Association between body mass index and tic disorders in school-age children.

OBJECTIVE: To explore the relationship between body mass index (BMI ) and the severity of tic disorders (TDs) in children 6-14 years old. METHODS: A total of 86 children diagnosed with TDs in a hospital between Jan. 2023 and Sept. 2023 were collected by convenient sampling method, and the general data and TD-specific data were collected and analyzed. RESULTS: Univariate analysis showed that patients with different Yale Global Tic Severity Scale (YGTSS) grades had statistically significant differences in age, BMI, residence, snacking pattern, weekly physical exercise frequency, weekly physical exercise time, and proportion of cesarean birth. Multiple linear regression analysis showed that the YGTSS score grades were related to BMI, snacking pattern, and cesarean birth of the patients. Correlation analysis revealed a positive correlation between BMI grades and the YGTSS score grades, with a higher BMI indicating more severe TDs. Predictive value evaluation showed that BMI, snacking pattern, and cesarean birth had predictive values for TD severity, and the highest value was found in the combined prediction. CONCLUSION: BMI, snacking pattern, and cesarean birth are of predictive values for the severity of TDs. In addition, BMI is positively correlated with the severity of TDs, and a higher BMI suggests more severe TDs.

Etiological analysis of 167 cases of drug-resistant epilepsy in children.

BACKGROUND: To analyze the etiological distribution characteristics of drug-resistant epilepsy (DRE) in children, with the aim of providing valuable perspectives to enhance clinical practice. METHODS: In this retrospective study, clinical data were collected on 167 children with DRE who were hospitalized between January 2020 and December 2022, including gender, age of onset, seizure types, video electroencephalogram(VEEG) recordings, neuroimaging, and genetic testing results. Based on the etiology of epilepsy, the enrolled children were categorized into different groups. The rank-sum test was conducted to compare the age of onset for different etiologies. RESULTS: Of the 167 cases, 89 (53.3%) had a clear etiology. Among them, structural factors account for 23.4%, genetic factors for 19.2%, multiple factors for 7.2%, and immunological factors for 3.6%. The age of onset was significantly earlier in children with genetic causes than those with structural (P < 0.001) or immunological (P = 0.001) causes. CONCLUSIONS: More than half of children with DRE have a distinct underlying cause, predominantly attributed to structural factors, followed by genetic factors. Genetic etiology primarily manifests at an early age, especially among children aged less than one year. This underscores the need for proactive enhancements in genetic testing to unveil the underlying causes and subsequently guide treatment protocols.

The incidence and risk factors of secondary epilepsy after viral encephalitis in children: A 10-year single-center retrospective analysis.

Secondary epilepsy is a common concomitant disease of viral encephalitis (VE) in children. However, the risk factors for secondary epilepsy after VE remain debated. The aim of this study was to perform a 10-year single-center retrospective analysis to investigate the incidence and risk factors of secondary epilepsy after VE in children. A total of 8691 patients suffered from VE in our hospital between December 2011 and February 2022 were included. The patients were divided into control group (Group C) and epilepsy group (Group E) according to whether they followed secondary epilepsy. Information about treatment process was collected from medical records to determine the incidence. Univariate analysis and multivariate logistic regression analysis were performed to identify the independent risk factors. In the current study, the occurrence of secondary epilepsy after VE in pediatric patients was 10.99% (385 of 3503). The results of univariate and multivariate analysis showed that unconsciousness, convulsions, times of epilepsy >2, epileptiform discharge of Electroencephalogram (EEG), and cortical and subcortical damage of magnetic resonance imaging/computer tomography were the significant risk factors for secondary epilepsy after VE. Nearly one tenth of pediatric patients suffered from secondary epilepsy after VE. Interventions for identified risk factors should be used to prevent the occurrence of secondary epilepsy.

RNA sequencing reveals differential long noncoding RNA expression profiles in bacterial and viral meningitis in children.

