Objective To describe the clinical characteristics of one child with primary hyperoxaluria types Ⅲ, and to analyze the potential mutant genes in his family.Methods AGXT, GRHPR and HOGA1 genes were analyzed by direct sequencing analysis in this family.One hundred unrelated healthy subjects were also analyzed as controls.Results The child had early onset of symptoms (0.8 year).His principal clinical manifestation included nephrolithiasis and obstructive nephropathy, however his nephrocalcinosis was mild.And he presented high urine oxalate, high urine calcium, and lower citrate levels.Two novel heterozygous mutations in HOGA1 were identified (compound heterozygous), one mutation was a 2-bp substitution at the last position in exon 6 and the first position of intron 6 respectively (c.834_834 + 1GG ＞ TT);another was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G ＞ A).Both of these variants found in this study probably acted as splicing mutations.Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects.In addition, a SNP (c.715G ＞ A, p.V239I) was found in this family.There were no mutations detected in AGXT and GRHPR.Conclusions Two novel mutations are identified probably in association with PH Ⅲ.This is the first description and investigation on mutant gene analysis of PHⅢ in Asia.

Objective To evaluate the risk factors for benign childhood epilepsy with centrotemporal spikes (BECT) complicated by electrical status epilepticus in sleep(ESES).Methods From January 2013 to January 2017,a total of 80 children diagnosed as BECT in pediatric neurology outpatient department of Provincial Clinical Medical College Affiliated to Fujian Medical University were enrolled.According to whether there was an attack of ESES or not,patients were divided into ESES group(38 cases) and non-ESES group(42 cases).In order to elucidate risk factors for BECT complicated by ESES,clinical data including age,gender,first seizure age,seizure frequency before treatment,types of seizure,therapeutic drug,recurrence of seizure after treatment,febrile seizure,status at birth,family history,brain MRI,discharge quantity,discharge location,and intelligence score were investigated by multivariate Logistic regression analysis.Results Compared with non-ESES patients,ESES patients were more likely to have recurrence of epilepsy after treatment (68.4％ vs 26.2％,P ＜ 0.001),and had worse intellectual development (＜ 90 scores;73.7％ vs 38.1％,P =0.001);while electroencephalogram showed more discharge in anterior location (47.4％ vs 21.4％,P =0.014) and bilateral distribution of brain (52.6％ vs 26.2％,P =0.015).However,the multivariate Logistic regression analysis showed that only recurrence of seizure after treatment was the risk factor for ESES in BECT patients(P=0.008,OR=4.039,95％CI:1.429-11.418).Conclusion Recurrence of seizure after treatment of BECT was a high risk factor for ESES.Controlling seizure and reducing ESES phenomenon could be beneficial to alleviate the intellectual impairment of patients with BECT.

Objective:To investigate the demand and practical utility of simulation operations specialists (SOS) in simulation teaching modules during the standardized residency training.Methods:Based on the feedback for stimulated courses of standardized residency training, subjective evaluation of all residents, teachers and SOS who participated in simulation courses in 2017-2018 academic year were investigated and studied via the mobile phone online investigation. At the same time, the design data of teaching concept map of relevant curriculum were also included. The SPSS 13.0 was used to conduct the t test and chi-square test. Results:At present, only 26.3% of the preset functions were used in the medical simulation courses based on high-tech medical simulator. Tutors commanded less than 30% functions, while SOS participated in the whole process of the course preparation and commanded 63.6% of the course operations, which was higher than the requirement of teaching concept map (45.5%). Among them, ECG monitoring regulation, venous management and special effects makeup were in greatest needs and were items with the biggest gap between ideality and reality. Resident physicians required SOS to replace the tutors to operate teaching facilities, so as to reduce interruption (37.0%), implications (31.3%) during courses, and improvement of experience sense during the course (32.3%). Furthermore, specialists with clinical background needed more assistance from SOS than those without clinical background ( tQ3=3.204, tQ4=2.573, tQ5=2.660; P<0.05). Differences were found between the actual work content of SOS and their job requirement ( χ2=12.632, P<0.01). Conclusion:SOS plays a significant role in the simulation course of standardized residency training, especially in the course of clinical professional physicians. Auxiliary functions of simulated courses, such as teaching aids management, special effects makeup, course designing, qualified SP and others are the main necessities for SOS at present. Participation of tutors and SOS together is essential to ensure a good development and performance of medical simulation courses for standardized residency training.

Objective:To explore the genetic etiology and the value of early diagnosis of early onset epileptic encephalopathy (EOEE) with unknown etiology.Methods:A total of 60 children with EOEE of unknown etiology were prospectively enrolled in the outpatient and inpatient departments of Fujian Provincial Hospital from January 2018 to January 2021.Peripheral blood was collected prospectively for whole-exome sequencing and copy number variation (CNV) detection to analyze the clinical characteristics and genetic sequencing results of the children.Results:Twenty-four patients with EOEE-related pathogenic or suspected pathogenic mutations were detected, including infantile spasms (10 cases), Dravet syndrome (3 cases), pyridoxine-dependent epilepsy (1 case) and ohtahara syndrome (1 case), and unknown epileptic encephalopathy (9 cases). The onset age of EOEE-related patients ranged from 1 day to 11 months (median age was 4.2 months), the treatment age ranged from 2 days to 4 years (median age was 10 months), and the age of diagnosis was controlled within 1 month after treatment.There were 20 cases (33.3%) single gene variants and 4 cases (6.7%) CNV variants.A total of 13 genes were involved: KCNQ2, SCN1A, SCN8A, CACNA1E, CDKL5, PPP3CA, PCDH19, TSC1, TSC2, ZEB2, ALDH7A1, DCX and HNRNPU.The 4 CNV abnormalities were 17p13.3 deletion, 11q23.3q25 deletion, 1q36.31-p36.33 deletion, 1q43-1q44 deletion and Xp22.33 duplication, respectively.Totally, 20 mutations were new loci reported for the first time at home and abroad; 11q23.3q25 deletion that resulted in infantile spasm was first reported at home and abroad.Infantile spasm caused by ZEB2 mutation and epileptic encephalopathy caused by PPP3CA gene were both reported for the first time in China. Conclusions:Gene and CNV are important potential causes of children suffering from EOEE.When the etiology is unclear, the combination of whole-exome sequencing and CNV sequencing technology can improve the diagnosis level of genetic etiology of children with EOEE.The early genetic detection of these children can early diagnose and accurately treat epilepsy.