Neuropsychiatric SLE (NPSLE) comprises the neurologic and psychiatric syndromes observed in patients with SLE after exclusion of other causes. The diagnosis of NPSLE is challenging due to diverse clinical manifestations and absence of laboratory or radiologic biomarkers.

We present the case of a patient with SLE with a chronic isolated seizure and was successfully managed with antiepileptic medication and high-dose corticosteroids.

Seizures may occur as an isolated manifestation of an SLE flare. Ischemic and inflammatory causes of seizure may coexist in active lupus and both should be considered in managing patients. A prompt and holistic workup to rule out metabolic, infectious, and structural neural causes and lupus disease activity of seizures is prudent for patients with SLE.

The occurrence of seizures after hemorrhagic stroke is a significant contributor to mortality in patients with hemorrhagic stroke. Compared with ischemic stroke， hemorrhagic stroke is more frequently to cause seizures， with high disability and high mortality. If not detected early and treated in time， seizures may aggravate patient’s conditions in the acute stage， and cause accidental injuries in the recovery stage， increasing the burden on patient’s family. Early prediction and timely treatment of seizures can improve the survival rate and quality of life of patients. With science and technology advances， domestic and international researchers have established prediction models for seizures after hemorrhagic stroke， which use machine learning methods to process and identify relevant data， improving the accuracy of prediction for the disease. This review aims to summarize risk factors for post-hemorrhagic stroke seizures and related prediction models， so as to provide guidance for clinical diagnosis and treatment.
Seizures

BACKGROUND AND OBJECTIVE

Benign convulsions with mild gastroenteritis (CwG) is common but not readily recognizable to primary care physicians and pediatricians. Most literature comes from East Asia and Western countries. Studies among the Filipino population are lacking. This study aimed to determine the clinical presentation, management, and outcomes, and provide knowledge for accurate diagnosis and appropriate management.

This is a retrospective cohort study on pediatric patients diagnosed with CwG admitted at a tertiary hospital in the Philippines from January 2020 to December 2023. The study included patients 1-72 months old presenting with seizures accompanied by symptoms of gastroenteritis, without clinical signs of dehydration, electrolyte derangement, and fever (body temperatureRESULTS

Twenty patients met the criteria for CwG, aged 7-60 months, with a male:female ratio of 1:1. Most seizures were brief, generalized tonic-clonic occurring in clusters, with an average frequency of 3 per day. Laboratory findings, electroencephalogram, and neuroimaging results were mostly normal. Anti-seizure medications (ASMs) were prescribed in 65% (n=13), with levetiracetam being the most common. Most seizure clusters did not persist, and none needed additional ASM. Follow-up showed normal neurodevelopmental profiles.

This study highlights that CwG is also encountered among Filipino children. The clinical characteristics align with the known presentation of CwG. Most patients had normal test results and a benign course. Given this selflimiting nature, extensive testing and unnecessary therapy are not recommended, and instead provision of adequate counseling to the caregivers is advocated.

Neuropsychiatric SLE (NPSLE) comprises the neurologic and psychiatric syndromes observed in patients with SLE after exclusion of other causes. The diagnosis of NPSLE is challenging due to diverse clinical manifestations and absence of laboratory or radiologic biomarkers.

We present the case of a patient with SLE with a chronic isolated seizure and was successfully managed with antiepileptic medication and high-dose corticosteroids.

Seizures may occur as an isolated manifestation of an SLE flare. Ischemic and inflammatory causes of seizure may coexist in active lupus and both should be considered in managing patients. A prompt and holistic workup to rule out metabolic, infectious, and structural neural causes and lupus disease activity of seizures is prudent for patients with SLE.

OBJECTIVE: To observe the clinical efficacy of acupuncture for prevention of moderate to severe seasonal allergic rhinitis. METHODS: A total of 105 patients with moderate to severe seasonal allergic rhinitis were randomly divided into an observation group (53 cases, 3 cases dropped off) and a control group (52 cases, 4 cases dropped off). The patients in the observation group were treated with acupuncture at Yintang (GV 24⁺), Yingxiang (LI 20), Hegu (LI 4), Zusanli (ST 36), Fengchi (GB 20), Feishu (BL 13), etc. 4 weeks before the seizure period, once every other day, 3 times a week for 4 weeks. The patients in the control group were not given any intervention before the seizure period. Emergency drugs can be given appropriately during the seizure period in both groups. After seizure period, the seizure rate was recorded in the two groups; before treatment and on week 1, 2, 4, 6 of seizure period after treatment, the rhinoconjunctivitis quality of life questionnaire (RQLQ) score and total nasal symptom score (TNSS) were observed in the two groups; the rescue medication score (RMS) was recorded on week 1-6 of seizure period in the two groups. RESULTS: The seizure rate of the observation group was 84.0% (42/50), which was lower than 100.0% (48/48) in the control group (P<0.05). After treatment, the scores of RQLQ and TNSS at each time point of seizure period were decreased compared with before treatment in the observation group (P<0.01), which were lower than the control group (P<0.01). The RMS score at each time point of seizure period in the observation group was lower than the control group (P<0.05, P<0.01). CONCLUSION Acupuncture can reduce the incidence of moderate to severe seasonal allergic rhinitis, relieve the symptoms, improve the quality of life and reduce the use of emergency drugs.
Humans ; Rhinitis, Allergic, Seasonal ; Rhinitis, Allergic/therapy* ; Quality of Life ; Acupuncture Therapy ; Acupuncture Points ; Treatment Outcome ; Seizures