BACKGROUND: We aimed to investigate the involvement of long non-coding RNA (lncRNA) in bacterial and viral meningitis in children. METHODS: The peripheral blood of five bacterial meningitis patients, five viral meningitis samples, and five healthy individuals were collected for RNA sequencing. Then, the differentially expressed lncRNA and mRNA were detected in bacterial meningitis vs. controls, viral meningitis vs. healthy samples, and bacterial vs. viral meningitis patients. Besides, co-expression and the competing endogenous RNA (ceRNA) networks were constructed. Receiver operating characteristic curve (ROC) analysis was performed. RESULTS: Compared with the control group, 2 lncRNAs and 32 mRNAs were identified in bacterial meningitis patients, and 115 lncRNAs and 54 mRNAs were detected in viral meningitis. Compared with bacterial meningitis, 165 lncRNAs and 765 mRNAs were identified in viral meningitis. 2 lncRNAs and 31 mRNAs were specific to bacterial meningitis, and 115 lncRNAs and 53 mRNAs were specific to viral meningitis. The function enrichment results indicated that these mRNAs were involved in innate immune response, inflammatory response, and immune system process. A total of 8 and 1401 co-expression relationships were respectively found in bacterial and viral meningitis groups. The ceRNA networks contained 1 lncRNA-mRNA pair and 4 miRNA-mRNA pairs in viral meningitis group. GPR68 and KIF5C, identified in bacterial meningitis co-expression analysis, had an area under the curve (AUC) of 1.00, while the AUC of OR52K2 and CCR5 is 0.883 and 0.698, respectively. CONCLUSIONS: Our research is the first to profile the lncRNAs in bacterial and viral meningitis in children and may provide new insight into understanding meningitis regulatory mechanisms.

Study on the correlation between IL-12p70, IL-17A and migraine in children.

Objective: To compare the serum levels of 12 cytokines in migraine group, encephalitis with headache symptoms group, pneumonia without headache symptoms group and migraine subgroups to explore the cytokines associated with migraine in children and their levels. Methods: A total of 44 children with migraine, 27 children in the encephalitis group with headache symptoms and 44 children in the pneumonia group without headache symptoms were selected from January 2022 to August 2023 in Hebei Children's Hospital. They were all tested for serum cytokines by immunofluorescence assay. The migraine group was further divided into subgroups according to different age, gender, course of disease, and presence of coinfection. The differences of serum cytokine levels among the above groups were compared, and the correlation analysis was carried out. Results: Except IL-5, there were no significant differences in the expression levels of other 11 inflammatory cytokines between migraine subgroups. Compared with encephalitis with headache symptoms group and pneumonia without headache symptoms group the serum levels of IL-4, TNF-α, IL-17A, and IL-12p70 were higher in migraine group than in pneumonia group, and the levels of IL-12p70 were higher than those in encephalitis group (p < 0.05). An increase in serum IL-12p70 (OR = 1.267, 95%CI 1.054-1.523, p = 0.012) and IL-17A (OR = 1.066, 95%CI 1.016-1.119, p = 0.010) levels had a significant effect on migraine. Conclusion: Elevated serum levels of IL-12p70 and IL-17A may increase the risk of migraine in children, which has certain diagnostic and predictive value.

Multimodal evoked potentials are useful for the diagnosis of pediatric acute disseminated encephalomyelitis.

BACKGROUND: The application of evoked potentials (EPs) to the diagnosis of acute disseminated encephalomyelitis (ADEM ) has not been investigated in detail. The aim of this study, therefore, was to analyze the value of multimodal EPs in the early diagnosis of pediatric ADEM. METHODS: This was a retrospective study in which we enrolled pediatric ADEM patients and controls (Cs) from neurology units between 2017 and 2021. We measured indices in patients using brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs) and somatosensory evoked potentials (SEPs), and then we analyzed their early diagnostic value in ADEM patients. RESULTS: The mean age of the ADEM group was 6.15 ± 3.28 years (range,1-12 years) and the male/female ratio was 2.1:1 The mean age of the Cs was 5.97 ± 3.40 years (range,1-12 years) and the male/female ratio was 1.3:1. As we used magnetic resonance imaging (MRI) as the diagnostic criterion, the sensitivity, specificity, and accuracy (κ was 0.88) of multimodal EPs were highly consistent with those of MRI; and the validity could be ranked in the following order with respect to the diagnosis of ADEM: multimodal Eps > single SEP > single VEP > single BAEP. Of 34 patients with ADEM, abnormalities in multimodal EPs were 94.12%, while abnormalities in single VEPs, BAEPs and SEPs were 70.59%,64.71%and 85.3%, respectively. We noted significant differences between single VEP/BAEPs and multimodal EPs (χ2 = 6.476/8.995,P = 0.011/0.003). CONCLUSIONS: The combined application of multimodal EPs was superior to BAEPs, VEPs, or SEPs alone in detecting the existence of central nerve demyelination, and we hypothesize that these modalities will be applicable in the early diagnosis of ADEM.

