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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.
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Objective:To summarize the clinical features and prognosis of neonates with congenital fissure of larynx due to choking, and improve the diagnosis and treatment of congenital fissure of larynx by neonatal medical professionals.Methods:This study was a single-center retrospective case series report.With "choking" as the key word, combined with the information from the first page of the medical record, we searched in the electronic medical record system, and summarized the clinical characteristics and prognosis of neonates diagnosed as congenital fissure of larynx.The study period was from January 2017 to February 2021.Results:A total of seven cases were diagnosed as congenital fissure of larynx, accounting for 2.2% of the total number of hospitalized children due to choking during the same period.Among them, six cases were male, gestational age was 38 (36, 39) weeks, birth weight was 2 820 (2 255, 3 420) g, admission age was 18(5, 20) days and hospitalization duration was 26 (6, 45) days.The common clinical symptoms were choking (7/7) and cyanosis (5/7). Six of the seven children with fissure of larynx were clearly classified as type Ⅰ(two cases), type Ⅲ(three cases), and type Ⅳ(one case). All the seven cases were accompanied by other site/tracheal malformations or congenital abnormalities, among which four (4/7) cases had VACTERL syndrome.A total of three children (two cases of type Ⅲ and one case of type Ⅳ) underwent laryngeal cleft repair operation, and all died shortly after surgery.Four cases didn′t receive laryngeal cleft repair operation (two cases of type Ⅰ, one case of type Ⅲ, one case of parting was unknown), one case with type Ⅰ fissure of larynx accepted the tracheoesophageal fistula repair operation only, who was followed up until the age of two years and six months, and he could have normal diet, one case of typeⅠfissure of larynx with gastric tube discharge, who was followed up to one year and eight months old, could be normal diet too, the two cases of children with no difference between the growth with their peers; one case with type Ⅲ fissure of larynx was lost to follow-up; One case, whose classification was unknown, was followed up until he was 40 days old, and still could be fed orally.The physical development of the child was significantly behind that of the same age.Conclusion:Congenital fissure of larynx is rare, with choking as its main symptom and other malformations.Diagnosis and classification require fiberlaryngoscope and bolting laryngoscope under general anesthesia combined with bronchoscopy, which is difficult to treat.Type Ⅰ has a good prognosis, while type Ⅲ and Ⅳ have poor prognosis.
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Objective:To study the clinical features and prognosis of infantile hepatic hemangioendothelioma-arteriovenous fistula (IHHE-AVF) complicated with heart failure in neonates.Method:From May 2016 to June 2020, neonates with IHHE-AVF complicated with heart failure admitted were retrospectively studied. The clinical presentation, treatment and outcomes were analyzed.Result:A total of 11 cases of IHHE-AVF complicated with heart failure were enrolled (male 5, female 6). The onset age of heart failure was 12.0 (0.0, 17.0) d. 6 cases showed IHHE on fetal ultrasound. All patients had significantly enlarged heart on chest X-ray. All patients had decreased left ventricular systolic function and pulmonary hypertension on echocardiography. All patients required respiratory support and 6 of them were intubated. 3 cases received conservative treatment (all dead). 1 case received surgery (dead). 7 cases received interventional therapy at the age of (25.6±18.5) d. 1 case was dead, and the other 6 cases were improved and discharged. All the 6 cases were followed up to 3~18 months. None of them had heart failure again. The IHHE were shrunk or completely disappeared. Coagulation function and platelet count were normal.Conclusion:The fatality rate of neonatal-onset IHHE-AVF complicated with heart failure is extremely high. Interventional therapy may be more effective than conservative therapy and surgery.
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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.
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Objective To summarize the gene mutation,treatment and prognosis of neonatal congenital hyperinsulinism (CHI) cases.Method The gene mutation and treatment of newborn infants who were admitted to the neonatal center of Beijing Children's Hospital between February 2015 and February 2018 with confirmed CHI diagnosis and whole exome sequencing (WES) results were retrospectively summarized.Result Totally 8 infants (5 boys and 3girls) were included.The onset age was (13.2±6.1) h (2 h ～ 2 d).The main clinical presentations were inactivity,seizures and poor feeding.Among the 8 patients,3 were positively responded to diazoxide,5 were negative and then been treated by octreotide.Among these 5 cases,3 were positively responded to octreotide (with stable blood glucose level after discharged home and till 6 months of age) and 2 were negative to both diazoxide and octreotide (1 had partial pancreatectomy afterwards but still had 1～2 episodes pf hypoglycemia till 6 months post-operational periods,another 1 died with unknown detail information soon after the parents quit further medical intervention).All 8 cases had heterozygous gene mutations.7 out of the 8 cases were ABCC8 gene (encoding islet beta-cell potassium channel protein sulfonylurea receptor protein SUR1) mutation on different sites including c.4414G＞A,c.221G＞A,c.1773C＞G,c.4352T＞C,c.2924-9C＞T,c.4198+ 1G＞T,c.2509C＞T,c.2331G＞A,c.4316A＞G and c.47G＞C.Among these 7 cases,3 were complicated heterozygous mutations with completely no response to diazoxide (2 out of the 3 were positively responded to octreotide,1 out of the 3 was negative to octreotide)and the other 4 were simple heterozygous mutations (2 out of the 4 were positively responded to diazoxide,1 out of the 4 was negative to diazoxide but positive to octreotide,and 1 out of the 4 was negative to both diazoxide and octreotide).1 out of the 8 cases was heterozygous GLUD1 gene mutation at c.1388A＞T site and had positive therapeutic responses to diazoxide.All 5 out of the 8 cases with negative therapeutic response to diazoxide had ABCC8 gene mutation.Conclusion ABCC8 gene encoding islet beta-cellpotassium channel protein sulfonylurea receptor protein SUR1 is the most common gene to have mutation io CHI.Mutations at multiple sites of this gene may cause CHI.Various therapeutic responses to medications might be related to different types of gene mutation.
