Infantile epileptic spasms syndrome: a cohort study of 88 children.

BACKGROUND: This study aimed to investigate and analyze the risk factors for non-etiology-specific infantile spasms (IS) and unrelieved clinical symptoms after treatment. METHODS: Eighty-eight children with IS who were treated at our hospital from March 2018 to December 2021 were included in the study. The children were divided into etiology-specific (n = 46) and nonetiology-specific (n = 42) groups, based on the diagnostic results, and remission (n = 45) and nonremission (n = 43) groups, based on clinical outcomes after treatment. The clinical data from patients in the etiology-specific and nonetiology-specific groups and the remission and nonremission groups were compared. Risk factors for non-etiology-specific IS were identified using logistic regression analysis. RESULTS: Gender, family history, birth status, and metabolic abnormalities were significantly different between the etiology-specific and non-etiology-specific groups. Gender and metabolic abnormalities were risk factors for nonetiology-specific IS. Family history, birth status, metabolic abnormalities, and brain magnetic resonance imaging were significantly different between the remission and nonremission groups, and different etiologies were risk factors for unrelieved symptoms after treatment. CONCLUSION: The occurrence of nonetiology-specific IS is associated with gender and metabolic abnormalities in children. After medication, unrelieved IS symptoms are associated with etiologies.

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.

Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors are important causes of IESS. The SETD1A (SET Domain Containing 1A) gene encodes a histone lysine methyltransferase that activates gene transcription through histone H3 lysine K4 methylation. Mutations in the SETD1A gene have been associated with schizophrenia, and some have been reported to cause seizures. Herein, we report a case of IESS caused by a SETD1A gene mutation. Video electroencephalography showed hypsarrhythmia. No specific findings were obtained after brain MRI and metabolic work-up. The seizures disappeared after treatment with adrenocorticotropic hormone, vitamin B6, and valproic acid during hospitalization. Genetic testing revealed that the child had a variant (NM_014712.3:c.3005_3,006 delAG, p.Glu1002Glyfs*20) in exon 12 of the SETD1A gene, representing a de novo mutation. There have been no previous reports on the SETD1A gene causing infantile spasms. We also summarize the existing literature on SETD1A gene-related epilepsy to provide a reference for clinical diagnosis and treatment.

Establishment and characterization of a skeletal myoblast cell line of grass carp (Ctenopharyngodon idellus).

Skeletal muscle myoblastic cell lines can provide a valuable new in vitro model for the exploration of the mechanisms that control skeletal muscle development and its associated molecular regulation. In this study, the skeletal muscle tissues of grass carp were digested with trypsin and collagenase I to obtain the primary myoblast cell culture. Myoblast cells were obtained by differential adherence purification and further analyzed by cryopreservation and resuscitation, chromosome analysis, immunohistochemistry, and immunofluorescence. A continuous grass carp myoblast cell line (named CIM) was established from grass carp (Ctenopharyngodon idellus) muscle and has been subcultured > 100 passages in a year and more. The CIM cells revived at 79.78-95.06% viability after 1-6 months of cryopreservation, and shared a population doubling time of 27.24 h. The number of modal chromosomes of CIM cells was 48, and the mitochondrial 12S rRNA sequence of the CIM cell line shared 99% identity with those of grass carp registered in GenBank. No microorganisms (bacteria, fungi, or mycoplasma) were detected during the whole study. The cell type of CIM cells was proven to be myoblast by immunohistochemistry of specific myogenic protein markers, including CD34, desmin, MyoD, and MyHC, as well as relative expression of key genes. And the myogenic rate and fusion index of this cell line after 10 days of induced differentiation were 8.96 ~ 9.42% and 3-24%, respectively. The telomerase activity and transfection efficiency of CIM cell line were 0.027 IU/mgprot and 23 ~ 24%, respectively. These results suggest that a myoblast cell line named CIM with normal biological function has been successfully established, which may provide a valuable tool for related in vitro studies.

First-principles, machine learning and symbolic regression modelling for organic molecule adsorption on two-dimensional CaO surface.