Inhibition of the Tumor Suppressor Gene SPINK5 via EHMT2 Induces the Oral Squamous Cell Carcinoma Development.

Serine protease inhibitor Kazal-type 5 (SPINK5) has been revealed as a significant prognostic biomarker in oral squamous cell carcinoma (OSCC). However, there is little information regarding the detailed epigenetics mechanism underlying its dysregulation in OSCC. Using the Gene Expression Omnibus database, we identified SPINK5 as a significantly downregulated gene in OSCC tissues. Moreover, SPINK5 inhibited the malignant aggressiveness of HSC3 and squamous cell carcinomas (SCC)9 cells, whereas depletion of SPINK5 using shRNAs led to the opposite trend. The euchromatic histone lysine methyltransferase 2 (EHMT2) was found to bind to the SPINK5 promoter, and EHMT2 repressed the SPINK5 expression. SPINK5 reversed the stimulating effects of EHMT2 on the aggressiveness of HSC3 and SCC9 cells by impairing the Wnt/ß-catenin pathway. Wnt/ß-catenin inhibitor IWR-1 treatment reverted the malignant phenotype of OSCC cells in the presence of short hairpin RNA (sh)-SPINK5. Silencing of EHMT2 inhibited tumor growth and blocked the Wnt/ß-catenin signaling in OSCC, which was reversed by SPINK5 knockdown. Our study shows that SPINK5, mediated by the loss of EHMT2, can inhibit the development of OSCC by inhibiting Wnt/ß-catenin signaling and may serve as a treatment target for OSCC.

Comparison of two multiplex PCR tests for common pathogen detection in hospitalized children with acute respiratory infection.

INTRODUCTION: Multiplex PCR methods have significantly improved the diagnosis of acute respiratory tract infections (ARTIs) in children. The ResP-CE System coupled with capillary electrophoresis is a highly specialized, automated, and expensive technology for detecting common pathogens in ARTIs. The XYRes-MCA System, a remarkably less expensive multiplex PCR instrument, employs hybridization for the detection of ARTI pathogens. Both methods detect 9 common microorganisms in ARTIs, i.e., RSV, FLUAV, FLUBV, ADV, PIV, HMPV, HBOV, HCOV, and MP. In this study, we aimed to compare the performance of these two methods in the detection of pathogens from sputum specimens collected from children with ARTIs. METHODOLOGY: Sputum specimens were collected from 237 hospitalized children with ARTIs. Nucleic acid was extracted on an automated workstation. The ResP-CE and XYres-MCA systems were applied to detect pathogens from the samples, and the test result agreement between the two methods was evaluated using Kappa statistics. RESULTS: The ResP-CE and XYres-MCA identified pathogens, single or in combination, in 151 (63.7%) and 171 (72.1%) of 237 samples, respectively. Approximately 85% of positive samples identified by either method contained a single pathogen. Moderate to almost perfect concordance between the two methods was found in detecting the following 7 pathogens: RSV, FLUAV, FLUBV, PIV, HMPV, HBOV, and MP. CONCLUSIONS: These two methods are comparable in detecting common pathogens of ARTIs in children. As XYres-MCA analysis is more cost-effective, it could play an important role in diagnosing ARTIs in children in less economically developed regions.

[Characteristics of sympathetic skin response in children with Guillain-Barré syndrome]. / å„¿ç«¥å‰å °-巴雷综合征交感皮肤反应的特点分析.

