Objective:To study the effect of Mg 2+ on glutamate and energy metabolites during focal cerebral ischemia and reperfusion in rats. Methods: Twelve male Wistar rats were divided into 2 groups(n=6):magnesium sulfate(100 mg/kg, i.p.) group and saline group.Cerebral ischemia was produced by occlusion of middle cerebral artery with a nylon thread for 60 min and followed by 60 min reperfusion.Microdialysis probes were stereotaxically implanted into the cortex; dialysates were collected every 15 min to determine the concentrations of glucose, lactic acid and glutamate. Results: There was a dynamic decrease of glucose and an increase of lactic acid and glutamate during ischemia and reperfusion in saline group.Glucose decreased slightly in magnesium sulfate group during ischemia and recovered to normal rapidly during reperfusion. The lactic acid levels in magnesium sulfate group were lower than that in saline group during early stage of ischemia(0-15 min) and reperfusion.There were significant attenuation in the elevation of glutamate during ischemia and reperfusion when magnesium sulfate was administered and recovered to normal after 30 min of reperfusion. Conclusion: The preservation of cellular energy metabolism,the decrease of lactacidosis and attenuation of glutamate level during ischemia and reperfusion may contribute to the neuroprotective effects of Mg 2+ .

Objective: To study the clinical characteristics of antiepileptic drug discontinuation after seizure remission in patients with tuberous sclerosis (TS)-induced epilepsy. Methods: Of 98 epilepsy patients with TS,15 with seizure remission and subsequent antiepileptic drug discontinuation were followed up. The relapse rates of seizures and the retreatments were observed. The causes of seizure relapse were analyzed. Results :Ten(66. 7%) patients had sustained seizure remissions and 5 (33. 3%) had relapses in 15 patients after a mean follow-up of 5 years. Antiepileptic drugs was restarted in the 5 relapsed cases and were successful in a girl, leaving a total sustained remission rate of 73. 3% (11/15) and an absolute relapse rate of 26. 7% (4/15). The relapse was associated with abnormal electroencephalogram, multiple cerebral lesions and biological changes of puberty. Conclusion:The relapse rate of TS epilepsy is similar to the relapse rate of other epilepsies. Reasonable discontinuation of antiepileptic drugs should be considered in the patients who attained seizure remission.

AIM: To study the difference in glucose and lactate levels between brain extracellular fluid (ECF) and plasma in rabbits in the different blood glucose levels. METHODS: Using intracerebral microdialysis technology, brain ECF levels of glucose and lactate were measured in every 10 min under basal conditions and during a hyperglycemia-hypoglycemia clamp study. RESULTS: Under basal condition, brain ECF glucose levels were markedly lower than ambient plasma levels (30% of plasma), whereas ECF lactate levels were substantially higher (165% of plasma). During the hyperglycemia-hypoglycemia clamps, the relationship between plasma and ECF levels of glucose remained similar, but changes in ECF glucose lagged about 30 min. There were no substantially changes in ECF levels of lactate during dynamical study. CONCLUSION: There are striking differences in glucose and lactate levels between brain ECF and plasma. Lactate may involve in the metabolic process of central nervous system.

OBJECTIVETo summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.

METHODBy a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.

RESULT(1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.

CONCLUSIONThe prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

Anticonvulsants ; therapeutic use ; Child ; Epilepsy ; complications ; drug therapy ; epidemiology ; Exons ; Genotype ; Humans ; Intellectual Disability ; etiology ; Male ; Muscular Dystrophy, Duchenne ; complications ; genetics ; Mutation ; Phenotype ; Prevalence ; Retrospective Studies ; Seizures ; Sequence Deletion

OBJECTIVETo elucidate the usefulness of next generation sequencing for diagnosis of inherited myopathy, and to analyze the relevance between clinical phenotype and genotype in inherited myopathy.

METHODRelated genes were selected for SureSelect target enrichment system kit (Panel Version 1 and Panel Version 2). A total of 134 patients who were diagnosed as inherited myopathy clinically underwent next generation sequencing in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2014. Clinical information and gene detection result of the patients were collected and analyzed.

RESULTSeventy-seven of 134 patients (89 males and 45 females, visiting ages from 6-month-old to 26-year-old, average visiting age was 6 years and 1 month) underwent next generation sequencing by Panel Version 1 in 2013, and 57 patients underwent next generation sequencing by Panel Version 2 in 2014. The gene detection revealed that 74 patients had pathogenic gene mutations, and the positive rate of genetic diagnosis was 55.22%. One patient was diagnosed as metabolic myopathy. Five patients were diagnosed as congenital myopathy; 68 were diagnosed as muscular dystrophy, including 22 with congenital muscular dystrophy 1A (MDC1A), 11 with Ullrich congenital muscular dystrophy (UCMD), 6 with Bethlem myopathy (BM), 12 with Duchenne muscular dystrophy (DMD) caused by point mutations in DMD gene, 5 with LMNA-related congenital muscular dystrophy (L-CMD), 1 with Emery-Dreifuss muscular dystrophy (EDMD), 7 with alpha-dystroglycanopathy (α-DG) patients, and 4 with limb-girdle muscular dystrophy (LGMD) patients.

