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The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (NaPathogenic ATP1A3 variants play an essential role in the pathogenesis of Sodium-Potassium pump disorders, and AHC is the most common phenotype. The treatment strategies and prognosis depend on the phenotype categories caused by different variation sites and types. The correlation between the genotype and phenotype requires further exploration.• Pathogenic heterozygous ATP1A3 variants cause a spectrum of neurological phenotypes, and ATP1A3-disorders are viewed as a phenotypic continuum presenting with atypical and overlapping features. • The genotype-phenotype correlation of ATP1A3-disorders remains unclear.• In this study, the genotypes and phenotypes of ATP1A3-related disorders from Southwest of China were described. The splice-site variation c.2542+1GT was detected for the first time in ATP1A3-related disorders. • The prognosis of twins with AHC p. Gly947Arg was more serious than AHC cases with other variants, which was inconsistent with previous reports. The phenomenon indicated the diversity of the correlation between the genotype and phenotype.

Viral encephalitis is an important trigger for anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. We analyzed the clinical characteristics of anti-NMDAR encephalitis after Japanese encephalitis (JE) in children.Clinical data of 185 children with anti-NMDAR encephalitis were retrospectively reviewed. Patients with a history of viral encephalitis other than JE or who were identified with other autoantibodies were excluded.Twenty children with anti-NMDAR encephalitis after JE were enrolled with a median age of 6 years and 10 months (interquartile range [IQR]: 3 years to 11 years and 5 months). The median time from JE to anti-NMDAR encephalitis was 29 (IQR: 25 to 32) days. At 12 months, most patients (17 of 18) recovered to at least their baseline modified Rankin scale (mRS) scores caused by JE. One hundred forty two children with classical anti-NMDAR encephalitis were enrolled. Compared with classical anti-NMDAR encephalitis, patients after JE had significantly more decreased level of consciousness (50% vs 18.3%, P = 0.003), more autonomic dysfunction (30.0% vs 9.9%, P = 0.021), fewer psychiatric or behavioral symptoms (70.0% vs 90.8%, P = 0.016), fewer seizures (25.0% vs 68.3%, P 0.001), lesser improvement 4 weeks after immunotherapy (35.0% vs 73.2%, P = 0.001), and worse outcomes at 12 months (median mRS: 1 vs 0, P 0.001).Anti-NMDAR encephalitis after JE in children mainly occurred within two months. Their clinical manifestation may differ from classical anti-NMDAR encephalitis. The prognosis of children with anti-NMDAR encephalitis after JE probably depends on the neurological sequelae after JE.

Background: Platycodon grandiflorus (Jacq.) A. DC is a famous traditional Chinese medicine in China and an authentic medicine in Inner Mongolia. It has been traditionally used as an expectorant in cough because of its role in clearing lung heat. As a homologous plant of medicine and food, P. grandiflorus is widely planted in Northeast China. Soil salinity is a limiting factor for its cultivation. In this study, we comprehensively described the physiological characteristics of P. grandiflorus and combined transcriptomics and metabolomics to study the response of roots of P. grandiflorus to salt stress. Results: Overall, 8,988 differentially expressed genes were activated and significantly altered the metabolic processes. In total, 428 differentially abundant metabolites were affected by salt stress. After moderate and severe salt stress, most of the differentially abundant metabolites were enriched in the L-phenylalanine metabolic pathway. Through the comprehensive analysis of the interaction between key genes and metabolites, the main pathways such as lignin compound biosynthesis and triterpene saponin biosynthesis were completed. The relative content of compounds related to lignin biosynthesis, such as caffeic acid, coniferin, and syringing, increased under salt stress, and the related genes such as PAL, C4H, and the key enzyme gene UGT72E2 were activated to adapt to the salt stress. Platycodon saponin is one of the major triterpene saponins in P. grandiflorus, and Platycodin D is its most abundant major bioactive component. Under severe salt stress, Platycodin D level increased by nearly 1.77-fold compared with the control group. Most of the genes involved in synthetic pathway of Platycodin D, such as HMGCR, GGPS, SE, and LUP, were upregulated under salt stress. Conclusion: Salt stress led to a decrease in the biomass and affected the activities of antioxidant enzymes and contents of osmotic regulators in the plant. These results provided not only novel insights into the underlying mechanisms of response of P. grandiflorus to salt stress but also a foundation for future studies on the function of genes related to salt tolerance in the triterpenoid saponin biosynthesis pathway.