OBJECTIVES: To explore the value of sympathetic skin response (SSR) in the early diagnosis and prognostic evaluation of Guillain-Barre syndrome (GBS) in children. METHODS: A retrospective analysis was conducted on the clinical data of 25 children with GBS who were diagnosed from October 2018 to November 2022, and 30 children who were diagnosed with Tourette's syndrome during the same period were selected as the control group. The characteristics of SSR were compared between the two groups, and the association of SSR with autonomic dysfunction (AD), disease severity, and prognosis was analyzed. RESULTS: The GBS group had a significantly higher abnormal rate of SSR than the control group during the acute phase (P<0.001). SSR combined with early nerve conduction (within 2 weeks after onset) had a sensitivity of 84%, a specificity of 100%, and an accuracy of 93% in the diagnosis of GBS. There were no significant differences in the proportion of AD cases, as well as the Hughes scores during the disease peak, between the abnormal and normal SSR groups (P>0.05). All 7 children with poor short-term prognosis (at 1 month after onset) had abnormal SSR. CONCLUSIONS: SSR can be used for the early diagnosis of GBS and the monitoring of treatment response in children.

Evaluation of sympathetic skin response for early diagnosis and follow-up of diabetic peripheral neuropathy in children.

BACKGROUND: The morbidity of type 1 diabetes mellitus (T1DM) in children is increasing and diabetic peripheral neuropathy (DPN) is one of the main microvascular complications of T1DM. The aim of this study was to explore sympathetic skin response (SSR) characteristics in children with T1DM and analyze the value of early diagnosis and follow-up in T1DM complicated with DPN. METHODS: Our prospective study enrolling 85 participants diagnosed with T1DM and 30 healthy controls (HCs) in the Children's Hospital of Hebei Province from 2017 to 2020. Compared the outcomes of SSR and nerve conduction study (NCS) in T1DM, and evaluated the variations in SSR and NCS of different durations, as well as changes after six months of therapy. RESULTS: SSR latency of T1DM group showed statistical difference as compared to HCs (p < 0.05). The SSR test was more sensitive than the NCS test in the early diagnosis of T1DM with DPN (p < 0.05). The abnormal rates of SSR and NCS in long duration of disease were higher than those in short duration of disease (p < 0.05). Among 65 participants with diabetic neuropathy, the onset latencies of SSR were shortened and the NCS were improved after treatment (p < 0.05). CONCLUSIONS: SSR could provide the accurate early diagnosis and follow-up of pediatric diabetic peripheral neuropathy.

Clinical and functional study of two de novo variations of CDKL5 gene.

The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental and epileptic encephalopathy (DEE). Although numerous cases of CDKL5 have been reported, there is limited discussion regarding functional verification. We described two children with DEE caused by de novo variations of CDKL5 gene, analyzed their clinical manifestations, and performed genetic testing on their gene variation sites. The two cases presented with tonic seizures followed by epileptic spasms, indicative of refractory epilepsy. Physical examination revealed abnormal facial features, including wide eye distance, low nose base, and high nose bridge. Both cases exhibited developmental disabilities. Cranial magnetic resonance imaging (MRI) showed widening of the bilateral frontotemporal extracerebral space. Genetic testing identified variations at the gene sites c.463 + 4A > G (splicing) and c.1854_1861delCAAAGTGA (p.D618Efs*18). Minigene experiments further confirmed that the intronic variation c.463 + 4A > G (splicing) disrupted splicing, leading to protein truncation. CDKL5 gene variation can lead to DEE, and intron variation site c.463 + 4A > G (splicing) can cause protein truncation, which is a pathogenic variation.

Bioinformatics analysis of synovial fluid-derived mesenchymal stem cells in the temporomandibular joint stimulated with IL-1ß.

The stimulation of interleukin-1ß (IL-1ß) is the risk factor for temporomandibular joint osteoarthritis (TMJOA). We aim to investigate IL-1ß stimulation-related gene and signal pathways in synovial fluid-derived mesenchymal stem cells (SF-MSCs) inflammatory activation to predict the occurrence of TMJOA. The microarray dataset GSE150057 was downloaded from the gene expression omnibus (GEO) database, and principal component analysis (PCA) was performed on the involved genes to obtain differential genes (DEGs). Gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) pathway were performed based on the DAVID database. The protein-protein interaction (PPI) network was constructed by the STRING database to identify hub genes. Based on the correlation between differential expression levels of lncRNAs and mRNAs, the co-expression network of lncRNA-mRNA was established. A total of 200 DEGs were obtained. Among 168 differential mRNAs, 126 were up-regulated and 42 were down-regulated; among 32 differential lncRNAs, 23 were up-regulated and 9 were down-regulated. Then, GO analysis showed that DEGs were mainly involved in signal transduction, inflammation, and apoptosis processes. KEGG pathway mainly involved the TNF signaling pathway, NF-κB signaling pathway, NOD-like receptor signaling pathway, and cytokine-cytokine-receptor interaction. Ten hub genes were recognized by PPI analysis, including CXCL8, CCL2, CXCL2, NFKBIA, CSF2, IL1A, IRF1, VCAM1, NFKB1, and TNFAIP3. In conclusion, our study has indicated the role of IL-1ß stimulation in the progression of SF-MSCs inflammation and predicted DEGs and downstream pathways.