CONCLUSIONNext generation sequencing plays an important role in diagnosis of inherited myopathy. Clinical and biological information analysis was essential for screening pathogenic gene of inherited myopathy.

Adolescent ; Child ; Child, Preschool ; Contracture ; DNA Mutational Analysis ; Female ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genetic Testing ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Molecular Diagnostic Techniques ; Muscular Diseases ; diagnosis ; genetics ; Muscular Dystrophies ; congenital ; Muscular Dystrophies, Limb-Girdle ; Muscular Dystrophy, Duchenne ; Muscular Dystrophy, Emery-Dreifuss ; Mutation ; Phenotype ; Sclerosis ; Walker-Warburg Syndrome ; Young Adult

BACKGROUND:Most balance disorders after total hip arthroplasty require a variety of rehabilitation methods to improve.Body weight support Tai Chi footwork can be used as a safe and effective balance training method. OBJECTIVE:To observe the effect of body weight support Tai Chi footwork on the balance function of patients after total hip arthroplasty. METHODS:Totally 74 subjects undergoing total hip arthroplasty were recruited and randomly divided into a control group(n=37)and a trial group(n=37).The control group received 30 minutes of body weight support walking training and 60 minutes of routine rehabilitation training;the trial group received 30 minutes of body weight support Tai Chi footwork training and 60 minutes of routine rehabilitation training,once a day,5 times a week,for 12 consecutive weeks.Before the intervention,4,8,and 12 weeks after intervention,the Berg balance scale and the dynamic balance ability test were used to evaluate the balance function.Harris score was used to evaluate the hip joint function,and the fall risk index was used to evaluate the fall risk. RESULTS AND CONCLUSION:(1)The four observation indicators all showed significant time effects(P<0.001).(2)Berg balance scale,Harris score and fall risk index all had an interaction effect(P<0.001),and there was a significant inter-group difference after 12 weeks of intervention(P<0.001),and the effect of the trial group was better than that of the control group.(3)After 12 weeks of intervention,there was an interaction and group effect in the scores of the front and left directions of the dynamic balance test(P<0.001),and there were significant group differences in the scores of the overall,front,left and right directions(P<0.001).(4)The results showed that after 12 weeks of intervention,the balance functions of the trial group and the control group were improved,and the improvement effect of body weight support Tai Chi footwork training was better than body weight support walking training on patients after total hip arthroplasty.

Objective:To explore the clinical characteristics, diagnosis, treatment, and follow-up of multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 Omicron variant infection.Methods:A retrospective analysis was conducted on clinical data of 11 children with MIS-C, who were admitted to the Department of Pediatrics of Peking University First Hospital from December 2022 to January 2023. Clinical characteristics, treatment, and follow-up of MIS-C were summarized in this study.Results:The 11 cases contained 7 boys and 4 girls, with an age of 4.4 (2.0, 5.5) years on admission. All the patients had fever, with a duration of 7(5, 9) days. Other clinical manifestations included rash in 7 cases, conjunctival hyperemia in 5 cases, red lips and raspberry tongue in 3 cases, lymphadenopathy in 3 cases, and swollen fingers and toes in 2 cases. There were 8 cases of digestive symptoms, 8 cases of respiratory symptoms, and 3 cases of nervous system symptoms. Eight patients had multi-system injuries, and one of them had shock presentation. All 11 patients were infected with SARS-CoV-2 Omicron BF.7 variant. The laboratory examination results showed that all cases had elevated inflammatory indicators, abnormal coagulation function and myocardial damage. Six patients had elevated white blood cell counts, 5 cases had liver function abnormalities, 3 cases had kidney function abnormalities, and 8 cases had coronary artery involvement. All 11 patients received anti-infection treatment, of which 3 cases received only 2 g/kg intravenous immunoglobulin (IVIG), while the remaining 8 cases received a combination of IVIG and 2 mg/(kg·d) methylprednisolone. Among the 8 cases with coronary artery disease, 6 cases received low molecular weight heparin anticoagulation therapy. All patients were followed up in 2 weeks after being discharged, and their inflammatory markers had returned to normal by that time. The 8 cases with coronary artery disease and 3 cases with pneumonia showed significant improvement or back to normal at the 4-week follow-up. All patients had no new complications or comorbidities during follow-up of more than 3 months.Conclusions:MIS-C may present with Kawasaki disease-like symptoms, with or without gastrointestinal, neurological, or respiratory symptoms. Elevated inflammatory markers, abnormal coagulation function, and cardiac injury contribute to the diagnosis of MIS-C. IVIG and methylprednisolone were the primary treatments for MIS-C, and a favorable short-term prognosis was observed during a follow-up period of more than 3 months.

Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.

Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.