Data-driven methods are receiving significant attention in recent years for chemical and materials researches; however, more works should be done to leverage the new paradigm to model and analyze the adsorption of the organic molecules on low-dimensional surfaces beyond using the traditional simulation methods. In this manuscript, we employ machine learning and symbolic regression method coupled with DFT calculations to investigate the adsorption of atmospheric organic molecules on a low-dimensional metal oxide mineral system. The starting dataset consisting of the atomic structures of the organic/metal oxide interfaces are obtained via the density functional theory (DFT) calculation and different machine learning algorithms are compared, with the random forest algorithm achieving high accuracies for the target output. The feature ranking step identifies that the polarizability and bond type of the organic adsorbates are the key descriptors for the adsorption energy output. In addition, the symbolic regression coupled with genetic programming automatically identifies a series of hybrid new descriptors displaying improved relevance with the target output, suggesting the viability of symbolic regression to complement the traditional machine learning techniques for the descriptor design and fast modeling purposes. This manuscript provides a framework for effectively modeling and analyzing the adsorption of the organic molecules on low-dimensional surfaces via comprehensive data-driven approaches.

Myelin Oligodendrocyte Glycoprotein (MOG) antibody-associated meningoencephalitis due to Mycoplasma pneumoniae infection.

Although myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorders include a wide spectrum of syndromes, manifestations with meningoencephalitis symptoms due to M. pneumoniae infection were quite infrequent. We admitted an 8-years-old girl who presented with recurrent fever accompanied by headache and mild cough, her Cerebral spinal fluid polynucleated cells was elevated and progressively higher, her cranial MRI showed meningeal enhancement initially and multiple intracranial lesions later, serum M. pneumoniae-IgM and MOG-IgG were positive, she was diagnosed with MOG-IgG associated meningoencephalitis due to M. pneumoniae infection, the treatment consisted of intravenous immunoglobulin, glucocorticoid, and erythromycin, then she was completely recovered.

Designing Two-Dimensional Halide Perovskites Based on High-Throughput Calculations and Machine Learning.

The interactions between ions and the low-dimensional halide perovskites are critical to realizing the next-generation energy storage devices such as photorechargeable ion batteries and ion capacitors. In this study, we performed high-throughput calculations and machine-learning analysis for ion adsorption on two-dimensional A2BX4 halide perovskites. The first-principles calculations obtained an initial data set containing adsorption energies of 640 compositionally engineered ion/perovskite systems with diverse ions including Li+, Zn2+, K+, Na+, Al3+, Ca2+, Mg2+, and F-. The machine learning algorithms including k-nearest neighbors (KNN), Kriging, Random Forest, Rpart, SVM, and Xgboost algorithms were compared, and the Xgboost algorithm achieved the best accuracy (r = 0.97, R2 = 0.93) and was selected to predict the virtual design space consisting of 11 976 ion/perovskite systems. The features were then analyzed and ranked according to their Pearson correlations to the output values. In particular, to better understand the features, diverse feature selection methods were employed to comprehensively evaluate the features. The machine-learning-predicted virtual design space was subsequently screened to select stable lead-free ion/perovskite systems with suitable band gaps and halogen mixing features. The present study provides a theoretical foundation to design halide perovskite materials for ion-based energy storage applications such as secondary ion batteries, ion capacitors, and solar-rechargeable batteries.

Regulating Interfacial Ion Migration via Wool Keratin Mediated Biogel Electrolyte toward Robust Flexible Zn-Ion Batteries.

Aqueous Zn-ion batteries (ZIBs) have emerged as a promising energy supply for next-generation wearable electronics, yet they are still impeded by the notorious growth of zinc dendrite and uncontrollable side reaction. While the rational design of electrolyte composition or separator decoration can effectively restrain zinc dendrite growth, synchronously regulating the interfacial electrochemical performance by tackling the physical delamination venture between electrode and electrolyte remains a major obstacle for high-performance wearable aqueous ZIB. Herein, a category of hybrid biogel electrolyte containing carrageenan and wool keratin (CWK) is put forward to regulate the interfacial electrochemistry in aqueous ZIB. Systematic electrochemical kinetics analyses and ex situ scanning electrochemical microscopy (SECM) characterizations achieve comprehensive understanding of the keratin enhanced interfacial Zn2+ redox reaction. Thanks to the keratin triggered selective ion permeability, the as-designed CWK hybrid biogel electrolyte manifests a promoted Zn2+ transference number and excellent reversibility of Zn plating/stripping and outstanding Zn utilization (average Coulombic efficiency ≈98%). More impressively, the CWK hybrid biogel electrolyte also demonstrates cathode side-reaction depression and strengthened interfacial adhesion while assembled into a quasi-solid-state flexible ZIB. This work offers a strategy to synchronously solve concurrent challenges for both of Zn anode and cathode toward realistic wearable aqueous ZIB.