Sympathetic skin response (SSR) in pediatric Guillain-Barré syndrome.

Introduction: In the present study, sympathetic skin response (SSR) characteristics were explored in children with Guillain-Barré syndrome (GBS) and the value of early diagnosis and prognostic evaluation in GBS complicated by autonomic dysfunction (AD) was evaluated. Methods: A total of 25 children with GBS and 30 healthy controls (HCs) were enrolled in this prospective study. SSR findings for the two groups were compared. SSR and nerve conduction study (NCS) results were compared among patients with GBS, and differences in clinical characteristics between the groups with abnormal and normal SSR were analyzed. Results: Within the GBS group, six patients (24%) required mechanical ventilation, 17 patients (66.7%) had AD, 18 patients (72%) had an abnormal SSR, and 13 patients (52%) had AD combined with SSR abnormalities. There was a statistically significant difference in SSR latency in the lower limbs between the GBS group and HCs (P < 0.05). There was no statistically significant difference between SSR and NCS results in the acute phase of GBS (P > 0.05), and there was no significant difference in the rate of AD or in Hughes functional grade at nadir between the groups with abnormal and normal SSR (P>0.05). However, there was a statistically significant difference between the results of SSR and NCS tests during the recovery phase (P = 0.003). Abnormal SSR mainly occurred in cases of the acute inflammatory demyelinating polyradiculoneuropathy (AIDP) subtype. In addition, SSR was abnormal in all pediatric GBS patients with poor prognosis 1 month after onset of symptoms. Conclusion: Two-thirds of the children with GBS have AD. SSR could be used for early diagnosis and follow-up of GBS and may also be helpful in evaluating disease severity and short-term prognosis.

A Prospective Observational Study of Children with FS-Associated Hospitalization: The Implication and Outcomes of Pathogen Detection in Cerebrospinal Fluid.

Background: Febrile seizures (FS) are a common cause of paediatric emergencies, but research on their aetiology and epidemiology are limited. The aim of this study was to investigate the prevalence of central nervous system (CNS) pathogenic infections in patients with FS-associated hospitalization. Methods: A prospective observational study was conducted in children under 16 years of age with FS-associated hospitalization. Demographic, clinical and laboratory data were recorded. Multiplex-PCR was performed on cerebrospinal fluid (CSF) samples for nine viruses, nine bacteria and one fungus. Results: A total of 119 children were enrolled between June 2021 and June 2022. Of these, 83.2% had a final diagnosis of FS (69.7%) or FS plus (13.4%). In addition, epilepsy and encephalitis/meningitis were also found in 16.8% (20/119). Seven pathogens were identified from 9 CSF samples (7.6%), including viruses (EV, EBV, HHV-6) and bacteria (H. influenzae, S. pneumoniae, M. tuberculosis, S. putrefaciens). There were no significant clinical or laboratory differences between children who tested positive or negative for pathogens in the CSF, except for the presentation of herpes pharyngitis. Children with encephalitis/meningitis had longer hospital stays compared with those diagnosed with FS at discharge; abnormal EEG findings were significantly more common in patients with epilepsy. Conclusion: FS-associated hospitalized children may have viral or bacterial intracranial infections. Pathogen testing of CSF is an important basis for timely antibiotic or antiviral therapy when clinical and laboratory findings make FS indistinguishable from other CNS disorders.

Cerebrospinal fluid neurofilament light chain predicts short-term prognosis in pediatric Guillain-Barré syndrome.

