[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 characteristics of 276 hospitalized patients with coronavirus disease 2019 in Zengdu District, Hubei Province: a single-center descriptive study.

BACKGROUND: We aimed to report the epidemiological and clinical characteristics of hospitalized patients with coronavirus disease-19 (COVID-19) in Zengdu District, Hubei Province, China. METHODS: Clinical data on COVID-19 inpatients in Zengdu Hospital from January 27 to March 11, 2020 were collected; this is a community hospital in an area surrounding Wuhan and supported by volunteer doctors. All hospitalized patients with COVID-19 were included in this study. The epidemiological findings, clinical features, laboratory findings, radiologic manifestations, and clinical outcomes of these patients were analyzed. The patients were followed up for clinical outcomes until March 22, 2020. Severe COVID-19 cases include severe and critical cases diagnosed according to the seventh edition of China's COVID-19 diagnostic guidelines. Severe and critical COVID-19 cases were diagnosed according to the seventh edition of China's COVID-19 diagnostic guidelines. RESULTS: All hospitalized COVID-19 patients, 276 (median age: 51.0 years), were enrolled, including 262 non-severe and 14 severe patients. The proportion of patients aged over 60 years was higher in the severe group (78.6%) than in the non-severe group (18.7%, p < 0.01). Approximately a quarter of the patients (24.6%) had at least one comorbidity, such as hypertension, diabetes, or cancer, and the proportion of patients with comorbidities was higher in the severe group (85.7%) than in the non-severe group (21.4%, p < 0.01). Common symptoms included fever (82.2% [227/276]) and cough (78.0% [218/276]). 38.4% (106/276) of the patients had a fever at the time of admission. Most patients (94.9% [204/276]) were cured and discharged; 3.6% (10/276) deteriorated to a critical condition and were transferred to another hospital. The median COVID-19 treatment duration and hospital stay were 14.0 and 18.0 days, respectively. CONCLUSIONS: Most of the COVID-19 patients in Zengdu had mild disease. Older patients with underlying diseases were at a higher risk of progression to severe disease. The length of hospital-stay and antiviral treatment duration for COVID-19 were slightly longer than those in Wuhan. This work will contribute toward an understanding of COVID-19 characteristics in the areas around the core COVID-19 outbreak region and serve as a reference for decision-making for epidemic prevention and control in similar areas.

Protective Effects of Sweroside on IL-1ß-Induced Inflammation in Rat Articular Chondrocytes Through Suppression of NF-κB and mTORC1 Signaling Pathway.

Sweroside (SW), as a bioactive herbal ingredient, has anti-inflammatory effects. Protective effects of SW on IL-1ß-stimulated articular chondrocytes, however, has not been fully understood. This study was to explore the anti-inflammatory effects and further to investigate the possible mechanism underlying SW effect on IL-1ß-stimulated rat articular chondrocytes. Rat articular chondrocytes were cultured with or without SW for 1 h, and then stimulated with IL-1ß for 24 h. ELISA analysis was used to measure the production of NO and PGE2. Western blot was to detect the expression of iNOS and COX-2. Furthermore, the mRNA expression of MMP-1, MMP3, MMP13, and ADAMTS-5 were measured by q-PCR. These results demonstrated that SW significantly inhibited IL-1ß-induced NO and PGE2 production, as well as MMP-1, MMP3, MMP13, and ADAMTS-5 mRNA expression. Moreover, SW also suppressed IL-1ß-induced NF-κB activation and iκ-B degradation, S6K1 and S6 phosphorylation. In conclusion, these results strongly demonstrated that the anti-inflammatory activity of SW is in part mediated by suppressing NF-κB and mTORC1 signaling, which was expected to be a promising drug target of osteoarthritis therapy.