope (OM). The optical beam detection unit in the AFM used an obliquely incident laser beam onto the cantilever, reducing the AFM head's effective thickness to 7.3 mm. That allows an open space above the cantilever probe to accommodate the objective lens up to 0.6 numerical aperture (N.A.) without obstruction. A multi-function digital controller was developed to control the AFM and reserved interfaces to communicate with the OM. To assess the performance of the developed AFM, we first measured the noise level and bandwidths of the AFM system. Then, the imaging quality of the AFM was evaluated by both calibration grids and two-dimensional materials. Finally, the thin head AFM was integrated into a homemade white light interferometer as a demonstration of combined use with an advanced optical system. The experimental results demonstrated that our developed AFM is suitable for integration under upright OM and brings AFM high-resolution advantages to the existing OM system.

The Effectiveness Comparison of Different Acupuncture-Related Therapies on Knee Osteoarthritis: A Meta-Analysis.

Objective: This meta-analysis aims to assess the efficacy of acupuncture-related therapy on knee osteoarthritis (KOA) patients. Method: We searched PubMed, Embase, and CNKI databases to screen eligible trials between 2017 and 2022. All trials that used acupuncture/moxibustion of KOA patients were included. Study selection and data extraction were performed by 2 researchers independently. The statistics was performed by using R 4.1.1. Results: A total of 17 trials were included in our meta-analysis. Meta-analysis results showed the evidence of the relation of several common acupunture/moxibustion treatments by network meta-analysis. In the fixed effect model, acupuncture/moxibustion has superior therapy efficacy than sham treatment (mean difference = -0.34, 95% confidence interval = (-0.52,-0.16), P=0.95). In fixed effect model, specific acupuncture/moxibustion has superior therapy efficacy than usual acupuncture/moxibustion (mean difference = -0.45, 95% confidence interval = (-0.62, -0.29), P < 0.01). Conclusion: Acupuncture/moxibustion has superior therapy efficacy than sham treatment. Specific acupuncture/moxibustion has superior therapy efficacy than usual acupuncture/moxibustion.

Insight into the impacts and mechanisms of ketone stress on the antibiotic resistance in Escherichia coli.

Accumulation of toxic organic has posed a substantial pressure on the proliferation of bacterial resistance. While aromatic organics have been demonstrated to enhance the antibiotic resistance in bacteria, no information is yet available on the effects of non-aromatic organics on the variations of bacterial resistance. Here, we investigated the effects of a typical ketone (i.e., methylisobutanone (MIBK)) on the variations of antibiotic resistance in Escherichia coli (E. coli). The results showed that the growth of resistant E. coli under environmental concentration of 50 µg/L MIBK was firstly inhibited as explained by the transient disruption in the cell membrane and then recovered possibly due to the reactive oxygen species. Exposure to 50 µg/L MIBK gradually raised the abundance of representative resistance gene (ampR) in E. coli. In contrast, the high concentration of 50 mg/L MIBK continuously inhibited the growth of resistant E. coli by disrupting cell membrane and notably promoted the proliferation of ampR through enhancing the horizontal transformation and up-regulating the expression of efflux pump gene. These findings provided the first evidence for the evolution of bacterial resistance in response to ketone organics.

Dysfunction of Emotion Regulation in Mild Cognitive Impairment Individuals Combined With Depressive Disorder: A Neural Mechanism Study.

Depression increases the risk of progression from mild cognitive impairment (MCI) to dementia, where impaired emotion regulation is a core symptom of depression. However, the neural mechanisms underlying the decreased emotion regulation in individuals with MCI combined with depressive symptoms are not precise. We assessed the behavioral performance by emotion regulation tasks and recorded event-related electroencephalography (EEG) signals related to emotion regulation tasks simultaneously. EEG analysis, including event-related potential (ERP), event-related spectral perturbation (ERSP), functional connectivity and graph theory, was used to compare the difference between MCI individuals and MCI depressed individuals in behavioral performance, the late positive potential (LPP) amplitudes, neural oscillations and brain networks during the processing of emotional stimuli. We found that MCI depressed individuals have negative preferences and are prone to allocate more attentional resources to negative stimuli. Results suggested that theta and alpha oscillations activity is increased, and gamma oscillations activity is decreased during negative stimulus processing in MCI depressed individuals, thus indicating that the decreased emotion regulation in MCI depressed individuals may be associated with enhanced low-frequency and decreased high-frequency oscillations activity. Functional connectivity analysis revealed a decrease in functional connectivity in the left cerebral hemisphere of the alpha band and an increase in functional connectivity in the right cerebral hemisphere of the alpha band in MCI depressed individuals. Graph theory analysis suggested that global network metrics, including clustering coefficients and disassortative, decreased, while nodal and modular network metrics regarding local nodal efficiency, degree centrality, and betweenness centrality were significantly increased in the frontal lobe and decreased in the parieto-occipital lobe, which was observed in the alpha band, further suggesting that abnormal alpha band network connectivity may be a potential marker of depressive symptoms. Correlational analyses showed that depressive symptoms were closely related to emotion regulation, power oscillations and functional connectivity. In conclusion, the dominant processing of negative stimuli, the increased low-frequency oscillations activity and decreased high-frequency activity, so as the decrease in top-down information processing in the frontal parieto-occipital lobe, results in the abnormality of alpha-band network connectivity. It is suggested that these factors, in turn, contribute to the declined ability of MCI depressed individuals in emotion regulation.

