A case report of brainstem hemorrhage due to Rhizopus delemar-induced encephalitis diagnosed by metagenomic next-generation sequencing (mNGS).

BACKGROUND: Rhizopus delemar is an invasive fungal pathogen that can cause fatal mucormycosis in immunodeficient individuals. Encephalitis caused by R. delemar is rare and difficult to diagnose early. Clinical detection methods for R. delemar include blood fungal culture, direct microscopic examination, and histopathological examination, but the detection is often inadequate for clinical diagnosis and can easily lead to missed diagnosis with delayed treatment. CASE PRESENTATION: We report a case of a 47-year-old male with brainstem hemorrhage caused by encephalitis due to R. delemar. The patient had a history of hypertension, type 2 diabetes, and irregular medication. No pathogens were detected in cerebrospinal fluid (CSF) and nasopharyngeal secretion cultures. R. delemar was identified by metagenomic next-generation sequencing (mNGS) in CSF, and in combination with the patient's clinical characteristics, encephalitis caused by R. delemar was diagnosed. Antibiotic treatment using amphotericin B liposome in combination with posaconazole was given immediately. However, due to progressive aggravation of the patient's symptoms, he later died due to brainstem hemorrhage after giving up treatment. CONCLUSIONS: mNGS technique is a potential approach for the early diagnosis of infections, which can help clinicians provide appropriate antibiotic treatments, thus reducing the mortality and disability rate of patients.

Survival outcomes following complete mediastinal lymphadenectomy or selective mediastinal lymphadenectomy in patients with stage I-IIIA non-small cell lung cancer: protocol for a systematic review and meta-analysis.

INTRODUCTION: Lung cancer remains the largest cause of cancer-related deaths worldwide. Surgical removal of non-small cell lung cancer (NSCLC) has the potential to achieve a cure, although there is ongoing debate regarding the significance of removing mediastinal nodes and the optimal extent of lymph node excision. The purpose of this research is to assess the survival outcomes in patients diagnosed with stage I-IIIA NSCLC who received either complete mediastinal lymphadenectomy (CML) or selective mediastinal lymphadenectomy (SML). METHODS AND ANALYSIS: The protocol follows the guidelines recommended in Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols, and this meta-analysis will be conducted in accordance with the standard methodology recommended by the Cochrane Collaboration and reported in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidance. We will conduct a comprehensive search for randomised controlled trials and non-randomised studies examining the effectiveness of CML compared with SML in patients with stage I-IIIA NSCLC. Two authors will perform a comprehensive search of the MEDLINE/PubMed, Embase, the Cochrane Library, CNKI, WanFang, Sinomed, VIP and Web of Science databases. There will be no restrictions on language or publication date, and the search will be conducted on 10 April 2024, with ongoing searches for new research. Reference lists will also be checked and pertinent journals will be hand searched. The primary outcomes include overall survival (OS) and disease-free survival (DFS), while the secondary outcomes consist of 1-year, 3-year and 5-year OS rates and 1-year, 3-year and 5-year DFS rates. Two independent reviewers will screen, extract data, assess quality and evaluate the potential for bias in the selected research, with a third acting as arbitrator. Subgroup analyses and sensitivity analyses are planned. The quality of the evidence will be evaluated using Grading of Recommendations Assessment, Development and Evaluation. Review Manager V.5.4 will be used for the analysis and synthesis process. ETHICS AND DISSEMINATION: Ethical review and approval are not necessary for this study because it is based on a secondary analysis of the literature. The results will be submitted for reporting in a peer-reviewed publication. STUDY REGISTRATION: Open Science Framework (https://doi.org/10.17605/OSF.IO/PN7UQ).

An Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure.

Acute intermittent porphyria (AIP) is the most common form of acute porphyria and is characterized by acute onset and recurrent episodes. Clinical presentation frequently initiates with gastrointestinal symptoms and is often misdiagnosed or delayed secondary to nonspecific symptoms. Acute porphyria with epilepsy as the primary symptom is a very unusual or unexpected manifestation. This family case found an unexpected association between acute porphyria and seizures. This patient is a 33-year-old woman whose initial symptom was symptomatic epilepsy, followed by significant abdominal pain. After excluding infection, immunity, and other factors, whole exome sequencing analysis showed the presence of c.22dupG mutation in the HMBS gene and the patient was finally diagnosed with AIP. Her symptoms significantly improved after receiving high-glucose and high-carbohydrate load treatment. This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered in the differential diagnosis.

Clinical features of varicella-zoster virus caused neurological diseases detected by metagenomic next-generation sequencing.

