Objective To investigate the clinical characteristics of neonatal tuberous sclerosis complex (TSC).Methods A total of 134 patients were admitted and diagnosed as TSC in Beijing Children′s Hospital,Capital Medical University from September 2006 to September 2015.The clinical characteristics of TSC in 8 patients who had clinical symptoms initiating from the neonatal period (skin lesion,neurologic abnormality,etc.) were analyzed,so as to conduct the auxiliary examinations (skin biopsy,ultrasonic cardiogram,cranial imaging) and the follow-up results.Results Among 8 patients,4 were diagnosed as TSC in the neonatal period while other 4 were diagnosed at later period from 4 months to 14 years old.Six patients had skin lesions in neonatal period,accounting for 75% of 8 patients,with predominant symptoms:hypomelanotic macules (5 cases),angiofibroma (2 cases),and shagreen patch (1 case).Cardiac abnormalities in neonatal period mainly included cardiac rhabdomyoma,which were characterized by high incidence,multi-regional occurrence,and wide distribution,noticed in 4 patients (50%).Ultrasonic cardiogram showed a mass in 4 patients with moderate-strong echo,uniform texture and clear boundary,and slight effect on tricuspid valve blood flows (in 1 case).Electrocardiogram abnormalities were found in 1 case,like atrial premature beats with intraventricular aberrant conduction,and accelerated atrial escape.Neurologic abnormality of neonatal TSC could present convulsive seizures.Cranial imaging lesions showed subependymal nodules (3 cases),leukodystrophy (2 cases),and giant-cell astrocytoma (1 case).Evidence for TSC2 gene positive and heterozygous mutation was identified in 1 case.The nucleic acid mutation site was at c.268C>T (E4),and the amino acid mutation was p.90Q>X.The mutant effect was nonsense mutation,which could lead to premature termination of protein translation.Conclusion The clinical characteristics of neonatal TSC may involve multi-system lesions,most commonly seen in the skin,cardiac,and ner-vous system.Neonatal physical examinations,cranial CT/magnetic resonance imaging and cardiac ultrasound screening should be done for the suspected TSC patients,and genetic diagnosis may contribute to the early diagnosis of the disease.

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.

Objective To discuss the clinical features of neonatal shock retrospectively.Methods Totally 144 neonates were enrolled in this retrospective study from Sep.2006 to Sep.2012 in NICU of Beijing Children's Hospital.Clinical data were collected from our database,including the primary disease,manifestation,laboratory findings,treatment and prognosis.Results According to the severity of shock,28 cases were mild,85 were moderate,31 were severe.Regarding to the type of shock,71 cases were cardiogenic shock,22 cases were hypovolemic shock,51 cases were septic shock.About 69.4％ patients were cured,only 9 cases died.Eight of them died of septic shock.Totally 33 cases in pH ＜7.15 group,2 of them died.In pH≥7.15 group,111 cases were involved,7 of them died.There was no significant difference of mortality between two groups (P =0.959).Conclusion Neonatal shock mostly occurred within 3 days after birth,and cardiogenic shock were dominating.Septic shock increased with age,and were responsible for death.

Objective To analyze the clinical and molecular features of community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infection in neonates and to investigate their antibiotic resistance profiles.Methods A total of 35 invasive CA-MRSA strains were collected from six hospitals in 2014.Multilocus sequence typing (MLST), staphylococcal cassette chromosome mec (SCCmec) typing and spa typing were used to analyze these isolated CA-MRSA strains.In vitro antibiotic susceptibilities of those strains to 15 antibiotics were analyzed by using agar dilution method.Results Up to 88.6% patients were late-onset infection and septicemia (24, 68.5%) was the most common infection among the 35 cases.A total of 16 patients (45.7%) suffered from complications.Caesarean section and premature birth were risk factors for invasive CA-MRSA infection.ST59-MRSA-SCCmecⅣa-t437 (14, 40%) was the most predominant CA-MRSA clone, followed by ST59-MRSA-SCCmecⅤ-t437 (13, 37.1%).The incidence of severe complications caused by ST59-MRSA-SCCmecⅤ-t437 was higher than that caused by ST59-MRSA-SCCmecⅣa-t437 (P<0.05).Up to 85.7% of the isolated CA-MRSA strains were multidrug-resistant strains.Conclusion This study shows that neonatal invasive CA-MRSA infections mainly result in septicemia and are often accompanied by complications and involve multiple organs.Multidrug-resistant CA-MRSA strains are prevalent in neonates.ST59-MRSA-SCCmecⅣa-t437 is the predominant clone causing neonatal invasive CA-MRSA infection.

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 clinical features,diagnosis and treatment of neck masses in newborns. Methods All cases of neck masses in newborns admitted to NICU of Beijing Children's Hospital form January 2016 to Febrary 2018 were included,and the clinical manifestations,examinations,treatments and outcomes were evaluated. Results Fourteen cases of newborn's neck masses were collected. The time of onset was 8 cases at birth,1 case earlier than 7 days,5 cases after 7 days. Seven cases were admitted with dyspnea,10 cases combined with neck infections. Neck ultrasound examinations were performed in all 14 cases,CT scan in 2 cases,MRI in 10 cases. Five cases were given endotracheal intubation after admission, among them 3 cases needed mechanical ventilation. Nasal continuous positive airway pressure was used in 3 cases. Thirteen cases received anti-infective treatment. Punctures were performed in 4 cases. Surgical resec-tions were taken in 6 cases. Two cases were diagnosed as local primary infection. Six cases were confirmed by surgery,including 4 cases of branchial cleft cyst,1 case of esophageal duplication and 1 case of lymphangio-ma. Conclusion The neck masses of the newborn is prone to upper airway obstruction. Part of them need endotracheal intubation to open the airway. And the infection can be combined. There is a certain rate of misdiagnosis before operation,and the treatment plan is different according to the nature of the mass.

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.

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.