Electrophysiological Studies of Cognitive Reappraisal Success and Failure in aMCI.

BACKGROUND: Although successful reappraisal relies on cognitive resources, how cognitive impairment affects brain processes related to cognitive reappraisal is not yet clear. METHODS: Forty-four amnestic mild cognitive impairment (aMCI) subjects and 72 healthy elderly controls (HECs) were divided into the MCI-Failure (n = 23), MCI-Success (n = 21), HEC-Failure (n = 26), and HEC-Success (n = 46) groups according to changes in self-reported affect using reappraisal. All participants viewed 30 negative and 30 neutral images preceded by straightforward descriptions of these images and 30 negative images preceded by more neutral descriptions. RESULTS: Reappraisal failure was found to be more common in people with MCI. Reappraisal failure is associated with altered neurophysiological indices of negative-reappraisal stimuli processing that are reflected in smaller theta responsivity to negative-reappraisal stimuli between 350-550 ms. The MCI-Success group showed enhanced LPP for negative-reappraisal stimuli from 1200 to 3500 ms, reflecting compensatory effort to complete the reappraisal task, while subjects in other groups showed reduced LPP for negative-reappraisal stimuli from 550 to 1200 ms. CONCLUSIONS: These findings deepen our understanding of how cognitive decline impacts reappraisal and informs early diagnosis and interventions for MCI.

[Distribution and Removal of Antibiotic-Resistant Bacteria and Antibiotic Resistance Genes in Petrochemical Wastewater Treatment Plants].

A petrochemical wastewater treatment plant (PWWTP) was selected to investigate the distribution and removal of antibiotic-resistant bacteria (ARB) and three forms of antibiotic resistance genes (ARGs), namely intracellular ARGs (iARGs), adsorbed-extracellular ARGs (aeARGs), and free extracellular ARGs (feARGs). Tetracycline, sulfanilamide, and ampicillin ARB were detected with the total absolute concentration of 8.45×102-2.38×105 CFU·mL-1; the absolute concentrations of three types of ARB decreased by 0.04 lg-0.21 lg through anaerobic treatment. The effect of aeration and precipitation treatment on ARB varies with its type, and the absolute concentration of ARB in effluent was 0.12 lg-0.63 lg higher than that in influent. The absolute abundance of aeARGs and iARGs in activated sludge was 1.96×107-3.02×1010 copies·g-1 and 5.22×107-4.15×1010 copies·g-1, respectively; the absolute abundance of feARGs in wastewater was 5.90×108-1.01×1012 copies·L-1. Anaerobic treatment can remove 0.13 lg-0.65 lg aeARGs and 0.04 lg-0.28 lg iARGs, while the removal efficiency of aeARGs and iARGs by aeration and precipitation process was affected by ARGs types and forms. The absolute abundance of feARGs in effluent is 0.06 lg-0.81 lg higher than that in influent. Redundancy analysis showed that the concentration of ARB was significantly positively correlated with chemical oxygen demand (COD), Cl-, and total nitrogen concentration (P<0.05). The abundance of aeARGs was positively correlated with COD and total nitrogen concentration (P<0.05), and both the abundance of iARGs and feARGs are positively correlated with heavy metals concentration (P<0.05). This study confirmed the enrichment risk of ARB and different forms of ARGs in PWWTPs, which provided references for the research and prevention of antibiotic resistance pollution in industrial wastewater.

Microbial Diversity and Community Variation in the Intestines of Layer Chickens.

The intestinal microbiota is increasingly recognized as an important component of host health, metabolism and immunity. Early gut colonizers are pivotal in the establishment of microbial community structures affecting the health and growth performance of chickens. White Lohmann layer is a common commercial breed. Therefore, this breed was selected to study the pattern of changes of microbiota with age. In this study, the duodenum, caecum and colorectum contents of white Lohmann layer chickens from same environment control farm were collected and analyzed using 16S rRNA sequencing to explore the spatial and temporal variations in intestinal microbiota. The results showed that the diversity of the microbial community structure in the duodenum, caecum and colorectum increased with age and tended to be stable when the layer chickens reached 50 days of age and the distinct succession patterns of the intestinal microbiota between the duodenum and large intestine (caecum and colorectum). On day 0, the diversity of microbes in the duodenum was higher than that in the caecum and colorectum, but the compositions of intestinal microbes were relatively similar, with facultative anaerobic Proteobacteria as the main microbes. However, the relative abundance of facultative anaerobic bacteria (Escherichia) gradually decreased and was replaced by anaerobic bacteria (Bacteroides and Ruminococcaceae). By day 50, the structure of intestinal microbes had gradually become stable, and Lactobacillus was the dominant bacteria in the duodenum (41.1%). The compositions of dominant microbes in the caecum and colorectum were more complex, but there were certain similarities. Bacteroides, Odoribacter and Clostridiales vadin BB60 group were dominant. The results of this study provide evidence that time and spatial factors are important factors affecting the intestinal microbiota composition. This study provides new knowledge of the intestinal microbiota colonization pattern of layer chickens in early life to improve the intestinal health of layer chickens.