Objective The overall prognosis of benign convulsions associated with mild gastroenteritis (CwG) is favorable, and the incidence of afebrile seizure recurrence with or without gastroenteritis (ASwGI and ASwoGI, respectively) is low. In this study we investigated the prognostic factors associated with afebrile seizure (AS) relapse after the first CwG episode. Methods A hospital-based cohort with an initial CwG episode from January 2012 to October 2019 was followed for at least 19 months. The relapse types were divided into ASwGI and ASwoGI. Logistic regression analysis was performed to identify the independent prognostic factors for the recurrence of AS after the initial CwG episode. Furthermore, the clinical characteristics between ASwGI and ASwoGI were compared. Results Among the 868 patients enrolled, 67 (7.7%) experienced a second AS and 71% (48/67) showed gastroenteritis-associated recurrence. Except for five patients with subsequent epilepsy (0.6%), only eight (0.9%) experienced three seizure episodes. The independent predictive factors for the subsequent recurrence of AS were age less than 18 months at onset (odds ratio [OR]: 2.93, 95% confidence interval [CI]: 1.53-5.63), repeated seizures over 24 h (OR: 4.09, 95% CI: 2.19-7.65), and absence of fever (OR: 2.33, 95% CI: 1.26-4.33) during the first CwG episode. The probability of recurrence of AS for those with one, two, and three predictive factors was 3.23%, 13.35%, and 22.85%, respectively. In addition, the age at onset was significantly lower in the ASwoGI group than in the ASwGI group during the first episode (p Significance The risk of AS relapse after the initial CwG episode is low, and the majority of patients presented with gastroenteritis. The risk can be predicted by age at onset, repeated seizures over 24 h, and absence of fever during the first CwG episode.

Cyperus esculentus is cultivated as a crop plant due to its edible and oily tubers (tiger nut). However, little is known about the phytochemicals and bioeffects of the leaves. This study was conducted to identify and quantify the chemical constituents of C. esculentus leaves and evaluate their bioactivities. By liquid chromatography-mass spectrometry, 30 compounds including flavan-3-ols, caffeic acid derivatives, and flavones, were identified from the leaves. The quantitative analysis revealed that gallocatechin (8), procyanidin B1 (15), catechin (16), chlorogenic acid (19), orientin (30), and luteolin 7-O-glucuronide (31) are the major chemical constituents of C. esculentus leaves. The contents of these six chemical constituents in the leaves collected in September in Hohhot, China, reached to 1460.85±7.66, 10178.77±302.65, 1048.35±17.37, 1722.15±26.13, 5318.62±277.16, and 1526.54±11.95 μg, respectively, in one gram of the dried leaves. The leaf extract (CELE) showed strong antioxidant activity in vitro, with compounds 8, 15, and 19 contributing the most. CELE showed significant protection against the agricultural fungicide tebuconazole-induced developmental toxicity and hepatotoxicity in zebrafish.

Background Stroke in children easily causes long-term dysfunction. Whether the prognoses of motor and anxiety disorders are related to the affected stroke area has not been reported. Methods One hundred nine cases of children with ischaemic stroke were reviewed and divided into three groups: lenticular nucleus lesions only (lenticular nucleus group), lenticular nucleus and caudate head lesions (caudate head group), and lenticular nucleus and thalamus lesions (thalamus group). Overall prognosis was evaluated by the mRS score. The SCAS-P was used to evaluate anxiety in children aged ≥6 years. Results mRS scores were ≤ 2 points (mean: 0.62), no significant difference among groups. 3/21 (14.2%) patients in the caudate head group changed handedness, which is significantly higher than other groups. Patients with lesions in thalamus group had significantly higher SCAS-P scores. Conclusions The overall prognosis of children with basal ganglia ischaemic stroke is good. However, hand preference changes and anxiety disorders may develop. Patients in the caudate head groups are more likely to suffer from fine motor disorders and changes in handedness. Patients within the thalamus group are more prone to anxiety than patients in the other groups. Anxiety disorders should be noted in children with basal ganglia stroke.