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Objective To study the etiology and clinical features of arrhythmia in neonates with cardiac cardiomegaly.Method A retrospective study was conducted on newborns with arrhythmia hospitalized in the neonatal intensive care unit of our Hospiatal from January 2016 to May 2018.The eases were assigned into arrhythmia with cardiac enlargement group and non-benign arrhythmia without cardiac enlargement group cardiomegaly.The etiology,clinical features and prognosis of newborns with arrhythmia and cardiac enlargement were analyzed.Result There were 15 newborns with arrhythmia accompanied with cardiac enlargement,all of them were non-benign arrhythmias,which accounted for 26.8％ (15/56) of all non-benign arrhythmias in the same period.The causes included infections viral myocarditis,pneumonia and digestive tract infection,electrolytes and acid-base imbalance hypocalcemia,hyperkalemia and metabolic acidosis,structural cardiac abnormalities,metabolic cardiomyopathy,nodular sclerosis and indwelling central venous catheter.The median age of onset was 9 (0,19) days,and the median medical history was 2 (1,7) days,the significance of which were not different from those of non-benign arrhythmias without cardiac enlargement group (41 cases).The rate of cesarean section and ventricular rate＞160 bpm at admission were higher than those in the non-benign arrhythmias without cardiac enlargement group.12 of 15 cases began with weak responses,poor appetite and dyspnea.The common arrhythmia types were paroxysmal supraventricular tachycardia (6 cases),atrial tachycardia (4 cases) and atrial flutter (4 cases).The proportion of atrial flutter was higher than that of the non-benign arrhythmias without cardiac enlargement group.8 cases received respiratory support.The average length of stay was (18.4±8.6) days.The mortality rate during hospitalization was 6.7％.The echocardiographic results showed that left atrioventricular enlargement and ejection fraction of left ventricle less than 60％ during arrhythmic episode.The cardiac size and systolic functions of left ventricle reverting to normal after improvement.During the follow-up period,1 case died and 2 cases lost to follow-up,all of them were discharged against medical advice.The median follow-up time of other cases was 1.6 (1.3,2.2) years.All of them recovered well without abnormalities in cardiac size or cardiac function by echocardiography.Conclusion Most newborns with arrhythmia accompanied by cardiac enlargement had insidious onset.Tachyarrhythmia was common and infection was the main cause.Attention should be paid to screening of rare causes in clinical practice.Non-benign arrhythmias with or without cardiac enlargement have no significant difference in the overall prognosis by active treatment.
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Objective To study the clinical features,diagnosis and treatment in the neonates of Kasabach-Merritt phenomenn (KMP).Method To analyze retrospectively the data collected from the 9 neonates of Kasabach-Merritt phenomenon in our neonatal intensive care unit from January 2016 to March 2017.The data of their clinical presentation,imaging findings,treatment and outcomes were analyzed.Result Among the 9 cases,there were 6 males and 3 females,with onset age of 0 ～ 14 d.The hemangiomas were located over the body surface of the neck,back,trunk and limbs in 4 cases.The others were located in the deep organs in 5 cases.2 cases were found hepatic hemangiomas by fetal ultrasound and 3 cases had symptoms of poor response,dyspnea and nasal bleeding with occult onset.All the 9 cases had thrombocytopenia,and the average platelet count was 24.0 × 109/L.The imaging findings showed the changes of hemangiomas,and among them,3 cases were associated with arteriovenous fistula.In one case,the biopsy pathology diagnosis was Kaposiform hemangioendothelioma.Among 8 cases which was treated,2 cases had systemic medication,2 cases had interventional embolization and 4 cases were treated with combined therapy (interventional embolization together with medication),including 1 case of definitive surgical treatment.Finally 7 cases improved,1 case with severe thrombocytopenia and coagulation disorders did not improve and treatment abandoned and 1 case died before treatment.Conclusion The symptomatology of KMP is various,which is related to the location of the lesion.The imaging studies are helpful to diagnosis.Massive hemorrhage and multiple organ dysfunction can be fatal.The treatments are different among cases,for most cases with proper treatment the prognosis are good.
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Objective To establish an HPLC method for the content determination of sodium Danshensu inBawei Qidan Capsule.Methods HPLC was applied and the determination was performed on Shim-pack CLC-ODS C18 column (250 mm×4.6 mm, 5μm) with methanol-water- acetic acid (7∶92∶1, V/V/V) solution at a flow rate of 1.0 mL/min and detection wavelength at 281 nm. The column temperature was 30℃, and injection volume was 10μL.Results Through methodological study, the linear range of sodium Danshensu was 0.494 4-4.944μg (r=0.9996), the average recovery was 97.20%, RSD=1.13%.Conclusion The HPLC method for the content determination of sodium Danshensu inBawei QidanCapsule was user-friendly, accurate and reliable, with good repeatability and stability, which can be used for quality control ofBawei Qidan Capsule.
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Chronic obstructive pulmonary disease ( COPD) is a group of chronic airway inflammatory disease characterized by sustained airflow limitation and pulmonary function damage.Inflammation and tissue repair repeatedly result in airway remodeling.Now the mechanisms of airway remodeling remain unclear.More and more researches indicated that epithelial mesenchymal transition ( EMT) is crucial in the airway remodeling of COPD.EMT could be induced by various cell factors and signal channels in the airway epithelium, thus the airway remodeling happened.This review systematically introduces EMT and focuses on the relationship of EMT and airway remodeling of COPD and the probable mechanisms.
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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.
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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.
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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.
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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.