Clinical presentation of central nervous system (CNS) infections caused by varicella-zoster virus (VZV) is highly sophisticated, making identification challenging. We retrospectively reported 18 cases of VZV neurologic disease confirmed by metagenomic next-generation sequencing (mNGS). The detection rate of mNGS was higher than that of PCR assay (100 vs 66.7%, p < 0.05) and serum IgM antibody (100 vs 68.8%, p < 0.05) measurement. Of the 18 cases, five patients were diagnosed with acute meningitis, three with acute meningitis combined with facial neuritis, three with acute meningitis combined with polycranial neuritis, and the remaining seven with various clinical diagnoses. Typical clinical symptoms included headache (15), fever (9), and rash (11). Cranial or spinal MRI showed abnormalities in 12 patients, and 17 patients had obvious neurological symptoms. The predominant genotype of VZV in this study was genotype J (100%, 10/10). All patients were treated with acyclovir/penciclovir and dexamethasone, 16 recovered and 2 died. Our study highlights the good performance of mNGS in diagnosing CNS infection caused by VZV. It could provide additional diagnostic evidence in patients with diverse clinical spectrum and variable manifestations.

A novel feature representation: Aggregating convolution kernels for image retrieval.

Activated hidden units in convolutional neural networks (CNNs), known as feature maps, dominate image representation, which is compact and discriminative. For ultra-large datasets, high dimensional feature maps in float format not only result in high computational complexity, but also occupy massive memory space. To this end, a new image representation by aggregating convolution kernels (ACK) is proposed, where some convolution kernels capturing certain patterns are activated. The top-n index numbers of the convolution kernels are extracted directly as image representation in discrete integer values, which rebuild relationship between convolution kernels and image. Furthermore, a distance measurement is defined from the perspective of ordered sets to calculate position-sensitive similarities between image representations. Extensive experiments conducted on Oxford Buildings, Paris, and Holidays, etc., manifest that the proposed ACK achieves competitive performance on image retrieval with much lower computational cost, outperforming the ones using feature maps for image representation.

Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing. The patient became seizure-free with a combination of valproate and lamotrigine. Functional investigation was carried out using recombinant NMDARs containing a GluN2A-N447K mutant that is located in the ligand-binding domain of the GluN2A subunit. Whole-cell current recordings in HEK 293T cells revealed that the N447K mutation increased the NMDAR current density by ~1.2-fold, enhanced the glutamate potency by 2-fold, and reduced the sensitivity to Mg2+ inhibition. These results indicated that N447K is a gain-of-function mutation. Interestingly, alternative substitutions by alanine and glutamic acid at the same residue (N447A and N447E) did not change NMDAR function, suggesting a residual dependence of this mutation in altering NMDAR function. Taken together, this study identified human GluN2A N447K as a novel mutation associated with epilepsy and validated its functional consequences in vitro. Identification of this mutation is also helpful for advancing our understanding of the role of NMDARs in epilepsy and provides new insights for precision therapeutics in epilepsy.

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

INTRODUCTION: Mutations of the PRRT2 gene are the most common cause for paroxysmal kinesigenic dyskinesia. However, patients with negative PRRT2 mutations are not rare. The aim of this study is to determine whether copy number variant of PRRT2 gene is another potential pathogenic mechanism in the patients with paroxysmal kinesigenic dyskinesia with negative PRRT2 point and frameshift mutations. METHODS: We screened PRRT2 copy number variants using the AccuCopy™ method in 29 patients with paroxysmal kinesigenic dyskinesia with negative PRRT2 point and frameshift mutations. Next-generation sequencing was used to determine the chromosomal deletion sites in patients with PRRT2 copy number variants, and to exclude mutations in other known causative genes for paroxysmal kinesigenic dyskinesia. RESULTS: Two sporadic patients with negative PRRT2 point and frameshift mutations (6.9%) were identified to have de novo PRRT2 copy number deletions (591 and 832 Kb deletions located in 16p11.2). The two patients presented with pure paroxysmal kinesigenic dyskinesia and paroxysmal kinesigenic dyskinesia and benign infantile convulsions, respectively. They had normal intelligence and neuropsychiatric development, in contrast to those previously reported with 16p11.2 deletions complicated with neuropsychiatric disorders. No correlation between the deletion ranges and phenotypic variations was found. CONCLUSION: 16p11.2 deletions play causative roles in paroxysmal kinesigenic dyskinesia, especially for sporadic cases. Our findings extend the phenotype of 16p11.2 deletions to pure paroxysmal kinesigenic dyskinesia. Screening for 16p11.2 deletions should thus be included in genetic evaluations for patients with paroxysmal kinesigenic dyskinesia.

Building information modelling review with potential applications in tunnel engineering of China.

Building information modelling (BIM) can be applied to tunnel engineering to address a number of problems, including complex structure, extensive design, long construction cycle and increased security risks. To promote the development of tunnel engineering in China, this paper combines actual cases, including the Xingu mountain tunnel and the Shigu Mountain tunnel, to systematically analyse BIM applications in tunnel engineering in China. The results indicate that BIM technology in tunnel engineering is currently mainly applied during the design stage rather than during construction and operation stages. The application of BIM technology in tunnel engineering covers many problems, such as a lack of standards, incompatibility of different software, disorganized management, complex combination with GIS (Geographic Information System), low utilization rate and poor awareness. In this study, through summary of related research results and engineering cases, suggestions are introduced and an outlook for the BIM application in tunnel engineering in China is presented, which provides guidance for design optimization, construction standards and later operation maintenance.

