Objective To evaluate the role of hypoxia inducible factor?1α ( HIF?1α) in reduction of apoptosis in cortical neurons of rats by sevoflurane preconditioning and the relationship with Slit2∕Robo signaling pathway. Methods Primary cortical neurons obtained from neonatal Sprague?Dawley rats were seeded in 6?well (2 ml∕well) or 96?well plates (100 μl∕well) at a density of 1×106∕ml, and randomly divided into 4 groups ( n=24 each ) using a random number table: control group ( C group ) , anoxia?reoxygenation ( A∕R ) group, sevoflurane preconditioning group ( SP group ) and HIF?1α inhibitor 2?methoxyestradiol group ( H group ) . The neurons were subjected to O2?glucose deprivation for 90 min followed by restoration of O2?glucose supply for 24 h. In group SP, the neurons were exposed to 2%sevoflurane for 2 h followed by 5 min washout with phosphate buffered saline for 3 times, and then sevoflurane preconditioning was performed immediately. In group H, sevoflurane preconditioning was performed with 5μmol∕L 2?methoxyestradiol at 72 h of incubation. The apoptosis in neurons was assessed using AnnexinⅤ?FITC∕PI assay, and apoptosis rate ( AR) was calculated. The amount of lactic dehydrogenase ( LDH) released was measured using colorimetric method. The expression of Slit2, Robo1 and Robo4 mRNA and protein was detected by fluorescent quantitative real?time polymerase chain reaction or Western blot. Results Compared with group C, the amount of LDH released and AR were significantly increased, Silt2 and Robo1 mRNA and protein expression was up?regulated, and no significant change was found in Robo4 mRNA and protein expression in A∕R group. Compared with group A∕R, the amount of LDH released and AR were significantly decreased in SP and H groups, and Silt2 and Robo1 mRNA and protein expression was up?regulated, and no significant change was found in Robo4 mRNA and protein expression in SP group. Compared with group SP, the amount of LDH released and AR were significantly increased, and Silt2 and Robo1 mRNA and protein expression was down?regulated in H group. Conclusion HIF?1α mediates reduction of apoptosis in cortical neurons of rats by sevoflurane preconditioning, and the mechanism is associated with Slit2∕Robo1 signaling pathway, but not with Slit2∕Robo4 signaling pathway.

Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.

Objective:To explore the effect of nurse-led outpatient myopia education model in the prevention and control of myopia in children and adolescents.Methods:From July to September 2021, convenience sampling was used to select children who were treated in the Ophthalmology Clinic of Beijing Tongren Hospital and their parents as the research subject. The subjects were divided into the control group and the experimental group according to the date of visit, with 272 children and 272 parents in each group. The subjects in the experimental group were managed by the nurse-led outpatient myopia education model, and the control group received the routine medical treatment model. The myopia knowledge, eye-use habit knowledge, compliance of the parents of the two groups, and eye-use behavior scores of the two groups of children were compared before and after the intervention. In each group, 128 children who were matched for gender and age were selected, and the right eye was used as the research eye to observe the baseline, changes of diopter and axial after half a year.Results:After six months of intervention, the parents' myopia knowledge, eye-use habit knowledge, compliance scores of prevention and control methods, and children's eye-use behavior scores in the experimental group were higher than those in the control group, and the differences were statistically significant ( P<0.05) . The spherical equivalent increase was -0.13 (-0.34, 0.13) D, and the axial growth was 0.16 (0.09, 0.24) mm in the experimental group, respectively -0.25 (-0.50, -0.25) D and 0.23 (0.18, 0.26) mm in the control group, and the differences between groups were statistically significant ( P<0.05) . Conclusions:The nurse-led outpatient myopia education model applied to the prevention and control of myopia in children and adolescents can effectively improve the cognition of myopia prevention and control of parents, the eye-use behavior of children and adolescents, and has a good effect on delaying the progression of myopia.

Objective:To investigate the knowledge level, compliance, attitude and demand of parents of myopic children regarding prevention and control of myopia.Methods:This study was a cross-sectional study. Using the convenient sampling method, a total of 642 children and their parents who visited the ophthalmology clinic of Beijing Tongren Hospital, Capital Medical University from June to September 2021 were selected as the research objects. They were investigated with Self-made Questionnaire on Cognitive Behavior and Demand for Myopia Prevention and Control. A total of 642 questionnaires were sent out in this study, and 638 were effectively received with effective recovery of 99.38% (638/642) .Results:The scores of knowledge, behavior and attitude of 638 parents in the cognitive behavior questionnaire for myopia prevention and control were 13 (11, 15) , 7 (6, 8) , 8 (8, 9) , respectively. 78.68% (502/638) of parents of myopic children thought that they were in great need of myopia prevention and control knowledge. 52.66% (336/638) of parents of myopic children preferred to obtain knowledge about prevention and control of myopia through face-to-face explanation by medical personnel.Conclusions:Parents of myopia children have poor knowledge of myopia prevention and control, and their compliance with prevention and control is at a moderate level. Most parents have a positive attitude towards myopia prevention and control, hoping to receive a reasonable and efficient new model of myopia prevention and control health education to improve their knowledge level, and to cooperate with medical institutions, schools, and the government to take corresponding myopia prevention and control intervention measures to reduce the incidence of high myopia and improve the visual health of myopia children.

Objective:To investigate the clinical features, imaging findings and prognosis of children with overlapping syndrome of myelin oligodendrocyte glycoprotein (MOG) antibody disease and anti-N-methyl-D aspartate receptor (NMDAR) encephalitis (MNOS).Methods:The clinical manifestations, immunological antibodies in blood and cerebrospinal fluid, cranial image, treatment and follow-up of 11 patients diagnosed as MNOS in the Department of Neurology, Beijing Children′s Hospital from January 2011 to April 2019 were analyzed retrospectively.Results:A total of 11 patients, including 4 males and 7 females were analyzed, the age of onset was (10.4±2.3) years. A total of 29 episodes occurred in 11 children. At the last follow-up, 8 cases showed relapsed remission course, the interval of recurrence was 3 to 60 months. The onset symptoms of 11 patients included convulsions (10 cases), lethargy (6 cases), psychosis (6 cases). Among 29 episodes, the common symptoms were convulsions (16 episodes), psychosis (13 episodes),and lethargy (10 episodes). According to the diagnostic criteria of anti-NMDAR encephalitis and MOG-antibody disease, 29 episodes were divided into three phenotypes, including anti-NMDAR encephalitis(4 episodes), MOG-antibody diseases (10 episodes) and overlapping types (15 episodes).Twenty-seven times of acute stage cranial magnetic resonance imaging (MRI) were available, common lesions included cortical focus (22 times), subcortical white matter (7 times), brainstem (9 times). All patients were sensitive to first-line immunotherapy. Eight patients had recurrence during glucocorticoid reduction, 6 of them were treated with additional second-line immunosuppressive therapy, including cyclophosphamide (1 case) and mycophenolate mofetil (5 cases). The follow-up time of patients were 5-99 months. At the last follow-up, all patients were in remission, the pediatric cerebral performance category (PCPC) score was 1 (10 cases) and 2 (1 cases).Conclusions:MNOS mainly affects older children. In the period of acute episodes, convulsions and psychosis are common. The cranial MRI showed extensive brain involvement and mainly in the cortex. The recurrence rates of MNOS are relatively high, patients are sensitive to first-line immunotherapy. No significant neurological dysfunction was left in the remission stage.