1.Expression of STAT3 in children with focal cortical dysplasias type IIIa
Jiangya WANG ; Wenling LI ; Jiang WU ; Yan LOU
Journal of Clinical Pediatrics 2014;(9):859-862
Objectives To detect the expression of STAT3 in children with FCD (focal cortical dysplasias) type IIIa. Methods The expression of STAT3 and P-STAT3 (ser727) were determined in temporal lobe specimens from 26 children with FCD type IIIa and from 5 normal control by immunohistochemistry, immunolfuorescence and Western blot. Results The expression of P-STAT3 (ser727) was obviously higher in FCD type IIIa than in control group. P-STAT3 (ser727) was located mainly in the nucleus of astrocytes. Conclusions Activated STAT3 might contribute to the patholgenesis of FCD type IIIa by mediating proliferation of astrocytes.
2.Neuropathological findings in 38 children with temporal lobe intractable epilepsy
Jiangya WANG ; Wenling LI ; Jiang WU ; Huanfen ZHAO ; Jinli MAO ; Yan LOU
Journal of Clinical Pediatrics 2015;(3):265-268
ObjectivesTo explore the neuropathological characteristics of children with temporal intractable epilepsy. MethodsA retrospective analysis of the pathological characteristics was conducted in 38 children who underwent epilepsy surgery from December 2011 to December 2013.ResultsAmong 38 patients, aged 2.5-14 years, 21 boys and 17 girls, 21 cases had focal cortical dysplasia (FCD), 1 case had FCDⅠa, 2 cases had FCDⅠb, 1 case had FCDⅡa, 3 cases had FCDⅡb, 5 cases had CDⅢa, 1 case had FCDⅢb, 1 case had FCDⅢc, 6 cases had FCDⅢd. Three cases had microdysgenesis, 3 cases had simple hippocampal sclerosis, 7 cases had neoplasms, 5 cases had dysembryoplastic neuroepithelial tumor, 2 cases had astroglioma, 2 cases had encephalitis, 2 cases had arachnoid cyst. ConclusionsFCD is the most common form that causes temporal lobe intractable ep-ilepsy in children. FCDIIId is the most common subtype in FCD.
3.Genetic analysis of a case of infant spinal muscular atrophy type 1c
Yuping LIU ; Meng SUN ; Ran ZHOU ; Jiangya WANG ; Dandan WANG ; Mengmeng LI ; Yaying CHENG
Clinical Medicine of China 2022;38(6):554-558
Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.
4.Risk factors analysis of recurrence of febrile seizures within 24 hours
Meng SUN ; Jiangya WANG ; Ran ZHOU ; Yaying CHENG
Chinese Pediatric Emergency Medicine 2023;30(2):122-125
Objective:To investigate the risk factors of recurrence of febrile seizures within 24 hours, so as to provide clinical evidence for early identification of children with risk factors and taking interventions.Methods:A total of 384 children with febrile seizures admitted to the Department of Pediatrics at Hebei General Hospital from June 2019 to June 2021 were selected as the study subjects, and were divided into single seizure group and recurrent seizures group.The clinical data of two groups and the risk factors of recurrent seizures were analyzed retrospectively.Results:A total of 384 children, aging from six months to five years, were diagnosed with febrile seizures.There were 296 cases in the single seizure group and 88 cases in the recurrent seizures group.First seizure, the age of the first sezures, temperature, duration of seizure ≥15 minutes, positive family history and C-reactive protein levels showed statistically significant differences between two groups(all P<0.05). Logistic regression analysis showed that non-first seizure( OR=2.085, 95% CI 1.232-3.529, P=0.006), the age of first seizure( OR=0.970, 95% CI 0.948-0.993, P=0.010), duration of seizure ≥15 minutes( OR=3.587, 95% CI 1.497-8.596, P=0.004) and positive family history( OR=1.892, 95% CI 1.126-3.180, P=0.016) were risk factors of recurrence of febrile seizures within 24 hours.The ROC curve analysis showed that the combination of four risk factors had a higher predictive value, and the area under curve was 0.974. Conclusion:Non-first seizure, the age of first seizure, cluration of seizure ≥15 minutes and positive family history are the risk factors of recurrence of febrile seizures within 24 hours.Children with four risk factors are more likely to have recurrent seizure, and could be used as an indicator for individualized prediction.