Objective:To explore the clinical phenotypic features and genetic variation characteristics of children with epilepsy-aphasia spectrum due to GRIN2A gene variants confirmed by second-generation sequencing. Methods:The clinical data of 5 children with epilepsy-aphasia spectrum with epileptic onset diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, from February 2019 to November 2022 were retrospectively analyzed. Whole-exome genome sequencing of the probands using a second-generation sequencing method confirmed that all 5 cases were children with the GRIN2A gene variant. The characteristics of the GRIN2A gene variants were analyzed. Results:Among the 5 children diagnosed with epileptic aphasia spectrum due to GRIN2A gene variants, the male-to-female ratio was 4∶1, and the age range of onset was 1.5-4.4 years. The clinical phenotype included seizures in all cases, language and intellectual developmental deficits in 4 cases, and attention deficit hyperactivity disorder in 3 cases. The seizures were manifested as focal seizures or secondary generalized seizures, and were effectively controlled with antiepileptic drugs. Among the 5 children, gene variant of case 1 was originated from a paternal heterozygous variant, and cases 2-5 had de novo variants, which were c.2107C>T (p.Gln703 *) nonsense variant, c.2284G>A (p.Gly762Arg) missense variant, c.2197del (p.Ala733Glnfs *3) shifted coding variant, c.2511G>A (p.Trp837 *) nonsense variant, and c.1651+1G>C shear site variant, respectively. None of the 5 loci were reported in the literature. Conclusions:Epilepsy-aphasia spectrum is an epilepsy syndrome with a complex onset, and may have different phenotypes at different genetic variant loci, with focal seizures or secondary generalized seizures, which can be effectively controlled with anti-seizure medication. The GRIN2A gene variant is the genetic etiology of the epileptic aphasia spectrum.

OBJECTIVE: To analyze the research status and developmental trend of open-access patents at home and abroad of radioactive decontamination technology for human body surface. METHODS: The basic information of open-access patents related to human body radioactive decontamination was searched and collected from the IncoPat Global Patent Database. Based on patent analysis method, the number of patent application, legal status, patent types, application trends, applicants, functional application fields, and citations were analyzed and compared, with focus on their research and development capabilities in domestic and foreign patent application status.RESULTS: A total of 981 patents of radioactive decontamination technology for human body surface were retrieved. Among them, 144 were domestic(14.7%) and 837 were from abroad(85.3%). After merge, 207 patents were confirmed, 88 were from domestic(42.5%) and 119 from abroad(57.5%). The top 5 countries with the most patents were China, Japan, the United States, France and Germany with patent amount of 88, 47, 20, 14 and 13 respectively,accounting for 87.9%(182/207) of all patents. Japan had a large number of patents with a stable growth; France and Germany started patent research very early; the United States focused on technology inheritance; Chinese patent applications are developing rapidly, followed by South Korea, and Russia had few open-access patents. Chinese patent applicants were mainly from Beijing with major enterprises and government organizations. Patents in China had few patent family, foreign patents had a wide distribution, 35.3% of which had more than five of the same family. The proportions of valid patents, utility model patents and patents of integrated device & technology in China were higher than that from abroad(35.2% vs 17.6%, 53.4% vs 3.4%, 62.5% vs 26.9%, P<0.01). The proportion of domestic patents citing other patents in China was lower than that from abroad(13.6% vs 52.1%, P<0.01), but the proportion of Chinese patents cited by other patents showed no statistical significance compared with that of abroad(27.3% vs 39.5%, P>0.05). CONCLUSION: Patents of radioactive decontamination technology for human body surface in China have developed rapidly in recent years. Patent emphasis is placed on integration and multifunctionality. However, the awareness of patent protection and regional layout is not strong enough, and the technical level needs to be improved. It is suggested to propose strategic deployment as soon as possible and strengthen technological research, development and innovation.

OBJECTIVE: To investigate the effect of health education in the treatment of pneumoconiosis patients with bronchoalveoar lavage( BAL) during perioperative period. METHODS: Ninety-six pneumoconiosis patients treated with BAL in hospital were divided into observation group and control group( 48 cases in each group). The patients in the control group were given routine perioperative health education, and the patients in the observation group implemented perioperative health education in accordance with the health education pathway. Adverse reactions in hospital were collected,and the awareness of perioperative health knowledge of BAL was surveyed. RESULTS: Before implement of the health education pathway,there was no difference( P > 0. 05) in the health knowledge between the 2 groups. After implementation of the health education pathway,the awareness of health knowledge of observation group and control group were higher than that of the same group before implementation of the health education pathway( P < 0. 01). The awareness of 15 items of health knowledge was higher( P < 0. 05) and the incidences of intraoperative cough and postoperative low fever were lower in the observation group than in the control group( 4. 2% vs 25. 0%,2. 1% vs 16. 7%,P < 0. 05).CONCLUSION: Executing effective healthy education pathway in perioperative BAL is helpful to improve the knowledge of disease prevention and control in pneumoconiosis patients,and reduce the occurrence of adverse reactions during BAL.

Recent studies have suggested that long-term application of anti-angiogenic drugs may impair oral mucosal wound healing. This study investigated the effect of sunitinib on oral mucosal healing impairment in mice and the therapeutic potential of Bifidobacterium breve (B. breve). A mouse hard palate mucosal defect model was used to investigate the influence of sunitinib and/or zoledronate on wound healing. The volume and density of the bone under the mucosal defect were assessed by micro-computed tomography (micro-CT). Inflammatory factors were detected by protein microarray analysis and enzyme-linked immunosorbent assay (ELISA). The senescence and biological functions were tested in oral mucosal stem cells (OMSCs) treated with sunitinib. Ligated loop experiments were used to investigate the effect of oral B. breve. Neutralizing antibody for interleukin-10 (IL-10) was used to prove the critical role of IL-10 in the pro-healing process derived from B. breve. Results showed that sunitinib caused oral mucosal wound healing impairment in mice. In vitro, sunitinib induced cellular senescence in OMSCs and affected biological functions such as proliferation, migration, and differentiation. Oral administration of B. breve reduced oral mucosal inflammation and promoted wound healing via intestinal dendritic cells (DCs)-derived IL-10. IL-10 reversed cellular senescence caused by sunitinib in OMSCs, and IL-10 neutralizing antibody blocked the ameliorative effect of B. breve on oral mucosal wound healing under sunitinib treatment conditions. In conclusion, sunitinib induces cellular senescence in OMSCs and causes oral mucosal wound healing impairment and oral administration of B. breve could improve wound healing impairment via intestinal DCs-derived IL-10.
Animals ; Mice ; Interleukin-10 ; Bifidobacterium breve ; Up-Regulation ; Angiogenesis Inhibitors ; Sunitinib ; X-Ray Microtomography ; Administration, Oral ; Wound Healing ; Antibodies, Neutralizing