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.

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.

[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.

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.

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.

BACKGROUND: Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) gene can lead to impaired glycosylation of α-dystroglycan, which, in turn, causes congenital muscular dystrophy (CMD). The clinical phenotypes of CMD are broad, and there are only a few reports of CMD worldwide. CASE SUMMARY: This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation. The main manifestations of the two cases were abnormal walking posture, language development delay, and abnormal development of the white matter. Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst. Both cases had compound heterozygous mutations of the B3GALNT2 gene, each containing a truncated mutation and a missense mutation, and three of the four loci had not been reported. Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature. Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100% of the cases had nervous system involvement. Head magnetic resonance imaging often showed abnormal manifestations, and more than half of the children had eye and muscle involvement; some of the gene-related symptoms were self-healing. CONCLUSION: B3GALNT2 gene can be used as one of the candidate genes for screening CMD, cognitive development retardation, epilepsy, and multiple brain developmental malformations in infants.

Responses of Sinus Membrane and Antral Pseudocyst Following Lateral Window Sinus Augmentation with Bone Grafting: A Retrospective Study.

PURPOSE: To investigate the influence of lateral window sinus augmentation on sinus physiology, including sinus membrane thickness and the outcome of antral pseudocysts. MATERIALS AND METHODS: This retrospective study was performed by reviewing all lateral window sinus augmentation procedures, which were done between the years 2013 and 2015. Each enrolled patient had CBCT images preoperatively (T0), immediately postoperatively (T1), and 6 months postoperatively (T2). The sinus membrane thickness, pseudocyst dimensions, and intraoperative perforation were evaluated. Patient-related factors such as age and sex that could influence the mucosal properties were also analyzed. RESULTS: Based on established inclusion criteria, 306 patients with 320 sinuses were included in this study. The overall mean thickness of the sinus membrane (T0) was 1.30 ± 1.08 mm, and membrane thickening (> 2 mm) was observed in 22.19% of the sinuses. Preexisting pseudocysts were identified in 24 sinuses (7.50%), most of which remained unchanged or disappeared after 6 months. The intraoperative membrane perforation rate was lowest (1.96%) when the membrane thickness was 1.0 to 1.5 mm, and the perforation rate was increased in patients with thickened (> 2 mm) or thinned (≤ 1 mm) membrane. Membranes swelled immediately after operation (T1 vs T0, P < .01) and gradually recovered at 6 months. No significant change in membrane thickness was shown after the sinus augmentation procedure in the perforation group and pseudocyst group. The mean thickness of the sinus membrane at T0 and T1 was significantly higher for male subjects (P < .01). CONCLUSION: Lateral window sinus augmentation has little or no impact on sinus membrane thickness and antral pseudocysts after a 6-month healing period, except for a transient mild membrane swelling. Thickened and thinned membrane were risk factors for intraoperative perforation. Small-sized perforation and pseudocysts might not contraindicate sinus augmentation from the standpoint of the surgical impact on the sinus membrane.

Diagnostic accuracy of a dynamically increased red blood cell distribution width in very low birth weight infants with serious bacterial infection.

OBJECTIVE: Serious bacterial infection (SBI) remains an important cause of morbidity and mortality in preterm infants. The objective of this study was to evaluate the dynamically increased value of the red cell distribution width (RDW) in the diagnosis of SBI. METHODS: This retrospective study enrolled 334 preterm infants with birth weight less than 1500 g. The initial RDW and the maximum value of RDW during hospitalization were extracted from the MIMIC-III database (version 1.4). Infants were categorized into four groups according to baseline RDW value and ΔRDW (ΔRDW = RDW at maximum- RDW at baseline). Logistic regression analysis was used to assess the risk of developing SBI in each group. A receiver operating characteristic (ROC) curve analysis was used to evaluate the diagnostic value of RDW at baseline alone, ΔRDW alone, and in combination. RESULTS: Infants with increased RDW at baseline (> 17%) and ΔRDW > 2% exhibited the highest risk of developing SBI, whereas the patients with normal RDW level at baseline (≤ 17%) and ΔRDW≤2% (the reference group) had the lowest risk. This association remained unaltered even after adjustment in multivariable models. Basing on ROC curve analysis, the area under the curve predicted by the combination of RDW at baseline and ΔRDW for SBI was 0.81 (95% CI, 0.76-0.87). Sensitivity and specificity were 78.16 and 72.47% respectively. CONCLUSIONS: We observed that combination of elevated RDW at baseline and dynamic increases during hospitalization is significantly associated with SBI. Therefore, that combination could be a promising independent diagnostic indicator of SBI in newborns.

Complete Genome Sequence Analysis of Echovirus 18 Associated with Aseptic Meningitis in Hebei Province, China, in 2015.

Echovirus 18 is a member of the genus Enterovirus, family Picornaviridae, which can cause meningitis in children. Here, we report the echovirus 18 complete genome sequence, which was isolated from the cerebrospinal fluid of a child with aseptic meningitis in Hebei Province, China.

[Association of IL-1ß-511T gene rs16944 polymorphism with febrile seizures].