OBJECTIVE: To analyze the clinical manifestation and genetic basis for four children with delayed onset Ornithine transcarbamylase deficiency (OTCD). METHODS: Clinical data of four children with OTCD admitted to the Children's Hospital of the First Affiliated Hospital of Zhengzhou University from January 2020 to April 2021 were reviewed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Bioinformatic analysis and Sanger sequencing verification were carried out to verify the candidate variants. Impact of the candidate variants on the protein structure was also predicted. RESULTS: The clinical manifestations of the four children included vomiting, convulsion and disturbance of consciousness. WES revealed that the child 1 was heterozygous for a c.421C>T (p.R141X) variant in exon 5, children 2 and 3 were hemizygous for a c.119G>A (p.R40H) variant in exon 2, and child 4 was hemizygous for a c.607T>A (p.S203T) variant in exon 5 of the OTC gene. Among these, the c.607T>A variant was unreported previously and predicted to be pathogenic (PM1+PM2_Supporting+PP3+PP4). Bioinformatic analysis has predicted that the variant may result in breakage of hydrogen bonds and alter the protein structure and function. Sanger sequencing confirmed that the variants in children 2 to 4 have derived from their mothers. CONCLUSION The pathogenic variants of the OTC gene probably underlay the delayed OTCD in 4 children. The discovery of the c.607T>A variant has enriched the mutational spectrum of the OTC gene.
Child ; Humans ; Ornithine Carbamoyltransferase Deficiency Disease/genetics* ; Exons ; Seizures ; Computational Biology ; Heterozygote

OBJECTIVE: To explore the genetic etiology of a patient with epilepsy and provide genetic counseling. METHODS: A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation. Possible transcriptional changes caused by the variant was detected by reverse transcription-PCR and Sanger sequencing. RESULTS: The patient was a 35-year-old female with no fever at the onset, loss of consciousness and abnormal firing in the temporal lobe, manifesting predominantly as convulsions and fainting. WES revealed that she had harbored a heterozygous c.2841+5G>A variant of the SCN9A gene, which was verified by Sanger sequencing. cDNA sequencing confirmed that 154 bases were inserted between exons 16 and 17 of the SCN9A gene, which probably produced a truncated protein and affected the normal function of the SCN9A protein. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.2841+5G>A variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting). CONCLUSION The c.2841+5G>A variant of the SCN9A gene probably underlay the epilepsy in this patient. Above finding has enriched the variant spectrum of the SCN9A gene and provided a basis for the prenatal diagnosis and preimplantation genetic testing for this patient.
Humans ; Female ; Pregnancy ; Adult ; Epilepsy/genetics* ; Seizures ; Exons ; DNA, Complementary ; Genetic Counseling ; NAV1.7 Voltage-Gated Sodium Channel

