[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children]. / 16p11.2å¾®ç¼ºå¤±ç›¸å ³å„¿ç«¥ç™«ç—«çš„ä¸´åºŠè¡¨åž‹ä¸Žé—ä¼ å­¦ç‰¹å¾åˆ†æž.

OBJECTIVES: To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children. METHODS: The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed. RESULTS: The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children. CONCLUSIONS: 16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.

Clinical and electroencephalogram characteristics and treatment outcomes in children with benign epilepsy and centrotemporal spikes.

BACKGROUND: Epilepsy is a syndrome characterized by transient, rigid, paroxysmal, and repetitive central nervous system dysfunction. Prevention, control, and improvement of cognitive and behavioral dysfunction are of great significance for improving the patients' intellectual development and quality of life. Electroencephalograms (EEG) can predict an accelerated decline in cognitive function. AIM: To determine the clinical and EEG characteristics and treatment results of benign epilepsy in spiking children. METHODS: A total of 106 cases of benign epilepsy in children with myocardial spines treated at our hospital from January 2017 to January 2020 were selected. Differences in clinical data and EGG characteristics between treatment-effective/-ineffective patients were analyzed, and children's intellectual development before and after treatment evaluated using the Gesell Development Diagnostic Scale. RESULTS: EEG showed that the discharge proportion in the awake and sleep periods was 66.04%, and the peak/peak discharge was mainly single-sided, accounting for 81.13%, while the discharge generalization accounted for 31.13%. There was no significant difference in any of these variables between sexes and ages (P > 0.05). The proportion of patients with early onset (< 5 years old) and seizure frequency > 3 times/half a year was 40.00% and 60.00%, respectively; the incidence rate and seizure frequency in the younger age group (< 5 years old) were significantly higher than those in the treatment-effective group (P < 0.05), while the discharge index was significantly lower than that in the treatment-effective group (P < 0.05). The discharge index was negatively correlated with fine motor skill and language development (r = -0.274 and -0.247, respectively; P < 0.05), but not with the rest (P > 0.05). Logistic regression analysis showed that low age onset (< 5 years old) and seizure frequency were the factors affecting ineffective-treatment of benign epilepsy in children (odds ratio = 11.304 and 5.784, respectively; P < 0.05). The discharge index of the responsive group after treatment was significantly lower than that of the unresponsive group (P < 0.05). However, there was no significant difference between groups after treatment in gross and fine motor skills, adaptability, language, and personal social development (P > 0.05). CONCLUSION: The EEG of children with benign epilepsy due to spinal wave in central time zone has characteristic changes, and the therapeutic effect is influenced by age of onset and attack frequency.

[Clinical features of coronavirus disease 2019 in children aged <18 years in Jiangxi, China: an analysis of 23 cases].

OBJECTIVE: To study the clinical features of coronavirus disease 2019 (COVID-19) in children aged <18 years. METHODS: A retrospective analysis was performed from the medical data of 23 children, aged from 3 months to 17 years and 8 months, who were diagnosed with COVID-19 in Jiangxi, China from January 21 to February 29, 2020. RESULTS: Of the 23 children with COVID-19, 17 had family aggregation. Three children (13%) had asymptomatic infection, 6 (26%) had mild type, and 14 (61%) had common type. Among these 23 children, 16 (70%) had fever, 11 (48%) had cough, 8 (35%) had fever and cough, and 8 (35%) had wet rales in the lungs. The period from disease onset or the first nucleic acid-positive detection of SARS-CoV-2 to the virus nucleic acid negative conversion was 6-24 days (median 12 days). Of the 23 children, 3 had a reduction in total leukocyte count, 2 had a reduction in lymphocytes, 2 had an increase in C-reactive protein, and 2 had an increase in D-dimer. Abnormal pulmonary CT findings were observed in 12 children, among whom 9 had patchy ground-glass opacities in both lungs. All 23 children received antiviral therapy and were recovered. CONCLUSIONS: COVID-19 in children aged <18 years often occurs with family aggregation, with no specific clinical manifestation and laboratory examination results. Most of these children have mild symptoms and a good prognosis. Epidemiological history is of particular importance in the diagnosis of COVID-19 in children aged <18 years.

[Clinical effect of carvedilol in treatment of children with severe hand-foot-mouth disease caused by enterovirus 71 infection].

OBJECTIVE: To study the clinical effect of carvedilol in the treatment of children with severe hand-foot-mouth disease (HFMD) caused by enterovirus 71 (EV71) infection. METHODS: A retrospective analysis was performed for the clinical data of 86 children with severe HFMD caused by EV71 infection who were admitted to the hospital from April 2016 to August 2017. According to whether carvedilol was used, the children were divided into conventional treatment group with 51 children and carvedilol treatment group with 35 children. A total of 56 healthy children who underwent physical examination at the outpatient service during the same period were enrolled as the control group. The two treatment groups were compared in terms of clinical features and levels of catecholamines (norepinephrine, adrenaline and dopamine), and the levels of catecholamines were compared between these two treatment groups and the control group. RESULTS: Before treatment, the conventional treatment group and the carvedilol treatment group had significantly higher levels of norepinephrine and adrenaline than the control group (P<0.05). After treatment, both the conventional treatment group and the carvedilol treatment group had significant reductions in norepinephrine, adrenaline, blood glucose, systolic pressure, diastolic pressure, heart rate, body temperature and leukocyte count (P<0.05). Compared with the conventional treatment group, the carvedilol treatment group had significantly lower dopamine level, blood glucose, heart rate and respiratory rate after treatment (P<0.05). CONCLUSIONS: Changes in norepinephrine and adrenaline might be involved in the pathogenesis of severe HFMD caused by EV71 infection. Carvedilol, in addition to the conventional treatment, can improve respiration, heart rate and blood glucose in children with severe HFMD caused by EV71 infection.