Objectives A hospital-based prospective study was performed to determine: 1) whether Japanese encephalitis (JE) normally triggers anti-N-methyl- d -aspartate receptor (NMDAR) immunoglobulin G (IgG) synthesis, especially in monophasic JE patients; and 2) the incidence of JE-induced anti-NMDAR encephalitis in pediatric patients with JE. Methods We detected the level of anti-NMDAR IgG in the serum and cerebral spinal fluid (CSF) of JE patients within one week of onset. If patients relapsed during the convalescence phase, we detected JE virus RNA in the CSF and anti-NMDAR IgG in both the serum and CSF. For patients who did not relapse during the convalescence phase, serum was collected and anti-NMDAR IgG was detected during the 30–60-day course of the disease. Results We enrolled 65 JE patients, who were negative for anti-NMDAR IgG in the serum and CSF during the acute phase, of which 63 patients were successfully followed up. Five patients relapsed during the convalescence phase, for whom JE virus RNA in the CSF was negative and excluded latent JE reactivation. The distinctive symptoms of four younger patients were choreoathetosis, whereas the psychiatric and behavioral manifestations were the distinctive symptoms experienced by the teenager. Anti-NMDAR IgG in the CSF of three patients was positive and they were diagnosed with anti-NMDAR encephalitis. The other two patients were negative for anti-NMDAR IgG in both the serum and CSF. For the 58 patients who did not relapse during the convalescence phase, anti-NMDAR IgG was negative in the serum of all patients at 30–60 days during the course of the disease. Conclusions JE does not typically trigger anti-NMDAR IgG synthesis. Besides anti-NMDAR IgG, other unknown autoantibodies can also cause autoimmune encephalitis in the convalescence phase of JE. The incidence of JE-induced autoimmune encephalitis in pediatric patients with JE was 7.9%, and the incidence of JE-induced anti-NMDAR encephalitis was 4.7%.

Infantile spasm-like paroxysms are often difficult to classify as epileptic or non-epileptic. We aimed to study spontaneously relieved (non-epileptic) spasms of infancy in sleep. Elucidation of the electroclinical characteristics and differential diagnoses of such spasms could facilitate accurate diagnosis in the future.We retrospectively analyzed the clinical data, video-EEG recordings, and other laboratory test results of patients with spontaneously relieved spasms of infancy during sleep. All the enrolled patients were followed up for at least 5 months.Seven infants were included in this study. The median age at spasm onset was 0.5 months (range: 0.1-2 months). The episodes were characterized by clusters of non-epileptic spasms of the head, trunk, or extremities lasting approximately 0.5-2 s, and were validated by ictal electromyography (EMG)/video EEG. Episodes occurred several times daily in clusters, particularly during sleep; two patients also experienced episodes while awake. Additionally, non-epileptic jerks were recorded in 3 patients. All non-epileptic spasms were completely resolved 2 weeks to 3 months after onset. Moreover, neuropsychomotor development in all patients was normal at the last follow-up (5 to 12 months).Spontaneously relieved spasms of infancy in sleep is a self-limiting movement disorder characterized by onset between 0.1 and 2 months of age, and by clusters of spasms occurring in sleep. Correct differential diagnosis relies on familiar clinical and electrophysiological features.

Background Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) encephalitis is a rare autoimmune synaptic encephalitis associated with autoantibodies that cause a selective decrease in surface expression and changes in receptor localization. Anti-AMPAR encephalitis is poorly recognized, especially in children, and its clinical phenotype is incompletely described. Case presentation We report a case of anti-AMPAR GluR1 antibody-mediated autoimmune encephalitis in a 12-year-old male. The patient manifested as a fulminant course, with ataxia, cerebellar degeneration at the onset, and rapidly evolved into hyperthermia, coma and rhabdomyolysis. Antibodies against AMPAR GluR1 receptors were detected in the cerebrospinal fluid by cell-based assay. Diffuse slow waves were found by electroencephalograph, and the left cerebellar vermis and hemisphere were affected on brain magnetic resonance imaging (MRI). The patient was treated with intravenous immunoglobulin (IVIG), methylprednisolone combined with plasma exchange. Symptoms were alleviated after immunotherapy and the patient sustained clinical improvement. This is the first time that acute rhabdomyolysis symptom has been identified in a pediatric patient with anti-AMPAR encephalitis. Conclusions This case expands the clinical spectrum of anti-AMPAR encephalitis and highlights that despite poor clinical manifestation at the outset, recovery remains possible.

