Objective:To study the genetic profiles and clinical characteristics of neonatal-onset genetic epilepsy.Methods:From July 2016 to May 2021, patients with neonatal-onset genetic epilepsy admitted to our hospital and received second-generation genetic sequencing were enrolled in this study. According to the types of genetic variations, the patients were assigned into ion channel group and non-ion channel group. Clinical characteristics, treatments and prognosis of the two groups were compared.Results:A total of 36 patients with identified genetic variations were enrolled, involving 15 epilepsy-related genes. KCNQ2, SCN2A and STXBP1 were the most common pathogenic genes. 20 cases (55.6%) were in the ion channel group and 16 cases (44.4%) in the non-ion channel group. No significant differences existed in their general status, seizure types, EEG characteristics, treatments and outcomes between the two groups ( P>0.05). Among all 36 cases, the age of onset ranged from 10 min to 24 d after birth and 28 cases (78.8%) developed epilepsy within 1 week after birth. Developmental and epileptic encephalopathies were diagnosed in 20 patients. 7 patients were diagnosed with self-limited neonatal epilepsy, 2 were pyridoxine dependence, 2 were Zellweger syndrome and 1 case of self-limited familial neonatal-infantile epilepsy, Turner type mental retardation with epilepsy, PURA syndrome, Rett syndrome and 22q11.2 deletion syndrome, each. The patients received antiepileptic drugs including phenobarbital, levetiracetam, oxcarbazepine, topiramate, valproic acid, benzodiazepines (nizepam/clonazepam /clobazam/midazolam), lacosamide and lamotrigine. 5 patients died after giving up treatment. 31 patients were followed up for 6 to 50 months. 22 cases (71.0%) were controlled at 1- to 35-month-old including 21 cases (56.7%) with developmental delay. 6 cases (19.4%) had ineffective seizure control and 3 cases (9.7%) showed reduced seizures, all with varying degrees of developmental delay. Conclusions:Neonatal-onset epilepsy is correlated with multiple genes. KCNQ2, SCN2A, STXBP1 are the common pathogenic genes with multiple variants of KCNQ2 gene. Most patients have seizures within 1 week after birth. More than half of patients have ion channel related gene variations. Sodium channel blockers have certain effects as treatment.

Virtual reality (VR) is a technology that interacts computer-generated three-dimensional scenes with the user′s senses and has been gradually applied in the real medical field. Since the first time of successful attempt in 3D laparoscopic gastrointestinal surgery VR living video broadcast in 2016, the authors have experienced the exploration of the application of this technology (2016-2017) as well as the in-depth research phase (2018-2019). Nowadays, the VR application in our center has entered into the application practice phase (2020 to present). With the technology iteration and more and more application experience acquisition, our current VR application mainly focuses on two practice settings, including the clinical teaching scenarios for early exposure to acute appendicitis for medical undergraduate students and the preoperative communication to give pati-ents an early sense of the process in the operating theatre, and has achieved good application results. With continuous breakthroughs and innovations in software and hardware, we believe that more clinical VR scenarios and the course audience will be expanded to a wider group. The integration of some new hotspots such as Meta-Universe and ChatGPT will make up for the shortcomings in VR content scenarios and interactivity, and its application prospects are infinite.

【Objective】 To conduct serological and molecular study of D^el type in RhD-negative donor population in Zhongshan area, so as to improve the diagnosis of D^el type. 【Methods】 A total of 102 initially RhD-negative samples, collected from December 2017 to February 2019, were classified by RHCE and PCR-SSP genotyping. And 95 cases of truly negative RhD were confirmed by IAT, 28 cases of D^el type were identified by absorption and elution test. The phenotype and genotyping characteristics of D^el type in Zhongshan area were summarized based on domestic data of relative literature. 【Results】 Among 102 initially RhD-negative samples by serological test, 95 were truely RhD-negative, 28 were DELRHD 1227A without any other D^el allele. Among them, RHCE antigen type were Ccee in 20(71.4%) cases, CCee in 8(28.6%), with no difference in comparison with other regions in China. The frequency of D^el in RhD-negative blood donors was 29.5% (28/95), with difference between Shanghai, Taiwan, and Fuzhou, but no difference between Nanchang, Zhejiang, and Wuhan. 【Conclusion】 The study showed that the D^el phenotype was closely related to Ce haplotype, and has no difference with other regions in China. The frequency of D^el type in RhD negative donors was 29.5%, with regional differences. RHD1227A was the main allele of D^el.