OBJECTIVE: Despite substantial research efforts worldwide, the role of inflammatory cytokine IL-1ß in the onset of febrile seizures (FS) remains controversial. The aim of this study was to assess the relationship between rs16944 polymorphism of the IL-1ß-511T gene and occurrence of simple FS in a sample of Han children in northern China. METHODS: The IL-1ß-511T gene rs16944 was genotyped by SNaPshot SNP technique in 141 FS children and 130 healthy control subjects. The genotypic and allelic frequencies in the two groups were comparatively analyzed. RESULTS: There were no significant differences in genotypic and allelic frequencies of rs16944 polymorphism of the IL-1ß-511T gene between FS patients and control subjects (P>0.05).When the clinical data on A/A, A/G and G/G genotypes of the rs16944 polymorphism in FS patients, there was statistically significant difference in age of first onset (χ(2)=19.491, P<0.01), temperature of first onset (χ(2)=9.317, P<0.05) and family history of FS (χ(2)=26.798, P<0.01). CONCLUSIONS: There is no association between rs16944 polymorphism of the IL-1ß-511T gene and the incidence of FS in Han children in Northern China. However, the differences in genotypes of this polymorphism might be associated with pathogenesis and prognosis of simple FS in the population studied.

[Changes of body weight and galanin in epileptic children treated with topiramate].

OBJECTIVE: Topiramate is a new broad-spectrum anti-epileptic drug. Decreased body weight and appetite are common side effects of topiramate. The side effect affects the growth and development in children greatly. Little is known about the mechanisms of topiramate-induced weight loss and decreased appetite in children with epilepsy in China and abroad. galanin is one of factors that affect appetite. It is a neuroendocrine peptide and play an important role in the control of appetite and body weight in the mechanism of hormone release. The purpose of this study was to explore the mechanism of topiramate-induced weight loss in children with epilepsy and the relation of weight loss with change of galanin, thereby to provide evidences for improvement of quality of life, compliance to treatment and reduce side effects of growth and development in children with epilepsy. METHODS: Totally 61 patients with especial epilepsy were enrolled into this study and the disease was defined by clinical manifestations and electroencephalography (EEG). Among them 32 cases had generalized seizures and 29 had local seizures. Sixteen normal children were enrolled as control group. The patients' age ranged from 0.5 to 14 (4.76 +/- 4.05) years and the patients were instructed to take 0.5 - 1 mg/kg of topiramate per day, with 0.5 - 1 mg/kg every 3 - 5 d increased to maximum of 3 - 8 mg/kg per day. Patients continued receiving the doses for 4 months. All patients' serum galanin levels and body height and weight and hepatic function were detected before and after antiepileptic drugs treatment. The galanin was detected by using radioimmunoassay. RESULTS: After treatment with topiramate (61 cases) for 4 months, plasma galanin [(22.01 +/- 8.12) pg/ml] declined as compared with baseline [(26.56 +/- 9.35) pg/ml, t = 2.85, P < 0.01] in children with epilepsy. Twenty-two of 61 patients lost weight, their plasma galanin concentration was significantly lower [(26.51 +/- 10.00) pg/ml vs. (20.45 +/- 8.09) pg/ml, t = 2.91, P < 0.01], but there was no significant change in the weight-gained patients (39/61) and control group (n = 16). In children with epilepsy, the mean value of body weight decreased as compared with the pre-treatment values, but the difference was not significant; however, the body-mass index (BMI) was significantly lower than that obtained before treatment (t = 8.628, P < 0.01). Eighteen of 22 patients who lost weight had decreased appetite, but only five of 39 patients who gained weight showed decreased appetite (chi(2) = 28.50, P < 0.001). The mean value of plasma galanin declined after treatment in patients (23 cases) with decreased appetite [(18.35 +/- 7.80) pg/ml vs. (27.28 +/- 6.90) pg/ml, t = 4.84, P < 0.001]; while plasma galanin did not change significantly after treatment in patients (38 cases) without decreased appetite [(24.23 +/- 7.66) pg/ml vs. (26.12 +/- 5.49) pg/ml, t = 1.04, P > 0.05]. CONCLUSION: Topiramate treatment may lower the body weight and reduce appetite in part of children with epilepsy which may be mediated by the reduced plasma galanin level.

[Relationship between idiopathic epilepsy and sleep macrostructure in children].

OBJECTIVE: To evaluate the relationship between epilepsy and sleep macrostructure in children. METHODS: Totally 31 children with idiopathic epilepsy aged 6-13 (mean 9.5) years were enrolled in this study, including 18 with idiopathic focal epilepsy and 13 with idiopathic generalized epilepsy. Sixteen age-and gender-matched children were also included as the control group. Polysomnogram (PSG) was recorded in all the children for analysis. RESULTS: Children with idiopathic partial epilepsy had increased total recording time (P<0.05) and those with idiopathic generalized epilepsy exhibited reduced non-rapid eye movement sleep in comparison with the control group. The efficiency of the different phases in the total sleep was also lowered in children with idiopathic generalized epilepsy (P<0.05), whose total sleep time had also been significantly reduced (P<0.05). CONCLUSIONS: Significant changes occur in the sleep macrostrcture of children with idiopathic epilepsy. Children with idiopathic generalized epilepsy presents poorer sleep quality, whereas those with idiopathic partial epilepsy tend to require excessive time for sleep.