To confirm whether encephalitis due to unknown causes but with normal brain magnetic resonance imaging (MRI) may be associated with the myelin oligodendrocyte glycoprotein (MOG) antibody.We retrospectively analyzed and summarized the characteristics of three patients initially suspected of having intracranial infections with normal brain MRI, and ultimately tested positive for anti-MOG antibody.The three patients mainly presented with long-term fever accompanied by headaches and drowsiness. Auxiliary examinations showed obvious leukocytosis in peripheral blood and leukocytosis and increased protein expression in cerebrospinal fluid (CSF); furthermore, brain MRI was normal. These findings suggested intracranial infection, especially bacterial meningitis. No patient showed a response to prolonged anti-bacterial therapy; however, they recovered with glucocorticoid therapy, which was prescribed after anti-MOG antibodies were detected in the serum and CSF samples.Anti-MOG antibody detection should be performed early for patients with suspected encephalitis due to unknown causes with normal brain MRI, to identify whether they have MOG antibody-associated diseases (MOGAD).

Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence.Methods: A multicenter, retrospective study was conducted on pediatric patients diagnosed with anti-NMDAR encephalitis between November 2011 and December 2018. The clinical records including clinical manifestations, immunotherapy strategies, and outcomes were collected and analyzed.Results: A total of 386 patients were included in our study and the median onset age was 8.00 (IQR 4.83–10.90) years. All patients received first-line immunotherapy and the majority (341, 88.3%) used the standard combination of methylprednisolone pulses (MEP) and intravenous immunoglobulins (IVIG), but 211 patients did not show satisfactory improvement (mRS ≥ 3). Mainly three treatment strategies were applied after first-line immunotherapy: second-line immunotherapy, repetitive first-line immunotherapy, and maintaining oral prednisolone. For patients with mRS ≥ 4 after first-line immunotherapy, the incidence of poor outcome (mRS ≥ 3) in oral prednisolone group was higher than that in other treatment groups (p = 0.039). No difference in complete recovery rate (mRS = 0) was found between patients receiving second-line and repetitive first-line immunotherapy, or patients using long-term and short-term prednisolone. Out of 149 patients who received anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab) test, 27 (18.12%) were positive. Patients with concomitantly positive MOG-Ab showed milder conditions compared to patients with typical anti-NMDAR encephalitis and were more inclined to relapses. We also identified female, MOG-Ab positive, and not receiving second-line and/or repetitive first-line immunotherapy were risk factors for relapses.Conclusions: For patients with mRS ≥ 4 after first-line immunotherapy and patients with concomitantly positive MOG-Ab, second-line immunotherapy is recommended. When second-line immunotherapy is not applicable, repetitive first-line immunotherapy can be considered as an option. Both second-line and repetitive first-line immunotherapy are beneficial to reduce relapse rate. The duration of sequential oral prednisolone can be shortened after fully evaluating patients' conditions.

BackgroundAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered and termed more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence. To help move this forward, we investigated the current status of immunotherapies for pediatric anti-NMDAR encephalitis in 6 tertiary medical centers across China and evaluated how different immunotherapy strategies affected patient outcomes.MethodsA multicenter, retrospective study was conducted on pediatric patients diagnosed with anti-NMDAR encephalitis between November 2011 and December 2018. The clinical records including clinical manifestations, immunotherapy strategies, and outcomes were collected and analyzed. Treatment response and outcome were evaluated using mRS. Outcomes among the treatment groups were analyzed with the Chi-squared test or Fisher’s exact test. p < 0.05 was considered significant.ResultsA total of 386 patients were included in our study and the median onset age was 7.89 (range 0.5-18) years. All patients received first-line immunotherapy and the majority (341, 88.3%) used the standard combination of methylprednisolone pulses and intravenous immunoglobulins, but 211 patients did not show satisfactory improvement (mRS ≥ 3). Mainly three treatment strategies were applied after first-line immunotherapy: second-line immunotherapy, repetitive first-line immunotherapy, and maintaining oral prednisolone. For patients with mRS ≥ 4 after first-line immunotherapy, the incidence of poor outcome (mRS ≥ 3) in oral prednisolone group was higher than that in other treatment groups (0.025 < p < 0.05). No difference in complete recovery rate (mRS = 0) was found between patients receiving second-line and repetitive first-line immunotherapy, or patients using long-term and short-term prednisolone. The relapse rate of oral prednisolone group was higher than that of other treatment groups (p < 0.01), but the relapse rate of patients using long-term and short-term prednisolone had no statistical difference. ConclusionsFor patients with mRS ≥ 4 after first-line immunotherapy, second-line immunotherapy is recommended. When second-line immunotherapy is not applicable, repetitive first-line immunotherapy can be considered as an option. Both second-line and repetitive first-line immunotherapy are beneficial to reduce relapse rate. The duration of sequential oral prednisolone can be shortened after fully evaluating patients’ conditions.