Introduction: To study cerebrospinal fluid neurofilament light chain (CSF-NfL) levels as a prognostic biomarker in pediatric Guillain-Barré syndrome (GBS). Methods: Prospective study enrolling 26 pediatric GBS patients and 48 healthy controls (HCs) from neurology units between 2017 to 2021. The CSF-NfL levels were measured by enzyme-linked immunosorbent assay. The children's disability levels were evaluated using Hughes Functional Score (HFS) at nadir, 1 month, and 6 months after onset. The receiver operating characteristic (ROC) curve derived from logistic regression (with age as a covariate) was used to assess the prognostic value of CSF-NfL on the possibility of walking aided at 1 month after symptom onset. Results: The mean CSF-NfL levels were significantly increased in GBS patients (111.76 pg/mL) as compared to that in HCs (76.82 pg/mL) (t = 6.754, p < 0.001). At follow- up, the mean CSF-NfL levels after treatment (65.69 pg/mL) declined significantly (t = 6.693, p < 0.001). CSF-NfL levels upon admission were significantly associated with the HFS at nadir (r s = 0.461, p = 0.018). Moreover, the mean CSF-NfL levels in GBS patients with poor prognosis (130.47pg/mL) were significantly higher than that in patients with good prognosis (104.87pg/mL) (t = 2.399, p = 0.025). ROC curve analysis of the predictive value of CSF-NfL levels with respect to the inability to walk unaided within 1 month showed a significant difference (area under the curve: 0.857,95% confidence interval 0.702-1.000; p = 0.006). Conclusion: CSF-NfL levels were increased in pediatric GBS patients. High CSF-NfL level predicted worse motor function, and was strongly associated with poor short-term prognosis of pediatric GBS. We propose a biomarker for early prediction of outcome in pediatric GBS, which would be applicable for clinical practice and efficacy of treatment in the future.

Endocapillary hypercellularity levels are associated with early complete remission in children with class IV lupus nephritis as the initial presentation of SLE.

BACKGROUND: Endocapillary hypercellularity (ECHC) is commonly seen in class IV lupus nephritis (LN), the most common and severe LN in children. Factors influencing early complete remission (CR) in pediatric class IV LN have been poorly described. We investigated the relationship between ECHC levels and early CR in pediatric class IV LN. METHODS: Patients with newly, simultaneously diagnosed systemic lupus erythematosus (SLE) and class IV LN by renal biopsy from 2012 to 2021 were studied. In this retrospective study, two pathologists who were blind to clinical information reviewed all pathological data retrospectively and classified glomerular lesions according to the revised criteria of the International Society of Nephrology and the Renal Pathology Society (ISN/RPS). The demographics, baseline clinical characteristics, laboratory parameters, renal histopathological findings, treatment regimen and CR at 6 months after immunosuppressive therapy were analyzed. ECHC was categorized as: > 50% (group A), 25-50% (group B) and < 25% (group C). CR was defined as absence of clinical symptoms, 24-hour urinary protein < 0.15 g, and normal levels of serum creatinine and albumin. RESULTS: Sixty-four patients were identified: 23, 15 and 26 in groups A, B and C, respectively. Group A had significantly higher levels of D-dimer, urine protein, and SLE disease activity index (SLEDAI) than groups B and C. Group C had a markedly higher estimated glomerular filtration rate (eGFR) than groups A and B. A substantially greater proportion of patients in group A had glomerular microthrombi and basement membrane thickening than in groups B and C. At 6 months post treatment, CR was achieved in 19 (82.6%), 5 (33.3%) and 11 (42.3%) in groups A, B and C, respectively (p < 0.05, group A vs groups B and C). Multiple logistic regression analysis revealed that ECHC and urine protein levels were significantly associated with CR. CONCLUSION: ECHC and urine protein levels may be valuable biomarkers for predicting early CR in pediatric class IV LN.

Association Between A-Waves and Outcome in Pediatric Guillain-Barré Syndrome.