Absence seizures during sleep in childhood absence epilepsy: A sign of drug resistance?

BACKGROUND: Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome. It is characterized by typical absence seizures and a highly recognizable electroencephalography (EEG) pattern. But little is known about absence seizures during sleep. CASE REPORT: A 7-year-old female presented with frequent typical absence seizures with 3 Hz generalized spike and wave discharges on EEG. Based on electro-clinical features she was diagnosed with CAE. When she was 8 years old, absence seizures occurred during sleep. She had refractory absence seizures even with valproic acid, lamotrigine, levetiracetam, and perampanel. CONCLUSION: Absence seizures can occur during sleep in CAE. Absence seizures should be considered, especially when 3 Hz generalized spike and wave discharges last >2 s on EEG during sleep. It may be a sign of drug resistance and poor prognosis.

Facial nerve palsy may indicate coronary artery lesions in Kawasaki disease.

OBJECTIVES: Facial nerve palsy (FNP) is extremely rare in Kawasaki disease (KD) and the incidence is just 0.9-1.3%. Our objective was to study the clinical features and prognosis of KD accompanied with FNP and to determine whether FNP indicated an increased risk of coronary artery lesions (CALs) in KD. METHODS: An observational study was performed on 9 patients diagnosed as KD accompanied with FNP in Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China between September 2012 and December 2019. Patients were followed up from September 2012 till September 2020. Clinical features, laboratory and echocardiography findings, treatments, and prognosis were analyzed retrospectively. And the clinical data of patients with FNP (group A, n = 9) were compared to matched KD patients without FNP (group B, n = 27) in order to determine whether FNP indicated an increased risk of CALs in KD. The matching factors included sex, age, days of illness at the intravenous immunoglobulin use, and classic/incomplete KD forms. RESULTS: Clinical data of 9 patients were analyzed in this study. Patients tended to be younger than 24 months of age (88.9%) and 55.6% were under 12 months. Median onset of FNP was day 10 of illness. Eight patients (88.9%) showed unilateral FNP. The levels of laboratory inflammatory markers (White blood cells count, neutrophil percentage, C-reactive protein, erythrocyte sedimentation rate, etc.) were significantly increased in most cases. CALs were noted in 8 of 9 patients (88.9%). Coronary artery aneurysms occurred in 4 cases (44.4%) and the remaining 4 patients showed coronary artery dilation. All patients were given intravenous immunoglobulin therapy (2 g/kg), aspirin (30-50 mg/kg/day), and short-term dexamethasone. During follow-up, both FNP and CALs were completely recovered in all patients. The duration time of FNP ranged from 10 to 130 days. And the time for CALs to normal ranged from 12 to 282 days. The occurrence of CALs was significantly higher in patients with FNP than those without FNP (88.9% vs. 25.9%, P < 0.05). CONCLUSIONS: KD accompanied with FNP is rare but may indicate an increased risk of CALs. Clinicians should take KD into consideration when children suffer from long-term fever with FNP, even with incomplete diagnostic features. With a long-term follow-up, both FNP and CALs have a good prognosis. KEY POINTS: • Facial nerve palsy may indicate an increased risk of coronary artery lesions in Kawasaki disease. • Clinicians should take Kawasaki disease into consideration when children suffer from long-term fever with facial nerve palsy, even with incomplete diagnostic features. • Facial nerve palsy and coronary artery lesions have a good prognosis in a long-term follow-up.

S100a8 silencing attenuates inflammation, oxidative stress and apoptosis in BV2 cells induced by oxygen­glucose deprivation and reoxygenation by upregulating GAB1 expression.