Background Dissociative (conversion) disorder in children is a complex biopsychosocial disorder with high rates of medical and psychiatric comorbidities. We sought to identify the characteristics and outcomes of children with dissociative (conversion) disorders in western China. Methods We conducted a retrospective cohort study of 66 children admitted with dissociative (conversion) disorders from January 2017 to July 2019, and analyzed their clinical characteristics, socio-cultural environmental variables, and personality and psychiatric/psychological characteristics. Binary logistic regression was used to analyze the variables associated with clinical efficacy. Results Of these 66 patients, 38 (57.6%) were male and 28 (42.4%) were female, 46 (69.7%) had an antecedent stressor, 30 (45.5%) were left-behind adolescents, and 16 (24.2%) were from single-parent families. In addition, 30 patients (45.5%) were not close to their parents, 38 patients (59.4%) had an introverted personality, and 34 (53.1%) had unstable emotions. Thirteen families (19.7%) were uncooperative with the treatment. Patients who had cormorbid anxiety or depression exhibited significantly lower cognitive ability (P Conclusions The characteristics and outcomes of children with dissociative (conversion) disorders are related to socio-cultural environmental variables and psychiatric/psychological factors. Timely recognition and effective treatment of dissociative (conversion) disorders are important.

Objective: To analyze the positive and recurrence rates of different autoantibody-associated demyelination disorders in children in Southwest China, and describe the clinical, radiological, and prognostic features of the myelin oligodendrocyte glycoprotein antibody (MOG-ab) and aquaporin-4 antibody (AQP4-ab) associated disease. This study also summarizes steroid maintenance therapy approaches for MOG-ab-positive children.Methods: A total of 160 children presenting with acquired demyelinating syndromes (ADS) between January 2016 and December 2019 were tested for MOG-ab and AQP4-ab. Clinical data, MRI scans, and survival analyses were compared between MOG-ab-positive and AQP4-ab-positive children. Evolution of serologic status and treatment response to immunosuppressants were collected in MOG-ab-positive children.Results: Of the 160 included children, the MOG-ab positivity rate (47.4%) was significantly higher than the AQP4-ab (5%) positivity rate. The recurrence rate for AQP4-ab disease (71.4%) was higher than that of MOG-ab disease (30.1%). For 135 children with both MOG-ab and AQP4-ab tested, the median age at onset was 7 (interquartile range [IQR] 5–10) years, and the median follow-up period was 19 (IQR 13–27.5) months. MOG-ab-positive children more frequently presented with acute disseminated encephalomyelitis, had deep gray matter lesions on MRI, had a better clinical and radiological recovery, and were less likely to have sustained disability than AQP4-ab-positive children. In MOG-ab-positive and AQP4-ab-positive children, maintenance therapy was a protective factor for recurrence, but presenting optic neuritis was a predictor of earlier relapse. A high Expanded Disability Status Scale score at onset was associated with sustained disability. Steroid maintenance therapy longer than 6 months after the initial attack was associated with a lower risk of a second relapse in MOG-ab-positive children. On serial serum MOG antibody analysis, clinical relapse occurred in 34.6% of children with persistent seropositivity, but none of the children who converted to seronegative status experienced relapse.Conclusion: The MOG antibody is more common in children with ADS than the AQP4 antibody. MOG-ab-positive children are characterized by distinct clinical and radiological features. Although some MOG-ab-positive children experience relapsing courses or have persistently seropositive status, they still predict a better outcome than AQP4-ab-positive children.