Prediction of Soil Deformation in Tunnelling Using Artificial Neural Networks.

In the past few decades, as a new tool for analysis of the tough geotechnical problems, artificial neural networks (ANNs) have been successfully applied to address a number of engineering problems, including deformation due to tunnelling in various types of rock mass. Unlike the classical regression methods in which a certain form for the approximation function must be presumed, ANNs do not require the complex constitutive models. Additionally, it is traced that the ANN prediction system is one of the most effective ways to predict the rock mass deformation. Furthermore, it could be envisaged that ANNs would be more feasible for the dynamic prediction of displacements in tunnelling in the future, especially if ANN models are combined with other research methods. In this paper, we summarized the state-of-the-art and future research challenges of ANNs on the tunnel deformation prediction. And the application cases as well as the improvement of ANN models were also presented. The presented ANN models can serve as a benchmark for effective prediction of the tunnel deformation with characters of nonlinearity, high parallelism, fault tolerance, learning, and generalization capability.

Experimental investigation and constitutive model for lime mudstone.

In order to investigate the mechanical properties of lime mudstone, conventional triaxial compression tests under different confining pressures (0, 5, 15 and 20 MPa) are performed on lime mudstone samples. The test results show that, from the overall perspective of variation law, the axial peak stress, axial peak strain and elastic modulus of lime mudstone tend to gradually increase with increasing confining pressure. In the range of tested confining pressure, the variations in axial peak stress and elastic modulus with confining pressure can be described with linear functions; while the variation in axial peak strain with confining pressure can be reflected with a power function. To describe the axial stress-strain behavior in failure process of lime mudstone, a new constitutive model is proposed, with the model characteristics analyzed and the parameter determination method put forward. Compared with Wang' model, only one parameter n is added to the new model. The comparison of predicted curves from the model and test data indicates that the new model can preferably simulate the strain softening property of lime mudstone and the axial stress-strain response in rock failure process.

Dynamic effect of metro-induced vibration on the rammed earth base of the Bell Tower.

Xi'an Bell Tower (the Bell Tower) is a state-level ancient relic in China. The vibration caused by metro will exert adverse effect on the Bell Tower. This paper aims at presenting 3D-FEM models to predict the peak period velocity (PPV) of rammed earth base when the metro passing through the Bell Tower. The calculation results are compared with those of field test. Both results were found to be in good agreement. Furthermore, the results indicated that the effect of shock absorption measures is significant. The shock absorption tracks can obviously decrease the vibration of the Bell Tower, and the maximum decrease of PPV of the rammed earth base is 78.91 %. The proposed prediction has the potential to be developed as a decision and management tool for the evaluation of the risk associated with the influence of vibration caused by metro on buildings in urban areas.

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.

OBJECTIVE: To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE). METHODS: Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1), solute carrier family 2, member 1 (SLC2A1), calcium-activated potassium channel alpha subunit (KCNMA1), cholinergic receptor, nicotinic, alpha 4 (CHRNA4), cholinergic receptor, nicotinic, beta 2 (CHRNB2), cholinergic receptor, nicotinic, alpha 2 (CHRNA2), and potassium channel subfamily T member 1 (KCNT1) were screened by direct sequencing. RESULTS: Two PRRT2 mutations were identified in patients with typical PHD. A mutation of c.649dupC (p.Arg217ProfsX8) was identified in a patient with PHD and his father who was diagnosed with paroxysmal kinesigenic dyskinesia. An additional mutation of c.640G>C (p.Ala214Pro) was identified in a sporadic patient and his asymptomatic mother. No mutations were found in the other screened genes. CONCLUSIONS: The present study identified PRRT2 mutations in PHD, extending the phenotypic spectrum of PRRT2 and supporting the classification of PHD as a subtype of paroxysmal dyskinesia but not NFLE. Based on the results of this study, screening for the PRRT2 mutation is recommended in patients with PHD.

Application of wireless intelligent control system for HPS lamps and LEDs combined illumination in road tunnel.

Because of the particularity of the environment in the tunnel, the rational tunnel illumination system should be developed, so as to optimize the tunnel environment. Considering the high cost of traditional tunnel illumination system with high-pressure sodium (HPS) lamps as well as the effect of a single light source on tunnel entrance, the energy-saving illumination system with HPS lamps and LEDs combined illumination in road tunnel, which could make full use of these two kinds of lamps, was proposed. The wireless intelligent control system based on HPS lamps and LEDs combined illumination and microcontrol unit (MCU) Si1000 wireless communication technology was designed. And the remote monitoring, wireless communication, and PWM dimming module of this system were designed emphatically. Intensity detector and vehicle flow detector can be configured in wireless intelligent control system, which gather the information to the master control unit, and then the information is sent to the monitoring center through the Ethernet. The control strategies are got by the monitoring center according to the calculated results, and the control unit wirelessly sends parameters to lamps, which adjust the luminance of each segment of the tunnel and realize the wireless intelligent control of combined illumination in road tunnel.