Objective:To summarize the clinical characteristics and treatment outcome of neonates with laryngopharyngeal congenital structural abnormalities in intensive care unit.Methods:The clinical data of neonates with congenital laryngopharyngeal structural abnormalities in the Neonatal Intensive Care Unit of the National Center of Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2018 were retrospectively analyzed.The general data, birth status, disease types and clinical characteristics of abnormal laryngeal structure, complications, treatment and follow-up of some children with special diseases were summarized.These neonates were divided into the operation group and the conservative treatment group according to treatment methods, and then the outcomes of the two groups were compared.Results:A total of 133 cases of neonates with laryngopharyngeal congenital structural abnormalities were enrolled, including 73 cases(54.88%) with laryngomalacia, and 60 cases(45.12%) with special structural abnormalities.Of 60 cases with special structural abnormalities, 26 cases (19.54%) had pharynx and larynx cysts, 18 cases (13.53%) had vocal cord paralysis, 4 cases (3.00%) had laryngeal cleft, 2 cases (1.50%) had subglottic hemangioma, 3 cases (2.25%) had Pireer Robin, 1 case (0.75%) had laryngeal poof, 5 cases (3.75%) had pharynx softening, 1 case (0.75%) had subglottic stenosis.Nine patients had special structural abnormalities and laryngomalacia simultaneously.Fiber nasopharyngoscope and enhanced CT were main auxiliary examinations.Twenty-two(16.5%) cases received surgical treatment.Conclusions:Early diagnosis is needed for the neonates and abnormal laryngeal structure.The best treatment scheme should be evaluated according to the condition of the newborn.For some acute cases, early operation and multidisciplinary comprehensive treatment are warranted.

Objective To evaluate the effect of the standardized training program for resident physicians in Ruijin Hospital,and analyse the problems so as to provide reference to improve the training.Methods Questionnaire surveys were conducted among 113 resident physicians,31 teachers and 43 head nurses in Rujin Hospital by using the simple random sampling and 300.The data was analysed by Kirkpatrick's model in four layers including reaction layer,learning layer,behaviors layer and results layer.Data of reation layer was analysed by ANOVA and data of behaviors layer was compared by paired t-test.Results Reaction layer:the resident physicians' overall satisfaction score for the training is 3.45.Learning layer:all resident doctors participating in the training passed all the exams organised by the hospital.Behaviors layer:Residents made a great progress in many aspects after the standardized training program,and the difference was statistically significant (P＜0.01) according to the analysis of all questionnaires written by residents,clinical teachers and head nurses.Results layer:both the patient complaint rate and the accident rate of the 113 resident physicians was 0 while they all passed the National Medical Licensing Examination and the employment rate was 100％.Conclusions the standardized training program for resident physicians in Ruijin Hospital gets fairly good effect.Resident doctors' quality and ability in many aspects are improved and the overall satisfaction for the training is high,but in salary,benefits and sense of belonging to the hospital,the satisfaction is relatively low.

Objective To discuss the relationship between the clinical pathogenesis and progression in neonatal pulmonary hypertension in different stages.Methods Total 169 cases of pulmonary hypertension were admitted in our NICU from June 2006 to May 2012,all the cases were involved in this retrospective study.They were divided into two groups in chronological order:early group 79 cases (from June 2006 to May 2009) and late group 90 cases (from June 2009 to May 2012).The data records include gender,gestational age,protopathy,echocardiography examination results.Furthermore,the cause and development of neonatal pulmonary hypertension were analyzed in different stages.Results The admission time in the early group was later than the late group [(2.15 ± 1.2) d vs (1.41 ±0.70) d].Meconium aspiration syndrome in the early group were 25 cases (31.6％) and the late group were 14 cases (15.6％).Other complications,such as congenital diaphragmatic hernia,neonatal respiratory distress syndrome,aspiration pneumonia,wet lung/sepsis,neonatal asphyxia,neonatal infectious pneumonia had no difference between the two groups(P ＞0.05).Neonatal pulmonary hypertension in two groups had no statistical difference between term and post term patients,but premature in the early group (11 cases,13.9％) were less than the late group (23 cases,25.6％).Echocardiography was recorded after admission,mild and moderate pulmonary hypertension had no statistical differences in the two groups (P ＞ 0.05).The severe pulmonary hypertension cases in the early group were more than those in the late group (26 cases vs 17 cases).Conclusion Along with the improvement of perinatal monitoring and resuscitation technology in different stages,the cases of meconium aspiration syndrome with pulmonary hypertension are fallen down and the patients transferred to the superior hospital decreased.The amount of pulmonary hypertension in preterm infants increases,and the admission time of patients with neonatal pulmonary hypertension are shortened.The amount of severe pulmonary hypertension are less than those in the early time.It plays a positive role in best approach to improving treatment and outcomes.