Objective To explore anti-neuronal surface antibodies and identify associated serum predictors of autoimmune encephalitis after Japanese encephalitis (JE). Methods This prospective study first detected anti-neuronal surface antibodies and cytokines in the serum and cerebrospinal fluid (CSF) of JE patients within one week of symptom onset. Anti-neuronal surface antibodies and cytokines in the serum were detected on day 21 post-JE. If the patients relapsed during the convalescent phase, we simultaneously detected JE virus RNA and cytokines in the CSF, as well as anti-neuronal surface antibodies in the serum and CSF. Results All 31 patients were negative for anti-neuronal surface antibodies at the onset of JE in the serum and CSF. During the convalescent phase, five patients developed autoimmune encephalitis (two had anti-N-methyl- d -aspartate receptor [NMDAR] antibodies, one had γ-aminobutyric acid-B receptor [GABABR] antibodies, and two had other antibodies against unknown neuronal surface antigens). Patients who developed autoimmune encephalitis experienced more severe outcomes than those who did not at the one-year follow-up (p = 0.044). The levels of serum CXCL13 and IL-6, as well as CXCL13, BAFF, CXCL10, and MMP-9 in the CSF were increased in the convalescent phase compared to the acute phase in patients who developed autoimmune encephalitis (p Conclusion In addition to anti-NMDAR antibodies, anti-GABABR antibodies and antibodies against unknown neuronal surface antigens can trigger autoimmune encephalitis following JE. Patients who developed autoimmune encephalitis had a poorer prognosis at the one-year follow-up. Serum CXCL13 may represent a predictor of autoimmune encephalitis after JE.

Backgroud:Stroke in children easily causes long-term dysfunction. Whether the prognoses of motor and anxiety disorders are related to the affected stroke area has not been reported. Methods: 109 cases of children with ischaemic stroke were reviewed and divided into three groups: lenticular nucleus lesions only (lenticular nucleus group), lenticular nucleus and caudate head lesions (caudate head group), and lenticular nucleus and thalamus lesions (thalamus group). Overall prognosis was evaluated by the mRS score. The SCAS-P was used to evaluate anxiety in children aged ≥6 years. Results: mRS scores were ≤2 points (mean: 0.62), no significant difference among groups. 3/21 (14.2%) patients in the caudate head group changed handedness, which is significantly higher than other groups. Patients with lesions in thalamus group had significantly higher SCAS-P scores. Conclusions: The overall prognosis of children with basal ganglia ischaemic stroke is good. However, hand preference changes and anxiety disorders may develop. Patients in the caudate head groups are more likely to suffer from fine motor disorders and changes in handedness. Patients within the thalamus group are more prone to anxiety than patients in the other groups. Anxiety disorders should be noted in children with basal ganglia stroke.

Purpose To assess the clinical outcome and evolution of recurrent afebrile seizures in children initially diagnosed with benign convulsions associated with mild gastroenteritis (CwG). Methods We reviewed and analyzed the medical records of 37 patients who were diagnosed as CwG at onset, followed by recurrent afebrile seizures and followed up for at least 24 months. Results The follow-up period ranged from 2 to 7 years (median, 40.1 months).Three patterns of recurrent afebrile seizures were recorded: afebrile seizures associated with gastrointestinal infection (AS-GI, n = 25), afebrile seizures associated with non-gastrointestinal infection (AS-nGI, n = 9), and unprovoked seizures (US, n = 3). Twenty eight patients (75.7%) had a second episode within 6 months after the first seizures. Five cases (13.5%) suffered three episodes of afebrile seizures. Seizure characteristics of the three patterns were similar, manifesting as clustered seizures in the majority. Focal epileptic activities in interictal EEG were found in 3 cases (9.4%) at onset, 10 cases (28.6%) at the second episode, respectively. Six patients were prescribed anti-epileptic drugs with apparently good responses. During at least 2 years’ follow-up, all the cases showed normal psychomotor development. Only one patient was diagnosed with epilepsy. Conclusions All the recurrent afebrile seizures initially diagnosed as CwG, irrespective of the kinds and frequency of relapses, showed favorable prognoses. CwG maybe falls within the category of situation-related seizures, rather than epilepsy.