Introduction: To examine the importance of abundant A-waves in electrophysiological classification and prognosis of pediatric Guillain-Barré Syndrome (GBS). Methods: A single-center and retrospective study enrolling 65 children-patients, aged 16 years and younger, with clinically diagnosed GBS between 2013 to 2020. Hughes grade was used to assess functional disability at nadir, 1 month, and 6 months after symptom onset. Patients were divided into 2 groups according to the presence of abundant A-waves. Clinical features and prognosis between the 2 groups were compared. Results: The distal motor latency of the median nerve in patients with GBS with A-waves (9.18 ms) was more prolonged than that of patients with GBS without A-waves (4.1 ms). An electrophysiological variant of these two groups was also statistically different (p = 0.006). The short-term prognosis of patients with AIDP with A-waves was worse than patients with AIDP without A-waves (χ2 = 5.022, p = 0.025), and univariable logistic regression analysis showed statistically significant (OR: 5.844, 95% CI 1.118-30.553; p = 0.036). Conclusion: A-waves were strongly associated with demyelination and poor short-term prognosis of AIDP in children. We proposed an electrophysiological marker for early prediction of outcome in the AIDP subtype of GBS, applicable for clinical practice and future treatment administration.

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.

Objective: This study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the potential prospects for personalized medicine. Methods: Through a multicenter collaboration in China, we analyzed the genotype-phenotype correlation and antiseizure medication (ASM) of patients with GABRG2-related epilepsy. The three-dimensional protein structure of the GABRG2 variant was modeled to predict the effect of GABRG2 missense variants using PyMOL 2.3 software. Results: In 35 patients with GABRG2 variants, 22 variants were de novo, and 18 variants were novel. The seizure onset age was ranged from 2 days after birth to 34 months (median age: 9 months). The seizure onset age was less than 1 year old in 22 patients (22/35, 62.9%). Seizure types included focal seizures (68.6%), generalized tonic-clonic seizures (60%), myoclonic seizures (14.3%), and absence seizures (11.4%). Other clinical features included fever-sensitive seizures (91.4%), cluster seizures (57.1%), and developmental delay (45.7%). Neuroimaging was abnormal in 2 patients, including dysplasia of the frontotemporal cortex and delayed myelination of white matter. Twelve patients were diagnosed with febrile seizures plus, eleven with epilepsy and developmental delay, two with Dravet syndrome, two with developmental and epileptic encephalopathy, two with focal epilepsy, two with febrile seizures, and four with unclassified epilepsy. The proportions of patients with missense variants in the extracellular region and the transmembrane region exhibiting developmental delay were 40% and 63.2%, respectively. The last follow-up age ranged from 11 months to 17 years. Seizures were controlled in 71.4% of patients, and 92% of their seizures were controlled by valproate and/or levetiracetam. Conclusion: The clinical features of GABRG2-related epilepsy included seizure onset, usually in infancy, and seizures were fever-sensitive. More than half of the patients had cluster seizures. Phenotypes of GABRG2-related epilepsy were ranged from mild febrile seizures to severe epileptic encephalopathies. Most patients with GABRG2 variants who experienced seizures had a good prognosis. Valproate and levetiracetam were effective treatments for most patients.

A Retrospective Study of Recurrent Bacterial Meningitis in Children: Etiology, Clinical Course, and Treatment.

Objectives: Recurrent bacterial meningitis (RBM) is a rare but life-threatening disease. This study aims to analyze the clinical features, potential causes, and therapeutic outcomes of RBM in children. Methods: This article retrospectively reviews the clinical characteristics, etiologies, and treatments in children with RBM hospitalized in Hebei children's hospital from 2012 to 2020. Results: A total of 10 children with RBM, five males and five females, were included in this study. The age of RBM in children spans from the neonatal stage to the childhood stage. The underlying illnesses were identified and classified as cerebrospinal fluid rhinorrhea (1 case), humoral immunodeficiency with Mondini dysplasia (1 case), common cavity deformity with cerebrospinal fluid ear leakage (1 case), Mondini malformations (2 cases), incomplete cochlear separation type I with a vestibular enlargement (2 cases), local inflammation of the sphenoid bone caused by cellulitis (1 case), congenital skull base defects (1 case), and congenital dermal sinus with intraspinal abscess (1 case). 6 patients chose targeted therapy for potential reasons. Conclusions: Congenital abnormalities or acquired injuries lead to intracranial communication with the outside world, which can quickly become a portal for bacterial invasion of the central nervous system, resulting in repeated infections.