OBJECTIVES: To study the factors influencing the short-term (28 days) efficacy of initial adrenocorticotropic hormone (ACTH) therapy for infantile epileptic spasms syndrome (IESS), as well as the factors influencing recurrence and prognosis. METHODS: The clinical data were collected from the children with IESS who received ACTH therapy for the first time in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from April 2008 to January 2018 and were followed up for ≥2 years. The multivariate logistic regression analysis was used to evaluate the factors influencing the short-term efficacy of ACTH therapy, recurrence, and long-term prognosis. RESULTS: ACTH therapy achieved a control rate of seizures of 55.5% (111/200) on day 28 of treatment. Of the 111 children, 75 (67.6%) had no recurrence of seizures within 12 months of follow-up. The possibility of seizure control on day 28 of ACTH therapy in the children without focal seizures was 2.463 times that in those with focal seizures (P<0.05). The possibility of seizure control on day 28 of ACTH therapy in the children without hypsarrhythmia on electroencephalography on day 14 of ACTH therapy was 2.415 times that in those with hypsarrhythmia (P<0.05). The possibility of recurrence within 12 months after treatment was increased by 11.8% for every 1-month increase in the course of the disease (P<0.05). The possibility of moderate or severe developmental retardation or death in the children without seizure control after 28 days of ACTH therapy was 8.314 times that in those with seizure control (P<0.05). The possibility of moderate or severe developmental retardation or death in the children with structural etiology was 14.448 times that in those with unknown etiology (P<0.05). CONCLUSIONS Presence or absence of focal seizures and whether hypsarrhythmia disappears after 14 days of treatment can be used as predictors for the short-term efficacy of ACTH therapy, while the course of disease before treatment can be used as the predictor for recurrence after seizure control by ACTH therapy. The prognosis of IESS children is associated with etiology, and early control of seizures after ACTH therapy can improve long-term prognosis.
Child ; Humans ; Infant ; Adrenocorticotropic Hormone/therapeutic use* ; Spasms, Infantile/drug therapy* ; Treatment Outcome ; Seizures ; Electroencephalography/adverse effects* ; Spasm/drug therapy*

OBJECTIVE: To propose a semi-supervised epileptic seizure prediction model (ST-WGAN-GP-Bi-LSTM) to enhance the prediction performance by improving time-frequency analysis of electroencephalogram (EEG) signals, enhancing the stability of the unsupervised feature learning model and improving the design of back-end classifier. METHODS: Stockwell transform (ST) of the epileptic EEG signals was performed to locate the time-frequency information by adaptive adjustment of the resolution and retaining the absolute phase to obtain the time-frequency inputs. When there was no overlap between the generated data distribution and the real EEG data distribution, to avoid failure of feature learning due to a constant JS divergence, Wasserstein GAN was used as a feature learning model, and the cost function based on EM distance and gradient penalty strategy was adopted to constrain the unsupervised training process to allow the generation of a high-order feature extractor. A temporal prediction model was finally constructed based on a bi-directional long short term memory network (Bi-LSTM), and the classification performance was improved by obtaining the temporal correlation between high-order time-frequency features. The CHB-MIT scalp EEG dataset was used to validate the proposed patient-specific seizure prediction method. RESULTS: The AUC, sensitivity, and specificity of the proposed method reached 90.40%, 83.62%, and 86.69%, respectively. Compared with the existing semi-supervised methods, the propose method improved the original performance by 17.77%, 15.41%, and 53.66%. The performance of this method was comparable to that of a supervised prediction model based on CNN. CONCLUSION The utilization of ST, WGAN-GP, and Bi-LSTM effectively improves the prediction performance of the semi-supervised deep learning model, which can be used for optimization of unsupervised feature extraction in epileptic seizure prediction.
Humans ; Memory, Short-Term ; Seizures/diagnosis* ; Electroencephalography

OBJECTIVE: To explore the clinical characteristics and genetic etiology of three children with Menkes disease. METHODS: Three children who had presented at the Children's Medical Center, the Affiliated Hospital of Guangdong Medical University from January 2020 to July 2022 were selected as the study subjects. Clinical data of the children were reviewed. Genomic DNA was extracted from peripheral blood samples of the children, their parents and sister of child 1. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq), and bioinformatic analysis. RESULTS: Child 1 was a 1-year-and-4-month male, and children 2 and 3 were monozygotic twin males aged 1-year-and-10-month. The clinical manifestations of the three children have included developmental delay and seizures. WES showed that child 1 has harbored a c.3294+1G>A variant of the ATP7A gene. Sanger sequencing confirmed that his parents and sister did not carry the same variant, suggesting that it was de novo. Children 2 and 3 had carried a c.77266650_77267178del copy number variation. CNV-seq results showed that their mother has carried the same variant. By searching the HGMD, OMIM and ClinVar databases, the c.3294+1G>A was known to be pathogenic. No carrier frequency has been recorded in the 1000 Genomes, ESP, ExAC and gnomAD databases. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the ATP7A gene c.3294+1G>A variant was predicted to be pathogenic. The c.77266650_77267178del variant has involved exons 8 to 9 of the ATP7A gene. ClinGen online system score for it was 1.8, which was also considered to be pathogenic. CONCLUSION The c.3294+1G>A and c.77266650_ 77267178del variants of the ATP7A gene probably underlay the Menkes disease in the three children. Above finding has enriched the mutational spectrum of Menkes disease and provided a basis for clinical diagnosis and genetic counseling.
Humans ; Male ; Computational Biology ; Copper-Transporting ATPases/genetics* ; DNA Copy Number Variations ; Exons ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Peptide Fragments ; Seizures ; Infant