Background Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare urea cycle disorder. The aim of this study was to present the clinical findings, management, biochemical data, molecular genetic analysis, and short‐term prognosis of five children with CPS1D. Methods The information of five CPS1D patients was retrospectively studied. We used targeted next‐generation sequencing to identify carbamoyl phosphate synthetase 1 (CPS1) variants in patients suspected to have CPS1D. Candidate mutations were validated by Sanger sequencing. In silico and structure analyses were processed for the pathogenicity predictions of the identified mutations. Results The patients had typically clinical manifestations and biochemical data of CPS1D. Genetic analysis revealed nine mutations in the CPS1 gene, including recurrence of c.1145C > T, five of which were firstly reported. Seven mutations were missense changes, while the remaining two were predicted to create premature stop codons. In silico and structure analyses showed that these genetic lesions were predicted to affect the function or stability of the enzyme. Conclusion We reported five cases of CPS1D. Five novel mutations of CPS1 gene were found. Mutations of CPS1 have private nature, and most of them are missense compound heterozygous. The mutation affecting residue predicted to interfere the catalytic sites, the internal tunnel, or the regulatory domain results in severe phenotype.

FeBSiC metglas was annealed at an optimized condition (350 °C, 5 min) to achieve the mixed phases with pristine amorphous phase and crystallization phase. With such annealed metglas, a self-biased magnetoelectric (ME) laminate of metglas/Pb(Zr, Ti)O3/metglas was fabricated. Without any external magnetic field, the composite exhibits the ME coefficient αE31 of 103 mV/(cm Oe) at 1 kHz and 15.5 V/(cm Oe) at electromechanical resonance frequency. The induced ME voltage shows a good linear relation to the applied AC magnetic field with amplitude as low as 10−7 T at 1 kHz. It is expected that such self-biased ME composites provide a practical application of economical and compact magnetic sensors.

Background Unilateral brain edema is a rare peri-ictal imaging abnormality related to focal status epilepticus. We present the largest series of these patients, describe their clinical features and magnetic resonance imaging (MRI) findings, and analyze the possible underlying pathophysiology. Methods We reviewed the medical records in Southwest China’s largest tertiary’s children’s medical center from 2011 to 2017. Patients with focal status epilepticus were included if acute-phase cerebral MRI showed unilateral edematous swelling of the epileptic hemisphere. Results Eleven children were included. The age at which the patients presented with status epilepticus ranged from seven months to 10.8 years. All patients showed prolonged clonic seizures with marked unilateral predominance followed by hemiplegia of the ipsilateral limbs. The seizure duration ranged from one to 72 hours. All patients showed hyperintensities on T2-weighted images and diffusion-weighted images involving the whole pathologic hemisphere. Three patients showed involvement of the contralateral cerebellar hemisphere and one showed hippocampal herniation. Magnetic resonance angiography of the brain was performed in seven patients, among which three showed dilation of the affected hemispheric arteries. Three patients underwent follow-up MRI, and all the examinations revealed ipsilateral cerebral hemisphere atrophy. Conclusions Focal status epilepticus may cause unilateral brain edema, and cytotoxic edema probably plays an important role in the pathophysiology of brain injury.

The electronic structures and magnetic properties of FeRuCrP and FeRhCrP quaternary Heusler compounds with LiMgPbSb-type structures have been investigated via first-principles calculations. The calculational results show that both FeRuCrP and FeRhCrP compounds present perfect half-metallic properties: Showing large half-metallic band gaps of 0.39 eV and 0.38 eV, respectively. The total magnetic moments of FeRuCrP and FeRhCrP are 3 μB and 4 μB per formula unit, respectively. The magnetism of them mainly comes from the 3d electrons of Cr atoms and follows the Slater-Paulig behavior of Heusler compounds: Mt = Zt − 24. Furthermore, the half-metallic properties of FeRuCrP and FeRhCrP compounds can be kept in a quite large range of lattice constants (about 5.44–5.82 Å and 5.26–5.86 Å, respectively) and are quite robust against tetragonal deformation (c/a ratio in the range of 0.94–1.1 and 0.97–1.1, respectively). Moreover, the large negative cohesion energy and formation energy of FeRuCrP and FeRhCrP compounds indicate that they can be synthesized experimentally.