Functional Brain Networks in Mild Cognitive Impairment Based on Resting Electroencephalography Signals.

The oscillatory patterns of electroencephalography (EEG), during resting states, are informative and helpful in understanding the functional states of brain network and their contribution to behavioral performances. The aim of this study is to characterize the functional brain network alterations in patients with amnestic mild cognitive impairment (aMCI). To this end, rsEEG signals were recorded before and after a cognitive task. Functional connectivity metrics were calculated using debiased weighted phase lag index (DWPLI). Topological features of the functional connectivity network were analyzed using both the classical graph approach and minimum spanning tree (MST) algorithm. Subsequently, the network and connectivity values together with Mini-Mental State Examination cognitive test were used as features to classify the participants. Results showed that: (1) across the pre-task condition, in the theta band, the aMCI group had a significantly lower global mean DWPLI than the control group; the functional connectivity patterns were different in the left hemisphere between two groups; the aMCI group showed significantly higher average clustering coefficient and the remarkably lower global efficiency than the control. (2) Analysis of graph measures under post-task resting state, unveiled that for the percentage change of post-task vs. pre-task in beta EEG, a significant increase in tree hierarchy was observed in aMCI group (2.41%) than in normal control (-3.89%); (3) Furthermore, the classification analysis of combined measures of functional connectivity, brain topology, and MMSE test showed improved accuracy compared to the single method, for which the connectivity patterns and graph metrics were used as separate inputs. The classification accuracy obtained for the case of post-task resting state was 87.2%, while the one achieved under pre-task resting state was found to be 77.7%. Therefore, the functional network alterations in aMCI patients were more prominent during the post-task resting state. This study suggests that the disintegration observed in MCI functional network during the resting states, preceding and following a task, might be possible biomarkers of cognitive dysfunction in aMCI patients.

Classification of Mild Cognitive Impairment from multi-domain features of resting-state EEG.

In recent years, electroencephalography (EEG) has emerged as a low-cost, accessible and objective tools for the early diagnosis of Alzheimer's disease (AD). AD is preceded by Mild Cognitive Impairment (MCI), typically refers to early-stage AD disease. The purpose of this study is to classify MCI patients from the multi-domain features of their electroencephalography (EEG). Firstly, we extracted the multi-domain (time, frequency and information theory) features from resting-state EEG signals before and after a cognitive task from 15 MCI groups and 15 age-matched healthy controls. Then, principal component analysis (PCA) was used to perform feature selection. After that, we compared the performance between SVM and KNN on our EEG dataset. The good performance was observed both from SVM and KNN, which demonstrates the effectiveness of multi-domain features. Furthermore, KNN performs better than SVM and the EEG signals after the cognitive task works better than those before the task.

N,N-dimethylformamide-induced acute hepatic failure: A case report and literature review.

N,N-dimethylformamide (DMF) is a major solvent predominantly used in the chemical industry. The main toxic effects following exposure to DMF are gastric irritation, skin eruption and hepatotoxicity. However, hepatic failure induced by DMF is rare. In this report, we present a case of acute hepatic failure following exposure to a toxic dose of DMF via respiratory tract inhalation and skin absorption with detailed abdominal computed tomography scan, sequential laboratory data and polymorphisms. The patient recovered satisfactorily following artificial liver support therapy and pharmacological agents to protect the liver in addition to plasma, blood platelet and albumin transfusions. In view of the high mortality rate and rare occurrence rate of acute hepatic failure, the clinical characteristics, polymorphisms and therapeutic strategy of DMF poisoning are discussed.

Detection of thrombin using electrogenerated chemiluminescence based on Ru(bpy)3(2+)-doped silica nanoparticle aptasensor via target protein-induced strand displacement.

A sensitive and selective aptasensor using tri(2,2'-bipyridyl)ruthenium(II)-doped silica nanoparticles (Ru(bpy)3(2+)-doped SNPs) as DNA tags for detection of thrombin is developed based on the target protein-induced strand displacement of the DNA probe. For the proposed aptasensor, the aptamer was assembled on the surface of the Au electrode through Au-S binding. The hybridization event between the DNA probe labeled by the Ru(bpy)3(2+)-doped SNPs and the aptamer was evaluated by electrogenerated chemiluminescence (ECL) measurements. Then, the DNA probe was displaced by thrombin and the binding event between the thrombin and the aptamer was monitored by ECL measurements again. The difference of ECL intensity (deltaI(ECL)) of the two events could be used to quantify the thrombin. Other proteins, such as bovine serum albumin and bovine hemoglobin, had almost negligible deltaI(ECL). Under the optimal conditions, the deltaI(ECL) was linearly related to the concentration of the thrombin in the range of 10 fM to 10 pM and the detection limit was down to 1.0 fM since SNPs containing a large number of Ru(bpy)3(2+) molecules were labeled on the DNA probe.