S100a8 serves an important role in cell differentiation and is abnormally expressed in common tumors, but there are few studies on the association between S100a8 and brain I/R injury. The present study aimed to investigate the role of S100a8 in oxygen­glucose deprivation and reoxygenation (OGD/R)­induced BV2 microglia cell injury, and to elucidate the potential underlying molecular mechanisms. BV2 cells were exposed to OGD/R to mimic ischemia/reperfusion (I/R) injury in vitro. S100a8 expression was detected via reverse transcription­quantitative PCR and western blot analyses. Following transfection with short hairpin RNAs targeting S100a8, the levels of inflammatory cytokines and oxidative stress­related factors were determined using commercial kits. Apoptosis was assessed using flow cytometric analysis and the expression levels of apoptosis­related proteins were determined using western blot analysis. Subsequently, the mRNA and protein levels of Grb2­associated binder 1 (GAB1) were assessed following S100a8 silencing. Immunoprecipitation (IP) was performed to verify the association between S100a8 and GAB1. The levels of inflammation, oxidative stress and apoptosis were assessed following GAB1 silencing, along with S100a8 silencing in BV2 cells subjected to OGD/R. The results indicated that exposure to OGD/R markedly upregulated S100a8 expression in BV2 cells. S100a8 silencing inhibited inflammation, oxidative stress and apoptosis, accompanied by changes in the expression of related proteins. The IP assay revealed a strong interaction between GAB1 and S100a8. In addition, GAB1 silencing reversed the inhibitory effects of S100a8 silencing on inflammation, oxidative stress and apoptosis in OGD/R­stimulated BV2 cells. Taken together, the results of the present study demonstrated that S100a8 silencing alleviated inflammation, oxidative stress and the apoptosis of BV2 cells induced by OGD/R, partly by upregulating the expression of GAB1. Thus, these findings may potentially provide a novel direction to develop therapeutic strategies for cerebral I/R injury.

Spontaneous remission of infantile spasms following rotavirus gastroenteritis.

Epileptic seizures might be provoked and/or exacerbated by fever or viral infection in children with epilepsy. However, this is not true for infantile spasms; in this study, we report three cases with infantile spasms became seizure free within 2-5 days following rotavirus gastroenteritis without an exchange or addition of antiepileptic drugs, and hypsarrhythmia evolved to diffuse slow waves or localized spikes on electroencephalography. We propose that the probability regarding the mechanism of spontaneous mitigation is the suppression of immunopathological processes caused by infection, while the possibility of ketogenic effects of diarrhea and intestinal flora recombination after rotavirus gastroenteritis is unlikely. Further study may provide important information concerning the mechanism of seizure control and the applicability to treatment for infantile spasms.

Clinical and electroencephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China.

PURPOSE: This study was conducted to analyze the clinical and electroencephalographic (EEG) features of attention-deficit hyperactivity disorder (ADHD) in children with benign partial epilepsy with centrotemporal spikes (BECTS) in Southwest China, to address the question of what the risk factors are for patients with BECTS who suffer from ADHD. METHODS: Overall 118 right-handed children with BECTS were included from two medical centers. Of them, 29 patients were with diagnosed ADHD according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) at baseline, and the remaining were considered as typical BECTS. Clinical and EEG characteristics were collected at baseline and follow-up endpoint of one year. All the patients completed an eight-hour video-electroencephalogram (VEEG) without sedation at those two time points using a digital system with international 10-20 array electrode placement. At the follow-up endpoint, we also evaluated the intelligence level of all patients using the Wechsler Intelligence Scale for Children-IV (WISC-IV). Multivariate logistical regression model was performed to assess the risk factors of ADHD in BECTS patients. RESULTS: Compared with typical BECTS, patients with BECTS-ADHD had an earlier age of onset, a longer disease course and tended to have lower intelligence quotient (IQ) scores. Their epileptiform discharges were more likely to diffuse to one or both hemispheres, and a higher percentage of patients with BECTS-ADHD patients needed multitherapy to control seizures. Multivariate analysis showed that age of onset, disease course, intelligence score, number of antiepileptic drugs (AEDs), and bilateral or diffusing discharges were independently associated with the occurrence of ADHD in patients with BECTS (p < .05). Additionally, we found that delayed diagnosis (37.3%) and nonadherence to treatment (16.1%) were the main reasons of a long disease course. CONCLUSION: Benign partial epilepsy with centrotemporal spikes with ADHD has the characteristics of early age of onset, long course of disease and low intelligence score. In addition, the epileptiform discharges of BECTS-ADHD were prone to be bilateral or diffuse, and polypharmacological treatment is also common in this group.