Objective To analyze of the risk factors for persistent pulmonary hypertension of newborn(PPHN) after resuscitation in neonatal asphyxia.Methods Total 92 cases of PPHN in neonatal asphyxia were admitted in NICU,Beijing Children's Hospital Affiliated to Capital Medical University from Jan.2009 to Dec.2013 as PPHN group.According to patients condition,to case-control study method were randomly selected 92 cases without PPHN in neonatal asphyxia in the same period as control group.Except for other serious complications with PPHN,such as respiratory distress syndrome,meconium inhalation,pulmonary hemorrhage,neonatal severe pulmonary infection and diaphragmatic hernia.Apgar score and rescue measures after asphyxia based on the newborn perinatal questionnaire and body temperature,blood sugar,arterial blood gas and echocardiography on admission were recorded.Results Respiratory treatment of PPHN group and control group were 71 cases (77.2％) vs 28 cases (30.4％),respectively.There was significant difference (x2 =6.380,P =0.012).On admission,mean arterial pressure [(32.36 ± 11.52) mmHg],temperature [(34.3 ±0.28) ℃],blood sugar [(2.56 ±0.77) mmol/L] and arterial blood pH value (7.16 ±0.21) in PPHN group were lower than those of the control group [(38.55 ± 9.18) mmHg,(36.5 ± 0.71) ℃,(3.46 ± 0.53) mmol/L,7.21 ±0.14].For mild and severe asphyxia cases in the PPHN group,blood gas and pulmonary hypertension had no statistical difference after rescucitation in the delivery hospital.Conclusions Acidosis,hypothermia,low blood pressure and hypoglycaemia after resuscitation in neonatal asphyxia are major risk factors for genesis of PPHN.This research shows that rescue after asphyxia timely,early and respiratory support effectively,monitoring closely,treatment of hypoglycemia and hypothermia,correct acidosis and maintain blood pressure can play a positive role in decreasing the morbidity of PPHN in neonatal asphyxia.

Objective To investigate the cardiac structure and hypertrophic cardiomyopathy of infant of diabetic mother(IDM),to analyze of the outcome of hypertrophic cardiomyopathy in IDM.Methods Totally 23 cases of IDM admitted in NICU from Feb.2012 to Jan.2013 were selected as observation group,randomly selected from the same period with gestational age of diabetic mother baby 23 cases as control group.The interventricular septum thickness,left ventricular posterior wall thickness,aortic valve internal diameter,right ventricular diameter,ejection fraction were detected and compared between the 2 groups.And echocardiography was followed up in 3 months and 6 months old.Results In IDM group,interventricular septum thickness [(3.20 ± 0.28) mm],left ventricular posterior wall thickness [(3.40 ± 0.31) mm] were significantly higher than those in control group (all P ＜ 0.05).Ejection fraction [(54.00 ± 3.76) × 10-2] was significantly lower than that in control group(P ＜ 0.05).Follow-up after 3 months,6 months old,interventricular septum thickness,left ventricular posterior wall thickness and ejection fraction returned to normal.Four of the 23 cases(17.4％) had cardiac malformations.Conclusions IDM has high morbidity of congenital heart disease,echocardiography should be done to identify hypertrophic cardiomyopathy and congenital heart disease after birth.IDM combined with hypertrophic cardiomyopathy is a transient,benign process,prognosis is good.

ObjectiveTo investigate the incidence and risk factors in retinopathy of prematurity (ROP) at matched gestational age.Methods Data collected by the medical records of neonates from November 2007 to December 2010 in our neonatal database were analyzed.Patients'information was recorded from birth to discharge from NICU.Data included age after birth (hours),gestational age,body weight at birth,treatment,and maternal demographics.The statistical study was carried out by SPSS version 13.0 software.Mann - Whitney U test was used for numerate data.Fisher's exact probability test and Pearson's chi - square test were used to compare quantitative variables between independent groups.P values were considered significant when they were less than 0.05 ( two - sided).ResultsThe incidence of ROP was 5.38％.Gestational age of ROP group and control group was matched ( P =0.387 ),but difference in body weight at birth was significant ( P =0.045 ).Age after birth was significantly different ( P =0.013 ).Apnea and anemia were significantly different between two groups (P ＜ 0.01). The differences in duration of hospitalization,NCPAP and use of antibiotics between two groups were significant ( P ＜ 0.002,0.000 and 0.000,respectively).ROP group differed from control group greatly in hospitalization expenses.Multiple stepwise logistic regression analysis showed that oxygen supplenentation ( P =0.0237 ) and infection ( P =0.0118) were risk factors of ROP. ConclusionsThe incidence of ROP in NICU in Beijing Children's Hospital was 5.38％.Inhalation of oxygen supplementation and infection were risk factors of ROP.

Objective:To investigate the epidemiological characteristics of bacteria and their susceptibility to antimicrobials and to establish a basis for empirical treatment of the neonatal infections. 　Methods:Identification of bacteria were performed according to the National Standard of Clinical Microbiological Test. Disk diffusion were used for antimicrobial susceptibility test.　Results: A total of 2,244 strains were isolated from the samples collected in our neonatal ward from Jan. 1987 to Dec. 1998. The predominant species ranked the first three were Staphylococcus epidermidis, Staphylococcus saprophyticus and Escherichia coli in the group I (infections acquired outside of hospital). Escherichia coli, Klebsiella and pseudomonas aeruginosa ranked the first three in the group Ⅱ(nosocomial infections). The resistance rates of bacterial isolates from group Ⅱ to antimicrobial agents including penicillin and ampicillin were significantly higher than that from group I (P＜0.05). The sensitivity rate was 82.2% by using amikacin only, but raised to 89% when combined with penicillin. 　Conclusion: Gram-negative bacteria were the main pathogens of nosocomial infections of neonates in our hospital but Gram-positive bacteria were the main pathogens of infections acquired outside of hospital. The nosocomial pathogens were more prone to developing drug resistance. It is recommended that the combinative use of amikacin and penicillin be employed as primary antibiotics for treatment of neonatal infections.