Japanese encephalitis (JE) is usually a monophasic disease; however, in rare cases, patients with JE may have an early relapse after a partial recovery, giving rise to a biphasic pattern for the disease. In this study, we report three pediatric cases in which post-JE relapse was characterized by movement disorder and/or behavioral problems, and was related to anti-N-methyl-D-aspartate receptor (NMDAR) immunoglobulin G (IgG). Serum and cerebrospinal fluid were examined for anti-NMDAR IgG in three patients who had confirmed JE and then developed relapsing symptoms which were similar to those of anti-NMDAR encephalitis. The main symptoms of the two young children were choreoathetosis, irritability, and sleep disorder; while for the teenager, agitation, mutism, rigidity, and sleep disorder were the main symptoms. Samples of cerebrospinal fluid from all patients were positive for anti-NMDAR IgG, and all patients gradually improved with immunotherapy. Testing for NMDAR antibodies is highly recommend in patients with JE, especially those with a relapsing syndrome involving movement disorder and/or behavioral problems, as these patients may benefit from immunotherapy.

BACKGROUND We aimed to investigate the outcome of children with Japanese encephalitis (JE) and to examine the predictors of the outcome. METHODS We reviewed the medical records of children with laboratory-confirmed Japanese encephalitis hospitalized in Children's Hospital of Chongqing Medical University in 2010. At least six months after discharging from hospital, the outcome of patients was assessed with the Liverpool Outcome Score. We also examined the predictors of the outcome by using multiple logistic regression analysis. RESULTS Of the 108 children with JE, 87 patients with full available information were included. Eight (9%) died in hospital or before follow-up. Six (7%) had severe sequelae greatly impairing their functions and likely to make them dependent. Nine (10%) had moderate sequelae mildly affecting their functions and probably compatible with independent living. Sixteen (18%) had minor sequelae with mild effects on function, personality change or on medication. Forty-eight (55%) demonstrated full recovery. A combination of ≧2 witnessed convulsions and abnormal breathing pattern predicted a poor outcome with 78% sensitivity and 98% specificity. CONCLUSIONS Death and severe disability are common in children with JE. Seizures and abnormal breathing pattern may predict a poor outcome.

Recent studies have reported microglia that are activated in the central nervous system (CNS) in patients with temporal lobe epilepsy and animal models of epilepsy. However, limited data are available on the dynamic changes of the proportions of various phenotypes of microglia throughout epileptogenesis and whether IL-4/IFN-γ administration can modulate the proportions of microglial phenotypes to affect the outcome of epilepsy. The current study examined this issue using a mouse model of pilocarpine-induced epilepsy. Flow cytometry showed that classically activated microglia (M1) and alternatively activated microglia (M2) underwent variations throughout the stages of epileptogenesis. The altered trends in the microglia-associated cytokines IL-1β, IL-4, and IL-10 paralleled the changes in phenotype proportions. We found that intraperitoneal injections of IL-4 and IFN-γ, which have been reported to modulate the phenotypes of microglia in vitro, also affected the proportion of microglia in vivo. In addition, correctly timing the modulation of the proportion of microglia improved the outcomes of epilepsy based on the reduced frequency, duration, and severity of spontaneous recurrent seizures (SRS) and increased the performances of the mice in the Morris water maze. This study is the first to report altering the proportion of microglial phenotypes in pilocarpine-induced epileptogenesis. Intraperitoneal injection of IL-4/IFN-γ could be used to modulate the proportions of the types of microglia, and epilepsy outcomes could be improved by correctly timing this modulation of phenotypes.

Supplemental Digital Content is available in the text, Rationale: Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The neurological manifestations include progressive psychomotor retardation, behavioral disorders, and early-onset seizures. Patient concerns: From early infancy, a Chinese boy had experienced macrocytic anemia, leukopenia, thrombocytopenia, recurrent pneumonia, diarrhea, and mouth ulcers. He also presented with progressive neurological symptoms. Diagnosis: A novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age. Interventions: After the HFM diagnosis, the boy was treated with folinic acid. Lessons: Folinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.

Summary Objective To explore if afebrile seizures associated with minor infections are a single category of seizure, or a set of different kinds of seizures. Methods We conducted this prospective cohort study on three kinds of first afebrile seizure: first afebrile seizure associated with gastrointestinal infection (AS-GI), first afebrile seizure associated with nongastrointestinal infection (AS-nGI), and first unprovoked seizure (US). The Kaplan-Meier estimate risks of recurrent seizures were analyzed and compared pairwise. The characteristics of recurrent seizures were also compared pairwise. Results The Kaplan-Meier estimate risks of recurrent seizure at 2 years of the AS-GI, AS-nGI, and US groups were 6.9%, 23.7%, and 37.8%, respectively. The pairwise differences were significant between the AS-GI and US groups (p